Primary Site >> Stomach Cancer

Gene >> TTN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548531:178548531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88172C>A
AA Mutation p.Ser29391Tyr(p.S29391Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178603983:178603983(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750125113
CDS Mutation c.49781G>A
AA Mutation p.Arg16594His(p.R16594H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618266:178618266(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373613871
CDS Mutation c.42269G>A
AA Mutation p.Arg14090His(p.R14090H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574056:178574056(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729490
CDS Mutation c.67153G>A
AA Mutation p.Ala22385Thr(p.A22385T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534976:178534976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96716A>G
AA Mutation p.Glu32239Gly(p.E32239G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570965:178570965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70244C>T
AA Mutation p.Ala23415Val(p.A23415V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718861:178718861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23388A>C
AA Mutation p.Lys7796Asn(p.K7796N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709658:178709658(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27710G>T
AA Mutation p.Arg9237Met(p.R9237M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580441:178580441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62015C>G
AA Mutation p.Thr20672Ser(p.T20672S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178634575:178634575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs544852574
CDS Mutation c.37283G>A
AA Mutation p.Arg12428Gln(p.R12428Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534041:178534041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97651G>A
AA Mutation p.Ala32551Thr(p.A32551T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559712:178559712(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375800916
CDS Mutation c.81497G>A
AA Mutation p.Arg27166His(p.R27166H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588813:178588813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57989A>G
AA Mutation p.Glu19330Gly(p.E19330G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589300:178589300(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532844402
CDS Mutation c.57502G>A
AA Mutation p.Ala19168Thr(p.A19168T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722447:178722447(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21389C>T
AA Mutation p.Pro7130Leu(p.P7130L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729299:178729299(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17906T>G
AA Mutation p.Val5969Gly(p.V5969G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567878:178567878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73331C>T
AA Mutation p.Ala24444Val(p.A24444V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774932:178774932(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6779T>G
AA Mutation p.Leu2260Arg(p.L2260R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620739:178620739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40948A>C
AA Mutation p.Ser13650Arg(p.S13650R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178738334:178738334(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749584249
CDS Mutation c.13168G>A
AA Mutation p.Glu4390Lys(p.E4390K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178685553:178685553(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31406T>A
AA Mutation p.Ile10469Asn(p.I10469N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709575:178709575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537805395
CDS Mutation c.27793G>A
AA Mutation p.Val9265Ile(p.V9265I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731890:178731890(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760089168
CDS Mutation c.16034G>A
AA Mutation p.Gly5345Asp(p.G5345D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776525:178776525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5339C>T
AA Mutation p.Thr1780Ile(p.T1780I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551173:178551173(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86435A>C
AA Mutation p.Lys28812Thr(p.K28812T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607862:178607862(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.48002T>G
AA Mutation p.Leu16001Arg(p.L16001R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714047:178714047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25660A>C
AA Mutation p.Thr8554Pro(p.T8554P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531770:178531770(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576270358
CDS Mutation c.99922C>T
AA Mutation p.Arg33308Cys(p.R33308C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597712:178597712(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142841000
CDS Mutation c.52447G>A
AA Mutation p.Val17483Ile(p.V17483I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620038:178620038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41456A>G
AA Mutation p.Tyr13819Cys(p.Y13819C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775923:178775923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5941A>G
AA Mutation p.Arg1981Gly(p.R1981G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552881:178552881(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85096G>C
AA Mutation p.Val28366Leu(p.V28366L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589744:178589744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57058C>A
AA Mutation p.Leu19020Met(p.L19020M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535346:178535346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96346A>C
AA Mutation p.Ser32116Arg(p.S32116R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578108:178578108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63484T>G
AA Mutation p.Phe21162Val(p.F21162V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602014:178602014(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50334G>C
AA Mutation p.Lys16778Asn(p.K16778N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590296:178590296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56506G>C
AA Mutation p.Glu18836Gln(p.E18836Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607408:178607408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48357A>C
AA Mutation p.Glu16119Asp(p.E16119D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611944:178611944(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762522321
CDS Mutation c.45442G>A
AA Mutation p.Glu15148Lys(p.E15148K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571287:178571287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69922G>A
AA Mutation p.Glu23308Lys(p.E23308K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589452:178589452(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57350A>T
AA Mutation p.Glu19117Val(p.E19117V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599009:178599009(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51778A>G
AA Mutation p.Met17260Val(p.M17260V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561779:178561779(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72648220
CDS Mutation c.79430G>A
AA Mutation p.Arg26477His(p.R26477H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543277:178543277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91773C>G
AA Mutation p.Ser30591Arg(p.S30591R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178594222:178594222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377633051
CDS Mutation c.53248G>A
AA Mutation p.Asp17750Asn(p.D17750N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607593:178607593(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760963888
CDS Mutation c.48172C>T
AA Mutation p.Arg16058Cys(p.R16058C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615707:178615707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs2303830
CDS Mutation c.43471C>T
AA Mutation p.Arg14491Cys(p.R14491C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776717:178776717(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771659260
CDS Mutation c.5147G>A
AA Mutation p.Arg1716His(p.R1716H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573806:178573806(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67403G>A
AA Mutation p.Gly22468Asp(p.G22468D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575697:178575697(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760509116
CDS Mutation c.65512C>T
AA Mutation p.Arg21838Trp(p.R21838W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587304:178587304(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372812312
CDS Mutation c.58984G>A
AA Mutation p.Val19662Met(p.V19662M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731381:178731381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16434G>T
AA Mutation p.Lys5478Asn(p.K5478N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532848:178532848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98844G>T
AA Mutation p.Gln32948His(p.Q32948H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552107:178552107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200022152
CDS Mutation c.85870C>T
AA Mutation p.Arg28624Trp(p.R28624W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741055:178741055(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11227C>A
AA Mutation p.Pro3743Thr(p.P3743T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178802233:178802233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.200T>A
AA Mutation p.Ile67Asn(p.I67N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776874:178776874(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147695336
CDS Mutation c.4990C>T
AA Mutation p.Arg1664Trp(p.R1664W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531054:178531054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100638G>T
AA Mutation p.Glu33546Asp(p.E33546D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537747:178537747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143556947
CDS Mutation c.94537C>T
AA Mutation p.Arg31513Cys(p.R31513C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559472:178559472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81737C>T
AA Mutation p.Ala27246Val(p.A27246V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178538664:178538664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94242C>A
AA Mutation p.Asp31414Glu(p.D31414E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570405:178570405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70804G>C
AA Mutation p.Glu23602Gln(p.E23602Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782418:178782418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3174G>C
AA Mutation p.Glu1058Asp(p.E1058D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617970:178617970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42458T>C
AA Mutation p.Val14153Ala(p.V14153A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582196:178582196(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753077711
CDS Mutation c.61250G>T
AA Mutation p.Arg20417Leu(p.R20417L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709839:178709839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27529A>C
AA Mutation p.Ser9177Arg(p.S9177R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580562:178580562(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.61894T>G
AA Mutation p.Leu20632Val(p.L20632V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532702:178532702(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371528685
CDS Mutation c.98990G>A
AA Mutation p.Arg32997His(p.R32997H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 69
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178549988:178549988(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769255050
CDS Mutation c.86927A>G
AA Mutation p.Gln28976Arg(p.Q28976R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774107:178774107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs75031300
CDS Mutation c.7061G>A
AA Mutation p.Arg2354His(p.R2354H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719290:178719290(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23149A>C
AA Mutation p.Ser7717Arg(p.S7717R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614643:178614643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43948A>C
AA Mutation p.Thr14650Pro(p.T14650P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684968:178684968(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31541T>C
AA Mutation p.Ile10514Thr(p.I10514T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607126:178607126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48553G>T
AA Mutation p.Gly16185Cys(p.G16185C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727197:178727197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19217C>A
AA Mutation p.Ala6406Asp(p.A6406D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178538660:178538660(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756651625
CDS Mutation c.94246C>A
AA Mutation p.Gln31416Lys(p.Q31416K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580071:178580071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62293A>G
AA Mutation p.Thr20765Ala(p.T20765A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592991:178592991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54205A>T
AA Mutation p.Ser18069Cys(p.S18069C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602129:178602129(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50219A>C
AA Mutation p.Asp16740Ala(p.D16740A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609743:178609743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46757C>T
AA Mutation p.Ala15586Val(p.A15586V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720198:178720198(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372804810
CDS Mutation c.22493G>A
AA Mutation p.Arg7498Gln(p.R7498Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562664:178562664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78545C>A
AA Mutation p.Thr26182Asn(p.T26182N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178766546:178766546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9538T>C
AA Mutation p.Tyr3180His(p.Y3180H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178770606:178770606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8186A>C
AA Mutation p.Glu2729Ala(p.E2729A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563250:178563250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773909467
CDS Mutation c.77959G>A
AA Mutation p.Gly25987Arg(p.G25987R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563797:178563797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77412G>A
AA Mutation p.Met25804Ile(p.M25804I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569477:178569477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779399871
CDS Mutation c.71732G>A
AA Mutation p.Arg23911Gln(p.R23911Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178595803:178595803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52628C>T
AA Mutation p.Pro17543Leu(p.P17543L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688197:178688197(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777586144
CDS Mutation c.31274C>T
AA Mutation p.Ser10425Leu(p.S10425L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740805:178740805(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11477T>C
AA Mutation p.Leu3826Pro(p.L3826P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589688:178589688(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57114T>A
AA Mutation p.Asp19038Glu(p.D19038E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636238:178636238(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36410T>G
AA Mutation p.Leu12137Arg(p.L12137R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723693:178723693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775519360
CDS Mutation c.20456C>T
AA Mutation p.Pro6819Leu(p.P6819L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615365:178615365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43657A>G
AA Mutation p.Arg14553Gly(p.R14553G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779005:178779005(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4077A>C
AA Mutation p.Glu1359Asp(p.E1359D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544292:178544292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91014G>C
AA Mutation p.Gln30338His(p.Q30338H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618225:178618225(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42310G>C
AA Mutation p.Glu14104Gln(p.E14104Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178527203:178527203(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102862A>G
AA Mutation p.Thr34288Ala(p.T34288A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530908:178530908(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100784C>T
AA Mutation p.Ser33595Phe(p.S33595F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562032:178562032(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79177G>A
AA Mutation p.Glu26393Lys(p.E26393K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563283:178563283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77926T>C
AA Mutation p.Trp25976Arg(p.W25976R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575640:178575640(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370771532
CDS Mutation c.65569G>A
AA Mutation p.Gly21857Ser(p.G21857S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561390:178561390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79819C>G
AA Mutation p.Pro26607Ala(p.P26607A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717245:178717245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369517119
CDS Mutation c.24538C>T
AA Mutation p.Arg8180Cys(p.R8180C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178527035:178527035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.103030A>G
AA Mutation p.Asn34344Asp(p.N34344D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535271:178535271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96421A>G
AA Mutation p.Thr32141Ala(p.T32141A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542892:178542892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92039G>A
AA Mutation p.Gly30680Asp(p.G30680D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587265:178587265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772434894
CDS Mutation c.59023G>A
AA Mutation p.Val19675Ile(p.V19675I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178621574:178621574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40327A>G
AA Mutation p.Lys13443Glu(p.K13443E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704374:178704374(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29045C>T
AA Mutation p.Thr9682Ile(p.T9682I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534272:178534272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97420G>T
AA Mutation p.Gly32474Cys(p.G32474C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557966:178557966(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82465A>G
AA Mutation p.Ile27489Val(p.I27489V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704342:178704342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29077T>C
AA Mutation p.Cys9693Arg(p.C9693R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728348:178728348(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18525A>C
AA Mutation p.Lys6175Asn(p.K6175N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720502:178720502(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22309C>A
AA Mutation p.His7437Asn(p.H7437N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721019:178721019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374430623
CDS Mutation c.22049C>T
AA Mutation p.Thr7350Met(p.T7350M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531129:178531129(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100563G>T
AA Mutation p.Trp33521Cys(p.W33521C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178581931:178581931(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61515G>T
AA Mutation p.Lys20505Asn(p.K20505N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620299:178620299(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730880239
CDS Mutation c.41299G>A
AA Mutation p.Ala13767Thr(p.A13767T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732182:178732182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15836A>G
AA Mutation p.Glu5279Gly(p.E5279G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607096:178607096(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376153809
CDS Mutation c.48583C>T
AA Mutation p.Arg16195Cys(p.R16195C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573965:178573965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124455
CDS Mutation c.67244G>A
AA Mutation p.Arg22415His(p.R22415H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587943:178587943(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373169150
CDS Mutation c.58541G>A
AA Mutation p.Arg19514His(p.R19514H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618474:178618474(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762723635
CDS Mutation c.42061C>T
AA Mutation p.Arg14021Cys(p.R14021C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718805:178718805(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23444T>C
AA Mutation p.Val7815Ala(p.V7815A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178781168:178781168(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149883066
CDS Mutation c.3476G>A
AA Mutation p.Arg1159His(p.R1159H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570045:178570045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71164C>A
AA Mutation p.Arg23722Ser(p.R23722S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578859:178578859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63248A>G
AA Mutation p.Tyr21083Cys(p.Y21083C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558633:178558633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81903A>C
AA Mutation p.Lys27301Asn(p.K27301N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178619999:178619999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41495T>G
AA Mutation p.Leu13832Arg(p.L13832R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776522:178776522(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5342A>C
AA Mutation p.Asn1781Thr(p.N1781T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730652:178730652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16930G>T
AA Mutation p.Ala5644Ser(p.A5644S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532658:178532658(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773002407
CDS Mutation c.99034C>T
AA Mutation p.Arg33012Cys(p.R33012C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570924:178570924(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70285G>T
AA Mutation p.Gly23429Cys(p.G23429C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178634819:178634819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763499817
CDS Mutation c.37132C>T
AA Mutation p.Arg12378Cys(p.R12378C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562331:178562331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78878T>C
AA Mutation p.Phe26293Ser(p.F26293S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566492:178566492(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771534555
CDS Mutation c.74717G>A
AA Mutation p.Arg24906Gln(p.R24906Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569222:178569222(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71987T>G
AA Mutation p.Ile23996Ser(p.I23996S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573670:178573670(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67539A>C
AA Mutation p.Lys22513Asn(p.K22513N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577355:178577355(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64057A>G
AA Mutation p.Thr21353Ala(p.T21353A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584458:178584458(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371581072
CDS Mutation c.60170G>A
AA Mutation p.Arg20057His(p.R20057H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605096:178605096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49158A>C
AA Mutation p.Lys16386Asn(p.K16386N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178630922:178630922(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369709751
CDS Mutation c.39113G>A
AA Mutation p.Arg13038Gln(p.R13038Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632239:178632239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38732C>T
AA Mutation p.Ser12911Leu(p.S12911L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684372:178684372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745933292
CDS Mutation c.31729C>A
AA Mutation p.Leu10577Ile(p.L10577I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704332:178704332(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29087C>A
AA Mutation p.Ser9696Tyr(p.S9696Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711167:178711167(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27118A>G
AA Mutation p.Thr9040Ala(p.T9040A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717170:178717170(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199619070
CDS Mutation c.24613G>A
AA Mutation p.Asp8205Asn(p.D8205N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728663:178728663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18312C>A
AA Mutation p.Asp6104Glu(p.D6104E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740689:178740689(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569444314
CDS Mutation c.11593G>A
AA Mutation p.Glu3865Lys(p.E3865K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741391:178741391(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517827
CDS Mutation c.10891C>T
AA Mutation p.Arg3631Cys(p.R3631C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741680:178741680(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10602T>G
AA Mutation p.Ile3534Met(p.I3534M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178767788:178767788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372196051
CDS Mutation c.9442C>T
AA Mutation p.Arg3148Cys(p.R3148C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779114:178779114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3968C>A
AA Mutation p.Ala1323Asp(p.A1323D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614169:178614169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44305T>C
AA Mutation p.Phe14769Leu(p.F14769L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178550258:178550258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86657A>G
AA Mutation p.Glu28886Gly(p.E28886G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729476:178729476(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376846228
CDS Mutation c.17729C>T
AA Mutation p.Pro5910Leu(p.P5910L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721861:178721861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21851A>T
AA Mutation p.Gln7284Leu(p.Q7284L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530696:178530696(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.100996G>A
AA Mutation p.Val33666Ile(p.V33666I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533551:178533551(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98141C>A
AA Mutation p.Pro32714His(p.P32714H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537581:178537581(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.94703C>T
AA Mutation p.Ala31568Val(p.A31568V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543137:178543137(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91913C>A
AA Mutation p.Ala30638Glu(p.A30638E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545994:178545994(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142525903
CDS Mutation c.90319C>T
AA Mutation p.Arg30107Cys(p.R30107C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178550250:178550250(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.86665C>T
AA Mutation p.Pro28889Ser(p.P28889S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562367:178562367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78842C>A
AA Mutation p.Thr26281Asn(p.T26281N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591812:178591812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55084C>T
AA Mutation p.Arg18362Cys(p.R18362C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607192:178607192(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.48487A>C
AA Mutation p.Lys16163Gln(p.K16163Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178625282:178625282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39616T>G
AA Mutation p.Phe13206Val(p.F13206V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688114:178688114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31357G>A
AA Mutation p.Glu10453Lys(p.E10453K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717631:178717631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24292G>A
AA Mutation p.Ala8098Thr(p.A8098T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741292:178741292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10990A>G
AA Mutation p.Ser3664Gly(p.S3664G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 172
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782570:178782570(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72647868
CDS Mutation c.3133G>A
AA Mutation p.Val1045Met(p.V1045M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178795116:178795116(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772889673
CDS Mutation c.1051G>A
AA Mutation p.Val351Met(p.V351M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579034:178579034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63073G>T
AA Mutation p.Ala21025Ser(p.A21025S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546795:178546795(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202187398
CDS Mutation c.89710C>T
AA Mutation p.Arg29904Cys(p.R29904C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 176
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576690:178576690(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201448988
CDS Mutation c.64631G>A
AA Mutation p.Arg21544Gln(p.R21544Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725815:178725815(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19556A>G
AA Mutation p.Gln6519Arg(p.Q6519R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 178
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712587:178712587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26384C>A
AA Mutation p.Ala8795Asp(p.A8795D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178528694:178528694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102134T>C
AA Mutation p.Val34045Ala(p.V34045A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531001:178531001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100691A>G
AA Mutation p.Asn33564Ser(p.N33564S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537746:178537746(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753958605
CDS Mutation c.94538G>A
AA Mutation p.Arg31513His(p.R31513H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549759:178549759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.87040T>C
AA Mutation p.Tyr29014His(p.Y29014H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551156:178551156(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.86452A>G
AA Mutation p.Ile28818Val(p.I28818V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552320:178552320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85657G>A
AA Mutation p.Ala28553Thr(p.A28553T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560958:178560958(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80251G>A
AA Mutation p.Ala26751Thr(p.A26751T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563795:178563795(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77414C>A
AA Mutation p.Ala25805Asp(p.A25805D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568124:178568124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73085C>T
AA Mutation p.Ser24362Phe(p.S24362F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577309:178577309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64103A>G
AA Mutation p.Tyr21368Cys(p.Y21368C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 189
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178593175:178593175(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746014701
CDS Mutation c.54110T>C
AA Mutation p.Ile18037Thr(p.I18037T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 190
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599407:178599407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51463T>C
AA Mutation p.Ser17155Pro(p.S17155P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 191
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178682723:178682723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32117A>C
AA Mutation p.Tyr10706Ser(p.Y10706S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 192
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178689830:178689830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30878A>G
AA Mutation p.Glu10293Gly(p.E10293G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 193
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178713232:178713232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25951A>G
AA Mutation p.Ser8651Gly(p.S8651G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 194
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178724304:178724304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20120A>C
AA Mutation p.Asn6707Thr(p.N6707T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 195
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729527:178729527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17678T>C
AA Mutation p.Val5893Ala(p.V5893A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 196
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730765:178730765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16817A>G
AA Mutation p.Lys5606Arg(p.K5606R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 197
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735862:178735862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13633A>G
AA Mutation p.Arg4545Gly(p.R4545G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 198
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777494:178777494(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4571A>T
AA Mutation p.Asp1524Val(p.D1524V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 199
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531433:178531433(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762136167
CDS Mutation c.100259C>T
AA Mutation p.Ala33420Val(p.A33420V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 200
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536986:178536986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95200A>G
AA Mutation p.Ser31734Gly(p.S31734G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 201
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537685:178537685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94599A>G
AA Mutation p.Ile31533Met(p.I31533M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 202
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578835:178578835(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505352
CDS Mutation c.63272C>T
AA Mutation p.Ser21091Leu(p.S21091L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 203
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612448:178612448(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377141765
CDS Mutation c.45154G>A
AA Mutation p.Val15052Ile(p.V15052I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 204
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178679348:178679348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32782C>T
AA Mutation p.Pro10928Ser(p.P10928S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 205
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530455:178530455(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101237C>T
AA Mutation p.Ser33746Leu(p.S33746L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 206
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632992:178632992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38216G>A
AA Mutation p.Cys12739Tyr(p.C12739Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 207
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727641:178727641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18986G>T
AA Mutation p.Cys6329Phe(p.C6329F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 208
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739286:178739286(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12996G>T
AA Mutation p.Lys4332Asn(p.K4332N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 209
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722923:178722923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21025G>A
AA Mutation p.Val7009Ile(p.V7009I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 210
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774039:178774039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7129G>T
AA Mutation p.Val2377Phe(p.V2377F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 211
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602058:178602058(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199656264
CDS Mutation c.50290C>T
AA Mutation p.Arg16764Cys(p.R16764C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 212
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617856:178617856(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42572G>T
AA Mutation p.Arg14191Leu(p.R14191L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 213
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729396:178729396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17809T>G
AA Mutation p.Phe5937Val(p.F5937V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 214
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554564:178554564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83860A>G
AA Mutation p.Thr27954Ala(p.T27954A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 215
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636083:178636083(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149059189
CDS Mutation c.36565G>A
AA Mutation p.Val12189Ile(p.V12189I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 216
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722126:178722126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21586A>G
AA Mutation p.Lys7196Glu(p.K7196E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 217
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636577:178636577(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36227C>A
AA Mutation p.Thr12076Lys(p.T12076K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 218
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704723:178704723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28798G>A
AA Mutation p.Ala9600Thr(p.A9600T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 219
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562904:178562904(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768262273
CDS Mutation c.78305G>A
AA Mutation p.Arg26102Gln(p.R26102Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 220
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571580:178571580(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69629C>G
AA Mutation p.Thr23210Ser(p.T23210S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 221
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719739:178719739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22802T>C
AA Mutation p.Leu7601Pro(p.L7601P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 222
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731527:178731527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16288G>A
AA Mutation p.Ala5430Thr(p.A5430T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 223
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590830:178590830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55972G>A
AA Mutation p.Gly18658Ser(p.G18658S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 224
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568225:178568225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72984C>A
AA Mutation p.Asn24328Lys(p.N24328K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 225
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587331:178587331(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201119122
CDS Mutation c.58957G>A
AA Mutation p.Gly19653Ser(p.G19653S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 226
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178670259:178670259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34223A>C
AA Mutation p.Lys11408Thr(p.K11408T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 227
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178780017:178780017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3712A>C
AA Mutation p.Thr1238Pro(p.T1238P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 228
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533816:178533816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97876A>G
AA Mutation p.Lys32626Glu(p.K32626E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 229
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785685:178785685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375132408
CDS Mutation c.2428C>T
AA Mutation p.Arg810Cys(p.R810C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 230
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178585204:178585204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59617G>C
AA Mutation p.Ala19873Pro(p.A19873P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 231
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178767853:178767853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9377A>C
AA Mutation p.Lys3126Thr(p.K3126T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 232
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739941:178739941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12341A>C
AA Mutation p.Asn4114Thr(p.N4114T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 233
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568946:178568946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72263A>C
AA Mutation p.Lys24088Thr(p.K24088T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 234
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572421:178572421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68788A>C
AA Mutation p.Thr22930Pro(p.T22930P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 235
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592858:178592858(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54338A>C
AA Mutation p.Lys18113Thr(p.K18113T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 236
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548208:178548208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768116289
CDS Mutation c.88495G>A
AA Mutation p.Asp29499Asn(p.D29499N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 237
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607576:178607576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48189A>C
AA Mutation p.Lys16063Asn(p.K16063N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 238
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564107:178564107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77102C>A
AA Mutation p.Thr25701Asn(p.T25701N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 239
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777770:178777770(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4414C>A
AA Mutation p.Gln1472Lys(p.Q1472K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 240
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537773:178537773(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94511G>T
AA Mutation p.Arg31504Leu(p.R31504L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 241
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588115:178588115(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58369G>C
AA Mutation p.Gly19457Arg(p.G19457R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 242
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618730:178618730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41897C>A
AA Mutation p.Pro13966His(p.P13966H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 243
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589006:178589006(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.57796A>C
AA Mutation p.Lys19266Gln(p.K19266Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 244
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636676:178636676(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36128A>G
AA Mutation p.Lys12043Arg(p.K12043R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 245
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178689334:178689334(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31016A>G
AA Mutation p.Lys10339Arg(p.K10339R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 246
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739785:178739785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12497A>G
AA Mutation p.Glu4166Gly(p.E4166G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 247
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741211:178741211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11071C>G
AA Mutation p.Leu3691Val(p.L3691V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 248
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531737:178531737(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772702110
CDS Mutation c.99955C>T
AA Mutation p.Arg33319Cys(p.R33319C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 249
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729534:178729534(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759379332
CDS Mutation c.17671G>A
AA Mutation p.Val5891Met(p.V5891M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 250
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544035:178544035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91186T>C
AA Mutation p.Ser30396Pro(p.S30396P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 251
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584479:178584479(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60149T>C
AA Mutation p.Ile20050Thr(p.I20050T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 252
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715007:178715007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25228G>C
AA Mutation p.Val8410Leu(p.V8410L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 253
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178768128:178768128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9191T>A
AA Mutation p.Ile3064Asn(p.I3064N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 254
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776288:178776288(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777923620
CDS Mutation c.5576G>T
AA Mutation p.Arg1859Met(p.R1859M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 255
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558631:178558631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81905C>A
AA Mutation p.Pro27302Gln(p.P27302Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 256
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558632:178558632(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81904C>A
AA Mutation p.Pro27302Thr(p.P27302T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 257
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578820:178578820(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372975579
CDS Mutation c.63287C>T
AA Mutation p.Ala21096Val(p.A21096V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 258
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711988:178711988(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26891A>G
AA Mutation p.Asn8964Ser(p.N8964S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 259
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715613:178715613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs184812963
CDS Mutation c.24850G>A
AA Mutation p.Val8284Ile(p.V8284I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 260
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553691:178553691(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200503016
CDS Mutation c.84391G>A
AA Mutation p.Glu28131Lys(p.E28131K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 261
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178795180:178795180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.987G>C
AA Mutation p.Lys329Asn(p.K329N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 262
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545552:178545552(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754151944
CDS Mutation c.90635G>A
AA Mutation p.Arg30212His(p.R30212H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 263
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178624576:178624576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39781G>A
AA Mutation p.Ala13261Thr(p.A13261T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 264
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178528799:178528799(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.102029A>G
AA Mutation p.Tyr34010Cys(p.Y34010C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 265
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565695:178565695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.75514C>A
AA Mutation p.Leu25172Met(p.L25172M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 266
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571016:178571016(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.70193C>T
AA Mutation p.Thr23398Ile(p.T23398I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 267
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178677662:178677662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33299T>C
AA Mutation p.Val11100Ala(p.V11100A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 268
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729485:178729485(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17720G>A
AA Mutation p.Gly5907Glu(p.G5907E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 269
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799503:178799503(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.898A>G
AA Mutation p.Thr300Ala(p.T300A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 270
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731539:178731539(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377193479
CDS Mutation c.16276C>T
AA Mutation p.Arg5426Trp(p.R5426W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 271
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567146:178567146(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74063C>G
AA Mutation p.Thr24688Ser(p.T24688S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 272
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178679395:178679395(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32735C>A
AA Mutation p.Pro10912Gln(p.P10912Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 273
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178695394:178695394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30273A>T
AA Mutation p.Lys10091Asn(p.K10091N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 274
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728626:178728626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18349A>G
AA Mutation p.Ser6117Gly(p.S6117G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 275
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563172:178563172(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78037G>A
AA Mutation p.Val26013Ile(p.V26013I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 276
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741441:178741441(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10841A>G
AA Mutation p.Lys3614Arg(p.K3614R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 277
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178610199:178610199(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46404G>T
AA Mutation p.Lys15468Asn(p.K15468N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 278
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620069:178620069(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41425A>G
AA Mutation p.Lys13809Glu(p.K13809E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 279
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178728892:178728892(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18195A>C
AA Mutation p.Gln6065His(p.Q6065H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 280
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573848:178573848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67361G>T
AA Mutation p.Arg22454Met(p.R22454M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 281
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543953:178543953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91268C>G
AA Mutation p.Thr30423Ser(p.T30423S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 282
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560059:178560059(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81150A>T
AA Mutation p.Lys27050Asn(p.K27050N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 283
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560286:178560286(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754025981
CDS Mutation c.80923C>T
AA Mutation p.Arg26975Trp(p.R26975W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 284
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729377:178729377(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17828A>G
AA Mutation p.Lys5943Arg(p.K5943R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 285
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553186:178553186(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773727575
CDS Mutation c.84791A>G
AA Mutation p.Asn28264Ser(p.N28264S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 286
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565010:178565010(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755178087
CDS Mutation c.76199C>T
AA Mutation p.Thr25400Met(p.T25400M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 287
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584539:178584539(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60089T>C
AA Mutation p.Val20030Ala(p.V20030A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 288
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712789:178712789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26285T>G
AA Mutation p.Phe8762Cys(p.F8762C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 289
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178713243:178713243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25940A>G
AA Mutation p.Asn8647Ser(p.N8647S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 290
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730693:178730693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16889C>A
AA Mutation p.Pro5630His(p.P5630H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 291
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775023:178775023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6688T>A
AA Mutation p.Phe2230Ile(p.F2230I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 292
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776370:178776370(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5494A>C
AA Mutation p.Thr1832Pro(p.T1832P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 293
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537228:178537228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94958C>T
AA Mutation p.Pro31653Leu(p.P31653L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 294
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562560:178562560(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778221988
CDS Mutation c.78649G>A
AA Mutation p.Val26217Ile(p.V26217I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 295
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588695:178588695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779713577
CDS Mutation c.58107G>T
AA Mutation p.Trp19369Cys(p.W19369C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 296
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782280:178782280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3312A>C
AA Mutation p.Gln1104His(p.Q1104H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 297
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579665:178579665(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368046394
CDS Mutation c.62609A>G
AA Mutation p.Lys20870Arg(p.K20870R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 298
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554087:178554087(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84101A>G
AA Mutation p.Lys28034Arg(p.K28034R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 299
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579761:178579761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62513G>A
AA Mutation p.Gly20838Asp(p.G20838D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 300
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740134:178740134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12148A>C
AA Mutation p.Lys4050Gln(p.K4050Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 301
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740327:178740327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11955A>C
AA Mutation p.Lys3985Asn(p.K3985N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 302
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782342:178782342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3250T>C
AA Mutation p.Phe1084Leu(p.F1084L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 303
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545633:178545633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90554T>C
AA Mutation p.Ile30185Thr(p.I30185T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 304
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548651:178548651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88052G>T
AA Mutation p.Gly29351Val(p.G29351V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 305
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178679972:178679972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32551G>A
AA Mutation p.Glu10851Lys(p.E10851K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 306
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536054:178536054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95770G>A
AA Mutation p.Ala31924Thr(p.A31924T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 307
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583832:178583832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60427G>A
AA Mutation p.Asp20143Asn(p.D20143N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 308
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617998:178617998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755971270
CDS Mutation c.42430G>A
AA Mutation p.Asp14144Asn(p.D14144N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 309
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720488:178720488(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22323T>G
AA Mutation p.Ser7441Arg(p.S7441R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 310
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782280:178782280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3312A>T
AA Mutation p.Gln1104His(p.Q1104H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 311
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618243:178618243(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42292G>C
AA Mutation p.Gly14098Arg(p.G14098R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 312
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535493:178535493(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96199T>G
AA Mutation p.Leu32067Val(p.L32067V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 313
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572610:178572610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68599A>G
AA Mutation p.Lys22867Glu(p.K22867E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 314
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178581947:178581947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.61499C>G
AA Mutation p.Pro20500Arg(p.P20500R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 315
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590053:178590053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56749G>A
AA Mutation p.Ala18917Thr(p.A18917T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 316
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590316:178590316(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202012910
CDS Mutation c.56486T>C
AA Mutation p.Ile18829Thr(p.I18829T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 317
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178625317:178625317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39581T>G
AA Mutation p.Leu13194Arg(p.L13194R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 318
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728118:178728118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18755C>A
AA Mutation p.Thr6252Asn(p.T6252N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 319
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557753:178557753(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82678A>C
AA Mutation p.Lys27560Gln(p.K27560Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 320
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605240:178605240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49014G>T
AA Mutation p.Lys16338Asn(p.K16338N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 321
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591157:178591157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55645A>G
AA Mutation p.Thr18549Ala(p.T18549A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 322
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615406:178615406(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43616A>G
AA Mutation p.Lys14539Arg(p.K14539R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 323
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773247:178773247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7717A>G
AA Mutation p.Lys2573Glu(p.K2573E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 324
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717104:178717104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24679G>C
AA Mutation p.Gly8227Arg(p.G8227R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 325
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784074:178784074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2771C>A
AA Mutation p.Ala924Asp(p.A924D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 326
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536233:178536233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95591T>C
AA Mutation p.Leu31864Pro(p.L31864P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 327
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178634749:178634749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37202T>C
AA Mutation p.Ile12401Thr(p.I12401T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 328
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592274:178592274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54707A>C
AA Mutation p.Lys18236Thr(p.K18236T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 329
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614689:178614689(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43902G>C
AA Mutation p.Lys14634Asn(p.K14634N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 330
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569507:178569507(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71702T>G
AA Mutation p.Val23901Gly(p.V23901G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 331
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574953:178574953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66256C>T
AA Mutation p.Pro22086Ser(p.P22086S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 332
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582370:178582370(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72646868
CDS Mutation c.61163G>A
AA Mutation p.Arg20388His(p.R20388H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 333
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635242:178635242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37024A>G
AA Mutation p.Ser12342Gly(p.S12342G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 334
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706868:178706868(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72649002
CDS Mutation c.28177G>A
AA Mutation p.Val9393Ile(p.V9393I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 335
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779099:178779099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3983G>A
AA Mutation p.Gly1328Asp(p.G1328D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 336
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532576:178532576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.99116G>T
AA Mutation p.Arg33039Met(p.R33039M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 337
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563592:178563592(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745920301
CDS Mutation c.77617G>A
AA Mutation p.Val25873Ile(p.V25873I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 338
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592861:178592861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755651839
CDS Mutation c.54335A>G
AA Mutation p.Tyr18112Cys(p.Y18112C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 339
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563549:178563549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765230578
CDS Mutation c.77660G>A
AA Mutation p.Arg25887Gln(p.R25887Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 340
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178733296:178733296(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15046T>C
AA Mutation p.Phe5016Leu(p.F5016L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 341
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547992:178547992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786205368
CDS Mutation c.88711G>A
AA Mutation p.Glu29571Lys(p.E29571K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 342
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715236:178715236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372385679
CDS Mutation c.24999T>A
AA Mutation p.His8333Gln(p.H8333Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 343
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548528:178548528(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88175C>T
AA Mutation p.Ala29392Val(p.A29392V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 344
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632225:178632225(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729431
CDS Mutation c.38746G>A
AA Mutation p.Asp12916Asn(p.D12916N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 345
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588109:178588109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774240012
CDS Mutation c.58375G>A
AA Mutation p.Val19459Ile(p.V19459I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 346
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558029:178558029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779585317
CDS Mutation c.82402A>G
AA Mutation p.Thr27468Ala(p.T27468A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 347
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609339:178609339(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755536501
CDS Mutation c.47048T>C
AA Mutation p.Ile15683Thr(p.I15683T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 348
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609738:178609738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46762G>T
AA Mutation p.Gly15588Cys(p.G15588C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 349
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633508:178633508(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368572799
CDS Mutation c.37928G>A
AA Mutation p.Arg12643His(p.R12643H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 350
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775530:178775530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6334T>C
AA Mutation p.Tyr2112His(p.Y2112H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 351
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178624554:178624554(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39803T>C
AA Mutation p.Leu13268Pro(p.L13268P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 352
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633619:178633619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37817A>C
AA Mutation p.Glu12606Ala(p.E12606A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 353
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729455:178729455(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17750A>C
AA Mutation p.Lys5917Thr(p.K5917T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 354
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720621:178720621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22190T>C
AA Mutation p.Leu7397Pro(p.L7397P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 355
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178789375:178789375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2061A>C
AA Mutation p.Gln687His(p.Q687H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 356
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741039:178741039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11243T>A
AA Mutation p.Leu3748His(p.L3748H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 357
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568446:178568446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72763G>A
AA Mutation p.Gly24255Arg(p.G24255R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 358
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578977:178578977(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63130G>T
AA Mutation p.Asp21044Tyr(p.D21044Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 359
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722128:178722128(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21584A>C
AA Mutation p.Lys7195Thr(p.K7195T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 360
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719638:178719638(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752227139
CDS Mutation c.22903G>A
AA Mutation p.Glu7635Lys(p.E7635K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 361
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722099:178722099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21613G>A
AA Mutation p.Val7205Ile(p.V7205I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 362
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537708:178537708(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94576G>A
AA Mutation p.Asp31526Asn(p.D31526N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 363
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593357:178593357(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53928G>C
AA Mutation p.Lys17976Asn(p.K17976N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 364
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178594412:178594412(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53159C>T
AA Mutation p.Ala17720Val(p.A17720V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 365
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178619764:178619764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41630T>C
AA Mutation p.Val13877Ala(p.V13877A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 366
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740277:178740277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12005C>T
AA Mutation p.Ala4002Val(p.A4002V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 367
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578899:178578899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63208G>A
AA Mutation p.Gly21070Ser(p.G21070S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 368
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562596:178562596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78613T>C
AA Mutation p.Tyr26205His(p.Y26205H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 369
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561239:178561239(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs187270666
CDS Mutation c.79970G>A
AA Mutation p.Arg26657Gln(p.R26657Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 370
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580591:178580591(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61865T>G
AA Mutation p.Leu20622Arg(p.L20622R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 371
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587528:178587528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58858G>A
AA Mutation p.Val19620Ile(p.V19620I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 372
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546038:178546038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90275A>G
AA Mutation p.Gln30092Arg(p.Q30092R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 373
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548787:178548787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.87916A>G
AA Mutation p.Ile29306Val(p.I29306V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 374
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549587:178549587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.87212T>C
AA Mutation p.Val29071Ala(p.V29071A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 375
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602093:178602093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50255G>A
AA Mutation p.Gly16752Asp(p.G16752D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 376
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178702176:178702176(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746275042
CDS Mutation c.29552C>T
AA Mutation p.Thr9851Met(p.T9851M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 377
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776123:178776123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374203813
CDS Mutation c.5741C>T
AA Mutation p.Ala1914Val(p.A1914V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 378
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598863:178598863(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51924A>C
AA Mutation p.Lys17308Asn(p.K17308N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 379
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602140:178602140(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50208A>C
AA Mutation p.Glu16736Asp(p.E16736D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 380
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739662:178739662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12620T>G
AA Mutation p.Val4207Gly(p.V4207G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 381
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537163:178537163(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374295768
CDS Mutation c.95023G>A
AA Mutation p.Ala31675Thr(p.A31675T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 382
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590626:178590626(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504479
CDS Mutation c.56176C>T
AA Mutation p.Arg18726Trp(p.R18726W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 383
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531053:178531053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100639A>T
AA Mutation p.Ile33547Phe(p.I33547F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 384
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598921:178598921(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51866G>C
AA Mutation p.Arg17289Thr(p.R17289T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 385
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543167:178543167(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91883A>G
AA Mutation p.Glu30628Gly(p.E30628G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 386
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551692:178551692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.86285A>G
AA Mutation p.Asn28762Ser(p.N28762S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 387
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530375:178530375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101317G>C
AA Mutation p.Glu33773Gln(p.E33773Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 388
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546648:178546648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89857A>C
AA Mutation p.Ser29953Arg(p.S29953R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 389
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777162:178777162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4801T>C
AA Mutation p.Tyr1601His(p.Y1601H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 390
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573350:178573350(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142874389
CDS Mutation c.67859G>A
AA Mutation p.Arg22620Gln(p.R22620Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 391
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782237:178782237(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3355G>A
AA Mutation p.Gly1119Ser(p.G1119S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 392
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551921:178551921(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86056C>A
AA Mutation p.Pro28686Thr(p.P28686T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 393
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178652300:178652300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34654C>T
AA Mutation p.Pro11552Ser(p.P11552S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 394
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722535:178722535(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21301C>T
AA Mutation p.Pro7101Ser(p.P7101S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 395
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591641:178591641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55255C>G
AA Mutation p.Leu18419Val(p.L18419V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 396
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704710:178704710(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373651676
CDS Mutation c.28811T>C
AA Mutation p.Ile9604Thr(p.I9604T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 397
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560222:178560222(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.80987G>C
AA Mutation p.Ser26996Thr(p.S26996T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 398
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565393:178565393(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.75816G>C
AA Mutation p.Trp25272Cys(p.W25272C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 399
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536944:178536944(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95242C>A
AA Mutation p.Pro31748Thr(p.P31748T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 400
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719236:178719236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23203A>G
AA Mutation p.Thr7735Ala(p.T7735A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 401
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546765:178546765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757099797
CDS Mutation c.89740C>T
AA Mutation p.Arg29914Cys(p.R29914C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 402
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551132:178551132(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775591945
CDS Mutation c.86476C>T
AA Mutation p.Arg28826Cys(p.R28826C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 403
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589549:178589549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57253A>T
AA Mutation p.Thr19085Ser(p.T19085S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 404
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616503:178616503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43365A>C
AA Mutation p.Glu14455Asp(p.E14455D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 405
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727315:178727315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19099T>C
AA Mutation p.Ser6367Pro(p.S6367P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 406
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731791:178731791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16133A>G
AA Mutation p.Gln5378Arg(p.Q5378R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 407
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599602:178599602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51376G>T
AA Mutation p.Val17126Leu(p.V17126L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 408
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776065:178776065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5799A>C
AA Mutation p.Glu1933Asp(p.E1933D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 409
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582047:178582047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61399A>G
AA Mutation p.Lys20467Glu(p.K20467E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 410
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178586759:178586759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59219A>G
AA Mutation p.Asn19740Ser(p.N19740S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 411
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178631075:178631075(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs574681280
CDS Mutation c.39050A>G
AA Mutation p.Asp13017Gly(p.D13017G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 412
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771374:178771374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7953A>T
AA Mutation p.Glu2651Asp(p.E2651D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 413
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577826:178577826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63677A>G
AA Mutation p.Tyr21226Cys(p.Y21226C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 414
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178581576:178581576(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200971254
CDS Mutation c.61769G>A
AA Mutation p.Arg20590His(p.R20590H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 415
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178621971:178621971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40028G>A
AA Mutation p.Gly13343Asp(p.G13343D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 416
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533095:178533095(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98597C>T
AA Mutation p.Ala32866Val(p.A32866V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 417
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632786:178632786(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38297C>A
AA Mutation p.Pro12766His(p.P12766H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 418
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605443:178605443(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48929C>T
AA Mutation p.Pro16310Leu(p.P16310L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 419
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548444:178548444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504923
CDS Mutation c.88259G>A
AA Mutation p.Arg29420His(p.R29420H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 420
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559954:178559954(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81255A>C
AA Mutation p.Lys27085Asn(p.K27085N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 421
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574460:178574460(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66749T>C
AA Mutation p.Leu22250Pro(p.L22250P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 422
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735853:178735853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13642T>C
AA Mutation p.Tyr4548His(p.Y4548H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 423
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567287:178567287(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.73922A>C
AA Mutation p.Lys24641Thr(p.K24641T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 424
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714390:178714390(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25433A>C
AA Mutation p.Gln8478Pro(p.Q8478P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 425
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178802246:178802246(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764892312
CDS Mutation c.187G>A
AA Mutation p.Ala63Thr(p.A63T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 426
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582474:178582474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61059C>A
AA Mutation p.Asp20353Glu(p.D20353E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 427
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616947:178616947(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150364979
CDS Mutation c.43019C>T
AA Mutation p.Thr14340Met(p.T14340M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 428
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564831:178564831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76378G>A
AA Mutation p.Gly25460Ser(p.G25460S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 429
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572040:178572040(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69169A>G
AA Mutation p.Ser23057Gly(p.S23057G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 430
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608714:178608714(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.47374A>C
AA Mutation p.Thr15792Pro(p.T15792P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 431
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779273:178779273(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3919G>T
AA Mutation p.Gly1307Cys(p.G1307C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 432
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706611:178706611(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28312A>C
AA Mutation p.Lys9438Gln(p.K9438Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 433
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775821:178775821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776534823
CDS Mutation c.6043G>A
AA Mutation p.Ala2015Thr(p.A2015T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 434
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178527262:178527262(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102803A>T
AA Mutation p.Asp34268Val(p.D34268V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 435
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178601675:178601675(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50492G>T
AA Mutation p.Cys16831Phe(p.C16831F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 436
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635652:178635652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36749C>A
AA Mutation p.Ala12250Asp(p.A12250D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 437
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718936:178718936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23313A>C
AA Mutation p.Glu7771Asp(p.E7771D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 438
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730952:178730952(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16762A>C
AA Mutation p.Ser5588Arg(p.S5588R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 439
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779254:178779254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3938A>G
AA Mutation p.Lys1313Arg(p.K1313R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 440
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559860:178559860(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81349A>G
AA Mutation p.Ser27117Gly(p.S27117G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 441
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561062:178561062(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.80147T>C
AA Mutation p.Val26716Ala(p.V26716A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 442
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577336:178577336(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.64076C>A
AA Mutation p.Pro21359Gln(p.P21359Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 443
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568590:178568590(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763227305
CDS Mutation c.72619G>A
AA Mutation p.Asp24207Asn(p.D24207N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 444
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573458:178573458(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs55992239
CDS Mutation c.67751C>T
AA Mutation p.Pro22584Leu(p.P22584L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 445
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557707:178557707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82724A>C
AA Mutation p.Asn27575Thr(p.N27575T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 446
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561762:178561762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79447G>A
AA Mutation p.Glu26483Lys(p.E26483K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 447
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722440:178722440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21396A>C
AA Mutation p.Gln7132His(p.Q7132H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 448
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722114:178722114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21598T>G
AA Mutation p.Phe7200Val(p.F7200V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 449
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730604:178730604(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16978G>A
AA Mutation p.Glu5660Lys(p.E5660K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 450
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779426:178779426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748744696
CDS Mutation c.3766A>G
AA Mutation p.Lys1256Glu(p.K1256E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 451
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588055:178588055(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200726948
CDS Mutation c.58429C>T
AA Mutation p.Arg19477Trp(p.R19477W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 452
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684045:178684045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31809A>C
AA Mutation p.Lys10603Asn(p.K10603N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 453
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563971:178563971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77238T>G
AA Mutation p.Cys25746Trp(p.C25746W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 454
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782224:178782224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3368C>T
AA Mutation p.Thr1123Ile(p.T1123I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 455
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545543:178545543(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90644G>A
AA Mutation p.Arg30215His(p.R30215H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 456
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561843:178561843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79366A>G
AA Mutation p.Thr26456Ala(p.T26456A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 457
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571455:178571455(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69754A>G
AA Mutation p.Thr23252Ala(p.T23252A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 458
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178581663:178581663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61682A>G
AA Mutation p.Asn20561Ser(p.N20561S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 459
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618769:178618769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41858A>G
AA Mutation p.Tyr13953Cys(p.Y13953C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 460
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178675933:178675933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33403C>T
AA Mutation p.Pro11135Ser(p.P11135S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 461
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178688677:178688677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31246G>T
AA Mutation p.Val10416Leu(p.V10416L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 462
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711191:178711191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27094A>G
AA Mutation p.Thr9032Ala(p.T9032A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 463
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728523:178728523(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776818687
CDS Mutation c.18452G>C
AA Mutation p.Cys6151Ser(p.C6151S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 464
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775872:178775872(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503692
CDS Mutation c.5992C>T
AA Mutation p.Arg1998Cys(p.R1998C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 465
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178736041:178736041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13454A>C
AA Mutation p.Lys4485Thr(p.K4485T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 466
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178793528:178793528(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754127089
CDS Mutation c.1412C>T
AA Mutation p.Ala471Val(p.A471V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 467
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688766:178688766(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31157A>C
AA Mutation p.Lys10386Thr(p.K10386T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 468
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725566:178725566(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753356990
CDS Mutation c.19687G>A
AA Mutation p.Ala6563Thr(p.A6563T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 469
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730225:178730225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17224T>C
AA Mutation p.Ser5742Pro(p.S5742P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 470
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178713995:178713995(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25712A>C
AA Mutation p.Lys8571Thr(p.K8571T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 471
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739729:178739729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12553A>C
AA Mutation p.Ser4185Arg(p.S4185R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 472
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605073:178605073(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182445366
CDS Mutation c.49181C>T
AA Mutation p.Ala16394Val(p.A16394V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 473
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728256:178728256(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18617C>A
AA Mutation p.Thr6206Lys(p.T6206K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 474
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578934:178578934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63173A>G
AA Mutation p.Gln21058Arg(p.Q21058R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 475
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602508:178602508(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49971A>C
AA Mutation p.Lys16657Asn(p.K16657N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 476
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607896:178607896(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749503285
CDS Mutation c.47968G>A
AA Mutation p.Val15990Ile(p.V15990I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 477
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722875:178722875(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21073T>G
AA Mutation p.Leu7025Val(p.L7025V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 478
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584789:178584789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59929T>C
AA Mutation p.Ser19977Pro(p.S19977P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 479
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612895:178612895(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44903A>G
AA Mutation p.Gln14968Arg(p.Q14968R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 480
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779299:178779299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3893A>C
AA Mutation p.Lys1298Thr(p.K1298T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 481
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739820:178739820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12462G>A
AA Mutation p.Met4154Ile(p.M4154I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 482
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178682830:178682830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32010A>C
AA Mutation p.Glu10670Asp(p.E10670D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 483
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565688:178565688(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75521A>G
AA Mutation p.Tyr25174Cys(p.Y25174C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 484
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543548:178543548(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91502T>C
AA Mutation p.Val30501Ala(p.V30501A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 485
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616933:178616933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43033A>C
AA Mutation p.Ser14345Arg(p.S14345R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 486
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536513:178536513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778297512
CDS Mutation c.95311G>A
AA Mutation p.Ala31771Thr(p.A31771T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 487
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178792134:178792134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1600G>C
AA Mutation p.Glu534Gln(p.E534Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 488
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576260:178576260(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64949C>T
AA Mutation p.Thr21650Ile(p.T21650I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 489
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614585:178614585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44006T>A
AA Mutation p.Val14669Asp(p.V14669D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 490
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636419:178636419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36385A>G
AA Mutation p.Thr12129Ala(p.T12129A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 491
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730149:178730149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17300G>A
AA Mutation p.Cys5767Tyr(p.C5767Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 492
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740972:178740972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11310A>C
AA Mutation p.Glu3770Asp(p.E3770D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 493
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560376:178560376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80833A>G
AA Mutation p.Ile26945Val(p.I26945V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 494
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604999:178604999(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190574498
CDS Mutation c.49255G>A
AA Mutation p.Val16419Ile(p.V16419I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 495
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178678189:178678189(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32979G>T
AA Mutation p.Lys10993Asn(p.K10993N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 496
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712399:178712399(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26572A>G
AA Mutation p.Thr8858Ala(p.T8858A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 497
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722543:178722543(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21293G>A
AA Mutation p.Arg7098His(p.R7098H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 498
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599259:178599259(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371571153
CDS Mutation c.51611C>T
AA Mutation p.Thr17204Met(p.T17204M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 499
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539711:178539711(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93431C>T
AA Mutation p.Ala31144Val(p.A31144V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 500
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547532:178547532(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577262832
CDS Mutation c.89171G>A
AA Mutation p.Arg29724His(p.R29724H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 501
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552505:178552505(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85472A>G
AA Mutation p.Asp28491Gly(p.D28491G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 502
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553249:178553249(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84728C>T
AA Mutation p.Ala28243Val(p.A28243V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 503
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557944:178557944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82487G>T
AA Mutation p.Arg27496Met(p.R27496M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 504
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580107:178580107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62257C>T
AA Mutation p.Arg20753Cys(p.R20753C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 505
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684347:178684347(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778076110
CDS Mutation c.31754C>T
AA Mutation p.Ala10585Val(p.A10585V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 506
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178717808:178717808(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201810836
CDS Mutation c.24115C>T
AA Mutation p.Arg8039Cys(p.R8039C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 507
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732947:178732947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15278G>A
AA Mutation p.Gly5093Asp(p.G5093D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 508
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739996:178739996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12286G>T
AA Mutation p.Gly4096Cys(p.G4096C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 509
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775871:178775871(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144135510
CDS Mutation c.5993G>A
AA Mutation p.Arg1998His(p.R1998H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 510
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784263:178784263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2582C>T
AA Mutation p.Ala861Val(p.A861V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 511
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178802228:178802228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.205G>A
AA Mutation p.Ala69Thr(p.A69T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 512
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178593963:178593963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53507T>C
AA Mutation p.Val17836Ala(p.V17836A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 513
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604004:178604004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49760G>A
AA Mutation p.Gly16587Asp(p.G16587D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 514
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178642294:178642294(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769313634
CDS Mutation c.35578C>T
AA Mutation p.Arg11860Cys(p.R11860C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 515
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774272:178774272(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6992A>G
AA Mutation p.Glu2331Gly(p.E2331G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 516
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178729559:178729559(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17646C>G
Mutation Classification Silent
Feature Type Transcript
ID 517
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178558438:178558438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82098G>A
Mutation Classification Silent
Feature Type Transcript
ID 518
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178735770:178735770(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13725A>G
Mutation Classification Silent
Feature Type Transcript
ID 519
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178571971:178571971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770457900
CDS Mutation c.69238C>T
Mutation Classification Silent
Feature Type Transcript
ID 520
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178615387:178615387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748604628
CDS Mutation c.43635C>T
Mutation Classification Silent
Feature Type Transcript
ID 521
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178636183:178636183(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36465G>A
Mutation Classification Silent
Feature Type Transcript
ID 522
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565894:178565894(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75315C>T
Mutation Classification Silent
Feature Type Transcript
ID 523
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178651472:178651472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35007A>G
Mutation Classification Silent
Feature Type Transcript
ID 524
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178741317:178741317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10965C>T
Mutation Classification Silent
Feature Type Transcript
ID 525
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178557859:178557859(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371763584
CDS Mutation c.82572C>T
Mutation Classification Silent
Feature Type Transcript
ID 526
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178740306:178740306(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11976T>C
Mutation Classification Silent
Feature Type Transcript
ID 527
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178775969:178775969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186005100
CDS Mutation c.5895T>C
Mutation Classification Silent
Feature Type Transcript
ID 528
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178566887:178566887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.74322A>T
Mutation Classification Silent
Feature Type Transcript
ID 529
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725925:178725925(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376573256
CDS Mutation c.19446G>A
Mutation Classification Silent
Feature Type Transcript
ID 530
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178591494:178591494(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751255726
CDS Mutation c.55308C>T
Mutation Classification Silent
Feature Type Transcript
ID 531
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533439:178533439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759740681
CDS Mutation c.98253A>G
Mutation Classification Silent
Feature Type Transcript
ID 532
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577452:178577452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63960G>T
Mutation Classification Silent
Feature Type Transcript
ID 533
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178681413:178681413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32259G>A
Mutation Classification Silent
Feature Type Transcript
ID 534
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178556939:178556939(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83292G>A
Mutation Classification Silent
Feature Type Transcript
ID 535
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178576665:178576665(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.64656A>C
Mutation Classification Silent
Feature Type Transcript
ID 536
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178624610:178624610(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39747A>G
Mutation Classification Silent
Feature Type Transcript
ID 537
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178549076:178549076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.87627C>T
Mutation Classification Silent
Feature Type Transcript
ID 538
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178542666:178542666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92265T>A
Mutation Classification Silent
Feature Type Transcript
ID 539
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178534936:178534936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.96756G>A
Mutation Classification Silent
Feature Type Transcript
ID 540
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178607840:178607840(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766991039
CDS Mutation c.48024C>T
Mutation Classification Silent
Feature Type Transcript
ID 541
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178773583:178773583(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7473A>G
Mutation Classification Silent
Feature Type Transcript
ID 542
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178621190:178621190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40605A>G
Mutation Classification Silent
Feature Type Transcript
ID 543
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178734948:178734948(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14025A>G
Mutation Classification Silent
Feature Type Transcript
ID 544
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565255:178565255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75954C>T
Mutation Classification Silent
Feature Type Transcript
ID 545
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178607825:178607825(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773148195
CDS Mutation c.48039G>A
Mutation Classification Silent
Feature Type Transcript
ID 546
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178559711:178559711(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81498T>C
Mutation Classification Silent
Feature Type Transcript
ID 547
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178723113:178723113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20943G>T
Mutation Classification Silent
Feature Type Transcript
ID 548
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178529182:178529182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101646A>G
Mutation Classification Silent
Feature Type Transcript
ID 549
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572983:178572983(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs564938876
CDS Mutation c.68226G>A
Mutation Classification Silent
Feature Type Transcript
ID 550
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782397:178782397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3195T>C
Mutation Classification Silent
Feature Type Transcript
ID 551
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178804625:178804625(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755302800
CDS Mutation c.18G>A
Mutation Classification Silent
Feature Type Transcript
ID 552
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178553158:178553158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84819A>C
Mutation Classification Silent
Feature Type Transcript
ID 553
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178727169:178727169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19245T>C
Mutation Classification Silent
Feature Type Transcript
ID 554
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731142:178731142(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16572T>G
Mutation Classification Silent
Feature Type Transcript
ID 555
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178770271:178770271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8430C>T
Mutation Classification Silent
Feature Type Transcript
ID 556
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178528696:178528696(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102132C>T
Mutation Classification Silent
Feature Type Transcript
ID 557
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178554020:178554020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84168A>G
Mutation Classification Silent
Feature Type Transcript
ID 558
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178574252:178574252(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66957C>T
Mutation Classification Silent
Feature Type Transcript
ID 559
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178581934:178581934(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61512C>A
Mutation Classification Silent
Feature Type Transcript
ID 560
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178702581:178702581(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29355C>A
Mutation Classification Silent
Feature Type Transcript
ID 561
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178714530:178714530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780219663
CDS Mutation c.25293C>T
Mutation Classification Silent
Feature Type Transcript
ID 562
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178724369:178724369(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759813012
CDS Mutation c.20055C>A
Mutation Classification Silent
Feature Type Transcript
ID 563
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731423:178731423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16392G>A
Mutation Classification Silent
Feature Type Transcript
ID 564
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178774085:178774085(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7083A>G
Mutation Classification Silent
Feature Type Transcript
ID 565
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782818:178782818(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773367580
CDS Mutation c.3088C>T
Mutation Classification Silent
Feature Type Transcript
ID 566
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178704880:178704880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28740A>T
Mutation Classification Silent
Feature Type Transcript
ID 567
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178571171:178571171(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754043680
CDS Mutation c.70038C>T
Mutation Classification Silent
Feature Type Transcript
ID 568
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178575560:178575560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.65649A>G
Mutation Classification Silent
Feature Type Transcript
ID 569
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178713931:178713931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25776C>T
Mutation Classification Silent
Feature Type Transcript
ID 570
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178738152:178738152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13350C>T
Mutation Classification Silent
Feature Type Transcript
ID 571
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725991:178725991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19380A>G
Mutation Classification Silent
Feature Type Transcript
ID 572
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178548242:178548242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88461C>A
Mutation Classification Silent
Feature Type Transcript
ID 573
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178554059:178554059(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84129A>G
Mutation Classification Silent
Feature Type Transcript
ID 574
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178564304:178564304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76905T>G
Mutation Classification Silent
Feature Type Transcript
ID 575
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572413:178572413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68796C>T
Mutation Classification Silent
Feature Type Transcript
ID 576
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178591326:178591326(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55476A>G
Mutation Classification Silent
Feature Type Transcript
ID 577
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178591720:178591720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55176A>G
Mutation Classification Silent
Feature Type Transcript
ID 578
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178597665:178597665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52494T>C
Mutation Classification Silent
Feature Type Transcript
ID 579
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178680267:178680267(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32454A>G
Mutation Classification Silent
Feature Type Transcript
ID 580
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178727616:178727616(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765887722
CDS Mutation c.19011C>T
Mutation Classification Silent
Feature Type Transcript
ID 581
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178802274:178802274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.159C>T
Mutation Classification Silent
Feature Type Transcript
ID 582
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178651700:178651700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34908C>T
Mutation Classification Silent
Feature Type Transcript
ID 583
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178773523:178773523(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7533C>T
Mutation Classification Silent
Feature Type Transcript
ID 584
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178774973:178774973(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6738T>C
Mutation Classification Silent
Feature Type Transcript
ID 585
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178714311:178714311(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551600321
CDS Mutation c.25512C>T
Mutation Classification Silent
Feature Type Transcript
ID 586
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178721078:178721078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21990C>T
Mutation Classification Silent
Feature Type Transcript
ID 587
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178567511:178567511(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.73698T>C
Mutation Classification Silent
Feature Type Transcript
ID 588
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178594031:178594031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374998127
CDS Mutation c.53439C>T
Mutation Classification Silent
Feature Type Transcript
ID 589
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178531096:178531096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100596C>T
Mutation Classification Silent
Feature Type Transcript
ID 590
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178549781:178549781(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577669871
CDS Mutation c.87018C>T
Mutation Classification Silent
Feature Type Transcript
ID 591
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178652307:178652307(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34647G>A
Mutation Classification Silent
Feature Type Transcript
ID 592
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731760:178731760(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370036981
CDS Mutation c.16164C>T
Mutation Classification Silent
Feature Type Transcript
ID 593
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178620384:178620384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41214A>G
Mutation Classification Silent
Feature Type Transcript
ID 594
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178789483:178789483(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778742098
CDS Mutation c.1953C>T
Mutation Classification Silent
Feature Type Transcript
ID 595
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178672678:178672678(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33690A>G
Mutation Classification Silent
Feature Type Transcript
ID 596
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178609320:178609320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47067A>T
Mutation Classification Silent
Feature Type Transcript
ID 597
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178549820:178549820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86979G>T
Mutation Classification Silent
Feature Type Transcript
ID 598
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178557951:178557951(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82480C>T
Mutation Classification Silent
Feature Type Transcript
ID 599
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178598959:178598959(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51828A>G
Mutation Classification Silent
Feature Type Transcript
ID 600
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178719176:178719176(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23263C>T
Mutation Classification Silent
Feature Type Transcript
ID 601
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178530823:178530823(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100869A>G
Mutation Classification Silent
Feature Type Transcript
ID 602
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178545902:178545902(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.90411C>T
Mutation Classification Silent
Feature Type Transcript
ID 603
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178633295:178633295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369959066
CDS Mutation c.38055C>T
Mutation Classification Silent
Feature Type Transcript
ID 604
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178590909:178590909(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504529
CDS Mutation c.55893G>A
Mutation Classification Silent
Feature Type Transcript
ID 605
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178636449:178636449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36355T>C
Mutation Classification Silent
Feature Type Transcript
ID 606
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178678826:178678826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32796T>C
Mutation Classification Silent
Feature Type Transcript
ID 607
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577696:178577696(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63807A>G
Mutation Classification Silent
Feature Type Transcript
ID 608
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178722013:178722013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21699A>G
Mutation Classification Silent
Feature Type Transcript
ID 609
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178562780:178562780(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781312539
CDS Mutation c.78429G>A
Mutation Classification Silent
Feature Type Transcript
ID 610
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178535677:178535677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96015C>G
Mutation Classification Silent
Feature Type Transcript
ID 611
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178592623:178592623(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.54459A>G
Mutation Classification Silent
Feature Type Transcript
ID 612
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178556873:178556873(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775458117
CDS Mutation c.83358G>A
Mutation Classification Silent
Feature Type Transcript
ID 613
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178609853:178609853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46647T>G
Mutation Classification Silent
Feature Type Transcript
ID 614
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533322:178533322(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98370G>T
Mutation Classification Silent
Feature Type Transcript
ID 615
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178789375:178789375(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs188680791
CDS Mutation c.2061A>G
Mutation Classification Silent
Feature Type Transcript
ID 616
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178702193:178702193(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29535G>A
Mutation Classification Silent
Feature Type Transcript
ID 617
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178601044:178601044(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50937A>G
Mutation Classification Silent
Feature Type Transcript
ID 618
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178613888:178613888(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749308557
CDS Mutation c.44472C>T
Mutation Classification Silent
Feature Type Transcript
ID 619
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782274:178782274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141768043
CDS Mutation c.3318C>T
Mutation Classification Silent
Feature Type Transcript
ID 620
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178740050:178740050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12232C>T
Mutation Classification Silent
Feature Type Transcript
ID 621
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178620031:178620031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147703145
CDS Mutation c.41463C>T
Mutation Classification Silent
Feature Type Transcript
ID 622
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178739975:178739975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12307A>C
Mutation Classification Silent
Feature Type Transcript
ID 623
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178554460:178554460(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759136146
CDS Mutation c.83964C>T
Mutation Classification Silent
Feature Type Transcript
ID 624
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178608272:178608272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47688A>G
Mutation Classification Silent
Feature Type Transcript
ID 625
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178587667:178587667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771650261
CDS Mutation c.58719T>C
Mutation Classification Silent
Feature Type Transcript
ID 626
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178635976:178635976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36672C>T
Mutation Classification Silent
Feature Type Transcript
ID 627
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178593842:178593842(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53535A>G
Mutation Classification Silent
Feature Type Transcript
ID 628
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178544424:178544424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375076970
CDS Mutation c.90882C>T
Mutation Classification Silent
Feature Type Transcript
ID 629
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178545542:178545542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90645T>G
Mutation Classification Silent
Feature Type Transcript
ID 630
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178568834:178568834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72375A>G
Mutation Classification Silent
Feature Type Transcript
ID 631
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178786067:178786067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2151C>A
Mutation Classification Silent
Feature Type Transcript
ID 632
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178802247:178802247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528853682
CDS Mutation c.186C>T
Mutation Classification Silent
Feature Type Transcript
ID 633
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178568372:178568372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72837C>T
Mutation Classification Silent
Feature Type Transcript
ID 634
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178550254:178550254(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.86661T>C
Mutation Classification Silent
Feature Type Transcript
ID 635
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178739424:178739424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770564701
CDS Mutation c.12858G>A
Mutation Classification Silent
Feature Type Transcript
ID 636
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178730130:178730130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17319T>C
Mutation Classification Silent
Feature Type Transcript
ID 637
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178575995:178575995(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770349910
CDS Mutation c.65214C>T
Mutation Classification Silent
Feature Type Transcript
ID 638
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782990:178782990(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757569345
CDS Mutation c.2916G>A
Mutation Classification Silent
Feature Type Transcript
ID 639
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178564835:178564835(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505134
CDS Mutation c.76374T>C
Mutation Classification Silent
Feature Type Transcript
ID 640
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178570070:178570070(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71139C>T
Mutation Classification Silent
Feature Type Transcript
ID 641
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178539749:178539749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93393T>G
Mutation Classification Silent
Feature Type Transcript
ID 642
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731366:178731366(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16449T>C
Mutation Classification Silent
Feature Type Transcript
ID 643
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178576614:178576614(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777602537
CDS Mutation c.64707C>T
Mutation Classification Silent
Feature Type Transcript
ID 644
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572380:178572380(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68829A>G
Mutation Classification Silent
Feature Type Transcript
ID 645
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178636474:178636474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36330C>T
Mutation Classification Silent
Feature Type Transcript
ID 646
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178608311:178608311(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47649G>C
Mutation Classification Silent
Feature Type Transcript
ID 647
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178739664:178739664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12618A>G
Mutation Classification Silent
Feature Type Transcript
ID 648
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178722022:178722022(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21690T>G
Mutation Classification Silent
Feature Type Transcript
ID 649
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178800594:178800594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.384T>C
Mutation Classification Silent
Feature Type Transcript
ID 650
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178530679:178530679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101013A>G
Mutation Classification Silent
Feature Type Transcript
ID 651
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178561034:178561034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80175T>C
Mutation Classification Silent
Feature Type Transcript
ID 652
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178576250:178576250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376056197
CDS Mutation c.64959C>T
Mutation Classification Silent
Feature Type Transcript
ID 653
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632545:178632545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38538T>C
Mutation Classification Silent
Feature Type Transcript
ID 654
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776023:178776023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5841T>C
Mutation Classification Silent
Feature Type Transcript
ID 655
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178735914:178735914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13581C>T
Mutation Classification Silent
Feature Type Transcript
ID 656
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632581:178632581(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38502A>G
Mutation Classification Silent
Feature Type Transcript
ID 657
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178574765:178574765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66444C>T
Mutation Classification Silent
Feature Type Transcript
ID 658
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178620351:178620351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747163190
CDS Mutation c.41247G>A
Mutation Classification Silent
Feature Type Transcript
ID 659
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178542414:178542414(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92419C>T
Mutation Classification Silent
Feature Type Transcript
ID 660
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178633468:178633468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550471556
CDS Mutation c.37968C>T
Mutation Classification Silent
Feature Type Transcript
ID 661
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178679349:178679349(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190604150
CDS Mutation c.32781G>A
Mutation Classification Silent
Feature Type Transcript
ID 662
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178729558:178729558(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.17647delA
AA Mutation p.Thr5883ProfsTer6(p.T5883Pfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 663
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178704587:178704587(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.28934delA
AA Mutation p.Asn9645ThrfsTer23(p.N9645Tfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 664
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178768777:178768777(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.9059delA
AA Mutation p.Lys3020SerfsTer6(p.K3020Sfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 665
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178620989:178620989(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.40698delA
AA Mutation p.Lys13566AsnfsTer5(p.K13566Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 666
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178795136:178795136(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1031delC
AA Mutation p.Pro344LeufsTer16(p.P344Lfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 667
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178621964:178621964(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.40035delA
AA Mutation p.Lys13345AsnfsTer30(p.K13345Nfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 668
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178784146:178784146(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2699delA
AA Mutation p.Lys900ArgfsTer3(p.K900Rfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 669
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178725998:178725998(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.19373delA
AA Mutation p.Asn6458MetfsTer74(p.N6458Mfs*74)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 670
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178538607:178538607(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.94299delT
AA Mutation p.Phe31433LeufsTer8(p.F31433Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 671
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178671133:178671133(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.34143delA
AA Mutation p.Lys11381AsnfsTer25(p.K11381Nfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 672
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178770302:178770302(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8399delA
AA Mutation p.Lys2800SerfsTer5(p.K2800Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 673
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178733099:178733099(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.15126delT
AA Mutation p.Phe5042LeufsTer28(p.F5042Lfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 674
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178573214:178573214(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.67995delT
AA Mutation p.Ser22665ArgfsTer97(p.S22665Rfs*97)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 675
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178706498:178706523(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.28400_28425delTTAACTTACAGGTGGATGAAAGGAAG
AA Mutation p.Val9467GlufsTer6(p.V9467Efs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 676
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178588185:178588185(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.58299delT
AA Mutation p.Asp19434IlefsTer7(p.D19434Ifs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 677
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178560087:178560087(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.81122delC
AA Mutation p.Pro27041ArgfsTer2(p.P27041Rfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 678
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178605095:178605095(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.49159delA
AA Mutation p.Thr16387LeufsTer57(p.T16387Lfs*57)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 679
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178530862:178530862(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.100830delA
AA Mutation p.Lys33610AsnfsTer3(p.K33610Nfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 680
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178783054:178783054(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2852delA
AA Mutation p.Asn951MetfsTer2(p.N951Mfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 681
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178621974:178621975(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.40024_40025delAA
AA Mutation p.Lys13342GlyfsTer5(p.K13342Gfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 682
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178533443:178533443(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.98249delC
AA Mutation p.Pro32750HisfsTer4(p.P32750Hfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 683
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178531853:178531856(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.99836_99839delCTCA
AA Mutation p.Thr33279ArgfsTer11(p.T33279Rfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 684
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178641266:178641266(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.35685delA
AA Mutation p.Lys11895AsnfsTer2(p.K11895Nfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 685
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178776722:178776732(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5132_5142delCCTTAAGACTT
AA Mutation p.Ser1711Ter(p.S1711*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 686
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178529122:178529122(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.101706delA
AA Mutation p.Ala33903ProfsTer2(p.A33903Pfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 687
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178773582:178773582(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7474delC
AA Mutation p.Gln2492ArgfsTer4(p.Q2492Rfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 688
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178640571:178640571(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.35770delA
AA Mutation p.Arg11924GlyfsTer33(p.R11924Gfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 689
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178726033:178726033(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.19338delT
AA Mutation p.Phe6446LeufsTer7(p.F6446Lfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 690
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178658728:178658728(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.34331delA
AA Mutation p.Lys11444SerfsTer127(p.K11444Sfs*127)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 691
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178585295:178585295(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.59526delA
AA Mutation p.Lys19842AsnfsTer42(p.K19842Nfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 692
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178769779:178769779(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8802delA
AA Mutation p.Lys2934AsnfsTer5(p.K2934Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 693
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178573306:178573306(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.67903delA
AA Mutation p.Thr22635LeufsTer5(p.T22635Lfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 694
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178719598:178719598(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.22943delA
AA Mutation p.Asn7648ThrfsTer27(p.N7648Tfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 695
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178678825:178678825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32797G>T
AA Mutation p.Glu10933Ter(p.E10933*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 696
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178718583:178718583(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23572A>T
AA Mutation p.Lys7858Ter(p.K7858*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 697
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178589954:178589954(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.56848G>T
AA Mutation p.Glu18950Ter(p.E18950*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 698
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178609301:178609301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47086C>T
AA Mutation p.Arg15696Ter(p.R15696*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 699
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178533734:178533734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97958C>A
AA Mutation p.Ser32653Ter(p.S32653*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 700
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178533512:178533512(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98180T>G
AA Mutation p.Leu32727Ter(p.L32727*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 701
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178682856:178682856(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31984G>T
AA Mutation p.Glu10662Ter(p.E10662*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 702
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178724117:178724117(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770579313
CDS Mutation c.20191C>T
AA Mutation p.Arg6731Ter(p.R6731*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 703
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178532815:178532815(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98877G>A
AA Mutation p.Trp32959Ter(p.W32959*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 704
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178572562:178572562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68647C>T
AA Mutation p.Gln22883Ter(p.Q22883*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 705
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178706566:178706566(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28357C>T
AA Mutation p.Arg9453Ter(p.R9453*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 706
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178587708:178587708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764243269
CDS Mutation c.58678C>T
AA Mutation p.Arg19560Ter(p.R19560*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 707
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178601337:178601337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50737C>T
AA Mutation p.Arg16913Ter(p.R16913*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 708
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178557086:178557086(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.83145G>A
AA Mutation p.Trp27715Ter(p.W27715*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 709
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178589219:178589219(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757231565
CDS Mutation c.57583C>T
AA Mutation p.Arg19195Ter(p.R19195*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 710
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178591389:178591389(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55413G>A
AA Mutation p.Trp18471Ter(p.W18471*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 711
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178559368:178559368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81841G>T
AA Mutation p.Glu27281Ter(p.E27281*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 712
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178591825:178591825(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55071G>A
AA Mutation p.Trp18357Ter(p.W18357*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 713
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178570307:178570307(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.70902T>A
AA Mutation p.Tyr23634Ter(p.Y23634*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 714
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000591111
Start 178633324:178633324(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38026C>T
AA Mutation p.Arg12676Ter(p.R12676*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 715
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178563892:178563892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766840243
CDS Mutation c.77317C>T
AA Mutation p.Arg25773Ter(p.R25773*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 716
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178551787:178551787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86190G>A
AA Mutation p.Trp28730Ter(p.W28730*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 717
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178599713:178599713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51265G>T
AA Mutation p.Glu17089Ter(p.E17089*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 718
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178614613:178614613(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43978C>T
AA Mutation p.Gln14660Ter(p.Q14660*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 719
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178534251:178534251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97441G>T
AA Mutation p.Gly32481Ter(p.G32481*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 720
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178732312:178732312(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15706C>T
AA Mutation p.Gln5236Ter(p.Q5236*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 721
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178548487:178548487(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88216C>T
AA Mutation p.Arg29406Ter(p.R29406*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 722
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178528367:178528367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102361C>T
AA Mutation p.Arg34121Ter(p.R34121*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 723
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178715242:178715243(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.24992dupA
AA Mutation p.Pro8332AlafsTer11(p.P8332Afs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 724
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178533442:178533443(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.98249dupC
AA Mutation p.Pro32751ThrfsTer17(p.P32751Tfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 725
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178536269:178536270(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.95554dupA
AA Mutation p.Ile31852AsnfsTer7(p.I31852Nfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 726
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178671132:178671133(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.34143dupA
AA Mutation p.Pro11382ThrfsTer4(p.P11382Tfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 727
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178792175:178792176(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1558dupA
AA Mutation p.Thr520AsnfsTer12(p.T520Nfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 728
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178672653:178672654(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.33714dupA
AA Mutation p.Glu11239ArgfsTer9(p.E11239Rfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 729
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178565913:178565914(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.75295dupA
AA Mutation p.Thr25099AsnfsTer4(p.T25099Nfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 730
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178624556:178624557(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.39800_39801insC
AA Mutation p.Lys13267AsnfsTer6(p.K13267Nfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 731
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178681135:178681136(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.32332dupA
AA Mutation p.Ile10778AsnfsTer9(p.I10778Nfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 732
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178579938:178579938(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758279518
CDS Mutation c.62425+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 733
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178607019:178607019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48658+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 734
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178769678:178769678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770392096
CDS Mutation c.8902+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 735
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178610089:178610089(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761807131
CDS Mutation c.46513+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 736
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178615789:178615789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43390-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 737
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178794920:178794920(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1245+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
ID 738
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178607215:178607253(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.48426_48464delTAACTGGTCTGATCCAGAAGATGATGGAGGAAGTGAAAT
AA Mutation p.Asn16143_Ile16155del(p.N16143_I16155del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 739
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178620287:178620289(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs750724970
CDS Mutation c.41309_41311delCCT
AA Mutation p.Ser13770del(p.S13770del)
Mutation Classification In_Frame_Del
Feature Type Transcript