Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FAT4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125476195:125476195(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12232T>C
AA Mutation p.Cys4078Arg(p.C4078R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320904:125320904(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4493C>G
AA Mutation p.Ala1498Gly(p.A1498G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125408534:125408534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5660G>A
AA Mutation p.Gly1887Asp(p.G1887D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450690:125450690(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9674C>G
AA Mutation p.Thr3225Arg(p.T3225R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451177:125451177(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10161T>A
AA Mutation p.Asp3387Glu(p.D3387E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318746:125318746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2335G>T
AA Mutation p.Val779Leu(p.V779L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319123:125319123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2712G>T
AA Mutation p.Glu904Asp(p.E904D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320438:125320438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4027G>A
AA Mutation p.Asp1343Asn(p.D1343N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125406935:125406935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5363G>A
AA Mutation p.Arg1788His(p.R1788H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125407015:125407015(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766427266
CDS Mutation c.5443C>T
AA Mutation p.Arg1815Cys(p.R1815C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415250:125415250(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6287A>C
AA Mutation p.Lys2096Thr(p.K2096T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415421:125415421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6458T>A
AA Mutation p.Ile2153Asn(p.I2153N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125446517:125446517(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7418C>T
AA Mutation p.Thr2473Ile(p.T2473I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449794:125449794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8778G>T
AA Mutation p.Glu2926Asp(p.E2926D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449928:125449928(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8912T>C
AA Mutation p.Ile2971Thr(p.I2971T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451665:125451665(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752223574
CDS Mutation c.10649G>A
AA Mutation p.Ser3550Asn(p.S3550N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319014:125319014(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2603C>T
AA Mutation p.Ala868Val(p.A868V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319013:125319013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2602G>T
AA Mutation p.Ala868Ser(p.A868S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491217:125491217(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199895179
CDS Mutation c.14395C>T
AA Mutation p.Arg4799Cys(p.R4799C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490695:125490695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746747643
CDS Mutation c.13873G>A
AA Mutation p.Ala4625Thr(p.A4625T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452319:125452319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540725305
CDS Mutation c.11303G>A
AA Mutation p.Arg3768Gln(p.R3768Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490171:125490171(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13349C>T
AA Mutation p.Thr4450Ile(p.T4450I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317759:125317759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1348G>A
AA Mutation p.Ala450Thr(p.A450T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316776:125316776(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751046172
CDS Mutation c.365G>A
AA Mutation p.Arg122Gln(p.R122Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319368:125319368(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs192514171
CDS Mutation c.2957T>C
AA Mutation p.Val986Ala(p.V986A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450381:125450381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9365G>A
AA Mutation p.Gly3122Asp(p.G3122D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125406889:125406889(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750458935
CDS Mutation c.5317G>A
AA Mutation p.Ala1773Thr(p.A1773T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452768:125452768(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11752T>A
AA Mutation p.Phe3918Ile(p.F3918I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320321:125320321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3910G>T
AA Mutation p.Asp1304Tyr(p.D1304Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321011:125321011(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4600G>A
AA Mutation p.Ala1534Thr(p.A1534T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321335:125321335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4924G>A
AA Mutation p.Glu1642Lys(p.E1642K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125414965:125414965(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6002A>G
AA Mutation p.Lys2001Arg(p.K2001R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449797:125449797(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8781T>G
AA Mutation p.Ile2927Met(p.I2927M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451527:125451527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10511A>C
AA Mutation p.Asn3504Thr(p.N3504T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451529:125451529(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10513G>T
AA Mutation p.Asp3505Tyr(p.D3505Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318362:125318362(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1951G>A
AA Mutation p.Glu651Lys(p.E651K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491581:125491581(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14759A>C
AA Mutation p.Lys4920Thr(p.K4920T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317012:125317012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.601C>T
AA Mutation p.His201Tyr(p.H201Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317229:125317229(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.818C>T
AA Mutation p.Ala273Val(p.A273V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125407095:125407095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5523T>G
AA Mutation p.Phe1841Leu(p.F1841L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449628:125449628(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8612G>T
AA Mutation p.Arg2871Ile(p.R2871I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450350:125450350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9334T>G
AA Mutation p.Ser3112Ala(p.S3112A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450881:125450881(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751518711
CDS Mutation c.9865A>C
AA Mutation p.Lys3289Gln(p.K3289Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490831:125490831(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14009G>T
AA Mutation p.Ser4670Ile(p.S4670I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125481563:125481563(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148170326
CDS Mutation c.12641G>A
AA Mutation p.Arg4214His(p.R4214H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415388:125415388(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6425T>G
AA Mutation p.Val2142Gly(p.V2142G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452007:125452007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10991G>T
AA Mutation p.Gly3664Val(p.G3664V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125416589:125416589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148293496
CDS Mutation c.6985C>T
AA Mutation p.Arg2329Cys(p.R2329C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317760:125317760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1349C>T
AA Mutation p.Ala450Val(p.A450V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451539:125451539(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10523C>A
AA Mutation p.Pro3508His(p.P3508H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317427:125317427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1016C>T
AA Mutation p.Ala339Val(p.A339V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321363:125321363(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4952T>C
AA Mutation p.Ile1651Thr(p.I1651T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490502:125490502(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13680C>A
AA Mutation p.Asp4560Glu(p.D4560E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125468685:125468685(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12073T>A
AA Mutation p.Phe4025Ile(p.F4025I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449634:125449634(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8618G>A
AA Mutation p.Ser2873Asn(p.S2873N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316418:125316418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7T>G
AA Mutation p.Leu3Val(p.L3V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125446316:125446316(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7217C>T
AA Mutation p.Ser2406Phe(p.S2406F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317177:125317177(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.766C>A
AA Mutation p.Gln256Lys(p.Q256K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125468614:125468614(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12002A>C
AA Mutation p.Lys4001Thr(p.K4001T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451034:125451034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10018A>G
AA Mutation p.Asn3340Asp(p.N3340D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415637:125415637(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs188934368
CDS Mutation c.6674A>C
AA Mutation p.Tyr2225Ser(p.Y2225S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450015:125450015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8999C>T
AA Mutation p.Thr3000Met(p.T3000M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316805:125316805(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.394G>A
AA Mutation p.Ala132Thr(p.A132T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452601:125452601(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11585A>T
AA Mutation p.Asp3862Val(p.D3862V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317430:125317430(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1019T>C
AA Mutation p.Leu340Pro(p.L340P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125446360:125446360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776977766
CDS Mutation c.7261G>A
AA Mutation p.Ala2421Thr(p.A2421T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125468545:125468545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11933A>G
AA Mutation p.Tyr3978Cys(p.Y3978C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125408759:125408759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5885C>T
AA Mutation p.Thr1962Ile(p.T1962I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451215:125451215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10199A>G
AA Mutation p.Asp3400Gly(p.D3400G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316646:125316646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.235G>A
AA Mutation p.Ala79Thr(p.A79T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491038:125491038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14216A>T
AA Mutation p.Gln4739Leu(p.Q4739L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415673:125415673(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6710C>T
AA Mutation p.Thr2237Ile(p.T2237I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320639:125320639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781736766
CDS Mutation c.4228G>A
AA Mutation p.Val1410Met(p.V1410M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451148:125451148(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10132T>G
AA Mutation p.Phe3378Val(p.F3378V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451677:125451677(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10661C>A
AA Mutation p.Ala3554Asp(p.A3554D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490648:125490648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13826C>T
AA Mutation p.Pro4609Leu(p.P4609L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316947:125316947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.536G>A
AA Mutation p.Gly179Asp(p.G179D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125434380:125434380(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7154T>C
AA Mutation p.Leu2385Ser(p.L2385S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451631:125451631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10615C>A
AA Mutation p.Pro3539Thr(p.P3539T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125406944:125406944(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5372C>A
AA Mutation p.Pro1791Gln(p.P1791Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318606:125318606(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2195A>G
AA Mutation p.Asp732Gly(p.D732G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321561:125321561(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5150C>T
AA Mutation p.Ala1717Val(p.A1717V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491550:125491550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14728C>T
AA Mutation p.Pro4910Ser(p.P4910S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125408486:125408486(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5612G>C
AA Mutation p.Gly1871Ala(p.G1871A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317310:125317310(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.899C>A
AA Mutation p.Pro300His(p.P300H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449004:125449004(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750389398
CDS Mutation c.7988A>G
AA Mutation p.Asn2663Ser(p.N2663S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320301:125320301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3890C>T
AA Mutation p.Ser1297Leu(p.S1297L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319842:125319842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3431C>A
AA Mutation p.Pro1144Gln(p.P1144Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451863:125451863(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111423173
CDS Mutation c.10847C>T
AA Mutation p.Thr3616Met(p.T3616M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318425:125318425(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772308456
CDS Mutation c.2014A>G
AA Mutation p.Met672Val(p.M672V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449984:125449984(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8968A>G
AA Mutation p.Thr2990Ala(p.T2990A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452310:125452310(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11294C>T
AA Mutation p.Ala3765Val(p.A3765V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317478:125317478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1067G>A
AA Mutation p.Arg356His(p.R356H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490313:125490313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13491G>T
AA Mutation p.Glu4497Asp(p.E4497D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316994:125316994(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.583G>T
AA Mutation p.Gly195Cys(p.G195C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491380:125491380(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14558T>C
AA Mutation p.Met4853Thr(p.M4853T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415151:125415151(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6188C>A
AA Mutation p.Thr2063Lys(p.T2063K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450338:125450338(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9322G>A
AA Mutation p.Val3108Ile(p.V3108I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451676:125451676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10660G>A
AA Mutation p.Ala3554Thr(p.A3554T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451166:125451166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10150G>T
AA Mutation p.Ala3384Ser(p.A3384S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320908:125320908(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4497T>A
AA Mutation p.Asn1499Lys(p.N1499K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490910:125490910(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14088C>A
AA Mutation p.Asn4696Lys(p.N4696K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125414931:125414931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5968G>A
AA Mutation p.Gly1990Arg(p.G1990R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450990:125450990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9974G>A
AA Mutation p.Arg3325His(p.R3325H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319793:125319793(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3382G>T
AA Mutation p.Asp1128Tyr(p.D1128Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320270:125320270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3859G>T
AA Mutation p.Ala1287Ser(p.A1287S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321390:125321390(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4979A>T
AA Mutation p.Glu1660Val(p.E1660V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000394329
Start 125408446:125408446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5572T>C
AA Mutation p.Ser1858Pro(p.S1858P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415548:125415548(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6585T>G
AA Mutation p.Asn2195Lys(p.N2195K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450165:125450165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9149A>G
AA Mutation p.Asp3050Gly(p.D3050G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490489:125490489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13667T>G
AA Mutation p.Phe4556Cys(p.F4556C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491352:125491352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14530T>C
AA Mutation p.Ser4844Pro(p.S4844P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320646:125320646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4235A>T
AA Mutation p.Asp1412Val(p.D1412V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125406989:125406989(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781638960
CDS Mutation c.5417G>A
AA Mutation p.Arg1806His(p.R1806H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490359:125490359(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369929089
CDS Mutation c.13537G>A
AA Mutation p.Ala4513Thr(p.A4513T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318198:125318198(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1787C>T
AA Mutation p.Ala596Val(p.A596V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449043:125449043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8027C>A
AA Mutation p.Ser2676Tyr(p.S2676Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451041:125451041(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769028469
CDS Mutation c.10025G>A
AA Mutation p.Arg3342Gln(p.R3342Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452504:125452504(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571765492
CDS Mutation c.11488C>T
AA Mutation p.Arg3830Cys(p.R3830C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125489971:125489971(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13149C>A
AA Mutation p.Ser4383Arg(p.S4383R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491579:125491579(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759266412
CDS Mutation c.14757G>T
AA Mutation p.Met4919Ile(p.M4919I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317271:125317271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.860A>G
AA Mutation p.Tyr287Cys(p.Y287C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318659:125318659(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2248G>A
AA Mutation p.Ala750Thr(p.A750T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319028:125319028(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2617G>A
AA Mutation p.Val873Met(p.V873M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319133:125319133(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2722G>A
AA Mutation p.Ala908Thr(p.A908T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450869:125450869(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9853A>G
AA Mutation p.Asn3285Asp(p.N3285D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490531:125490531(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13709C>T
AA Mutation p.Thr4570Ile(p.T4570I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318537:125318537(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781771280
CDS Mutation c.2126C>T
AA Mutation p.Thr709Ile(p.T709I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319605:125319605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3194G>A
AA Mutation p.Arg1065Lys(p.R1065K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452195:125452195(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11179A>G
AA Mutation p.Thr3727Ala(p.T3727A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491461:125491461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14639A>G
AA Mutation p.Asp4880Gly(p.D4880G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125408635:125408635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370906656
CDS Mutation c.5761G>A
AA Mutation p.Gly1921Ser(p.G1921S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451842:125451842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10826A>G
AA Mutation p.Asp3609Gly(p.D3609G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318830:125318830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2419G>A
AA Mutation p.Ala807Thr(p.A807T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491438:125491438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14616A>C
AA Mutation p.Gln4872His(p.Q4872H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316764:125316764(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.353C>A
AA Mutation p.Pro118His(p.P118H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449887:125449887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8871T>A
AA Mutation p.Asp2957Glu(p.D2957E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316962:125316962(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.551G>A
AA Mutation p.Arg184His(p.R184H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415603:125415603(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149686118
CDS Mutation c.6640G>A
AA Mutation p.Ala2214Thr(p.A2214T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320439:125320439(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4028A>C
AA Mutation p.Asp1343Ala(p.D1343A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449795:125449795(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8779A>G
AA Mutation p.Ile2927Val(p.I2927V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415192:125415192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6229C>A
AA Mutation p.Pro2077Thr(p.P2077T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415193:125415193(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6230C>G
AA Mutation p.Pro2077Arg(p.P2077R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318428:125318428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2017G>A
AA Mutation p.Ala673Thr(p.A673T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321447:125321447(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201292031
CDS Mutation c.5036G>A
AA Mutation p.Arg1679His(p.R1679H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125407016:125407016(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774484692
CDS Mutation c.5444G>A
AA Mutation p.Arg1815His(p.R1815H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125448932:125448932(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7916T>A
AA Mutation p.Ile2639Lys(p.I2639K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125487400:125487400(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12872A>T
AA Mutation p.Glu4291Val(p.E4291V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321446:125321446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569440986
CDS Mutation c.5035C>T
AA Mutation p.Arg1679Cys(p.R1679C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450880:125450880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9864A>C
AA Mutation p.Leu3288Phe(p.L3288F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321503:125321503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755643759
CDS Mutation c.5092C>T
AA Mutation p.Arg1698Trp(p.R1698W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317360:125317360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775610806
CDS Mutation c.949C>T
AA Mutation p.Arg317Cys(p.R317C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125434330:125434330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769986576
CDS Mutation c.7104G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 154
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125319156:125319156(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2745C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 155
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125452551:125452551(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11535T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 156
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125451666:125451666(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10650C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 157
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125487494:125487494(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12966A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 158
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125491645:125491645(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14823C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 159
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125318019:125318019(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1608C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 160
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125450283:125450283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9267C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 161
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125452185:125452185(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148631233
CDS Mutation c.11169G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 162
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317419:125317419(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1008C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 163
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125477197:125477197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12336C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 164
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125450835:125450835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9819C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 165
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125448546:125448546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7530T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 166
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125415353:125415353(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6390T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 167
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317509:125317509(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374401618
CDS Mutation c.1098G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 168
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125319564:125319564(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372689449
CDS Mutation c.3153A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 169
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125451504:125451504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10488A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 170
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125491438:125491438(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761187408
CDS Mutation c.14616A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 171
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317773:125317773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1362G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 172
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317260:125317260(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.849G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 173
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317422:125317422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1011C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 174
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125490649:125490649(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13827T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 175
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125477230:125477230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12369A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 176
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125416498:125416498(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6894T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 177
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125452011:125452011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10995T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 178
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125319327:125319327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2916T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 179
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317407:125317407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.996C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 180
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317398:125317398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201547149
CDS Mutation c.987C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 181
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317998:125317998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770456067
CDS Mutation c.1587C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 182
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125318736:125318736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2325C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 183
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125490916:125490916(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14094G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 184
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125321244:125321244(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4833G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 185
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125448477:125448477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746567486
CDS Mutation c.7461G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 186
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125490415:125490415(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13593G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 187
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125468624:125468624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368157923
CDS Mutation c.12012G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 188
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317329:125317329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749113024
CDS Mutation c.918G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 189
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125415602:125415602(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759154801
CDS Mutation c.6639C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 190
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125319861:125319861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3450C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 191
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125318043:125318043(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1632T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 192
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317866:125317866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1455C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 193
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125491450:125491450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14628T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 194
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125452581:125452581(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771156712
CDS Mutation c.11565G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 195
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125490247:125490247(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13428delG
AA Mutation p.Lys4477ArgfsTer15(p.K4477Rfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 196
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125490431:125490431(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13611delC
AA Mutation p.Glu4539ArgfsTer31(p.E4539Rfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 197
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125451179:125451179(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.10163delA
AA Mutation p.Glu3388GlyfsTer4(p.E3388Gfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 198
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125490411:125490411(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13593delG
AA Mutation p.Lys4532ArgfsTer38(p.K4532Rfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 199
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125491536:125491536(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.14716delC
AA Mutation p.Gln4906ArgfsTer14(p.Q4906Rfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 200
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125452212:125452212(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.11201delT
AA Mutation p.Leu3734TyrfsTer8(p.L3734Yfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 201
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125451679:125451679(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10663delA
AA Mutation p.Thr3555ProfsTer6(p.T3555Pfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 202
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125319790:125319790(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3381delA
AA Mutation p.Asp1128ThrfsTer8(p.D1128Tfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 203
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125448787:125448787(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7771G>T
AA Mutation p.Gly2591Ter(p.G2591*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 204
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125490674:125490674(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13852G>T
AA Mutation p.Glu4618Ter(p.E4618*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 205
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125452434:125452434(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11418T>A
AA Mutation p.Cys3806Ter(p.C3806*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 206
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125406952:125406952(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5380G>T
AA Mutation p.Gly1794Ter(p.G1794*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 207
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125452647:125452647(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11631T>A
AA Mutation p.Cys3877Ter(p.C3877*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 208
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125490476:125490476(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13654G>T
AA Mutation p.Glu4552Ter(p.E4552*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 209
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125452471:125452471(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398122957
CDS Mutation c.11455C>T
AA Mutation p.Arg3819Ter(p.R3819*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 210
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125452318:125452318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761118468
CDS Mutation c.11302C>T
AA Mutation p.Arg3768Ter(p.R3768*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 211
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125319562:125319562(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3151C>T
AA Mutation p.Gln1051Ter(p.Q1051*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 212
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125320927:125320927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4516G>T
AA Mutation p.Glu1506Ter(p.E1506*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 213
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125415294:125415294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6331G>T
AA Mutation p.Glu2111Ter(p.E2111*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 214
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125449186:125449186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8170G>T
AA Mutation p.Glu2724Ter(p.E2724*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 215
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125451427:125451427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10411G>T
AA Mutation p.Glu3471Ter(p.E3471*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 216
Mutation Consequence stop_gained;inframe_insertion
Transcription ID ENST00000394329
Start 125477286:125477287(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12425_12426insATATAAATATTA
AA Mutation p.Arg4142_Pro4143insTyrLysTyrTer(p.R4142_P4143insYKY*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 217
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125321095:125321095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4684G>T
AA Mutation p.Glu1562Ter(p.E1562*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 218
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125448571:125448572(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7559dupG
AA Mutation p.Ala2521SerfsTer37(p.A2521Sfs*37)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 219
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125490410:125490411(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.13593dupG
AA Mutation p.Lys4532GlufsTer21(p.K4532Efs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 220
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125319867:125319868(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3460dupG
AA Mutation p.Glu1154GlyfsTer9(p.E1154Gfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 221
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125452211:125452212(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.11201dupT
AA Mutation p.Leu3734PhefsTer22(p.L3734Ffs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 222
Mutation Consequence frameshift_variant
Transcription ID ENST00000394329
Start 125451831:125451832(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10815_10816insAGTAAAGG
AA Mutation p.Asp3606SerfsTer31(p.D3606Sfs*31)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 223
Mutation Consequence inframe_insertion
Transcription ID ENST00000394329
Start 125477287:125477288(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12426_12427insTGT
AA Mutation p.Arg4142_Pro4143insCys(p.R4142_P4143insC)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> FAT4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319092:125319092(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2681T>G
AA Mutation p.Leu894Arg(p.L894R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125321422:125321422(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373116363
CDS Mutation c.5011C>T
AA Mutation p.Arg1671Cys(p.R1671C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450839:125450839(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775681328
CDS Mutation c.9823G>A
AA Mutation p.Asp3275Asn(p.D3275N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490442:125490442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13620G>T
AA Mutation p.Glu4540Asp(p.E4540D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450639:125450639(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9623C>A
AA Mutation p.Pro3208Gln(p.P3208Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317336:125317336(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770591201
CDS Mutation c.925G>A
AA Mutation p.Glu309Lys(p.E309K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125452493:125452493(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11477T>A
AA Mutation p.Val3826Glu(p.V3826E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490359:125490359(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369929089
CDS Mutation c.13537G>A
AA Mutation p.Ala4513Thr(p.A4513T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125414985:125414985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6022C>T
AA Mutation p.Arg2008Trp(p.R2008W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125316467:125316467(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.56T>C
AA Mutation p.Leu19Pro(p.L19P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491310:125491310(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14488G>T
AA Mutation p.Ala4830Ser(p.A4830S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451078:125451078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10062G>T
AA Mutation p.Gln3354His(p.Q3354H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415135:125415135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6172T>A
AA Mutation p.Tyr2058Asn(p.Y2058N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125490296:125490296(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13474A>T
AA Mutation p.Ser4492Cys(p.S4492C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125477211:125477211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12350C>A
AA Mutation p.Pro4117Gln(p.P4117Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125448553:125448553(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7537T>G
AA Mutation p.Phe2513Val(p.F2513V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451634:125451634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10618A>G
AA Mutation p.Asn3540Asp(p.N3540D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450705:125450705(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373873722
CDS Mutation c.9689C>T
AA Mutation p.Ala3230Val(p.A3230V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319824:125319824(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3413C>G
AA Mutation p.Ser1138Cys(p.S1138C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125451097:125451097(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10081C>G
AA Mutation p.Leu3361Val(p.L3361V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125317376:125317376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.965C>T
AA Mutation p.Thr322Met(p.T322M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491178:125491178(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138173652
CDS Mutation c.14356G>A
AA Mutation p.Gly4786Arg(p.G4786R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415427:125415427(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6464C>T
AA Mutation p.Ala2155Val(p.A2155V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491668:125491668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14846A>C
AA Mutation p.Asp4949Ala(p.D4949A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125481685:125481685(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143513466
CDS Mutation c.12763G>A
AA Mutation p.Glu4255Lys(p.E4255K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125318432:125318432(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759309740
CDS Mutation c.2021G>A
AA Mutation p.Arg674His(p.R674H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319739:125319739(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377275274
CDS Mutation c.3328G>A
AA Mutation p.Glu1110Lys(p.E1110K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415603:125415603(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149686118
CDS Mutation c.6640G>A
AA Mutation p.Ala2214Thr(p.A2214T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000394329
Start 125434425:125434425(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7199G>T
AA Mutation p.Arg2400Met(p.R2400M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125448640:125448640(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7624G>T
AA Mutation p.Asp2542Tyr(p.D2542Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125448898:125448898(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7882G>T
AA Mutation p.Asp2628Tyr(p.D2628Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125450376:125450376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9360G>T
AA Mutation p.Met3120Ile(p.M3120I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125468630:125468630(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12018A>C
AA Mutation p.Lys4006Asn(p.K4006N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125487375:125487375(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149301924
CDS Mutation c.12847G>A
AA Mutation p.Asp4283Asn(p.D4283N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125449807:125449807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8791C>A
AA Mutation p.Gln2931Lys(p.Q2931K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125415576:125415576(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6613G>A
AA Mutation p.Asp2205Asn(p.D2205N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125319755:125319755(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3344C>T
AA Mutation p.Ala1115Val(p.A1115V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125491542:125491542(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373253210
CDS Mutation c.14720C>T
AA Mutation p.Ala4907Val(p.A4907V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000394329
Start 125320646:125320646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4235A>T
AA Mutation p.Asp1412Val(p.D1412V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125319537:125319537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3126T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125320356:125320356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3945C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317029:125317029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.618C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125490277:125490277(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776669972
CDS Mutation c.13455G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317596:125317596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1185C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125490694:125490694(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369989432
CDS Mutation c.13872C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125491141:125491141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14319G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125317656:125317656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1245G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125446359:125446359(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147010455
CDS Mutation c.7260C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125450031:125450031(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9015T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000394329
Start 125450736:125450736(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9720C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125468709:125468709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12097G>T
AA Mutation p.Glu4033Ter(p.E4033*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000394329
Start 125481601:125481602(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.12680dupA
AA Mutation p.Tyr4227Ter(p.Y4227*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000394329
Start 125451424:125451424(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10408C>T
AA Mutation p.Arg3470Ter(p.R3470*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript