Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NEB

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151518368:151518368(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758761216
CDS Mutation c.17647G>A
AA Mutation p.Asp5883Asn(p.D5883N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151519753:151519753(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17392A>C
AA Mutation p.Asn5798His(p.N5798H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151534229:151534229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771186380
CDS Mutation c.16300G>A
AA Mutation p.Asp5434Asn(p.D5434N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151570142:151570142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752014573
CDS Mutation c.12266C>T
AA Mutation p.Thr4089Ile(p.T4089I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151656412:151656412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760134969
CDS Mutation c.6236G>A
AA Mutation p.Arg2079His(p.R2079H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666350:151666350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4771C>A
AA Mutation p.Leu1591Ile(p.L1591I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151672552:151672552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4116G>T
AA Mutation p.Lys1372Asn(p.K1372N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151687695:151687695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2454G>T
AA Mutation p.Lys818Asn(p.K818N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151694370:151694370(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1849G>A
AA Mutation p.Asp617Asn(p.D617N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151671141:151671141(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4388C>T
AA Mutation p.Ala1463Val(p.A1463V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151659162:151659162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5978A>T
AA Mutation p.Tyr1993Phe(p.Y1993F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151546356:151546356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15352C>T
AA Mutation p.Arg5118Trp(p.R5118W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151570313:151570313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12095G>T
AA Mutation p.Arg4032Leu(p.R4032L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151537963:151537963(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15908A>T
AA Mutation p.Glu5303Val(p.E5303V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151656259:151656259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6389C>T
AA Mutation p.Ala2130Val(p.A2130V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151662328:151662328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5777C>T
AA Mutation p.Ala1926Val(p.A1926V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151687458:151687458(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2598G>T
AA Mutation p.Lys866Asn(p.K866N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151656335:151656335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6313A>G
AA Mutation p.Asn2105Asp(p.N2105D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151677699:151677699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764769462
CDS Mutation c.3640G>A
AA Mutation p.Glu1214Lys(p.E1214K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151694421:151694421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1798G>T
AA Mutation p.Asp600Tyr(p.D600Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151695634:151695634(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1618C>T
AA Mutation p.Pro540Ser(p.P540S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151485767:151485767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20003C>T
AA Mutation p.Ala6668Val(p.A6668V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151492476:151492476(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19216T>C
AA Mutation p.Phe6406Leu(p.F6406L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151694435:151694435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1784T>C
AA Mutation p.Val595Ala(p.V595A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151610039:151610039(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11371T>C
AA Mutation p.Cys3791Arg(p.C3791R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151692151:151692151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2014T>G
AA Mutation p.Leu672Val(p.L672V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151614283:151614283(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10865A>G
AA Mutation p.Gln3622Arg(p.Q3622R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151524615:151524615(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17171T>C
AA Mutation p.Val5724Ala(p.V5724A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151665435:151665435(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5136T>G
AA Mutation p.Ser1712Arg(p.S1712R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151671155:151671155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4374G>T
AA Mutation p.Glu1458Asp(p.E1458D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151678073:151678073(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758590520
CDS Mutation c.3370C>T
AA Mutation p.Arg1124Trp(p.R1124W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151723434:151723434(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.665A>C
AA Mutation p.Asn222Thr(p.N222T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151727892:151727892(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93T>G
AA Mutation p.Ile31Met(p.I31M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151692123:151692123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770440960
CDS Mutation c.2042A>T
AA Mutation p.Tyr681Phe(p.Y681F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151546442:151546442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15266T>C
AA Mutation p.Ile5089Thr(p.I5089T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151609981:151609981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11429A>G
AA Mutation p.Lys3810Arg(p.K3810R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151610607:151610607(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11198G>A
AA Mutation p.Gly3733Glu(p.G3733E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151565133:151565133(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13279A>T
AA Mutation p.Thr4427Ser(p.T4427S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151576239:151576239(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374740079
CDS Mutation c.11717G>A
AA Mutation p.Arg3906Gln(p.R3906Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151627525:151627525(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374760449
CDS Mutation c.9412G>A
AA Mutation p.Asp3138Asn(p.D3138N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151568158:151568158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12654G>T
AA Mutation p.Trp4218Cys(p.W4218C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151617446:151617446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10370A>G
AA Mutation p.Asp3457Gly(p.D3457G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151678047:151678047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3396G>T
AA Mutation p.Lys1132Asn(p.K1132N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151609822:151609822(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11588A>C
AA Mutation p.Asp3863Ala(p.D3863A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151672635:151672635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4033G>A
AA Mutation p.Gly1345Ser(p.G1345S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151490400:151490400(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19701C>A
AA Mutation p.Ser6567Arg(p.S6567R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151551799:151551799(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14780C>T
AA Mutation p.Ala4927Val(p.A4927V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151672416:151672416(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4252G>A
AA Mutation p.Ala1418Thr(p.A1418T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151540785:151540785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15596T>C
AA Mutation p.Leu5199Pro(p.L5199P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151553896:151553896(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753229810
CDS Mutation c.14455G>A
AA Mutation p.Glu4819Lys(p.E4819K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151625563:151625563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9694G>A
AA Mutation p.Ala3232Thr(p.A3232T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666280:151666280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4841A>G
AA Mutation p.Tyr1614Cys(p.Y1614C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151695594:151695594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1658C>T
AA Mutation p.Ala553Val(p.A553V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151727833:151727833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773813211
CDS Mutation c.152C>T
AA Mutation p.Ala51Val(p.A51V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151540352:151540352(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15781G>A
AA Mutation p.Ala5261Thr(p.A5261T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151554974:151554974(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369054525
CDS Mutation c.14282C>T
AA Mutation p.Pro4761Leu(p.P4761L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151627789:151627789(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9148G>A
AA Mutation p.Gly3050Arg(p.G3050R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151493376:151493376(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748561855
CDS Mutation c.19174C>T
AA Mutation p.Arg6392Cys(p.R6392C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151516497:151516497(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17764T>C
AA Mutation p.Tyr5922His(p.Y5922H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151490060:151490060(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19747A>C
AA Mutation p.Thr6583Pro(p.T6583P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151514353:151514353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17989C>A
AA Mutation p.Leu5997Ile(p.L5997I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151526041:151526041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16975C>T
AA Mutation p.His5659Tyr(p.H5659Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151531040:151531040(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200104698
CDS Mutation c.16481C>T
AA Mutation p.Thr5494Ile(p.T5494I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151485923:151485923(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368346105
CDS Mutation c.19847G>A
AA Mutation p.Arg6616His(p.R6616H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151537224:151537224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16012G>C
AA Mutation p.Glu5338Gln(p.E5338Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151727828:151727828(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.157G>A
AA Mutation p.Ala53Thr(p.A53T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151525986:151525986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17030T>C
AA Mutation p.Val5677Ala(p.V5677A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151694381:151694381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1838G>T
AA Mutation p.Ser613Ile(p.S613I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151679741:151679741(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3235G>T
AA Mutation p.Ala1079Ser(p.A1079S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151551739:151551739(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780754459
CDS Mutation c.14840C>T
AA Mutation p.Ser4947Leu(p.S4947L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151526204:151526204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767584361
CDS Mutation c.16901C>T
AA Mutation p.Thr5634Met(p.T5634M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151492138:151492138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19449G>A
AA Mutation p.Met6483Ile(p.M6483I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151524601:151524601(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17185G>T
AA Mutation p.Asp5729Tyr(p.D5729Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151545985:151545985(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15377A>G
AA Mutation p.Tyr5126Cys(p.Y5126C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151561092:151561092(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14015A>G
AA Mutation p.Asn4672Ser(p.N4672S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151612275:151612275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759419548
CDS Mutation c.10987C>T
AA Mutation p.Arg3663Cys(p.R3663C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151619546:151619546(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374468605
CDS Mutation c.10048G>A
AA Mutation p.Asp3350Asn(p.D3350N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151640450:151640450(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756745218
CDS Mutation c.8590G>A
AA Mutation p.Asp2864Asn(p.D2864N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151640644:151640644(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757768909
CDS Mutation c.8396G>A
AA Mutation p.Arg2799His(p.R2799H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151650265:151650265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576076237
CDS Mutation c.7342C>T
AA Mutation p.Arg2448Cys(p.R2448C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151650748:151650748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7053G>T
AA Mutation p.Glu2351Asp(p.E2351D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151671042:151671042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4487A>G
AA Mutation p.Asn1496Ser(p.N1496S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151565134:151565134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13278A>C
AA Mutation p.Glu4426Asp(p.E4426D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151612274:151612274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556930902
CDS Mutation c.10988G>A
AA Mutation p.Arg3663His(p.R3663H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151662267:151662267(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5838G>T
AA Mutation p.Glu1946Asp(p.E1946D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151677705:151677705(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779673816
CDS Mutation c.3634G>A
AA Mutation p.Asp1212Asn(p.D1212N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151684812:151684812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2801A>G
AA Mutation p.Asp934Gly(p.D934G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151684965:151684965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751875993
CDS Mutation c.2648G>A
AA Mutation p.Arg883Gln(p.R883Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151691902:151691902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2173G>A
AA Mutation p.Glu725Lys(p.E725K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151692356:151692356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1903T>C
AA Mutation p.Tyr635His(p.Y635H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151694408:151694408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1811A>C
AA Mutation p.Asn604Thr(p.N604T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151627121:151627121(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9499G>T
AA Mutation p.Ala3167Ser(p.A3167S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151679974:151679974(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3091C>T
AA Mutation p.Pro1031Ser(p.P1031S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151724286:151724286(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201433028
CDS Mutation c.586G>A
AA Mutation p.Val196Ile(p.V196I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151538228:151538228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15806C>A
AA Mutation p.Thr5269Lys(p.T5269K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151553904:151553904(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149596493
CDS Mutation c.14447G>A
AA Mutation p.Arg4816His(p.R4816H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151678027:151678027(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs181244403
CDS Mutation c.3416C>T
AA Mutation p.Thr1139Met(p.T1139M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151627616:151627616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9321T>G
AA Mutation p.Asp3107Glu(p.D3107E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151650336:151650336(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7271G>T
AA Mutation p.Trp2424Leu(p.W2424L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151687714:151687714(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2435G>T
AA Mutation p.Trp812Leu(p.W812L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151694385:151694385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1834C>T
AA Mutation p.Leu612Phe(p.L612F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151555035:151555035(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746394316
CDS Mutation c.14221C>T
AA Mutation p.Arg4741Trp(p.R4741W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151692154:151692154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2011G>A
AA Mutation p.Asp671Asn(p.D671N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151567301:151567301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12920C>T
AA Mutation p.Ser4307Leu(p.S4307L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151619714:151619714(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9880G>C
AA Mutation p.Ala3294Pro(p.A3294P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666182:151666182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566604130
CDS Mutation c.4939G>A
AA Mutation p.Ala1647Thr(p.A1647T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151658048:151658048(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6118T>C
AA Mutation p.Tyr2040His(p.Y2040H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151576294:151576294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11662C>T
AA Mutation p.Pro3888Ser(p.P3888S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151537163:151537163(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370211010
CDS Mutation c.16073T>A
AA Mutation p.Leu5358Gln(p.L5358Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151527503:151527503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16715A>C
AA Mutation p.Lys5572Thr(p.K5572T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151684877:151684877(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2736C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151733145:151733145(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs117178114
CDS Mutation c.12C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151672417:151672417(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550832252
CDS Mutation c.4251C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151640634:151640634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377170982
CDS Mutation c.8406C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151519748:151519748(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772294501
CDS Mutation c.17397C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151614516:151614516(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200043736
CDS Mutation c.10632G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151553416:151553416(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14610T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151655281:151655281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6796C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151665387:151665387(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756600687
CDS Mutation c.5184C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 120
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151627526:151627526(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199870629
CDS Mutation c.9411C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 121
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151662282:151662282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5823C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 122
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151672387:151672387(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4281C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 123
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151551792:151551792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14787T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 124
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151627676:151627676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9261C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 125
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151526948:151526948(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373945534
CDS Mutation c.16812C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 126
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151671137:151671137(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771527086
CDS Mutation c.4392C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 127
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151644061:151644061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7713C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 128
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151688376:151688376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2331T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 129
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151541465:151541465(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15561G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 130
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151560622:151560622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201005449
CDS Mutation c.14181C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 131
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151650667:151650667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752098313
CDS Mutation c.7134C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 132
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151514863:151514863(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750627350
CDS Mutation c.17868G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 133
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151612282:151612282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs570142622
CDS Mutation c.10980G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 134
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151697564:151697564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1237C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 135
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151625537:151625537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9720T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 136
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151547694:151547694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15099T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 137
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151614495:151614495(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757438945
CDS Mutation c.10653T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 138
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151575776:151575776(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11829C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 139
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151694371:151694371(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs530242068
CDS Mutation c.1848C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 140
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151610576:151610576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11229T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 141
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151724872:151724872(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371015050
CDS Mutation c.492G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 142
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151534236:151534236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759637718
CDS Mutation c.16293C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 143
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151627080:151627080(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368719373
CDS Mutation c.9540G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 144
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151620936:151620936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9814C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 145
Mutation Consequence frameshift_variant
Transcription ID ENST00000172853
Start 151568357:151568357(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12592delC
AA Mutation p.Leu4198CysfsTer51(p.L4198Cfs*51)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 146
Mutation Consequence frameshift_variant
Transcription ID ENST00000172853
Start 151618297:151618297(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10325delA
AA Mutation p.Asn3442ThrfsTer4(p.N3442Tfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 147
Mutation Consequence frameshift_variant
Transcription ID ENST00000172853
Start 151684830:151684830(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs751346602
CDS Mutation c.2783delC
AA Mutation p.Pro928LeufsTer29(p.P928Lfs*29)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 148
Mutation Consequence frameshift_variant
Transcription ID ENST00000172853
Start 151695630:151695630(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1622delC
AA Mutation p.Pro541LeufsTer16(p.P541Lfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 149
Mutation Consequence frameshift_variant
Transcription ID ENST00000172853
Start 151691930:151691930(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2145delA
AA Mutation p.Lys715AsnfsTer8(p.K715Nfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 150
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151545962:151545962(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15400C>T
AA Mutation p.Arg5134Ter(p.R5134*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151617381:151617381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10435C>T
AA Mutation p.Arg3479Ter(p.R3479*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151525981:151525981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17035G>T
AA Mutation p.Glu5679Ter(p.E5679*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151568069:151568069(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12741+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 154
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000172853
Start 151696736:151696736(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1471-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 155
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151552671:151552671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14733+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 156
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151656151:151656151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6495+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 157
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151568616:151568616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12531+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 158
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151562609:151562609(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13788+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 159
Mutation Consequence inframe_insertion
Transcription ID ENST00000172853
Start 151545957:151545958(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.15404_15405insTTTGATTGACTT
AA Mutation p.Asp5135_Lys5136insLeuIleAspPhe(p.D5135_K5136insLIDF)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> NEB

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151506910:151506910(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200454939
CDS Mutation c.18452C>T
AA Mutation p.Ser6151Leu(p.S6151L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151526947:151526947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16813G>A
AA Mutation p.Ala5605Thr(p.A5605T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151531019:151531019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769388036
CDS Mutation c.16502G>A
AA Mutation p.Arg5501His(p.R5501H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151540434:151540434(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15699T>G
AA Mutation p.Ile5233Met(p.I5233M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151565604:151565604(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13160T>C
AA Mutation p.Ile4387Thr(p.I4387T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666287:151666287(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200545007
CDS Mutation c.4834C>T
AA Mutation p.Arg1612Cys(p.R1612C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151675322:151675322(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3844C>A
AA Mutation p.Leu1282Ile(p.L1282I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151724951:151724951(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747423578
CDS Mutation c.413G>A
AA Mutation p.Arg138Gln(p.R138Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151650280:151650280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7327A>C
AA Mutation p.Ser2443Arg(p.S2443R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151663717:151663717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5594C>T
AA Mutation p.Ser1865Phe(p.S1865F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151561275:151561275(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13931A>G
AA Mutation p.Asn4644Ser(p.N4644S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151650264:151650264(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373589529
CDS Mutation c.7343G>A
AA Mutation p.Arg2448His(p.R2448H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151618399:151618399(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10223A>G
AA Mutation p.Lys3408Arg(p.K3408R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151643949:151643949(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7825G>C
AA Mutation p.Val2609Leu(p.V2609L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151534235:151534235(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16294G>A
AA Mutation p.Ala5432Thr(p.A5432T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666317:151666317(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4804T>C
AA Mutation p.Tyr1602His(p.Y1602H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151666394:151666394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4727A>G
AA Mutation p.Tyr1576Cys(p.Y1576C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151569341:151569341(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773239926
CDS Mutation c.12359G>A
AA Mutation p.Arg4120His(p.R4120H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151627761:151627761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9176A>G
AA Mutation p.Lys3059Arg(p.K3059R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151494183:151494183(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759962661
CDS Mutation c.18989G>A
AA Mutation p.Arg6330His(p.R6330H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151519011:151519011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17546C>A
AA Mutation p.Ser5849Tyr(p.S5849Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151519747:151519747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774715573
CDS Mutation c.17398G>A
AA Mutation p.Asp5800Asn(p.D5800N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151524405:151524405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17282G>T
AA Mutation p.Arg5761Ile(p.R5761I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151525259:151525259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17073G>T
AA Mutation p.Lys5691Asn(p.K5691N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151534229:151534229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771186380
CDS Mutation c.16300G>A
AA Mutation p.Asp5434Asn(p.D5434N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151562636:151562636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575958060
CDS Mutation c.13763G>A
AA Mutation p.Arg4588Gln(p.R4588Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151616099:151616099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10463A>C
AA Mutation p.Lys3488Thr(p.K3488T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151644552:151644552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7560G>T
AA Mutation p.Glu2520Asp(p.E2520D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000172853
Start 151646233:151646233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7433G>A
AA Mutation p.Arg2478Lys(p.R2478K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151662246:151662246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5859G>T
AA Mutation p.Glu1953Asp(p.E1953D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151687695:151687695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2454G>T
AA Mutation p.Lys818Asn(p.K818N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151709695:151709695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.996G>T
AA Mutation p.Glu332Asp(p.E332D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151503417:151503417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18664A>G
AA Mutation p.Thr6222Ala(p.T6222A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151549652:151549652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14930G>A
AA Mutation p.Arg4977His(p.R4977H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151525229:151525229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17103C>G
AA Mutation p.Asn5701Lys(p.N5701K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151485794:151485794(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19976G>T
AA Mutation p.Gly6659Val(p.G6659V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151610044:151610044(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11366T>G
AA Mutation p.Ile3789Ser(p.I3789S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151614358:151614358(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10790A>C
AA Mutation p.Lys3597Thr(p.K3597T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151617380:151617380(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757027644
CDS Mutation c.10436G>A
AA Mutation p.Arg3479Gln(p.R3479Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151642842:151642842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8188G>T
AA Mutation p.Asp2730Tyr(p.D2730Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151664554:151664554(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5398C>T
AA Mutation p.Pro1800Ser(p.P1800S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151672397:151672397(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372694084
CDS Mutation c.4271C>T
AA Mutation p.Thr1424Met(p.T1424M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151690783:151690783(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2254G>A
AA Mutation p.Val752Ile(p.V752I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151725544:151725544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.311A>C
AA Mutation p.Lys104Thr(p.K104T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000172853
Start 151727742:151727742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.243C>A
AA Mutation p.Phe81Leu(p.F81L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151697574:151697574(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371658494
CDS Mutation c.1227C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000172853
Start 151568645:151568645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761813976
CDS Mutation c.12504G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151710517:151710517(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.844G>T
AA Mutation p.Glu282Ter(p.E282*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151537224:151537224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16012G>T
AA Mutation p.Glu5338Ter(p.E5338*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151493367:151493367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19183G>T
AA Mutation p.Glu6395Ter(p.E6395*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000172853
Start 151567452:151567452(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12769C>T
AA Mutation p.Gln4257Ter(p.Q4257*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence splice_donor_variant
Transcription ID ENST00000172853
Start 151706880:151706880(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124167
CDS Mutation c.1152+1G>A
Mutation Classification Splice_Site
Feature Type Transcript