Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> USH2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216089072:216089072(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4826A>C
AA Mutation p.Glu1609Ala(p.E1609A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216247007:216247007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2387A>G
AA Mutation p.Asp796Gly(p.D796G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216418551:216418551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.614G>A
AA Mutation p.Arg205Lys(p.R205K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215639225:215639225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14982G>T
AA Mutation p.Gln4994His(p.Q4994H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675352:215675352(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760177550
CDS Mutation c.12559C>T
AA Mutation p.Arg4187Cys(p.R4187C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215671018:215671018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14087C>A
AA Mutation p.Ser4696Tyr(p.S4696Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215798946:215798946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9919T>C
AA Mutation p.Cys3307Arg(p.C3307R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216196600:216196600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4204C>A
AA Mutation p.Leu1402Ile(p.L1402I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216198321:216198321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4075G>A
AA Mutation p.Glu1359Lys(p.E1359K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216250969:216250969(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2101A>G
AA Mutation p.Thr701Ala(p.T701A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216365018:216365018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.719G>T
AA Mutation p.Arg240Ile(p.R240I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216421901:216421901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.436G>T
AA Mutation p.Ala146Ser(p.A146S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216246933:216246933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2461G>A
AA Mutation p.Val821Ile(p.V821I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215998949:215998949(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773803465
CDS Mutation c.6595C>A
AA Mutation p.Leu2199Ile(p.L2199I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675228:215675228(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12683C>G
AA Mutation p.Thr4228Arg(p.T4228R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215965422:215965422(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7015A>C
AA Mutation p.Thr2339Pro(p.T2339P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675480:215675480(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs574981142
CDS Mutation c.12431C>T
AA Mutation p.Ala4144Val(p.A4144V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216327600:216327600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.839T>G
AA Mutation p.Leu280Arg(p.L280R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216070202:216070202(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5948T>A
AA Mutation p.Val1983Glu(p.V1983E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215648568:215648568(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757728612
CDS Mutation c.14542C>T
AA Mutation p.Arg4848Trp(p.R4848W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215650749:215650749(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14186G>T
AA Mutation p.Arg4729Ile(p.R4729I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675337:215675337(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750396156
CDS Mutation c.12574C>T
AA Mutation p.Arg4192Cys(p.R4192C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215680202:215680202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144783615
CDS Mutation c.12241C>T
AA Mutation p.Arg4081Trp(p.R4081W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216246960:216246960(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2434A>G
AA Mutation p.Thr812Ala(p.T812A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216422065:216422065(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.272G>A
AA Mutation p.Arg91Lys(p.R91K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215900205:215900205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7464T>A
AA Mutation p.Asn2488Lys(p.N2488K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216198482:216198482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3914C>A
AA Mutation p.Pro1305His(p.P1305H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216323691:216323691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1333A>G
AA Mutation p.Thr445Ala(p.T445A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215779968:215779968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10814C>A
AA Mutation p.Ala3605Asp(p.A3605D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215877765:215877765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8674C>A
AA Mutation p.Leu2892Ile(p.L2892I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215965330:215965330(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7107C>A
AA Mutation p.Phe2369Leu(p.F2369L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216196701:216196701(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4103C>A
AA Mutation p.Pro1368His(p.P1368H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216292244:216292244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1771G>T
AA Mutation p.Asp591Tyr(p.D591Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216365062:216365062(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.675C>A
AA Mutation p.Phe225Leu(p.F225L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215628855:215628855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15478A>G
AA Mutation p.Asn5160Asp(p.N5160D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216070157:216070157(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143624066
CDS Mutation c.5993G>A
AA Mutation p.Arg1998His(p.R1998H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216324214:216324214(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1282G>A
AA Mutation p.Gly428Arg(p.G428R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215640566:215640566(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111033498
CDS Mutation c.14960C>T
AA Mutation p.Ala4987Val(p.A4987V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216078257:216078257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5404A>C
AA Mutation p.Lys1802Gln(p.K1802Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216196712:216196712(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4092C>A
AA Mutation p.Phe1364Leu(p.F1364L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000307340
Start 215970774:215970774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6808G>T
AA Mutation p.Val2270Phe(p.V2270F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199734:216199734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3704C>A
AA Mutation p.Thr1235Lys(p.T1235K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216422041:216422041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.296C>T
AA Mutation p.Ala99Val(p.A99V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199716:216199716(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3722C>T
AA Mutation p.Ala1241Val(p.A1241V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216247046:216247046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2348A>C
AA Mutation p.Asn783Thr(p.N783T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199704:216199704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3734G>C
AA Mutation p.Arg1245Thr(p.R1245T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215634613:215634613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748393788
CDS Mutation c.15143C>T
AA Mutation p.Ala5048Val(p.A5048V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215728077:215728077(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758420991
CDS Mutation c.12019G>A
AA Mutation p.Asp4007Asn(p.D4007N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215798958:215798958(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9907G>A
AA Mutation p.Asp3303Asn(p.D3303N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215728035:215728035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12061G>T
AA Mutation p.Val4021Leu(p.V4021L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215766703:215766703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11025G>T
AA Mutation p.Gln3675His(p.Q3675H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216198359:216198359(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4037G>C
AA Mutation p.Gly1346Ala(p.G1346A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675480:215675480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12431C>G
AA Mutation p.Ala4144Gly(p.A4144G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216072960:216072960(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5786A>G
AA Mutation p.Tyr1929Cys(p.Y1929C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215782885:215782885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10438A>T
AA Mutation p.Asn3480Tyr(p.N3480Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215671282:215671282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776471973
CDS Mutation c.13823G>A
AA Mutation p.Arg4608Gln(p.R4608Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000307340
Start 216089013:216089013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4885G>T
AA Mutation p.Gly1629Cys(p.G1629C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216325519:216325519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs3820464
CDS Mutation c.929G>A
AA Mutation p.Arg310Gln(p.R310Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215790211:215790211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10030T>C
AA Mutation p.Ser3344Pro(p.S3344P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216078118:216078118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5543A>C
AA Mutation p.Asn1848Thr(p.N1848T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216175417:216175417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4462T>G
AA Mutation p.Phe1488Val(p.F1488V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215759730:215759730(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11161G>A
AA Mutation p.Gly3721Arg(p.G3721R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215759735:215759735(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs527236139
CDS Mutation c.11156G>A
AA Mutation p.Arg3719His(p.R3719H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215640725:215640725(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14801A>G
AA Mutation p.Tyr4934Cys(p.Y4934C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215879002:215879002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111033533
CDS Mutation c.8320G>A
AA Mutation p.Ala2774Thr(p.A2774T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216365036:216365036(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.701A>G
AA Mutation p.His234Arg(p.H234R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215786798:215786798(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10259T>G
AA Mutation p.Phe3420Cys(p.F3420C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215867111:215867111(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760779633
CDS Mutation c.8741G>A
AA Mutation p.Arg2914Gln(p.R2914Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216292330:216292330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756426298
CDS Mutation c.1685G>A
AA Mutation p.Arg562His(p.R562H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675213:215675213(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12698G>T
AA Mutation p.Trp4233Leu(p.W4233L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216000446:216000446(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6442T>G
AA Mutation p.Ser2148Ala(p.S2148A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199679:216199679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3759A>C
AA Mutation p.Lys1253Asn(p.K1253N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216232124:216232124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2822C>A
AA Mutation p.Ser941Tyr(p.S941Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216422196:216422196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.141G>T
AA Mutation p.Lys47Asn(p.K47N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215741529:215741529(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11557G>A
AA Mutation p.Gly3853Arg(p.G3853R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216084761:216084761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201799575
CDS Mutation c.5104G>A
AA Mutation p.Val1702Met(p.V1702M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215680286:215680286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12157T>G
AA Mutation p.Leu4053Val(p.L4053V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216418551:216418551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.614G>T
AA Mutation p.Arg205Ile(p.R205I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215728088:215728088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12008A>T
AA Mutation p.Gln4003Leu(p.Q4003L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216364995:216364995(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.742G>T
AA Mutation p.Asp248Tyr(p.D248Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215728224:215728224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11872A>C
AA Mutation p.Thr3958Pro(p.T3958P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215741435:215741435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11651A>C
AA Mutation p.Glu3884Ala(p.E3884A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216246968:216246968(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2426A>T
AA Mutation p.Asn809Ile(p.N809I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215671031:215671031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45549044
CDS Mutation c.14074G>A
AA Mutation p.Gly4692Arg(p.G4692R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216289345:216289345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1906G>C
AA Mutation p.Asp636His(p.D636H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216321945:216321945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551424240
CDS Mutation c.1582G>A
AA Mutation p.Asp528Asn(p.D528N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216323678:216323678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766715882
CDS Mutation c.1346G>A
AA Mutation p.Arg449His(p.R449H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215813765:215813765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201909450
CDS Mutation c.9710G>T
AA Mutation p.Cys3237Phe(p.C3237F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215674270:215674270(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13641G>T
AA Mutation p.Glu4547Asp(p.E4547D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215728381:215728381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11715C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 91
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216323587:216323587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1437C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 92
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215878952:215878952(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8370T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 93
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215993024:215993024(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375235470
CDS Mutation c.6801G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 94
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215671197:215671197(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13908C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 95
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215628829:215628829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15504C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 96
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215648728:215648728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14382C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 97
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215845918:215845918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8961A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 98
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215965470:215965470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6967C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 99
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216325485:216325485(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.963T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 100
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675290:215675290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369544099
CDS Mutation c.12621C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 101
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216364978:216364978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.759T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 102
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215728075:215728075(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12021C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215798998:215798998(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145814426
CDS Mutation c.9867C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215671251:215671251(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13854A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215743259:215743259(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144655434
CDS Mutation c.11466C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675209:215675209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12702G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215628901:215628901(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145362017
CDS Mutation c.15432C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215650745:215650745(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199694401
CDS Mutation c.14190C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675125:215675125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12786T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216251090:216251090(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1980A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216196616:216196616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4188G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216421980:216421980(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562750831
CDS Mutation c.357C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215845888:215845888(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8991C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215728282:215728282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766042296
CDS Mutation c.11814C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215759749:215759749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11142A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215786716:215786716(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372015149
CDS Mutation c.10341C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215782123:215782123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10659T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215782856:215782856(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10467T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215634666:215634666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15090G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 120
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215867143:215867143(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397518040
CDS Mutation c.8709C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 121
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216084771:216084771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5094A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 122
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216190266:216190266(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4353T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 123
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675104:215675104(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12807T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 124
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216048637:216048637(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6060A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 125
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 215758727:215758727(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.11257delA
AA Mutation p.Thr3753LeufsTer31(p.T3753Lfs*31)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 126
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 215845989:215845989(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8890delT
AA Mutation p.Trp2964GlyfsTer10(p.W2964Gfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 127
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 216089044:216089044(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4854delT
AA Mutation p.Phe1618LeufsTer17(p.F1618Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 128
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216325386:216325386(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1062G>A
AA Mutation p.Trp354Ter(p.W354*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216086749:216086749(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754768875
CDS Mutation c.4957C>T
AA Mutation p.Arg1653Ter(p.R1653*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216198534:216198534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3862G>T
AA Mutation p.Glu1288Ter(p.E1288*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 215640723:215640723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146733615
CDS Mutation c.14803C>T
AA Mutation p.Arg4935Ter(p.R4935*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216207337:216207337(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3252G>A
AA Mutation p.Trp1084Ter(p.W1084*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 215888861:215888861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7788T>A
AA Mutation p.Tyr2596Ter(p.Y2596*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000307340
Start 216196696:216196697(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4107_4108insTATTGAT
AA Mutation p.Val1370TyrfsTer2(p.V1370Yfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 216199998:216199999(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3439dupG
AA Mutation p.Val1147GlyfsTer56(p.V1147Gfs*56)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 136
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 215634469:215634470(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.15286dupG
AA Mutation p.Glu5096GlyfsTer82(p.E5096Gfs*82)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 137
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 216292364:216292365(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1645-11_1650dupTTTTGTTCTAGTGTGAT
AA Mutation p.Arg551PhefsTer46(p.R551Ffs*46)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 138
Mutation Consequence splice_donor_variant;coding_sequence_variant
Transcription ID ENST00000307340
Start 215628812:215628826(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.15507_15519+2delCAACAGTGGACTGGT
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 139
Mutation Consequence splice_donor_variant
Transcription ID ENST00000307340
Start 216250901:216250901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2167+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> USH2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199843:216199843(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776039406
CDS Mutation c.3595G>A
AA Mutation p.Glu1199Lys(p.E1199K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215813798:215813798(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9677G>A
AA Mutation p.Arg3226Gln(p.R3226Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216421987:216421987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.350A>T
AA Mutation p.His117Leu(p.H117L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215877780:215877780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8659T>C
AA Mutation p.Tyr2887His(p.Y2887H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215625809:215625809(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505155
CDS Mutation c.15581G>A
AA Mutation p.Arg5194His(p.R5194H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216078208:216078208(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5453G>T
AA Mutation p.Gly1818Val(p.G1818V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215888746:215888746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7903G>A
AA Mutation p.Asp2635Asn(p.D2635N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216046457:216046457(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6299G>A
AA Mutation p.Gly2100Asp(p.G2100D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215934718:215934718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370204550
CDS Mutation c.7198G>A
AA Mutation p.Asp2400Asn(p.D2400N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215639206:215639206(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750887508
CDS Mutation c.15001G>A
AA Mutation p.Glu5001Lys(p.E5001K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215813775:215813775(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9700C>A
AA Mutation p.His3234Asn(p.H3234N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216078232:216078232(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5429C>A
AA Mutation p.Ser1810Tyr(p.S1810Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216292301:216292301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760365249
CDS Mutation c.1714T>C
AA Mutation p.Cys572Arg(p.C572R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216421966:216421966(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.371C>A
AA Mutation p.Ser124Tyr(p.S124Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216422231:216422231(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.106C>A
AA Mutation p.Leu36Ile(p.L36I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199638:216199638(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768141777
CDS Mutation c.3800C>T
AA Mutation p.Ala1267Val(p.A1267V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215674537:215674537(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13374A>T
AA Mutation p.Glu4458Asp(p.E4458D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675147:215675147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12764T>C
AA Mutation p.Val4255Ala(p.V4255A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215817172:215817172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9395C>A
AA Mutation p.Ser3132Tyr(p.S3132Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215900800:215900800(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763559650
CDS Mutation c.7406A>G
AA Mutation p.Tyr2469Cys(p.Y2469C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215993054:215993054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6771T>G
AA Mutation p.Phe2257Leu(p.F2257L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 216199975:216199975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766609270
CDS Mutation c.3463A>C
AA Mutation p.Ser1155Arg(p.S1155R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215674815:215674815(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765764429
CDS Mutation c.13096G>A
AA Mutation p.Ala4366Thr(p.A4366T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000307340
Start 215675487:215675487(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759071552
CDS Mutation c.12424C>T
AA Mutation p.His4142Tyr(p.H4142Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215671125:215671125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201127899
CDS Mutation c.13980G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215671200:215671200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13905A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215799049:215799049(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745566865
CDS Mutation c.9816G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675191:215675191(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12720C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215675517:215675517(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12394C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215779928:215779928(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10854C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215648656:215648656(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137902779
CDS Mutation c.14454G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215741443:215741443(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11643T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 215786776:215786776(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10281G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216073296:216073296(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764839361
CDS Mutation c.5577C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000307340
Start 216078189:216078189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775206984
CDS Mutation c.5472G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216175363:216175363(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4516G>T
AA Mutation p.Glu1506Ter(p.E1506*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence stop_gained
Transcription ID ENST00000307340
Start 216199887:216199887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3551T>A
AA Mutation p.Leu1184Ter(p.L1184*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000307340
Start 215680331:215680332(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12111_12112insG
AA Mutation p.Thr4038AspfsTer61(p.T4038Dfs*61)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 39
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000307340
Start 216072970:216072970(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5777-1G>T
Mutation Classification Splice_Site
Feature Type Transcript