Primary Site >> Stomach Cancer

Gene >> MUC16

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945525:8945525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31245A>C
AA Mutation p.Gln10415His(p.Q10415H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977123:8977123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4016C>A
AA Mutation p.Ser1339Tyr(p.S1339Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900692:8900692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38865A>C
AA Mutation p.Lys12955Asn(p.K12955N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976659:8976659(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776377933
CDS Mutation c.4480A>G
AA Mutation p.Thr1494Ala(p.T1494A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974990:8974990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6149C>A
AA Mutation p.Ser2050Tyr(p.S2050Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973032:8973032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8107A>C
AA Mutation p.Ser2703Arg(p.S2703R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947966:8947966(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28804A>G
AA Mutation p.Thr9602Ala(p.T9602A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972572:8972572(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8567A>G
AA Mutation p.Glu2856Gly(p.E2856G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974408:8974408(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6731C>T
AA Mutation p.Ala2244Val(p.A2244V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979713:8979713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1426T>C
AA Mutation p.Ser476Pro(p.S476P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949405:8949405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27365T>G
AA Mutation p.Leu9122Arg(p.L9122R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951154:8951154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25616T>G
AA Mutation p.Leu8539Arg(p.L8539R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965690:8965690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11080A>C
AA Mutation p.Ser3694Arg(p.S3694R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976211:8976211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4928T>C
AA Mutation p.Val1643Ala(p.V1643A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935573:8935573(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35382A>C
AA Mutation p.Gln11794His(p.Q11794H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948314:8948314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28456A>C
AA Mutation p.Thr9486Pro(p.T9486P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936016:8936016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34939C>G
AA Mutation p.Pro11647Ala(p.P11647A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956698:8956698(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20072C>A
AA Mutation p.Thr6691Lys(p.T6691K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938275:8938275(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32680C>A
AA Mutation p.Pro10894Thr(p.P10894T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946604:8946604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30166C>T
AA Mutation p.Pro10056Ser(p.P10056S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961051:8961051(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15719A>C
AA Mutation p.Lys5240Thr(p.K5240T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8915567:8915567(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs75003158
CDS Mutation c.36743G>A
AA Mutation p.Arg12248His(p.R12248H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955549:8955549(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21221T>A
AA Mutation p.Leu7074His(p.L7074H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956722:8956722(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20048C>T
AA Mutation p.Thr6683Ile(p.T6683I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958304:8958304(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs192934215
CDS Mutation c.18466G>A
AA Mutation p.Ala6156Thr(p.A6156T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8888746:8888746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40753A>G
AA Mutation p.Thr13585Ala(p.T13585A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973515:8973515(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7624T>G
AA Mutation p.Phe2542Val(p.F2542V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957419:8957419(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762791427
CDS Mutation c.19351C>A
AA Mutation p.Pro6451Thr(p.P6451T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936797:8936797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34158A>C
AA Mutation p.Glu11386Asp(p.E11386D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950431:8950431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26339C>A
AA Mutation p.Thr8780Lys(p.T8780K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946755:8946755(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30015A>C
AA Mutation p.Glu10005Asp(p.E10005D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951839:8951839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24931A>G
AA Mutation p.Met8311Val(p.M8311V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977012:8977012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4127T>C
AA Mutation p.Leu1376Pro(p.L1376P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900312:8900312(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs796613110
CDS Mutation c.38930C>T
AA Mutation p.Ser12977Phe(p.S12977F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949095:8949095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27675G>T
AA Mutation p.Met9225Ile(p.M9225I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938478:8938478(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759594403
CDS Mutation c.32477C>T
AA Mutation p.Thr10826Met(p.T10826M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973214:8973214(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7925C>T
AA Mutation p.Thr2642Ile(p.T2642I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936381:8936381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34574C>A
AA Mutation p.Pro11525His(p.P11525H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966936:8966936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9834G>T
AA Mutation p.Leu3278Phe(p.L3278F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963041:8963041(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372775227
CDS Mutation c.13729G>A
AA Mutation p.Ala4577Thr(p.A4577T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956003:8956003(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20767A>G
AA Mutation p.Met6923Val(p.M6923V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959077:8959077(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17693C>A
AA Mutation p.Pro5898Gln(p.P5898Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8939291:8939291(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31664G>T
AA Mutation p.Arg10555Met(p.R10555M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972971:8972971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8168A>G
AA Mutation p.His2723Arg(p.H2723R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935834:8935834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35121T>G
AA Mutation p.Ser11707Arg(p.S11707R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959243:8959243(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17527A>C
AA Mutation p.Thr5843Pro(p.T5843P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900661:8900661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38896A>T
AA Mutation p.Ser12966Cys(p.S12966C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935748:8935748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35207C>T
AA Mutation p.Ser11736Leu(p.S11736L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8882816:8882816(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41597C>A
AA Mutation p.Pro13866His(p.P13866H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959086:8959086(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17684A>G
AA Mutation p.Gln5895Arg(p.Q5895R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8939213:8939213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368049820
CDS Mutation c.31742C>T
AA Mutation p.Pro10581Leu(p.P10581L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972855:8972855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8284A>C
AA Mutation p.Ser2762Arg(p.S2762R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946480:8946480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30290A>G
AA Mutation p.His10097Arg(p.H10097R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957247:8957247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs183160657
CDS Mutation c.19523C>A
AA Mutation p.Thr6508Asn(p.T6508N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975369:8975369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5770A>G
AA Mutation p.Thr1924Ala(p.T1924A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959023:8959023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17747A>G
AA Mutation p.Gln5916Arg(p.Q5916R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973348:8973348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7791G>T
AA Mutation p.Leu2597Phe(p.L2597F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8903514:8903514(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38458A>C
AA Mutation p.Thr12820Pro(p.T12820P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914210:8914210(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36976A>G
AA Mutation p.Thr12326Ala(p.T12326A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935108:8935108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35847G>T
AA Mutation p.Glu11949Asp(p.E11949D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935473:8935473(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35482A>G
AA Mutation p.Thr11828Ala(p.T11828A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945664:8945664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31106G>A
AA Mutation p.Ser10369Asn(p.S10369N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946028:8946028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30742G>A
AA Mutation p.Glu10248Lys(p.E10248K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947617:8947617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29153C>A
AA Mutation p.Pro9718His(p.P9718H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952314:8952314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24456A>C
AA Mutation p.Glu8152Asp(p.E8152D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958202:8958202(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18568G>T
AA Mutation p.Asp6190Tyr(p.D6190Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959656:8959656(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200898366
CDS Mutation c.17114C>T
AA Mutation p.Ala5705Val(p.A5705V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973694:8973694(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778682392
CDS Mutation c.7445A>G
AA Mutation p.Asp2482Gly(p.D2482G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975540:8975540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5599A>G
AA Mutation p.Thr1867Ala(p.T1867A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978547:8978547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2592A>C
AA Mutation p.Glu864Asp(p.E864D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952103:8952103(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24667C>T
AA Mutation p.Pro8223Ser(p.P8223S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935326:8935326(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35629T>G
AA Mutation p.Leu11877Val(p.L11877V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954796:8954796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21974C>T
AA Mutation p.Thr7325Ile(p.T7325I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977139:8977139(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4000A>C
AA Mutation p.Ser1334Arg(p.S1334R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973268:8973268(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144088703
CDS Mutation c.7871C>T
AA Mutation p.Thr2624Met(p.T2624M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952466:8952466(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24304A>C
AA Mutation p.Thr8102Pro(p.T8102P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8892954:8892954(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40010A>C
AA Mutation p.Glu13337Ala(p.E13337A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8903528:8903528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38444G>T
AA Mutation p.Gly12815Val(p.G12815V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8909320:8909320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37499T>A
AA Mutation p.Leu12500His(p.L12500H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914155:8914155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37031T>A
AA Mutation p.Val12344Asp(p.V12344D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8957521:8957521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19249C>T
AA Mutation p.Pro6417Ser(p.P6417S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961325:8961325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15445A>G
AA Mutation p.Lys5149Glu(p.K5149E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966010:8966010(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10760C>T
AA Mutation p.Ala3587Val(p.A3587V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980829:8980829(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.310T>C
AA Mutation p.Ser104Pro(p.S104P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980924:8980924(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.215T>C
AA Mutation p.Val72Ala(p.V72A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8899990:8899990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38995T>C
AA Mutation p.Ser12999Pro(p.S12999P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958669:8958669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18101A>G
AA Mutation p.Gln6034Arg(p.Q6034R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952741:8952741(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750483248
CDS Mutation c.24029C>A
AA Mutation p.Ala8010Glu(p.A8010E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973694:8973694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7445A>C
AA Mutation p.Asp2482Ala(p.D2482A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936299:8936299(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34656T>G
AA Mutation p.Ser11552Arg(p.S11552R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960542:8960542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16228G>A
AA Mutation p.Ala5410Thr(p.A5410T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938587:8938587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32368T>A
AA Mutation p.Ser10790Thr(p.S10790T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900318:8900318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542795474
CDS Mutation c.38924G>A
AA Mutation p.Arg12975Gln(p.R12975Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962377:8962377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14393C>T
AA Mutation p.Thr4798Ile(p.T4798I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966284:8966284(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10486G>C
AA Mutation p.Glu3496Gln(p.E3496Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959849:8959849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16921T>C
AA Mutation p.Ser5641Pro(p.S5641P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964489:8964489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12281C>T
AA Mutation p.Ala4094Val(p.A4094V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937719:8937719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33236C>T
AA Mutation p.Ala11079Val(p.A11079V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961148:8961148(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15622A>C
AA Mutation p.Ser5208Arg(p.S5208R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951313:8951313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25457T>G
AA Mutation p.Ile8486Ser(p.I8486S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974843:8974843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6296C>G
AA Mutation p.Ser2099Cys(p.S2099C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976667:8976667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764814054
CDS Mutation c.4472C>T
AA Mutation p.Pro1491Leu(p.P1491L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8900013:8900013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38972T>G
AA Mutation p.Leu12991Arg(p.L12991R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8908607:8908607(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37604G>A
AA Mutation p.Ser12535Asn(p.S12535N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946250:8946250(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30520A>G
AA Mutation p.Met10174Val(p.M10174V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952202:8952202(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24568A>G
AA Mutation p.Ser8190Gly(p.S8190G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8897517:8897517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367877760
CDS Mutation c.39359G>A
AA Mutation p.Arg13120Gln(p.R13120Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8905036:8905036(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537357304
CDS Mutation c.38111A>C
AA Mutation p.Asn12704Thr(p.N12704T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8888860:8888860(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40639G>T
AA Mutation p.Val13547Leu(p.V13547L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979497:8979497(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778369508
CDS Mutation c.1642C>A
AA Mutation p.Pro548Thr(p.P548T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946163:8946163(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30607T>G
AA Mutation p.Phe10203Val(p.F10203V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956617:8956617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20153T>C
AA Mutation p.Ile6718Thr(p.I6718T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975821:8975821(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5318T>G
AA Mutation p.Val1773Gly(p.V1773G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 114
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8899972:8899972(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756739393
CDS Mutation c.39013A>G
AA Mutation p.Thr13005Ala(p.T13005A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979160:8979160(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1979C>A
AA Mutation p.Ala660Asp(p.A660D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977598:8977598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3541A>T
AA Mutation p.Ile1181Leu(p.I1181L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949043:8949043(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27727G>T
AA Mutation p.Ala9243Ser(p.A9243S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952946:8952946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23824T>G
AA Mutation p.Ser7942Ala(p.S7942A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8897644:8897644(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39232G>C
AA Mutation p.Gly13078Arg(p.G13078R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977799:8977799(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3340A>C
AA Mutation p.Thr1114Pro(p.T1114P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8953593:8953593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23177C>T
AA Mutation p.Ala7726Val(p.A7726V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979325:8979325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1814T>C
AA Mutation p.Val605Ala(p.V605A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975715:8975715(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5424A>C
AA Mutation p.Lys1808Asn(p.K1808N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8849018:8849018(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755907893
CDS Mutation c.43438C>T
AA Mutation p.Arg14480Trp(p.R14480W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8888883:8888883(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40616A>C
AA Mutation p.Lys13539Thr(p.K13539T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974013:8974013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7126A>G
AA Mutation p.Thr2376Ala(p.T2376A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975200:8975200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5939T>G
AA Mutation p.Ile1980Ser(p.I1980S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962058:8962058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14712G>T
AA Mutation p.Gln4904His(p.Q4904H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958661:8958661(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771448044
CDS Mutation c.18109G>A
AA Mutation p.Gly6037Arg(p.G6037R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966112:8966112(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374367222
CDS Mutation c.10658C>T
AA Mutation p.Thr3553Ile(p.T3553I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976017:8976017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5122A>C
AA Mutation p.Thr1708Pro(p.T1708P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951112:8951112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25658C>A
AA Mutation p.Pro8553His(p.P8553H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 133
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8889471:8889471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40610G>T
AA Mutation p.Arg13537Met(p.R13537M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979077:8979077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2062T>C
AA Mutation p.Ser688Pro(p.S688P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955244:8955244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21526C>T
AA Mutation p.His7176Tyr(p.H7176Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980118:8980118(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs573130776
CDS Mutation c.1021G>A
AA Mutation p.Glu341Lys(p.E341K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961075:8961075(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15695A>C
AA Mutation p.Lys5232Thr(p.K5232T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949874:8949874(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26896A>G
AA Mutation p.Thr8966Ala(p.T8966A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962971:8962971(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13799C>T
AA Mutation p.Thr4600Ile(p.T4600I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955599:8955599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21171G>T
AA Mutation p.Lys7057Asn(p.K7057N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8976079:8976079(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5060G>T
AA Mutation p.Ser1687Ile(p.S1687I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952426:8952426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777856268
CDS Mutation c.24344C>A
AA Mutation p.Pro8115Gln(p.P8115Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936905:8936905(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34050G>T
AA Mutation p.Trp11350Cys(p.W11350C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936938:8936938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34017G>T
AA Mutation p.Glu11339Asp(p.E11339D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960967:8960967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781661825
CDS Mutation c.15803C>T
AA Mutation p.Thr5268Met(p.T5268M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978986:8978986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2153C>A
AA Mutation p.Thr718Asn(p.T718N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8888372:8888372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376852947
CDS Mutation c.40796G>A
AA Mutation p.Arg13599Gln(p.R13599Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938553:8938553(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370847991
CDS Mutation c.32402C>T
AA Mutation p.Ala10801Val(p.A10801V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964415:8964415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12355A>T
AA Mutation p.Thr4119Ser(p.T4119S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961148:8961148(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15622A>G
AA Mutation p.Ser5208Gly(p.S5208G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8907862:8907862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37636T>G
AA Mutation p.Phe12546Val(p.F12546V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8882820:8882820(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367857280
CDS Mutation c.41593C>T
AA Mutation p.Arg13865Cys(p.R13865C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8889788:8889788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375872439
CDS Mutation c.40520C>T
AA Mutation p.Thr13507Met(p.T13507M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8905015:8905015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38132A>C
AA Mutation p.Lys12711Thr(p.K12711T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8885301:8885301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776614671
CDS Mutation c.41264G>A
AA Mutation p.Arg13755Gln(p.R13755Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8904693:8904693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38219A>T
AA Mutation p.Lys12740Met(p.K12740M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975835:8975835(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5304T>G
AA Mutation p.Phe1768Leu(p.F1768L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945734:8945734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31036C>A
AA Mutation p.Pro10346Thr(p.P10346T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8914266:8914266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36920A>G
AA Mutation p.Asp12307Gly(p.D12307G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958268:8958268(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18502G>T
AA Mutation p.Gly6168Cys(p.G6168C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966232:8966232(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10538C>T
AA Mutation p.Ala3513Val(p.A3513V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964466:8964466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746135164
CDS Mutation c.12304G>A
AA Mutation p.Ala4102Thr(p.A4102T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8938071:8938071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32884A>G
AA Mutation p.Thr10962Ala(p.T10962A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946225:8946225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30545C>T
AA Mutation p.Thr10182Ile(p.T10182I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956183:8956183(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20587A>G
AA Mutation p.Thr6863Ala(p.T6863A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964599:8964599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12171A>G
AA Mutation p.Ile4057Met(p.I4057M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8945575:8945575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31195A>G
AA Mutation p.Thr10399Ala(p.T10399A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952586:8952586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24184G>A
AA Mutation p.Gly8062Arg(p.G8062R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946901:8946901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29869A>G
AA Mutation p.Thr9957Ala(p.T9957A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956816:8956816(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745767010
CDS Mutation c.19954A>C
AA Mutation p.Thr6652Pro(p.T6652P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8977139:8977139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4000A>G
AA Mutation p.Ser1334Gly(p.S1334G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 172
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954840:8954840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21930T>G
AA Mutation p.Ile7310Met(p.I7310M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8960923:8960923(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15847A>G
AA Mutation p.Thr5283Ala(p.T5283A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975339:8975339(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5800T>G
AA Mutation p.Leu1934Val(p.L1934V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961519:8961519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371902178
CDS Mutation c.15251G>A
AA Mutation p.Arg5084His(p.R5084H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 176
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8898922:8898922(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39128T>C
AA Mutation p.Leu13043Pro(p.L13043P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962624:8962624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116257308
CDS Mutation c.14146G>T
AA Mutation p.Ala4716Ser(p.A4716S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 178
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8935398:8935398(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35557C>T
AA Mutation p.His11853Tyr(p.H11853Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8866149:8866149(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42241T>G
AA Mutation p.Phe14081Val(p.F14081V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8937708:8937708(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33247T>C
AA Mutation p.Ser11083Pro(p.S11083P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8948035:8948035(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28735T>A
AA Mutation p.Ser9579Thr(p.S9579T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8950609:8950609(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26161T>G
AA Mutation p.Ser8721Ala(p.S8721A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974469:8974469(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373571868
CDS Mutation c.6670G>A
AA Mutation p.Ala2224Thr(p.A2224T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8972278:8972278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8861A>T
AA Mutation p.Gln2954Leu(p.Q2954L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959240:8959240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370965308
CDS Mutation c.17530A>G
AA Mutation p.Ile5844Val(p.I5844V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949181:8949181(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27589A>T
AA Mutation p.Thr9197Ser(p.T9197S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962603:8962603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14167G>T
AA Mutation p.Ala4723Ser(p.A4723S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963631:8963631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762271571
CDS Mutation c.13139C>A
AA Mutation p.Thr4380Lys(p.T4380K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 189
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956689:8956689(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766976047
CDS Mutation c.20081C>T
AA Mutation p.Ala6694Val(p.A6694V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 190
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964208:8964208(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12562C>A
AA Mutation p.Pro4188Thr(p.P4188T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 191
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8858647:8858647(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374686688
CDS Mutation c.43021C>T
AA Mutation p.Pro14341Ser(p.P14341S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 192
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936588:8936588(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34367C>T
AA Mutation p.Ala11456Val(p.A11456V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 193
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956743:8956743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20027C>T
AA Mutation p.Ala6676Val(p.A6676V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 194
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959480:8959480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17290A>C
AA Mutation p.Thr5764Pro(p.T5764P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 195
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959659:8959659(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760803479
CDS Mutation c.17111C>A
AA Mutation p.Thr5704Asn(p.T5704N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 196
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8961262:8961262(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15508C>T
AA Mutation p.Pro5170Ser(p.P5170S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 197
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979869:8979869(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1270A>G
AA Mutation p.Thr424Ala(p.T424A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 198
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8972628:8972628(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8511G>T
Mutation Classification Silent
Feature Type Transcript
ID 199
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976678:8976678(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4461T>C
Mutation Classification Silent
Feature Type Transcript
ID 200
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8976834:8976834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4305T>G
Mutation Classification Silent
Feature Type Transcript
ID 201
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958305:8958305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769529269
CDS Mutation c.18465C>T
Mutation Classification Silent
Feature Type Transcript
ID 202
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958068:8958068(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18702T>C
Mutation Classification Silent
Feature Type Transcript
ID 203
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961035:8961035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15735T>A
Mutation Classification Silent
Feature Type Transcript
ID 204
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938552:8938552(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746940715
CDS Mutation c.32403G>A
Mutation Classification Silent
Feature Type Transcript
ID 205
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8973204:8973204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7935G>A
Mutation Classification Silent
Feature Type Transcript
ID 206
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962724:8962724(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14046G>A
Mutation Classification Silent
Feature Type Transcript
ID 207
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953067:8953067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23703A>G
Mutation Classification Silent
Feature Type Transcript
ID 208
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8965976:8965976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10794T>C
Mutation Classification Silent
Feature Type Transcript
ID 209
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8957074:8957074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19696T>C
Mutation Classification Silent
Feature Type Transcript
ID 210
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949830:8949830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26940T>C
Mutation Classification Silent
Feature Type Transcript
ID 211
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964713:8964713(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778816991
CDS Mutation c.12057C>T
Mutation Classification Silent
Feature Type Transcript
ID 212
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8965991:8965991(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10779T>C
Mutation Classification Silent
Feature Type Transcript
ID 213
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8972256:8972256(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8883C>A
Mutation Classification Silent
Feature Type Transcript
ID 214
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966972:8966972(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9798C>A
Mutation Classification Silent
Feature Type Transcript
ID 215
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947139:8947139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29631T>C
Mutation Classification Silent
Feature Type Transcript
ID 216
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975307:8975307(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5832A>G
Mutation Classification Silent
Feature Type Transcript
ID 217
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8861115:8861115(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42801G>A
Mutation Classification Silent
Feature Type Transcript
ID 218
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8900314:8900314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38928C>T
Mutation Classification Silent
Feature Type Transcript
ID 219
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8939023:8939023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31932C>A
Mutation Classification Silent
Feature Type Transcript
ID 220
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956763:8956763(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768444026
CDS Mutation c.20007C>T
Mutation Classification Silent
Feature Type Transcript
ID 221
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958059:8958059(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18711T>G
Mutation Classification Silent
Feature Type Transcript
ID 222
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8949764:8949764(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748093062
CDS Mutation c.27006C>A
Mutation Classification Silent
Feature Type Transcript
ID 223
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980929:8980929(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751083676
CDS Mutation c.210G>A
Mutation Classification Silent
Feature Type Transcript
ID 224
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8862920:8862920(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42720C>T
Mutation Classification Silent
Feature Type Transcript
ID 225
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8897504:8897504(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs540336252
CDS Mutation c.39372C>T
Mutation Classification Silent
Feature Type Transcript
ID 226
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8935840:8935840(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35115C>T
Mutation Classification Silent
Feature Type Transcript
ID 227
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8936755:8936755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34200A>T
Mutation Classification Silent
Feature Type Transcript
ID 228
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8978241:8978241(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2898T>A
Mutation Classification Silent
Feature Type Transcript
ID 229
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961041:8961041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15729G>A
Mutation Classification Silent
Feature Type Transcript
ID 230
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8951216:8951216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755801605
CDS Mutation c.25554C>A
Mutation Classification Silent
Feature Type Transcript
ID 231
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8950661:8950661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26109T>G
Mutation Classification Silent
Feature Type Transcript
ID 232
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8951042:8951042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25728C>T
Mutation Classification Silent
Feature Type Transcript
ID 233
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8955326:8955326(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21444A>G
Mutation Classification Silent
Feature Type Transcript
ID 234
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8910151:8910151(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764503526
CDS Mutation c.37275T>C
Mutation Classification Silent
Feature Type Transcript
ID 235
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980119:8980119(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778792098
CDS Mutation c.1020C>T
Mutation Classification Silent
Feature Type Transcript
ID 236
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953310:8953310(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23460G>A
Mutation Classification Silent
Feature Type Transcript
ID 237
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8955587:8955587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21183T>C
Mutation Classification Silent
Feature Type Transcript
ID 238
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962523:8962523(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14247A>G
Mutation Classification Silent
Feature Type Transcript
ID 239
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959568:8959568(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17202T>G
Mutation Classification Silent
Feature Type Transcript
ID 240
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8974563:8974563(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6576T>G
Mutation Classification Silent
Feature Type Transcript
ID 241
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8907488:8907488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773379512
CDS Mutation c.37774C>T
Mutation Classification Silent
Feature Type Transcript
ID 242
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979168:8979168(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1971G>A
Mutation Classification Silent
Feature Type Transcript
ID 243
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959358:8959358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17412A>G
Mutation Classification Silent
Feature Type Transcript
ID 244
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964197:8964197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12573A>C
Mutation Classification Silent
Feature Type Transcript
ID 245
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937832:8937832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33123G>A
Mutation Classification Silent
Feature Type Transcript
ID 246
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8978169:8978169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2970T>G
Mutation Classification Silent
Feature Type Transcript
ID 247
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8974497:8974497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6642T>C
Mutation Classification Silent
Feature Type Transcript
ID 248
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962196:8962196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14574A>G
Mutation Classification Silent
Feature Type Transcript
ID 249
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953076:8953076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23694A>T
Mutation Classification Silent
Feature Type Transcript
ID 250
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962298:8962298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751538389
CDS Mutation c.14472G>A
Mutation Classification Silent
Feature Type Transcript
ID 251
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960243:8960243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16527T>C
Mutation Classification Silent
Feature Type Transcript
ID 252
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979425:8979425(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1714C>T
Mutation Classification Silent
Feature Type Transcript
ID 253
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966225:8966225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10545T>C
Mutation Classification Silent
Feature Type Transcript
ID 254
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8972202:8972202(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8937T>G
Mutation Classification Silent
Feature Type Transcript
ID 255
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975076:8975076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6063T>C
Mutation Classification Silent
Feature Type Transcript
ID 256
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964629:8964629(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12141T>C
Mutation Classification Silent
Feature Type Transcript
ID 257
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8973909:8973909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7230A>G
Mutation Classification Silent
Feature Type Transcript
ID 258
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959655:8959655(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186109841
CDS Mutation c.17115G>A
Mutation Classification Silent
Feature Type Transcript
ID 259
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8955452:8955452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21318C>A
Mutation Classification Silent
Feature Type Transcript
ID 260
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961632:8961632(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764982394
CDS Mutation c.15138A>G
Mutation Classification Silent
Feature Type Transcript
ID 261
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979666:8979666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1473G>A
Mutation Classification Silent
Feature Type Transcript
ID 262
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8958800:8958800(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17970A>G
Mutation Classification Silent
Feature Type Transcript
ID 263
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8966876:8966876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9894T>C
Mutation Classification Silent
Feature Type Transcript
ID 264
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8905014:8905014(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38133G>A
Mutation Classification Silent
Feature Type Transcript
ID 265
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8977707:8977707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3432C>T
Mutation Classification Silent
Feature Type Transcript
ID 266
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937199:8937199(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33756T>G
Mutation Classification Silent
Feature Type Transcript
ID 267
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938372:8938372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32583C>T
Mutation Classification Silent
Feature Type Transcript
ID 268
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8980431:8980431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.708C>T
Mutation Classification Silent
Feature Type Transcript
ID 269
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8947853:8947853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28917C>T
Mutation Classification Silent
Feature Type Transcript
ID 270
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8961515:8961515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15255A>C
Mutation Classification Silent
Feature Type Transcript
ID 271
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8945714:8945714(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31056T>A
Mutation Classification Silent
Feature Type Transcript
ID 272
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952329:8952329(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24441T>G
Mutation Classification Silent
Feature Type Transcript
ID 273
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8964962:8964962(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11808G>A
Mutation Classification Silent
Feature Type Transcript
ID 274
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8938427:8938427(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.32528delT
AA Mutation p.Phe10843SerfsTer11(p.F10843Sfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 275
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8981111:8981111(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.28delT
AA Mutation p.Ser10HisfsTer8(p.S10Hfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 276
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8949495:8949495(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.27275delG
AA Mutation p.Gly9092ValfsTer28(p.G9092Vfs*28)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 277
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8953634:8953634(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.23136delC
AA Mutation p.Ser7713LeufsTer5(p.S7713Lfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 278
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8951899:8951899(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.24871delT
AA Mutation p.Ser8291ProfsTer6(p.S8291Pfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 279
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8960787:8960787(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs752658892
CDS Mutation c.15983delC
AA Mutation p.Pro5328LeufsTer11(p.P5328Lfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 280
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8965344:8965344(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.11426delA
AA Mutation p.Lys3809ArgfsTer30(p.K3809Rfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 281
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8939102:8939102(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.31853delT
AA Mutation p.Phe10618SerfsTer5(p.F10618Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 282
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8972332:8972332(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8807delA
AA Mutation p.Asn2936ThrfsTer6(p.N2936Tfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 283
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8936061:8936064(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.34891_34894delGTGA
AA Mutation p.Val11631ProfsTer18(p.V11631Pfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 284
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8949464:8949464(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.27306delT
AA Mutation p.Phe9102LeufsTer18(p.F9102Lfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 285
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8948481:8948481(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs774904775
CDS Mutation c.28289delA
AA Mutation p.Asn9430ThrfsTer13(p.N9430Tfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 286
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8955112:8955112(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.21658delG
AA Mutation p.Asp7220IlefsTer25(p.D7220Ifs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 287
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8959198:8959198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17572G>T
AA Mutation p.Glu5858Ter(p.E5858*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 288
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8954098:8954098(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22672G>T
AA Mutation p.Glu7558Ter(p.E7558*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 289
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8978427:8978427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2712G>A
AA Mutation p.Trp904Ter(p.W904*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 290
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8883483:8883483(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41526C>A
AA Mutation p.Cys13842Ter(p.C13842*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 291
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8955739:8955739(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21031A>T
AA Mutation p.Arg7011Ter(p.R7011*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 292
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8936224:8936224(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34731G>A
AA Mutation p.Trp11577Ter(p.W11577*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 293
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8953807:8953808(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.22962dupT
AA Mutation p.Gln7655SerfsTer23(p.Q7655Sfs*23)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 294
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8953633:8953634(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.23136dupC
AA Mutation p.Ser7713LeufsTer40(p.S7713Lfs*40)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 295
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8858616:8858617(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.43051dupA
AA Mutation p.Arg14351LysfsTer4(p.R14351Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 296
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8967147:8967148(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9622dupA
AA Mutation p.Ile3208AsnfsTer84(p.I3208Nfs*84)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 297
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8948480:8948481(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.28289dupA
AA Mutation p.Asn9430LysfsTer27(p.N9430Kfs*27)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 298
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8938426:8938427(version: GRCh38)
Mutation Type INS
dbSNP_RS rs745530053
CDS Mutation c.32528dupT
AA Mutation p.His10844ProfsTer2(p.H10844Pfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 299
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8960630:8960631(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.16139dupT
AA Mutation p.Leu5380PhefsTer22(p.L5380Ffs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 300
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8949512:8949513(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.27257dupC
AA Mutation p.Gly9087TrpfsTer39(p.G9087Wfs*39)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 301
Mutation Consequence splice_donor_variant
Transcription ID ENST00000397910
Start 8907456:8907456(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37805+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 302
Mutation Consequence inframe_deletion
Transcription ID ENST00000397910
Start 8960191:8960223(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.16547_16579delTTACTCAGGCCTCCAGAACAGAAATCTCCTCTA
AA Mutation p.Ile5516_Ser5526del(p.I5516_S5526del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 303
Mutation Consequence inframe_deletion
Transcription ID ENST00000397910
Start 8980974:8981036(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.103_165delACAGGAGCCACCTTGTCACCTAAGACATCTACAGGTGCAATCGTGGTGACAGAACATACTCTG
AA Mutation p.Thr35_Leu55del(p.T35_L55del)
Mutation Classification In_Frame_Del
Feature Type Transcript