Primary Site >> Liver Cancer

Gene >> TTN

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546360:178546360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781088841
CDS Mutation c.90048T>A
AA Mutation p.Asp30016Glu(p.D30016E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777437:178777437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4628T>A
AA Mutation p.Val1543Glu(p.V1543E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598558:178598558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52136T>A
AA Mutation p.Val17379Glu(p.V17379E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605423:178605423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48949G>A
AA Mutation p.Asp16317Asn(p.D16317N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582455:178582455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.61078C>A
AA Mutation p.Pro20360Thr(p.P20360T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178730093:178730093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17356G>A
AA Mutation p.Glu5786Lys(p.E5786K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178717808:178717808(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201810836
CDS Mutation c.24115C>T
AA Mutation p.Arg8039Cys(p.R8039C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587243:178587243(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.59045C>T
AA Mutation p.Thr19682Ile(p.T19682I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598903:178598903(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745914315
CDS Mutation c.51884G>A
AA Mutation p.Arg17295Gln(p.R17295Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725949:178725949(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19422G>C
AA Mutation p.Glu6474Asp(p.E6474D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178630241:178630241(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs192766485
CDS Mutation c.39358C>T
AA Mutation p.Pro13120Ser(p.P13120S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704947:178704947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28673G>T
AA Mutation p.Arg9558Met(p.R9558M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562410:178562410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78799G>A
AA Mutation p.Glu26267Lys(p.E26267K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592143:178592143(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.54838A>G
AA Mutation p.Ser18280Gly(p.S18280G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569535:178569535(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71674C>A
AA Mutation p.Pro23892Thr(p.P23892T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542797:178542797(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92134G>A
AA Mutation p.Val30712Ile(p.V30712I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633035:178633035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38173A>G
AA Mutation p.Ile12725Val(p.I12725V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611182:178611182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46024G>C
AA Mutation p.Val15342Leu(p.V15342L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566454:178566454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74755A>G
AA Mutation p.Lys24919Glu(p.K24919E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614307:178614307(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44167A>G
AA Mutation p.Thr14723Ala(p.T14723A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178624693:178624693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39664A>G
AA Mutation p.Thr13222Ala(p.T13222A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775505:178775505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141142920
CDS Mutation c.6359G>T
AA Mutation p.Arg2120Leu(p.R2120L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178630256:178630256(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39343C>A
AA Mutation p.His13115Asn(p.H13115N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575219:178575219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65990T>G
AA Mutation p.Ile21997Ser(p.I21997S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178601265:178601265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50809T>A
AA Mutation p.Tyr16937Asn(p.Y16937N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730706:178730706(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16876G>A
AA Mutation p.Ala5626Thr(p.A5626T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178769823:178769823(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8758G>A
AA Mutation p.Glu2920Lys(p.E2920K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536332:178536332(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95492T>A
AA Mutation p.Leu31831Gln(p.L31831Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618216:178618216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42319A>T
AA Mutation p.Asn14107Tyr(p.N14107Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725951:178725951(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19420G>A
AA Mutation p.Glu6474Lys(p.E6474K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729530:178729530(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17675A>T
AA Mutation p.Glu5892Val(p.E5892V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731524:178731524(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16291G>T
AA Mutation p.Ala5431Ser(p.A5431S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779454:178779454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3738T>A
AA Mutation p.His1246Gln(p.H1246Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178694838:178694838(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30388G>C
AA Mutation p.Val10130Leu(p.V10130L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723472:178723472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20677G>A
AA Mutation p.Val6893Met(p.V6893M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773655:178773655(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7401G>T
AA Mutation p.Lys2467Asn(p.K2467N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178624554:178624554(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39803T>A
AA Mutation p.Leu13268His(p.L13268H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782835:178782835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3071T>C
AA Mutation p.Val1024Ala(p.V1024A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178800556:178800556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750730828
CDS Mutation c.422G>A
AA Mutation p.Gly141Glu(p.G141E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560190:178560190(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81019C>A
AA Mutation p.Pro27007Thr(p.P27007T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607816:178607816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.48048A>T
AA Mutation p.Glu16016Asp(p.E16016D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784153:178784153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2692G>A
AA Mutation p.Val898Met(p.V898M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635228:178635228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37038A>C
AA Mutation p.Glu12346Asp(p.E12346D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774311:178774311(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761566436
CDS Mutation c.6953G>A
AA Mutation p.Arg2318His(p.R2318H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576947:178576947(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64465C>A
AA Mutation p.Pro21489Thr(p.P21489T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620853:178620853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40834T>C
AA Mutation p.Tyr13612His(p.Y13612H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530275:178530275(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101417C>G
AA Mutation p.Pro33806Arg(p.P33806R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567854:178567854(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73355G>A
AA Mutation p.Gly24452Glu(p.G24452E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178689353:178689353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30997A>C
AA Mutation p.Lys10333Gln(p.K10333Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773981:178773981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7187A>T
AA Mutation p.Gln2396Leu(p.Q2396L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572499:178572499(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.68710C>A
AA Mutation p.Leu22904Ile(p.L22904I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777269:178777269(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4694T>C
AA Mutation p.Val1565Ala(p.V1565A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568829:178568829(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72380T>G
AA Mutation p.Leu24127Arg(p.L24127R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593670:178593670(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53707C>A
AA Mutation p.Leu17903Ile(p.L17903I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712883:178712883(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26191T>A
AA Mutation p.Phe8731Ile(p.F8731I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539904:178539904(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs533651182
CDS Mutation c.93238G>A
AA Mutation p.Val31080Ile(p.V31080I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709670:178709670(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27698T>A
AA Mutation p.Val9233Glu(p.V9233E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608061:178608061(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47803C>T
AA Mutation p.Pro15935Ser(p.P15935S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559425:178559425(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81784T>G
AA Mutation p.Ser27262Ala(p.S27262A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565577:178565577(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202149931
CDS Mutation c.75632G>A
AA Mutation p.Arg25211His(p.R25211H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178679381:178679381(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32749C>A
AA Mutation p.Pro10917Thr(p.P10917T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722390:178722390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21446A>C
AA Mutation p.Gln7149Pro(p.Q7149P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591063:178591063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55739T>G
AA Mutation p.Val18580Gly(p.V18580G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552749:178552749(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.85228T>A
AA Mutation p.Trp28410Arg(p.W28410R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574988:178574988(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.66221T>A
AA Mutation p.Val22074Asp(p.V22074D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612471:178612471(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.45131A>G
AA Mutation p.Asn15044Ser(p.N15044S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583728:178583728(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60531G>T
AA Mutation p.Glu20177Asp(p.E20177D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571367:178571367(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69842G>C
AA Mutation p.Arg23281Thr(p.R23281T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771465:178771465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753441258
CDS Mutation c.7862C>A
AA Mutation p.Ala2621Asp(p.A2621D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547575:178547575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89128T>C
AA Mutation p.Ser29710Pro(p.S29710P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731750:178731750(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16174T>C
AA Mutation p.Cys5392Arg(p.C5392R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636170:178636170(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36478A>T
AA Mutation p.Ser12160Cys(p.S12160C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 73
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178610091:178610091(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46512G>T
AA Mutation p.Lys15504Asn(p.K15504N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559676:178559676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81533A>G
AA Mutation p.Asp27178Gly(p.D27178G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563306:178563306(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.77903T>A
AA Mutation p.Val25968Asp(p.V25968D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571418:178571418(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69791C>T
AA Mutation p.Pro23264Leu(p.P23264L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740953:178740953(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11329T>A
AA Mutation p.Tyr3777Asn(p.Y3777N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554976:178554976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83560C>T
AA Mutation p.Leu27854Phe(p.L27854F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178696108:178696108(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30013G>A
AA Mutation p.Asp10005Asn(p.D10005N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576018:178576018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65191C>G
AA Mutation p.Pro21731Ala(p.P21731A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551081:178551081(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86527A>T
AA Mutation p.Thr28843Ser(p.T28843S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178679410:178679410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32720A>T
AA Mutation p.Glu10907Val(p.E10907V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607532:178607532(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.48233T>A
AA Mutation p.Val16078Glu(p.V16078E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636501:178636501(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36303G>T
AA Mutation p.Lys12101Asn(p.K12101N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178637403:178637403(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35970G>T
AA Mutation p.Lys11990Asn(p.K11990N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569597:178569597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71612T>A
AA Mutation p.Leu23871His(p.L23871H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568830:178568830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs541266544
CDS Mutation c.72379C>A
AA Mutation p.Leu24127Ile(p.L24127I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584470:178584470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60158A>T
AA Mutation p.Tyr20053Phe(p.Y20053F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719313:178719313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23126T>C
AA Mutation p.Val7709Ala(p.V7709A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723556:178723556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504736
CDS Mutation c.20593C>T
AA Mutation p.Arg6865Trp(p.R6865W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178645948:178645948(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35457T>A
AA Mutation p.Asp11819Glu(p.D11819E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709628:178709628(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27740A>G
AA Mutation p.Tyr9247Cys(p.Y9247C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571035:178571035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.70174G>C
AA Mutation p.Asp23392His(p.D23392H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178619645:178619645(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41749G>T
AA Mutation p.Ala13917Ser(p.A13917S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773157:178773157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7807A>C
AA Mutation p.Thr2603Pro(p.T2603P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535135:178535135(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376403708
CDS Mutation c.96557G>A
AA Mutation p.Arg32186His(p.R32186H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178619796:178619796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41598G>T
AA Mutation p.Lys13866Asn(p.K13866N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561422:178561422(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.79787T>C
AA Mutation p.Ile26596Thr(p.I26596T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735691:178735691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13804G>A
AA Mutation p.Val4602Ile(p.V4602I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178582446:178582446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.61087G>A
AA Mutation p.Ala20363Thr(p.A20363T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568622:178568622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752618930
CDS Mutation c.72587C>T
AA Mutation p.Pro24196Leu(p.P24196L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588561:178588561(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.58241C>A
AA Mutation p.Pro19414Gln(p.P19414Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 103
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178552825:178552825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.85152G>A
Mutation Classification Silent
Feature Type Transcript
ID 104
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178543184:178543184(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91866T>A
Mutation Classification Silent
Feature Type Transcript
ID 105
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178562356:178562356(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78853T>C
Mutation Classification Silent
Feature Type Transcript
ID 106
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178695869:178695869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30252T>C
Mutation Classification Silent
Feature Type Transcript
ID 107
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178609820:178609820(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46680G>T
Mutation Classification Silent
Feature Type Transcript
ID 108
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178696238:178696238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29883T>C
Mutation Classification Silent
Feature Type Transcript
ID 109
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178546222:178546222(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90186C>T
Mutation Classification Silent
Feature Type Transcript
ID 110
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178542478:178542478(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.92355G>A
Mutation Classification Silent
Feature Type Transcript
ID 111
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533712:178533712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97980T>A
Mutation Classification Silent
Feature Type Transcript
ID 112
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178612413:178612413(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45189T>A
Mutation Classification Silent
Feature Type Transcript
ID 113
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178718539:178718539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23616T>C
Mutation Classification Silent
Feature Type Transcript
ID 114
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178794501:178794501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1296C>G
Mutation Classification Silent
Feature Type Transcript
ID 115
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178560263:178560263(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.80946T>C
Mutation Classification Silent
Feature Type Transcript
ID 116
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178573871:178573871(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67338G>A
Mutation Classification Silent
Feature Type Transcript
ID 117
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178706549:178706549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377442695
CDS Mutation c.28374C>T
Mutation Classification Silent
Feature Type Transcript
ID 118
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178767834:178767834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9396A>G
Mutation Classification Silent
Feature Type Transcript
ID 119
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178571132:178571132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70077T>C
Mutation Classification Silent
Feature Type Transcript
ID 120
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632151:178632151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38820G>A
Mutation Classification Silent
Feature Type Transcript
ID 121
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178531810:178531810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.99882T>C
Mutation Classification Silent
Feature Type Transcript
ID 122
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178614563:178614563(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.44028T>A
Mutation Classification Silent
Feature Type Transcript
ID 123
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178695893:178695893(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30228A>T
Mutation Classification Silent
Feature Type Transcript
ID 124
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731796:178731796(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372588069
CDS Mutation c.16128C>T
Mutation Classification Silent
Feature Type Transcript
ID 125
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178614671:178614671(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs547682223
CDS Mutation c.43920C>T
Mutation Classification Silent
Feature Type Transcript
ID 126
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178728711:178728711(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18264A>G
Mutation Classification Silent
Feature Type Transcript
ID 127
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178599245:178599245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773730675
CDS Mutation c.51625C>T
Mutation Classification Silent
Feature Type Transcript
ID 128
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178800563:178800563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.415C>A
Mutation Classification Silent
Feature Type Transcript
ID 129
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178567076:178567076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74133A>G
Mutation Classification Silent
Feature Type Transcript
ID 130
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178710762:178710762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27384T>A
Mutation Classification Silent
Feature Type Transcript
ID 131
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178548530:178548530(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88173T>C
Mutation Classification Silent
Feature Type Transcript
ID 132
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178594597:178594597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.52974T>C
Mutation Classification Silent
Feature Type Transcript
ID 133
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178729412:178729412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775965000
CDS Mutation c.17793C>T
Mutation Classification Silent
Feature Type Transcript
ID 134
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178774988:178774988(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6723T>A
Mutation Classification Silent
Feature Type Transcript
ID 135
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178573361:178573361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67848T>C
Mutation Classification Silent
Feature Type Transcript
ID 136
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178534796:178534815(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.96877_96896delAATATTGGACACTTTGACAT
AA Mutation p.Asn32293Ter(p.N32293*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 137
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178739834:178739834(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12448delG
AA Mutation p.Ala4150LeufsTer3(p.A4150Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 138
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178725563:178725563(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.19690delC
AA Mutation p.Gln6564SerfsTer14(p.Q6564Sfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 139
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178571860:178571860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69349C>T
AA Mutation p.Gln23117Ter(p.Q23117*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 140
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178557730:178557730(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82701C>A
AA Mutation p.Tyr27567Ter(p.Y27567*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 141
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178714423:178714423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25400G>A
AA Mutation p.Trp8467Ter(p.W8467*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 142
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178702558:178702558(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29378G>A
AA Mutation p.Trp9793Ter(p.W9793*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 143
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178573523:178573523(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.67686T>A
AA Mutation p.Tyr22562Ter(p.Y22562*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 144
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178583907:178583907(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60353-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 145
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178632325:178632327(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.38644_38646delGAT
AA Mutation p.Asp12882del(p.D12882del)
Mutation Classification In_Frame_Del
Feature Type Transcript