Primary Site >> Stomach Cancer
Gene >> FBN1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48505100:48505100(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs140503215 |
| CDS Mutation | c.1885G>A |
| AA Mutation | p.Val629Ile(p.V629I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48644619:48644619(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.151G>A |
| AA Mutation | p.Asp51Asn(p.D51N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48489916:48489916(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3017A>G |
| AA Mutation | p.Glu1006Gly(p.E1006G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48520776:48520776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752010116 |
| CDS Mutation | c.1030C>T |
| AA Mutation | p.Arg344Cys(p.R344C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48644757:48644757(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759323371 |
| CDS Mutation | c.13C>T |
| AA Mutation | p.Arg5Cys(p.R5C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48505109:48505109(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1876G>C |
| AA Mutation | p.Gly626Arg(p.G626R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48412607:48412607(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8188C>T |
| AA Mutation | p.Arg2730Trp(p.R2730W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48510082:48510082(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs141551765 |
| CDS Mutation | c.1676C>T |
| AA Mutation | p.Ala559Val(p.A559V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48644766:48644766(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4C>T |
| AA Mutation | p.Arg2Cys(p.R2C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48515457:48515457(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1398T>G |
| AA Mutation | p.Ile466Met(p.I466M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48515458:48515458(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1397T>A |
| AA Mutation | p.Ile466Asn(p.I466N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48526223:48526223(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.895T>C |
| AA Mutation | p.Cys299Arg(p.C299R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48411112:48411112(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8494A>C |
| AA Mutation | p.Ser2832Arg(p.S2832R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48428427:48428427(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6916C>T |
| AA Mutation | p.Arg2306Cys(p.R2306C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48444624:48444624(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765599101 |
| CDS Mutation | c.5954C>T |
| AA Mutation | p.Ala1985Val(p.A1985V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48425426:48425426(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7396T>C |
| AA Mutation | p.Tyr2466His(p.Y2466H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48503853:48503853(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2047T>C |
| AA Mutation | p.Cys683Arg(p.C683R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48503834:48503834(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2066A>C |
| AA Mutation | p.Glu689Ala(p.E689A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48437839:48437839(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6242A>G |
| AA Mutation | p.Gln2081Arg(p.Q2081R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537652:48537652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs773685409 |
| CDS Mutation | c.695G>A |
| AA Mutation | p.Arg232His(p.R232H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48496135:48496135(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2384G>A |
| AA Mutation | p.Gly795Glu(p.G795E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48505036:48505036(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1949G>A |
| AA Mutation | p.Arg650His(p.R650H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48448877:48448877(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5562A>C |
| AA Mutation | p.Gln1854His(p.Q1854H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48489953:48489953(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780301913 |
| CDS Mutation | c.2980G>A |
| AA Mutation | p.Glu994Lys(p.E994K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48487360:48487360(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3415G>A |
| AA Mutation | p.Glu1139Lys(p.E1139K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48497347:48497347(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2212A>T |
| AA Mutation | p.Ile738Phe(p.I738F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48488445:48488445(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730880100 |
| CDS Mutation | c.3131G>A |
| AA Mutation | p.Cys1044Tyr(p.C1044Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48470646:48470646(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs794728223 |
| CDS Mutation | c.4447G>A |
| AA Mutation | p.Gly1483Arg(p.G1483R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48516191:48516191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1319A>G |
| AA Mutation | p.Glu440Gly(p.E440G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48515465:48515465(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1390C>T |
| AA Mutation | p.Arg464Cys(p.R464C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48420779:48420779(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs369888822 |
| CDS Mutation | c.7727G>A |
| AA Mutation | p.Arg2576His(p.R2576H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48446734:48446734(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5760C>A |
| AA Mutation | p.Phe1920Leu(p.F1920L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48411168:48411168(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8438G>A |
| AA Mutation | p.Ser2813Asn(p.S2813N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48468097:48468097(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs111401431 |
| CDS Mutation | c.4588C>T |
| AA Mutation | p.Arg1530Cys(p.R1530C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48492542:48492542(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2773C>A |
| AA Mutation | p.Leu925Met(p.L925M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48505117:48505117(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1868G>A |
| AA Mutation | p.Cys623Tyr(p.C623Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48456650:48456650(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5409G>T |
| AA Mutation | p.Leu1803Phe(p.L1803F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48481742:48481742(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761277748 |
| CDS Mutation | c.3877A>C |
| AA Mutation | p.Ser1293Arg(p.S1293R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48534106:48534106(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.836T>G |
| AA Mutation | p.Leu279Arg(p.L279R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48516335:48516335(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1175C>T |
| AA Mutation | p.Pro392Leu(p.P392L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48505106:48505106(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs727503057 |
| CDS Mutation | c.1879C>T |
| AA Mutation | p.Arg627Cys(p.R627C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48411201:48411201(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8405G>A |
| AA Mutation | p.Gly2802Asp(p.G2802D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48498999:48498999(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs777526851 |
| CDS Mutation | c.2153C>T |
| AA Mutation | p.Thr718Met(p.T718M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48644742:48644742(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.28G>A |
| AA Mutation | p.Ala10Thr(p.A10T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000316623 |
| Start | 48495170:48495170(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2630C>G |
| AA Mutation | p.Ser877Cys(p.S877C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48445407:48445407(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5886T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48452656:48452656(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5451G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48432900:48432900(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6705A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48488417:48488417(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3159C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48474301:48474301(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4164C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48430684:48430684(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6858A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48460259:48460259(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs373887214 |
| CDS Mutation | c.5283C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48490014:48490014(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2919C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48490047:48490047(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs772108557 |
| CDS Mutation | c.2886C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48483894:48483894(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3762C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537762:48537762(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.585C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48596311:48596311(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs111671429 |
| CDS Mutation | c.510C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48448889:48448889(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5550T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48463143:48463143(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5163T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48437778:48437778(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6303G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48537747:48537747(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs25389 |
| CDS Mutation | c.600C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48474280:48474280(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4185C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000316623 |
| Start | 48415631:48415631(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7956T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | stop_gained;splice_region_variant |
| Transcription ID | ENST00000316623 |
| Start | 48495469:48495469(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2539G>T |
| AA Mutation | p.Glu847Ter(p.E847*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000316623 |
| Start | 48411280:48411280(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs137854466 |
| CDS Mutation | c.8326C>T |
| AA Mutation | p.Arg2776Ter(p.R2776*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |