Primary Site >> Stomach Cancer
Gene >> RYR1
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38528364:38528364(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10883G>T |
| AA Mutation | p.Arg3628Leu(p.R3628L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458265:38458265(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs555272546 |
| CDS Mutation | c.2140G>A |
| AA Mutation | p.Gly714Ser(p.G714S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38519243:38519243(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10048C>T |
| AA Mutation | p.Arg3350Trp(p.R3350W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38548260:38548260(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12122G>A |
| AA Mutation | p.Arg4041Gln(p.R4041Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38455471:38455471(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs193922768 |
| CDS Mutation | c.1597C>T |
| AA Mutation | p.Arg533Cys(p.R533C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38486045:38486045(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5390G>T |
| AA Mutation | p.Arg1797Leu(p.R1797L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38440847:38440847(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.148C>T |
| AA Mutation | p.Pro50Ser(p.P50S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38496503:38496503(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6758A>G |
| AA Mutation | p.His2253Arg(p.H2253R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38466318:38466318(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3098G>A |
| AA Mutation | p.Ser1033Asn(p.S1033N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38527669:38527669(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760433572 |
| CDS Mutation | c.10709G>A |
| AA Mutation | p.Arg3570His(p.R3570H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38486108:38486108(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5453C>T |
| AA Mutation | p.Ala1818Val(p.A1818V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38519379:38519379(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs543161252 |
| CDS Mutation | c.10184G>A |
| AA Mutation | p.Arg3395Gln(p.R3395Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38455654:38455654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1694G>T |
| AA Mutation | p.Cys565Phe(p.C565F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485774:38485774(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5119C>T |
| AA Mutation | p.Arg1707Cys(p.R1707C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485931:38485931(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765080138 |
| CDS Mutation | c.5276G>A |
| AA Mutation | p.Arg1759Gln(p.R1759Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38475397:38475397(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs376330174 |
| CDS Mutation | c.4240G>A |
| AA Mutation | p.Val1414Met(p.V1414M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38448501:38448501(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs193922761 |
| CDS Mutation | c.947G>A |
| AA Mutation | p.Arg316His(p.R316H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38572154:38572154(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13882A>T |
| AA Mutation | p.Met4628Leu(p.M4628L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38502546:38502546(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748782984 |
| CDS Mutation | c.7654C>T |
| AA Mutation | p.Arg2552Cys(p.R2552C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38469041:38469041(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756789468 |
| CDS Mutation | c.3457G>A |
| AA Mutation | p.Asp1153Asn(p.D1153N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38578180:38578180(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14340G>C |
| AA Mutation | p.Lys4780Asn(p.K4780N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000359596 |
| Start | 38467811:38467811(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs545579559 |
| CDS Mutation | c.3380G>A |
| AA Mutation | p.Arg1127His(p.R1127H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458283:38458283(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2158C>T |
| AA Mutation | p.Leu720Phe(p.L720F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485666:38485666(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5011G>A |
| AA Mutation | p.Ala1671Thr(p.A1671T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38567901:38567901(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.13643A>G |
| AA Mutation | p.Gln4548Arg(p.Q4548R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485654:38485654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs144157950 |
| CDS Mutation | c.4999C>T |
| AA Mutation | p.Arg1667Cys(p.R1667C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38473512:38473512(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745920741 |
| CDS Mutation | c.3901C>T |
| AA Mutation | p.Arg1301Cys(p.R1301C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38506367:38506367(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8606G>T |
| AA Mutation | p.Arg2869Leu(p.R2869L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38510750:38510750(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756311466 |
| CDS Mutation | c.9091G>A |
| AA Mutation | p.Ala3031Thr(p.A3031T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38492546:38492546(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758631725 |
| CDS Mutation | c.6184C>T |
| AA Mutation | p.Arg2062Cys(p.R2062C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38466291:38466291(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs148146893 |
| CDS Mutation | c.3071G>A |
| AA Mutation | p.Arg1024His(p.R1024H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38573281:38573281(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14103G>C |
| AA Mutation | p.Gln4701His(p.Q4701H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458281:38458281(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2156A>T |
| AA Mutation | p.His719Leu(p.H719L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38506871:38506871(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8735C>T |
| AA Mutation | p.Thr2912Met(p.T2912M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38502670:38502670(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7778G>C |
| AA Mutation | p.Arg2593Pro(p.R2593P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38504857:38504857(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8177A>C |
| AA Mutation | p.Lys2726Thr(p.K2726T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38528351:38528351(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10870T>G |
| AA Mutation | p.Leu3624Val(p.L3624V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38466152:38466152(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2932C>T |
| AA Mutation | p.Pro978Ser(p.P978S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458292:38458292(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755496104 |
| CDS Mutation | c.2167G>A |
| AA Mutation | p.Gly723Arg(p.G723R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38443750:38443750(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.378G>A |
| AA Mutation | p.Met126Ile(p.M126I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38523227:38523227(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs187802601 |
| CDS Mutation | c.10358G>A |
| AA Mutation | p.Arg3453His(p.R3453H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38515053:38515053(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9500G>A |
| AA Mutation | p.Arg3167Gln(p.R3167Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38459157:38459157(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781271902 |
| CDS Mutation | c.2179C>T |
| AA Mutation | p.Arg727Cys(p.R727C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38512463:38512463(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9452A>G |
| AA Mutation | p.Gln3151Arg(p.Q3151R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38490248:38490248(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5987G>A |
| AA Mutation | p.Arg1996His(p.R1996H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38477755:38477755(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370851779 |
| CDS Mutation | c.4339G>A |
| AA Mutation | p.Val1447Met(p.V1447M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38512358:38512358(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200238436 |
| CDS Mutation | c.9347C>T |
| AA Mutation | p.Ser3116Leu(p.S3116L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38510720:38510720(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.9061C>A |
| AA Mutation | p.Pro3021Thr(p.P3021T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38443779:38443779(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.407T>G |
| AA Mutation | p.Leu136Arg(p.L136R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458134:38458134(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2009T>C |
| AA Mutation | p.Val670Ala(p.V670A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38512273:38512273(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs145044872 |
| CDS Mutation | c.9262G>A |
| AA Mutation | p.Val3088Met(p.V3088M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38496446:38496446(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6701G>A |
| AA Mutation | p.Arg2234His(p.R2234H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38446525:38446525(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.685T>G |
| AA Mutation | p.Cys229Gly(p.C229G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38548342:38548342(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12204G>T |
| AA Mutation | p.Lys4068Asn(p.K4068N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38446481:38446481(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs727504129 |
| CDS Mutation | c.641C>T |
| AA Mutation | p.Thr214Met(p.T214M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38517433:38517433(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9760G>A |
| AA Mutation | p.Gly3254Arg(p.G3254R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38455304:38455304(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1510G>A |
| AA Mutation | p.Glu504Lys(p.E504K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38459247:38459247(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2269C>A |
| AA Mutation | p.Arg757Ser(p.R757S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38499643:38499643(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs193922799 |
| CDS Mutation | c.7036G>A |
| AA Mutation | p.Val2346Met(p.V2346M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38455269:38455269(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1475G>A |
| AA Mutation | p.Arg492His(p.R492H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38467729:38467729(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750429900 |
| CDS Mutation | c.3298C>T |
| AA Mutation | p.Arg1100Cys(p.R1100C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38561402:38561402(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs765730833 |
| CDS Mutation | c.12572G>A |
| AA Mutation | p.Arg4191His(p.R4191H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000359596 |
| Start | 38507783:38507783(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8888T>A |
| AA Mutation | p.Leu2963Gln(p.L2963Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38469336:38469336(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3588C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485752:38485752(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs764290303 |
| CDS Mutation | c.5097C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38459327:38459327(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753447100 |
| CDS Mutation | c.2349G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38446742:38446742(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.774C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38460513:38460513(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2499C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38504240:38504240(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7947G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38477847:38477847(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs749306788 |
| CDS Mutation | c.4431T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38500638:38500638(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7356G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38494570:38494570(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6493C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38517555:38517555(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs142610625 |
| CDS Mutation | c.9882C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38525433:38525433(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10557C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38515033:38515033(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9480C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38577944:38577944(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751568439 |
| CDS Mutation | c.14199C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38575934:38575934(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14145C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38477793:38477793(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs772882086 |
| CDS Mutation | c.4377C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38494407:38494407(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6330C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38572138:38572138(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs370369058 |
| CDS Mutation | c.13866C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38537950:38537950(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs768447663 |
| CDS Mutation | c.11679G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38499768:38499768(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs766839127 |
| CDS Mutation | c.7161C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38496317:38496317(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs371006370 |
| CDS Mutation | c.6651C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38527760:38527760(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10800A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38528977:38528977(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs570008594 |
| CDS Mutation | c.11061G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38448790:38448790(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1099C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38475441:38475441(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs139622869 |
| CDS Mutation | c.4284C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38459276:38459276(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2298C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38494470:38494470(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6393G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485716:38485716(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5061C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38475396:38475396(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761036743 |
| CDS Mutation | c.4239C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38561382:38561382(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs775632796 |
| CDS Mutation | c.12552C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38500945:38500945(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778952441 |
| CDS Mutation | c.7569C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38489393:38489393(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs377314748 |
| CDS Mutation | c.5764T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38460447:38460447(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2433T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 96 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485869:38485869(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5214G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 97 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38463845:38463845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762155957 |
| CDS Mutation | c.2781G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 98 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38448693:38448693(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1002C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 99 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38458093:38458093(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs779450532 |
| CDS Mutation | c.1968G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38433853:38433853(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.24C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 101 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000359596 |
| Start | 38485881:38485881(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs567818625 |
| CDS Mutation | c.5226C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 102 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359596 |
| Start | 38494590:38494590(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.6517delC |
| AA Mutation | p.Gln2173ArgfsTer6(p.Q2173Rfs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 103 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359596 |
| Start | 38534775:38534775(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.11320delG |
| AA Mutation | p.Ala3774ArgfsTer8(p.A3774Rfs*8) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 104 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359596 |
| Start | 38473407:38473407(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.3801delC |
| AA Mutation | p.Cys1268AlafsTer4(p.C1268Afs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 105 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000359596 |
| Start | 38499948:38499948(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7255G>T |
| AA Mutation | p.Gly2419Ter(p.G2419*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 106 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000359596 |
| Start | 38489363:38489363(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5734G>T |
| AA Mutation | p.Glu1912Ter(p.E1912*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 107 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000359596 |
| Start | 38505826:38505826(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.8421G>A |
| AA Mutation | p.Trp2807Ter(p.W2807*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 108 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000359596 |
| Start | 38578034:38578035(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.14292dupG |
| AA Mutation | p.Leu4765AlafsTer106(p.L4765Afs*106) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 109 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000359596 |
| Start | 38523116:38523116(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs111436401 |
| CDS Mutation | c.10347+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |