Primary Site >> Stomach Cancer
Gene >> KMT2D
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038111:49038111(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9245G>A |
| AA Mutation | p.Arg3082Gln(p.R3082Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49027076:49027076(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs759822794 |
| CDS Mutation | c.14890C>T |
| AA Mutation | p.Arg4964Cys(p.R4964C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49028022:49028022(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14502A>T |
| AA Mutation | p.Glu4834Asp(p.E4834D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040769:49040769(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs757300574 |
| CDS Mutation | c.7001G>A |
| AA Mutation | p.Arg2334Gln(p.R2334Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040199:49040199(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760263014 |
| CDS Mutation | c.7571C>T |
| AA Mutation | p.Thr2524Met(p.T2524M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49033642:49033642(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11063G>C |
| AA Mutation | p.Gly3688Ala(p.G3688A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038061:49038061(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747415183 |
| CDS Mutation | c.9295C>T |
| AA Mutation | p.Arg3099Cys(p.R3099C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49031993:49031993(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs398123714 |
| CDS Mutation | c.12712C>T |
| AA Mutation | p.Arg4238Cys(p.R4238C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026490:49026490(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15476G>A |
| AA Mutation | p.Arg5159Gln(p.R5159Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49046667:49046667(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4360A>G |
| AA Mutation | p.Thr1454Ala(p.T1454A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49052224:49052224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs367559440 |
| CDS Mutation | c.1459C>T |
| AA Mutation | p.Arg487Trp(p.R487W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026326:49026326(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15640C>T |
| AA Mutation | p.Arg5214Cys(p.R5214C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038060:49038060(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778257510 |
| CDS Mutation | c.9296G>A |
| AA Mutation | p.Arg3099His(p.R3099H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038643:49038643(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8713C>T |
| AA Mutation | p.Arg2905Cys(p.R2905C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040550:49040550(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7220C>A |
| AA Mutation | p.Pro2407His(p.P2407H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49048066:49048066(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4135A>G |
| AA Mutation | p.Met1379Val(p.M1379V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49034927:49034927(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10240A>G |
| AA Mutation | p.Lys3414Glu(p.K3414E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051255:49051255(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2428A>G |
| AA Mutation | p.Thr810Ala(p.T810A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026506:49026506(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs768551828 |
| CDS Mutation | c.15460C>T |
| AA Mutation | p.Arg5154Trp(p.R5154W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49041674:49041674(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748389081 |
| CDS Mutation | c.6215G>A |
| AA Mutation | p.Arg2072His(p.R2072H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051891:49051891(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778514296 |
| CDS Mutation | c.1792C>T |
| AA Mutation | p.Arg598Cys(p.R598C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49033721:49033721(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10984A>G |
| AA Mutation | p.Met3662Val(p.M3662V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49032154:49032154(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12551G>A |
| AA Mutation | p.Gly4184Asp(p.G4184D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026460:49026460(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15506T>C |
| AA Mutation | p.Ile5169Thr(p.I5169T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026878:49026878(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15088C>T |
| AA Mutation | p.Arg5030Cys(p.R5030C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49024860:49024860(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15871G>A |
| AA Mutation | p.Glu5291Lys(p.E5291K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49046776:49046776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200353763 |
| CDS Mutation | c.4251G>A |
| AA Mutation | p.Met1417Ile(p.M1417I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49049893:49049893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3695C>T |
| AA Mutation | p.Pro1232Leu(p.P1232L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49034416:49034416(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10501G>A |
| AA Mutation | p.Val3501Met(p.V3501M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49050409:49050409(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3179A>C |
| AA Mutation | p.Lys1060Thr(p.K1060T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49050556:49050556(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760253122 |
| CDS Mutation | c.3032C>T |
| AA Mutation | p.Pro1011Leu(p.P1011L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49049720:49049720(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769946520 |
| CDS Mutation | c.3868C>T |
| AA Mutation | p.Arg1290Trp(p.R1290W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49032530:49032530(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12175G>A |
| AA Mutation | p.Ala4059Thr(p.A4059T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49028113:49028113(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.14411C>T |
| AA Mutation | p.Ala4804Val(p.A4804V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49033694:49033694(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11011C>T |
| AA Mutation | p.Pro3671Ser(p.P3671S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49030765:49030765(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13675C>G |
| AA Mutation | p.Leu4559Val(p.L4559V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49022340:49022340(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16352A>G |
| AA Mutation | p.Tyr5451Cys(p.Y5451C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026241:49026241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15725T>C |
| AA Mutation | p.Val5242Ala(p.V5242A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040136:49040136(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7634C>A |
| AA Mutation | p.Pro2545His(p.P2545H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49031302:49031302(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13403G>A |
| AA Mutation | p.Arg4468Gln(p.R4468Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49031675:49031675(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13030C>T |
| AA Mutation | p.Pro4344Ser(p.P4344S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49031509:49031509(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13196T>C |
| AA Mutation | p.Leu4399Pro(p.L4399P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026325:49026325(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs398123729 |
| CDS Mutation | c.15641G>A |
| AA Mutation | p.Arg5214His(p.R5214H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49022135:49022135(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16429T>G |
| AA Mutation | p.Cys5477Gly(p.C5477G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49034161:49034161(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10646C>T |
| AA Mutation | p.Ala3549Val(p.A3549V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040452:49040452(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs375114492 |
| CDS Mutation | c.7318G>A |
| AA Mutation | p.Val2440Ile(p.V2440I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040946:49040946(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761636357 |
| CDS Mutation | c.6824C>T |
| AA Mutation | p.Pro2275Leu(p.P2275L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49022117:49022117(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16447G>A |
| AA Mutation | p.Ala5483Thr(p.A5483T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49032608:49032608(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778746265 |
| CDS Mutation | c.12097G>A |
| AA Mutation | p.Val4033Ile(p.V4033I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301067 |
| Start | 49041364:49041364(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6406T>C |
| AA Mutation | p.Ser2136Pro(p.S2136P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49030935:49030935(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748135755 |
| CDS Mutation | c.13629C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49022757:49022757(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.16171C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49054048:49054048(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781620078 |
| CDS Mutation | c.603C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49050905:49050905(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2778G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040066:49040066(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs758460806 |
| CDS Mutation | c.7704C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49041017:49041017(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs768288559 |
| CDS Mutation | c.6753G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026423:49026423(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.15543G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49022115:49022115(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs372675867 |
| CDS Mutation | c.16449C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49044841:49044841(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs755279282 |
| CDS Mutation | c.4866C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49046716:49046716(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs754428432 |
| CDS Mutation | c.4311C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49049844:49049844(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3744T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49046775:49046775(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4252C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051934:49051934(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs774536143 |
| CDS Mutation | c.1749T>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49041524:49041524(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6246C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49052204:49052204(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750444806 |
| CDS Mutation | c.1479C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040567:49040567(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7203C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301067 |
| Start | 49042790:49042790(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5733C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49053990:49053990(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.661delG |
| AA Mutation | p.Ala221LeufsTer40(p.A221Lfs*40) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051743:49051743(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1940delC |
| AA Mutation | p.Pro647HisfsTer283(p.P647Hfs*283) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040709:49040709(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.7061delC |
| AA Mutation | p.Pro2354LeufsTer30(p.P2354Lfs*30) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040222:49040222(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.7548delC |
| AA Mutation | p.Asn2517IlefsTer26(p.N2517Ifs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49054625:49054625(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs797045661 |
| CDS Mutation | c.303delG |
| AA Mutation | p.Ser102AlafsTer28(p.S102Afs*28) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49049884:49049884(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.3704delG |
| AA Mutation | p.Gly1235ValfsTer95(p.G1235Vfs*95) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040601:49040601(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.7169delC |
| AA Mutation | p.Pro2390ArgfsTer36(p.P2390Rfs*36) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49044438:49044439(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5047_5048delGA |
| AA Mutation | p.Glu1683LysfsTer7(p.E1683Kfs*7) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49024654:49024654(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.15976delC |
| AA Mutation | p.Met5327TrpfsTer6(p.M5327Wfs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49044428:49044428(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5058delA |
| AA Mutation | p.Lys1686AsnfsTer36(p.K1686Nfs*36) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49039990:49039990(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs35050033 |
| CDS Mutation | c.7780delC |
| AA Mutation | p.Leu2594TrpfsTer97(p.L2594Wfs*97) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49048033:49048033(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.4168delG |
| AA Mutation | p.Ala1390GlnfsTer27(p.A1390Qfs*27) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051026:49051026(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.2657delC |
| AA Mutation | p.Pro886LeufsTer44(p.P886Lfs*44) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051717:49051717(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1966delC |
| AA Mutation | p.Leu656CysfsTer274(p.L656Cfs*274) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49026519:49026520(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.15446_15447delTT |
| AA Mutation | p.Phe5149CysfsTer9(p.F5149Cfs*9) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49033329:49033329(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.11376delT |
| AA Mutation | p.Gln3793AsnfsTer37(p.Q3793Nfs*37) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051366:49051366(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.2317delC |
| AA Mutation | p.Gln773SerfsTer157(p.Q773Sfs*157) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038091:49038091(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.9265delG |
| AA Mutation | p.Val3089TrpfsTer30(p.V3089Wfs*30) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49054697:49054697(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.231delC |
| AA Mutation | p.His77GlnfsTer53(p.H77Qfs*53) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49043171:49043171(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5549delG |
| AA Mutation | p.Gly1850AlafsTer2(p.G1850Afs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49040353:49040353(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.7417delC |
| AA Mutation | p.Gln2473SerfsTer12(p.Q2473Sfs*12) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49030958:49030958(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587783692 |
| CDS Mutation | c.13606C>T |
| AA Mutation | p.Arg4536Ter(p.R4536*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49032686:49032686(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12019C>T |
| AA Mutation | p.Gln4007Ter(p.Q4007*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49031255:49031255(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587783690 |
| CDS Mutation | c.13450C>T |
| AA Mutation | p.Arg4484Ter(p.R4484*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49044442:49044442(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5044G>T |
| AA Mutation | p.Glu1682Ter(p.E1682*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49032743:49032743(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11962C>T |
| AA Mutation | p.Gln3988Ter(p.Q3988*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49044284:49044284(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5104C>T |
| AA Mutation | p.Arg1702Ter(p.R1702*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301067 |
| Start | 49027256:49027256(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs398123721 |
| CDS Mutation | c.14710C>T |
| AA Mutation | p.Arg4904Ter(p.R4904*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 96 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49054062:49054063(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.588_589insA |
| AA Mutation | p.Cys197MetfsTer23(p.C197Mfs*23) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 97 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49051257:49051258(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.2425dupC |
| AA Mutation | p.Gln809ProfsTer3(p.Q809Pfs*3) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 98 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49038127:49038128(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.9228dupT |
| AA Mutation | p.Asn3077Ter(p.N3077*) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 99 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49050964:49050965(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.2715_2718dupACCA |
| AA Mutation | p.Pro907ThrfsTer63(p.P907Tfs*63) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301067 |
| Start | 49041415:49041416(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs755159728 |
| CDS Mutation | c.6354dupC |
| AA Mutation | p.Ala2119ArgfsTer36(p.A2119Rfs*36) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |