Primary Site >> Stomach Cancer
Gene >> MYCBP2
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77089004:77089004(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs746210833 |
| CDS Mutation | c.10439C>T |
| AA Mutation | p.Pro3480Leu(p.P3480L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77168457:77168457(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5971T>C |
| AA Mutation | p.Tyr1991His(p.Y1991H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77090153:77090153(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10364C>A |
| AA Mutation | p.Ala3455Glu(p.A3455E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77097704:77097704(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9336G>A |
| AA Mutation | p.Met3112Ile(p.M3112I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77057057:77057057(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs151151149 |
| CDS Mutation | c.13252C>T |
| AA Mutation | p.Arg4418Trp(p.R4418W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77177893:77177893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5081G>A |
| AA Mutation | p.Ser1694Asn(p.S1694N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77062664:77062664(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12592G>C |
| AA Mutation | p.Asp4198His(p.D4198H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77150829:77150829(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751642278 |
| CDS Mutation | c.6922A>G |
| AA Mutation | p.Met2308Val(p.M2308V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77188986:77188986(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4102A>G |
| AA Mutation | p.Ile1368Val(p.I1368V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77205324:77205324(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3661G>A |
| AA Mutation | p.Asp1221Asn(p.D1221N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77098510:77098510(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201408082 |
| CDS Mutation | c.8530C>T |
| AA Mutation | p.Arg2844Cys(p.R2844C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77140135:77140135(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7316C>T |
| AA Mutation | p.Ala2439Val(p.A2439V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000357337 |
| Start | 77077149:77077149(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11609A>C |
| AA Mutation | p.Gln3870Pro(p.Q3870P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77260581:77260581(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs369757801 |
| CDS Mutation | c.1750C>T |
| AA Mutation | p.Arg584Trp(p.R584W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77326519:77326519(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.143A>T |
| AA Mutation | p.Asn48Ile(p.N48I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77177805:77177805(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5169C>A |
| AA Mutation | p.Phe1723Leu(p.F1723L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77243075:77243075(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2499A>C |
| AA Mutation | p.Arg833Ser(p.R833S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77125458:77125458(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7781C>A |
| AA Mutation | p.Ser2594Tyr(p.S2594Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77212007:77212007(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3097A>G |
| AA Mutation | p.Asn1033Asp(p.N1033D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77263752:77263752(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1355A>G |
| AA Mutation | p.Glu452Gly(p.E452G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77097820:77097820(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9220A>T |
| AA Mutation | p.Met3074Leu(p.M3074L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77273507:77273507(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.796A>G |
| AA Mutation | p.Thr266Ala(p.T266A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77098032:77098032(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9008A>G |
| AA Mutation | p.His3003Arg(p.H3003R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77180147:77180147(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4999G>A |
| AA Mutation | p.Ala1667Thr(p.A1667T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77083141:77083141(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10813G>A |
| AA Mutation | p.Gly3605Arg(p.G3605R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77211276:77211276(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3193C>T |
| AA Mutation | p.Leu1065Phe(p.L1065F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77068632:77068632(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11990A>G |
| AA Mutation | p.Gln3997Arg(p.Q3997R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77168515:77168515(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5913G>T |
| AA Mutation | p.Gln1971His(p.Q1971H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77188997:77188997(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4091A>C |
| AA Mutation | p.Glu1364Ala(p.E1364A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77061738:77061738(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12713A>C |
| AA Mutation | p.Asn4238Thr(p.N4238T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77181792:77181792(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745584235 |
| CDS Mutation | c.4736G>A |
| AA Mutation | p.Arg1579Gln(p.R1579Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77096467:77096467(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9685G>A |
| AA Mutation | p.Ala3229Thr(p.A3229T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77146186:77146186(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs769751615 |
| CDS Mutation | c.7049G>A |
| AA Mutation | p.Arg2350His(p.R2350H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77090256:77090256(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10261A>G |
| AA Mutation | p.Thr3421Ala(p.T3421A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77051074:77051074(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.13730A>G |
| AA Mutation | p.His4577Arg(p.H4577R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77062636:77062636(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12620C>T |
| AA Mutation | p.Ser4207Leu(p.S4207L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77270316:77270316(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1054G>A |
| AA Mutation | p.Gly352Arg(p.G352R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000357337 |
| Start | 77068704:77068704(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11918C>G |
| AA Mutation | p.Ala3973Gly(p.A3973G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77140086:77140086(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7365C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77077328:77077328(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.11430T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77081894:77081894(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs138813052 |
| CDS Mutation | c.11022C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77061713:77061713(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.12738C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77062638:77062638(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.12618C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77058356:77058356(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs749666502 |
| CDS Mutation | c.13077C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77181860:77181860(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4668T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77206786:77206786(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs184772749 |
| CDS Mutation | c.3342G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77157999:77157999(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6594A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77058401:77058401(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs764902502 |
| CDS Mutation | c.13032C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77206708:77206708(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3420A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77171553:77171553(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs766498773 |
| CDS Mutation | c.5619T>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77068649:77068649(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs778276349 |
| CDS Mutation | c.11973C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000357337 |
| Start | 77233163:77233163(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2616G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77326501:77326501(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.161delG |
| AA Mutation | p.Gly54AlafsTer15(p.G54Afs*15) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77097534:77097534(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.9506delA |
| AA Mutation | p.Lys3169ArgfsTer26(p.K3169Rfs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77191765:77191765(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3870delG |
| AA Mutation | p.Trp1291GlyfsTer79(p.W1291Gfs*79) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77270014:77270014(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1124delA |
| AA Mutation | p.Lys375SerfsTer4(p.K375Sfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77150913:77150913(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.6838delA |
| AA Mutation | p.Met2280CysfsTer20(p.M2280Cfs*20) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77067782:77067782(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.12140delC |
| AA Mutation | p.Pro4047GlnfsTer26(p.P4047Qfs*26) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77097448:77097448(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.9592delG |
| AA Mutation | p.Glu3198ArgfsTer17(p.E3198Rfs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77076793:77076793(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.11667delA |
| AA Mutation | p.Ala3890HisfsTer21(p.A3890Hfs*21) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000357337 |
| Start | 77225489:77225489(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2689C>T |
| AA Mutation | p.Arg897Ter(p.R897*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000357337 |
| Start | 77205350:77205350(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3635C>A |
| AA Mutation | p.Ser1212Ter(p.S1212*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000357337 |
| Start | 77077174:77077174(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11584C>T |
| AA Mutation | p.Arg3862Ter(p.R3862*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000357337 |
| Start | 77098486:77098486(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8554G>T |
| AA Mutation | p.Glu2852Ter(p.E2852*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000357337 |
| Start | 77096473:77096473(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9679C>T |
| AA Mutation | p.Arg3227Ter(p.R3227*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77064696:77064697(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.12476dupA |
| AA Mutation | p.Asn4159LysfsTer18(p.N4159Kfs*18) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77097569:77097570(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.9470dupA |
| AA Mutation | p.Lys3158GlufsTer4(p.K3158Efs*4) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000357337 |
| Start | 77150912:77150913(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs776222254 |
| CDS Mutation | c.6838dupA |
| AA Mutation | p.Met2280AsnfsTer26(p.M2280Nfs*26) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID | ENST00000357337 |
| Start | 77156044:77156077(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.6782_6801+14delTACATGTTCCCAATATGAAGGTAATTATAACTGG |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000357337 |
| Start | 77233265:77233265(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs373873724 |
| CDS Mutation | c.2516-2A>G |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |