Primary Site >> Stomach Cancer
Gene >> ANKRD11
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283963:89283963(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs145730800 |
| CDS Mutation | c.2579C>T |
| AA Mutation | p.Ser860Leu(p.S860L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89290679:89290679(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.547C>T |
| AA Mutation | p.Arg183Cys(p.R183C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89285521:89285521(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1021G>A |
| AA Mutation | p.Ala341Thr(p.A341T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284096:89284096(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2446G>A |
| AA Mutation | p.Glu816Lys(p.E816K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89286101:89286101(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.830C>T |
| AA Mutation | p.Pro277Leu(p.P277L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281935:89281935(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4607A>G |
| AA Mutation | p.Asp1536Gly(p.D1536G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282279:89282279(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4263A>T |
| AA Mutation | p.Glu1421Asp(p.E1421D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284577:89284577(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1965A>T |
| AA Mutation | p.Lys655Asn(p.K655N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283075:89283075(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3467G>T |
| AA Mutation | p.Arg1156Leu(p.R1156L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89286155:89286155(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.776A>G |
| AA Mutation | p.Asn259Ser(p.N259S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89317015:89317015(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5C>T |
| AA Mutation | p.Pro2Leu(p.P2L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89270888:89270888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7735C>T |
| AA Mutation | p.Arg2579Cys(p.R2579C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280504:89280504(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745685018 |
| CDS Mutation | c.6038C>T |
| AA Mutation | p.Ala2013Val(p.A2013V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282715:89282715(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs762783165 |
| CDS Mutation | c.3827C>T |
| AA Mutation | p.Ala1276Val(p.A1276V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89288539:89288539(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.733G>A |
| AA Mutation | p.Gly245Arg(p.G245R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282346:89282346(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752446167 |
| CDS Mutation | c.4196C>T |
| AA Mutation | p.Ala1399Val(p.A1399V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281845:89281845(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4697C>A |
| AA Mutation | p.Ala1566Asp(p.A1566D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89305241:89305241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750217123 |
| CDS Mutation | c.191C>T |
| AA Mutation | p.Ala64Val(p.A64V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284553:89284553(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs773130868 |
| CDS Mutation | c.1989C>G |
| AA Mutation | p.Asp663Glu(p.D663E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282008:89282008(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs372367879 |
| CDS Mutation | c.4534C>T |
| AA Mutation | p.Arg1512Cys(p.R1512C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282776:89282776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3766C>T |
| AA Mutation | p.His1256Tyr(p.H1256Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89285284:89285284(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs147180412 |
| CDS Mutation | c.1258G>A |
| AA Mutation | p.Val420Met(p.V420M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279995:89279995(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6547G>C |
| AA Mutation | p.Val2183Leu(p.V2183L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279428:89279428(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7114C>T |
| AA Mutation | p.Arg2372Cys(p.R2372C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89270887:89270887(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7736G>A |
| AA Mutation | p.Arg2579His(p.R2579H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280877:89280877(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs202034147 |
| CDS Mutation | c.5665A>G |
| AA Mutation | p.Lys1889Glu(p.K1889E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282370:89282370(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs779013481 |
| CDS Mutation | c.4172A>C |
| AA Mutation | p.Gln1391Pro(p.Q1391P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281861:89281861(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750132258 |
| CDS Mutation | c.4681C>A |
| AA Mutation | p.Pro1561Thr(p.P1561T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283682:89283682(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs745768322 |
| CDS Mutation | c.2860G>A |
| AA Mutation | p.Ala954Thr(p.A954T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89290628:89290628(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.598G>A |
| AA Mutation | p.Ala200Thr(p.A200T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281651:89281651(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4891C>T |
| AA Mutation | p.Arg1631Trp(p.R1631W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281702:89281702(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4840C>T |
| AA Mutation | p.Arg1614Trp(p.R1614W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280097:89280097(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6445G>A |
| AA Mutation | p.Ala2149Thr(p.A2149T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283864:89283864(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2678G>A |
| AA Mutation | p.Arg893Gln(p.R893Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282487:89282487(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4055A>G |
| AA Mutation | p.His1352Arg(p.H1352R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282762:89282762(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs139288405 |
| CDS Mutation | c.3780G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283629:89283629(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2913G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282593:89282593(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3949C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284871:89284871(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs562839386 |
| CDS Mutation | c.1671G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89274868:89274868(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs559756815 |
| CDS Mutation | c.7659C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284964:89284964(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771353238 |
| CDS Mutation | c.1578C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280737:89280737(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5805C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280968:89280968(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs775649989 |
| CDS Mutation | c.5574G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280161:89280161(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6381C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89285525:89285525(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1017C>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279144:89279144(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7398C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89291086:89291086(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.324C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282558:89282558(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3984A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279288:89279288(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7254C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279225:89279225(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761840700 |
| CDS Mutation | c.7317C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281337:89281337(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5205C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89281961:89281961(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4581T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89270886:89270886(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs575272377 |
| CDS Mutation | c.7737C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279411:89279411(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7131C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283430:89283430(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3112delA |
| AA Mutation | p.Ser1038ValfsTer280(p.S1038Vfs*280) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283215:89283216(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3326_3327delAA |
| AA Mutation | p.Lys1109ArgfsTer13(p.K1109Rfs*13) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89290823:89290823(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.403delA |
| AA Mutation | p.Thr135GlnfsTer27(p.T135Qfs*27) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89279332:89279351(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.7191_7210delGCAGCAGCTGAACACGTCCA |
| AA Mutation | p.Gln2397HisfsTer128(p.Q2397Hfs*128) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89283233:89283233(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.3309delA |
| AA Mutation | p.Asp1104MetfsTer214(p.D1104Mfs*214) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89280912:89280912(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5630delC |
| AA Mutation | p.Pro1877ArgfsTer86(p.P1877Rfs*86) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89282948:89282948(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.3594delA |
| AA Mutation | p.Glu1199ArgfsTer119(p.E1199Rfs*119) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000301030 |
| Start | 89284741:89284741(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1801C>T |
| AA Mutation | p.Arg601Ter(p.R601*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89286099:89286100(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.831dupC |
| AA Mutation | p.Thr278HisfsTer71(p.T278Hfs*71) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000301030 |
| Start | 89284648:89284649(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.1893dupA |
| AA Mutation | p.His632ThrfsTer2(p.H632Tfs*2) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000301030 |
| Start | 89283278:89283280(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs780245711 |
| CDS Mutation | c.3262_3264delGAG |
| AA Mutation | p.Glu1088del(p.E1088del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |