Primary Site >> Stomach Cancer
Gene >> VPS13B
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99642373:99642373(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.5858C>A |
| AA Mutation | p.Pro1953His(p.P1953H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99135699:99135699(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs771667880 |
| CDS Mutation | c.1529G>A |
| AA Mutation | p.Arg510His(p.R510H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99778726:99778726(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7549C>T |
| AA Mutation | p.Pro2517Ser(p.P2517S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99103042:99103042(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs750201290 |
| CDS Mutation | c.502G>A |
| AA Mutation | p.Val168Ile(p.V168I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99511126:99511126(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4322G>A |
| AA Mutation | p.Gly1441Asp(p.G1441D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99511419:99511419(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4615C>G |
| AA Mutation | p.Leu1539Val(p.L1539V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99776893:99776893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201963516 |
| CDS Mutation | c.7441G>A |
| AA Mutation | p.Val2481Ile(p.V2481I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99642118:99642118(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs141211386 |
| CDS Mutation | c.5603A>T |
| AA Mutation | p.Glu1868Val(p.E1868V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99013835:99013835(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.47G>C |
| AA Mutation | p.Arg16Pro(p.R16P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99391615:99391615(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2993T>C |
| AA Mutation | p.Val998Ala(p.V998A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99275152:99275152(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2722A>G |
| AA Mutation | p.Lys908Glu(p.K908E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99274240:99274240(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2558T>C |
| AA Mutation | p.Ile853Thr(p.I853T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99156654:99156654(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2119T>C |
| AA Mutation | p.Tyr707His(p.Y707H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99642372:99642372(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5857C>T |
| AA Mutation | p.Pro1953Ser(p.P1953S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99717188:99717188(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6547T>A |
| AA Mutation | p.Ser2183Thr(p.S2183T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99848839:99848839(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748996302 |
| CDS Mutation | c.10081T>G |
| AA Mutation | p.Phe3361Val(p.F3361V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99111160:99111160(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.643C>T |
| AA Mutation | p.Arg215Trp(p.R215W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99854071:99854071(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs549125520 |
| CDS Mutation | c.10757G>A |
| AA Mutation | p.Arg3586Gln(p.R3586Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000358544 |
| Start | 99577633:99577633(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs780598553 |
| CDS Mutation | c.5295G>T |
| AA Mutation | p.Glu1765Asp(p.E1765D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99823938:99823938(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9365A>G |
| AA Mutation | p.Lys3122Arg(p.K3122R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853806:99853806(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10492A>G |
| AA Mutation | p.Lys3498Glu(p.K3498E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99511311:99511311(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4507C>T |
| AA Mutation | p.Leu1503Phe(p.L1503F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99778841:99778841(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7664A>G |
| AA Mutation | p.Lys2555Arg(p.K2555R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853627:99853627(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.10313C>T |
| AA Mutation | p.Ala3438Val(p.A3438V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99820082:99820082(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9029A>G |
| AA Mutation | p.Gln3010Arg(p.Q3010R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99103099:99103099(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs367561688 |
| CDS Mutation | c.559C>T |
| AA Mutation | p.Arg187Cys(p.R187C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853977:99853977(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.10663G>A |
| AA Mutation | p.Ala3555Thr(p.A3555T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99717228:99717228(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs751998053 |
| CDS Mutation | c.6587G>A |
| AA Mutation | p.Ser2196Asn(p.S2196N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853902:99853902(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs763017122 |
| CDS Mutation | c.10588C>T |
| AA Mutation | p.Arg3530Trp(p.R3530W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99467624:99467624(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs149478021 |
| CDS Mutation | c.3656C>G |
| AA Mutation | p.Ser1219Cys(p.S1219C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99507844:99507844(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4232G>A |
| AA Mutation | p.Arg1411His(p.R1411H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99819452:99819452(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.8737A>G |
| AA Mutation | p.Thr2913Ala(p.T2913A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99192938:99192938(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2396A>G |
| AA Mutation | p.Gln799Arg(p.Q799R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99720925:99720925(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7003G>T |
| AA Mutation | p.Gly2335Trp(p.G2335W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000358544 |
| Start | 99832652:99832652(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9689G>T |
| AA Mutation | p.Arg3230Met(p.R3230M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99835674:99835674(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9953A>G |
| AA Mutation | p.Glu3318Gly(p.E3318G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99778721:99778721(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7544A>G |
| AA Mutation | p.Asn2515Ser(p.N2515S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99384241:99384241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.2858C>T |
| AA Mutation | p.Ala953Val(p.A953V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99391680:99391680(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3058C>T |
| AA Mutation | p.Pro1020Ser(p.P1020S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99699545:99699545(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6142T>A |
| AA Mutation | p.Ser2048Thr(p.S2048T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99859378:99859378(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748727467 |
| CDS Mutation | c.11017G>A |
| AA Mutation | p.Asp3673Asn(p.D3673N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99511455:99511455(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4651A>G |
| AA Mutation | p.Thr1551Ala(p.T1551A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853857:99853857(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs398124325 |
| CDS Mutation | c.10543A>G |
| AA Mutation | p.Ile3515Val(p.I3515V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99556582:99556582(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4953C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99096359:99096359(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.339T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99121322:99121322(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1083T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99481667:99481667(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3735T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99832572:99832572(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9609A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99661424:99661424(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.6054A>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99431601:99431601(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3147T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99507890:99507890(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.4278T>C |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99776892:99776892(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs748588048 |
| CDS Mutation | c.7440C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99821359:99821359(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.9135A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000358544 |
| Start | 99859464:99859464(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs746157283 |
| CDS Mutation | c.11103A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99853662:99853662(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.10351delG |
| AA Mutation | p.Asp3451ThrfsTer4(p.D3451Tfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99038443:99038443(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.173delT |
| AA Mutation | p.Leu58Ter(p.L58*) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99642246:99642246(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.5737delA |
| AA Mutation | p.Ile1913Ter(p.I1913*) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99642118:99642118(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.5608delA |
| AA Mutation | p.Thr1870GlnfsTer6(p.T1870Qfs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99121380:99121380(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1141delC |
| AA Mutation | p.Gln381ArgfsTer3(p.Q381Rfs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000358544 |
| Start | 99720407:99720407(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6795C>A |
| AA Mutation | p.Tyr2265Ter(p.Y2265*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000358544 |
| Start | 99556475:99556475(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs752429062 |
| CDS Mutation | c.4846C>T |
| AA Mutation | p.Arg1616Ter(p.R1616*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000358544 |
| Start | 99135674:99135674(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs180177354 |
| CDS Mutation | c.1504C>T |
| AA Mutation | p.Arg502Ter(p.R502*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000358544 |
| Start | 99511480:99511481(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.4681dupA |
| AA Mutation | p.Thr1561AsnfsTer9(p.T1561Nfs*9) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000358544 |
| Start | 99136753:99136754(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1651+3_1651+4dupAT |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |