Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SRCAP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30736315:30736315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6845G>A
AA Mutation p.Gly2282Glu(p.G2282E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30724206:30724206(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4782G>T
AA Mutation p.Gln1594His(p.Q1594H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30723634:30723634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4210C>T
AA Mutation p.Pro1404Ser(p.P1404S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30712071:30712071(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1729A>G
AA Mutation p.Thr577Ala(p.T577A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30720936:30720936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3211C>G
AA Mutation p.Leu1071Val(p.L1071V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30736556:30736556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745546363
CDS Mutation c.6940C>T
AA Mutation p.Arg2314Cys(p.R2314C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30713317:30713317(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2240A>C
AA Mutation p.Glu747Ala(p.E747A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30722975:30722975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3905T>C
AA Mutation p.Met1302Thr(p.M1302T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30720847:30720847(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3122T>A
AA Mutation p.Val1041Asp(p.V1041D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30723675:30723675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4251T>G
AA Mutation p.Ile1417Met(p.I1417M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30716119:30716119(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768182666
CDS Mutation c.2547G>A
AA Mutation p.Met849Ile(p.M849I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30724405:30724405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4981C>G
AA Mutation p.Gln1661Glu(p.Q1661E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30707679:30707679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.600G>T
AA Mutation p.Lys200Asn(p.K200N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30733692:30733692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6388G>A
AA Mutation p.Ala2130Thr(p.A2130T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30707633:30707633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.554G>T
AA Mutation p.Arg185Met(p.R185M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30724745:30724745(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769850314
CDS Mutation c.5321C>T
AA Mutation p.Ser1774Leu(p.S1774L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30733695:30733695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6391G>A
AA Mutation p.Asp2131Asn(p.D2131N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30739488:30739488(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9448G>A
AA Mutation p.Gly3150Arg(p.G3150R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30713620:30713620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2402G>A
AA Mutation p.Arg801His(p.R801H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30724442:30724442(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779824702
CDS Mutation c.5018C>T
AA Mutation p.Pro1673Leu(p.P1673L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30737344:30737344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747379245
CDS Mutation c.7304G>A
AA Mutation p.Arg2435Gln(p.R2435Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30737182:30737182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765139685
CDS Mutation c.7142G>A
AA Mutation p.Arg2381His(p.R2381H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30713287:30713287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2210G>A
AA Mutation p.Arg737His(p.R737H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30733633:30733633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6329G>A
AA Mutation p.Arg2110His(p.R2110H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30738523:30738523(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148477226
CDS Mutation c.8483G>A
AA Mutation p.Arg2828His(p.R2828H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30737253:30737253(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7213G>C
AA Mutation p.Glu2405Gln(p.E2405Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30720744:30720744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3019C>T
AA Mutation p.Arg1007Trp(p.R1007W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30716132:30716132(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2560G>A
AA Mutation p.Glu854Lys(p.E854K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30709971:30709971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778738758
CDS Mutation c.977G>A
AA Mutation p.Arg326His(p.R326H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30713527:30713527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2309G>A
AA Mutation p.Arg770His(p.R770H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30738298:30738298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8258G>A
AA Mutation p.Arg2753Gln(p.R2753Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30739507:30739507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371418984
CDS Mutation c.9467G>A
AA Mutation p.Arg3156His(p.R3156H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30723970:30723970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4546T>G
AA Mutation p.Ser1516Ala(p.S1516A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30738136:30738136(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747073084
CDS Mutation c.8096C>T
AA Mutation p.Ala2699Val(p.A2699V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30738901:30738901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8861T>G
AA Mutation p.Ile2954Ser(p.I2954S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30739657:30739657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9617G>A
AA Mutation p.Arg3206His(p.R3206H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30736391:30736391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6921A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30724599:30724599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5175A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30725073:30725073(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5649T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30739337:30739337(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146224299
CDS Mutation c.9297C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30720719:30720719(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745483557
CDS Mutation c.2994G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30724536:30724536(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199654817
CDS Mutation c.5112G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30723630:30723630(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149090781
CDS Mutation c.4206C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30724329:30724329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752433133
CDS Mutation c.4905G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30723147:30723147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4077T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30712142:30712142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201021189
CDS Mutation c.1800G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30722732:30722732(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572583283
CDS Mutation c.3876G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30720293:30720293(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2949C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30738926:30738926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs185172515
CDS Mutation c.8886C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30713321:30713321(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138153762
CDS Mutation c.2244G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30733930:30733930(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6536delA
AA Mutation p.Lys2179ArgfsTer128(p.K2179Rfs*128)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30724993:30724993(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5574delC
AA Mutation p.Ser1859AlafsTer108(p.S1859Afs*108)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30738960:30738960(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8923delC
AA Mutation p.Leu2975Ter(p.L2975*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30725050:30725050(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs748467821
CDS Mutation c.5633delC
AA Mutation p.Pro1878HisfsTer89(p.P1878Hfs*89)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30725031:30725031(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5611delC
AA Mutation p.Arg1871GlyfsTer96(p.R1871Gfs*96)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30722589:30722589(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3738delG
AA Mutation p.Gln1247SerfsTer57(p.Q1247Sfs*57)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000262518
Start 30707689:30707689(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.610C>T
AA Mutation p.Gln204Ter(p.Q204*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000262518
Start 30738855:30738855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8815C>T
AA Mutation p.Arg2939Ter(p.R2939*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30737668:30737669(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.7632dupC
AA Mutation p.Arg2548GlufsTer3(p.R2548Efs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30725049:30725050(version: GRCh38)
Mutation Type INS
dbSNP_RS rs777283863
CDS Mutation c.5633dupC
AA Mutation p.Pro1879ThrfsTer21(p.P1879Tfs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000262518
Start 30709850:30709850(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.857-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 62
Mutation Consequence inframe_deletion
Transcription ID ENST00000262518
Start 30737761:30737763(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs771347898
CDS Mutation c.7725_7727delCTC
AA Mutation p.Ser2576del(p.S2576del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> SRCAP

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30739275:30739275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768225785
CDS Mutation c.9235C>T
AA Mutation p.Arg3079Trp(p.R3079W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30733695:30733695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6391G>A
AA Mutation p.Asp2131Asn(p.D2131N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30737178:30737178(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7138C>T
AA Mutation p.Arg2380Trp(p.R2380W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30738210:30738210(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8170A>G
AA Mutation p.Thr2724Ala(p.T2724A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30724346:30724346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4922C>A
AA Mutation p.Ser1641Tyr(p.S1641Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262518
Start 30720919:30720919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778106954
CDS Mutation c.3194G>A
AA Mutation p.Arg1065Gln(p.R1065Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30723810:30723810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4386C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000262518
Start 30737438:30737438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7398A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30722195:30722204(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3615_3624delACCTCTCACC
AA Mutation p.Lys1205AsnfsTer9(p.K1205Nfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30725050:30725050(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs748467821
CDS Mutation c.5633delC
AA Mutation p.Pro1878HisfsTer89(p.P1878Hfs*89)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30738945:30738945(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8909delC
AA Mutation p.Pro2970HisfsTer6(p.P2970Hfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000262518
Start 30712748:30712749(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2063_2064insA
AA Mutation p.Trp689ValfsTer6(p.W689Vfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript