Primary Site >> Stomach Cancer

Gene >> RNF213

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80367776:80367776(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11900C>T
AA Mutation p.Thr3967Met(p.T3967M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80380848:80380848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13658C>T
AA Mutation p.Thr4553Met(p.T4553M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80309071:80309071(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2555A>C
AA Mutation p.His852Pro(p.H852P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80364527:80364527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11845A>G
AA Mutation p.Thr3949Ala(p.T3949A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80295593:80295593(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1792G>A
AA Mutation p.Val598Met(p.V598M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000582970
Start 80319312:80319312(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3024G>T
AA Mutation p.Gln1008His(p.Q1008H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80363627:80363627(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577982374
CDS Mutation c.11587G>A
AA Mutation p.Ala3863Thr(p.A3863T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80347801:80347801(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762758341
CDS Mutation c.9466G>A
AA Mutation p.Val3156Ile(p.V3156I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80371959:80371959(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12511T>C
AA Mutation p.Tyr4171His(p.Y4171H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80345810:80345810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200099417
CDS Mutation c.7475C>T
AA Mutation p.Thr2492Met(p.T2492M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80340146:80340146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376697766
CDS Mutation c.5779G>A
AA Mutation p.Val1927Ile(p.V1927I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80369773:80369773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12331T>C
AA Mutation p.Cys4111Arg(p.C4111R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80368038:80368038(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12050G>A
AA Mutation p.Cys4017Tyr(p.C4017Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80345503:80345503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200989987
CDS Mutation c.7168G>A
AA Mutation p.Asp2390Asn(p.D2390N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80383774:80383774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14168T>C
AA Mutation p.Val4723Ala(p.V4723A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80340174:80340174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5807A>G
AA Mutation p.His1936Arg(p.H1936R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80380971:80380971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13781C>T
AA Mutation p.Ala4594Val(p.A4594V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80364461:80364461(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777402744
CDS Mutation c.11779G>A
AA Mutation p.Ala3927Thr(p.A3927T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80361754:80361754(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747799712
CDS Mutation c.11221G>A
AA Mutation p.Asp3741Asn(p.D3741N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80363765:80363765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11725G>A
AA Mutation p.Ala3909Thr(p.A3909T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80376392:80376392(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13277C>A
AA Mutation p.Ser4426Tyr(p.S4426Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80377788:80377788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148541222
CDS Mutation c.13537G>A
AA Mutation p.Val4513Met(p.V4513M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80389350:80389350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15178A>G
AA Mutation p.Thr5060Ala(p.T5060A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80288702:80288702(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.880C>A
AA Mutation p.Gln294Lys(p.Q294K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80306353:80306353(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2312T>C
AA Mutation p.Val771Ala(p.V771A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80340240:80340240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5873C>T
AA Mutation p.Ala1958Val(p.A1958V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80344981:80344981(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763594229
CDS Mutation c.6646C>T
AA Mutation p.Arg2216Trp(p.R2216W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80347747:80347747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758600643
CDS Mutation c.9412G>A
AA Mutation p.Val3138Ile(p.V3138I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80348138:80348138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9803T>C
AA Mutation p.Val3268Ala(p.V3268A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80369540:80369540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12194G>A
AA Mutation p.Cys4065Tyr(p.C4065Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80386733:80386733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14764A>C
AA Mutation p.Ser4922Arg(p.S4922R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80347025:80347025(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8690G>A
AA Mutation p.Gly2897Asp(p.G2897D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80373118:80373118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12895G>A
AA Mutation p.Gly4299Ser(p.G4299S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80313079:80313079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148610110
CDS Mutation c.2723C>T
AA Mutation p.Ala908Val(p.A908V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80346703:80346703(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8368G>A
AA Mutation p.Ala2790Thr(p.A2790T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80383695:80383695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14089C>T
AA Mutation p.Pro4697Ser(p.P4697S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80344684:80344684(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774827247
CDS Mutation c.6349C>T
AA Mutation p.Arg2117Cys(p.R2117C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80291788:80291788(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1432C>T
AA Mutation p.Arg478Cys(p.R478C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80346314:80346314(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748937258
CDS Mutation c.7979C>T
AA Mutation p.Ala2660Val(p.A2660V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80347021:80347021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202116232
CDS Mutation c.8686C>T
AA Mutation p.Arg2896Trp(p.R2896W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80369650:80369650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768906078
CDS Mutation c.12304C>T
AA Mutation p.Arg4102Cys(p.R4102C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80350365:80350365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10153A>T
AA Mutation p.Ile3385Phe(p.I3385F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80383914:80383914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14308C>A
AA Mutation p.His4770Asn(p.H4770N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80298499:80298499(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757553323
CDS Mutation c.2191C>T
AA Mutation p.Arg731Trp(p.R731W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80348195:80348195(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9860A>G
AA Mutation p.Tyr3287Cys(p.Y3287C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80343276:80343276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376351745
CDS Mutation c.6134C>T
AA Mutation p.Ala2045Val(p.A2045V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80363630:80363630(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756005463
CDS Mutation c.11590A>G
AA Mutation p.Met3864Val(p.M3864V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80373093:80373093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12870G>C
AA Mutation p.Glu4290Asp(p.E4290D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80306317:80306317(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755306581
CDS Mutation c.2276G>A
AA Mutation p.Arg759Gln(p.R759Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80343875:80343875(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6202G>C
AA Mutation p.Val2068Leu(p.V2068L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80364503:80364503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147900479
CDS Mutation c.11821G>A
AA Mutation p.Val3941Ile(p.V3941I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000582970
Start 80309169:80309169(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2653G>A
AA Mutation p.Val885Met(p.V885M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80374465:80374465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61743307
CDS Mutation c.12950G>A
AA Mutation p.Arg4317Gln(p.R4317Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80309036:80309036(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2520G>T
AA Mutation p.Leu840Phe(p.L840F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80390171:80390171(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367820011
CDS Mutation c.15445G>A
AA Mutation p.Glu5149Lys(p.E5149K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80354067:80354067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10627G>A
AA Mutation p.Ala3543Thr(p.A3543T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80294836:80294836(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373877122
CDS Mutation c.1588G>A
AA Mutation p.Ala530Thr(p.A530T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80363181:80363181(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11435C>A
AA Mutation p.Pro3812Gln(p.P3812Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80386811:80386811(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375652626
CDS Mutation c.14842G>A
AA Mutation p.Val4948Met(p.V4948M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80353586:80353586(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10498G>A
AA Mutation p.Ala3500Thr(p.A3500T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000582970
Start 80343221:80343221(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549250924
CDS Mutation c.6079G>A
AA Mutation p.Asp2027Asn(p.D2027N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80345709:80345709(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7374C>T
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80344881:80344881(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763128869
CDS Mutation c.6546G>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80345691:80345691(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138032722
CDS Mutation c.7356C>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80352995:80352995(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10359T>C
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80386822:80386822(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs570625378
CDS Mutation c.14853C>T
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80372640:80372640(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370699905
CDS Mutation c.12657C>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80288021:80288021(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.468G>A
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80376378:80376378(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529614263
CDS Mutation c.13263G>A
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80345526:80345526(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7191C>A
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80385056:80385056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14340G>T
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80372649:80372649(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141681070
CDS Mutation c.12666G>A
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80347986:80347986(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9651C>T
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80347728:80347728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764628653
CDS Mutation c.9393C>T
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80371886:80371886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12438A>G
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80389831:80389831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15199T>C
Mutation Classification Silent
Feature Type Transcript
ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000582970
Start 80346822:80346822(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8487G>A
Mutation Classification Silent
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80340219:80340219(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5857delC
AA Mutation p.Gln1953ArgfsTer50(p.Q1953Rfs*50)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80346956:80346956(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8626delC
AA Mutation p.His2876ThrfsTer19(p.H2876Tfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80350339:80350339(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10131delT
AA Mutation p.Gln3378ArgfsTer22(p.Q3378Rfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80295693:80295693(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1897delA
AA Mutation p.Ile633LeufsTer5(p.I633Lfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80289798:80289798(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs775429031
CDS Mutation c.1079delA
AA Mutation p.Asn360ThrfsTer9(p.N360Tfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000582970
Start 80288068:80288069(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.520dupC
AA Mutation p.Leu174ProfsTer16(p.L174Pfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 84
Mutation Consequence splice_donor_variant
Transcription ID ENST00000582970
Start 80306470:80306470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2427+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
ID 85
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000582970
Start 80344676:80344676(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6343-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
ID 86
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000582970
Start 80313011:80313011(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2656-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 87
Mutation Consequence splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000582970
Start 80388606:80388613(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.14923-5_14925delTTTAGGGA
Mutation Classification Splice_Site
Feature Type Transcript
ID 88
Mutation Consequence splice_donor_variant
Transcription ID ENST00000582970
Start 80386432:80386432(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14720+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 89
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000582970
Start 80372974:80372974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12752-1G>C
Mutation Classification Splice_Site
Feature Type Transcript