Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63972440T>ACA400640028SCN4Ac.304A>T (p.Ile102Phe)
17g.63972440T>CCA400640029SCN4Ac.304A>G (p.Ile102Val)
ClinVar gnomAD v4
17g.63972440T>GCA400640030SCN4Ac.304A>C (p.Ile102Leu)
17g.63972441G>ACA501349284SCN4Ac.303C>T (p.Ala101=)
17g.63972441G>CCA501349285SCN4Ac.303C>G (p.Ala101=)
17g.63972441G>TCA501349286SCN4Ac.303C>A (p.Ala101=)
17g.63972442G>ACA400640031SCN4Ac.302C>T (p.Ala101Val)
17g.63972442G>CCA400640032SCN4Ac.302C>G (p.Ala101Gly)
17g.63972442G>TCA400640033SCN4Ac.302C>A (p.Ala101Asp)
17g.63972443C>ACA400640034SCN4Ac.301G>T (p.Ala101Ser)
17g.63972443C=CA2270175843SCN4Ac.301G= (p.Ala101=)
17g.63972443C>GCA400640035SCN4Ac.301G>C (p.Ala101Pro)
17g.63972443C>TCA8710207SCN4Ac.301G>A (p.Ala101Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972444C>ACA400640036SCN4Ac.300G>T (p.Lys100Asn)
17g.63972444C=CA2270175844SCN4Ac.300G= (p.Lys100=)
17g.63972444C>GCA400640037SCN4Ac.300G>C (p.Lys100Asn)
17g.63972444C>TCA501348974SCN4Ac.300G>A (p.Lys100=)
dbSNP gnomAD v3 gnomAD v4
17g.63972445T>ACA400640038SCN4Ac.299A>T (p.Lys100Met)
17g.63972445T>CCA400640039SCN4Ac.299A>G (p.Lys100Arg)
17g.63972445T>GCA400640040SCN4Ac.299A>C (p.Lys100Thr)
17g.63972446T>ACA400640041SCN4Ac.298A>T (p.Lys100Ter)
dbSNP
17g.63972446T>CCA400640042SCN4Ac.298A>G (p.Lys100Glu)
17g.63972446T>GCA400640043SCN4Ac.298A>C (p.Lys100Gln)
17g.63972446T=CA2270175845SCN4Ac.298A= (p.Lys100=)
17g.63972447G>ACA501348977SCN4Ac.297C>T (p.Gly99=)
17g.63972447G>CCA501348978SCN4Ac.297C>G (p.Gly99=)
17g.63972447G>TCA501348979SCN4Ac.297C>A (p.Gly99=)
17g.63972448C>ACA400640044SCN4Ac.296G>T (p.Gly99Val)
ClinVar dbSNP gnomAD v4
17g.63972448C>GCA400640045SCN4Ac.296G>C (p.Gly99Ala)
17g.63972448C>TCA400640046SCN4Ac.296G>A (p.Gly99Asp)
17g.63972449C>ACA400640048SCN4Ac.295G>T (p.Gly99Cys)
dbSNP
17g.63972449C=CA2270175846SCN4Ac.295G= (p.Gly99=)
17g.63972449C>GCA400640049SCN4Ac.295G>C (p.Gly99Arg)
17g.63972449C>TCA400640047SCN4Ac.295G>A (p.Gly99Ser)
gnomAD v4 COSMIC
17g.63972450C>ACA400640051SCN4Ac.294G>T (p.Lys98Asn)
17g.63972450C=CA2270175847SCN4Ac.294G= (p.Lys98=)
17g.63972450C>GCA400640050SCN4Ac.294G>C (p.Lys98Asn)
dbSNP gnomAD v4
17g.63972450C>TCA501348980SCN4Ac.294G>A (p.Lys98=)
17g.63972451T>ACA400640052SCN4Ac.293A>T (p.Lys98Met)
17g.63972451T>CCA400640053SCN4Ac.293A>G (p.Lys98Arg)
17g.63972451T>GCA400640054SCN4Ac.293A>C (p.Lys98Thr)
17g.63972452T>ACA400640055SCN4Ac.292A>T (p.Lys98Ter)
dbSNP
17g.63972452T>CCA400640056SCN4Ac.292A>G (p.Lys98Glu)
17g.63972452T>GCA400640057SCN4Ac.292A>C (p.Lys98Gln)
17g.63972452T=CA2270175848SCN4Ac.292A= (p.Lys98=)
17g.63972453G>ACA8710208SCN4Ac.291C>T (p.Asn97=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972453G>CCA400640058SCN4Ac.291C>G (p.Asn97Lys)
17g.63972453G=CA2270175849SCN4Ac.291C= (p.Asn97=)
17g.63972453G>TCA400640059SCN4Ac.291C>A (p.Asn97Lys)
17g.63972454T>ACA400640060SCN4Ac.290A>T (p.Asn97Ile)
17g.63972454T>CCA400640061SCN4Ac.290A>G (p.Asn97Ser)
gnomAD v4
17g.63972454T>GCA400640062SCN4Ac.290A>C (p.Asn97Thr)
17g.63972455T>ACA400640064SCN4Ac.289A>T (p.Asn97Tyr)
17g.63972455T>CCA8710209SCN4Ac.289A>G (p.Asn97Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972455T>GCA400640063SCN4Ac.289A>C (p.Asn97His)
17g.63972455T=CA2270175850SCN4Ac.289A= (p.Asn97=)
17g.63972456G>ACA501348981SCN4Ac.288C>T (p.Leu96=)
17g.63972456G>CCA501348982SCN4Ac.288C>G (p.Leu96=)
17g.63972456G>TCA501348983SCN4Ac.288C>A (p.Leu96=)
17g.63972457A=CA2270175851SCN4Ac.287T= (p.Leu96=)
17g.63972457A>CCA400640065SCN4Ac.287T>G (p.Leu96Arg)
dbSNP gnomAD v3 gnomAD v4
17g.63972457A>GCA400640066SCN4Ac.287T>C (p.Leu96Pro)
17g.63972457A>TCA400640067SCN4Ac.287T>A (p.Leu96His)
17g.63972458G>ACA400640068SCN4Ac.286C>T (p.Leu96Phe)
gnomAD v4
17g.63972458G>CCA400640069SCN4Ac.286C>G (p.Leu96Val)
17g.63972458G>TCA400640070SCN4Ac.286C>A (p.Leu96Ile)
17g.63972459T>ACA501348984SCN4Ac.285A>T (p.Val95=)
17g.63972459T>CCA501348985SCN4Ac.285A>G (p.Val95=)
dbSNP gnomAD v3 gnomAD v4
17g.63972459T>GCA501348986SCN4Ac.285A>C (p.Val95=)
17g.63972459T=CA2270175852SCN4Ac.285A= (p.Val95=)
17g.63972460A>CCA400640071SCN4Ac.284T>G (p.Val95Gly)
17g.63972460A>GCA400640072SCN4Ac.284T>C (p.Val95Ala)
17g.63972460A>TCA400640073SCN4Ac.284T>A (p.Val95Glu)
17g.63972461C>ACA8710210SCN4Ac.283G>T (p.Val95Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972461C=CA2270175853SCN4Ac.283G= (p.Val95=)
17g.63972461C>GCA400640074SCN4Ac.283G>C (p.Val95Leu)
17g.63972461C>TCA292972857SCN4Ac.283G>A (p.Val95Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.63972462G>ACA8710211SCN4Ac.282C>T (p.Ile94=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.63972462G>CCA400640075SCN4Ac.282C>G (p.Ile94Met)
dbSNP
17g.63972462G=CA2270175854SCN4Ac.282C= (p.Ile94=)
17g.63972462G>TCA501348987SCN4Ac.282C>A (p.Ile94=)
gnomAD v4
17g.63972463A>CCA400640076SCN4Ac.281T>G (p.Ile94Ser)
17g.63972463A>GCA400640077SCN4Ac.281T>C (p.Ile94Thr)
17g.63972463A>TCA400640078SCN4Ac.281T>A (p.Ile94Asn)
17g.63972464T>ACA400640079SCN4Ac.280A>T (p.Ile94Phe)
17g.63972464T>CCA400640080SCN4Ac.280A>G (p.Ile94Val)
gnomAD v4
17g.63972464T>GCA400640081SCN4Ac.280A>C (p.Ile94Leu)
17g.63972465G>ACA8710212SCN4Ac.279C>T (p.Phe93=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972465G>CCA400640083SCN4Ac.279C>G (p.Phe93Leu)
ClinVar dbSNP
17g.63972465G=CA2270175855SCN4Ac.279C= (p.Phe93=)
17g.63972465G>TCA400640082SCN4Ac.279C>A (p.Phe93Leu)
17g.63972466A>CCA400640084SCN4Ac.278T>G (p.Phe93Cys)
17g.63972466A>GCA400640085SCN4Ac.278T>C (p.Phe93Ser)
17g.63972466A>TCA400640086SCN4Ac.278T>A (p.Phe93Tyr)
17g.63972467A>CCA400640087SCN4Ac.277T>G (p.Phe93Val)
17g.63972467A>GCA400640088SCN4Ac.277T>C (p.Phe93Leu)
17g.63972467A>TCA400640089SCN4Ac.277T>A (p.Phe93Ile)
17g.63972468G>ACA501348988SCN4Ac.276C>T (p.Thr92=)
17g.63972468G>CCA501348989SCN4Ac.276C>G (p.Thr92=)
17g.63972468G>TCA501348990SCN4Ac.276C>A (p.Thr92=)
17g.63972469G>ACA400640090SCN4Ac.275C>T (p.Thr92Ile)
COSMIC
17g.63972469G>CCA400640092SCN4Ac.275C>G (p.Thr92Ser)
17g.63972469G=CA2270175856SCN4Ac.275C= (p.Thr92=)
17g.63972469G>TCA400640091SCN4Ac.275C>A (p.Thr92Asn)
dbSNP gnomAD v2 gnomAD v4
17g.63972470T>ACA400640093SCN4Ac.274A>T (p.Thr92Ser)
17g.63972470T>CCA400640094SCN4Ac.274A>G (p.Thr92Ala)
17g.63972470T>GCA400640095SCN4Ac.274A>C (p.Thr92Pro)
17g.63972471C>ACA400640096SCN4Ac.274-1G>T (n.274-1G>T)
17g.63972471C>GCA400640097SCN4Ac.274-1G>C (n.274-1G>C)
17g.63972471C>TCA400640098SCN4Ac.274-1G>A (n.274-1G>A)
17g.63972473_63972570delCA627150415SCN4Ac.273+1_274-1del
gnomAD v2 gnomAD v3 gnomAD v4
17g.63972472T>ACA400640099SCN4Ac.274-2A>T (n.274-2A>T)
17g.63972472T>CCA400640100SCN4Ac.274-2A>G (n.274-2A>G)
17g.63972472T>GCA400640101SCN4Ac.274-2A>C (n.274-2A>C)
17g.63972474A>CCA2576356264SCN4Ac.274-4T>G (n.274-4T>G)
gnomAD v4
17g.63972475G>ACA2270175858SCN4Ac.274-5C>T (n.274-5C>T)
dbSNP
17g.63972475G=CA2270175857SCN4Ac.274-5C= (n.274-5C=)
17g.63972475G>TCA2639312491SCN4Ac.274-5C>A (n.274-5C>A)
gnomAD v4
17g.63972476G>ACA2270175860SCN4Ac.274-6C>T (n.274-6C>T)
dbSNP
17g.63972476G=CA2270175859SCN4Ac.274-6C= (n.274-6C=)
17g.63972477T>GCA2270175862SCN4Ac.274-7A>C (n.274-7A>C)
dbSNP
17g.63972477T=CA2270175861SCN4Ac.274-7A= (n.274-7A=)
17g.63972478G>ACA2576356265SCN4Ac.274-8C>T (n.274-8C>T)
17g.63972480G>ACA645591547SCN4Ac.274-10C>T (n.274-10C>T)
COSMIC
17g.63972485_63972486delCA2639312496SCN4Ac.274-11_274-10del (n.274-11_274-10del)
gnomAD v4
17g.63972482G>ACA774008759SCN4Ac.274-12C>T (n.274-12C>T)
dbSNP
17g.63972482G=CA2270175863SCN4Ac.274-12C= (n.274-12C=)
17g.63972484G>ACA627150416SCN4Ac.274-14C>T (n.274-14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63972484G=CA2270175864SCN4Ac.274-14C= (n.274-14C=)
17g.63972486G>ACA774008762SCN4Ac.274-16C>T (n.274-16C>T)
dbSNP gnomAD v3 gnomAD v4
17g.63972486G=CA2270175865SCN4Ac.274-16C= (n.274-16C=)
17g.63972487G>ACA8710213SCN4Ac.274-17C>T (n.274-17C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972487G=CA2270175866SCN4Ac.274-17C= (n.274-17C=)
17g.63972487G>TCA2545461930SCN4Ac.274-17C>A (n.274-17C>A)
17g.63972488_63972490delinsCTGCA2270175867SCN4Ac.274-20_274-18delinsCAG (n.274-20_274-18delinsCAG)
17g.63972491_63972492delCA627150419SCN4Ac.274-20_274-19del (n.274-20_274-19del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63972490G>ACA8710214SCN4Ac.274-20C>T (n.274-20C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972490G>CCA627150420SCN4Ac.274-20C>G (n.274-20C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63972490G=CA2270175868SCN4Ac.274-20C= (n.274-20C=)
17g.63972491T>GCA2270175870SCN4Ac.274-21A>C (n.274-21A>C)
dbSNP
17g.63972491T=CA2270175869SCN4Ac.274-21A= (n.274-21A=)
17g.63972494G>ACA8710215SCN4Ac.274-24C>T (n.274-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972494G=CA2270175871SCN4Ac.274-24C= (n.274-24C=)
17g.63972498C>ACA2639312503SCN4Ac.274-28G>T (n.274-28G>T)
gnomAD v4
17g.63972499A=CA2270175872SCN4Ac.274-29T= (n.274-29T=)
17g.63972499A>CCA2576356266SCN4Ac.274-29T>G (n.274-29T>G)
17g.63972499A>GCA2270175873SCN4Ac.274-29T>C (n.274-29T>C)
dbSNP
17g.63972500G>CCA8710216SCN4Ac.274-30C>G (n.274-30C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972500G=CA2270175874SCN4Ac.274-30C= (n.274-30C=)
17g.63972501G>ACA2576356267SCN4Ac.274-31C>T (n.274-31C>T)
gnomAD v4
17g.63972501_63972505delinsGGACACA2270175875SCN4Ac.274-35_274-31delinsTGTCC (n.274-35_274-31delinsTGTCC)
17g.63972502G>ACA2639312517SCN4Ac.274-32C>T (n.274-32C>T)
gnomAD v4
17g.63972511_63972514dupCA2270175876SCN4Ac.274-35_274-32dup (n.274-35_274-32dup)
dbSNP gnomAD v4
17g.63972507_63972514dupCA2270175877SCN4Ac.274-39_274-32dup (n.274-39_274-32dup)
dbSNP gnomAD v4
17g.63972511_63972514delCA8710217SCN4Ac.274-35_274-32del (n.274-35_274-32del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972503A=CA2270175878SCN4Ac.274-33T= (n.274-33T=)
17g.63972503_63972504insGAGACAGACAGGCA8710219SCN4Ac.274-34_274-33insCCTGTCTGTCTC (n.274-34_274-33insCCTGTCTGTCTC)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972504C>GCA2639312541SCN4Ac.274-34G>C (n.274-34G>C)
gnomAD v4
17g.63972512_63972523dupCA8710218SCN4Ac.274-45_274-34dup (n.274-45_274-34dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972505A=CA2270175879SCN4Ac.274-35T= (n.274-35T=)
17g.63972505A>GCA2270175880SCN4Ac.274-35T>C (n.274-35T>C)
dbSNP
17g.63972506G>ACA8710220SCN4Ac.274-36C>T (n.274-36C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972506G>CCA2270175882SCN4Ac.274-36C>G (n.274-36C>G)
dbSNP
17g.63972506G=CA2270175881SCN4Ac.274-36C= (n.274-36C=)
17g.63972507A>GCA2576356268SCN4Ac.274-37T>C (n.274-37T>C)
gnomAD v4
17g.63972508C=CA2270175883SCN4Ac.274-38G= (n.274-38G=)
17g.63972508C>GCA8710221SCN4Ac.274-38G>C (n.274-38G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972508C>TCA8710222SCN4Ac.274-38G>A (n.274-38G>A)
dbSNP ExAC gnomAD v2
17g.63972510G>CCA2810128108SCN4Ac.274-40C>G (n.274-40C>G)
17g.63972510G=CA2270175884SCN4Ac.274-40C= (n.274-40C=)
17g.63972510G>TCA627150423SCN4Ac.274-40C>A (n.274-40C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63972511A=CA2270175885SCN4Ac.274-41T= (n.274-41T=)
17g.63972511A>GCA627150424SCN4Ac.274-41T>C (n.274-41T>C)
dbSNP gnomAD v2 gnomAD v4
17g.63972512C>GCA2519853072SCN4Ac.274-42G>C (n.274-42G>C)
17g.63972513_63972532delinsAGGCAGACAGATGGATGGATCA2270175886SCN4Ac.273+37_274-43delinsATCCATCCATCTGTCTGCCT (n.273+37_274-43delinsATCCATCCATCTGTCTGCCT)
17g.63972524_63972542dupCA2639312574SCN4Ac.273+37_274-44dup (n.273+37_274-44dup)
gnomAD v4
17g.63972524_63972542delCA8710223SCN4Ac.273+37_274-44del (n.273+37_274-44del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972515G=CA2270175887SCN4Ac.274-45C= (n.274-45C=)
17g.63972515G>TCA8710224SCN4Ac.274-45C>A (n.274-45C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972516C>ACA2576356269SCN4Ac.274-46G>T (n.274-46G>T)
17g.63972520_63972523dupCA2639312580SCN4Ac.274-49_274-46dup (n.274-49_274-46dup)
gnomAD v4
17g.63972517A>TCA2576356270SCN4Ac.274-47T>A (n.274-47T>A)
17g.63972519A>GCA2576356271SCN4Ac.274-49T>C (n.274-49T>C)
17g.63972520C>TCA2810128109SCN4Ac.274-50G>A (n.274-50G>A)
17g.63972520_63972524delinsCAGATCA2270175888SCN4Ac.273+45_274-50delinsATCTG (n.273+45_274-50delinsATCTG)
17g.63972521_63972524delCA8710225SCN4Ac.273+45_273+48del (n.273+45_273+48del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972531_63972534dupCA2639312589SCN4Ac.273+44_273+47dup (n.273+44_273+47dup)
gnomAD v4
17g.63972523A=CA2270175889SCN4Ac.273+46T= (n.273+46T=)
17g.63972523A>GCA985438398SCN4Ac.273+46T>C (n.273+46T>C)
dbSNP gnomAD v3 gnomAD v4
17g.63972524T>CCA2270175891SCN4Ac.273+45A>G (n.273+45A>G)
dbSNP gnomAD v3 gnomAD v4
17g.63972524T=CA2270175890SCN4Ac.273+45A= (n.273+45A=)
17g.63972525G>ACA2639312595SCN4Ac.273+44C>T (n.273+44C>T)
gnomAD v4
17g.63972525_63972543dupCA2639312591SCN4Ac.273+26_273+44dup (n.273+26_273+44dup)
gnomAD v4
17g.63972526G=CA2270175892SCN4Ac.273+43C= (n.273+43C=)
17g.63972526G>TCA8710226SCN4Ac.273+43C>A (n.273+43C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972527A=CA2270175893SCN4Ac.273+42T= (n.273+42T=)
17g.63972527A>CCA2639312604SCN4Ac.273+42T>G (n.273+42T>G)
gnomAD v4
17g.63972527A>GCA8710227SCN4Ac.273+42T>C (n.273+42T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63972527A>TCA627150425SCN4Ac.273+42T>A (n.273+42T>A)
dbSNP gnomAD v2 gnomAD v4
17g.63972528T>ACA8710228SCN4Ac.273+41A>T (n.273+41A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63972528T=CA2270175894SCN4Ac.273+41A= (n.273+41A=)
17g.63972529G>ACA2639312612SCN4Ac.273+40C>T (n.273+40C>T)
gnomAD v4
17g.63972530G=CA2270175895SCN4Ac.273+39C= (n.273+39C=)
17g.63972530G>TCA627150426SCN4Ac.273+39C>A (n.273+39C>A)
dbSNP gnomAD v2 gnomAD v4
17g.63972533G>ACA2270175897SCN4Ac.273+36C>T (n.273+36C>T)
dbSNP
17g.63972533G=CA2270175896SCN4Ac.273+36C= (n.273+36C=)
17g.63972534_63972537dupCA2639312616SCN4Ac.273+33_273+36dup (n.273+33_273+36dup)
gnomAD v4
17g.63972534G>ACA2810128110SCN4Ac.273+35C>T (n.273+35C>T)
17g.63972534_63972538delinsGCAGACA2270175898SCN4Ac.273+31_273+35delinsTCTGC (n.273+31_273+35delinsTCTGC)
17g.63972535C=CA2270175899SCN4Ac.273+34G= (n.273+34G=)
17g.63972535C>GCA2270175900SCN4Ac.273+34G>C (n.273+34G>C)
dbSNP
17g.63972543_63972546dupCA627150427SCN4Ac.273+31_273+34dup (n.273+31_273+34dup)
dbSNP gnomAD v2 gnomAD v4
17g.63972543_63972546delCA919876414SCN4Ac.273+31_273+34del (n.273+31_273+34del)
dbSNP gnomAD v4
17g.63972539C>GCA2810128111SCN4Ac.273+30G>C (n.273+30G>C)
17g.63972540A>TCA2639312625SCN4Ac.273+29T>A (n.273+29T>A)
gnomAD v4

Number of alleles fetched