Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94030913_94030918delCA2744616664ABCA4c.4253+79_4253+84del (n.4253+79_4253+84del)
c.629+79_629+84del (n.629+79_629+84del)
1g.94030917G>ACA2646649478ABCA4c.4253+79C>T (n.4253+79C>T)
c.629+79C>T (n.629+79C>T)
 gnomAD v4
1g.94030917G>TCA2646649479ABCA4c.4253+79C>A (n.4253+79C>A)
c.629+79C>A (n.629+79C>A)
 gnomAD v4
1g.94030918G>ACA2646649481ABCA4c.4253+78C>T (n.4253+78C>T)
c.629+78C>T (n.629+78C>T)
 gnomAD v4
1g.94030918G>CCA2646649483ABCA4c.4253+78C>G (n.4253+78C>G)
c.629+78C>G (n.629+78C>G)
 gnomAD v4
1g.94030918G=CA1181415114ABCA4c.4253+78C= (n.4253+78C=)
c.629+78C= (n.629+78C=)
1g.94030918G>TCA1181415115ABCA4c.4253+78C>A (n.4253+78C>A)
c.629+78C>A (n.629+78C>A)
 dbSNP
1g.94030922G>CCA2646649485ABCA4c.4253+74C>G (n.4253+74C>G)
c.629+74C>G (n.629+74C>G)
 gnomAD v4
1g.94030922G>TCA2646649486ABCA4c.4253+74C>A (n.4253+74C>A)
c.629+74C>A (n.629+74C>A)
 gnomAD v4
1g.94030923G>ACA2646649487ABCA4c.4253+73C>T (n.4253+73C>T)
c.629+73C>T (n.629+73C>T)
 gnomAD v4
1g.94030924G>ACA1004558382ABCA4c.4253+72C>T (n.4253+72C>T)
c.629+72C>T (n.629+72C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94030924G=CA1181415116ABCA4c.4253+72C= (n.4253+72C=)
c.629+72C= (n.629+72C=)
1g.94030924G>TCA2646649494ABCA4c.4253+72C>A (n.4253+72C>A)
c.629+72C>A (n.629+72C>A)
 gnomAD v4
1g.94030925C=CA1181415117ABCA4c.4253+71G= (n.4253+71G=)
c.629+71G= (n.629+71G=)
1g.94030925C>TCA1004558391ABCA4c.4253+71G>A (n.4253+71G>A)
c.629+71G>A (n.629+71G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94030927C>ACA645706243ABCA4c.4253+69G>T (n.4253+69G>T)
c.629+69G>T (n.629+69G>T)
 COSMIC
1g.94030930C>ACA740494916ABCA4c.4253+66G>T (n.4253+66G>T)
c.629+66G>T (n.629+66G>T)
 dbSNP
1g.94030930C=CA1181415118ABCA4c.4253+66G= (n.4253+66G=)
c.629+66G= (n.629+66G=)
1g.94030933A=CA1181415119ABCA4c.4253+63T= (n.4253+63T=)
c.629+63T= (n.629+63T=)
1g.94030933A>CCA740494918ABCA4c.4253+63T>G (n.4253+63T>G)
c.629+63T>G (n.629+63T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.94030934G>ACA26854816ABCA4c.4253+62C>T (n.4253+62C>T)
c.629+62C>T (n.629+62C>T)
 dbSNP
1g.94030934G=CA1141281921ABCA4c.4253+62C= (n.4253+62C=)
c.629+62C= (n.629+62C=)
1g.94030934G>TCA740494921ABCA4c.4253+62C>A (n.4253+62C>A)
c.629+62C>A (n.629+62C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94030935C>TCA2574438398ABCA4c.4253+61G>A (n.4253+61G>A)
c.629+61G>A (n.629+61G>A)
1g.94030936A>GCA2646649500ABCA4c.4253+60T>C (n.4253+60T>C)
c.629+60T>C (n.629+60T>C)
 gnomAD v4
1g.94030937G>TCA2646649502ABCA4c.4253+59C>A (n.4253+59C>A)
c.629+59C>A (n.629+59C>A)
 gnomAD v4
1g.94030938C>TCA2646649503ABCA4c.4253+58G>A (n.4253+58G>A)
c.629+58G>A (n.629+58G>A)
 gnomAD v4
1g.94030940T>CCA2646649504ABCA4c.4253+56A>G (n.4253+56A>G)
c.629+56A>G (n.629+56A>G)
 gnomAD v4
1g.94030940T>GCA1181415121ABCA4c.4253+56A>C (n.4253+56A>C)
c.629+56A>C (n.629+56A>C)
 dbSNP
1g.94030940T=CA1181415120ABCA4c.4253+56A= (n.4253+56A=)
c.629+56A= (n.629+56A=)
1g.94030941G>ACA740494923ABCA4c.4253+55C>T (n.4253+55C>T)
c.629+55C>T (n.629+55C>T)
 dbSNP gnomAD v4
1g.94030941G=CA1181415122ABCA4c.4253+55C= (n.4253+55C=)
c.629+55C= (n.629+55C=)
1g.94030943G>ACA740494926ABCA4c.4253+53C>T (n.4253+53C>T)
c.629+53C>T (n.629+53C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94030943G=CA1181415123ABCA4c.4253+53C= (n.4253+53C=)
c.629+53C= (n.629+53C=)
1g.94030943G>TCA2574438399ABCA4c.4253+53C>A (n.4253+53C>A)
c.629+53C>A (n.629+53C>A)
 gnomAD v4
1g.94030944A>TCA2646649509ABCA4c.4253+52T>A (n.4253+52T>A)
c.629+52T>A (n.629+52T>A)
 gnomAD v4
1g.94030945C=CA1181415124ABCA4c.4253+51G= (n.4253+51G=)
c.629+51G= (n.629+51G=)
1g.94030945C>GCA2646649510ABCA4c.4253+51G>C (n.4253+51G>C)
c.629+51G>C (n.629+51G>C)
 gnomAD v4
1g.94030945C>TCA957671ABCA4c.4253+51G>A (n.4253+51G>A)
c.629+51G>A (n.629+51G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030946C=CA1181415125ABCA4c.4253+50G= (n.4253+50G=)
c.629+50G= (n.629+50G=)
1g.94030946C>TCA1181415126ABCA4c.4253+50G>A (n.4253+50G>A)
c.629+50G>A (n.629+50G>A)
 dbSNP gnomAD v4
1g.94030949G>CCA957672ABCA4c.4253+47C>G (n.4253+47C>G)
c.629+47C>G (n.629+47C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030949G=CA1142702714ABCA4c.4253+47C= (n.4253+47C=)
c.629+47C= (n.629+47C=)
1g.94030950G>ACA957673ABCA4c.4253+46C>T (n.4253+46C>T)
c.629+46C>T (n.629+46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030950G=CA1181415127ABCA4c.4253+46C= (n.4253+46C=)
c.629+46C= (n.629+46C=)
1g.94030950G>TCA524384003ABCA4c.4253+46C>A (n.4253+46C>A)
c.629+46C>A (n.629+46C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030952G>ACA2574438410ABCA4c.4253+44C>T (n.4253+44C>T)
c.629+44C>T (n.629+44C>T)
 gnomAD v4
1g.94030952G>CCA957674ABCA4c.4253+44C>G (n.4253+44C>G)
c.629+44C>G (n.629+44C>G)
 dbSNP ExAC gnomAD v2
1g.94030952G=CA1181415128ABCA4c.4253+44C= (n.4253+44C=)
c.629+44C= (n.629+44C=)
1g.94030952_94030953delinsGCCA1181415129ABCA4c.4253+43_4253+44delinsGC (n.4253+43_4253+44delinsGC)
c.629+43_629+44delinsGC (n.629+43_629+44delinsGC)
1g.94030953C>ACA2646649517ABCA4c.4253+43G>T (n.4253+43G>T)
c.629+43G>T (n.629+43G>T)
 gnomAD v4
1g.94030953C=CA1140726167ABCA4c.4253+43G= (n.4253+43G=)
c.629+43G= (n.629+43G=)
1g.94030953C>TCA227172ABCA4c.4253+43G>A (n.4253+43G>A)
c.629+43G>A (n.629+43G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030956delCA1181415130ABCA4c.4253+43del (n.4253+43del)
c.629+43del (n.629+43del)
 dbSNP gnomAD v4
1g.94030954C=CA1181415131ABCA4c.4253+42G= (n.4253+42G=)
c.629+42G= (n.629+42G=)
1g.94030954C>TCA1181415132ABCA4c.4253+42G>A (n.4253+42G>A)
c.629+42G>A (n.629+42G>A)
 dbSNP
1g.94030956C=CA1143647763ABCA4c.4253+40G= (n.4253+40G=)
c.629+40G= (n.629+40G=)
1g.94030956C>GCA26854823ABCA4c.4253+40G>C (n.4253+40G>C)
c.629+40G>C (n.629+40G>C)
 dbSNP
1g.94030956C>TCA524384004ABCA4c.4253+40G>A (n.4253+40G>A)
c.629+40G>A (n.629+40G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94030960C=CA1181415133ABCA4c.4253+36G= (n.4253+36G=)
c.629+36G= (n.629+36G=)
1g.94030960C>TCA957675ABCA4c.4253+36G>A (n.4253+36G>A)
c.629+36G>A (n.629+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030961C>ACA2646649521ABCA4c.4253+35G>T (n.4253+35G>T)
c.629+35G>T (n.629+35G>T)
 gnomAD v4
1g.94030962C=CA1181415134ABCA4c.4253+34G= (n.4253+34G=)
c.629+34G= (n.629+34G=)
1g.94030962C>TCA524384005ABCA4c.4253+34G>A (n.4253+34G>A)
c.629+34G>A (n.629+34G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.94030963A>GCA2574438419ABCA4c.4253+33T>C (n.4253+33T>C)
c.629+33T>C (n.629+33T>C)
1g.94030965A>CCA2646649523ABCA4c.4253+31T>G (n.4253+31T>G)
c.629+31T>G (n.629+31T>G)
 gnomAD v4
1g.94030966G>ACA957676ABCA4c.4253+30C>T (n.4253+30C>T)
c.629+30C>T (n.629+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030966G=CA1181415135ABCA4c.4253+30C= (n.4253+30C=)
c.629+30C= (n.629+30C=)
1g.94030967A=CA1181415136ABCA4c.4253+29T= (n.4253+29T=)
c.629+29T= (n.629+29T=)
1g.94030967A>GCA1181415137ABCA4c.4253+29T>C (n.4253+29T>C)
c.629+29T>C (n.629+29T>C)
 dbSNP
1g.94030968G>ACA2744616665ABCA4c.4253+28C>T (n.4253+28C>T)
c.629+28C>T (n.629+28C>T)
1g.94030968G>TCA645706244ABCA4c.4253+28C>A (n.4253+28C>A)
c.629+28C>A (n.629+28C>A)
 COSMIC
1g.94030969G>ACA2646649527ABCA4c.4253+27C>T (n.4253+27C>T)
c.629+27C>T (n.629+27C>T)
 gnomAD v4
1g.94030969G>CCA524384006ABCA4c.4253+27C>G (n.4253+27C>G)
c.629+27C>G (n.629+27C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.94030969G=CA1181415138ABCA4c.4253+27C= (n.4253+27C=)
c.629+27C= (n.629+27C=)
1g.94030969G>TCA2646649528ABCA4c.4253+27C>A (n.4253+27C>A)
c.629+27C>A (n.629+27C>A)
 gnomAD v4
1g.94030970A>TCA2646649532ABCA4c.4253+26T>A (n.4253+26T>A)
c.629+26T>A (n.629+26T>A)
 gnomAD v4
1g.94030971G>ACA1004558412ABCA4c.4253+25C>T (n.4253+25C>T)
c.629+25C>T (n.629+25C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94030971G=CA1181415139ABCA4c.4253+25C= (n.4253+25C=)
c.629+25C= (n.629+25C=)
1g.94030973A=CA1181415140ABCA4c.4253+23T= (n.4253+23T=)
c.629+23T= (n.629+23T=)
1g.94030973A>GCA524384007ABCA4c.4253+23T>C (n.4253+23T>C)
c.629+23T>C (n.629+23T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.94030973A>TCA645706245ABCA4c.4253+23T>A (n.4253+23T>A)
c.629+23T>A (n.629+23T>A)
 COSMIC
1g.94030975G>ACA957677ABCA4c.4253+21C>T (n.4253+21C>T)
c.629+21C>T (n.629+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030975G=CA1181415141ABCA4c.4253+21C= (n.4253+21C=)
c.629+21C= (n.629+21C=)
1g.94030978G>ACA26854833ABCA4c.4253+18C>T (n.4253+18C>T)
c.629+18C>T (n.629+18C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.94030978G=CA1143897744ABCA4c.4253+18C= (n.4253+18C=)
c.629+18C= (n.629+18C=)
1g.94030979_94030980delinsACCA1181415142ABCA4c.4253+16_4253+17delinsGT (n.4253+16_4253+17delinsGT)
c.629+16_629+17delinsGT (n.629+16_629+17delinsGT)
1g.94030980C>ACA2646649544ABCA4c.4253+16G>T (n.4253+16G>T)
c.629+16G>T (n.629+16G>T)
 gnomAD v4
1g.94030980C=CA1181415144ABCA4c.4253+16G= (n.4253+16G=)
c.629+16G= (n.629+16G=)
1g.94030980C>TCA1181415143ABCA4c.4253+16G>A (n.4253+16G>A)
c.629+16G>A (n.629+16G>A)
 ClinVar dbSNP
1g.94030983delCA740494958ABCA4c.4253+16del (n.4253+16del)
c.629+16del (n.629+16del)
 dbSNP
1g.94030981C>ACA957678ABCA4c.4253+15G>T (n.4253+15G>T)
c.629+15G>T (n.629+15G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030981C=CA1181415145ABCA4c.4253+15G= (n.4253+15G=)
c.629+15G= (n.629+15G=)
1g.94030983C>ACA2646649552ABCA4c.4253+13G>T (n.4253+13G>T)
c.629+13G>T (n.629+13G>T)
 gnomAD v4
1g.94030983C=CA1142074274ABCA4c.4253+13G= (n.4253+13G=)
c.629+13G= (n.629+13G=)
1g.94030983C>TCA957679ABCA4c.4253+13G>A (n.4253+13G>A)
c.629+13G>A (n.629+13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030984G>ACA26854863ABCA4c.4253+12C>T (n.4253+12C>T)
c.629+12C>T (n.629+12C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94030984G=CA1181415146ABCA4c.4253+12C= (n.4253+12C=)
c.629+12C= (n.629+12C=)
1g.94030985A=CA1181415147ABCA4c.4253+11T= (n.4253+11T=)
c.629+11T= (n.629+11T=)
1g.94030985A>CCA26854865ABCA4c.4253+11T>G (n.4253+11T>G)
c.629+11T>G (n.629+11T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030985A>GCA2646649558ABCA4c.4253+11T>C (n.4253+11T>C)
c.629+11T>C (n.629+11T>C)
 ClinVar gnomAD v4
1g.94030989C=CA1143652686ABCA4c.4253+7G= (n.4253+7G=)
c.629+7G= (n.629+7G=)
1g.94030989C>TCA957680ABCA4c.4253+7G>A (n.4253+7G>A)
c.629+7G>A (n.629+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030990G>ACA957681ABCA4c.4253+6C>T (n.4253+6C>T)
c.629+6C>T (n.629+6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030990G=CA1143877018ABCA4c.4253+6C= (n.4253+6C=)
c.629+6C= (n.629+6C=)
1g.94030991C>ACA227174ABCA4c.4253+5G>T (n.4253+5G>T)
c.629+5G>T (n.629+5G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030991C=CA1140726169ABCA4c.4253+5G= (n.4253+5G=)
c.629+5G= (n.629+5G=)
1g.94030991C>TCA10602432ABCA4c.4253+5G>A (n.4253+5G>A)
c.629+5G>A (n.629+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030992G>ACA227173ABCA4c.4253+4C>T (n.4253+4C>T)
c.629+4C>T (n.629+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030992G=CA1140726170ABCA4c.4253+4C= (n.4253+4C=)
c.629+4C= (n.629+4C=)
1g.94030993C=CA1181415148ABCA4c.4253+3G= (n.4253+3G=)
c.629+3G= (n.629+3G=)
1g.94030993C>GCA2573131951ABCA4c.4253+3G>C (n.4253+3G>C)
c.629+3G>C (n.629+3G>C)
 ClinVar dbSNP
1g.94030993C>TCA1181415149ABCA4c.4253+3G>A (n.4253+3G>A)
c.629+3G>A (n.629+3G>A)
 dbSNP gnomAD v4
1g.94030994A>CCA341286009ABCA4c.4253+2T>G (n.4253+2T>G)
c.629+2T>G (n.629+2T>G)
1g.94030994A>GCA341286011ABCA4c.4253+2T>C (n.4253+2T>C)
c.629+2T>C (n.629+2T>C)
1g.94030994A>TCA341286012ABCA4c.4253+2T>A (n.4253+2T>A)
c.629+2T>A (n.629+2T>A)
 gnomAD v4
1g.94030995C>ACA227171ABCA4c.4253+1G>T (n.4253+1G>T)
c.629+1G>T (n.629+1G>T)
 ClinVar dbSNP
1g.94030995C=CA1140726171ABCA4c.4253+1G= (n.4253+1G=)
c.629+1G= (n.629+1G=)
1g.94030995C>GCA341286016ABCA4c.4253+1G>C (n.4253+1G>C)
c.629+1G>C (n.629+1G>C)
1g.94030995C>TCA341286014ABCA4c.4253+1G>A (n.4253+1G>A)
c.629+1G>A (n.629+1G>A)
 ClinVar dbSNP
1g.94030996C>ACA341286018ABCA4c.4253G>T (p.Ser1418Ile)
c.629G>T (p.Ser210Ile)
1g.94030996C>GCA341286020ABCA4c.4253G>C (p.Ser1418Thr)
c.629G>C (p.Ser210Thr)
1g.94030996C>TCA341286021ABCA4c.4253G>A (p.Ser1418Asn)
c.629G>A (p.Ser210Asn)
1g.94030997T>ACA341286023ABCA4c.4252A>T (p.Ser1418Cys)
c.628A>T (p.Ser210Cys)
1g.94030997T>CCA341286024ABCA4c.4252A>G (p.Ser1418Gly)
c.628A>G (p.Ser210Gly)
 ClinVar dbSNP
1g.94030997T>GCA341286025ABCA4c.4252A>C (p.Ser1418Arg)
c.628A>C (p.Ser210Arg)
1g.94030997_94031000delinsTGAACA1181415150ABCA4c.4249_4252delinsTTCA (p.Phe1417=)
c.625_628delinsTTCA (p.Phe209=)
1g.94030998G>ACA418825059ABCA4c.4251C>T (p.Phe1417=)
c.627C>T (p.Phe209=)
1g.94030998G>CCA341286027ABCA4c.4251C>G (p.Phe1417Leu)
c.627C>G (p.Phe209Leu)
1g.94030998G>TCA341286029ABCA4c.4251C>A (p.Phe1417Leu)
c.627C>A (p.Phe209Leu)
1g.94031002_94031004delCA645372198ABCA4c.4249_4251del (p.Phe1417del)
c.625_627del (p.Phe209del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94030999A>CCA341286031ABCA4c.4250T>G (p.Phe1417Cys)
c.626T>G (p.Phe209Cys)
1g.94030999A>GCA341286032ABCA4c.4250T>C (p.Phe1417Ser)
c.626T>C (p.Phe209Ser)
 gnomAD v4
1g.94030999A>TCA341286033ABCA4c.4250T>A (p.Phe1417Tyr)
c.626T>A (p.Phe209Tyr)
1g.94031000A=CA1181415151ABCA4c.4249T= (p.Phe1417=)
c.625T= (p.Phe209=)
1g.94031000A>CCA341286034ABCA4c.4249T>G (p.Phe1417Val)
c.625T>G (p.Phe209Val)
1g.94031000A>GCA957682ABCA4c.4249T>C (p.Phe1417Leu)
c.625T>C (p.Phe209Leu)
 dbSNP ExAC
1g.94031000A>TCA341286036ABCA4c.4249T>A (p.Phe1417Ile)
c.625T>A (p.Phe209Ile)
1g.94031001G>ACA418825062ABCA4c.4248C>T (p.Phe1416=)
c.624C>T (p.Phe208=)
1g.94031001G>CCA341286037ABCA4c.4248C>G (p.Phe1416Leu)
c.624C>G (p.Phe208Leu)
1g.94031001G=CA1181415152ABCA4c.4248C= (p.Phe1416=)
c.624C= (p.Phe208=)
1g.94031001G>TCA341286039ABCA4c.4248C>A (p.Phe1416Leu)
c.624C>A (p.Phe208Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94031002A>CCA341286041ABCA4c.4247T>G (p.Phe1416Cys)
c.623T>G (p.Phe208Cys)
1g.94031002A>GCA341286043ABCA4c.4247T>C (p.Phe1416Ser)
c.623T>C (p.Phe208Ser)
1g.94031002A>TCA341286044ABCA4c.4247T>A (p.Phe1416Tyr)
c.623T>A (p.Phe208Tyr)
1g.94031003A>CCA341286046ABCA4c.4246T>G (p.Phe1416Val)
c.622T>G (p.Phe208Val)
1g.94031003A>GCA341286048ABCA4c.4246T>C (p.Phe1416Leu)
c.622T>C (p.Phe208Leu)
1g.94031003A>TCA341286050ABCA4c.4246T>A (p.Phe1416Ile)
c.622T>A (p.Phe208Ile)
1g.94031004G>ACA418825066ABCA4c.4245C>T (p.Thr1415=)
c.621C>T (p.Thr207=)
1g.94031004G>CCA418825065ABCA4c.4245C>G (p.Thr1415=)
c.621C>G (p.Thr207=)
1g.94031004G>TCA418825064ABCA4c.4245C>A (p.Thr1415=)
c.621C>A (p.Thr207=)
1g.94031005G>ACA341286054ABCA4c.4244C>T (p.Thr1415Ile)
c.620C>T (p.Thr207Ile)
1g.94031005G>CCA341286051ABCA4c.4244C>G (p.Thr1415Ser)
c.620C>G (p.Thr207Ser)
1g.94031005G>TCA341286052ABCA4c.4244C>A (p.Thr1415Asn)
c.620C>A (p.Thr207Asn)
1g.94031006T>ACA341286056ABCA4c.4243A>T (p.Thr1415Ser)
c.619A>T (p.Thr207Ser)
1g.94031006T>CCA341286057ABCA4c.4243A>G (p.Thr1415Ala)
c.619A>G (p.Thr207Ala)
 dbSNP
1g.94031006T>GCA341286059ABCA4c.4243A>C (p.Thr1415Pro)
c.619A>C (p.Thr207Pro)
 ClinVar dbSNP
1g.94031006T=CA1181415153ABCA4c.4243A= (p.Thr1415=)
c.619A= (p.Thr207=)
1g.94031006dupCA2580063381ABCA4c.4243dup (p.Thr1415AsnfsTer7)
c.619dup (p.Thr207AsnfsTer7)
 ClinVar
1g.94031007G>ACA418825068ABCA4c.4242C>T (p.Tyr1414=)
c.618C>T (p.Tyr206=)
 ClinVar dbSNP gnomAD v4
1g.94031007G>CCA341286061ABCA4c.4242C>G (p.Tyr1414Ter)
c.618C>G (p.Tyr206Ter)
1g.94031007G=CA1181415154ABCA4c.4242C= (p.Tyr1414=)
c.618C= (p.Tyr206=)
1g.94031007G>TCA341286062ABCA4c.4242C>A (p.Tyr1414Ter)
c.618C>A (p.Tyr206Ter)
1g.94031008T>ACA341286063ABCA4c.4241A>T (p.Tyr1414Phe)
c.617A>T (p.Tyr206Phe)
1g.94031008T>CCA341286067ABCA4c.4241A>G (p.Tyr1414Cys)
c.617A>G (p.Tyr206Cys)
1g.94031008T>GCA341286065ABCA4c.4241A>C (p.Tyr1414Ser)
c.617A>C (p.Tyr206Ser)
1g.94031009A>CCA341286068ABCA4c.4240T>G (p.Tyr1414Asp)
c.616T>G (p.Tyr206Asp)
1g.94031009A>GCA341286069ABCA4c.4240T>C (p.Tyr1414His)
c.616T>C (p.Tyr206His)
 gnomAD v4
1g.94031009A>TCA341286071ABCA4c.4240T>A (p.Tyr1414Asn)
c.616T>A (p.Tyr206Asn)
1g.94031010C>ACA341286074ABCA4c.4239G>T (p.Gln1413His)
c.615G>T (p.Gln205His)
1g.94031010C=CA1181415155ABCA4c.4239G= (p.Gln1413=)
c.615G= (p.Gln205=)
1g.94031010C>GCA341286075ABCA4c.4239G>C (p.Gln1413His)
c.615G>C (p.Gln205His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94031010C>TCA418825072ABCA4c.4239G>A (p.Gln1413=)
c.615G>A (p.Gln205=)
 ClinVar dbSNP gnomAD v4
1g.94031011T>ACA341286077ABCA4c.4238A>T (p.Gln1413Leu)
c.614A>T (p.Gln205Leu)
1g.94031011T>CCA341286078ABCA4c.4238A>G (p.Gln1413Arg)
c.614A>G (p.Gln205Arg)
1g.94031011T>GCA341286080ABCA4c.4238A>C (p.Gln1413Pro)
c.614A>C (p.Gln205Pro)
1g.94031012G>ACA341286082ABCA4c.4237C>T (p.Gln1413Ter)
c.613C>T (p.Gln205Ter)
 ClinVar dbSNP
1g.94031012G>CCA341286083ABCA4c.4237C>G (p.Gln1413Glu)
c.613C>G (p.Gln205Glu)
1g.94031012G>TCA341286085ABCA4c.4237C>A (p.Gln1413Lys)
c.613C>A (p.Gln205Lys)
 COSMIC
1g.94031013C>ACA341286088ABCA4c.4236G>T (p.Gln1412His)
c.612G>T (p.Gln204His)
1g.94031013C=CA1181415156ABCA4c.4236G= (p.Gln1412=)
c.612G= (p.Gln204=)
1g.94031013C>GCA341286087ABCA4c.4236G>C (p.Gln1412His)
c.612G>C (p.Gln204His)
1g.94031013C>TCA418825074ABCA4c.4236G>A (p.Gln1412=)
c.612G>A (p.Gln204=)
 dbSNP gnomAD v3 gnomAD v4
1g.94031014T>ACA341286091ABCA4c.4235A>T (p.Gln1412Leu)
c.611A>T (p.Gln204Leu)
1g.94031014T>CCA341286093ABCA4c.4235A>G (p.Gln1412Arg)
c.611A>G (p.Gln204Arg)
1g.94031014T>GCA341286094ABCA4c.4235A>C (p.Gln1412Pro)
c.611A>C (p.Gln204Pro)
1g.94031015G>ACA227169ABCA4c.4234C>T (p.Gln1412Ter)
c.610C>T (p.Gln204Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94031015G>CCA341286096ABCA4c.4234C>G (p.Gln1412Glu)
c.610C>G (p.Gln204Glu)
1g.94031015G=CA1140726172ABCA4c.4234C= (p.Gln1412=)
c.610C= (p.Gln204=)
1g.94031015G>TCA341286098ABCA4c.4234C>A (p.Gln1412Lys)
c.610C>A (p.Gln204Lys)
1g.94031016C>ACA418825076ABCA4c.4233G>T (p.Gly1411=)
c.609G>T (p.Gly203=)
 ClinVar dbSNP gnomAD v4
1g.94031016C>GCA418825077ABCA4c.4233G>C (p.Gly1411=)
c.609G>C (p.Gly203=)
1g.94031016C>TCA418825078ABCA4c.4233G>A (p.Gly1411=)
c.609G>A (p.Gly203=)
1g.94031017C>ACA341286100ABCA4c.4232G>T (p.Gly1411Val)
c.608G>T (p.Gly203Val)
1g.94031017C=CA1181415157ABCA4c.4232G= (p.Gly1411=)
c.608G= (p.Gly203=)
1g.94031017C>GCA341286101ABCA4c.4232G>C (p.Gly1411Ala)
c.608G>C (p.Gly203Ala)
1g.94031017C>TCA341286103ABCA4c.4232G>A (p.Gly1411Glu)
c.608G>A (p.Gly203Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.94031017_94031018insATACCA645372197ABCA4c.4232_4233insTATG (p.Gln1412MetfsTer11)
c.608_609insTATG (p.Gln204MetfsTer11)

Number of alleles fetched