Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94015686_94015691delCA2574438142ABCA4c.5312+56_5312+61del (n.5312+56_5312+61del)
c.1688+56_1688+61del (n.1688+56_1688+61del)
 gnomAD v4
1g.94015683A=CA1181411518ABCA4c.5312+56T= (n.5312+56T=)
c.1688+56T= (n.1688+56T=)
1g.94015683A>CCA645705942ABCA4c.5312+56T>G (n.5312+56T>G)
c.1688+56T>G (n.1688+56T>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.94015684C>TCA2601992010ABCA4c.5312+55G>A (n.5312+55G>A)
c.1688+55G>A (n.1688+55G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94015688delCA2646646860ABCA4c.5312+55del (n.5312+55del)
c.1688+55del (n.1688+55del)
 gnomAD v4
1g.94015685C=CA1181411520ABCA4c.5312+54G= (n.5312+54G=)
c.1688+54G= (n.1688+54G=)
1g.94015685C>TCA1004550376ABCA4c.5312+54G>A (n.5312+54G>A)
c.1688+54G>A (n.1688+54G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94015686C>ACA2646646861ABCA4c.5312+53G>T (n.5312+53G>T)
c.1688+53G>T (n.1688+53G>T)
 gnomAD v4
1g.94015688C>TCA2574438146ABCA4c.5312+51G>A (n.5312+51G>A)
c.1688+51G>A (n.1688+51G>A)
1g.94015689A=CA1148479734ABCA4c.5312+50T= (n.5312+50T=)
c.1688+50T= (n.1688+50T=)
1g.94015689A>CCA957317ABCA4c.5312+50T>G (n.5312+50T>G)
c.1688+50T>G (n.1688+50T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015690C>ACA2553711564ABCA4c.5312+49G>T (n.5312+49G>T)
c.1688+49G>T (n.1688+49G>T)
1g.94015691C>ACA2646646862ABCA4c.5312+48G>T (n.5312+48G>T)
c.1688+48G>T (n.1688+48G>T)
 gnomAD v4
1g.94015691C=CA1181411523ABCA4c.5312+48G= (n.5312+48G=)
c.1688+48G= (n.1688+48G=)
1g.94015691C>GCA1181411524ABCA4c.5312+48G>C (n.5312+48G>C)
c.1688+48G>C (n.1688+48G>C)
 dbSNP gnomAD v4
1g.94015691C>TCA1181411525ABCA4c.5312+48G>A (n.5312+48G>A)
c.1688+48G>A (n.1688+48G>A)
 dbSNP gnomAD v4
1g.94015692A=CA1181411527ABCA4c.5312+47T= (n.5312+47T=)
c.1688+47T= (n.1688+47T=)
1g.94015692A>CCA957318ABCA4c.5312+47T>G (n.5312+47T>G)
c.1688+47T>G (n.1688+47T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015692A>TCA2744615101ABCA4c.5312+47T>A (n.5312+47T>A)
c.1688+47T>A (n.1688+47T>A)
1g.94015693C>ACA2646646863ABCA4c.5312+46G>T (n.5312+46G>T)
c.1688+46G>T (n.1688+46G>T)
 gnomAD v4
1g.94015693C=CA1181411528ABCA4c.5312+46G= (n.5312+46G=)
c.1688+46G= (n.1688+46G=)
1g.94015693C>TCA26842487ABCA4c.5312+46G>A (n.5312+46G>A)
c.1688+46G>A (n.1688+46G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015694C>ACA227297ABCA4c.5312+45G>T (n.5312+45G>T)
c.1688+45G>T (n.1688+45G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015694C=CA1140725875ABCA4c.5312+45G= (n.5312+45G=)
c.1688+45G= (n.1688+45G=)
1g.94015694C>GCA1181411536ABCA4c.5312+45G>C (n.5312+45G>C)
c.1688+45G>C (n.1688+45G>C)
 dbSNP gnomAD v4
1g.94015695A>CCA2646646864ABCA4c.5312+44T>G (n.5312+44T>G)
c.1688+44T>G (n.1688+44T>G)
 gnomAD v4
1g.94015695A>GCA2646646865ABCA4c.5312+44T>C (n.5312+44T>C)
c.1688+44T>C (n.1688+44T>C)
 gnomAD v4
1g.94015695A>TCA2646646866ABCA4c.5312+44T>A (n.5312+44T>A)
c.1688+44T>A (n.1688+44T>A)
 gnomAD v4
1g.94015696G>ACA2646646867ABCA4c.5312+43C>T (n.5312+43C>T)
c.1688+43C>T (n.1688+43C>T)
 gnomAD v4
1g.94015696G>CCA2646646868ABCA4c.5312+43C>G (n.5312+43C>G)
c.1688+43C>G (n.1688+43C>G)
 gnomAD v4
1g.94015697G>ACA2574438157ABCA4c.5312+42C>T (n.5312+42C>T)
c.1688+42C>T (n.1688+42C>T)
 gnomAD v4
1g.94015697G>CCA2646646869ABCA4c.5312+42C>G (n.5312+42C>G)
c.1688+42C>G (n.1688+42C>G)
 gnomAD v4
1g.94015697G=CA1148400376ABCA4c.5312+42C= (n.5312+42C=)
c.1688+42C= (n.1688+42C=)
1g.94015697G>TCA957319ABCA4c.5312+42C>A (n.5312+42C>A)
c.1688+42C>A (n.1688+42C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015699T>ACA2646646870ABCA4c.5312+40A>T (n.5312+40A>T)
c.1688+40A>T (n.1688+40A>T)
 gnomAD v4
1g.94015699T>CCA1004550389ABCA4c.5312+40A>G (n.5312+40A>G)
c.1688+40A>G (n.1688+40A>G)
 gnomAD v3 gnomAD v4
1g.94015699T>GCA2646646871ABCA4c.5312+40A>C (n.5312+40A>C)
c.1688+40A>C (n.1688+40A>C)
 gnomAD v4
1g.94015701C>TCA2646646872ABCA4c.5312+38G>A (n.5312+38G>A)
c.1688+38G>A (n.1688+38G>A)
 gnomAD v4
1g.94015703C>ACA2646646873ABCA4c.5312+36G>T (n.5312+36G>T)
c.1688+36G>T (n.1688+36G>T)
 gnomAD v4
1g.94015704T>ACA2646646874ABCA4c.5312+35A>T (n.5312+35A>T)
c.1688+35A>T (n.1688+35A>T)
 gnomAD v4
1g.94015705T>CCA2744615102ABCA4c.5312+34A>G (n.5312+34A>G)
c.1688+34A>G (n.1688+34A>G)
1g.94015706C>ACA2646646875ABCA4c.5312+33G>T (n.5312+33G>T)
c.1688+33G>T (n.1688+33G>T)
 gnomAD v4
1g.94015707A>CCA2646646876ABCA4c.5312+32T>G (n.5312+32T>G)
c.1688+32T>G (n.1688+32T>G)
 gnomAD v4
1g.94015708G>TCA2646646877ABCA4c.5312+31C>A (n.5312+31C>A)
c.1688+31C>A (n.1688+31C>A)
 gnomAD v4
1g.94015709A>GCA2574438158ABCA4c.5312+30T>C (n.5312+30T>C)
c.1688+30T>C (n.1688+30T>C)
1g.94015710G>TCA2646646878ABCA4c.5312+29C>A (n.5312+29C>A)
c.1688+29C>A (n.1688+29C>A)
 gnomAD v4
1g.94015711G>TCA2574438159ABCA4c.5312+28C>A (n.5312+28C>A)
c.1688+28C>A (n.1688+28C>A)
 gnomAD v4
1g.94015712C=CA1181411541ABCA4c.5312+27G= (n.5312+27G=)
c.1688+27G= (n.1688+27G=)
1g.94015712C>TCA26842490ABCA4c.5312+27G>A (n.5312+27G>A)
c.1688+27G>A (n.1688+27G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015713A>CCA2574438161ABCA4c.5312+26T>G (n.5312+26T>G)
c.1688+26T>G (n.1688+26T>G)
 gnomAD v4
1g.94015713A>GCA2744615103ABCA4c.5312+26T>C (n.5312+26T>C)
c.1688+26T>C (n.1688+26T>C)
1g.94015714T>ACA2646646879ABCA4c.5312+25A>T (n.5312+25A>T)
c.1688+25A>T (n.1688+25A>T)
 gnomAD v4
1g.94015714T>GCA2646646880ABCA4c.5312+25A>C (n.5312+25A>C)
c.1688+25A>C (n.1688+25A>C)
 gnomAD v4
1g.94015717G>TCA2574438163ABCA4c.5312+22C>A (n.5312+22C>A)
c.1688+22C>A (n.1688+22C>A)
 gnomAD v4
1g.94015718C=CA1181411542ABCA4c.5312+21G= (n.5312+21G=)
c.1688+21G= (n.1688+21G=)
1g.94015718C>TCA740506925ABCA4c.5312+21G>A (n.5312+21G>A)
c.1688+21G>A (n.1688+21G>A)
 dbSNP gnomAD v4
1g.94015721A=CA1181411545ABCA4c.5312+18T= (n.5312+18T=)
c.1688+18T= (n.1688+18T=)
1g.94015721A>GCA524383475ABCA4c.5312+18T>C (n.5312+18T>C)
c.1688+18T>C (n.1688+18T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.94015721A>TCA1004550396ABCA4c.5312+18T>A (n.5312+18T>A)
c.1688+18T>A (n.1688+18T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.94015722T>ACA2646646881ABCA4c.5312+17A>T (n.5312+17A>T)
c.1688+17A>T (n.1688+17A>T)
 gnomAD v4
1g.94015722T>CCA2646646882ABCA4c.5312+17A>G (n.5312+17A>G)
c.1688+17A>G (n.1688+17A>G)
 gnomAD v4
1g.94015723G>ACA957320ABCA4c.5312+16C>T (n.5312+16C>T)
c.1688+16C>T (n.1688+16C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94015723G=CA1144011336ABCA4c.5312+16C= (n.5312+16C=)
c.1688+16C= (n.1688+16C=)
1g.94015723G>TCA2574438166ABCA4c.5312+16C>A (n.5312+16C>A)
c.1688+16C>A (n.1688+16C>A)
 gnomAD v4
1g.94015724G>ACA524383476ABCA4c.5312+15C>T (n.5312+15C>T)
c.1688+15C>T (n.1688+15C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94015724G=CA1181411550ABCA4c.5312+15C= (n.5312+15C=)
c.1688+15C= (n.1688+15C=)
1g.94015724G>TCA2574438167ABCA4c.5312+15C>A (n.5312+15C>A)
c.1688+15C>A (n.1688+15C>A)
 gnomAD v4
1g.94015725C=CA1143640824ABCA4c.5312+14G= (n.5312+14G=)
c.1688+14G= (n.1688+14G=)
1g.94015725C>GCA2646646883ABCA4c.5312+14G>C (n.5312+14G>C)
c.1688+14G>C (n.1688+14G>C)
 gnomAD v4
1g.94015725C>TCA957321ABCA4c.5312+14G>A (n.5312+14G>A)
c.1688+14G>A (n.1688+14G>A)
 dbSNP ExAC gnomAD v2
1g.94015725_94015734delCA2499214870ABCA4c.5312+5_5312+14del (n.5312+5_5312+14del)
c.1688+5_1688+14del (n.1688+5_1688+14del)
 ClinVar dbSNP
1g.94015727C=CA1143906665ABCA4c.5312+12G= (n.5312+12G=)
c.1688+12G= (n.1688+12G=)
1g.94015727C>GCA957322ABCA4c.5312+12G>C (n.5312+12G>C)
c.1688+12G>C (n.1688+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015727C>TCA524383477ABCA4c.5312+12G>A (n.5312+12G>A)
c.1688+12G>A (n.1688+12G>A)
 dbSNP gnomAD v2
1g.94015728A=CA1181411559ABCA4c.5312+11T= (n.5312+11T=)
c.1688+11T= (n.1688+11T=)
1g.94015728A>GCA957323ABCA4c.5312+11T>C (n.5312+11T>C)
c.1688+11T>C (n.1688+11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015729A>CCA2646646884ABCA4c.5312+10T>G (n.5312+10T>G)
c.1688+10T>G (n.1688+10T>G)
 ClinVar gnomAD v4
1g.94015730A=CA1144156553ABCA4c.5312+9T= (n.5312+9T=)
c.1688+9T= (n.1688+9T=)
1g.94015730A>GCA26842493ABCA4c.5312+9T>C (n.5312+9T>C)
c.1688+9T>C (n.1688+9T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.94015731C>ACA1181411567ABCA4c.5312+8G>T (n.5312+8G>T)
c.1688+8G>T (n.1688+8G>T)
 dbSNP
1g.94015731C=CA1142959576ABCA4c.5312+8G= (n.5312+8G=)
c.1688+8G= (n.1688+8G=)
1g.94015731C>TCA233410ABCA4c.5312+8G>A (n.5312+8G>A)
c.1688+8G>A (n.1688+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015732G>ACA957324ABCA4c.5312+7C>T (n.5312+7C>T)
c.1688+7C>T (n.1688+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.94015732G=CA1181411571ABCA4c.5312+7C= (n.5312+7C=)
c.1688+7C= (n.1688+7C=)
1g.94015732G>TCA2646646885ABCA4c.5312+7C>A (n.5312+7C>A)
c.1688+7C>A (n.1688+7C>A)
 gnomAD v4
1g.94015733G>ACA2646646886ABCA4c.5312+6C>T (n.5312+6C>T)
c.1688+6C>T (n.1688+6C>T)
 gnomAD v4
1g.94015733G>CCA418819640ABCA4c.5312+6C>G (n.5312+6C>G)
c.1688+6C>G (n.1688+6C>G)
 COSMIC
1g.94015736T>ACA645372240ABCA4c.5312+3A>T (n.5312+3A>T)
c.1688+3A>T (n.1688+3A>T)
 ClinVar dbSNP gnomAD v4
1g.94015736T>CCA957325ABCA4c.5312+3A>G (n.5312+3A>G)
c.1688+3A>G (n.1688+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94015736T=CA1181411574ABCA4c.5312+3A= (n.5312+3A=)
c.1688+3A= (n.1688+3A=)
1g.94015737A=CA1181411577ABCA4c.5312+2T= (n.5312+2T=)
c.1688+2T= (n.1688+2T=)
1g.94015737A>CCA341281541ABCA4c.5312+2T>G (n.5312+2T>G)
c.1688+2T>G (n.1688+2T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94015737A>GCA341281542ABCA4c.5312+2T>C (n.5312+2T>C)
c.1688+2T>C (n.1688+2T>C)
 ClinVar
1g.94015737A>TCA341281543ABCA4c.5312+2T>A (n.5312+2T>A)
c.1688+2T>A (n.1688+2T>A)
1g.94015738C>ACA341281544ABCA4c.5312+1G>T (n.5312+1G>T)
c.1688+1G>T (n.1688+1G>T)
1g.94015738C=CA1181411582ABCA4c.5312+1G= (n.5312+1G=)
c.1688+1G= (n.1688+1G=)
1g.94015738C>GCA341281545ABCA4c.5312+1G>C (n.5312+1G>C)
c.1688+1G>C (n.1688+1G>C)
1g.94015738C>TCA10602420ABCA4c.5312+1G>A (n.5312+1G>A)
c.1688+1G>A (n.1688+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015739C>ACA957326ABCA4c.5312G>T (p.Gly1771Val)
c.1688G>T (p.Gly563Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94015739C=CA1181411585ABCA4c.5312G= (p.Gly1771=)
c.1688G= (p.Gly563=)
1g.94015739C>GCA341281546ABCA4c.5312G>C (p.Gly1771Ala)
c.1688G>C (p.Gly563Ala)
1g.94015739C>TCA341281547ABCA4c.5312G>A (p.Gly1771Glu)
c.1688G>A (p.Gly563Glu)
1g.94015740C>ACA341281548ABCA4c.5311G>T (p.Gly1771Ter)
c.1687G>T (p.Gly563Ter)
1g.94015740C=CA1143966897ABCA4c.5311G= (p.Gly1771=)
c.1687G= (p.Gly563=)
1g.94015740C>GCA341281549ABCA4c.5311G>C (p.Gly1771Arg)
c.1687G>C (p.Gly563Arg)
1g.94015740C>TCA26842500ABCA4c.5311G>A (p.Gly1771Arg)
c.1687G>A (p.Gly563Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.94015741A>CCA341281550ABCA4c.5310T>G (p.Tyr1770Ter)
c.1686T>G (p.Tyr562Ter)
 ClinVar
1g.94015741A>GCA418819662ABCA4c.5310T>C (p.Tyr1770=)
c.1686T>C (p.Tyr562=)
 ClinVar dbSNP
1g.94015741A>TCA341281551ABCA4c.5310T>A (p.Tyr1770Ter)
c.1686T>A (p.Tyr562Ter)
1g.94015742T>ACA341281552ABCA4c.5309A>T (p.Tyr1770Phe)
c.1685A>T (p.Tyr562Phe)
1g.94015742T>CCA957327ABCA4c.5309A>G (p.Tyr1770Cys)
c.1685A>G (p.Tyr562Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94015742T>GCA341281553ABCA4c.5309A>C (p.Tyr1770Ser)
c.1685A>C (p.Tyr562Ser)
1g.94015742T=CA1181411590ABCA4c.5309A= (p.Tyr1770=)
c.1685A= (p.Tyr562=)
1g.94015743A=CA1181411596ABCA4c.5308T= (p.Tyr1770=)
c.1684T= (p.Tyr562=)
1g.94015743A>CCA341281554ABCA4c.5308T>G (p.Tyr1770Asp)
c.1684T>G (p.Tyr562Asp)
 ClinVar dbSNP gnomAD v4
1g.94015743A>GCA341281555ABCA4c.5308T>C (p.Tyr1770His)
c.1684T>C (p.Tyr562His)
1g.94015743A>TCA341281556ABCA4c.5308T>A (p.Tyr1770Asn)
c.1684T>A (p.Tyr562Asn)
1g.94015744C>ACA418819672ABCA4c.5307G>T (p.Leu1769=)
c.1683G>T (p.Leu561=)
1g.94015744C=CA1142115957ABCA4c.5307G= (p.Leu1769=)
c.1683G= (p.Leu561=)
1g.94015744C>GCA957328ABCA4c.5307G>C (p.Leu1769=)
c.1683G>C (p.Leu561=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015744C>TCA418819675ABCA4c.5307G>A (p.Leu1769=)
c.1683G>A (p.Leu561=)
 gnomAD v4
1g.94015745A>CCA341281557ABCA4c.5306T>G (p.Leu1769Arg)
c.1682T>G (p.Leu561Arg)
1g.94015745A>GCA341281559ABCA4c.5306T>C (p.Leu1769Pro)
c.1682T>C (p.Leu561Pro)
1g.94015745A>TCA341281558ABCA4c.5306T>A (p.Leu1769Gln)
c.1682T>A (p.Leu561Gln)
1g.94015746G>ACA418819680ABCA4c.5305C>T (p.Leu1769=)
c.1681C>T (p.Leu561=)
 ClinVar dbSNP gnomAD v2
1g.94015746G>CCA341281560ABCA4c.5305C>G (p.Leu1769Val)
c.1681C>G (p.Leu561Val)
1g.94015746G=CA1181411602ABCA4c.5305C= (p.Leu1769=)
c.1681C= (p.Leu561=)
1g.94015746G>TCA341281561ABCA4c.5305C>A (p.Leu1769Met)
c.1681C>A (p.Leu561Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015747C>ACA418819687ABCA4c.5304G>T (p.Leu1768=)
c.1680G>T (p.Leu560=)
1g.94015747C>GCA418819689ABCA4c.5304G>C (p.Leu1768=)
c.1680G>C (p.Leu560=)
 gnomAD v4
1g.94015747C>TCA418819685ABCA4c.5304G>A (p.Leu1768=)
c.1680G>A (p.Leu560=)
1g.94015748A>CCA341281562ABCA4c.5303T>G (p.Leu1768Arg)
c.1679T>G (p.Leu560Arg)
1g.94015748A>GCA341281563ABCA4c.5303T>C (p.Leu1768Pro)
c.1679T>C (p.Leu560Pro)
1g.94015748A>TCA341281564ABCA4c.5303T>A (p.Leu1768Gln)
c.1679T>A (p.Leu560Gln)
1g.94015748_94015749delCA645372212ABCA4c.5302_5303del (p.Leu1768AlafsTer18)
c.1678_1679del (p.Leu560AlafsTer18)
1g.94015749G>ACA418819691ABCA4c.5302C>T (p.Leu1768=)
c.1678C>T (p.Leu560=)
1g.94015749G>CCA341281565ABCA4c.5302C>G (p.Leu1768Val)
c.1678C>G (p.Leu560Val)
1g.94015749G>TCA341281566ABCA4c.5302C>A (p.Leu1768Met)
c.1678C>A (p.Leu560Met)
1g.94015750G>ACA418819696ABCA4c.5301C>T (p.Leu1767=)
c.1677C>T (p.Leu559=)
 gnomAD v4
1g.94015750G>CCA418819693ABCA4c.5301C>G (p.Leu1767=)
c.1677C>G (p.Leu559=)
1g.94015750G>TCA418819694ABCA4c.5301C>A (p.Leu1767=)
c.1677C>A (p.Leu559=)
1g.94015751delCA2574438174ABCA4c.5300del (p.Leu1767ProfsTer11)
c.1676del (p.Leu559ProfsTer11)
1g.94015751A=CA1181411604ABCA4c.5300T= (p.Leu1767=)
c.1676T= (p.Leu559=)
1g.94015751A>CCA341281567ABCA4c.5300T>G (p.Leu1767Arg)
c.1676T>G (p.Leu559Arg)
1g.94015751A>GCA341281568ABCA4c.5300T>C (p.Leu1767Pro)
c.1676T>C (p.Leu559Pro)
 dbSNP gnomAD v4
1g.94015751A>TCA341281569ABCA4c.5300T>A (p.Leu1767His)
c.1676T>A (p.Leu559His)
1g.94015752G>ACA341281570ABCA4c.5299C>T (p.Leu1767Phe)
c.1675C>T (p.Leu559Phe)
 COSMIC
1g.94015752G>CCA341281571ABCA4c.5299C>G (p.Leu1767Val)
c.1675C>G (p.Leu559Val)
1g.94015752G>TCA341281572ABCA4c.5299C>A (p.Leu1767Ile)
c.1675C>A (p.Leu559Ile)
1g.94015753C>ACA418819703ABCA4c.5298G>T (p.Leu1766=)
c.1674G>T (p.Leu558=)
1g.94015753C>GCA418819708ABCA4c.5298G>C (p.Leu1766=)
c.1674G>C (p.Leu558=)
1g.94015753C>TCA418819705ABCA4c.5298G>A (p.Leu1766=)
c.1674G>A (p.Leu558=)
 gnomAD v4
1g.94015754A>CCA341281573ABCA4c.5297T>G (p.Leu1766Arg)
c.1673T>G (p.Leu558Arg)
1g.94015754A>GCA341281574ABCA4c.5297T>C (p.Leu1766Pro)
c.1673T>C (p.Leu558Pro)
 gnomAD v4
1g.94015754A>TCA341281575ABCA4c.5297T>A (p.Leu1766Gln)
c.1673T>A (p.Leu558Gln)
1g.94015755G>ACA418819714ABCA4c.5296C>T (p.Leu1766=)
c.1672C>T (p.Leu558=)
 dbSNP gnomAD v2
1g.94015755G>CCA341281576ABCA4c.5296C>G (p.Leu1766Val)
c.1672C>G (p.Leu558Val)
1g.94015755G=CA1181411608ABCA4c.5296C= (p.Leu1766=)
c.1672C= (p.Leu558=)
1g.94015755G>TCA341281577ABCA4c.5296C>A (p.Leu1766Met)
c.1672C>A (p.Leu558Met)
1g.94015756T>ACA418819717ABCA4c.5295A>T (p.Ala1765=)
c.1671A>T (p.Ala557=)
1g.94015756T>CCA418819719ABCA4c.5295A>G (p.Ala1765=)
c.1671A>G (p.Ala557=)
1g.94015756T>GCA418819720ABCA4c.5295A>C (p.Ala1765=)
c.1671A>C (p.Ala557=)
1g.94015757G>ACA341281578ABCA4c.5294C>T (p.Ala1765Val)
c.1670C>T (p.Ala557Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015757G>CCA341281579ABCA4c.5294C>G (p.Ala1765Gly)
c.1670C>G (p.Ala557Gly)
1g.94015757G=CA1181411611ABCA4c.5294C= (p.Ala1765=)
c.1670C= (p.Ala557=)
1g.94015757G>TCA341281580ABCA4c.5294C>A (p.Ala1765Glu)
c.1670C>A (p.Ala557Glu)
1g.94015758C>ACA341281581ABCA4c.5293G>T (p.Ala1765Ser)
c.1669G>T (p.Ala557Ser)
1g.94015758C>GCA341281582ABCA4c.5293G>C (p.Ala1765Pro)
c.1669G>C (p.Ala557Pro)
1g.94015758C>TCA341281583ABCA4c.5293G>A (p.Ala1765Thr)
c.1669G>A (p.Ala557Thr)
 gnomAD v4
1g.94015759C>ACA418819727ABCA4c.5292G>T (p.Val1764=)
c.1668G>T (p.Val556=)
 ClinVar
1g.94015759C>GCA418819729ABCA4c.5292G>C (p.Val1764=)
c.1668G>C (p.Val556=)
1g.94015759C>TCA418819731ABCA4c.5292G>A (p.Val1764=)
c.1668G>A (p.Val556=)
 gnomAD v4
1g.94015760A>CCA341281584ABCA4c.5291T>G (p.Val1764Gly)
c.1667T>G (p.Val556Gly)
1g.94015760A>GCA341281585ABCA4c.5291T>C (p.Val1764Ala)
c.1667T>C (p.Val556Ala)
1g.94015760A>TCA341281586ABCA4c.5291T>A (p.Val1764Glu)
c.1667T>A (p.Val556Glu)
1g.94015761C>ACA341281587ABCA4c.5290G>T (p.Val1764Leu)
c.1666G>T (p.Val556Leu)
1g.94015761C>GCA341281588ABCA4c.5290G>C (p.Val1764Leu)
c.1666G>C (p.Val556Leu)
1g.94015761C>TCA341281589ABCA4c.5290G>A (p.Val1764Met)
c.1666G>A (p.Val556Met)
1g.94015761_94015762delinsCACA1181411615ABCA4c.5289_5290delinsTG (p.Leu1763=)
c.1665_1666delinsTG (p.Leu555=)
1g.94015761_94015770delinsCAAGGGCAGGCA1181411614ABCA4c.5281_5290delinsCCTGCCCTTG (p.Pro1761=)
c.1657_1666delinsCCTGCCCTTG (p.Pro553=)
1g.94015762A>CCA418819740ABCA4c.5289T>G (p.Leu1763=)
c.1665T>G (p.Leu555=)
 ClinVar gnomAD v4
1g.94015762A>GCA418819742ABCA4c.5289T>C (p.Leu1763=)
c.1665T>C (p.Leu555=)
1g.94015762A>TCA418819744ABCA4c.5289T>A (p.Leu1763=)
c.1665T>A (p.Leu555=)
1g.94015763delCA645372211ABCA4c.5289del (p.Val1764TrpfsTer14)
c.1665del (p.Val556TrpfsTer14)
 ClinVar dbSNP
1g.94015762_94015774delCA1004550420ABCA4c.5277_5289del (p.Asn1759LysfsTer15)
c.1653_1665del (p.Asn551LysfsTer15)
 gnomAD v3 gnomAD v4
1g.94015762_94015774delinsAAGGGCAGGAAGGCA1140725878ABCA4c.5277_5289delinsCCTTCCTGCCCTT (p.Asn1759=)
c.1653_1665delinsCCTTCCTGCCCTT (p.Asn551=)
1g.94015766_94015774delCA227293ABCA4c.5281_5289del (p.Pro1761_Leu1763del)
c.1657_1665del (p.Pro553_Leu555del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94015763A=CA1140725881ABCA4c.5288T= (p.Leu1763=)
c.1664T= (p.Leu555=)
1g.94015763A>CCA341281590ABCA4c.5288T>G (p.Leu1763Arg)
c.1664T>G (p.Leu555Arg)
1g.94015763A>GCA227295ABCA4c.5288T>C (p.Leu1763Pro)
c.1664T>C (p.Leu555Pro)
 ClinVar dbSNP
1g.94015763A>TCA341281591ABCA4c.5288T>A (p.Leu1763His)
c.1664T>A (p.Leu555His)
1g.94015764G>ACA341281592ABCA4c.5287C>T (p.Leu1763Phe)
c.1663C>T (p.Leu555Phe)
 gnomAD v4
1g.94015764G>CCA341281593ABCA4c.5287C>G (p.Leu1763Val)
c.1663C>G (p.Leu555Val)
1g.94015764G>TCA341281594ABCA4c.5287C>A (p.Leu1763Ile)
c.1663C>A (p.Leu555Ile)
1g.94015765G>ACA418819758ABCA4c.5286C>T (p.Ala1762=)
c.1662C>T (p.Ala554=)
1g.94015765G>CCA418819761ABCA4c.5286C>G (p.Ala1762=)
c.1662C>G (p.Ala554=)
1g.94015765G=CA1181411630ABCA4c.5286C= (p.Ala1762=)
c.1662C= (p.Ala554=)
1g.94015765G>TCA957329ABCA4c.5286C>A (p.Ala1762=)
c.1662C>A (p.Ala554=)
 dbSNP ExAC gnomAD v4
1g.94015766G>ACA341281595ABCA4c.5285C>T (p.Ala1762Val)
c.1661C>T (p.Ala554Val)
 dbSNP gnomAD v2 gnomAD v4
1g.94015766G>CCA341281596ABCA4c.5285C>G (p.Ala1762Gly)
c.1661C>G (p.Ala554Gly)
1g.94015766G=CA1141580919ABCA4c.5285C= (p.Ala1762=)
c.1661C= (p.Ala554=)
1g.94015766G>TCA119142ABCA4c.5285C>A (p.Ala1762Asp)
c.1661C>A (p.Ala554Asp)
 ClinVar dbSNP
1g.94015767delCA2697552507ABCA4c.5284del (p.Ala1762ProfsTer16)
c.1660del (p.Ala554ProfsTer16)
 ClinVar
1g.94015767C>ACA341281597ABCA4c.5284G>T (p.Ala1762Ser)
c.1660G>T (p.Ala554Ser)
1g.94015767C>GCA341281598ABCA4c.5284G>C (p.Ala1762Pro)
c.1660G>C (p.Ala554Pro)
1g.94015767C>TCA341281599ABCA4c.5284G>A (p.Ala1762Thr)
c.1660G>A (p.Ala554Thr)
1g.94015768A>CCA418819771ABCA4c.5283T>G (p.Pro1761=)
c.1659T>G (p.Pro553=)
1g.94015768A>GCA418819773ABCA4c.5283T>C (p.Pro1761=)
c.1659T>C (p.Pro553=)
1g.94015768A>TCA418819769ABCA4c.5283T>A (p.Pro1761=)
c.1659T>A (p.Pro553=)
 gnomAD v4
1g.94015769G>ACA341281600ABCA4c.5282C>T (p.Pro1761Leu)
c.1658C>T (p.Pro553Leu)
 gnomAD v4
1g.94015769G>CCA16603704ABCA4c.5282C>G (p.Pro1761Arg)
c.1658C>G (p.Pro553Arg)
 ClinVar dbSNP
1g.94015769G=CA1181411645ABCA4c.5282C= (p.Pro1761=)
c.1658C= (p.Pro553=)
1g.94015769G>TCA341281601ABCA4c.5282C>A (p.Pro1761His)
c.1658C>A (p.Pro553His)
1g.94015770G>ACA341281604ABCA4c.5281C>T (p.Pro1761Ser)
c.1657C>T (p.Pro553Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.94015770G>CCA341281602ABCA4c.5281C>G (p.Pro1761Ala)
c.1657C>G (p.Pro553Ala)
1g.94015770G=CA1181411654ABCA4c.5281C= (p.Pro1761=)
c.1657C= (p.Pro553=)
1g.94015770G>TCA341281603ABCA4c.5281C>A (p.Pro1761Thr)
c.1657C>A (p.Pro553Thr)
 ClinVar dbSNP gnomAD v4
1g.94015771A>CCA418819784ABCA4c.5280T>G (p.Leu1760=)
c.1656T>G (p.Leu552=)
1g.94015771A>GCA418819781ABCA4c.5280T>C (p.Leu1760=)
c.1656T>C (p.Leu552=)
1g.94015771A>TCA418819783ABCA4c.5280T>A (p.Leu1760=)
c.1656T>A (p.Leu552=)
1g.94015772A>CCA341281605ABCA4c.5279T>G (p.Leu1760Arg)
c.1655T>G (p.Leu552Arg)
1g.94015772A>GCA341281606ABCA4c.5279T>C (p.Leu1760Pro)
c.1655T>C (p.Leu552Pro)
1g.94015772A>TCA341281607ABCA4c.5279T>A (p.Leu1760His)
c.1655T>A (p.Leu552His)
1g.94015773G>ACA341281608ABCA4c.5278C>T (p.Leu1760Phe)
c.1654C>T (p.Leu552Phe)
1g.94015773G>CCA341281609ABCA4c.5278C>G (p.Leu1760Val)
c.1654C>G (p.Leu552Val)
1g.94015773G=CA1181411658ABCA4c.5278C= (p.Leu1760=)
c.1654C= (p.Leu552=)
1g.94015773G>TCA957330ABCA4c.5278C>A (p.Leu1760Ile)
c.1654C>A (p.Leu552Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.94015774G>ACA418819792ABCA4c.5277C>T (p.Asn1759=)
c.1653C>T (p.Asn551=)
 dbSNP gnomAD v4
1g.94015774G>CCA341281610ABCA4c.5277C>G (p.Asn1759Lys)
c.1653C>G (p.Asn551Lys)
1g.94015774G=CA1181411661ABCA4c.5277C= (p.Asn1759=)
c.1653C= (p.Asn551=)
1g.94015774G>TCA341281611ABCA4c.5277C>A (p.Asn1759Lys)
c.1653C>A (p.Asn551Lys)
1g.94015775T>ACA341281612ABCA4c.5276A>T (p.Asn1759Ile)
c.1652A>T (p.Asn551Ile)
1g.94015775T>CCA341281613ABCA4c.5276A>G (p.Asn1759Ser)
c.1652A>G (p.Asn551Ser)
1g.94015775T>GCA341281614ABCA4c.5276A>C (p.Asn1759Thr)
c.1652A>C (p.Asn551Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.94015775T=CA1181411663ABCA4c.5276A= (p.Asn1759=)
c.1652A= (p.Asn551=)
1g.94015776T>ACA341281615ABCA4c.5275A>T (p.Asn1759Tyr)
c.1651A>T (p.Asn551Tyr)
1g.94015776T>CCA341281617ABCA4c.5275A>G (p.Asn1759Asp)
c.1651A>G (p.Asn551Asp)
1g.94015776T>GCA341281616ABCA4c.5275A>C (p.Asn1759His)
c.1651A>C (p.Asn551His)
1g.94015777T>ACA341281618ABCA4c.5274A>T (p.Glu1758Asp)
c.1650A>T (p.Glu550Asp)
1g.94015777T>CCA418819804ABCA4c.5274A>G (p.Glu1758=)
c.1650A>G (p.Glu550=)
1g.94015777T>GCA341281619ABCA4c.5274A>C (p.Glu1758Asp)
c.1650A>C (p.Glu550Asp)
1g.94015778T>ACA341281620ABCA4c.5273A>T (p.Glu1758Val)
c.1649A>T (p.Glu550Val)
1g.94015778T>CCA957331ABCA4c.5273A>G (p.Glu1758Gly)
c.1649A>G (p.Glu550Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94015778T>GCA341281621ABCA4c.5273A>C (p.Glu1758Ala)
c.1649A>C (p.Glu550Ala)
1g.94015778T=CA1181411669ABCA4c.5273A= (p.Glu1758=)
c.1649A= (p.Glu550=)
1g.94015779C>ACA341281624ABCA4c.5272G>T (p.Glu1758Ter)
c.1648G>T (p.Glu550Ter)
1g.94015779C>GCA341281623ABCA4c.5272G>C (p.Glu1758Gln)
c.1648G>C (p.Glu550Gln)
1g.94015779C>TCA341281622ABCA4c.5272G>A (p.Glu1758Lys)
c.1648G>A (p.Glu550Lys)
1g.94015780T>ACA418819818ABCA4c.5271A>T (p.Pro1757=)
c.1647A>T (p.Pro549=)
1g.94015780T>CCA418819819ABCA4c.5271A>G (p.Pro1757=)
c.1647A>G (p.Pro549=)
1g.94015780T>GCA418819820ABCA4c.5271A>C (p.Pro1757=)
c.1647A>C (p.Pro549=)
1g.94015781G>ACA341281625ABCA4c.5270C>T (p.Pro1757Leu)
c.1646C>T (p.Pro549Leu)
1g.94015781G>CCA341281626ABCA4c.5270C>G (p.Pro1757Arg)
c.1646C>G (p.Pro549Arg)
1g.94015781G>TCA341281627ABCA4c.5270C>A (p.Pro1757Gln)
c.1646C>A (p.Pro549Gln)
1g.94015782_94015784delCA2646646887ABCA4c.5268_5270del (p.Pro1757del)
c.1644_1646del (p.Pro549del)
 gnomAD v4
1g.94015782G>ACA341281628ABCA4c.5269C>T (p.Pro1757Ser)
c.1645C>T (p.Pro549Ser)
 COSMIC
1g.94015782G>CCA341281629ABCA4c.5269C>G (p.Pro1757Ala)
c.1645C>G (p.Pro549Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94015782G=CA1181411673ABCA4c.5269C= (p.Pro1757=)
c.1645C= (p.Pro549=)
1g.94015782G>TCA341281630ABCA4c.5269C>A (p.Pro1757Thr)
c.1645C>A (p.Pro549Thr)
1g.94015783A>CCA418819828ABCA4c.5268T>G (p.Ser1756=)
c.1644T>G (p.Ser548=)
1g.94015783A>GCA418819830ABCA4c.5268T>C (p.Ser1756=)
c.1644T>C (p.Ser548=)
1g.94015783A>TCA418819832ABCA4c.5268T>A (p.Ser1756=)
c.1644T>A (p.Ser548=)

Number of alleles fetched