Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94031026_94031027delinsCACA1181415162ABCA4c.4222_4223delinsTG (p.Trp1408=)
c.598_599delinsTG (p.Trp200=)
1g.94031027delCA915941340ABCA4c.4222del (p.Trp1408GlyfsTer28)
c.598del (p.Trp200GlyfsTer28)
ClinVar dbSNP gnomAD v4
1g.94031027A=CA1140726175ABCA4c.4222T= (p.Trp1408=)
c.598T= (p.Trp200=)
1g.94031027A>CCA341286142ABCA4c.4222T>G (p.Trp1408Gly)
c.598T>G (p.Trp200Gly)
1g.94031027A>GCA227166ABCA4c.4222T>C (p.Trp1408Arg)
c.598T>C (p.Trp200Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94031027A>TCA341286145ABCA4c.4222T>A (p.Trp1408Arg)
c.598T>A (p.Trp200Arg)
1g.94031028G>ACA418825089ABCA4c.4221C>T (p.Pro1407=)
c.597C>T (p.Pro199=)
1g.94031028G>CCA418825088ABCA4c.4221C>G (p.Pro1407=)
c.597C>G (p.Pro199=)
1g.94031028G>TCA418825087ABCA4c.4221C>A (p.Pro1407=)
c.597C>A (p.Pro199=)
1g.94031029G>ACA16617203ABCA4c.4220C>T (p.Pro1407Leu)
c.596C>T (p.Pro199Leu)
ClinVar dbSNP
1g.94031029G>CCA341286147ABCA4c.4220C>G (p.Pro1407Arg)
c.596C>G (p.Pro199Arg)
1g.94031029G=CA1181415163ABCA4c.4220C= (p.Pro1407=)
c.596C= (p.Pro199=)
1g.94031029G>TCA341286149ABCA4c.4220C>A (p.Pro1407His)
c.596C>A (p.Pro199His)
1g.94031030G>ACA341286151ABCA4c.4219C>T (p.Pro1407Ser)
c.595C>T (p.Pro199Ser)
ClinVar COSMIC
1g.94031030G>CCA341286152ABCA4c.4219C>G (p.Pro1407Ala)
c.595C>G (p.Pro199Ala)
1g.94031030G>TCA341286154ABCA4c.4219C>A (p.Pro1407Thr)
c.595C>A (p.Pro199Thr)
gnomAD v4
1g.94031031G>ACA418825093ABCA4c.4218C>T (p.His1406=)
c.594C>T (p.His198=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94031031G>CCA341286156ABCA4c.4218C>G (p.His1406Gln)
c.594C>G (p.His198Gln)
1g.94031031G=CA1181415164ABCA4c.4218C= (p.His1406=)
c.594C= (p.His198=)
1g.94031031G>TCA341286157ABCA4c.4218C>A (p.His1406Gln)
c.594C>A (p.His198Gln)
1g.94031032delCA2586966890ABCA4c.4217del (p.His1406ProfsTer30)
c.593del (p.His198ProfsTer30)
1g.94031032T>ACA341286163ABCA4c.4217A>T (p.His1406Leu)
c.593A>T (p.His198Leu)
1g.94031032T>CCA341286159ABCA4c.4217A>G (p.His1406Arg)
c.593A>G (p.His198Arg)
ClinVar dbSNP gnomAD v4
1g.94031032T>GCA341286161ABCA4c.4217A>C (p.His1406Pro)
c.593A>C (p.His198Pro)
1g.94031032T=CA1181415165ABCA4c.4217A= (p.His1406=)
c.593A= (p.His198=)
1g.94031033delCA2586966892ABCA4c.4216del (p.His1406ThrfsTer30)
c.592del (p.His198ThrfsTer30)
1g.94031033G>ACA227165ABCA4c.4216C>T (p.His1406Tyr)
c.592C>T (p.His198Tyr)
ClinVar dbSNP gnomAD v4
1g.94031033G>CCA341286165ABCA4c.4216C>G (p.His1406Asp)
c.592C>G (p.His198Asp)
gnomAD v4
1g.94031033G=CA1140726176ABCA4c.4216C= (p.His1406=)
c.592C= (p.His198=)
1g.94031033G>TCA341286167ABCA4c.4216C>A (p.His1406Asn)
c.592C>A (p.His198Asn)
1g.94031034A>CCA418825094ABCA4c.4215T>G (p.Leu1405=)
c.591T>G (p.Leu197=)
1g.94031034A>GCA418825095ABCA4c.4215T>C (p.Leu1405=)
c.591T>C (p.Leu197=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.94031034A>TCA418825096ABCA4c.4215T>A (p.Leu1405=)
c.591T>A (p.Leu197=)
1g.94031035A>CCA341286169ABCA4c.4214T>G (p.Leu1405Arg)
c.590T>G (p.Leu197Arg)
1g.94031035A>GCA341286171ABCA4c.4214T>C (p.Leu1405Pro)
c.590T>C (p.Leu197Pro)
1g.94031035A>TCA341286173ABCA4c.4214T>A (p.Leu1405His)
c.590T>A (p.Leu197His)
1g.94031036G>ACA341286174ABCA4c.4213C>T (p.Leu1405Phe)
c.589C>T (p.Leu197Phe)
1g.94031036G>CCA341286176ABCA4c.4213C>G (p.Leu1405Val)
c.589C>G (p.Leu197Val)
1g.94031036G>TCA341286177ABCA4c.4213C>A (p.Leu1405Ile)
c.589C>A (p.Leu197Ile)
1g.94031037G>ACA957685ABCA4c.4212C>T (p.Thr1404=)
c.588C>T (p.Thr196=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.94031037G>CCA418825100ABCA4c.4212C>G (p.Thr1404=)
c.588C>G (p.Thr196=)
1g.94031037G=CA1181415166ABCA4c.4212C= (p.Thr1404=)
c.588C= (p.Thr196=)
1g.94031037G>TCA418825101ABCA4c.4212C>A (p.Thr1404=)
c.588C>A (p.Thr196=)
gnomAD v4
1g.94031038G>ACA341286187ABCA4c.4211C>T (p.Thr1404Ile)
c.587C>T (p.Thr196Ile)
COSMIC
1g.94031038G>CCA341286189ABCA4c.4211C>G (p.Thr1404Ser)
c.587C>G (p.Thr196Ser)
1g.94031038G>TCA341286178ABCA4c.4211C>A (p.Thr1404Asn)
c.587C>A (p.Thr196Asn)
1g.94031039T>ACA341286191ABCA4c.4210A>T (p.Thr1404Ser)
c.586A>T (p.Thr196Ser)
1g.94031039T>CCA341286193ABCA4c.4210A>G (p.Thr1404Ala)
c.586A>G (p.Thr196Ala)
1g.94031039T>GCA341286194ABCA4c.4210A>C (p.Thr1404Pro)
c.586A>C (p.Thr196Pro)
1g.94031040C>ACA341286196ABCA4c.4209G>T (p.Leu1403Phe)
c.585G>T (p.Leu195Phe)

Number of alleles fetched