Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94030300_94030478delCA2499214887ABCA4c.4302_4352+128del
c.678_728+128del
 ClinVar dbSNP
1g.94030468G>ACA341285755ABCA4c.4312C>T (p.Pro1438Ser)
c.688C>T (p.Pro230Ser)
1g.94030468G>CCA26854468ABCA4c.4312C>G (p.Pro1438Ala)
c.688C>G (p.Pro230Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030468G=CA1181414929ABCA4c.4312C= (p.Pro1438=)
c.688C= (p.Pro230=)
1g.94030468G>TCA341285757ABCA4c.4312C>A (p.Pro1438Thr)
c.688C>A (p.Pro230Thr)
 ClinVar
1g.94030469C>ACA341285759ABCA4c.4311G>T (p.Lys1437Asn)
c.687G>T (p.Lys229Asn)
1g.94030469C=CA1181414930ABCA4c.4311G= (p.Lys1437=)
c.687G= (p.Lys229=)
1g.94030469C>GCA341285761ABCA4c.4311G>C (p.Lys1437Asn)
c.687G>C (p.Lys229Asn)
 gnomAD v4
1g.94030469C>TCA26854469ABCA4c.4311G>A (p.Lys1437=)
c.687G>A (p.Lys229=)
 dbSNP gnomAD v4
1g.94030470T>ACA341285763ABCA4c.4310A>T (p.Lys1437Met)
c.686A>T (p.Lys229Met)
1g.94030470T>CCA341285767ABCA4c.4310A>G (p.Lys1437Arg)
c.686A>G (p.Lys229Arg)
1g.94030470T>GCA341285765ABCA4c.4310A>C (p.Lys1437Thr)
c.686A>C (p.Lys229Thr)
1g.94030471T>ACA341285769ABCA4c.4309A>T (p.Lys1437Ter)
c.685A>T (p.Lys229Ter)
 ClinVar dbSNP gnomAD v2
1g.94030471T>CCA341285771ABCA4c.4309A>G (p.Lys1437Glu)
c.685A>G (p.Lys229Glu)
1g.94030471T>GCA341285773ABCA4c.4309A>C (p.Lys1437Gln)
c.685A>C (p.Lys229Gln)
1g.94030471T=CA1181414931ABCA4c.4309A= (p.Lys1437=)
c.685A= (p.Lys229=)
1g.94030472A=CA1181414932ABCA4c.4308T= (p.Asn1436=)
c.684T= (p.Asn228=)
1g.94030472A>CCA341285775ABCA4c.4308T>G (p.Asn1436Lys)
c.684T>G (p.Asn228Lys)
1g.94030472A>GCA26854479ABCA4c.4308T>C (p.Asn1436=)
c.684T>C (p.Asn228=)
 dbSNP
1g.94030472A>TCA341285776ABCA4c.4308T>A (p.Asn1436Lys)
c.684T>A (p.Asn228Lys)
1g.94030473T>ACA341285778ABCA4c.4307A>T (p.Asn1436Ile)
c.683A>T (p.Asn228Ile)
 ClinVar gnomAD v4
1g.94030473T>CCA341285779ABCA4c.4307A>G (p.Asn1436Ser)
c.683A>G (p.Asn228Ser)
 dbSNP gnomAD v4
1g.94030473T>GCA341285781ABCA4c.4307A>C (p.Asn1436Thr)
c.683A>C (p.Asn228Thr)
1g.94030473T=CA1181414933ABCA4c.4307A= (p.Asn1436=)
c.683A= (p.Asn228=)
1g.94030474T>ACA341285782ABCA4c.4306A>T (p.Asn1436Tyr)
c.682A>T (p.Asn228Tyr)
1g.94030474T>CCA341285784ABCA4c.4306A>G (p.Asn1436Asp)
c.682A>G (p.Asn228Asp)
1g.94030474T>GCA341285785ABCA4c.4306A>C (p.Asn1436His)
c.682A>C (p.Asn228His)
1g.94030475C>ACA418824970ABCA4c.4305G>T (p.Leu1435=)
c.681G>T (p.Leu227=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030475C=CA1181414934ABCA4c.4305G= (p.Leu1435=)
c.681G= (p.Leu227=)
1g.94030475C>GCA418824971ABCA4c.4305G>C (p.Leu1435=)
c.681G>C (p.Leu227=)
1g.94030475C>TCA418824972ABCA4c.4305G>A (p.Leu1435=)
c.681G>A (p.Leu227=)
1g.94030476A>CCA341285788ABCA4c.4304T>G (p.Leu1435Arg)
c.680T>G (p.Leu227Arg)
1g.94030476A>GCA341285790ABCA4c.4304T>C (p.Leu1435Pro)
c.680T>C (p.Leu227Pro)
 gnomAD v4
1g.94030476A>TCA341285789ABCA4c.4304T>A (p.Leu1435Gln)
c.680T>A (p.Leu227Gln)
1g.94030477G>ACA418824973ABCA4c.4303C>T (p.Leu1435=)
c.679C>T (p.Leu227=)
1g.94030477G>CCA341285792ABCA4c.4303C>G (p.Leu1435Val)
c.679C>G (p.Leu227Val)
1g.94030477G>TCA341285793ABCA4c.4303C>A (p.Leu1435Met)
c.679C>A (p.Leu227Met)
1g.94030478G>ACA418824974ABCA4c.4302C>T (p.Leu1434=)
c.678C>T (p.Leu226=)
 dbSNP
1g.94030478G>CCA418824975ABCA4c.4302C>G (p.Leu1434=)
c.678C>G (p.Leu226=)
1g.94030478G=CA1181414935ABCA4c.4302C= (p.Leu1434=)
c.678C= (p.Leu226=)
1g.94030478G>TCA418824976ABCA4c.4302C>A (p.Leu1434=)
c.678C>A (p.Leu226=)
1g.94030479A>CCA341285795ABCA4c.4301T>G (p.Leu1434Arg)
c.677T>G (p.Leu226Arg)
1g.94030479A>GCA341285797ABCA4c.4301T>C (p.Leu1434Pro)
c.677T>C (p.Leu226Pro)
1g.94030479A>TCA341285799ABCA4c.4301T>A (p.Leu1434His)
c.677T>A (p.Leu226His)
1g.94030480G>ACA341285804ABCA4c.4300C>T (p.Leu1434Phe)
c.676C>T (p.Leu226Phe)
 gnomAD v4
1g.94030480G>CCA341285802ABCA4c.4300C>G (p.Leu1434Val)
c.676C>G (p.Leu226Val)
1g.94030480G>TCA341285801ABCA4c.4300C>A (p.Leu1434Ile)
c.676C>A (p.Leu226Ile)
1g.94030481G>ACA418824979ABCA4c.4299C>T (p.Val1433=)
c.675C>T (p.Val225=)
 gnomAD v4
1g.94030481G>CCA418824977ABCA4c.4299C>G (p.Val1433=)
c.675C>G (p.Val225=)
1g.94030481G>TCA418824978ABCA4c.4299C>A (p.Val1433=)
c.675C>A (p.Val225=)
 gnomAD v4
1g.94030482A>CCA341285806ABCA4c.4298T>G (p.Val1433Gly)
c.674T>G (p.Val225Gly)
1g.94030482A>GCA341285807ABCA4c.4298T>C (p.Val1433Ala)
c.674T>C (p.Val225Ala)
1g.94030482A>TCA341285809ABCA4c.4298T>A (p.Val1433Asp)
c.674T>A (p.Val225Asp)
1g.94030483C>ACA341285811ABCA4c.4297G>T (p.Val1433Phe)
c.673G>T (p.Val225Phe)
1g.94030483C=CA1140641775ABCA4c.4297G= (p.Val1433=)
c.673G= (p.Val225=)
1g.94030483C>GCA341285812ABCA4c.4297G>C (p.Val1433Leu)
c.673G>C (p.Val225Leu)
1g.94030483C>TCA227181ABCA4c.4297G>A (p.Val1433Ile)
c.673G>A (p.Val225Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.94030484G>ACA957656ABCA4c.4296C>T (p.Asp1432=)
c.672C>T (p.Asp224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030484G>CCA341285814ABCA4c.4296C>G (p.Asp1432Glu)
c.672C>G (p.Asp224Glu)
1g.94030484G=CA1143577641ABCA4c.4296C= (p.Asp1432=)
c.672C= (p.Asp224=)
1g.94030484G>TCA341285815ABCA4c.4296C>A (p.Asp1432Glu)
c.672C>A (p.Asp224Glu)
1g.94030485T>ACA341285818ABCA4c.4295A>T (p.Asp1432Val)
c.671A>T (p.Asp224Val)
1g.94030485T>CCA341285819ABCA4c.4295A>G (p.Asp1432Gly)
c.671A>G (p.Asp224Gly)
 gnomAD v4
1g.94030485T>GCA341285821ABCA4c.4295A>C (p.Asp1432Ala)
c.671A>C (p.Asp224Ala)
1g.94030486C>ACA341285822ABCA4c.4294G>T (p.Asp1432Tyr)
c.670G>T (p.Asp224Tyr)
1g.94030486C>GCA341285823ABCA4c.4294G>C (p.Asp1432His)
c.670G>C (p.Asp224His)
1g.94030486C>TCA341285824ABCA4c.4294G>A (p.Asp1432Asn)
c.670G>A (p.Asp224Asn)
1g.94030486_94030492delCA2586966884ABCA4c.4288_4294del (p.Leu1430ThrfsTer4)
c.664_670del (p.Leu222ThrfsTer4)
1g.94030487T>ACA418824980ABCA4c.4293A>T (p.Ala1431=)
c.669A>T (p.Ala223=)
1g.94030487T>CCA418824981ABCA4c.4293A>G (p.Ala1431=)
c.669A>G (p.Ala223=)
1g.94030487T>GCA418824982ABCA4c.4293A>C (p.Ala1431=)
c.669A>C (p.Ala223=)
1g.94030488G>ACA341285825ABCA4c.4292C>T (p.Ala1431Val)
c.668C>T (p.Ala223Val)
1g.94030488G>CCA341285827ABCA4c.4292C>G (p.Ala1431Gly)
c.668C>G (p.Ala223Gly)
1g.94030488G>TCA341285828ABCA4c.4292C>A (p.Ala1431Glu)
c.668C>A (p.Ala223Glu)
1g.94030489C>ACA341285830ABCA4c.4291G>T (p.Ala1431Ser)
c.667G>T (p.Ala223Ser)
 gnomAD v4
1g.94030489C>GCA341285831ABCA4c.4291G>C (p.Ala1431Pro)
c.667G>C (p.Ala223Pro)
1g.94030489C>TCA341285833ABCA4c.4291G>A (p.Ala1431Thr)
c.667G>A (p.Ala223Thr)
1g.94030489_94030490delinsCACA1181414936ABCA4c.4290_4291delinsTG (p.Leu1430=)
c.666_667delinsTG (p.Leu222=)
1g.94030490A>CCA418824984ABCA4c.4290T>G (p.Leu1430=)
c.666T>G (p.Leu222=)
1g.94030490A>GCA418824985ABCA4c.4290T>C (p.Leu1430=)
c.666T>C (p.Leu222=)
1g.94030490A>TCA418824983ABCA4c.4290T>A (p.Leu1430=)
c.666T>A (p.Leu222=)
1g.94030490_94030491delinsAACA1148243425ABCA4c.4289_4290delinsTT (p.Leu1430=)
c.665_666delinsTT (p.Leu222=)
1g.94030491delCA957657ABCA4c.4290del (p.Ala1431GlnfsTer5)
c.666del (p.Ala223GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030491A=CA1181414937ABCA4c.4289T= (p.Leu1430=)
c.665T= (p.Leu222=)
1g.94030491A>CCA341285835ABCA4c.4289T>G (p.Leu1430Arg)
c.665T>G (p.Leu222Arg)
1g.94030491A>GCA341285838ABCA4c.4289T>C (p.Leu1430Pro)
c.665T>C (p.Leu222Pro)
 dbSNP
1g.94030491A>TCA341285836ABCA4c.4289T>A (p.Leu1430His)
c.665T>A (p.Leu222His)
 dbSNP
1g.94030492G>ACA957658ABCA4c.4288C>T (p.Leu1430Phe)
c.664C>T (p.Leu222Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030492G>CCA341285840ABCA4c.4288C>G (p.Leu1430Val)
c.664C>G (p.Leu222Val)
 gnomAD v4
1g.94030492G=CA1144753986ABCA4c.4288C= (p.Leu1430=)
c.664C= (p.Leu222=)
1g.94030492G>TCA341285842ABCA4c.4288C>A (p.Leu1430Ile)
c.664C>A (p.Leu222Ile)
1g.94030493T>ACA418824986ABCA4c.4287A>T (p.Val1429=)
c.663A>T (p.Val221=)
1g.94030493T>CCA418824987ABCA4c.4287A>G (p.Val1429=)
c.663A>G (p.Val221=)
1g.94030493T>GCA418824988ABCA4c.4287A>C (p.Val1429=)
c.663A>C (p.Val221=)
1g.94030494A=CA1140726163ABCA4c.4286T= (p.Val1429=)
c.662T= (p.Val221=)
1g.94030494A>CCA341285843ABCA4c.4286T>G (p.Val1429Gly)
c.662T>G (p.Val221Gly)
1g.94030494A>GCA227178ABCA4c.4286T>C (p.Val1429Ala)
c.662T>C (p.Val221Ala)
 ClinVar dbSNP
1g.94030494A>TCA341285845ABCA4c.4286T>A (p.Val1429Glu)
c.662T>A (p.Val221Glu)
1g.94030495C>ACA341285847ABCA4c.4285G>T (p.Val1429Leu)
c.661G>T (p.Val221Leu)
1g.94030495C=CA1181414938ABCA4c.4285G= (p.Val1429=)
c.661G= (p.Val221=)
1g.94030495C>GCA341285849ABCA4c.4285G>C (p.Val1429Leu)
c.661G>C (p.Val221Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.94030495C>TCA341285851ABCA4c.4285G>A (p.Val1429Ile)
c.661G>A (p.Val221Ile)
 gnomAD v4
1g.94030496C>ACA418824989ABCA4c.4284G>T (p.Thr1428=)
c.660G>T (p.Thr220=)
 dbSNP gnomAD v3 gnomAD v4
1g.94030496C=CA1142132832ABCA4c.4284G= (p.Thr1428=)
c.660G= (p.Thr220=)
1g.94030496C>GCA418824990ABCA4c.4284G>C (p.Thr1428=)
c.660G>C (p.Thr220=)
1g.94030496C>TCA957659ABCA4c.4284G>A (p.Thr1428=)
c.660G>A (p.Thr220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030497G>ACA202170ABCA4c.4283C>T (p.Thr1428Met)
c.659C>T (p.Thr220Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030497G>CCA341285854ABCA4c.4283C>G (p.Thr1428Arg)
c.659C>G (p.Thr220Arg)
1g.94030497G=CA1139894812ABCA4c.4283C= (p.Thr1428=)
c.659C= (p.Thr220=)
1g.94030497G>TCA341285855ABCA4c.4283C>A (p.Thr1428Lys)
c.659C>A (p.Thr220Lys)
1g.94030498T>ACA341285856ABCA4c.4282A>T (p.Thr1428Ser)
c.658A>T (p.Thr220Ser)
1g.94030498T>CCA341285859ABCA4c.4282A>G (p.Thr1428Ala)
c.658A>G (p.Thr220Ala)
1g.94030498T>GCA341285857ABCA4c.4282A>C (p.Thr1428Pro)
c.658A>C (p.Thr220Pro)
1g.94030499G>ACA418824991ABCA4c.4281C>T (p.Phe1427=)
c.657C>T (p.Phe219=)
1g.94030499G>CCA341285861ABCA4c.4281C>G (p.Phe1427Leu)
c.657C>G (p.Phe219Leu)
1g.94030499G>TCA341285863ABCA4c.4281C>A (p.Phe1427Leu)
c.657C>A (p.Phe219Leu)
1g.94030500A=CA1181414939ABCA4c.4280T= (p.Phe1427=)
c.656T= (p.Phe219=)
1g.94030500A>CCA341285864ABCA4c.4280T>G (p.Phe1427Cys)
c.656T>G (p.Phe219Cys)
1g.94030500A>GCA341285865ABCA4c.4280T>C (p.Phe1427Ser)
c.656T>C (p.Phe219Ser)
 dbSNP
1g.94030500A>TCA341285867ABCA4c.4280T>A (p.Phe1427Tyr)
c.656T>A (p.Phe219Tyr)
1g.94030501A>CCA341285868ABCA4c.4279T>G (p.Phe1427Val)
c.655T>G (p.Phe219Val)
1g.94030501A>GCA341285869ABCA4c.4279T>C (p.Phe1427Leu)
c.655T>C (p.Phe219Leu)
 gnomAD v4
1g.94030501A>TCA341285870ABCA4c.4279T>A (p.Phe1427Ile)
c.655T>A (p.Phe219Ile)
1g.94030502C>ACA341285871ABCA4c.4278G>T (p.Gln1426His)
c.654G>T (p.Gln218His)
1g.94030502C>GCA341285872ABCA4c.4278G>C (p.Gln1426His)
c.654G>C (p.Gln218His)
1g.94030502C>TCA418824992ABCA4c.4278G>A (p.Gln1426=)
c.654G>A (p.Gln218=)
1g.94030503T>ACA341285878ABCA4c.4277A>T (p.Gln1426Leu)
c.653A>T (p.Gln218Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030503T>CCA341285876ABCA4c.4277A>G (p.Gln1426Arg)
c.653A>G (p.Gln218Arg)
 gnomAD v4
1g.94030503T>GCA341285874ABCA4c.4277A>C (p.Gln1426Pro)
c.653A>C (p.Gln218Pro)
1g.94030503T=CA1181414940ABCA4c.4277A= (p.Gln1426=)
c.653A= (p.Gln218=)
1g.94030504G>ACA341285881ABCA4c.4276C>T (p.Gln1426Ter)
c.652C>T (p.Gln218Ter)
 gnomAD v4
1g.94030504G>CCA341285883ABCA4c.4276C>G (p.Gln1426Glu)
c.652C>G (p.Gln218Glu)
1g.94030504G>TCA341285882ABCA4c.4276C>A (p.Gln1426Lys)
c.652C>A (p.Gln218Lys)
1g.94030505C>ACA341285885ABCA4c.4275G>T (p.Glu1425Asp)
c.651G>T (p.Glu217Asp)
1g.94030505C>GCA341285886ABCA4c.4275G>C (p.Glu1425Asp)
c.651G>C (p.Glu217Asp)
1g.94030505C>TCA418824993ABCA4c.4275G>A (p.Glu1425=)
c.651G>A (p.Glu217=)
1g.94030506T>ACA341285887ABCA4c.4274A>T (p.Glu1425Val)
c.650A>T (p.Glu217Val)
1g.94030506T>CCA341285889ABCA4c.4274A>G (p.Glu1425Gly)
c.650A>G (p.Glu217Gly)
1g.94030506T>GCA341285891ABCA4c.4274A>C (p.Glu1425Ala)
c.650A>C (p.Glu217Ala)
1g.94030507C>ACA341285893ABCA4c.4273G>T (p.Glu1425Ter)
c.649G>T (p.Glu217Ter)
1g.94030507C>GCA341285894ABCA4c.4273G>C (p.Glu1425Gln)
c.649G>C (p.Glu217Gln)
1g.94030507C>TCA341285896ABCA4c.4273G>A (p.Glu1425Lys)
c.649G>A (p.Glu217Lys)
1g.94030508A>CCA341285898ABCA4c.4272T>G (p.Ser1424Arg)
c.648T>G (p.Ser216Arg)
1g.94030508A>GCA418824994ABCA4c.4272T>C (p.Ser1424=)
c.648T>C (p.Ser216=)
1g.94030508A>TCA341285899ABCA4c.4272T>A (p.Ser1424Arg)
c.648T>A (p.Ser216Arg)
1g.94030509C>ACA957660ABCA4c.4271G>T (p.Ser1424Ile)
c.647G>T (p.Ser216Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030509C=CA1181414941ABCA4c.4271G= (p.Ser1424=)
c.647G= (p.Ser216=)
1g.94030509C>GCA341285902ABCA4c.4271G>C (p.Ser1424Thr)
c.647G>C (p.Ser216Thr)
1g.94030509C>TCA341285903ABCA4c.4271G>A (p.Ser1424Asn)
c.647G>A (p.Ser216Asn)
 dbSNP
1g.94030510T>ACA957661ABCA4c.4270A>T (p.Ser1424Cys)
c.646A>T (p.Ser216Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.94030510T>CCA341285907ABCA4c.4270A>G (p.Ser1424Gly)
c.646A>G (p.Ser216Gly)
1g.94030510T>GCA341285906ABCA4c.4270A>C (p.Ser1424Arg)
c.646A>C (p.Ser216Arg)
1g.94030510T=CA1181414942ABCA4c.4270A= (p.Ser1424=)
c.646A= (p.Ser216=)
1g.94030511G>ACA957662ABCA4c.4269C>T (p.Gly1423=)
c.645C>T (p.Gly215=)
 ClinVar dbSNP ExAC
1g.94030511G>CCA418824996ABCA4c.4269C>G (p.Gly1423=)
c.645C>G (p.Gly215=)
 gnomAD v4
1g.94030511G=CA1181414943ABCA4c.4269C= (p.Gly1423=)
c.645C= (p.Gly215=)
1g.94030511G>TCA418824995ABCA4c.4269C>A (p.Gly1423=)
c.645C>A (p.Gly215=)
1g.94030512C>ACA341285909ABCA4c.4268G>T (p.Gly1423Val)
c.644G>T (p.Gly215Val)
1g.94030512C>GCA341285911ABCA4c.4268G>C (p.Gly1423Ala)
c.644G>C (p.Gly215Ala)
1g.94030512C>TCA341285912ABCA4c.4268G>A (p.Gly1423Asp)
c.644G>A (p.Gly215Asp)
 ClinVar dbSNP
1g.94030513C>ACA341285914ABCA4c.4267G>T (p.Gly1423Cys)
c.643G>T (p.Gly215Cys)
1g.94030513C>GCA341285916ABCA4c.4267G>C (p.Gly1423Arg)
c.643G>C (p.Gly215Arg)
1g.94030513C>TCA341285917ABCA4c.4267G>A (p.Gly1423Ser)
c.643G>A (p.Gly215Ser)
1g.94030514T>ACA418824997ABCA4c.4266A>T (p.Pro1422=)
c.642A>T (p.Pro214=)
1g.94030514T>CCA418824998ABCA4c.4266A>G (p.Pro1422=)
c.642A>G (p.Pro214=)
 dbSNP gnomAD v4
1g.94030514T>GCA418824999ABCA4c.4266A>C (p.Pro1422=)
c.642A>C (p.Pro214=)
1g.94030514T=CA1181414944ABCA4c.4266A= (p.Pro1422=)
c.642A= (p.Pro214=)
1g.94030515_94030518dupCA2580063371ABCA4c.4263_4266dup (p.Gly1423ThrfsTer4)
c.639_642dup (p.Gly215ThrfsTer4)
 ClinVar
1g.94030515G>ACA341285919ABCA4c.4265C>T (p.Pro1422Leu)
c.641C>T (p.Pro214Leu)
1g.94030515G>CCA341285921ABCA4c.4265C>G (p.Pro1422Arg)
c.641C>G (p.Pro214Arg)
 ClinVar
1g.94030515G=CA1181414945ABCA4c.4265C= (p.Pro1422=)
c.641C= (p.Pro214=)
1g.94030515G>TCA341285923ABCA4c.4265C>A (p.Pro1422Gln)
c.641C>A (p.Pro214Gln)
 dbSNP gnomAD v2 gnomAD v4
1g.94030516G>ACA341285927ABCA4c.4264C>T (p.Pro1422Ser)
c.640C>T (p.Pro214Ser)
 ClinVar dbSNP
1g.94030516G>CCA341285926ABCA4c.4264C>G (p.Pro1422Ala)
c.640C>G (p.Pro214Ala)
1g.94030516G>TCA341285924ABCA4c.4264C>A (p.Pro1422Thr)
c.640C>A (p.Pro214Thr)
1g.94030517T>ACA341285930ABCA4c.4263A>T (p.Glu1421Asp)
c.639A>T (p.Glu213Asp)
1g.94030517T>CCA418825000ABCA4c.4263A>G (p.Glu1421=)
c.639A>G (p.Glu213=)
1g.94030517T>GCA341285929ABCA4c.4263A>C (p.Glu1421Asp)
c.639A>C (p.Glu213Asp)
1g.94030518T>ACA341285932ABCA4c.4262A>T (p.Glu1421Val)
c.638A>T (p.Glu213Val)
1g.94030518T>CCA341285933ABCA4c.4262A>G (p.Glu1421Gly)
c.638A>G (p.Glu213Gly)
1g.94030518T>GCA341285935ABCA4c.4262A>C (p.Glu1421Ala)
c.638A>C (p.Glu213Ala)
1g.94030519C>ACA341285936ABCA4c.4261G>T (p.Glu1421Ter)
c.637G>T (p.Glu213Ter)
1g.94030519C>GCA341285937ABCA4c.4261G>C (p.Glu1421Gln)
c.637G>C (p.Glu213Gln)
1g.94030519C>TCA341285938ABCA4c.4261G>A (p.Glu1421Lys)
c.637G>A (p.Glu213Lys)
 gnomAD v4
1g.94030522_94030544delCA645372199ABCA4c.4254-15_4261del
c.630-15_637del
1g.94030520A>CCA341285940ABCA4c.4260T>G (p.Asp1420Glu)
c.636T>G (p.Asp212Glu)
1g.94030520A>GCA418825001ABCA4c.4260T>C (p.Asp1420=)
c.636T>C (p.Asp212=)
 gnomAD v4
1g.94030520A>TCA341285941ABCA4c.4260T>A (p.Asp1420Glu)
c.636T>A (p.Asp212Glu)
1g.94030521T>ACA341285943ABCA4c.4259A>T (p.Asp1420Val)
c.635A>T (p.Asp212Val)
 gnomAD v4
1g.94030521T>CCA341285945ABCA4c.4259A>G (p.Asp1420Gly)
c.635A>G (p.Asp212Gly)
1g.94030521T>GCA341285946ABCA4c.4259A>C (p.Asp1420Ala)
c.635A>C (p.Asp212Ala)
1g.94030522C>ACA341285949ABCA4c.4258G>T (p.Asp1420Tyr)
c.634G>T (p.Asp212Tyr)
1g.94030522C>GCA341285951ABCA4c.4258G>C (p.Asp1420His)
c.634G>C (p.Asp212His)
 ClinVar
1g.94030522C>TCA341285948ABCA4c.4258G>A (p.Asp1420Asn)
c.634G>A (p.Asp212Asn)
1g.94030523C>ACA341285953ABCA4c.4257G>T (p.Met1419Ile)
c.633G>T (p.Met211Ile)
1g.94030523C>GCA341285955ABCA4c.4257G>C (p.Met1419Ile)
c.633G>C (p.Met211Ile)
1g.94030523C>TCA341285957ABCA4c.4257G>A (p.Met1419Ile)
c.633G>A (p.Met211Ile)
1g.94030524A=CA1141881656ABCA4c.4256T= (p.Met1419=)
c.632T= (p.Met211=)
1g.94030524A>CCA341285958ABCA4c.4256T>G (p.Met1419Arg)
c.632T>G (p.Met211Arg)
1g.94030524A>GCA957663ABCA4c.4256T>C (p.Met1419Thr)
c.632T>C (p.Met211Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030524A>TCA341285960ABCA4c.4256T>A (p.Met1419Lys)
c.632T>A (p.Met211Lys)
1g.94030525T>ACA341285961ABCA4c.4255A>T (p.Met1419Leu)
c.631A>T (p.Met211Leu)
1g.94030525T>CCA341285964ABCA4c.4255A>G (p.Met1419Val)
c.631A>G (p.Met211Val)
 dbSNP gnomAD v3 gnomAD v4
1g.94030525T>GCA341285962ABCA4c.4255A>C (p.Met1419Leu)
c.631A>C (p.Met211Leu)
1g.94030525T=CA1181414946ABCA4c.4255A= (p.Met1419=)
c.631A= (p.Met211=)
1g.94030526G>ACA418825002ABCA4c.4254C>T (p.Ser1418=)
c.630C>T (p.Ser210=)
 dbSNP gnomAD v2
1g.94030526G>CCA341285965ABCA4c.4254C>G (p.Ser1418Arg)
c.630C>G (p.Ser210Arg)
1g.94030526G=CA1181414947ABCA4c.4254C= (p.Ser1418=)
c.630C= (p.Ser210=)
1g.94030526G>TCA341285967ABCA4c.4254C>A (p.Ser1418Arg)
c.630C>A (p.Ser210Arg)
1g.94030527C>ACA341285968ABCA4c.4254-1G>T (n.4254-1G>T)
c.630-1G>T (n.630-1G>T)
1g.94030527C=CA1181414948ABCA4c.4254-1G= (n.4254-1G=)
c.630-1G= (n.630-1G=)
1g.94030527C>GCA10602431ABCA4c.4254-1G>C (n.4254-1G>C)
c.630-1G>C (n.630-1G>C)
 ClinVar dbSNP gnomAD v4
1g.94030527C>TCA341285971ABCA4c.4254-1G>A (n.4254-1G>A)
c.630-1G>A (n.630-1G>A)
 ClinVar dbSNP
1g.94030528T>ACA341285975ABCA4c.4254-2A>T (n.4254-2A>T)
c.630-2A>T (n.630-2A>T)
1g.94030528T>CCA227175ABCA4c.4254-2A>G (n.4254-2A>G)
c.630-2A>G (n.630-2A>G)
 ClinVar dbSNP
1g.94030528T>GCA341285973ABCA4c.4254-2A>C (n.4254-2A>C)
c.630-2A>C (n.630-2A>C)
1g.94030528T=CA1140726165ABCA4c.4254-2A= (n.4254-2A=)
c.630-2A= (n.630-2A=)
1g.94030531A=CA1181414949ABCA4c.4254-5T= (n.4254-5T=)
c.630-5T= (n.630-5T=)
1g.94030531A>CCA10606898ABCA4c.4254-5T>G (n.4254-5T>G)
c.630-5T>G (n.630-5T>G)
 ClinVar dbSNP
1g.94030531A>TCA2574438365ABCA4c.4254-5T>A (n.4254-5T>A)
c.630-5T>A (n.630-5T>A)
 ClinVar gnomAD v4
1g.94030535A=CA1181414950ABCA4c.4254-9T= (n.4254-9T=)
c.630-9T= (n.630-9T=)
1g.94030535A>GCA26854528ABCA4c.4254-9T>C (n.4254-9T>C)
c.630-9T>C (n.630-9T>C)
 dbSNP gnomAD v4
1g.94030536G>ACA2646649287ABCA4c.4254-10C>T (n.4254-10C>T)
c.630-10C>T (n.630-10C>T)
 gnomAD v4
1g.94030537T>CCA1181414952ABCA4c.4254-11A>G (n.4254-11A>G)
c.630-11A>G (n.630-11A>G)
 dbSNP
1g.94030537T=CA1181414951ABCA4c.4254-11A= (n.4254-11A=)
c.630-11A= (n.630-11A=)
1g.94030538G>ACA2574438366ABCA4c.4254-12C>T (n.4254-12C>T)
c.630-12C>T (n.630-12C>T)
 ClinVar
1g.94030538dupCA524383986ABCA4c.4254-12dup (n.4254-12dup)
c.630-12dup (n.630-12dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030541_94030542insTATGTGACTGGGACAGAGCGAGACA2646649288ABCA4c.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC (n.4254-12_4254-11insGCTCTGTCCCAGTCACATATCTC)
c.630-12_630-11insGCTCTGTCCCAGTCACATATCTC (n.630-12_630-11insGCTCTGTCCCAGTCACATATCTC)
 gnomAD v4
1g.94030538_94030560dupCA1181414953ABCA4c.4254-34_4254-12dup (n.4254-34_4254-12dup)
c.630-34_630-12dup (n.630-34_630-12dup)
 dbSNP
1g.94030540G>TCA2646649289ABCA4c.4254-14C>A (n.4254-14C>A)
c.630-14C>A (n.630-14C>A)
 gnomAD v4
1g.94030541_94030563delCA2586966887ABCA4c.4254-36_4254-14del (n.4254-36_4254-14del)
c.630-36_630-14del (n.630-36_630-14del)
1g.94030542C=CA1181414954ABCA4c.4254-16G= (n.4254-16G=)
c.630-16G= (n.630-16G=)
1g.94030542C>TCA1181414955ABCA4c.4254-16G>A (n.4254-16G>A)
c.630-16G>A (n.630-16G>A)
 dbSNP
1g.94030543A>TCA2646649290ABCA4c.4254-17T>A (n.4254-17T>A)
c.630-17T>A (n.630-17T>A)
 gnomAD v4
1g.94030544T>ACA2646649291ABCA4c.4254-18A>T (n.4254-18A>T)
c.630-18A>T (n.630-18A>T)
 gnomAD v4
1g.94030544T>CCA26854529ABCA4c.4254-18A>G (n.4254-18A>G)
c.630-18A>G (n.630-18A>G)
 dbSNP
1g.94030544T=CA1181414956ABCA4c.4254-18A= (n.4254-18A=)
c.630-18A= (n.630-18A=)
1g.94030545G>ACA2739272649ABCA4c.4254-19C>T (n.4254-19C>T)
c.630-19C>T (n.630-19C>T)
 ClinVar
1g.94030546T>ACA2646649292ABCA4c.4254-20A>T (n.4254-20A>T)
c.630-20A>T (n.630-20A>T)
 gnomAD v4
1g.94030547G>CCA2646649293ABCA4c.4254-21C>G (n.4254-21C>G)
c.630-21C>G (n.630-21C>G)
 gnomAD v4
1g.94030547G>TCA2646649294ABCA4c.4254-21C>A (n.4254-21C>A)
c.630-21C>A (n.630-21C>A)
 gnomAD v4
1g.94030548A>GCA2574438367ABCA4c.4254-22T>C (n.4254-22T>C)
c.630-22T>C (n.630-22T>C)
 gnomAD v4
1g.94030549C=CA1181414957ABCA4c.4254-23G= (n.4254-23G=)
c.630-23G= (n.630-23G=)
1g.94030549C>GCA524383987ABCA4c.4254-23G>C (n.4254-23G>C)
c.630-23G>C (n.630-23G>C)
 dbSNP gnomAD v2
1g.94030549C>TCA1181414958ABCA4c.4254-23G>A (n.4254-23G>A)
c.630-23G>A (n.630-23G>A)
 dbSNP gnomAD v4
1g.94030550_94030551delinsTGCA1181414959ABCA4c.4254-25_4254-24delinsCA (n.4254-25_4254-24delinsCA)
c.630-25_630-24delinsCA (n.630-25_630-24delinsCA)
1g.94030553delCA524383988ABCA4c.4254-25del (n.4254-25del)
c.630-25del (n.630-25del)
 dbSNP gnomAD v2 gnomAD v4
1g.94030552G>ACA524383989ABCA4c.4254-26C>T (n.4254-26C>T)
c.630-26C>T (n.630-26C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.94030552G=CA1181414960ABCA4c.4254-26C= (n.4254-26C=)
c.630-26C= (n.630-26C=)
1g.94030552G>TCA2646649295ABCA4c.4254-26C>A (n.4254-26C>A)
c.630-26C>A (n.630-26C>A)
 gnomAD v4
1g.94030552_94030553insACTCCA2744616527ABCA4c.4254-27_4254-26insGAGT (n.4254-27_4254-26insGAGT)
c.630-27_630-26insGAGT (n.630-27_630-26insGAGT)
1g.94030553G>ACA2646649296ABCA4c.4254-27C>T (n.4254-27C>T)
c.630-27C>T (n.630-27C>T)
 gnomAD v4
1g.94030553G>CCA26854538ABCA4c.4254-27C>G (n.4254-27C>G)
c.630-27C>G (n.630-27C>G)
 dbSNP
1g.94030553G=CA1181414961ABCA4c.4254-27C= (n.4254-27C=)
c.630-27C= (n.630-27C=)
1g.94030553G>TCA2574438368ABCA4c.4254-27C>A (n.4254-27C>A)
c.630-27C>A (n.630-27C>A)
1g.94030555C=CA1181414963ABCA4c.4254-29G= (n.4254-29G=)
c.630-29G= (n.630-29G=)
1g.94030555C>TCA1181414962ABCA4c.4254-29G>A (n.4254-29G>A)
c.630-29G>A (n.630-29G>A)
 dbSNP gnomAD v4
1g.94030557G>CCA524383990ABCA4c.4254-31C>G (n.4254-31C>G)
c.630-31C>G (n.630-31C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.94030557G=CA1181414964ABCA4c.4254-31C= (n.4254-31C=)
c.630-31C= (n.630-31C=)
1g.94030557G>TCA2646649297ABCA4c.4254-31C>A (n.4254-31C>A)
c.630-31C>A (n.630-31C>A)
 gnomAD v4
1g.94030559G>ACA2574438369ABCA4c.4254-33C>T (n.4254-33C>T)
c.630-33C>T (n.630-33C>T)
1g.94030560C>TCA2646649298ABCA4c.4254-34G>A (n.4254-34G>A)
c.630-34G>A (n.630-34G>A)
 gnomAD v4
1g.94030563G>ACA2574438370ABCA4c.4254-37C>T (n.4254-37C>T)
c.630-37C>T (n.630-37C>T)
 gnomAD v4
1g.94030564C>ACA2646649299ABCA4c.4254-38G>T (n.4254-38G>T)
c.630-38G>T (n.630-38G>T)
 gnomAD v4
1g.94030564C=CA1140461261ABCA4c.4254-38G= (n.4254-38G=)
c.630-38G= (n.630-38G=)
1g.94030564C>TCA227176ABCA4c.4254-38G>A (n.4254-38G>A)
c.630-38G>A (n.630-38G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030565G>ACA957664ABCA4c.4254-39C>T (n.4254-39C>T)
c.630-39C>T (n.630-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030565G=CA1143849317ABCA4c.4254-39C= (n.4254-39C=)
c.630-39C= (n.630-39C=)
1g.94030565G>TCA2574438371ABCA4c.4254-39C>A (n.4254-39C>A)
c.630-39C>A (n.630-39C>A)
 gnomAD v4
1g.94030566C=CA1142722690ABCA4c.4254-40G= (n.4254-40G=)
c.630-40G= (n.630-40G=)
1g.94030566C>GCA957666ABCA4c.4254-40G>C (n.4254-40G>C)
c.630-40G>C (n.630-40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030566C>TCA957665ABCA4c.4254-40G>A (n.4254-40G>A)
c.630-40G>A (n.630-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030566_94030567insACA2744616530ABCA4c.4254-41_4254-40insT (n.4254-41_4254-40insT)
c.630-41_630-40insT (n.630-41_630-40insT)
1g.94030566_94030567insACAGCA2744616528ABCA4c.4254-41_4254-40insCTGT (n.4254-41_4254-40insCTGT)
c.630-41_630-40insCTGT (n.630-41_630-40insCTGT)
1g.94030567delCA2744616529ABCA4c.4254-41del (n.4254-41del)
c.630-41del (n.630-41del)
1g.94030567G>ACA957667ABCA4c.4254-41C>T (n.4254-41C>T)
c.630-41C>T (n.630-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94030567G=CA1181414965ABCA4c.4254-41C= (n.4254-41C=)
c.630-41C= (n.630-41C=)
1g.94030567G>TCA2646649300ABCA4c.4254-41C>A (n.4254-41C>A)
c.630-41C>A (n.630-41C>A)
 gnomAD v4
1g.94030567_94030568insGGCA524383991ABCA4c.4254-41_4254-40insCC (n.4254-41_4254-40insCC)
c.630-41_630-40insCC (n.630-41_630-40insCC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched