Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94046943T>ACA341275330ABCA4c.2894A>T (p.Asn965Ile)
c.2672A>T (p.Asn891Ile)
c.-64-6854A>T (n.-64-6854A>T)
1g.94046943T>CCA958124ABCA4c.2894A>G (p.Asn965Ser)
c.2672A>G (p.Asn891Ser)
c.-64-6854A>G (n.-64-6854A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046943T>GCA341275331ABCA4c.2894A>C (p.Asn965Thr)
c.2672A>C (p.Asn891Thr)
c.-64-6854A>C (n.-64-6854A>C)
1g.94046943T=CA1143484971ABCA4c.2894A= (p.Asn965=)
c.2672A= (p.Asn891=)
c.-64-6854A= (n.-64-6854A=)
1g.94046944T>ACA341275332ABCA4c.2893A>T (p.Asn965Tyr)
c.2671A>T (p.Asn891Tyr)
c.-64-6855A>T (n.-64-6855A>T)
 dbSNP
1g.94046944T>CCA227048ABCA4c.2893A>G (p.Asn965Asp)
c.2671A>G (p.Asn891Asp)
c.-64-6855A>G (n.-64-6855A>G)
 ClinVar dbSNP
1g.94046944T>GCA341275333ABCA4c.2893A>C (p.Asn965His)
c.2671A>C (p.Asn891His)
c.-64-6855A>C (n.-64-6855A>C)
1g.94046944T=CA1140725900ABCA4c.2893A= (p.Asn965=)
c.2671A= (p.Asn891=)
c.-64-6855A= (n.-64-6855A=)
1g.94046945G>ACA418811450ABCA4c.2892C>T (p.His964=)
c.2670C>T (p.His890=)
c.-64-6856C>T (n.-64-6856C>T)
1g.94046945G>CCA341275334ABCA4c.2892C>G (p.His964Gln)
c.2670C>G (p.His890Gln)
c.-64-6856C>G (n.-64-6856C>G)
1g.94046945G>TCA341275335ABCA4c.2892C>A (p.His964Gln)
c.2670C>A (p.His890Gln)
c.-64-6856C>A (n.-64-6856C>A)
1g.94046945_94046946delinsGTCA1181422590ABCA4c.2891_2892delinsAC (p.His964=)
c.2669_2670delinsAC (p.His890=)
c.-64-6857_-64-6856delinsAC (n.-64-6857_-64-6856delinsAC)
1g.94046946delCA958125ABCA4c.2891del (p.His964ProfsTer13)
c.2669del (p.His890ProfsTer26)
c.-64-6857del (n.-64-6857del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046946T>ACA341275336ABCA4c.2891A>T (p.His964Leu)
c.2669A>T (p.His890Leu)
c.-64-6857A>T (n.-64-6857A>T)
1g.94046946T>CCA341275337ABCA4c.2891A>G (p.His964Arg)
c.2669A>G (p.His890Arg)
c.-64-6857A>G (n.-64-6857A>G)
 gnomAD v4
1g.94046946T>GCA341275338ABCA4c.2891A>C (p.His964Pro)
c.2669A>C (p.His890Pro)
c.-64-6857A>C (n.-64-6857A>C)
1g.94046947G>ACA341275339ABCA4c.2890C>T (p.His964Tyr)
c.2668C>T (p.His890Tyr)
c.-64-6858C>T (n.-64-6858C>T)
 gnomAD v4
1g.94046947G>CCA341275340ABCA4c.2890C>G (p.His964Asp)
c.2668C>G (p.His890Asp)
c.-64-6858C>G (n.-64-6858C>G)
1g.94046947G>TCA341275341ABCA4c.2890C>A (p.His964Asn)
c.2668C>A (p.His890Asn)
c.-64-6858C>A (n.-64-6858C>A)
1g.94046947_94046949dupCA2646650035ABCA4c.2888_2890dup (p.Gly963_His964insArg)
c.2666_2668dup (p.Gly889_His890insArg)
c.-64-6860_-64-6858dup (n.-64-6860_-64-6858dup)
 gnomAD v4
1g.94046948G>ACA418811466ABCA4c.2889C>T (p.Gly963=)
c.2667C>T (p.Gly889=)
c.-64-6859C>T (n.-64-6859C>T)
 ClinVar dbSNP gnomAD v4
1g.94046948G>CCA418811470ABCA4c.2889C>G (p.Gly963=)
c.2667C>G (p.Gly889=)
c.-64-6859C>G (n.-64-6859C>G)
1g.94046948G=CA1181422591ABCA4c.2889C= (p.Gly963=)
c.2667C= (p.Gly889=)
c.-64-6859C= (n.-64-6859C=)
1g.94046948G>TCA418811468ABCA4c.2889C>A (p.Gly963=)
c.2667C>A (p.Gly889=)
c.-64-6859C>A (n.-64-6859C>A)
1g.94046948_94046949delinsGCCA1181422592ABCA4c.2888_2889delinsGC (p.Gly963=)
c.2666_2667delinsGC (p.Gly889=)
c.-64-6860_-64-6859delinsGC (n.-64-6860_-64-6859delinsGC)
1g.94046949C>ACA341275342ABCA4c.2888G>T (p.Gly963Val)
c.2666G>T (p.Gly889Val)
c.-64-6860G>T (n.-64-6860G>T)
1g.94046949C>GCA341275343ABCA4c.2888G>C (p.Gly963Ala)
c.2666G>C (p.Gly889Ala)
c.-64-6860G>C (n.-64-6860G>C)
1g.94046949C>TCA341275344ABCA4c.2888G>A (p.Gly963Asp)
c.2666G>A (p.Gly889Asp)
c.-64-6860G>A (n.-64-6860G>A)
1g.94046949_94046951delinsCCCCA1140725902ABCA4c.2886_2888delinsGGG (p.Leu962=)
c.2664_2666delinsGGG (p.Leu888=)
c.-64-6862_-64-6860delinsGGG (n.-64-6862_-64-6860delinsGGG)
1g.94046951delCA119138ABCA4c.2888del (p.Gly963AlafsTer14)
c.2666del (p.Gly889AlafsTer27)
c.-64-6860del (n.-64-6860del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.94046950C>ACA341275347ABCA4c.2887G>T (p.Gly963Cys)
c.2665G>T (p.Gly889Cys)
c.-64-6861G>T (n.-64-6861G>T)
1g.94046950C=CA1181422593ABCA4c.2887G= (p.Gly963=)
c.2665G= (p.Gly889=)
c.-64-6861G= (n.-64-6861G=)
1g.94046950C>GCA341275345ABCA4c.2887G>C (p.Gly963Arg)
c.2665G>C (p.Gly889Arg)
c.-64-6861G>C (n.-64-6861G>C)
 ClinVar dbSNP
1g.94046950C>TCA341275346ABCA4c.2887G>A (p.Gly963Ser)
c.2665G>A (p.Gly889Ser)
c.-64-6861G>A (n.-64-6861G>A)
1g.94046951C>ACA418811490ABCA4c.2886G>T (p.Leu962=)
c.2664G>T (p.Leu888=)
c.-64-6862G>T (n.-64-6862G>T)
 gnomAD v4
1g.94046951C>GCA418811492ABCA4c.2886G>C (p.Leu962=)
c.2664G>C (p.Leu888=)
c.-64-6862G>C (n.-64-6862G>C)
1g.94046951C>TCA418811493ABCA4c.2886G>A (p.Leu962=)
c.2664G>A (p.Leu888=)
c.-64-6862G>A (n.-64-6862G>A)
 gnomAD v4
1g.94046952A>CCA341275348ABCA4c.2885T>G (p.Leu962Arg)
c.2663T>G (p.Leu888Arg)
c.-64-6863T>G (n.-64-6863T>G)
1g.94046952A>GCA341275349ABCA4c.2885T>C (p.Leu962Pro)
c.2663T>C (p.Leu888Pro)
c.-64-6863T>C (n.-64-6863T>C)
 gnomAD v4
1g.94046952A>TCA341275350ABCA4c.2885T>A (p.Leu962Gln)
c.2663T>A (p.Leu888Gln)
c.-64-6863T>A (n.-64-6863T>A)
1g.94046952_94046953delinsAGCA1181422594ABCA4c.2884_2885delinsCT (p.Leu962=)
c.2662_2663delinsCT (p.Leu888=)
c.-64-6864_-64-6863delinsCT (n.-64-6864_-64-6863delinsCT)
1g.94046953G>ACA958126ABCA4c.2884C>T (p.Leu962=)
c.2662C>T (p.Leu888=)
c.-64-6864C>T (n.-64-6864C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94046953G>CCA341275351ABCA4c.2884C>G (p.Leu962Val)
c.2662C>G (p.Leu888Val)
c.-64-6864C>G (n.-64-6864C>G)
1g.94046953G=CA1181422595ABCA4c.2884C= (p.Leu962=)
c.2662C= (p.Leu888=)
c.-64-6864C= (n.-64-6864C=)
1g.94046953G>TCA341275352ABCA4c.2884C>A (p.Leu962Met)
c.2662C>A (p.Leu888Met)
c.-64-6864C>A (n.-64-6864C>A)
1g.94046953_94046954delinsGGCA1140725904ABCA4c.2883_2884delinsCC (p.Phe961=)
c.2661_2662delinsCC (p.Phe887=)
c.-64-6865_-64-6864delinsCC (n.-64-6865_-64-6864delinsCC)
1g.94046954delCA227047ABCA4c.2884del (p.Leu962TrpfsTer15)
c.2662del (p.Leu888TrpfsTer28)
c.-64-6864del (n.-64-6864del)
 ClinVar dbSNP gnomAD v4
1g.94046954G>ACA418811512ABCA4c.2883C>T (p.Phe961=)
c.2661C>T (p.Phe887=)
c.-64-6865C>T (n.-64-6865C>T)
 COSMIC COSMIC
1g.94046954G>CCA341275353ABCA4c.2883C>G (p.Phe961Leu)
c.2661C>G (p.Phe887Leu)
c.-64-6865C>G (n.-64-6865C>G)
1g.94046954G>TCA341275354ABCA4c.2883C>A (p.Phe961Leu)
c.2661C>A (p.Phe887Leu)
c.-64-6865C>A (n.-64-6865C>A)

Number of alleles fetched