Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104884442_104884450delCA2691057518ABCA1c.279_287del (p.Val94_Asn96del)
c.99_107del (p.Val34_Asn36del)
c.354_362del (p.Val119_Asn121del)
c.-61-1293_-61-1285del (n.-61-1293_-61-1285del)
c.216_224del (p.Val73_Asn75del)
n.667_675del
 gnomAD v4
9g.104884443T>ACA374316175ABCA1c.286A>T (p.Asn96Tyr)
c.106A>T (p.Asn36Tyr)
c.361A>T (p.Asn121Tyr)
c.-61-1286A>T (n.-61-1286A>T)
c.223A>T (p.Asn75Tyr)
n.674A>T
 gnomAD v4
9g.104884443T>CCA374316176ABCA1c.286A>G (p.Asn96Asp)
c.106A>G (p.Asn36Asp)
c.361A>G (p.Asn121Asp)
c.-61-1286A>G (n.-61-1286A>G)
c.223A>G (p.Asn75Asp)
n.674A>G
9g.104884443T>GCA374316177ABCA1c.286A>C (p.Asn96His)
c.106A>C (p.Asn36His)
c.361A>C (p.Asn121His)
c.-61-1286A>C (n.-61-1286A>C)
c.223A>C (p.Asn75His)
n.674A>C
9g.104884444T>ACA466502255ABCA1c.285A>T (p.Gly95=)
c.105A>T (p.Gly35=)
c.360A>T (p.Gly120=)
c.-61-1287A>T (n.-61-1287A>T)
c.222A>T (p.Gly74=)
n.673A>T
9g.104884444T>CCA466502256ABCA1c.285A>G (p.Gly95=)
c.105A>G (p.Gly35=)
c.360A>G (p.Gly120=)
c.-61-1287A>G (n.-61-1287A>G)
c.222A>G (p.Gly74=)
n.673A>G
9g.104884444T>GCA466502257ABCA1c.285A>C (p.Gly95=)
c.105A>C (p.Gly35=)
c.360A>C (p.Gly120=)
c.-61-1287A>C (n.-61-1287A>C)
c.222A>C (p.Gly74=)
n.673A>C
9g.104884445C>ACA374316178ABCA1c.284G>T (p.Gly95Val)
c.104G>T (p.Gly35Val)
c.359G>T (p.Gly120Val)
c.-61-1288G>T (n.-61-1288G>T)
c.221G>T (p.Gly74Val)
n.672G>T
 dbSNP
9g.104884445C=CA1869947114ABCA1c.284G= (p.Gly95=)
c.104G= (p.Gly35=)
c.359G= (p.Gly120=)
c.-61-1288G= (n.-61-1288G=)
c.221G= (p.Gly74=)
n.672G=
9g.104884445C>GCA374316179ABCA1c.284G>C (p.Gly95Ala)
c.104G>C (p.Gly35Ala)
c.359G>C (p.Gly120Ala)
c.-61-1288G>C (n.-61-1288G>C)
c.221G>C (p.Gly74Ala)
n.672G>C
9g.104884445C>TCA374316180ABCA1c.284G>A (p.Gly95Glu)
c.104G>A (p.Gly35Glu)
c.359G>A (p.Gly120Glu)
c.-61-1288G>A (n.-61-1288G>A)
c.221G>A (p.Gly74Glu)
n.672G>A
9g.104884446C>ACA374316183ABCA1c.283G>T (p.Gly95Ter)
c.103G>T (p.Gly35Ter)
c.358G>T (p.Gly120Ter)
c.-61-1289G>T (n.-61-1289G>T)
c.220G>T (p.Gly74Ter)
n.671G>T
 dbSNP
9g.104884446C=CA1869947115ABCA1c.283G= (p.Gly95=)
c.103G= (p.Gly35=)
c.358G= (p.Gly120=)
c.-61-1289G= (n.-61-1289G=)
c.220G= (p.Gly74=)
n.671G=
9g.104884446C>GCA374316181ABCA1c.283G>C (p.Gly95Arg)
c.103G>C (p.Gly35Arg)
c.358G>C (p.Gly120Arg)
c.-61-1289G>C (n.-61-1289G>C)
c.220G>C (p.Gly74Arg)
n.671G>C
9g.104884446C>TCA374316182ABCA1c.283G>A (p.Gly95Arg)
c.103G>A (p.Gly35Arg)
c.358G>A (p.Gly120Arg)
c.-61-1289G>A (n.-61-1289G>A)
c.220G>A (p.Gly74Arg)
n.671G>A
9g.104884447A>CCA466502258ABCA1c.282T>G (p.Val94=)
c.102T>G (p.Val34=)
c.357T>G (p.Val119=)
c.-61-1290T>G (n.-61-1290T>G)
c.219T>G (p.Val73=)
n.670T>G
9g.104884447A>GCA466502259ABCA1c.282T>C (p.Val94=)
c.102T>C (p.Val34=)
c.357T>C (p.Val119=)
c.-61-1290T>C (n.-61-1290T>C)
c.219T>C (p.Val73=)
n.670T>C
9g.104884447A>TCA466502260ABCA1c.282T>A (p.Val94=)
c.102T>A (p.Val34=)
c.357T>A (p.Val119=)
c.-61-1290T>A (n.-61-1290T>A)
c.219T>A (p.Val73=)
n.670T>A
9g.104884448A>CCA374316184ABCA1c.281T>G (p.Val94Gly)
c.101T>G (p.Val34Gly)
c.356T>G (p.Val119Gly)
c.-61-1291T>G (n.-61-1291T>G)
c.218T>G (p.Val73Gly)
n.669T>G
9g.104884448A>GCA374316185ABCA1c.281T>C (p.Val94Ala)
c.101T>C (p.Val34Ala)
c.356T>C (p.Val119Ala)
c.-61-1291T>C (n.-61-1291T>C)
c.218T>C (p.Val73Ala)
n.669T>C
 gnomAD v4
9g.104884448A>TCA374316186ABCA1c.281T>A (p.Val94Asp)
c.101T>A (p.Val34Asp)
c.356T>A (p.Val119Asp)
c.-61-1291T>A (n.-61-1291T>A)
c.218T>A (p.Val73Asp)
n.669T>A
9g.104884449C>ACA374316187ABCA1c.280G>T (p.Val94Phe)
c.100G>T (p.Val34Phe)
c.355G>T (p.Val119Phe)
c.-61-1292G>T (n.-61-1292G>T)
c.217G>T (p.Val73Phe)
n.668G>T
 gnomAD v4
9g.104884449C>GCA374316188ABCA1c.280G>C (p.Val94Leu)
c.100G>C (p.Val34Leu)
c.355G>C (p.Val119Leu)
c.-61-1292G>C (n.-61-1292G>C)
c.217G>C (p.Val73Leu)
n.668G>C
9g.104884449C>TCA374316189ABCA1c.280G>A (p.Val94Ile)
c.100G>A (p.Val34Ile)
c.355G>A (p.Val119Ile)
c.-61-1292G>A (n.-61-1292G>A)
c.217G>A (p.Val73Ile)
n.668G>A
9g.104884450A>CCA466502263ABCA1c.279T>G (p.Val93=)
c.99T>G (p.Val33=)
c.354T>G (p.Val118=)
c.-61-1293T>G (n.-61-1293T>G)
c.216T>G (p.Val72=)
n.667T>G
9g.104884450A>GCA466502262ABCA1c.279T>C (p.Val93=)
c.99T>C (p.Val33=)
c.354T>C (p.Val118=)
c.-61-1293T>C (n.-61-1293T>C)
c.216T>C (p.Val72=)
n.667T>C
9g.104884450A>TCA466502264ABCA1c.279T>A (p.Val93=)
c.99T>A (p.Val33=)
c.354T>A (p.Val118=)
c.-61-1293T>A (n.-61-1293T>A)
c.216T>A (p.Val72=)
n.667T>A
9g.104884451A=CA1869947116ABCA1c.278T= (p.Val93=)
c.98T= (p.Val33=)
c.353T= (p.Val118=)
c.-61-1294T= (n.-61-1294T=)
c.215T= (p.Val72=)
n.666T=
9g.104884451A>CCA374316190ABCA1c.278T>G (p.Val93Gly)
c.98T>G (p.Val33Gly)
c.353T>G (p.Val118Gly)
c.-61-1294T>G (n.-61-1294T>G)
c.215T>G (p.Val72Gly)
n.666T>G
9g.104884451A>GCA374316191ABCA1c.278T>C (p.Val93Ala)
c.98T>C (p.Val33Ala)
c.353T>C (p.Val118Ala)
c.-61-1294T>C (n.-61-1294T>C)
c.215T>C (p.Val72Ala)
n.666T>C
 gnomAD v4
9g.104884451A>TCA197383221ABCA1c.278T>A (p.Val93Asp)
c.98T>A (p.Val33Asp)
c.353T>A (p.Val118Asp)
c.-61-1294T>A (n.-61-1294T>A)
c.215T>A (p.Val72Asp)
n.666T>A
 dbSNP
9g.104884452C>ACA374316192ABCA1c.277G>T (p.Val93Phe)
c.97G>T (p.Val33Phe)
c.352G>T (p.Val118Phe)
c.-61-1295G>T (n.-61-1295G>T)
c.214G>T (p.Val72Phe)
n.665G>T
 gnomAD v4 COSMIC COSMIC
9g.104884452C=CA1869947118ABCA1c.277G= (p.Val93=)
c.97G= (p.Val33=)
c.352G= (p.Val118=)
c.-61-1295G= (n.-61-1295G=)
c.214G= (p.Val72=)
n.665G=
9g.104884452C>GCA374316193ABCA1c.277G>C (p.Val93Leu)
c.97G>C (p.Val33Leu)
c.352G>C (p.Val118Leu)
c.-61-1295G>C (n.-61-1295G>C)
c.214G>C (p.Val72Leu)
n.665G>C
9g.104884452C>TCA374316194ABCA1c.277G>A (p.Val93Ile)
c.97G>A (p.Val33Ile)
c.352G>A (p.Val118Ile)
c.-61-1295G>A (n.-61-1295G>A)
c.214G>A (p.Val72Ile)
n.665G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104884453T>ACA466502265ABCA1c.276A>T (p.Gly92=)
c.96A>T (p.Gly32=)
c.351A>T (p.Gly117=)
c.-61-1296A>T (n.-61-1296A>T)
c.213A>T (p.Gly71=)
n.664A>T
9g.104884453T>CCA466502266ABCA1c.276A>G (p.Gly92=)
c.96A>G (p.Gly32=)
c.351A>G (p.Gly117=)
c.-61-1296A>G (n.-61-1296A>G)
c.213A>G (p.Gly71=)
n.664A>G
9g.104884453T>GCA466502267ABCA1c.276A>C (p.Gly92=)
c.96A>C (p.Gly32=)
c.351A>C (p.Gly117=)
c.-61-1296A>C (n.-61-1296A>C)
c.213A>C (p.Gly71=)
n.664A>C
 gnomAD v4
9g.104884454C>ACA374316195ABCA1c.275G>T (p.Gly92Val)
c.95G>T (p.Gly32Val)
c.350G>T (p.Gly117Val)
c.-61-1297G>T (n.-61-1297G>T)
c.212G>T (p.Gly71Val)
n.663G>T
9g.104884454C>GCA374316197ABCA1c.275G>C (p.Gly92Ala)
c.95G>C (p.Gly32Ala)
c.350G>C (p.Gly117Ala)
c.-61-1297G>C (n.-61-1297G>C)
c.212G>C (p.Gly71Ala)
n.663G>C
9g.104884454C>TCA374316196ABCA1c.275G>A (p.Gly92Glu)
c.95G>A (p.Gly32Glu)
c.350G>A (p.Gly117Glu)
c.-61-1297G>A (n.-61-1297G>A)
c.212G>A (p.Gly71Glu)
n.663G>A
 COSMIC COSMIC
9g.104884455C>ACA374316199ABCA1c.274G>T (p.Gly92Ter)
c.94G>T (p.Gly32Ter)
c.349G>T (p.Gly117Ter)
c.-61-1298G>T (n.-61-1298G>T)
c.211G>T (p.Gly71Ter)
n.662G>T
9g.104884455C=CA1869947122ABCA1c.274G= (p.Gly92=)
c.94G= (p.Gly32=)
c.349G= (p.Gly117=)
c.-61-1298G= (n.-61-1298G=)
c.211G= (p.Gly71=)
n.662G=
9g.104884455C>GCA374316203ABCA1c.274G>C (p.Gly92Arg)
c.94G>C (p.Gly32Arg)
c.349G>C (p.Gly117Arg)
c.-61-1298G>C (n.-61-1298G>C)
c.211G>C (p.Gly71Arg)
n.662G>C
9g.104884455C>TCA374316201ABCA1c.274G>A (p.Gly92Arg)
c.94G>A (p.Gly32Arg)
c.349G>A (p.Gly117Arg)
c.-61-1298G>A (n.-61-1298G>A)
c.211G>A (p.Gly71Arg)
n.662G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104884456G>ACA5169456ABCA1c.273C>T (p.Pro91=)
c.93C>T (p.Pro31=)
c.348C>T (p.Pro116=)
c.-61-1299C>T (n.-61-1299C>T)
c.210C>T (p.Pro70=)
n.661C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104884456G>CCA466502268ABCA1c.273C>G (p.Pro91=)
c.93C>G (p.Pro31=)
c.348C>G (p.Pro116=)
c.-61-1299C>G (n.-61-1299C>G)
c.210C>G (p.Pro70=)
n.661C>G
 gnomAD v4
9g.104884456G=CA1869947125ABCA1c.273C= (p.Pro91=)
c.93C= (p.Pro31=)
c.348C= (p.Pro116=)
c.-61-1299C= (n.-61-1299C=)
c.210C= (p.Pro70=)
n.661C=
9g.104884456G>TCA466502269ABCA1c.273C>A (p.Pro91=)
c.93C>A (p.Pro31=)
c.348C>A (p.Pro116=)
c.-61-1299C>A (n.-61-1299C>A)
c.210C>A (p.Pro70=)
n.661C>A
9g.104884457G>ACA374316207ABCA1c.272C>T (p.Pro91Leu)
c.92C>T (p.Pro31Leu)
c.347C>T (p.Pro116Leu)
c.-61-1300C>T (n.-61-1300C>T)
c.209C>T (p.Pro70Leu)
n.660C>T
9g.104884457G>CCA374316209ABCA1c.272C>G (p.Pro91Arg)
c.92C>G (p.Pro31Arg)
c.347C>G (p.Pro116Arg)
c.-61-1300C>G (n.-61-1300C>G)
c.209C>G (p.Pro70Arg)
n.660C>G
9g.104884457G>TCA374316211ABCA1c.272C>A (p.Pro91His)
c.92C>A (p.Pro31His)
c.347C>A (p.Pro116His)
c.-61-1300C>A (n.-61-1300C>A)
c.209C>A (p.Pro70His)
n.660C>A
9g.104884458G>ACA374316214ABCA1c.271C>T (p.Pro91Ser)
c.91C>T (p.Pro31Ser)
c.346C>T (p.Pro116Ser)
c.-61-1301C>T (n.-61-1301C>T)
c.208C>T (p.Pro70Ser)
n.659C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.104884458G>CCA374316217ABCA1c.271C>G (p.Pro91Ala)
c.91C>G (p.Pro31Ala)
c.346C>G (p.Pro116Ala)
c.-61-1301C>G (n.-61-1301C>G)
c.208C>G (p.Pro70Ala)
n.659C>G
9g.104884458G=CA1869947139ABCA1c.271C= (p.Pro91=)
c.91C= (p.Pro31=)
c.346C= (p.Pro116=)
c.-61-1301C= (n.-61-1301C=)
c.208C= (p.Pro70=)
n.659C=
9g.104884458G>TCA374316219ABCA1c.271C>A (p.Pro91Thr)
c.91C>A (p.Pro31Thr)
c.346C>A (p.Pro116Thr)
c.-61-1301C>A (n.-61-1301C>A)
c.208C>A (p.Pro70Thr)
n.659C>A
9g.104884459A>CCA466502270ABCA1c.270T>G (p.Ala90=)
c.90T>G (p.Ala30=)
c.345T>G (p.Ala115=)
c.-61-1302T>G (n.-61-1302T>G)
c.207T>G (p.Ala69=)
n.658T>G
9g.104884459A>GCA466502271ABCA1c.270T>C (p.Ala90=)
c.90T>C (p.Ala30=)
c.345T>C (p.Ala115=)
c.-61-1302T>C (n.-61-1302T>C)
c.207T>C (p.Ala69=)
n.658T>C
9g.104884459A>TCA466502272ABCA1c.270T>A (p.Ala90=)
c.90T>A (p.Ala30=)
c.345T>A (p.Ala115=)
c.-61-1302T>A (n.-61-1302T>A)
c.207T>A (p.Ala69=)
n.658T>A
9g.104884460G>ACA374316222ABCA1c.269C>T (p.Ala90Val)
c.89C>T (p.Ala30Val)
c.344C>T (p.Ala115Val)
c.-61-1303C>T (n.-61-1303C>T)
c.206C>T (p.Ala69Val)
n.657C>T
 gnomAD v4
9g.104884460G>CCA374316224ABCA1c.269C>G (p.Ala90Gly)
c.89C>G (p.Ala30Gly)
c.344C>G (p.Ala115Gly)
c.-61-1303C>G (n.-61-1303C>G)
c.206C>G (p.Ala69Gly)
n.657C>G
9g.104884460G>TCA374316226ABCA1c.269C>A (p.Ala90Asp)
c.89C>A (p.Ala30Asp)
c.344C>A (p.Ala115Asp)
c.-61-1303C>A (n.-61-1303C>A)
c.206C>A (p.Ala69Asp)
n.657C>A
9g.104884460_104884461delinsGCCA1869947140ABCA1c.268_269delinsGC (p.Ala90=)
c.88_89delinsGC (p.Ala30=)
c.343_344delinsGC (p.Ala115=)
c.-61-1304_-61-1303delinsGC (n.-61-1304_-61-1303delinsGC)
c.205_206delinsGC (p.Ala69=)
n.656_657delinsGC
9g.104884461C>ACA374316234ABCA1c.268G>T (p.Ala90Ser)
c.88G>T (p.Ala30Ser)
c.343G>T (p.Ala115Ser)
c.-61-1304G>T (n.-61-1304G>T)
c.205G>T (p.Ala69Ser)
n.656G>T
 gnomAD v4
9g.104884461C=CA1869947144ABCA1c.268G= (p.Ala90=)
c.88G= (p.Ala30=)
c.343G= (p.Ala115=)
c.-61-1304G= (n.-61-1304G=)
c.205G= (p.Ala69=)
n.656G=
9g.104884461C>GCA374316232ABCA1c.268G>C (p.Ala90Pro)
c.88G>C (p.Ala30Pro)
c.343G>C (p.Ala115Pro)
c.-61-1304G>C (n.-61-1304G>C)
c.205G>C (p.Ala69Pro)
n.656G>C
9g.104884461C>TCA5169458ABCA1c.268G>A (p.Ala90Thr)
c.88G>A (p.Ala30Thr)
c.343G>A (p.Ala115Thr)
c.-61-1304G>A (n.-61-1304G>A)
c.205G>A (p.Ala69Thr)
n.656G>A
 dbSNP ExAC gnomAD v2
9g.104884462delCA5169457ABCA1c.268del (p.Ala90LeufsTer?)
c.88del (p.Ala30LeufsTer?)
c.343del (p.Ala115LeufsTer?)
c.-61-1304del (n.-61-1304del)
c.205del (p.Ala69LeufsTer?)
n.656del
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104884462C>ACA374316237ABCA1c.267G>T (p.Glu89Asp)
c.87G>T (p.Glu29Asp)
c.342G>T (p.Glu114Asp)
c.-61-1305G>T (n.-61-1305G>T)
c.204G>T (p.Glu68Asp)
n.655G>T
9g.104884462C>GCA374316239ABCA1c.267G>C (p.Glu89Asp)
c.87G>C (p.Glu29Asp)
c.342G>C (p.Glu114Asp)
c.-61-1305G>C (n.-61-1305G>C)
c.204G>C (p.Glu68Asp)
n.655G>C
9g.104884462C>TCA466502273ABCA1c.267G>A (p.Glu89=)
c.87G>A (p.Glu29=)
c.342G>A (p.Glu114=)
c.-61-1305G>A (n.-61-1305G>A)
c.204G>A (p.Glu68=)
n.655G>A
9g.104884463T>ACA374316242ABCA1c.266A>T (p.Glu89Val)
c.86A>T (p.Glu29Val)
c.341A>T (p.Glu114Val)
c.-61-1306A>T (n.-61-1306A>T)
c.203A>T (p.Glu68Val)
n.654A>T
9g.104884463T>CCA374316244ABCA1c.266A>G (p.Glu89Gly)
c.86A>G (p.Glu29Gly)
c.341A>G (p.Glu114Gly)
c.-61-1306A>G (n.-61-1306A>G)
c.203A>G (p.Glu68Gly)
n.654A>G
9g.104884463T>GCA374316247ABCA1c.266A>C (p.Glu89Ala)
c.86A>C (p.Glu29Ala)
c.341A>C (p.Glu114Ala)
c.-61-1306A>C (n.-61-1306A>C)
c.203A>C (p.Glu68Ala)
n.654A>C
9g.104884464C>ACA374316250ABCA1c.265G>T (p.Glu89Ter)
c.85G>T (p.Glu29Ter)
c.340G>T (p.Glu114Ter)
c.-61-1307G>T (n.-61-1307G>T)
c.202G>T (p.Glu68Ter)
n.653G>T
9g.104884464C>GCA374316252ABCA1c.265G>C (p.Glu89Gln)
c.85G>C (p.Glu29Gln)
c.340G>C (p.Glu114Gln)
c.-61-1307G>C (n.-61-1307G>C)
c.202G>C (p.Glu68Gln)
n.653G>C
9g.104884464C>TCA374316254ABCA1c.265G>A (p.Glu89Lys)
c.85G>A (p.Glu29Lys)
c.340G>A (p.Glu114Lys)
c.-61-1307G>A (n.-61-1307G>A)
c.202G>A (p.Glu68Lys)
n.653G>A
 COSMIC COSMIC
9g.104884465C>ACA466502274ABCA1c.264G>T (p.Gly88=)
c.84G>T (p.Gly28=)
c.339G>T (p.Gly113=)
c.-61-1308G>T (n.-61-1308G>T)
c.201G>T (p.Gly67=)
n.652G>T
9g.104884465C=CA1869947153ABCA1c.264G= (p.Gly88=)
c.84G= (p.Gly28=)
c.339G= (p.Gly113=)
c.-61-1308G= (n.-61-1308G=)
c.201G= (p.Gly67=)
n.652G=
9g.104884465C>GCA5169459ABCA1c.264G>C (p.Gly88=)
c.84G>C (p.Gly28=)
c.339G>C (p.Gly113=)
c.-61-1308G>C (n.-61-1308G>C)
c.201G>C (p.Gly67=)
n.652G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104884465C>TCA197383263ABCA1c.264G>A (p.Gly88=)
c.84G>A (p.Gly28=)
c.339G>A (p.Gly113=)
c.-61-1308G>A (n.-61-1308G>A)
c.201G>A (p.Gly67=)
n.652G>A
 dbSNP gnomAD v4
9g.104884466C>ACA374316260ABCA1c.263G>T (p.Gly88Val)
c.83G>T (p.Gly28Val)
c.338G>T (p.Gly113Val)
c.-61-1309G>T (n.-61-1309G>T)
c.200G>T (p.Gly67Val)
n.651G>T
9g.104884466C>GCA374316262ABCA1c.263G>C (p.Gly88Ala)
c.83G>C (p.Gly28Ala)
c.338G>C (p.Gly113Ala)
c.-61-1309G>C (n.-61-1309G>C)
c.200G>C (p.Gly67Ala)
n.651G>C
9g.104884466C>TCA374316264ABCA1c.263G>A (p.Gly88Glu)
c.83G>A (p.Gly28Glu)
c.338G>A (p.Gly113Glu)
c.-61-1309G>A (n.-61-1309G>A)
c.200G>A (p.Gly67Glu)
n.651G>A
9g.104884467C>ACA374316272ABCA1c.262G>T (p.Gly88Trp)
c.82G>T (p.Gly28Trp)
c.337G>T (p.Gly113Trp)
c.-61-1310G>T (n.-61-1310G>T)
c.199G>T (p.Gly67Trp)
n.650G>T
9g.104884467C>GCA374316270ABCA1c.262G>C (p.Gly88Arg)
c.82G>C (p.Gly28Arg)
c.337G>C (p.Gly113Arg)
c.-61-1310G>C (n.-61-1310G>C)
c.199G>C (p.Gly67Arg)
n.650G>C
 dbSNP
9g.104884467C>TCA374316268ABCA1c.262G>A (p.Gly88Arg)
c.82G>A (p.Gly28Arg)
c.337G>A (p.Gly113Arg)
c.-61-1310G>A (n.-61-1310G>A)
c.199G>A (p.Gly67Arg)
n.650G>A
 gnomAD v4
9g.104884468A=CA1869947160ABCA1c.261T= (p.Pro87=)
c.81T= (p.Pro27=)
c.336T= (p.Pro112=)
c.-61-1311T= (n.-61-1311T=)
c.198T= (p.Pro66=)
n.649T=
9g.104884468A>CCA466502275ABCA1c.261T>G (p.Pro87=)
c.81T>G (p.Pro27=)
c.336T>G (p.Pro112=)
c.-61-1311T>G (n.-61-1311T>G)
c.198T>G (p.Pro66=)
n.649T>G
9g.104884468A>GCA466502276ABCA1c.261T>C (p.Pro87=)
c.81T>C (p.Pro27=)
c.336T>C (p.Pro112=)
c.-61-1311T>C (n.-61-1311T>C)
c.198T>C (p.Pro66=)
n.649T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104884468A>TCA466502277ABCA1c.261T>A (p.Pro87=)
c.81T>A (p.Pro27=)
c.336T>A (p.Pro112=)
c.-61-1311T>A (n.-61-1311T>A)
c.198T>A (p.Pro66=)
n.649T>A
9g.104884469G>ACA374316274ABCA1c.260C>T (p.Pro87Leu)
c.80C>T (p.Pro27Leu)
c.335C>T (p.Pro112Leu)
c.-61-1312C>T (n.-61-1312C>T)
c.197C>T (p.Pro66Leu)
n.648C>T
9g.104884469G>CCA374316276ABCA1c.260C>G (p.Pro87Arg)
c.80C>G (p.Pro27Arg)
c.335C>G (p.Pro112Arg)
c.-61-1312C>G (n.-61-1312C>G)
c.197C>G (p.Pro66Arg)
n.648C>G
9g.104884469G>TCA374316279ABCA1c.260C>A (p.Pro87His)
c.80C>A (p.Pro27His)
c.335C>A (p.Pro112His)
c.-61-1312C>A (n.-61-1312C>A)
c.197C>A (p.Pro66His)
n.648C>A
9g.104884470G>ACA374316281ABCA1c.259C>T (p.Pro87Ser)
c.79C>T (p.Pro27Ser)
c.334C>T (p.Pro112Ser)
c.-61-1313C>T (n.-61-1313C>T)
c.196C>T (p.Pro66Ser)
n.647C>T
9g.104884470G>CCA374316284ABCA1c.259C>G (p.Pro87Ala)
c.79C>G (p.Pro27Ala)
c.334C>G (p.Pro112Ala)
c.-61-1313C>G (n.-61-1313C>G)
c.196C>G (p.Pro66Ala)
n.647C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104884470G=CA1869947166ABCA1c.259C= (p.Pro87=)
c.79C= (p.Pro27=)
c.334C= (p.Pro112=)
c.-61-1313C= (n.-61-1313C=)
c.196C= (p.Pro66=)
n.647C=
9g.104884470G>TCA374316286ABCA1c.259C>A (p.Pro87Thr)
c.79C>A (p.Pro27Thr)
c.334C>A (p.Pro112Thr)
c.-61-1313C>A (n.-61-1313C>A)
c.196C>A (p.Pro66Thr)
n.647C>A
9g.104884471A>CCA466502278ABCA1c.258T>G (p.Thr86=)
c.78T>G (p.Thr26=)
c.333T>G (p.Thr111=)
c.-61-1314T>G (n.-61-1314T>G)
c.195T>G (p.Thr65=)
n.646T>G
9g.104884471A>GCA466502280ABCA1c.258T>C (p.Thr86=)
c.78T>C (p.Thr26=)
c.333T>C (p.Thr111=)
c.-61-1314T>C (n.-61-1314T>C)
c.195T>C (p.Thr65=)
n.646T>C
9g.104884471A>TCA466502279ABCA1c.258T>A (p.Thr86=)
c.78T>A (p.Thr26=)
c.333T>A (p.Thr111=)
c.-61-1314T>A (n.-61-1314T>A)
c.195T>A (p.Thr65=)
n.646T>A
9g.104884472G>ACA374316293ABCA1c.257C>T (p.Thr86Ile)
c.77C>T (p.Thr26Ile)
c.332C>T (p.Thr111Ile)
c.-61-1315C>T (n.-61-1315C>T)
c.194C>T (p.Thr65Ile)
n.645C>T
9g.104884472G>CCA374316289ABCA1c.257C>G (p.Thr86Ser)
c.77C>G (p.Thr26Ser)
c.332C>G (p.Thr111Ser)
c.-61-1315C>G (n.-61-1315C>G)
c.194C>G (p.Thr65Ser)
n.645C>G
9g.104884472G>TCA374316291ABCA1c.257C>A (p.Thr86Asn)
c.77C>A (p.Thr26Asn)
c.332C>A (p.Thr111Asn)
c.-61-1315C>A (n.-61-1315C>A)
c.194C>A (p.Thr65Asn)
n.645C>A
9g.104884473T>ACA374316296ABCA1c.256A>T (p.Thr86Ser)
c.76A>T (p.Thr26Ser)
c.331A>T (p.Thr111Ser)
c.-61-1316A>T (n.-61-1316A>T)
c.193A>T (p.Thr65Ser)
n.644A>T
9g.104884473T>CCA197383276ABCA1c.256A>G (p.Thr86Ala)
c.76A>G (p.Thr26Ala)
c.331A>G (p.Thr111Ala)
c.-61-1316A>G (n.-61-1316A>G)
c.193A>G (p.Thr65Ala)
n.644A>G
 dbSNP
9g.104884473T>GCA374316299ABCA1c.256A>C (p.Thr86Pro)
c.76A>C (p.Thr26Pro)
c.331A>C (p.Thr111Pro)
c.-61-1316A>C (n.-61-1316A>C)
c.193A>C (p.Thr65Pro)
n.644A>C
9g.104884473T=CA1869947172ABCA1c.256A= (p.Thr86=)
c.76A= (p.Thr26=)
c.331A= (p.Thr111=)
c.-61-1316A= (n.-61-1316A=)
c.193A= (p.Thr65=)
n.644A=
9g.104884473_104884474insGCA197383286ABCA1c.255_256insC (p.Thr86HisfsTer13)
c.75_76insC (p.Thr26HisfsTer13)
c.330_331insC (p.Thr111HisfsTer13)
c.-61-1317_-61-1316insC (n.-61-1317_-61-1316insC)
c.192_193insC (p.Thr65HisfsTer13)
n.643_644insC
 dbSNP
9g.104884474C>ACA466502281ABCA1c.255G>T (p.Pro85=)
c.75G>T (p.Pro25=)
c.330G>T (p.Pro110=)
c.-61-1317G>T (n.-61-1317G>T)
c.192G>T (p.Pro64=)
n.643G>T
 gnomAD v4
9g.104884474C=CA1869947188ABCA1c.255G= (p.Pro85=)
c.75G= (p.Pro25=)
c.330G= (p.Pro110=)
c.-61-1317G= (n.-61-1317G=)
c.192G= (p.Pro64=)
n.643G=
9g.104884474C>GCA466502282ABCA1c.255G>C (p.Pro85=)
c.75G>C (p.Pro25=)
c.330G>C (p.Pro110=)
c.-61-1317G>C (n.-61-1317G>C)
c.192G>C (p.Pro64=)
n.643G>C
9g.104884474C>TCA5169460ABCA1c.255G>A (p.Pro85=)
c.75G>A (p.Pro25=)
c.330G>A (p.Pro110=)
c.-61-1317G>A (n.-61-1317G>A)
c.192G>A (p.Pro64=)
n.643G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104884475G>ACA5169461ABCA1c.254C>T (p.Pro85Leu)
c.74C>T (p.Pro25Leu)
c.329C>T (p.Pro110Leu)
c.-61-1318C>T (n.-61-1318C>T)
c.191C>T (p.Pro64Leu)
n.642C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104884475G>CCA374316308ABCA1c.254C>G (p.Pro85Arg)
c.74C>G (p.Pro25Arg)
c.329C>G (p.Pro110Arg)
c.-61-1318C>G (n.-61-1318C>G)
c.191C>G (p.Pro64Arg)
n.642C>G
 gnomAD v4
9g.104884475G=CA1869947198ABCA1c.254C= (p.Pro85=)
c.74C= (p.Pro25=)
c.329C= (p.Pro110=)
c.-61-1318C= (n.-61-1318C=)
c.191C= (p.Pro64=)
n.642C=
9g.104884475G>TCA374316306ABCA1c.254C>A (p.Pro85Gln)
c.74C>A (p.Pro25Gln)
c.329C>A (p.Pro110Gln)
c.-61-1318C>A (n.-61-1318C>A)
c.191C>A (p.Pro64Gln)
n.642C>A
9g.104884476G>ACA374316311ABCA1c.253C>T (p.Pro85Ser)
c.73C>T (p.Pro25Ser)
c.328C>T (p.Pro110Ser)
c.-61-1319C>T (n.-61-1319C>T)
c.190C>T (p.Pro64Ser)
n.641C>T
 ClinVar dbSNP
9g.104884476G>CCA374316313ABCA1c.253C>G (p.Pro85Ala)
c.73C>G (p.Pro25Ala)
c.328C>G (p.Pro110Ala)
c.-61-1319C>G (n.-61-1319C>G)
c.190C>G (p.Pro64Ala)
n.641C>G
9g.104884476G>TCA374316315ABCA1c.253C>A (p.Pro85Thr)
c.73C>A (p.Pro25Thr)
c.328C>A (p.Pro110Thr)
c.-61-1319C>A (n.-61-1319C>A)
c.190C>A (p.Pro64Thr)
n.641C>A
9g.104884477G>ACA466502283ABCA1c.252C>T (p.Tyr84=)
c.72C>T (p.Tyr24=)
c.327C>T (p.Tyr109=)
c.-61-1320C>T (n.-61-1320C>T)
c.189C>T (p.Tyr63=)
n.640C>T
 gnomAD v4 COSMIC COSMIC
9g.104884477G>CCA374316318ABCA1c.252C>G (p.Tyr84Ter)
c.72C>G (p.Tyr24Ter)
c.327C>G (p.Tyr109Ter)
c.-61-1320C>G (n.-61-1320C>G)
c.189C>G (p.Tyr63Ter)
n.640C>G
9g.104884477G>TCA374316321ABCA1c.252C>A (p.Tyr84Ter)
c.72C>A (p.Tyr24Ter)
c.327C>A (p.Tyr109Ter)
c.-61-1320C>A (n.-61-1320C>A)
c.189C>A (p.Tyr63Ter)
n.640C>A
9g.104884478T>ACA374316324ABCA1c.251A>T (p.Tyr84Phe)
c.71A>T (p.Tyr24Phe)
c.326A>T (p.Tyr109Phe)
c.-61-1321A>T (n.-61-1321A>T)
c.188A>T (p.Tyr63Phe)
n.639A>T
9g.104884478T>CCA374316326ABCA1c.251A>G (p.Tyr84Cys)
c.71A>G (p.Tyr24Cys)
c.326A>G (p.Tyr109Cys)
c.-61-1321A>G (n.-61-1321A>G)
c.188A>G (p.Tyr63Cys)
n.639A>G
9g.104884478T>GCA374316327ABCA1c.251A>C (p.Tyr84Ser)
c.71A>C (p.Tyr24Ser)
c.326A>C (p.Tyr109Ser)
c.-61-1321A>C (n.-61-1321A>C)
c.188A>C (p.Tyr63Ser)
n.639A>C
9g.104884479A=CA1869947202ABCA1c.250T= (p.Tyr84=)
c.70T= (p.Tyr24=)
c.325T= (p.Tyr109=)
c.-61-1322T= (n.-61-1322T=)
c.187T= (p.Tyr63=)
n.638T=
9g.104884479A>CCA374316330ABCA1c.250T>G (p.Tyr84Asp)
c.70T>G (p.Tyr24Asp)
c.325T>G (p.Tyr109Asp)
c.-61-1322T>G (n.-61-1322T>G)
c.187T>G (p.Tyr63Asp)
n.638T>G
9g.104884479A>GCA5169462ABCA1c.250T>C (p.Tyr84His)
c.70T>C (p.Tyr24His)
c.325T>C (p.Tyr109His)
c.-61-1322T>C (n.-61-1322T>C)
c.187T>C (p.Tyr63His)
n.638T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104884479A>TCA374316333ABCA1c.250T>A (p.Tyr84Asn)
c.70T>A (p.Tyr24Asn)
c.325T>A (p.Tyr109Asn)
c.-61-1322T>A (n.-61-1322T>A)
c.187T>A (p.Tyr63Asn)
n.638T>A
9g.104884480A>CCA466502287ABCA1c.249T>G (p.Arg83=)
c.69T>G (p.Arg23=)
c.324T>G (p.Arg108=)
c.-61-1323T>G (n.-61-1323T>G)
c.186T>G (p.Arg62=)
n.637T>G
9g.104884480A>GCA466502288ABCA1c.249T>C (p.Arg83=)
c.69T>C (p.Arg23=)
c.324T>C (p.Arg108=)
c.-61-1323T>C (n.-61-1323T>C)
c.186T>C (p.Arg62=)
n.637T>C
9g.104884480A>TCA466502286ABCA1c.249T>A (p.Arg83=)
c.69T>A (p.Arg23=)
c.324T>A (p.Arg108=)
c.-61-1323T>A (n.-61-1323T>A)
c.186T>A (p.Arg62=)
n.637T>A
9g.104884481C>ACA374316337ABCA1c.248G>T (p.Arg83Leu)
c.68G>T (p.Arg23Leu)
c.323G>T (p.Arg108Leu)
c.-61-1324G>T (n.-61-1324G>T)
c.185G>T (p.Arg62Leu)
n.636G>T
 gnomAD v4
9g.104884481C=CA1869947208ABCA1c.248G= (p.Arg83=)
c.68G= (p.Arg23=)
c.323G= (p.Arg108=)
c.-61-1324G= (n.-61-1324G=)
c.185G= (p.Arg62=)
n.636G=
9g.104884481C>GCA374316338ABCA1c.248G>C (p.Arg83Pro)
c.68G>C (p.Arg23Pro)
c.323G>C (p.Arg108Pro)
c.-61-1324G>C (n.-61-1324G>C)
c.185G>C (p.Arg62Pro)
n.636G>C
9g.104884481C>TCA5169463ABCA1c.248G>A (p.Arg83His)
c.68G>A (p.Arg23His)
c.323G>A (p.Arg108His)
c.-61-1324G>A (n.-61-1324G>A)
c.185G>A (p.Arg62His)
n.636G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.104884482G>ACA374316342ABCA1c.247C>T (p.Arg83Cys)
c.67C>T (p.Arg23Cys)
c.322C>T (p.Arg108Cys)
c.-61-1325C>T (n.-61-1325C>T)
c.184C>T (p.Arg62Cys)
n.635C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104884482G>CCA374316340ABCA1c.247C>G (p.Arg83Gly)
c.67C>G (p.Arg23Gly)
c.322C>G (p.Arg108Gly)
c.-61-1325C>G (n.-61-1325C>G)
c.184C>G (p.Arg62Gly)
n.635C>G
9g.104884482G=CA1869947213ABCA1c.247C= (p.Arg83=)
c.67C= (p.Arg23=)
c.322C= (p.Arg108=)
c.-61-1325C= (n.-61-1325C=)
c.184C= (p.Arg62=)
n.635C=
9g.104884482G>TCA374316344ABCA1c.247C>A (p.Arg83Ser)
c.67C>A (p.Arg23Ser)
c.322C>A (p.Arg108Ser)
c.-61-1325C>A (n.-61-1325C>A)
c.184C>A (p.Arg62Ser)
n.635C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104884482_104884483delCA2691057519ABCA1c.246_247del (p.Phe82LeufsTer16)
c.66_67del (p.Phe22LeufsTer16)
c.321_322del (p.Phe107LeufsTer16)
c.-61-1326_-61-1325del (n.-61-1326_-61-1325del)
c.183_184del (p.Phe61LeufsTer16)
n.634_635del
 gnomAD v4
9g.104884483G>ACA466502289ABCA1c.246C>T (p.Phe82=)
c.66C>T (p.Phe22=)
c.321C>T (p.Phe107=)
c.-61-1326C>T (n.-61-1326C>T)
c.183C>T (p.Phe61=)
n.634C>T
 COSMIC COSMIC
9g.104884483G>CCA374316347ABCA1c.246C>G (p.Phe82Leu)
c.66C>G (p.Phe22Leu)
c.321C>G (p.Phe107Leu)
c.-61-1326C>G (n.-61-1326C>G)
c.183C>G (p.Phe61Leu)
n.634C>G
9g.104884483G>TCA374316349ABCA1c.246C>A (p.Phe82Leu)
c.66C>A (p.Phe22Leu)
c.321C>A (p.Phe107Leu)
c.-61-1326C>A (n.-61-1326C>A)
c.183C>A (p.Phe61Leu)
n.634C>A
9g.104884484A=CA1869947219ABCA1c.245T= (p.Phe82=)
c.65T= (p.Phe22=)
c.320T= (p.Phe107=)
c.-61-1327T= (n.-61-1327T=)
c.182T= (p.Phe61=)
n.633T=
9g.104884484A>CCA374316352ABCA1c.245T>G (p.Phe82Cys)
c.65T>G (p.Phe22Cys)
c.320T>G (p.Phe107Cys)
c.-61-1327T>G (n.-61-1327T>G)
c.182T>G (p.Phe61Cys)
n.633T>G
9g.104884484A>GCA374316354ABCA1c.245T>C (p.Phe82Ser)
c.65T>C (p.Phe22Ser)
c.320T>C (p.Phe107Ser)
c.-61-1327T>C (n.-61-1327T>C)
c.182T>C (p.Phe61Ser)
n.633T>C
9g.104884484A>TCA197383323ABCA1c.245T>A (p.Phe82Tyr)
c.65T>A (p.Phe22Tyr)
c.320T>A (p.Phe107Tyr)
c.-61-1327T>A (n.-61-1327T>A)
c.182T>A (p.Phe61Tyr)
n.633T>A
 dbSNP
9g.104884485A>CCA374316359ABCA1c.244T>G (p.Phe82Val)
c.64T>G (p.Phe22Val)
c.319T>G (p.Phe107Val)
c.-61-1328T>G (n.-61-1328T>G)
c.181T>G (p.Phe61Val)
n.632T>G
9g.104884485A>GCA374316362ABCA1c.244T>C (p.Phe82Leu)
c.64T>C (p.Phe22Leu)
c.319T>C (p.Phe107Leu)
c.-61-1328T>C (n.-61-1328T>C)
c.181T>C (p.Phe61Leu)
n.632T>C
9g.104884485A>TCA374316364ABCA1c.244T>A (p.Phe82Ile)
c.64T>A (p.Phe22Ile)
c.319T>A (p.Phe107Ile)
c.-61-1328T>A (n.-61-1328T>A)
c.181T>A (p.Phe61Ile)
n.632T>A
9g.104884486A=CA1869947223ABCA1c.243T= (p.Cys81=)
c.63T= (p.Cys21=)
c.318T= (p.Cys106=)
c.-61-1329T= (n.-61-1329T=)
c.180T= (p.Cys60=)
n.631T=
9g.104884486A>CCA374316366ABCA1c.243T>G (p.Cys81Trp)
c.63T>G (p.Cys21Trp)
c.318T>G (p.Cys106Trp)
c.-61-1329T>G (n.-61-1329T>G)
c.180T>G (p.Cys60Trp)
n.631T>G
9g.104884486A>GCA466502290ABCA1c.243T>C (p.Cys81=)
c.63T>C (p.Cys21=)
c.318T>C (p.Cys106=)
c.-61-1329T>C (n.-61-1329T>C)
c.180T>C (p.Cys60=)
n.631T>C
 ClinVar dbSNP gnomAD v4
9g.104884486A>TCA374316369ABCA1c.243T>A (p.Cys81Ter)
c.63T>A (p.Cys21Ter)
c.318T>A (p.Cys106Ter)
c.-61-1329T>A (n.-61-1329T>A)
c.180T>A (p.Cys60Ter)
n.631T>A
9g.104884487C>ACA374316371ABCA1c.242G>T (p.Cys81Phe)
c.62G>T (p.Cys21Phe)
c.317G>T (p.Cys106Phe)
c.-61-1330G>T (n.-61-1330G>T)
c.179G>T (p.Cys60Phe)
n.630G>T
9g.104884487C>GCA374316373ABCA1c.242G>C (p.Cys81Ser)
c.62G>C (p.Cys21Ser)
c.317G>C (p.Cys106Ser)
c.-61-1330G>C (n.-61-1330G>C)
c.179G>C (p.Cys60Ser)
n.630G>C
9g.104884487C>TCA374316375ABCA1c.242G>A (p.Cys81Tyr)
c.62G>A (p.Cys21Tyr)
c.317G>A (p.Cys106Tyr)
c.-61-1330G>A (n.-61-1330G>A)
c.179G>A (p.Cys60Tyr)
n.630G>A
9g.104884488A>CCA374316380ABCA1c.241T>G (p.Cys81Gly)
c.61T>G (p.Cys21Gly)
c.316T>G (p.Cys106Gly)
c.-61-1331T>G (n.-61-1331T>G)
c.178T>G (p.Cys60Gly)
n.629T>G
9g.104884488A>GCA374316383ABCA1c.241T>C (p.Cys81Arg)
c.61T>C (p.Cys21Arg)
c.316T>C (p.Cys106Arg)
c.-61-1331T>C (n.-61-1331T>C)
c.178T>C (p.Cys60Arg)
n.629T>C
9g.104884488A>TCA374316378ABCA1c.241T>A (p.Cys81Ser)
c.61T>A (p.Cys21Ser)
c.316T>A (p.Cys106Ser)
c.-61-1331T>A (n.-61-1331T>A)
c.178T>A (p.Cys60Ser)
n.629T>A
9g.104884489G>ACA466502291ABCA1c.240C>T (p.Pro80=)
c.60C>T (p.Pro20=)
c.315C>T (p.Pro105=)
c.-61-1332C>T (n.-61-1332C>T)
c.177C>T (p.Pro59=)
n.628C>T
 gnomAD v4
9g.104884489G>CCA466502292ABCA1c.240C>G (p.Pro80=)
c.60C>G (p.Pro20=)
c.315C>G (p.Pro105=)
c.-61-1332C>G (n.-61-1332C>G)
c.177C>G (p.Pro59=)
n.628C>G
9g.104884489G>TCA466502293ABCA1c.240C>A (p.Pro80=)
c.60C>A (p.Pro20=)
c.315C>A (p.Pro105=)
c.-61-1332C>A (n.-61-1332C>A)
c.177C>A (p.Pro59=)
n.628C>A
9g.104884490G>ACA374316385ABCA1c.239C>T (p.Pro80Leu)
c.59C>T (p.Pro20Leu)
c.314C>T (p.Pro105Leu)
c.-61-1333C>T (n.-61-1333C>T)
c.176C>T (p.Pro59Leu)
n.627C>T
9g.104884490G>CCA197383324ABCA1c.239C>G (p.Pro80Arg)
c.59C>G (p.Pro20Arg)
c.314C>G (p.Pro105Arg)
c.-61-1333C>G (n.-61-1333C>G)
c.176C>G (p.Pro59Arg)
n.627C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104884490G=CA1869947228ABCA1c.239C= (p.Pro80=)
c.59C= (p.Pro20=)
c.314C= (p.Pro105=)
c.-61-1333C= (n.-61-1333C=)
c.176C= (p.Pro59=)
n.627C=
9g.104884490G>TCA374316389ABCA1c.239C>A (p.Pro80His)
c.59C>A (p.Pro20His)
c.314C>A (p.Pro105His)
c.-61-1333C>A (n.-61-1333C>A)
c.176C>A (p.Pro59His)
n.627C>A
9g.104884491G>ACA374316392ABCA1c.238C>T (p.Pro80Ser)
c.58C>T (p.Pro20Ser)
c.313C>T (p.Pro105Ser)
c.-61-1334C>T (n.-61-1334C>T)
c.175C>T (p.Pro59Ser)
n.626C>T
9g.104884491G>CCA374316393ABCA1c.238C>G (p.Pro80Ala)
c.58C>G (p.Pro20Ala)
c.313C>G (p.Pro105Ala)
c.-61-1334C>G (n.-61-1334C>G)
c.175C>G (p.Pro59Ala)
n.626C>G
 gnomAD v4
9g.104884491G>TCA374316395ABCA1c.238C>A (p.Pro80Thr)
c.58C>A (p.Pro20Thr)
c.313C>A (p.Pro105Thr)
c.-61-1334C>A (n.-61-1334C>A)
c.175C>A (p.Pro59Thr)
n.626C>A
9g.104884492G>ACA466502294ABCA1c.237C>T (p.Asn79=)
c.57C>T (p.Asn19=)
c.312C>T (p.Asn104=)
c.-61-1335C>T (n.-61-1335C>T)
c.174C>T (p.Asn58=)
n.625C>T
 dbSNP
9g.104884492G>CCA374316398ABCA1c.237C>G (p.Asn79Lys)
c.57C>G (p.Asn19Lys)
c.312C>G (p.Asn104Lys)
c.-61-1335C>G (n.-61-1335C>G)
c.174C>G (p.Asn58Lys)
n.625C>G
9g.104884492G=CA1869947233ABCA1c.237C= (p.Asn79=)
c.57C= (p.Asn19=)
c.312C= (p.Asn104=)
c.-61-1335C= (n.-61-1335C=)
c.174C= (p.Asn58=)
n.625C=
9g.104884492G>TCA374316400ABCA1c.237C>A (p.Asn79Lys)
c.57C>A (p.Asn19Lys)
c.312C>A (p.Asn104Lys)
c.-61-1335C>A (n.-61-1335C>A)
c.174C>A (p.Asn58Lys)
n.625C>A
9g.104884493T>ACA374316403ABCA1c.236A>T (p.Asn79Ile)
c.56A>T (p.Asn19Ile)
c.311A>T (p.Asn104Ile)
c.-61-1336A>T (n.-61-1336A>T)
c.173A>T (p.Asn58Ile)
n.624A>T
9g.104884493T>CCA374316405ABCA1c.236A>G (p.Asn79Ser)
c.56A>G (p.Asn19Ser)
c.311A>G (p.Asn104Ser)
c.-61-1336A>G (n.-61-1336A>G)
c.173A>G (p.Asn58Ser)
n.624A>G
9g.104884493T>GCA374316406ABCA1c.236A>C (p.Asn79Thr)
c.56A>C (p.Asn19Thr)
c.311A>C (p.Asn104Thr)
c.-61-1336A>C (n.-61-1336A>C)
c.173A>C (p.Asn58Thr)
n.624A>C
9g.104884494T>ACA374316408ABCA1c.235A>T (p.Asn79Tyr)
c.55A>T (p.Asn19Tyr)
c.310A>T (p.Asn104Tyr)
c.-61-1337A>T (n.-61-1337A>T)
c.172A>T (p.Asn58Tyr)
n.623A>T
9g.104884494T>CCA374316409ABCA1c.235A>G (p.Asn79Asp)
c.55A>G (p.Asn19Asp)
c.310A>G (p.Asn104Asp)
c.-61-1337A>G (n.-61-1337A>G)
c.172A>G (p.Asn58Asp)
n.623A>G
9g.104884494T>GCA374316411ABCA1c.235A>C (p.Asn79His)
c.55A>C (p.Asn19His)
c.310A>C (p.Asn104His)
c.-61-1337A>C (n.-61-1337A>C)
c.172A>C (p.Asn58His)
n.623A>C
9g.104884495G>ACA466502296ABCA1c.234C>T (p.Asn78=)
c.54C>T (p.Asn18=)
c.309C>T (p.Asn103=)
c.-61-1338C>T (n.-61-1338C>T)
c.171C>T (p.Asn57=)
n.622C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104884495G>CCA374316414ABCA1c.234C>G (p.Asn78Lys)
c.54C>G (p.Asn18Lys)
c.309C>G (p.Asn103Lys)
c.-61-1338C>G (n.-61-1338C>G)
c.171C>G (p.Asn57Lys)
n.622C>G
9g.104884495G=CA1869947235ABCA1c.234C= (p.Asn78=)
c.54C= (p.Asn18=)
c.309C= (p.Asn103=)
c.-61-1338C= (n.-61-1338C=)
c.171C= (p.Asn57=)
n.622C=
9g.104884495G>TCA374316416ABCA1c.234C>A (p.Asn78Lys)
c.54C>A (p.Asn18Lys)
c.309C>A (p.Asn103Lys)
c.-61-1338C>A (n.-61-1338C>A)
c.171C>A (p.Asn57Lys)
n.622C>A
9g.104884496T>ACA374316419ABCA1c.233A>T (p.Asn78Ile)
c.53A>T (p.Asn18Ile)
c.308A>T (p.Asn103Ile)
c.-61-1339A>T (n.-61-1339A>T)
c.170A>T (p.Asn57Ile)
n.621A>T
9g.104884496T>CCA374316423ABCA1c.233A>G (p.Asn78Ser)
c.53A>G (p.Asn18Ser)
c.308A>G (p.Asn103Ser)
c.-61-1339A>G (n.-61-1339A>G)
c.170A>G (p.Asn57Ser)
n.621A>G
9g.104884496T>GCA374316421ABCA1c.233A>C (p.Asn78Thr)
c.53A>C (p.Asn18Thr)
c.308A>C (p.Asn103Thr)
c.-61-1339A>C (n.-61-1339A>C)
c.170A>C (p.Asn57Thr)
n.621A>C
 gnomAD v4
9g.104884497T>ACA374316427ABCA1c.232A>T (p.Asn78Tyr)
c.52A>T (p.Asn18Tyr)
c.307A>T (p.Asn103Tyr)
c.-61-1340A>T (n.-61-1340A>T)
c.169A>T (p.Asn57Tyr)
n.620A>T
9g.104884497T>CCA374316429ABCA1c.232A>G (p.Asn78Asp)
c.52A>G (p.Asn18Asp)
c.307A>G (p.Asn103Asp)
c.-61-1340A>G (n.-61-1340A>G)
c.169A>G (p.Asn57Asp)
n.620A>G
9g.104884497T>GCA197383331ABCA1c.232A>C (p.Asn78His)
c.52A>C (p.Asn18His)
c.307A>C (p.Asn103His)
c.-61-1340A>C (n.-61-1340A>C)
c.169A>C (p.Asn57His)
n.620A>C
 dbSNP
9g.104884497T=CA1869947238ABCA1c.232A= (p.Asn78=)
c.52A= (p.Asn18=)
c.307A= (p.Asn103=)
c.-61-1340A= (n.-61-1340A=)
c.169A= (p.Asn57=)
n.620A=
9g.104884498G>ACA466502297ABCA1c.231C>T (p.Ala77=)
c.51C>T (p.Ala17=)
c.306C>T (p.Ala102=)
c.-61-1341C>T (n.-61-1341C>T)
c.168C>T (p.Ala56=)
n.619C>T
9g.104884498G>CCA466502299ABCA1c.231C>G (p.Ala77=)
c.51C>G (p.Ala17=)
c.306C>G (p.Ala102=)
c.-61-1341C>G (n.-61-1341C>G)
c.168C>G (p.Ala56=)
n.619C>G
9g.104884498G>TCA466502298ABCA1c.231C>A (p.Ala77=)
c.51C>A (p.Ala17=)
c.306C>A (p.Ala102=)
c.-61-1341C>A (n.-61-1341C>A)
c.168C>A (p.Ala56=)
n.619C>A
9g.104884499G>ACA374316433ABCA1c.230C>T (p.Ala77Val)
c.50C>T (p.Ala17Val)
c.305C>T (p.Ala102Val)
c.-61-1342C>T (n.-61-1342C>T)
c.167C>T (p.Ala56Val)
n.618C>T
 dbSNP
9g.104884499G>CCA374316435ABCA1c.230C>G (p.Ala77Gly)
c.50C>G (p.Ala17Gly)
c.305C>G (p.Ala102Gly)
c.-61-1342C>G (n.-61-1342C>G)
c.167C>G (p.Ala56Gly)
n.618C>G
9g.104884499G=CA1869947243ABCA1c.230C= (p.Ala77=)
c.50C= (p.Ala17=)
c.305C= (p.Ala102=)
c.-61-1342C= (n.-61-1342C=)
c.167C= (p.Ala56=)
n.618C=
9g.104884499G>TCA374316437ABCA1c.230C>A (p.Ala77Asp)
c.50C>A (p.Ala17Asp)
c.305C>A (p.Ala102Asp)
c.-61-1342C>A (n.-61-1342C>A)
c.167C>A (p.Ala56Asp)
n.618C>A
9g.104884500C>ACA374316441ABCA1c.229G>T (p.Ala77Ser)
c.49G>T (p.Ala17Ser)
c.304G>T (p.Ala102Ser)
c.-61-1343G>T (n.-61-1343G>T)
c.166G>T (p.Ala56Ser)
n.617G>T
9g.104884500C>GCA374316443ABCA1c.229G>C (p.Ala77Pro)
c.49G>C (p.Ala17Pro)
c.304G>C (p.Ala102Pro)
c.-61-1343G>C (n.-61-1343G>C)
c.166G>C (p.Ala56Pro)
n.617G>C
9g.104884500C>TCA374316445ABCA1c.229G>A (p.Ala77Thr)
c.49G>A (p.Ala17Thr)
c.304G>A (p.Ala102Thr)
c.-61-1343G>A (n.-61-1343G>A)
c.166G>A (p.Ala56Thr)
n.617G>A
9g.104884501A=CA1869947254ABCA1c.228T= (p.Asn76=)
c.48T= (p.Asn16=)
c.303T= (p.Asn101=)
c.-61-1344T= (n.-61-1344T=)
c.165T= (p.Asn55=)
n.616T=
9g.104884501A>CCA374316448ABCA1c.228T>G (p.Asn76Lys)
c.48T>G (p.Asn16Lys)
c.303T>G (p.Asn101Lys)
c.-61-1344T>G (n.-61-1344T>G)
c.165T>G (p.Asn55Lys)
n.616T>G
9g.104884501A>GCA466502300ABCA1c.228T>C (p.Asn76=)
c.48T>C (p.Asn16=)
c.303T>C (p.Asn101=)
c.-61-1344T>C (n.-61-1344T>C)
c.165T>C (p.Asn55=)
n.616T>C
 ClinVar dbSNP gnomAD v4
9g.104884501A>TCA374316450ABCA1c.228T>A (p.Asn76Lys)
c.48T>A (p.Asn16Lys)
c.303T>A (p.Asn101Lys)
c.-61-1344T>A (n.-61-1344T>A)
c.165T>A (p.Asn55Lys)
n.616T>A
9g.104884502T>ACA374316459ABCA1c.227A>T (p.Asn76Ile)
c.47A>T (p.Asn16Ile)
c.302A>T (p.Asn101Ile)
c.-61-1345A>T (n.-61-1345A>T)
c.164A>T (p.Asn55Ile)
n.615A>T
9g.104884502T>CCA374316456ABCA1c.227A>G (p.Asn76Ser)
c.47A>G (p.Asn16Ser)
c.302A>G (p.Asn101Ser)
c.-61-1345A>G (n.-61-1345A>G)
c.164A>G (p.Asn55Ser)
n.615A>G
9g.104884502T>GCA374316454ABCA1c.227A>C (p.Asn76Thr)
c.47A>C (p.Asn16Thr)
c.302A>C (p.Asn101Thr)
c.-61-1345A>C (n.-61-1345A>C)
c.164A>C (p.Asn55Thr)
n.615A>C
9g.104884503T>ACA374316461ABCA1c.226A>T (p.Asn76Tyr)
c.46A>T (p.Asn16Tyr)
c.301A>T (p.Asn101Tyr)
c.-61-1346A>T (n.-61-1346A>T)
c.163A>T (p.Asn55Tyr)
n.614A>T
9g.104884503T>CCA374316463ABCA1c.226A>G (p.Asn76Asp)
c.46A>G (p.Asn16Asp)
c.301A>G (p.Asn101Asp)
c.-61-1346A>G (n.-61-1346A>G)
c.163A>G (p.Asn55Asp)
n.614A>G
9g.104884503T>GCA374316464ABCA1c.226A>C (p.Asn76His)
c.46A>C (p.Asn16His)
c.301A>C (p.Asn101His)
c.-61-1346A>C (n.-61-1346A>C)
c.163A>C (p.Asn55His)
n.614A>C
9g.104884504A>CCA374316467ABCA1c.225T>G (p.Cys75Trp)
c.45T>G (p.Cys15Trp)
c.300T>G (p.Cys100Trp)
c.-61-1347T>G (n.-61-1347T>G)
c.162T>G (p.Cys54Trp)
n.613T>G
9g.104884504A>GCA466502301ABCA1c.225T>C (p.Cys75=)
c.45T>C (p.Cys15=)
c.300T>C (p.Cys100=)
c.-61-1347T>C (n.-61-1347T>C)
c.162T>C (p.Cys54=)
n.613T>C
9g.104884504A>TCA374316469ABCA1c.225T>A (p.Cys75Ter)
c.45T>A (p.Cys15Ter)
c.300T>A (p.Cys100Ter)
c.-61-1347T>A (n.-61-1347T>A)
c.162T>A (p.Cys54Ter)
n.613T>A
9g.104884505C>ACA374316472ABCA1c.224G>T (p.Cys75Phe)
c.44G>T (p.Cys15Phe)
c.299G>T (p.Cys100Phe)
c.-61-1348G>T (n.-61-1348G>T)
c.161G>T (p.Cys54Phe)
n.612G>T
9g.104884505C=CA1869947258ABCA1c.224G= (p.Cys75=)
c.44G= (p.Cys15=)
c.299G= (p.Cys100=)
c.-61-1348G= (n.-61-1348G=)
c.161G= (p.Cys54=)
n.612G=
9g.104884505C>GCA197383339ABCA1c.224G>C (p.Cys75Ser)
c.44G>C (p.Cys15Ser)
c.299G>C (p.Cys100Ser)
c.-61-1348G>C (n.-61-1348G>C)
c.161G>C (p.Cys54Ser)
n.612G>C
 dbSNP gnomAD v3 gnomAD v4
9g.104884505C>TCA374316474ABCA1c.224G>A (p.Cys75Tyr)
c.44G>A (p.Cys15Tyr)
c.299G>A (p.Cys100Tyr)
c.-61-1348G>A (n.-61-1348G>A)
c.161G>A (p.Cys54Tyr)
n.612G>A
9g.104884506A>CCA374316477ABCA1c.223T>G (p.Cys75Gly)
c.43T>G (p.Cys15Gly)
c.298T>G (p.Cys100Gly)
c.-61-1349T>G (n.-61-1349T>G)
c.160T>G (p.Cys54Gly)
n.611T>G
9g.104884506A>GCA374316479ABCA1c.223T>C (p.Cys75Arg)
c.43T>C (p.Cys15Arg)
c.298T>C (p.Cys100Arg)
c.-61-1349T>C (n.-61-1349T>C)
c.160T>C (p.Cys54Arg)
n.611T>C
9g.104884506A>TCA374316481ABCA1c.223T>A (p.Cys75Ser)
c.43T>A (p.Cys15Ser)
c.298T>A (p.Cys100Ser)
c.-61-1349T>A (n.-61-1349T>A)
c.160T>A (p.Cys54Ser)
n.611T>A
9g.104884507G>ACA466502302ABCA1c.222C>T (p.Ile74=)
c.42C>T (p.Ile14=)
c.297C>T (p.Ile99=)
c.-61-1350C>T (n.-61-1350C>T)
c.159C>T (p.Ile53=)
n.610C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104884507G>CCA374316482ABCA1c.222C>G (p.Ile74Met)
c.42C>G (p.Ile14Met)
c.297C>G (p.Ile99Met)
c.-61-1350C>G (n.-61-1350C>G)
c.159C>G (p.Ile53Met)
n.610C>G
9g.104884507G=CA1869947262ABCA1c.222C= (p.Ile74=)
c.42C= (p.Ile14=)
c.297C= (p.Ile99=)
c.-61-1350C= (n.-61-1350C=)
c.159C= (p.Ile53=)
n.610C=
9g.104884507G>TCA466502303ABCA1c.222C>A (p.Ile74=)
c.42C>A (p.Ile14=)
c.297C>A (p.Ile99=)
c.-61-1350C>A (n.-61-1350C>A)
c.159C>A (p.Ile53=)
n.610C>A
9g.104884508A>CCA374316485ABCA1c.221T>G (p.Ile74Ser)
c.41T>G (p.Ile14Ser)
c.296T>G (p.Ile99Ser)
c.-61-1351T>G (n.-61-1351T>G)
c.158T>G (p.Ile53Ser)
n.609T>G
9g.104884508A>GCA374316489ABCA1c.221T>C (p.Ile74Thr)
c.41T>C (p.Ile14Thr)
c.296T>C (p.Ile99Thr)
c.-61-1351T>C (n.-61-1351T>C)
c.158T>C (p.Ile53Thr)
n.609T>C
9g.104884508A>TCA374316486ABCA1c.221T>A (p.Ile74Asn)
c.41T>A (p.Ile14Asn)
c.296T>A (p.Ile99Asn)
c.-61-1351T>A (n.-61-1351T>A)
c.158T>A (p.Ile53Asn)
n.609T>A
9g.104884509T>ACA374316491ABCA1c.220A>T (p.Ile74Phe)
c.40A>T (p.Ile14Phe)
c.295A>T (p.Ile99Phe)
c.-61-1352A>T (n.-61-1352A>T)
c.157A>T (p.Ile53Phe)
n.608A>T
 gnomAD v4
9g.104884509T>CCA374316494ABCA1c.220A>G (p.Ile74Val)
c.40A>G (p.Ile14Val)
c.295A>G (p.Ile99Val)
c.-61-1352A>G (n.-61-1352A>G)
c.157A>G (p.Ile53Val)
n.608A>G
 dbSNP gnomAD v4
9g.104884509T>GCA374316496ABCA1c.220A>C (p.Ile74Leu)
c.40A>C (p.Ile14Leu)
c.295A>C (p.Ile99Leu)
c.-61-1352A>C (n.-61-1352A>C)
c.157A>C (p.Ile53Leu)
n.608A>C
9g.104884509T=CA1869947265ABCA1c.220A= (p.Ile74=)
c.40A= (p.Ile14=)
c.295A= (p.Ile99=)
c.-61-1352A= (n.-61-1352A=)
c.157A= (p.Ile53=)
n.608A=
9g.104884510A>CCA374316499ABCA1c.219T>G (p.Ile73Met)
c.39T>G (p.Ile13Met)
c.294T>G (p.Ile98Met)
c.-61-1353T>G (n.-61-1353T>G)
c.156T>G (p.Ile52Met)
n.607T>G
9g.104884510A>GCA466502304ABCA1c.219T>C (p.Ile73=)
c.39T>C (p.Ile13=)
c.294T>C (p.Ile98=)
c.-61-1353T>C (n.-61-1353T>C)
c.156T>C (p.Ile52=)
n.607T>C
9g.104884510A>TCA466502305ABCA1c.219T>A (p.Ile73=)
c.39T>A (p.Ile13=)
c.294T>A (p.Ile98=)
c.-61-1353T>A (n.-61-1353T>A)
c.156T>A (p.Ile52=)
n.607T>A
9g.104884511dupCA2695210947ABCA1c.219dup (p.Ile74TyrfsTer3)
c.39dup (p.Ile14TyrfsTer3)
c.294dup (p.Ile99TyrfsTer3)
c.-61-1353dup (n.-61-1353dup)
c.156dup (p.Ile53TyrfsTer3)
n.607dup
9g.104884511A>CCA374316502ABCA1c.218T>G (p.Ile73Ser)
c.38T>G (p.Ile13Ser)
c.293T>G (p.Ile98Ser)
c.-61-1354T>G (n.-61-1354T>G)
c.155T>G (p.Ile52Ser)
n.606T>G
9g.104884511A>GCA374316504ABCA1c.218T>C (p.Ile73Thr)
c.38T>C (p.Ile13Thr)
c.293T>C (p.Ile98Thr)
c.-61-1354T>C (n.-61-1354T>C)
c.155T>C (p.Ile52Thr)
n.606T>C
9g.104884511A>TCA374316506ABCA1c.218T>A (p.Ile73Asn)
c.38T>A (p.Ile13Asn)
c.293T>A (p.Ile98Asn)
c.-61-1354T>A (n.-61-1354T>A)
c.155T>A (p.Ile52Asn)
n.606T>A
9g.104884512T>ACA374316509ABCA1c.217A>T (p.Ile73Phe)
c.37A>T (p.Ile13Phe)
c.292A>T (p.Ile98Phe)
c.-61-1355A>T (n.-61-1355A>T)
c.154A>T (p.Ile52Phe)
n.605A>T
9g.104884512T>CCA374316511ABCA1c.217A>G (p.Ile73Val)
c.37A>G (p.Ile13Val)
c.292A>G (p.Ile98Val)
c.-61-1355A>G (n.-61-1355A>G)
c.154A>G (p.Ile52Val)
n.605A>G
9g.104884512T>GCA374316512ABCA1c.217A>C (p.Ile73Leu)
c.37A>C (p.Ile13Leu)
c.292A>C (p.Ile98Leu)
c.-61-1355A>C (n.-61-1355A>C)
c.154A>C (p.Ile52Leu)
n.605A>C
9g.104884513C>ACA466502306ABCA1c.216G>T (p.Gly72=)
c.36G>T (p.Gly12=)
c.291G>T (p.Gly97=)
c.-61-1356G>T (n.-61-1356G>T)
c.153G>T (p.Gly51=)
n.604G>T
9g.104884513C=CA1869947268ABCA1c.216G= (p.Gly72=)
c.36G= (p.Gly12=)
c.291G= (p.Gly97=)
c.-61-1356G= (n.-61-1356G=)
c.153G= (p.Gly51=)
n.604G=
9g.104884513C>GCA466502307ABCA1c.216G>C (p.Gly72=)
c.36G>C (p.Gly12=)
c.291G>C (p.Gly97=)
c.-61-1356G>C (n.-61-1356G>C)
c.153G>C (p.Gly51=)
n.604G>C
9g.104884513C>TCA466502308ABCA1c.216G>A (p.Gly72=)
c.36G>A (p.Gly12=)
c.291G>A (p.Gly97=)
c.-61-1356G>A (n.-61-1356G>A)
c.153G>A (p.Gly51=)
n.604G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104884514C>ACA374316514ABCA1c.215G>T (p.Gly72Val)
c.35G>T (p.Gly12Val)
c.290G>T (p.Gly97Val)
c.-61-1357G>T (n.-61-1357G>T)
c.152G>T (p.Gly51Val)
n.603G>T
9g.104884514C>GCA374316516ABCA1c.215G>C (p.Gly72Ala)
c.35G>C (p.Gly12Ala)
c.290G>C (p.Gly97Ala)
c.-61-1357G>C (n.-61-1357G>C)
c.152G>C (p.Gly51Ala)
n.603G>C
9g.104884514C>TCA374316518ABCA1c.215G>A (p.Gly72Glu)
c.35G>A (p.Gly12Glu)
c.290G>A (p.Gly97Glu)
c.-61-1357G>A (n.-61-1357G>A)
c.152G>A (p.Gly51Glu)
n.603G>A
9g.104884515C>ACA374316526ABCA1c.214G>T (p.Gly72Trp)
c.34G>T (p.Gly12Trp)
c.289G>T (p.Gly97Trp)
c.-61-1358G>T (n.-61-1358G>T)
c.151G>T (p.Gly51Trp)
n.602G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104884515C=CA1869947270ABCA1c.214G= (p.Gly72=)
c.34G= (p.Gly12=)
c.289G= (p.Gly97=)
c.-61-1358G= (n.-61-1358G=)
c.151G= (p.Gly51=)
n.602G=
9g.104884515C>GCA374316523ABCA1c.214G>C (p.Gly72Arg)
c.34G>C (p.Gly12Arg)
c.289G>C (p.Gly97Arg)
c.-61-1358G>C (n.-61-1358G>C)
c.151G>C (p.Gly51Arg)
n.602G>C
9g.104884515C>TCA374316521ABCA1c.214G>A (p.Gly72Arg)
c.34G>A (p.Gly12Arg)
c.289G>A (p.Gly97Arg)
c.-61-1358G>A (n.-61-1358G>A)
c.151G>A (p.Gly51Arg)
n.602G>A
9g.104884516C>ACA374316528ABCA1c.213G>T (p.Gln71His)
c.33G>T (p.Gln11His)
c.288G>T (p.Gln96His)
c.-61-1359G>T (n.-61-1359G>T)
c.150G>T (p.Gln50His)
n.601G>T
9g.104884516C=CA1869947273ABCA1c.213G= (p.Gln71=)
c.33G= (p.Gln11=)
c.288G= (p.Gln96=)
c.-61-1359G= (n.-61-1359G=)
c.150G= (p.Gln50=)
n.601G=
9g.104884516C>GCA374316530ABCA1c.213G>C (p.Gln71His)
c.33G>C (p.Gln11His)
c.288G>C (p.Gln96His)
c.-61-1359G>C (n.-61-1359G>C)
c.150G>C (p.Gln50His)
n.601G>C
 dbSNP gnomAD v2 gnomAD v4
9g.104884516C>TCA466502309ABCA1c.213G>A (p.Gln71=)
c.33G>A (p.Gln11=)
c.288G>A (p.Gln96=)
c.-61-1359G>A (n.-61-1359G>A)
c.150G>A (p.Gln50=)
n.601G>A
9g.104884517T>ACA374316534ABCA1c.212A>T (p.Gln71Leu)
c.32A>T (p.Gln11Leu)
c.287A>T (p.Gln96Leu)
c.-61-1360A>T (n.-61-1360A>T)
c.149A>T (p.Gln50Leu)
n.600A>T
 COSMIC COSMIC
9g.104884517T>CCA374316536ABCA1c.212A>G (p.Gln71Arg)
c.32A>G (p.Gln11Arg)
c.287A>G (p.Gln96Arg)
c.-61-1360A>G (n.-61-1360A>G)
c.149A>G (p.Gln50Arg)
n.600A>G
9g.104884517T>GCA374316539ABCA1c.212A>C (p.Gln71Pro)
c.32A>C (p.Gln11Pro)
c.287A>C (p.Gln96Pro)
c.-61-1360A>C (n.-61-1360A>C)
c.149A>C (p.Gln50Pro)
n.600A>C
9g.104884518G>ACA374316542ABCA1c.211C>T (p.Gln71Ter)
c.31C>T (p.Gln11Ter)
c.286C>T (p.Gln96Ter)
c.-61-1361C>T (n.-61-1361C>T)
c.148C>T (p.Gln50Ter)
n.599C>T
 gnomAD v4
9g.104884518G>CCA374316544ABCA1c.211C>G (p.Gln71Glu)
c.31C>G (p.Gln11Glu)
c.286C>G (p.Gln96Glu)
c.-61-1361C>G (n.-61-1361C>G)
c.148C>G (p.Gln50Glu)
n.599C>G
9g.104884518G>TCA374316546ABCA1c.211C>A (p.Gln71Lys)
c.31C>A (p.Gln11Lys)
c.286C>A (p.Gln96Lys)
c.-61-1361C>A (n.-61-1361C>A)
c.148C>A (p.Gln50Lys)
n.599C>A
9g.104884519A>CCA466502310ABCA1c.210T>G (p.Val70=)
c.30T>G (p.Val10=)
c.285T>G (p.Val95=)
c.-61-1362T>G (n.-61-1362T>G)
c.147T>G (p.Val49=)
n.598T>G
9g.104884519A>GCA466502312ABCA1c.210T>C (p.Val70=)
c.30T>C (p.Val10=)
c.285T>C (p.Val95=)
c.-61-1362T>C (n.-61-1362T>C)
c.147T>C (p.Val49=)
n.598T>C
9g.104884519A>TCA466502311ABCA1c.210T>A (p.Val70=)
c.30T>A (p.Val10=)
c.285T>A (p.Val95=)
c.-61-1362T>A (n.-61-1362T>A)
c.147T>A (p.Val49=)
n.598T>A
9g.104884520A>CCA374316549ABCA1c.209T>G (p.Val70Gly)
c.29T>G (p.Val10Gly)
c.284T>G (p.Val95Gly)
c.-61-1363T>G (n.-61-1363T>G)
c.146T>G (p.Val49Gly)
n.597T>G
9g.104884520A>GCA374316551ABCA1c.209T>C (p.Val70Ala)
c.29T>C (p.Val10Ala)
c.284T>C (p.Val95Ala)
c.-61-1363T>C (n.-61-1363T>C)
c.146T>C (p.Val49Ala)
n.597T>C
9g.104884520A>TCA374316553ABCA1c.209T>A (p.Val70Asp)
c.29T>A (p.Val10Asp)
c.284T>A (p.Val95Asp)
c.-61-1363T>A (n.-61-1363T>A)
c.146T>A (p.Val49Asp)
n.597T>A
 gnomAD v4
9g.104884521C>ACA374316555ABCA1c.208G>T (p.Val70Phe)
c.28G>T (p.Val10Phe)
c.283G>T (p.Val95Phe)
c.-61-1364G>T (n.-61-1364G>T)
c.145G>T (p.Val49Phe)
n.596G>T
9g.104884521C>GCA374316556ABCA1c.208G>C (p.Val70Leu)
c.28G>C (p.Val10Leu)
c.283G>C (p.Val95Leu)
c.-61-1364G>C (n.-61-1364G>C)
c.145G>C (p.Val49Leu)
n.596G>C
9g.104884521C>TCA374316557ABCA1c.208G>A (p.Val70Ile)
c.28G>A (p.Val10Ile)
c.283G>A (p.Val95Ile)
c.-61-1364G>A (n.-61-1364G>A)
c.145G>A (p.Val49Ile)
n.596G>A
9g.104884523delCA2695210948ABCA1c.208del (p.Val70PhefsTer?)
c.28del (p.Val10PhefsTer?)
c.283del (p.Val95PhefsTer?)
c.-61-1364del (n.-61-1364del)
c.145del (p.Val49PhefsTer?)
n.596del
9g.104884522C>ACA374316561ABCA1c.207G>T (p.Trp69Cys)
c.27G>T (p.Trp9Cys)
c.282G>T (p.Trp94Cys)
c.-61-1365G>T (n.-61-1365G>T)
c.144G>T (p.Trp48Cys)
n.595G>T
9g.104884522C>GCA374316563ABCA1c.207G>C (p.Trp69Cys)
c.27G>C (p.Trp9Cys)
c.282G>C (p.Trp94Cys)
c.-61-1365G>C (n.-61-1365G>C)
c.144G>C (p.Trp48Cys)
n.595G>C
9g.104884522C>TCA374316560ABCA1c.207G>A (p.Trp69Ter)
c.27G>A (p.Trp9Ter)
c.282G>A (p.Trp94Ter)
c.-61-1365G>A (n.-61-1365G>A)
c.144G>A (p.Trp48Ter)
n.595G>A
9g.104884523C>ACA374316565ABCA1c.206G>T (p.Trp69Leu)
c.26G>T (p.Trp9Leu)
c.281G>T (p.Trp94Leu)
c.-61-1366G>T (n.-61-1366G>T)
c.143G>T (p.Trp48Leu)
n.594G>T
9g.104884523C>GCA374316567ABCA1c.206G>C (p.Trp69Ser)
c.26G>C (p.Trp9Ser)
c.281G>C (p.Trp94Ser)
c.-61-1366G>C (n.-61-1366G>C)
c.143G>C (p.Trp48Ser)
n.594G>C
9g.104884523C>TCA374316569ABCA1c.206G>A (p.Trp69Ter)
c.26G>A (p.Trp9Ter)
c.281G>A (p.Trp94Ter)
c.-61-1366G>A (n.-61-1366G>A)
c.143G>A (p.Trp48Ter)
n.594G>A
9g.104884524A=CA1869947281ABCA1c.205T= (p.Trp69=)
c.25T= (p.Trp9=)
c.280T= (p.Trp94=)
c.-61-1367T= (n.-61-1367T=)
c.142T= (p.Trp48=)
n.593T=
9g.104884524A>CCA5169464ABCA1c.205T>G (p.Trp69Gly)
c.25T>G (p.Trp9Gly)
c.280T>G (p.Trp94Gly)
c.-61-1367T>G (n.-61-1367T>G)
c.142T>G (p.Trp48Gly)
n.593T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104884524A>GCA374316573ABCA1c.205T>C (p.Trp69Arg)
c.25T>C (p.Trp9Arg)
c.280T>C (p.Trp94Arg)
c.-61-1367T>C (n.-61-1367T>C)
c.142T>C (p.Trp48Arg)
n.593T>C
9g.104884524A>TCA374316575ABCA1c.205T>A (p.Trp69Arg)
c.25T>A (p.Trp9Arg)
c.280T>A (p.Trp94Arg)
c.-61-1367T>A (n.-61-1367T>A)
c.142T>A (p.Trp48Arg)
n.593T>A
9g.104884525A>CCA466502313ABCA1c.204T>G (p.Pro68=)
c.24T>G (p.Pro8=)
c.279T>G (p.Pro93=)
c.-61-1368T>G (n.-61-1368T>G)
c.141T>G (p.Pro47=)
n.592T>G
9g.104884525A>GCA466502315ABCA1c.204T>C (p.Pro68=)
c.24T>C (p.Pro8=)
c.279T>C (p.Pro93=)
c.-61-1368T>C (n.-61-1368T>C)
c.141T>C (p.Pro47=)
n.592T>C
 gnomAD v4
9g.104884525A>TCA466502314ABCA1c.204T>A (p.Pro68=)
c.24T>A (p.Pro8=)
c.279T>A (p.Pro93=)
c.-61-1368T>A (n.-61-1368T>A)
c.141T>A (p.Pro47=)
n.592T>A
9g.104884525_104884526delinsAGCA1869947286ABCA1c.203_204delinsCT (p.Pro68=)
c.23_24delinsCT (p.Pro8=)
c.278_279delinsCT (p.Pro93=)
c.-61-1369_-61-1368delinsCT (n.-61-1369_-61-1368delinsCT)
c.140_141delinsCT (p.Pro47=)
n.591_592delinsCT
9g.104884526G>ACA374316576ABCA1c.203C>T (p.Pro68Leu)
c.23C>T (p.Pro8Leu)
c.278C>T (p.Pro93Leu)
c.-61-1369C>T (n.-61-1369C>T)
c.140C>T (p.Pro47Leu)
n.591C>T
 gnomAD v4
9g.104884526G>CCA374316577ABCA1c.203C>G (p.Pro68Arg)
c.23C>G (p.Pro8Arg)
c.278C>G (p.Pro93Arg)
c.-61-1369C>G (n.-61-1369C>G)
c.140C>G (p.Pro47Arg)
n.591C>G
9g.104884526G>TCA374316578ABCA1c.203C>A (p.Pro68His)
c.23C>A (p.Pro8His)
c.278C>A (p.Pro93His)
c.-61-1369C>A (n.-61-1369C>A)
c.140C>A (p.Pro47His)
n.591C>A
9g.104884527delCA1869947289ABCA1c.203del (p.Pro68LeufsTer?)
c.23del (p.Pro8LeufsTer?)
c.278del (p.Pro93LeufsTer?)
c.-61-1369del (n.-61-1369del)
c.140del (p.Pro47LeufsTer?)
n.591del
 dbSNP
9g.104884527G>ACA197383376ABCA1c.202C>T (p.Pro68Ser)
c.22C>T (p.Pro8Ser)
c.277C>T (p.Pro93Ser)
c.-61-1370C>T (n.-61-1370C>T)
c.139C>T (p.Pro47Ser)
n.590C>T
 dbSNP gnomAD v4
9g.104884527G>CCA374316579ABCA1c.202C>G (p.Pro68Ala)
c.22C>G (p.Pro8Ala)
c.277C>G (p.Pro93Ala)
c.-61-1370C>G (n.-61-1370C>G)
c.139C>G (p.Pro47Ala)
n.590C>G
9g.104884527G=CA1869947293ABCA1c.202C= (p.Pro68=)
c.22C= (p.Pro8=)
c.277C= (p.Pro93=)
c.-61-1370C= (n.-61-1370C=)
c.139C= (p.Pro47=)
n.590C=
9g.104884527G>TCA374316580ABCA1c.202C>A (p.Pro68Thr)
c.22C>A (p.Pro8Thr)
c.277C>A (p.Pro93Thr)
c.-61-1370C>A (n.-61-1370C>A)
c.139C>A (p.Pro47Thr)
n.590C>A
9g.104884528A>CCA466502316ABCA1c.201T>G (p.Leu67=)
c.21T>G (p.Leu7=)
c.276T>G (p.Leu92=)
c.-61-1371T>G (n.-61-1371T>G)
c.138T>G (p.Leu46=)
n.589T>G
9g.104884528A>GCA466502317ABCA1c.201T>C (p.Leu67=)
c.21T>C (p.Leu7=)
c.276T>C (p.Leu92=)
c.-61-1371T>C (n.-61-1371T>C)
c.138T>C (p.Leu46=)
n.589T>C
9g.104884528A>TCA466502318ABCA1c.201T>A (p.Leu67=)
c.21T>A (p.Leu7=)
c.276T>A (p.Leu92=)
c.-61-1371T>A (n.-61-1371T>A)
c.138T>A (p.Leu46=)
n.589T>A
 ClinVar gnomAD v4
9g.104884529A=CA1869947294ABCA1c.200T= (p.Leu67=)
c.20T= (p.Leu7=)
c.275T= (p.Leu92=)
c.-61-1372T= (n.-61-1372T=)
c.137T= (p.Leu46=)
n.588T=
9g.104884529A>CCA374316583ABCA1c.200T>G (p.Leu67Arg)
c.20T>G (p.Leu7Arg)
c.275T>G (p.Leu92Arg)
c.-61-1372T>G (n.-61-1372T>G)
c.137T>G (p.Leu46Arg)
n.588T>G
9g.104884529A>GCA374316582ABCA1c.200T>C (p.Leu67Pro)
c.20T>C (p.Leu7Pro)
c.275T>C (p.Leu92Pro)
c.-61-1372T>C (n.-61-1372T>C)
c.137T>C (p.Leu46Pro)
n.588T>C
 dbSNP gnomAD v2
9g.104884529A>TCA374316581ABCA1c.200T>A (p.Leu67His)
c.20T>A (p.Leu7His)
c.275T>A (p.Leu92His)
c.-61-1372T>A (n.-61-1372T>A)
c.137T>A (p.Leu46His)
n.588T>A
9g.104884530G>ACA374316584ABCA1c.199C>T (p.Leu67Phe)
c.19C>T (p.Leu7Phe)
c.274C>T (p.Leu92Phe)
c.-61-1373C>T (n.-61-1373C>T)
c.136C>T (p.Leu46Phe)
n.587C>T
 COSMIC COSMIC
9g.104884530G>CCA374316585ABCA1c.199C>G (p.Leu67Val)
c.19C>G (p.Leu7Val)
c.274C>G (p.Leu92Val)
c.-61-1373C>G (n.-61-1373C>G)
c.136C>G (p.Leu46Val)
n.587C>G
9g.104884530G>TCA374316586ABCA1c.199C>A (p.Leu67Ile)
c.19C>A (p.Leu7Ile)
c.274C>A (p.Leu92Ile)
c.-61-1373C>A (n.-61-1373C>A)
c.136C>A (p.Leu46Ile)
n.587C>A
9g.104884531T>ACA466502319ABCA1c.198A>T (p.Thr66=)
c.18A>T (p.Thr6=)
c.273A>T (p.Thr91=)
c.-61-1374A>T (n.-61-1374A>T)
c.135A>T (p.Thr45=)
n.586A>T
9g.104884531T>CCA466502320ABCA1c.198A>G (p.Thr66=)
c.18A>G (p.Thr6=)
c.273A>G (p.Thr91=)
c.-61-1374A>G (n.-61-1374A>G)
c.135A>G (p.Thr45=)
n.586A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104884531T>GCA466502321ABCA1c.198A>C (p.Thr66=)
c.18A>C (p.Thr6=)
c.273A>C (p.Thr91=)
c.-61-1374A>C (n.-61-1374A>C)
c.135A>C (p.Thr45=)
n.586A>C
9g.104884531T=CA1869947295ABCA1c.198A= (p.Thr66=)
c.18A= (p.Thr6=)
c.273A= (p.Thr91=)
c.-61-1374A= (n.-61-1374A=)
c.135A= (p.Thr45=)
n.586A=
9g.104884532G>ACA374316587ABCA1c.197C>T (p.Thr66Ile)
c.17C>T (p.Thr6Ile)
c.272C>T (p.Thr91Ile)
c.-61-1375C>T (n.-61-1375C>T)
c.134C>T (p.Thr45Ile)
n.585C>T
9g.104884532G>CCA374316588ABCA1c.197C>G (p.Thr66Arg)
c.17C>G (p.Thr6Arg)
c.272C>G (p.Thr91Arg)
c.-61-1375C>G (n.-61-1375C>G)
c.134C>G (p.Thr45Arg)
n.585C>G
9g.104884532G>TCA374316589ABCA1c.197C>A (p.Thr66Lys)
c.17C>A (p.Thr6Lys)
c.272C>A (p.Thr91Lys)
c.-61-1375C>A (n.-61-1375C>A)
c.134C>A (p.Thr45Lys)
n.585C>A
9g.104884533T>ACA374316590ABCA1c.196A>T (p.Thr66Ser)
c.16A>T (p.Thr6Ser)
c.271A>T (p.Thr91Ser)
c.-61-1376A>T (n.-61-1376A>T)
c.133A>T (p.Thr45Ser)
n.584A>T
9g.104884533T>CCA374316591ABCA1c.196A>G (p.Thr66Ala)
c.16A>G (p.Thr6Ala)
c.271A>G (p.Thr91Ala)
c.-61-1376A>G (n.-61-1376A>G)
c.133A>G (p.Thr45Ala)
n.584A>G
9g.104884533T>GCA374316592ABCA1c.196A>C (p.Thr66Pro)
c.16A>C (p.Thr6Pro)
c.271A>C (p.Thr91Pro)
c.-61-1376A>C (n.-61-1376A>C)
c.133A>C (p.Thr45Pro)
n.584A>C
9g.104884534T>ACA466502324ABCA1c.195A>T (p.Gly65=)
c.15A>T (p.Gly5=)
c.270A>T (p.Gly90=)
c.-61-1377A>T (n.-61-1377A>T)
c.132A>T (p.Gly44=)
n.583A>T
9g.104884534T>CCA466502322ABCA1c.195A>G (p.Gly65=)
c.15A>G (p.Gly5=)
c.270A>G (p.Gly90=)
c.-61-1377A>G (n.-61-1377A>G)
c.132A>G (p.Gly44=)
n.583A>G
9g.104884534T>GCA466502323ABCA1c.195A>C (p.Gly65=)
c.15A>C (p.Gly5=)
c.270A>C (p.Gly90=)
c.-61-1377A>C (n.-61-1377A>C)
c.132A>C (p.Gly44=)
n.583A>C
9g.104884535C>ACA374316593ABCA1c.194G>T (p.Gly65Val)
c.14G>T (p.Gly5Val)
c.269G>T (p.Gly90Val)
c.-61-1378G>T (n.-61-1378G>T)
c.131G>T (p.Gly44Val)
n.582G>T
9g.104884535C>GCA374316594ABCA1c.194G>C (p.Gly65Ala)
c.14G>C (p.Gly5Ala)
c.269G>C (p.Gly90Ala)
c.-61-1378G>C (n.-61-1378G>C)
c.131G>C (p.Gly44Ala)
n.582G>C
9g.104884535C>TCA374316595ABCA1c.194G>A (p.Gly65Glu)
c.14G>A (p.Gly5Glu)
c.269G>A (p.Gly90Glu)
c.-61-1378G>A (n.-61-1378G>A)
c.131G>A (p.Gly44Glu)
n.582G>A
9g.104884536C>ACA374316596ABCA1c.193G>T (p.Gly65Ter)
c.13G>T (p.Gly5Ter)
c.268G>T (p.Gly90Ter)
c.-61-1379G>T (n.-61-1379G>T)
c.130G>T (p.Gly44Ter)
n.581G>T
9g.104884536C>GCA374316598ABCA1c.193G>C (p.Gly65Arg)
c.13G>C (p.Gly5Arg)
c.268G>C (p.Gly90Arg)
c.-61-1379G>C (n.-61-1379G>C)
c.130G>C (p.Gly44Arg)
n.581G>C
9g.104884536C>TCA374316597ABCA1c.193G>A (p.Gly65Arg)
c.13G>A (p.Gly5Arg)
c.268G>A (p.Gly90Arg)
c.-61-1379G>A (n.-61-1379G>A)
c.130G>A (p.Gly44Arg)
n.581G>A
9g.104884537T>ACA466502325ABCA1c.192A>T (p.Ala64=)
c.12A>T (p.Ala4=)
c.267A>T (p.Ala89=)
c.-61-1380A>T (n.-61-1380A>T)
c.129A>T (p.Ala43=)
n.580A>T
9g.104884537T>CCA466502326ABCA1c.192A>G (p.Ala64=)
c.12A>G (p.Ala4=)
c.267A>G (p.Ala89=)
c.-61-1380A>G (n.-61-1380A>G)
c.129A>G (p.Ala43=)
n.580A>G
 gnomAD v4
9g.104884537T>GCA466502327ABCA1c.192A>C (p.Ala64=)
c.12A>C (p.Ala4=)
c.267A>C (p.Ala89=)
c.-61-1380A>C (n.-61-1380A>C)
c.129A>C (p.Ala43=)
n.580A>C
9g.104884538G>ACA374316599ABCA1c.191C>T (p.Ala64Val)
c.11C>T (p.Ala4Val)
c.266C>T (p.Ala89Val)
c.-61-1381C>T (n.-61-1381C>T)
c.128C>T (p.Ala43Val)
n.579C>T
9g.104884538G>CCA374316601ABCA1c.191C>G (p.Ala64Gly)
c.11C>G (p.Ala4Gly)
c.266C>G (p.Ala89Gly)
c.-61-1381C>G (n.-61-1381C>G)
c.128C>G (p.Ala43Gly)
n.579C>G
9g.104884538G=CA1869947298ABCA1c.191C= (p.Ala64=)
c.11C= (p.Ala4=)
c.266C= (p.Ala89=)
c.-61-1381C= (n.-61-1381C=)
c.128C= (p.Ala43=)
n.579C=
9g.104884538G>TCA374316600ABCA1c.191C>A (p.Ala64Glu)
c.11C>A (p.Ala4Glu)
c.266C>A (p.Ala89Glu)
c.-61-1381C>A (n.-61-1381C>A)
c.128C>A (p.Ala43Glu)
n.579C>A
 dbSNP gnomAD v3 gnomAD v4
9g.104884539C>ACA374316602ABCA1c.190G>T (p.Ala64Ser)
c.10G>T (p.Ala4Ser)
c.265G>T (p.Ala89Ser)
c.-61-1382G>T (n.-61-1382G>T)
c.127G>T (p.Ala43Ser)
n.578G>T
 gnomAD v4
9g.104884539C>GCA374316604ABCA1c.190G>C (p.Ala64Pro)
c.10G>C (p.Ala4Pro)
c.265G>C (p.Ala89Pro)
c.-61-1382G>C (n.-61-1382G>C)
c.127G>C (p.Ala43Pro)
n.578G>C
9g.104884539C>TCA374316603ABCA1c.190G>A (p.Ala64Thr)
c.10G>A (p.Ala4Thr)
c.265G>A (p.Ala89Thr)
c.-61-1382G>A (n.-61-1382G>A)
c.127G>A (p.Ala43Thr)
n.578G>A
9g.104884540A>CCA466502328ABCA1c.189T>G (p.Ser63=)
c.9T>G (p.Ser3=)
c.264T>G (p.Ser88=)
c.-61-1383T>G (n.-61-1383T>G)
c.126T>G (p.Ser42=)
n.577T>G
9g.104884540A>GCA466502330ABCA1c.189T>C (p.Ser63=)
c.9T>C (p.Ser3=)
c.264T>C (p.Ser88=)
c.-61-1383T>C (n.-61-1383T>C)
c.126T>C (p.Ser42=)
n.577T>C
9g.104884540A>TCA466502329ABCA1c.189T>A (p.Ser63=)
c.9T>A (p.Ser3=)
c.264T>A (p.Ser88=)
c.-61-1383T>A (n.-61-1383T>A)
c.126T>A (p.Ser42=)
n.577T>A
9g.104884541G>ACA374316605ABCA1c.188C>T (p.Ser63Phe)
c.8C>T (p.Ser3Phe)
c.263C>T (p.Ser88Phe)
c.-61-1384C>T (n.-61-1384C>T)
c.125C>T (p.Ser42Phe)
n.576C>T
9g.104884541G>CCA374316606ABCA1c.188C>G (p.Ser63Cys)
c.8C>G (p.Ser3Cys)
c.263C>G (p.Ser88Cys)
c.-61-1384C>G (n.-61-1384C>G)
c.125C>G (p.Ser42Cys)
n.576C>G
 dbSNP gnomAD v4
9g.104884541G=CA1869947304ABCA1c.188C= (p.Ser63=)
c.8C= (p.Ser3=)
c.263C= (p.Ser88=)
c.-61-1384C= (n.-61-1384C=)
c.125C= (p.Ser42=)
n.576C=
9g.104884541G>TCA374316607ABCA1c.188C>A (p.Ser63Tyr)
c.8C>A (p.Ser3Tyr)
c.263C>A (p.Ser88Tyr)
c.-61-1384C>A (n.-61-1384C>A)
c.125C>A (p.Ser42Tyr)
n.576C>A
9g.104884542A>CCA374316608ABCA1c.187T>G (p.Ser63Ala)
c.7T>G (p.Ser3Ala)
c.262T>G (p.Ser88Ala)
c.-61-1385T>G (n.-61-1385T>G)
c.124T>G (p.Ser42Ala)
n.575T>G
9g.104884542A>GCA374316609ABCA1c.187T>C (p.Ser63Pro)
c.7T>C (p.Ser3Pro)
c.262T>C (p.Ser88Pro)
c.-61-1385T>C (n.-61-1385T>C)
c.124T>C (p.Ser42Pro)
n.575T>C
9g.104884542A>TCA374316610ABCA1c.187T>A (p.Ser63Thr)
c.7T>A (p.Ser3Thr)
c.262T>A (p.Ser88Thr)
c.-61-1385T>A (n.-61-1385T>A)
c.124T>A (p.Ser42Thr)
n.575T>A
9g.104884543G>ACA466502331ABCA1c.186C>T (p.Pro62=)
c.6C>T (p.Pro2=)
c.261C>T (p.Pro87=)
c.-61-1386C>T (n.-61-1386C>T)
c.123C>T (p.Pro41=)
n.574C>T
 dbSNP gnomAD v4
9g.104884543G>CCA466502332ABCA1c.186C>G (p.Pro62=)
c.6C>G (p.Pro2=)
c.261C>G (p.Pro87=)
c.-61-1386C>G (n.-61-1386C>G)
c.123C>G (p.Pro41=)
n.574C>G
 gnomAD v4
9g.104884543G=CA1869947307ABCA1c.186C= (p.Pro62=)
c.6C= (p.Pro2=)
c.261C= (p.Pro87=)
c.-61-1386C= (n.-61-1386C=)
c.123C= (p.Pro41=)
n.574C=
9g.104884543G>TCA466502333ABCA1c.186C>A (p.Pro62=)
c.6C>A (p.Pro2=)
c.261C>A (p.Pro87=)
c.-61-1386C>A (n.-61-1386C>A)
c.123C>A (p.Pro41=)
n.574C>A

Number of alleles fetched