Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104806276A=CA1869929667ABCA1c.4429T= (p.Cys1477=)
c.4435T= (p.Cys1479=)
c.4255T= (p.Cys1419=)
c.4510T= (p.Cys1504=)
c.4504T= (p.Cys1502=)
c.4072T= (p.Cys1358=)
c.4372T= (p.Cys1458=)
n.4823T=
9g.104806276A>CCA374315516ABCA1c.4429T>G (p.Cys1477Gly)
c.4435T>G (p.Cys1479Gly)
c.4255T>G (p.Cys1419Gly)
c.4510T>G (p.Cys1504Gly)
c.4504T>G (p.Cys1502Gly)
c.4072T>G (p.Cys1358Gly)
c.4372T>G (p.Cys1458Gly)
n.4823T>G
 gnomAD v4
9g.104806276A>GCA120477ABCA1c.4429T>C (p.Cys1477Arg)
c.4435T>C (p.Cys1479Arg)
c.4255T>C (p.Cys1419Arg)
c.4510T>C (p.Cys1504Arg)
c.4504T>C (p.Cys1502Arg)
c.4072T>C (p.Cys1358Arg)
c.4372T>C (p.Cys1458Arg)
n.4823T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806276A>TCA374315515ABCA1c.4429T>A (p.Cys1477Ser)
c.4435T>A (p.Cys1479Ser)
c.4255T>A (p.Cys1419Ser)
c.4510T>A (p.Cys1504Ser)
c.4504T>A (p.Cys1502Ser)
c.4072T>A (p.Cys1358Ser)
c.4372T>A (p.Cys1458Ser)
n.4823T>A
9g.104806277C>ACA466504309ABCA1c.4428G>T (p.Val1476=)
c.4434G>T (p.Val1478=)
c.4254G>T (p.Val1418=)
c.4509G>T (p.Val1503=)
c.4503G>T (p.Val1501=)
c.4071G>T (p.Val1357=)
c.4371G>T (p.Val1457=)
n.4822G>T
9g.104806277C>GCA466504313ABCA1c.4428G>C (p.Val1476=)
c.4434G>C (p.Val1478=)
c.4254G>C (p.Val1418=)
c.4509G>C (p.Val1503=)
c.4503G>C (p.Val1501=)
c.4071G>C (p.Val1357=)
c.4371G>C (p.Val1457=)
n.4822G>C
9g.104806277C>TCA466504311ABCA1c.4428G>A (p.Val1476=)
c.4434G>A (p.Val1478=)
c.4254G>A (p.Val1418=)
c.4509G>A (p.Val1503=)
c.4503G>A (p.Val1501=)
c.4071G>A (p.Val1357=)
c.4371G>A (p.Val1457=)
n.4822G>A
9g.104806278A>CCA374315519ABCA1c.4427T>G (p.Val1476Gly)
c.4433T>G (p.Val1478Gly)
c.4253T>G (p.Val1418Gly)
c.4508T>G (p.Val1503Gly)
c.4502T>G (p.Val1501Gly)
c.4070T>G (p.Val1357Gly)
c.4370T>G (p.Val1457Gly)
n.4821T>G
9g.104806278A>GCA374315517ABCA1c.4427T>C (p.Val1476Ala)
c.4433T>C (p.Val1478Ala)
c.4253T>C (p.Val1418Ala)
c.4508T>C (p.Val1503Ala)
c.4502T>C (p.Val1501Ala)
c.4070T>C (p.Val1357Ala)
c.4370T>C (p.Val1457Ala)
n.4821T>C
9g.104806278A>TCA374315518ABCA1c.4427T>A (p.Val1476Glu)
c.4433T>A (p.Val1478Glu)
c.4253T>A (p.Val1418Glu)
c.4508T>A (p.Val1503Glu)
c.4502T>A (p.Val1501Glu)
c.4070T>A (p.Val1357Glu)
c.4370T>A (p.Val1457Glu)
n.4821T>A
9g.104806279C>ACA374315520ABCA1c.4426G>T (p.Val1476Leu)
c.4432G>T (p.Val1478Leu)
c.4252G>T (p.Val1418Leu)
c.4507G>T (p.Val1503Leu)
c.4501G>T (p.Val1501Leu)
c.4069G>T (p.Val1357Leu)
c.4369G>T (p.Val1457Leu)
n.4820G>T
9g.104806279C=CA1869929676ABCA1c.4426G= (p.Val1476=)
c.4432G= (p.Val1478=)
c.4252G= (p.Val1418=)
c.4507G= (p.Val1503=)
c.4501G= (p.Val1501=)
c.4069G= (p.Val1357=)
c.4369G= (p.Val1457=)
n.4820G=
9g.104806279C>GCA374315521ABCA1c.4426G>C (p.Val1476Leu)
c.4432G>C (p.Val1478Leu)
c.4252G>C (p.Val1418Leu)
c.4507G>C (p.Val1503Leu)
c.4501G>C (p.Val1501Leu)
c.4069G>C (p.Val1357Leu)
c.4369G>C (p.Val1457Leu)
n.4820G>C
 ClinVar dbSNP gnomAD v4
9g.104806279C>TCA374315522ABCA1c.4426G>A (p.Val1476Met)
c.4432G>A (p.Val1478Met)
c.4252G>A (p.Val1418Met)
c.4507G>A (p.Val1503Met)
c.4501G>A (p.Val1501Met)
c.4069G>A (p.Val1357Met)
c.4369G>A (p.Val1457Met)
n.4820G>A
 dbSNP gnomAD v4
9g.104806280A>CCA466504315ABCA1c.4425T>G (p.Pro1475=)
c.4431T>G (p.Pro1477=)
c.4251T>G (p.Pro1417=)
c.4506T>G (p.Pro1502=)
c.4500T>G (p.Pro1500=)
c.4068T>G (p.Pro1356=)
c.4368T>G (p.Pro1456=)
n.4819T>G
9g.104806280A>GCA466504316ABCA1c.4425T>C (p.Pro1475=)
c.4431T>C (p.Pro1477=)
c.4251T>C (p.Pro1417=)
c.4506T>C (p.Pro1502=)
c.4500T>C (p.Pro1500=)
c.4068T>C (p.Pro1356=)
c.4368T>C (p.Pro1456=)
n.4819T>C
 gnomAD v4
9g.104806280A>TCA466504317ABCA1c.4425T>A (p.Pro1475=)
c.4431T>A (p.Pro1477=)
c.4251T>A (p.Pro1417=)
c.4506T>A (p.Pro1502=)
c.4500T>A (p.Pro1500=)
c.4068T>A (p.Pro1356=)
c.4368T>A (p.Pro1456=)
n.4819T>A
9g.104806281G>ACA374315525ABCA1c.4424C>T (p.Pro1475Leu)
c.4430C>T (p.Pro1477Leu)
c.4250C>T (p.Pro1417Leu)
c.4505C>T (p.Pro1502Leu)
c.4499C>T (p.Pro1500Leu)
c.4067C>T (p.Pro1356Leu)
c.4367C>T (p.Pro1456Leu)
n.4818C>T
 gnomAD v4
9g.104806281G>CCA374315524ABCA1c.4424C>G (p.Pro1475Arg)
c.4430C>G (p.Pro1477Arg)
c.4250C>G (p.Pro1417Arg)
c.4505C>G (p.Pro1502Arg)
c.4499C>G (p.Pro1500Arg)
c.4067C>G (p.Pro1356Arg)
c.4367C>G (p.Pro1456Arg)
n.4818C>G
9g.104806281G>TCA374315523ABCA1c.4424C>A (p.Pro1475His)
c.4430C>A (p.Pro1477His)
c.4250C>A (p.Pro1417His)
c.4505C>A (p.Pro1502His)
c.4499C>A (p.Pro1500His)
c.4067C>A (p.Pro1356His)
c.4367C>A (p.Pro1456His)
n.4818C>A
9g.104806282G>ACA5168153ABCA1c.4423C>T (p.Pro1475Ser)
c.4429C>T (p.Pro1477Ser)
c.4249C>T (p.Pro1417Ser)
c.4504C>T (p.Pro1502Ser)
c.4498C>T (p.Pro1500Ser)
c.4066C>T (p.Pro1356Ser)
c.4366C>T (p.Pro1456Ser)
n.4817C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806282G>CCA374315526ABCA1c.4423C>G (p.Pro1475Ala)
c.4429C>G (p.Pro1477Ala)
c.4249C>G (p.Pro1417Ala)
c.4504C>G (p.Pro1502Ala)
c.4498C>G (p.Pro1500Ala)
c.4066C>G (p.Pro1356Ala)
c.4366C>G (p.Pro1456Ala)
n.4817C>G
 gnomAD v4
9g.104806282G=CA1869929684ABCA1c.4423C= (p.Pro1475=)
c.4429C= (p.Pro1477=)
c.4249C= (p.Pro1417=)
c.4504C= (p.Pro1502=)
c.4498C= (p.Pro1500=)
c.4066C= (p.Pro1356=)
c.4366C= (p.Pro1456=)
n.4817C=
9g.104806282G>TCA374315527ABCA1c.4423C>A (p.Pro1475Thr)
c.4429C>A (p.Pro1477Thr)
c.4249C>A (p.Pro1417Thr)
c.4504C>A (p.Pro1502Thr)
c.4498C>A (p.Pro1500Thr)
c.4066C>A (p.Pro1356Thr)
c.4366C>A (p.Pro1456Thr)
n.4817C>A
9g.104806283C>ACA466504320ABCA1c.4422G>T (p.Leu1474=)
c.4428G>T (p.Leu1476=)
c.4248G>T (p.Leu1416=)
c.4503G>T (p.Leu1501=)
c.4497G>T (p.Leu1499=)
c.4065G>T (p.Leu1355=)
c.4365G>T (p.Leu1455=)
n.4816G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806283C=CA1869929703ABCA1c.4422G= (p.Leu1474=)
c.4428G= (p.Leu1476=)
c.4248G= (p.Leu1416=)
c.4503G= (p.Leu1501=)
c.4497G= (p.Leu1499=)
c.4065G= (p.Leu1355=)
c.4365G= (p.Leu1455=)
n.4816G=
9g.104806283C>GCA466504318ABCA1c.4422G>C (p.Leu1474=)
c.4428G>C (p.Leu1476=)
c.4248G>C (p.Leu1416=)
c.4503G>C (p.Leu1501=)
c.4497G>C (p.Leu1499=)
c.4065G>C (p.Leu1355=)
c.4365G>C (p.Leu1455=)
n.4816G>C
9g.104806283C>TCA466504319ABCA1c.4422G>A (p.Leu1474=)
c.4428G>A (p.Leu1476=)
c.4248G>A (p.Leu1416=)
c.4503G>A (p.Leu1501=)
c.4497G>A (p.Leu1499=)
c.4065G>A (p.Leu1355=)
c.4365G>A (p.Leu1455=)
n.4816G>A
9g.104806284A>CCA374315528ABCA1c.4421T>G (p.Leu1474Arg)
c.4427T>G (p.Leu1476Arg)
c.4247T>G (p.Leu1416Arg)
c.4502T>G (p.Leu1501Arg)
c.4496T>G (p.Leu1499Arg)
c.4064T>G (p.Leu1355Arg)
c.4364T>G (p.Leu1455Arg)
n.4815T>G
9g.104806284A>GCA374315529ABCA1c.4421T>C (p.Leu1474Pro)
c.4427T>C (p.Leu1476Pro)
c.4247T>C (p.Leu1416Pro)
c.4502T>C (p.Leu1501Pro)
c.4496T>C (p.Leu1499Pro)
c.4064T>C (p.Leu1355Pro)
c.4364T>C (p.Leu1455Pro)
n.4815T>C
 gnomAD v4
9g.104806284A>TCA374315530ABCA1c.4421T>A (p.Leu1474Gln)
c.4427T>A (p.Leu1476Gln)
c.4247T>A (p.Leu1416Gln)
c.4502T>A (p.Leu1501Gln)
c.4496T>A (p.Leu1499Gln)
c.4064T>A (p.Leu1355Gln)
c.4364T>A (p.Leu1455Gln)
n.4815T>A
 gnomAD v4
9g.104806285G>ACA5168154ABCA1c.4420C>T (p.Leu1474=)
c.4426C>T (p.Leu1476=)
c.4246C>T (p.Leu1416=)
c.4501C>T (p.Leu1501=)
c.4495C>T (p.Leu1499=)
c.4063C>T (p.Leu1355=)
c.4363C>T (p.Leu1455=)
n.4814C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806285G>CCA374315532ABCA1c.4420C>G (p.Leu1474Val)
c.4426C>G (p.Leu1476Val)
c.4246C>G (p.Leu1416Val)
c.4501C>G (p.Leu1501Val)
c.4495C>G (p.Leu1499Val)
c.4063C>G (p.Leu1355Val)
c.4363C>G (p.Leu1455Val)
n.4814C>G
9g.104806285G=CA1869929704ABCA1c.4420C= (p.Leu1474=)
c.4426C= (p.Leu1476=)
c.4246C= (p.Leu1416=)
c.4501C= (p.Leu1501=)
c.4495C= (p.Leu1499=)
c.4063C= (p.Leu1355=)
c.4363C= (p.Leu1455=)
n.4814C=
9g.104806285G>TCA374315531ABCA1c.4420C>A (p.Leu1474Met)
c.4426C>A (p.Leu1476Met)
c.4246C>A (p.Leu1416Met)
c.4501C>A (p.Leu1501Met)
c.4495C>A (p.Leu1499Met)
c.4063C>A (p.Leu1355Met)
c.4363C>A (p.Leu1455Met)
n.4814C>A
9g.104806286C>ACA374315533ABCA1c.4419G>T (p.Met1473Ile)
c.4425G>T (p.Met1475Ile)
c.4245G>T (p.Met1415Ile)
c.4500G>T (p.Met1500Ile)
c.4494G>T (p.Met1498Ile)
c.4062G>T (p.Met1354Ile)
c.4362G>T (p.Met1454Ile)
n.4813G>T
9g.104806286C>GCA374315534ABCA1c.4419G>C (p.Met1473Ile)
c.4425G>C (p.Met1475Ile)
c.4245G>C (p.Met1415Ile)
c.4500G>C (p.Met1500Ile)
c.4494G>C (p.Met1498Ile)
c.4062G>C (p.Met1354Ile)
c.4362G>C (p.Met1454Ile)
n.4813G>C
9g.104806286C>TCA374315535ABCA1c.4419G>A (p.Met1473Ile)
c.4425G>A (p.Met1475Ile)
c.4245G>A (p.Met1415Ile)
c.4500G>A (p.Met1500Ile)
c.4494G>A (p.Met1498Ile)
c.4062G>A (p.Met1354Ile)
c.4362G>A (p.Met1454Ile)
n.4813G>A
9g.104806287A>CCA374315536ABCA1c.4418T>G (p.Met1473Arg)
c.4424T>G (p.Met1475Arg)
c.4244T>G (p.Met1415Arg)
c.4499T>G (p.Met1500Arg)
c.4493T>G (p.Met1498Arg)
c.4061T>G (p.Met1354Arg)
c.4361T>G (p.Met1454Arg)
n.4812T>G
9g.104806287A>GCA374315537ABCA1c.4418T>C (p.Met1473Thr)
c.4424T>C (p.Met1475Thr)
c.4244T>C (p.Met1415Thr)
c.4499T>C (p.Met1500Thr)
c.4493T>C (p.Met1498Thr)
c.4061T>C (p.Met1354Thr)
c.4361T>C (p.Met1454Thr)
n.4812T>C
 gnomAD v4
9g.104806287A>TCA374315538ABCA1c.4418T>A (p.Met1473Lys)
c.4424T>A (p.Met1475Lys)
c.4244T>A (p.Met1415Lys)
c.4499T>A (p.Met1500Lys)
c.4493T>A (p.Met1498Lys)
c.4061T>A (p.Met1354Lys)
c.4361T>A (p.Met1454Lys)
n.4812T>A
9g.104806288T>ACA374315539ABCA1c.4417A>T (p.Met1473Leu)
c.4423A>T (p.Met1475Leu)
c.4243A>T (p.Met1415Leu)
c.4498A>T (p.Met1500Leu)
c.4492A>T (p.Met1498Leu)
c.4060A>T (p.Met1354Leu)
c.4360A>T (p.Met1454Leu)
n.4811A>T
9g.104806288T>CCA374315540ABCA1c.4417A>G (p.Met1473Val)
c.4423A>G (p.Met1475Val)
c.4243A>G (p.Met1415Val)
c.4498A>G (p.Met1500Val)
c.4492A>G (p.Met1498Val)
c.4060A>G (p.Met1354Val)
c.4360A>G (p.Met1454Val)
n.4811A>G
9g.104806288T>GCA374315541ABCA1c.4417A>C (p.Met1473Leu)
c.4423A>C (p.Met1475Leu)
c.4243A>C (p.Met1415Leu)
c.4498A>C (p.Met1500Leu)
c.4492A>C (p.Met1498Leu)
c.4060A>C (p.Met1354Leu)
c.4360A>C (p.Met1454Leu)
n.4811A>C
 gnomAD v4
9g.104806289C>ACA197370897ABCA1c.4416G>T (p.Lys1472Asn)
c.4422G>T (p.Lys1474Asn)
c.4242G>T (p.Lys1414Asn)
c.4497G>T (p.Lys1499Asn)
c.4491G>T (p.Lys1497Asn)
c.4059G>T (p.Lys1353Asn)
c.4359G>T (p.Lys1453Asn)
n.4810G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806289C=CA1869929708ABCA1c.4416G= (p.Lys1472=)
c.4422G= (p.Lys1474=)
c.4242G= (p.Lys1414=)
c.4497G= (p.Lys1499=)
c.4491G= (p.Lys1497=)
c.4059G= (p.Lys1353=)
c.4359G= (p.Lys1453=)
n.4810G=
9g.104806289C>GCA374315542ABCA1c.4416G>C (p.Lys1472Asn)
c.4422G>C (p.Lys1474Asn)
c.4242G>C (p.Lys1414Asn)
c.4497G>C (p.Lys1499Asn)
c.4491G>C (p.Lys1497Asn)
c.4059G>C (p.Lys1353Asn)
c.4359G>C (p.Lys1453Asn)
n.4810G>C
9g.104806289C>TCA466504324ABCA1c.4416G>A (p.Lys1472=)
c.4422G>A (p.Lys1474=)
c.4242G>A (p.Lys1414=)
c.4497G>A (p.Lys1499=)
c.4491G>A (p.Lys1497=)
c.4059G>A (p.Lys1353=)
c.4359G>A (p.Lys1453=)
n.4810G>A
9g.104806290T>ACA374315544ABCA1c.4415A>T (p.Lys1472Met)
c.4421A>T (p.Lys1474Met)
c.4241A>T (p.Lys1414Met)
c.4496A>T (p.Lys1499Met)
c.4490A>T (p.Lys1497Met)
c.4058A>T (p.Lys1353Met)
c.4358A>T (p.Lys1453Met)
n.4809A>T
 gnomAD v4
9g.104806290T>CCA374315545ABCA1c.4415A>G (p.Lys1472Arg)
c.4421A>G (p.Lys1474Arg)
c.4241A>G (p.Lys1414Arg)
c.4496A>G (p.Lys1499Arg)
c.4490A>G (p.Lys1497Arg)
c.4058A>G (p.Lys1353Arg)
c.4358A>G (p.Lys1453Arg)
n.4809A>G
9g.104806290T>GCA374315543ABCA1c.4415A>C (p.Lys1472Thr)
c.4421A>C (p.Lys1474Thr)
c.4241A>C (p.Lys1414Thr)
c.4496A>C (p.Lys1499Thr)
c.4490A>C (p.Lys1497Thr)
c.4058A>C (p.Lys1353Thr)
c.4358A>C (p.Lys1453Thr)
n.4809A>C
9g.104806291T>ACA374315546ABCA1c.4414A>T (p.Lys1472Ter)
c.4420A>T (p.Lys1474Ter)
c.4240A>T (p.Lys1414Ter)
c.4495A>T (p.Lys1499Ter)
c.4489A>T (p.Lys1497Ter)
c.4057A>T (p.Lys1353Ter)
c.4357A>T (p.Lys1453Ter)
n.4808A>T
9g.104806291T>CCA374315548ABCA1c.4414A>G (p.Lys1472Glu)
c.4420A>G (p.Lys1474Glu)
c.4240A>G (p.Lys1414Glu)
c.4495A>G (p.Lys1499Glu)
c.4489A>G (p.Lys1497Glu)
c.4057A>G (p.Lys1353Glu)
c.4357A>G (p.Lys1453Glu)
n.4808A>G
9g.104806291T>GCA374315547ABCA1c.4414A>C (p.Lys1472Gln)
c.4420A>C (p.Lys1474Gln)
c.4240A>C (p.Lys1414Gln)
c.4495A>C (p.Lys1499Gln)
c.4489A>C (p.Lys1497Gln)
c.4057A>C (p.Lys1353Gln)
c.4357A>C (p.Lys1453Gln)
n.4808A>C
9g.104806292C>ACA374315549ABCA1c.4413G>T (p.Lys1471Asn)
c.4419G>T (p.Lys1473Asn)
c.4239G>T (p.Lys1413Asn)
c.4494G>T (p.Lys1498Asn)
c.4488G>T (p.Lys1496Asn)
c.4056G>T (p.Lys1352Asn)
c.4356G>T (p.Lys1452Asn)
n.4807G>T
 COSMIC
9g.104806292C>GCA374315550ABCA1c.4413G>C (p.Lys1471Asn)
c.4419G>C (p.Lys1473Asn)
c.4239G>C (p.Lys1413Asn)
c.4494G>C (p.Lys1498Asn)
c.4488G>C (p.Lys1496Asn)
c.4056G>C (p.Lys1352Asn)
c.4356G>C (p.Lys1452Asn)
n.4807G>C
9g.104806292C>TCA466504328ABCA1c.4413G>A (p.Lys1471=)
c.4419G>A (p.Lys1473=)
c.4239G>A (p.Lys1413=)
c.4494G>A (p.Lys1498=)
c.4488G>A (p.Lys1496=)
c.4056G>A (p.Lys1352=)
c.4356G>A (p.Lys1452=)
n.4807G>A
9g.104806293T>ACA374315551ABCA1c.4412A>T (p.Lys1471Met)
c.4418A>T (p.Lys1473Met)
c.4238A>T (p.Lys1413Met)
c.4493A>T (p.Lys1498Met)
c.4487A>T (p.Lys1496Met)
c.4055A>T (p.Lys1352Met)
c.4355A>T (p.Lys1452Met)
n.4806A>T
9g.104806293T>CCA374315552ABCA1c.4412A>G (p.Lys1471Arg)
c.4418A>G (p.Lys1473Arg)
c.4238A>G (p.Lys1413Arg)
c.4493A>G (p.Lys1498Arg)
c.4487A>G (p.Lys1496Arg)
c.4055A>G (p.Lys1352Arg)
c.4355A>G (p.Lys1452Arg)
n.4806A>G
9g.104806293T>GCA374315553ABCA1c.4412A>C (p.Lys1471Thr)
c.4418A>C (p.Lys1473Thr)
c.4238A>C (p.Lys1413Thr)
c.4493A>C (p.Lys1498Thr)
c.4487A>C (p.Lys1496Thr)
c.4055A>C (p.Lys1352Thr)
c.4355A>C (p.Lys1452Thr)
n.4806A>C
9g.104806294T>ACA374315554ABCA1c.4411A>T (p.Lys1471Ter)
c.4417A>T (p.Lys1473Ter)
c.4237A>T (p.Lys1413Ter)
c.4492A>T (p.Lys1498Ter)
c.4486A>T (p.Lys1496Ter)
c.4054A>T (p.Lys1352Ter)
c.4354A>T (p.Lys1452Ter)
n.4805A>T
9g.104806294T>CCA374315555ABCA1c.4411A>G (p.Lys1471Glu)
c.4417A>G (p.Lys1473Glu)
c.4237A>G (p.Lys1413Glu)
c.4492A>G (p.Lys1498Glu)
c.4486A>G (p.Lys1496Glu)
c.4054A>G (p.Lys1352Glu)
c.4354A>G (p.Lys1452Glu)
n.4805A>G
9g.104806294T>GCA374315556ABCA1c.4411A>C (p.Lys1471Gln)
c.4417A>C (p.Lys1473Gln)
c.4237A>C (p.Lys1413Gln)
c.4492A>C (p.Lys1498Gln)
c.4486A>C (p.Lys1496Gln)
c.4054A>C (p.Lys1352Gln)
c.4354A>C (p.Lys1452Gln)
n.4805A>C
9g.104806295G>ACA466504332ABCA1c.4410C>T (p.Ile1470=)
c.4416C>T (p.Ile1472=)
c.4236C>T (p.Ile1412=)
c.4491C>T (p.Ile1497=)
c.4485C>T (p.Ile1495=)
c.4053C>T (p.Ile1351=)
c.4353C>T (p.Ile1451=)
n.4804C>T
 gnomAD v4
9g.104806295G>CCA374315557ABCA1c.4410C>G (p.Ile1470Met)
c.4416C>G (p.Ile1472Met)
c.4236C>G (p.Ile1412Met)
c.4491C>G (p.Ile1497Met)
c.4485C>G (p.Ile1495Met)
c.4053C>G (p.Ile1351Met)
c.4353C>G (p.Ile1451Met)
n.4804C>G
 gnomAD v4
9g.104806295G=CA1869929711ABCA1c.4410C= (p.Ile1470=)
c.4416C= (p.Ile1472=)
c.4236C= (p.Ile1412=)
c.4491C= (p.Ile1497=)
c.4485C= (p.Ile1495=)
c.4053C= (p.Ile1351=)
c.4353C= (p.Ile1451=)
n.4804C=
9g.104806295G>TCA197370921ABCA1c.4410C>A (p.Ile1470=)
c.4416C>A (p.Ile1472=)
c.4236C>A (p.Ile1412=)
c.4491C>A (p.Ile1497=)
c.4485C>A (p.Ile1495=)
c.4053C>A (p.Ile1351=)
c.4353C>A (p.Ile1451=)
n.4804C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104806296A=CA1869929715ABCA1c.4409T= (p.Ile1470=)
c.4415T= (p.Ile1472=)
c.4235T= (p.Ile1412=)
c.4490T= (p.Ile1497=)
c.4484T= (p.Ile1495=)
c.4052T= (p.Ile1351=)
c.4352T= (p.Ile1451=)
n.4803T=
9g.104806296A>CCA374315558ABCA1c.4409T>G (p.Ile1470Ser)
c.4415T>G (p.Ile1472Ser)
c.4235T>G (p.Ile1412Ser)
c.4490T>G (p.Ile1497Ser)
c.4484T>G (p.Ile1495Ser)
c.4052T>G (p.Ile1351Ser)
c.4352T>G (p.Ile1451Ser)
n.4803T>G
9g.104806296A>GCA5168155ABCA1c.4409T>C (p.Ile1470Thr)
c.4415T>C (p.Ile1472Thr)
c.4235T>C (p.Ile1412Thr)
c.4490T>C (p.Ile1497Thr)
c.4484T>C (p.Ile1495Thr)
c.4052T>C (p.Ile1351Thr)
c.4352T>C (p.Ile1451Thr)
n.4803T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806296A>TCA374315559ABCA1c.4409T>A (p.Ile1470Asn)
c.4415T>A (p.Ile1472Asn)
c.4235T>A (p.Ile1412Asn)
c.4490T>A (p.Ile1497Asn)
c.4484T>A (p.Ile1495Asn)
c.4052T>A (p.Ile1351Asn)
c.4352T>A (p.Ile1451Asn)
n.4803T>A
9g.104806297T>ACA374315562ABCA1c.4408A>T (p.Ile1470Phe)
c.4414A>T (p.Ile1472Phe)
c.4234A>T (p.Ile1412Phe)
c.4489A>T (p.Ile1497Phe)
c.4483A>T (p.Ile1495Phe)
c.4051A>T (p.Ile1351Phe)
c.4351A>T (p.Ile1451Phe)
n.4802A>T
9g.104806297T>CCA374315561ABCA1c.4408A>G (p.Ile1470Val)
c.4414A>G (p.Ile1472Val)
c.4234A>G (p.Ile1412Val)
c.4489A>G (p.Ile1497Val)
c.4483A>G (p.Ile1495Val)
c.4051A>G (p.Ile1351Val)
c.4351A>G (p.Ile1451Val)
n.4802A>G
 gnomAD v4
9g.104806297T>GCA374315560ABCA1c.4408A>C (p.Ile1470Leu)
c.4414A>C (p.Ile1472Leu)
c.4234A>C (p.Ile1412Leu)
c.4489A>C (p.Ile1497Leu)
c.4483A>C (p.Ile1495Leu)
c.4051A>C (p.Ile1351Leu)
c.4351A>C (p.Ile1451Leu)
n.4802A>C
9g.104806300dupCA2570217935ABCA1c.4408dup (p.Ile1470AsnfsTer?)
c.4414dup (p.Ile1472AsnfsTer?)
c.4234dup (p.Ile1412AsnfsTer?)
c.4489dup (p.Ile1497AsnfsTer?)
c.4483dup (p.Ile1495AsnfsTer?)
c.4051dup (p.Ile1351AsnfsTer?)
c.4351dup (p.Ile1451AsnfsTer?)
n.4802dup
9g.104806298T>ACA374315563ABCA1c.4407A>T (p.Lys1469Asn)
c.4413A>T (p.Lys1471Asn)
c.4233A>T (p.Lys1411Asn)
c.4488A>T (p.Lys1496Asn)
c.4482A>T (p.Lys1494Asn)
c.4050A>T (p.Lys1350Asn)
c.4350A>T (p.Lys1450Asn)
n.4801A>T
 dbSNP gnomAD v4
9g.104806298T>CCA466504336ABCA1c.4407A>G (p.Lys1469=)
c.4413A>G (p.Lys1471=)
c.4233A>G (p.Lys1411=)
c.4488A>G (p.Lys1496=)
c.4482A>G (p.Lys1494=)
c.4050A>G (p.Lys1350=)
c.4350A>G (p.Lys1450=)
n.4801A>G
9g.104806298T>GCA374315564ABCA1c.4407A>C (p.Lys1469Asn)
c.4413A>C (p.Lys1471Asn)
c.4233A>C (p.Lys1411Asn)
c.4488A>C (p.Lys1496Asn)
c.4482A>C (p.Lys1494Asn)
c.4050A>C (p.Lys1350Asn)
c.4350A>C (p.Lys1450Asn)
n.4801A>C
 gnomAD v4
9g.104806298T=CA1869929718ABCA1c.4407A= (p.Lys1469=)
c.4413A= (p.Lys1471=)
c.4233A= (p.Lys1411=)
c.4488A= (p.Lys1496=)
c.4482A= (p.Lys1494=)
c.4050A= (p.Lys1350=)
c.4350A= (p.Lys1450=)
n.4801A=
9g.104806299T>ACA374315565ABCA1c.4406A>T (p.Lys1469Ile)
c.4412A>T (p.Lys1471Ile)
c.4232A>T (p.Lys1411Ile)
c.4487A>T (p.Lys1496Ile)
c.4481A>T (p.Lys1494Ile)
c.4049A>T (p.Lys1350Ile)
c.4349A>T (p.Lys1450Ile)
n.4800A>T
9g.104806299T>CCA374315566ABCA1c.4406A>G (p.Lys1469Arg)
c.4412A>G (p.Lys1471Arg)
c.4232A>G (p.Lys1411Arg)
c.4487A>G (p.Lys1496Arg)
c.4481A>G (p.Lys1494Arg)
c.4049A>G (p.Lys1350Arg)
c.4349A>G (p.Lys1450Arg)
n.4800A>G
9g.104806299T>GCA374315567ABCA1c.4406A>C (p.Lys1469Thr)
c.4412A>C (p.Lys1471Thr)
c.4232A>C (p.Lys1411Thr)
c.4487A>C (p.Lys1496Thr)
c.4481A>C (p.Lys1494Thr)
c.4049A>C (p.Lys1350Thr)
c.4349A>C (p.Lys1450Thr)
n.4800A>C
9g.104806300T>ACA374315568ABCA1c.4405A>T (p.Lys1469Ter)
c.4411A>T (p.Lys1471Ter)
c.4231A>T (p.Lys1411Ter)
c.4486A>T (p.Lys1496Ter)
c.4480A>T (p.Lys1494Ter)
c.4048A>T (p.Lys1350Ter)
c.4348A>T (p.Lys1450Ter)
n.4799A>T
9g.104806300T>CCA5168156ABCA1c.4405A>G (p.Lys1469Glu)
c.4411A>G (p.Lys1471Glu)
c.4231A>G (p.Lys1411Glu)
c.4486A>G (p.Lys1496Glu)
c.4480A>G (p.Lys1494Glu)
c.4048A>G (p.Lys1350Glu)
c.4348A>G (p.Lys1450Glu)
n.4799A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806300T>GCA374315569ABCA1c.4405A>C (p.Lys1469Gln)
c.4411A>C (p.Lys1471Gln)
c.4231A>C (p.Lys1411Gln)
c.4486A>C (p.Lys1496Gln)
c.4480A>C (p.Lys1494Gln)
c.4048A>C (p.Lys1350Gln)
c.4348A>C (p.Lys1450Gln)
n.4799A>C
9g.104806300T=CA1869929725ABCA1c.4405A= (p.Lys1469=)
c.4411A= (p.Lys1471=)
c.4231A= (p.Lys1411=)
c.4486A= (p.Lys1496=)
c.4480A= (p.Lys1494=)
c.4048A= (p.Lys1350=)
c.4348A= (p.Lys1450=)
n.4799A=
9g.104806301G>ACA5168157ABCA1c.4404C>T (p.Asp1468=)
c.4410C>T (p.Asp1470=)
c.4230C>T (p.Asp1410=)
c.4485C>T (p.Asp1495=)
c.4479C>T (p.Asp1493=)
c.4047C>T (p.Asp1349=)
c.4347C>T (p.Asp1449=)
n.4798C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806301G>CCA374315570ABCA1c.4404C>G (p.Asp1468Glu)
c.4410C>G (p.Asp1470Glu)
c.4230C>G (p.Asp1410Glu)
c.4485C>G (p.Asp1495Glu)
c.4479C>G (p.Asp1493Glu)
c.4047C>G (p.Asp1349Glu)
c.4347C>G (p.Asp1449Glu)
n.4798C>G
9g.104806301G=CA1869929730ABCA1c.4404C= (p.Asp1468=)
c.4410C= (p.Asp1470=)
c.4230C= (p.Asp1410=)
c.4485C= (p.Asp1495=)
c.4479C= (p.Asp1493=)
c.4047C= (p.Asp1349=)
c.4347C= (p.Asp1449=)
n.4798C=
9g.104806301G>TCA374315571ABCA1c.4404C>A (p.Asp1468Glu)
c.4410C>A (p.Asp1470Glu)
c.4230C>A (p.Asp1410Glu)
c.4485C>A (p.Asp1495Glu)
c.4479C>A (p.Asp1493Glu)
c.4047C>A (p.Asp1349Glu)
c.4347C>A (p.Asp1449Glu)
n.4798C>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806302T>ACA374315573ABCA1c.4403A>T (p.Asp1468Val)
c.4409A>T (p.Asp1470Val)
c.4229A>T (p.Asp1410Val)
c.4484A>T (p.Asp1495Val)
c.4478A>T (p.Asp1493Val)
c.4046A>T (p.Asp1349Val)
c.4346A>T (p.Asp1449Val)
n.4797A>T
9g.104806302T>CCA374315574ABCA1c.4403A>G (p.Asp1468Gly)
c.4409A>G (p.Asp1470Gly)
c.4229A>G (p.Asp1410Gly)
c.4484A>G (p.Asp1495Gly)
c.4478A>G (p.Asp1493Gly)
c.4046A>G (p.Asp1349Gly)
c.4346A>G (p.Asp1449Gly)
n.4797A>G
9g.104806302T>GCA374315572ABCA1c.4403A>C (p.Asp1468Ala)
c.4409A>C (p.Asp1470Ala)
c.4229A>C (p.Asp1410Ala)
c.4484A>C (p.Asp1495Ala)
c.4478A>C (p.Asp1493Ala)
c.4046A>C (p.Asp1349Ala)
c.4346A>C (p.Asp1449Ala)
n.4797A>C
9g.104806303C>ACA374315575ABCA1c.4402G>T (p.Asp1468Tyr)
c.4408G>T (p.Asp1470Tyr)
c.4228G>T (p.Asp1410Tyr)
c.4483G>T (p.Asp1495Tyr)
c.4477G>T (p.Asp1493Tyr)
c.4045G>T (p.Asp1349Tyr)
c.4345G>T (p.Asp1449Tyr)
n.4796G>T
 ClinVar
9g.104806303C=CA1869929735ABCA1c.4402G= (p.Asp1468=)
c.4408G= (p.Asp1470=)
c.4228G= (p.Asp1410=)
c.4483G= (p.Asp1495=)
c.4477G= (p.Asp1493=)
c.4045G= (p.Asp1349=)
c.4345G= (p.Asp1449=)
n.4796G=
9g.104806303C>GCA374315576ABCA1c.4402G>C (p.Asp1468His)
c.4408G>C (p.Asp1470His)
c.4228G>C (p.Asp1410His)
c.4483G>C (p.Asp1495His)
c.4477G>C (p.Asp1493His)
c.4045G>C (p.Asp1349His)
c.4345G>C (p.Asp1449His)
n.4796G>C
9g.104806303C>TCA374315577ABCA1c.4402G>A (p.Asp1468Asn)
c.4408G>A (p.Asp1470Asn)
c.4228G>A (p.Asp1410Asn)
c.4483G>A (p.Asp1495Asn)
c.4477G>A (p.Asp1493Asn)
c.4045G>A (p.Asp1349Asn)
c.4345G>A (p.Asp1449Asn)
n.4796G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.104806304G>ACA5168158ABCA1c.4401C>T (p.Ser1467=)
c.4407C>T (p.Ser1469=)
c.4227C>T (p.Ser1409=)
c.4482C>T (p.Ser1494=)
c.4476C>T (p.Ser1492=)
c.4044C>T (p.Ser1348=)
c.4344C>T (p.Ser1448=)
n.4795C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806304G>CCA374315578ABCA1c.4401C>G (p.Ser1467Arg)
c.4407C>G (p.Ser1469Arg)
c.4227C>G (p.Ser1409Arg)
c.4482C>G (p.Ser1494Arg)
c.4476C>G (p.Ser1492Arg)
c.4044C>G (p.Ser1348Arg)
c.4344C>G (p.Ser1448Arg)
n.4795C>G
9g.104806304G=CA1869929736ABCA1c.4401C= (p.Ser1467=)
c.4407C= (p.Ser1469=)
c.4227C= (p.Ser1409=)
c.4482C= (p.Ser1494=)
c.4476C= (p.Ser1492=)
c.4044C= (p.Ser1348=)
c.4344C= (p.Ser1448=)
n.4795C=
9g.104806304G>TCA374315579ABCA1c.4401C>A (p.Ser1467Arg)
c.4407C>A (p.Ser1469Arg)
c.4227C>A (p.Ser1409Arg)
c.4482C>A (p.Ser1494Arg)
c.4476C>A (p.Ser1492Arg)
c.4044C>A (p.Ser1348Arg)
c.4344C>A (p.Ser1448Arg)
n.4795C>A
9g.104806305C>ACA374315580ABCA1c.4400G>T (p.Ser1467Ile)
c.4406G>T (p.Ser1469Ile)
c.4226G>T (p.Ser1409Ile)
c.4481G>T (p.Ser1494Ile)
c.4475G>T (p.Ser1492Ile)
c.4043G>T (p.Ser1348Ile)
c.4343G>T (p.Ser1448Ile)
n.4794G>T
9g.104806305C=CA1869929737ABCA1c.4400G= (p.Ser1467=)
c.4406G= (p.Ser1469=)
c.4226G= (p.Ser1409=)
c.4481G= (p.Ser1494=)
c.4475G= (p.Ser1492=)
c.4043G= (p.Ser1348=)
c.4343G= (p.Ser1448=)
n.4794G=
9g.104806305C>GCA374315581ABCA1c.4400G>C (p.Ser1467Thr)
c.4406G>C (p.Ser1469Thr)
c.4226G>C (p.Ser1409Thr)
c.4481G>C (p.Ser1494Thr)
c.4475G>C (p.Ser1492Thr)
c.4043G>C (p.Ser1348Thr)
c.4343G>C (p.Ser1448Thr)
n.4794G>C
9g.104806305C>TCA5168159ABCA1c.4400G>A (p.Ser1467Asn)
c.4406G>A (p.Ser1469Asn)
c.4226G>A (p.Ser1409Asn)
c.4481G>A (p.Ser1494Asn)
c.4475G>A (p.Ser1492Asn)
c.4043G>A (p.Ser1348Asn)
c.4343G>A (p.Ser1448Asn)
n.4794G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806306T>ACA374315582ABCA1c.4399A>T (p.Ser1467Cys)
c.4405A>T (p.Ser1469Cys)
c.4225A>T (p.Ser1409Cys)
c.4480A>T (p.Ser1494Cys)
c.4474A>T (p.Ser1492Cys)
c.4042A>T (p.Ser1348Cys)
c.4342A>T (p.Ser1448Cys)
n.4793A>T
9g.104806306T>CCA374315583ABCA1c.4399A>G (p.Ser1467Gly)
c.4405A>G (p.Ser1469Gly)
c.4225A>G (p.Ser1409Gly)
c.4480A>G (p.Ser1494Gly)
c.4474A>G (p.Ser1492Gly)
c.4042A>G (p.Ser1348Gly)
c.4342A>G (p.Ser1448Gly)
n.4793A>G
 dbSNP
9g.104806306T>GCA374315584ABCA1c.4399A>C (p.Ser1467Arg)
c.4405A>C (p.Ser1469Arg)
c.4225A>C (p.Ser1409Arg)
c.4480A>C (p.Ser1494Arg)
c.4474A>C (p.Ser1492Arg)
c.4042A>C (p.Ser1348Arg)
c.4342A>C (p.Ser1448Arg)
n.4793A>C
9g.104806306T=CA1869929741ABCA1c.4399A= (p.Ser1467=)
c.4405A= (p.Ser1469=)
c.4225A= (p.Ser1409=)
c.4480A= (p.Ser1494=)
c.4474A= (p.Ser1492=)
c.4042A= (p.Ser1348=)
c.4342A= (p.Ser1448=)
n.4793A=
9g.104806307G>ACA466504341ABCA1c.4398C>T (p.Ser1466=)
c.4404C>T (p.Ser1468=)
c.4224C>T (p.Ser1408=)
c.4479C>T (p.Ser1493=)
c.4473C>T (p.Ser1491=)
c.4041C>T (p.Ser1347=)
c.4341C>T (p.Ser1447=)
n.4792C>T
9g.104806307G>CCA374315586ABCA1c.4398C>G (p.Ser1466Arg)
c.4404C>G (p.Ser1468Arg)
c.4224C>G (p.Ser1408Arg)
c.4479C>G (p.Ser1493Arg)
c.4473C>G (p.Ser1491Arg)
c.4041C>G (p.Ser1347Arg)
c.4341C>G (p.Ser1447Arg)
n.4792C>G
9g.104806307G>TCA374315585ABCA1c.4398C>A (p.Ser1466Arg)
c.4404C>A (p.Ser1468Arg)
c.4224C>A (p.Ser1408Arg)
c.4479C>A (p.Ser1493Arg)
c.4473C>A (p.Ser1491Arg)
c.4041C>A (p.Ser1347Arg)
c.4341C>A (p.Ser1447Arg)
n.4792C>A
9g.104806308C>ACA374315587ABCA1c.4397G>T (p.Ser1466Ile)
c.4403G>T (p.Ser1468Ile)
c.4223G>T (p.Ser1408Ile)
c.4478G>T (p.Ser1493Ile)
c.4472G>T (p.Ser1491Ile)
c.4040G>T (p.Ser1347Ile)
c.4340G>T (p.Ser1447Ile)
n.4791G>T
9g.104806308C>GCA374315588ABCA1c.4397G>C (p.Ser1466Thr)
c.4403G>C (p.Ser1468Thr)
c.4223G>C (p.Ser1408Thr)
c.4478G>C (p.Ser1493Thr)
c.4472G>C (p.Ser1491Thr)
c.4040G>C (p.Ser1347Thr)
c.4340G>C (p.Ser1447Thr)
n.4791G>C
 gnomAD v4
9g.104806308C>TCA374315589ABCA1c.4397G>A (p.Ser1466Asn)
c.4403G>A (p.Ser1468Asn)
c.4223G>A (p.Ser1408Asn)
c.4478G>A (p.Ser1493Asn)
c.4472G>A (p.Ser1491Asn)
c.4040G>A (p.Ser1347Asn)
c.4340G>A (p.Ser1447Asn)
n.4791G>A
9g.104806309T>ACA374315590ABCA1c.4396A>T (p.Ser1466Cys)
c.4402A>T (p.Ser1468Cys)
c.4222A>T (p.Ser1408Cys)
c.4477A>T (p.Ser1493Cys)
c.4471A>T (p.Ser1491Cys)
c.4039A>T (p.Ser1347Cys)
c.4339A>T (p.Ser1447Cys)
n.4790A>T
9g.104806309T>CCA374315591ABCA1c.4396A>G (p.Ser1466Gly)
c.4402A>G (p.Ser1468Gly)
c.4222A>G (p.Ser1408Gly)
c.4477A>G (p.Ser1493Gly)
c.4471A>G (p.Ser1491Gly)
c.4039A>G (p.Ser1347Gly)
c.4339A>G (p.Ser1447Gly)
n.4790A>G
9g.104806309T>GCA374315592ABCA1c.4396A>C (p.Ser1466Arg)
c.4402A>C (p.Ser1468Arg)
c.4222A>C (p.Ser1408Arg)
c.4477A>C (p.Ser1493Arg)
c.4471A>C (p.Ser1491Arg)
c.4039A>C (p.Ser1347Arg)
c.4339A>C (p.Ser1447Arg)
n.4790A>C
9g.104806310A>CCA374315593ABCA1c.4395T>G (p.Cys1465Trp)
c.4401T>G (p.Cys1467Trp)
c.4221T>G (p.Cys1407Trp)
c.4476T>G (p.Cys1492Trp)
c.4470T>G (p.Cys1490Trp)
c.4038T>G (p.Cys1346Trp)
c.4338T>G (p.Cys1446Trp)
n.4789T>G
9g.104806310A>GCA466504345ABCA1c.4395T>C (p.Cys1465=)
c.4401T>C (p.Cys1467=)
c.4221T>C (p.Cys1407=)
c.4476T>C (p.Cys1492=)
c.4470T>C (p.Cys1490=)
c.4038T>C (p.Cys1346=)
c.4338T>C (p.Cys1446=)
n.4789T>C
9g.104806310A>TCA374315594ABCA1c.4395T>A (p.Cys1465Ter)
c.4401T>A (p.Cys1467Ter)
c.4221T>A (p.Cys1407Ter)
c.4476T>A (p.Cys1492Ter)
c.4470T>A (p.Cys1490Ter)
c.4038T>A (p.Cys1346Ter)
c.4338T>A (p.Cys1446Ter)
n.4789T>A
9g.104806311C>ACA374315595ABCA1c.4394G>T (p.Cys1465Phe)
c.4400G>T (p.Cys1467Phe)
c.4220G>T (p.Cys1407Phe)
c.4475G>T (p.Cys1492Phe)
c.4469G>T (p.Cys1490Phe)
c.4037G>T (p.Cys1346Phe)
c.4337G>T (p.Cys1446Phe)
n.4788G>T
 gnomAD v4
9g.104806311C>GCA374315596ABCA1c.4394G>C (p.Cys1465Ser)
c.4400G>C (p.Cys1467Ser)
c.4220G>C (p.Cys1407Ser)
c.4475G>C (p.Cys1492Ser)
c.4469G>C (p.Cys1490Ser)
c.4037G>C (p.Cys1346Ser)
c.4337G>C (p.Cys1446Ser)
n.4788G>C
9g.104806311C>TCA374315597ABCA1c.4394G>A (p.Cys1465Tyr)
c.4400G>A (p.Cys1467Tyr)
c.4220G>A (p.Cys1407Tyr)
c.4475G>A (p.Cys1492Tyr)
c.4469G>A (p.Cys1490Tyr)
c.4037G>A (p.Cys1346Tyr)
c.4337G>A (p.Cys1446Tyr)
n.4788G>A
9g.104806312A>CCA374315598ABCA1c.4393T>G (p.Cys1465Gly)
c.4399T>G (p.Cys1467Gly)
c.4219T>G (p.Cys1407Gly)
c.4474T>G (p.Cys1492Gly)
c.4468T>G (p.Cys1490Gly)
c.4036T>G (p.Cys1346Gly)
c.4336T>G (p.Cys1446Gly)
n.4787T>G
9g.104806312A>GCA374315599ABCA1c.4393T>C (p.Cys1465Arg)
c.4399T>C (p.Cys1467Arg)
c.4219T>C (p.Cys1407Arg)
c.4474T>C (p.Cys1492Arg)
c.4468T>C (p.Cys1490Arg)
c.4036T>C (p.Cys1346Arg)
c.4336T>C (p.Cys1446Arg)
n.4787T>C
9g.104806312A>TCA374315600ABCA1c.4393T>A (p.Cys1465Ser)
c.4399T>A (p.Cys1467Ser)
c.4219T>A (p.Cys1407Ser)
c.4474T>A (p.Cys1492Ser)
c.4468T>A (p.Cys1490Ser)
c.4036T>A (p.Cys1346Ser)
c.4336T>A (p.Cys1446Ser)
n.4787T>A
9g.104806313C>ACA374315602ABCA1c.4392G>T (p.Gln1464His)
c.4398G>T (p.Gln1466His)
c.4218G>T (p.Gln1406His)
c.4473G>T (p.Gln1491His)
c.4467G>T (p.Gln1489His)
c.4035G>T (p.Gln1345His)
c.4335G>T (p.Gln1445His)
n.4786G>T
9g.104806313C>GCA374315601ABCA1c.4392G>C (p.Gln1464His)
c.4398G>C (p.Gln1466His)
c.4218G>C (p.Gln1406His)
c.4473G>C (p.Gln1491His)
c.4467G>C (p.Gln1489His)
c.4035G>C (p.Gln1345His)
c.4335G>C (p.Gln1445His)
n.4786G>C
 gnomAD v4
9g.104806313C>TCA466504348ABCA1c.4392G>A (p.Gln1464=)
c.4398G>A (p.Gln1466=)
c.4218G>A (p.Gln1406=)
c.4473G>A (p.Gln1491=)
c.4467G>A (p.Gln1489=)
c.4035G>A (p.Gln1345=)
c.4335G>A (p.Gln1445=)
n.4786G>A
9g.104806314T>ACA374315603ABCA1c.4391A>T (p.Gln1464Leu)
c.4397A>T (p.Gln1466Leu)
c.4217A>T (p.Gln1406Leu)
c.4472A>T (p.Gln1491Leu)
c.4466A>T (p.Gln1489Leu)
c.4034A>T (p.Gln1345Leu)
c.4334A>T (p.Gln1445Leu)
n.4785A>T
 gnomAD v4
9g.104806314T>CCA5168160ABCA1c.4391A>G (p.Gln1464Arg)
c.4397A>G (p.Gln1466Arg)
c.4217A>G (p.Gln1406Arg)
c.4472A>G (p.Gln1491Arg)
c.4466A>G (p.Gln1489Arg)
c.4034A>G (p.Gln1345Arg)
c.4334A>G (p.Gln1445Arg)
n.4785A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806314T>GCA374315604ABCA1c.4391A>C (p.Gln1464Pro)
c.4397A>C (p.Gln1466Pro)
c.4217A>C (p.Gln1406Pro)
c.4472A>C (p.Gln1491Pro)
c.4466A>C (p.Gln1489Pro)
c.4034A>C (p.Gln1345Pro)
c.4334A>C (p.Gln1445Pro)
n.4785A>C
9g.104806314T=CA1869929771ABCA1c.4391A= (p.Gln1464=)
c.4397A= (p.Gln1466=)
c.4217A= (p.Gln1406=)
c.4472A= (p.Gln1491=)
c.4466A= (p.Gln1489=)
c.4034A= (p.Gln1345=)
c.4334A= (p.Gln1445=)
n.4785A=
9g.104806315G>ACA374315605ABCA1c.4390C>T (p.Gln1464Ter)
c.4396C>T (p.Gln1466Ter)
c.4216C>T (p.Gln1406Ter)
c.4471C>T (p.Gln1491Ter)
c.4465C>T (p.Gln1489Ter)
c.4033C>T (p.Gln1345Ter)
c.4333C>T (p.Gln1445Ter)
n.4784C>T
9g.104806315G>CCA374315606ABCA1c.4390C>G (p.Gln1464Glu)
c.4396C>G (p.Gln1466Glu)
c.4216C>G (p.Gln1406Glu)
c.4471C>G (p.Gln1491Glu)
c.4465C>G (p.Gln1489Glu)
c.4033C>G (p.Gln1345Glu)
c.4333C>G (p.Gln1445Glu)
n.4784C>G
9g.104806315G>TCA374315607ABCA1c.4390C>A (p.Gln1464Lys)
c.4396C>A (p.Gln1466Lys)
c.4216C>A (p.Gln1406Lys)
c.4471C>A (p.Gln1491Lys)
c.4465C>A (p.Gln1489Lys)
c.4033C>A (p.Gln1345Lys)
c.4333C>A (p.Gln1445Lys)
n.4784C>A
9g.104806316G>ACA466504349ABCA1c.4389C>T (p.Cys1463=)
c.4395C>T (p.Cys1465=)
c.4215C>T (p.Cys1405=)
c.4470C>T (p.Cys1490=)
c.4464C>T (p.Cys1488=)
c.4032C>T (p.Cys1344=)
c.4332C>T (p.Cys1444=)
n.4783C>T
 dbSNP
9g.104806316G>CCA374315608ABCA1c.4389C>G (p.Cys1463Trp)
c.4395C>G (p.Cys1465Trp)
c.4215C>G (p.Cys1405Trp)
c.4470C>G (p.Cys1490Trp)
c.4464C>G (p.Cys1488Trp)
c.4032C>G (p.Cys1344Trp)
c.4332C>G (p.Cys1444Trp)
n.4783C>G
9g.104806316G=CA1869929778ABCA1c.4389C= (p.Cys1463=)
c.4395C= (p.Cys1465=)
c.4215C= (p.Cys1405=)
c.4470C= (p.Cys1490=)
c.4464C= (p.Cys1488=)
c.4032C= (p.Cys1344=)
c.4332C= (p.Cys1444=)
n.4783C=
9g.104806316G>TCA374315609ABCA1c.4389C>A (p.Cys1463Ter)
c.4395C>A (p.Cys1465Ter)
c.4215C>A (p.Cys1405Ter)
c.4470C>A (p.Cys1490Ter)
c.4464C>A (p.Cys1488Ter)
c.4032C>A (p.Cys1344Ter)
c.4332C>A (p.Cys1444Ter)
n.4783C>A
9g.104806317C>ACA374315610ABCA1c.4388G>T (p.Cys1463Phe)
c.4394G>T (p.Cys1465Phe)
c.4214G>T (p.Cys1405Phe)
c.4469G>T (p.Cys1490Phe)
c.4463G>T (p.Cys1488Phe)
c.4031G>T (p.Cys1344Phe)
c.4331G>T (p.Cys1444Phe)
n.4782G>T
9g.104806317C=CA1869929781ABCA1c.4388G= (p.Cys1463=)
c.4394G= (p.Cys1465=)
c.4214G= (p.Cys1405=)
c.4469G= (p.Cys1490=)
c.4463G= (p.Cys1488=)
c.4031G= (p.Cys1344=)
c.4331G= (p.Cys1444=)
n.4782G=
9g.104806317C>GCA374315611ABCA1c.4388G>C (p.Cys1463Ser)
c.4394G>C (p.Cys1465Ser)
c.4214G>C (p.Cys1405Ser)
c.4469G>C (p.Cys1490Ser)
c.4463G>C (p.Cys1488Ser)
c.4031G>C (p.Cys1344Ser)
c.4331G>C (p.Cys1444Ser)
n.4782G>C
9g.104806317C>TCA5168161ABCA1c.4388G>A (p.Cys1463Tyr)
c.4394G>A (p.Cys1465Tyr)
c.4214G>A (p.Cys1405Tyr)
c.4469G>A (p.Cys1490Tyr)
c.4463G>A (p.Cys1488Tyr)
c.4031G>A (p.Cys1344Tyr)
c.4331G>A (p.Cys1444Tyr)
n.4782G>A
 dbSNP ExAC gnomAD v2
9g.104806318A=CA1869929784ABCA1c.4387T= (p.Cys1463=)
c.4393T= (p.Cys1465=)
c.4213T= (p.Cys1405=)
c.4468T= (p.Cys1490=)
c.4462T= (p.Cys1488=)
c.4030T= (p.Cys1344=)
c.4330T= (p.Cys1444=)
n.4781T=
9g.104806318A>CCA374315612ABCA1c.4387T>G (p.Cys1463Gly)
c.4393T>G (p.Cys1465Gly)
c.4213T>G (p.Cys1405Gly)
c.4468T>G (p.Cys1490Gly)
c.4462T>G (p.Cys1488Gly)
c.4030T>G (p.Cys1344Gly)
c.4330T>G (p.Cys1444Gly)
n.4781T>G
9g.104806318A>GCA374315613ABCA1c.4387T>C (p.Cys1463Arg)
c.4393T>C (p.Cys1465Arg)
c.4213T>C (p.Cys1405Arg)
c.4468T>C (p.Cys1490Arg)
c.4462T>C (p.Cys1488Arg)
c.4030T>C (p.Cys1344Arg)
c.4330T>C (p.Cys1444Arg)
n.4781T>C
9g.104806318A>TCA374315614ABCA1c.4387T>A (p.Cys1463Ser)
c.4393T>A (p.Cys1465Ser)
c.4213T>A (p.Cys1405Ser)
c.4468T>A (p.Cys1490Ser)
c.4462T>A (p.Cys1488Ser)
c.4030T>A (p.Cys1344Ser)
c.4330T>A (p.Cys1444Ser)
n.4781T>A
9g.104806318_104806319insGGCA1869929789ABCA1c.4386_4387insCC (p.Cys1463ProfsTer?)
c.4392_4393insCC (p.Cys1465ProfsTer?)
c.4212_4213insCC (p.Cys1405ProfsTer?)
c.4467_4468insCC (p.Cys1490ProfsTer?)
c.4461_4462insCC (p.Cys1488ProfsTer?)
c.4029_4030insCC (p.Cys1344ProfsTer?)
c.4329_4330insCC (p.Cys1444ProfsTer?)
n.4780_4781insCC
 dbSNP
9g.104806319T>ACA466504351ABCA1c.4386A>T (p.Ala1462=)
c.4392A>T (p.Ala1464=)
c.4212A>T (p.Ala1404=)
c.4467A>T (p.Ala1489=)
c.4461A>T (p.Ala1487=)
c.4029A>T (p.Ala1343=)
c.4329A>T (p.Ala1443=)
n.4780A>T
9g.104806319T>CCA466504352ABCA1c.4386A>G (p.Ala1462=)
c.4392A>G (p.Ala1464=)
c.4212A>G (p.Ala1404=)
c.4467A>G (p.Ala1489=)
c.4461A>G (p.Ala1487=)
c.4029A>G (p.Ala1343=)
c.4329A>G (p.Ala1443=)
n.4780A>G
9g.104806319T>GCA466504353ABCA1c.4386A>C (p.Ala1462=)
c.4392A>C (p.Ala1464=)
c.4212A>C (p.Ala1404=)
c.4467A>C (p.Ala1489=)
c.4461A>C (p.Ala1487=)
c.4029A>C (p.Ala1343=)
c.4329A>C (p.Ala1443=)
n.4780A>C
9g.104806320G>ACA374315617ABCA1c.4385C>T (p.Ala1462Val)
c.4391C>T (p.Ala1464Val)
c.4211C>T (p.Ala1404Val)
c.4466C>T (p.Ala1489Val)
c.4460C>T (p.Ala1487Val)
c.4028C>T (p.Ala1343Val)
c.4328C>T (p.Ala1443Val)
n.4779C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104806320G>CCA374315616ABCA1c.4385C>G (p.Ala1462Gly)
c.4391C>G (p.Ala1464Gly)
c.4211C>G (p.Ala1404Gly)
c.4466C>G (p.Ala1489Gly)
c.4460C>G (p.Ala1487Gly)
c.4028C>G (p.Ala1343Gly)
c.4328C>G (p.Ala1443Gly)
n.4779C>G
9g.104806320G=CA1869929796ABCA1c.4385C= (p.Ala1462=)
c.4391C= (p.Ala1464=)
c.4211C= (p.Ala1404=)
c.4466C= (p.Ala1489=)
c.4460C= (p.Ala1487=)
c.4028C= (p.Ala1343=)
c.4328C= (p.Ala1443=)
n.4779C=
9g.104806320G>TCA374315615ABCA1c.4385C>A (p.Ala1462Glu)
c.4391C>A (p.Ala1464Glu)
c.4211C>A (p.Ala1404Glu)
c.4466C>A (p.Ala1489Glu)
c.4460C>A (p.Ala1487Glu)
c.4028C>A (p.Ala1343Glu)
c.4328C>A (p.Ala1443Glu)
n.4779C>A
 gnomAD v4
9g.104806320_104806321delinsGCCA1869929793ABCA1c.4384_4385delinsGC (p.Ala1462=)
c.4390_4391delinsGC (p.Ala1464=)
c.4210_4211delinsGC (p.Ala1404=)
c.4465_4466delinsGC (p.Ala1489=)
c.4459_4460delinsGC (p.Ala1487=)
c.4027_4028delinsGC (p.Ala1343=)
c.4327_4328delinsGC (p.Ala1443=)
n.4778_4779delinsGC
9g.104806321delCA1869929805ABCA1c.4384del (p.Ala1462HisfsTer?)
c.4390del (p.Ala1464HisfsTer?)
c.4210del (p.Ala1404HisfsTer?)
c.4465del (p.Ala1489HisfsTer?)
c.4459del (p.Ala1487HisfsTer?)
c.4027del (p.Ala1343HisfsTer?)
c.4327del (p.Ala1443HisfsTer?)
n.4778del
 dbSNP
9g.104806321C>ACA374315618ABCA1c.4384G>T (p.Ala1462Ser)
c.4390G>T (p.Ala1464Ser)
c.4210G>T (p.Ala1404Ser)
c.4465G>T (p.Ala1489Ser)
c.4459G>T (p.Ala1487Ser)
c.4027G>T (p.Ala1343Ser)
c.4327G>T (p.Ala1443Ser)
n.4778G>T
 gnomAD v4
9g.104806321C>GCA374315619ABCA1c.4384G>C (p.Ala1462Pro)
c.4390G>C (p.Ala1464Pro)
c.4210G>C (p.Ala1404Pro)
c.4465G>C (p.Ala1489Pro)
c.4459G>C (p.Ala1487Pro)
c.4027G>C (p.Ala1343Pro)
c.4327G>C (p.Ala1443Pro)
n.4778G>C
9g.104806321C>TCA374315620ABCA1c.4384G>A (p.Ala1462Thr)
c.4390G>A (p.Ala1464Thr)
c.4210G>A (p.Ala1404Thr)
c.4465G>A (p.Ala1489Thr)
c.4459G>A (p.Ala1487Thr)
c.4027G>A (p.Ala1343Thr)
c.4327G>A (p.Ala1443Thr)
n.4778G>A
9g.104806322A>CCA466504354ABCA1c.4383T>G (p.Pro1461=)
c.4389T>G (p.Pro1463=)
c.4209T>G (p.Pro1403=)
c.4464T>G (p.Pro1488=)
c.4458T>G (p.Pro1486=)
c.4026T>G (p.Pro1342=)
c.4326T>G (p.Pro1442=)
n.4777T>G
9g.104806322A>GCA466504356ABCA1c.4383T>C (p.Pro1461=)
c.4389T>C (p.Pro1463=)
c.4209T>C (p.Pro1403=)
c.4464T>C (p.Pro1488=)
c.4458T>C (p.Pro1486=)
c.4026T>C (p.Pro1342=)
c.4326T>C (p.Pro1442=)
n.4777T>C
9g.104806322A>TCA466504355ABCA1c.4383T>A (p.Pro1461=)
c.4389T>A (p.Pro1463=)
c.4209T>A (p.Pro1403=)
c.4464T>A (p.Pro1488=)
c.4458T>A (p.Pro1486=)
c.4026T>A (p.Pro1342=)
c.4326T>A (p.Pro1442=)
n.4777T>A
9g.104806323G>ACA374315621ABCA1c.4382C>T (p.Pro1461Leu)
c.4388C>T (p.Pro1463Leu)
c.4208C>T (p.Pro1403Leu)
c.4463C>T (p.Pro1488Leu)
c.4457C>T (p.Pro1486Leu)
c.4025C>T (p.Pro1342Leu)
c.4325C>T (p.Pro1442Leu)
n.4776C>T
 ClinVar gnomAD v4
9g.104806323G>CCA374315622ABCA1c.4382C>G (p.Pro1461Arg)
c.4388C>G (p.Pro1463Arg)
c.4208C>G (p.Pro1403Arg)
c.4463C>G (p.Pro1488Arg)
c.4457C>G (p.Pro1486Arg)
c.4025C>G (p.Pro1342Arg)
c.4325C>G (p.Pro1442Arg)
n.4776C>G
9g.104806323G=CA1869929809ABCA1c.4382C= (p.Pro1461=)
c.4388C= (p.Pro1463=)
c.4208C= (p.Pro1403=)
c.4463C= (p.Pro1488=)
c.4457C= (p.Pro1486=)
c.4025C= (p.Pro1342=)
c.4325C= (p.Pro1442=)
n.4776C=
9g.104806323G>TCA374315623ABCA1c.4382C>A (p.Pro1461His)
c.4388C>A (p.Pro1463His)
c.4208C>A (p.Pro1403His)
c.4463C>A (p.Pro1488His)
c.4457C>A (p.Pro1486His)
c.4025C>A (p.Pro1342His)
c.4325C>A (p.Pro1442His)
n.4776C>A
 dbSNP
9g.104806324G>ACA374315624ABCA1c.4381C>T (p.Pro1461Ser)
c.4387C>T (p.Pro1463Ser)
c.4207C>T (p.Pro1403Ser)
c.4462C>T (p.Pro1488Ser)
c.4456C>T (p.Pro1486Ser)
c.4024C>T (p.Pro1342Ser)
c.4324C>T (p.Pro1442Ser)
n.4775C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806324G>CCA374315625ABCA1c.4381C>G (p.Pro1461Ala)
c.4387C>G (p.Pro1463Ala)
c.4207C>G (p.Pro1403Ala)
c.4462C>G (p.Pro1488Ala)
c.4456C>G (p.Pro1486Ala)
c.4024C>G (p.Pro1342Ala)
c.4324C>G (p.Pro1442Ala)
n.4775C>G
9g.104806324G=CA1869929821ABCA1c.4381C= (p.Pro1461=)
c.4387C= (p.Pro1463=)
c.4207C= (p.Pro1403=)
c.4462C= (p.Pro1488=)
c.4456C= (p.Pro1486=)
c.4024C= (p.Pro1342=)
c.4324C= (p.Pro1442=)
n.4775C=
9g.104806324G>TCA374315626ABCA1c.4381C>A (p.Pro1461Thr)
c.4387C>A (p.Pro1463Thr)
c.4207C>A (p.Pro1403Thr)
c.4462C>A (p.Pro1488Thr)
c.4456C>A (p.Pro1486Thr)
c.4024C>A (p.Pro1342Thr)
c.4324C>A (p.Pro1442Thr)
n.4775C>A
9g.104806325T>ACA466504360ABCA1c.4380A>T (p.Ser1460=)
c.4386A>T (p.Ser1462=)
c.4206A>T (p.Ser1402=)
c.4461A>T (p.Ser1487=)
c.4455A>T (p.Ser1485=)
c.4023A>T (p.Ser1341=)
c.4323A>T (p.Ser1441=)
n.4774A>T
9g.104806325T>CCA466504361ABCA1c.4380A>G (p.Ser1460=)
c.4386A>G (p.Ser1462=)
c.4206A>G (p.Ser1402=)
c.4461A>G (p.Ser1487=)
c.4455A>G (p.Ser1485=)
c.4023A>G (p.Ser1341=)
c.4323A>G (p.Ser1441=)
n.4774A>G
9g.104806325T>GCA466504362ABCA1c.4380A>C (p.Ser1460=)
c.4386A>C (p.Ser1462=)
c.4206A>C (p.Ser1402=)
c.4461A>C (p.Ser1487=)
c.4455A>C (p.Ser1485=)
c.4023A>C (p.Ser1341=)
c.4323A>C (p.Ser1441=)
n.4774A>C
 dbSNP
9g.104806325T=CA1869929830ABCA1c.4380A= (p.Ser1460=)
c.4386A= (p.Ser1462=)
c.4206A= (p.Ser1402=)
c.4461A= (p.Ser1487=)
c.4455A= (p.Ser1485=)
c.4023A= (p.Ser1341=)
c.4323A= (p.Ser1441=)
n.4774A=
9g.104806326G>ACA5168162ABCA1c.4379C>T (p.Ser1460Leu)
c.4385C>T (p.Ser1462Leu)
c.4205C>T (p.Ser1402Leu)
c.4460C>T (p.Ser1487Leu)
c.4454C>T (p.Ser1485Leu)
c.4022C>T (p.Ser1341Leu)
c.4322C>T (p.Ser1441Leu)
n.4773C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806326G>CCA374315627ABCA1c.4379C>G (p.Ser1460Ter)
c.4385C>G (p.Ser1462Ter)
c.4205C>G (p.Ser1402Ter)
c.4460C>G (p.Ser1487Ter)
c.4454C>G (p.Ser1485Ter)
c.4022C>G (p.Ser1341Ter)
c.4322C>G (p.Ser1441Ter)
n.4773C>G
9g.104806326G=CA1869929840ABCA1c.4379C= (p.Ser1460=)
c.4385C= (p.Ser1462=)
c.4205C= (p.Ser1402=)
c.4460C= (p.Ser1487=)
c.4454C= (p.Ser1485=)
c.4022C= (p.Ser1341=)
c.4322C= (p.Ser1441=)
n.4773C=
9g.104806326G>TCA374315628ABCA1c.4379C>A (p.Ser1460Ter)
c.4385C>A (p.Ser1462Ter)
c.4205C>A (p.Ser1402Ter)
c.4460C>A (p.Ser1487Ter)
c.4454C>A (p.Ser1485Ter)
c.4022C>A (p.Ser1341Ter)
c.4322C>A (p.Ser1441Ter)
n.4773C>A
 dbSNP
9g.104806326_104806328delinsGAACA1869929837ABCA1c.4377_4379delinsTTC (p.Pro1459=)
c.4383_4385delinsTTC (p.Pro1461=)
c.4203_4205delinsTTC (p.Pro1401=)
c.4458_4460delinsTTC (p.Pro1486=)
c.4452_4454delinsTTC (p.Pro1484=)
c.4020_4022delinsTTC (p.Pro1340=)
c.4320_4322delinsTTC (p.Pro1440=)
n.4771_4773delinsTTC
9g.104806327A>CCA374315631ABCA1c.4378T>G (p.Ser1460Ala)
c.4384T>G (p.Ser1462Ala)
c.4204T>G (p.Ser1402Ala)
c.4459T>G (p.Ser1487Ala)
c.4453T>G (p.Ser1485Ala)
c.4021T>G (p.Ser1341Ala)
c.4321T>G (p.Ser1441Ala)
n.4772T>G
9g.104806327A>GCA374315630ABCA1c.4378T>C (p.Ser1460Pro)
c.4384T>C (p.Ser1462Pro)
c.4204T>C (p.Ser1402Pro)
c.4459T>C (p.Ser1487Pro)
c.4453T>C (p.Ser1485Pro)
c.4021T>C (p.Ser1341Pro)
c.4321T>C (p.Ser1441Pro)
n.4772T>C
9g.104806327A>TCA374315629ABCA1c.4378T>A (p.Ser1460Thr)
c.4384T>A (p.Ser1462Thr)
c.4204T>A (p.Ser1402Thr)
c.4459T>A (p.Ser1487Thr)
c.4453T>A (p.Ser1485Thr)
c.4021T>A (p.Ser1341Thr)
c.4321T>A (p.Ser1441Thr)
n.4772T>A
9g.104806327_104806328delCA1869929843ABCA1c.4377_4378del (p.Ser1460ThrfsTer6)
c.4383_4384del (p.Ser1462ThrfsTer6)
c.4203_4204del (p.Ser1402ThrfsTer6)
c.4458_4459del (p.Ser1487ThrfsTer6)
c.4452_4453del (p.Ser1485ThrfsTer6)
c.4020_4021del (p.Ser1341ThrfsTer6)
c.4320_4321del (p.Ser1441ThrfsTer6)
n.4771_4772del
 dbSNP
9g.104806328A=CA1869929846ABCA1c.4377T= (p.Pro1459=)
c.4383T= (p.Pro1461=)
c.4203T= (p.Pro1401=)
c.4458T= (p.Pro1486=)
c.4452T= (p.Pro1484=)
c.4020T= (p.Pro1340=)
c.4320T= (p.Pro1440=)
n.4771T=
9g.104806328A>CCA466504366ABCA1c.4377T>G (p.Pro1459=)
c.4383T>G (p.Pro1461=)
c.4203T>G (p.Pro1401=)
c.4458T>G (p.Pro1486=)
c.4452T>G (p.Pro1484=)
c.4020T>G (p.Pro1340=)
c.4320T>G (p.Pro1440=)
n.4771T>G
9g.104806328A>GCA466504367ABCA1c.4377T>C (p.Pro1459=)
c.4383T>C (p.Pro1461=)
c.4203T>C (p.Pro1401=)
c.4458T>C (p.Pro1486=)
c.4452T>C (p.Pro1484=)
c.4020T>C (p.Pro1340=)
c.4320T>C (p.Pro1440=)
n.4771T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104806328A>TCA466504368ABCA1c.4377T>A (p.Pro1459=)
c.4383T>A (p.Pro1461=)
c.4203T>A (p.Pro1401=)
c.4458T>A (p.Pro1486=)
c.4452T>A (p.Pro1484=)
c.4020T>A (p.Pro1340=)
c.4320T>A (p.Pro1440=)
n.4771T>A
9g.104806329G>ACA374315632ABCA1c.4376C>T (p.Pro1459Leu)
c.4382C>T (p.Pro1461Leu)
c.4202C>T (p.Pro1401Leu)
c.4457C>T (p.Pro1486Leu)
c.4451C>T (p.Pro1484Leu)
c.4019C>T (p.Pro1340Leu)
c.4319C>T (p.Pro1440Leu)
n.4770C>T
9g.104806329G>CCA374315633ABCA1c.4376C>G (p.Pro1459Arg)
c.4382C>G (p.Pro1461Arg)
c.4202C>G (p.Pro1401Arg)
c.4457C>G (p.Pro1486Arg)
c.4451C>G (p.Pro1484Arg)
c.4019C>G (p.Pro1340Arg)
c.4319C>G (p.Pro1440Arg)
n.4770C>G
9g.104806329G>TCA374315634ABCA1c.4376C>A (p.Pro1459His)
c.4382C>A (p.Pro1461His)
c.4202C>A (p.Pro1401His)
c.4457C>A (p.Pro1486His)
c.4451C>A (p.Pro1484His)
c.4019C>A (p.Pro1340His)
c.4319C>A (p.Pro1440His)
n.4770C>A
9g.104806330G>ACA374315635ABCA1c.4375C>T (p.Pro1459Ser)
c.4381C>T (p.Pro1461Ser)
c.4201C>T (p.Pro1401Ser)
c.4456C>T (p.Pro1486Ser)
c.4450C>T (p.Pro1484Ser)
c.4018C>T (p.Pro1340Ser)
c.4318C>T (p.Pro1440Ser)
n.4769C>T
9g.104806330G>CCA374315636ABCA1c.4375C>G (p.Pro1459Ala)
c.4381C>G (p.Pro1461Ala)
c.4201C>G (p.Pro1401Ala)
c.4456C>G (p.Pro1486Ala)
c.4450C>G (p.Pro1484Ala)
c.4018C>G (p.Pro1340Ala)
c.4318C>G (p.Pro1440Ala)
n.4769C>G
9g.104806330G>TCA374315637ABCA1c.4375C>A (p.Pro1459Thr)
c.4381C>A (p.Pro1461Thr)
c.4201C>A (p.Pro1401Thr)
c.4456C>A (p.Pro1486Thr)
c.4450C>A (p.Pro1484Thr)
c.4018C>A (p.Pro1340Thr)
c.4318C>A (p.Pro1440Thr)
n.4769C>A
9g.104806331G>ACA466504370ABCA1c.4374C>T (p.Asn1458=)
c.4380C>T (p.Asn1460=)
c.4200C>T (p.Asn1400=)
c.4455C>T (p.Asn1485=)
c.4449C>T (p.Asn1483=)
c.4017C>T (p.Asn1339=)
c.4317C>T (p.Asn1439=)
n.4768C>T
 gnomAD v4 COSMIC
9g.104806331G>CCA374315638ABCA1c.4374C>G (p.Asn1458Lys)
c.4380C>G (p.Asn1460Lys)
c.4200C>G (p.Asn1400Lys)
c.4455C>G (p.Asn1485Lys)
c.4449C>G (p.Asn1483Lys)
c.4017C>G (p.Asn1339Lys)
c.4317C>G (p.Asn1439Lys)
n.4768C>G
9g.104806331G>TCA374315639ABCA1c.4374C>A (p.Asn1458Lys)
c.4380C>A (p.Asn1460Lys)
c.4200C>A (p.Asn1400Lys)
c.4455C>A (p.Asn1485Lys)
c.4449C>A (p.Asn1483Lys)
c.4017C>A (p.Asn1339Lys)
c.4317C>A (p.Asn1439Lys)
n.4768C>A
9g.104806332T>ACA374315640ABCA1c.4373A>T (p.Asn1458Ile)
c.4379A>T (p.Asn1460Ile)
c.4199A>T (p.Asn1400Ile)
c.4454A>T (p.Asn1485Ile)
c.4448A>T (p.Asn1483Ile)
c.4016A>T (p.Asn1339Ile)
c.4316A>T (p.Asn1439Ile)
n.4767A>T
9g.104806332T>CCA374315641ABCA1c.4373A>G (p.Asn1458Ser)
c.4379A>G (p.Asn1460Ser)
c.4199A>G (p.Asn1400Ser)
c.4454A>G (p.Asn1485Ser)
c.4448A>G (p.Asn1483Ser)
c.4016A>G (p.Asn1339Ser)
c.4316A>G (p.Asn1439Ser)
n.4767A>G
 ClinVar gnomAD v4
9g.104806332T>GCA374315642ABCA1c.4373A>C (p.Asn1458Thr)
c.4379A>C (p.Asn1460Thr)
c.4199A>C (p.Asn1400Thr)
c.4454A>C (p.Asn1485Thr)
c.4448A>C (p.Asn1483Thr)
c.4016A>C (p.Asn1339Thr)
c.4316A>C (p.Asn1439Thr)
n.4767A>C
 dbSNP
9g.104806332T=CA1869929853ABCA1c.4373A= (p.Asn1458=)
c.4379A= (p.Asn1460=)
c.4199A= (p.Asn1400=)
c.4454A= (p.Asn1485=)
c.4448A= (p.Asn1483=)
c.4016A= (p.Asn1339=)
c.4316A= (p.Asn1439=)
n.4767A=
9g.104806333T>ACA374315643ABCA1c.4372A>T (p.Asn1458Tyr)
c.4378A>T (p.Asn1460Tyr)
c.4198A>T (p.Asn1400Tyr)
c.4453A>T (p.Asn1485Tyr)
c.4447A>T (p.Asn1483Tyr)
c.4015A>T (p.Asn1339Tyr)
c.4315A>T (p.Asn1439Tyr)
n.4766A>T
9g.104806333T>CCA374315644ABCA1c.4372A>G (p.Asn1458Asp)
c.4378A>G (p.Asn1460Asp)
c.4198A>G (p.Asn1400Asp)
c.4453A>G (p.Asn1485Asp)
c.4447A>G (p.Asn1483Asp)
c.4015A>G (p.Asn1339Asp)
c.4315A>G (p.Asn1439Asp)
n.4766A>G
9g.104806333T>GCA374315645ABCA1c.4372A>C (p.Asn1458His)
c.4378A>C (p.Asn1460His)
c.4198A>C (p.Asn1400His)
c.4453A>C (p.Asn1485His)
c.4447A>C (p.Asn1483His)
c.4015A>C (p.Asn1339His)
c.4315A>C (p.Asn1439His)
n.4766A>C
9g.104806334C>ACA374315646ABCA1c.4371G>T (p.Gln1457His)
c.4377G>T (p.Gln1459His)
c.4197G>T (p.Gln1399His)
c.4452G>T (p.Gln1484His)
c.4446G>T (p.Gln1482His)
c.4014G>T (p.Gln1338His)
c.4314G>T (p.Gln1438His)
n.4765G>T
9g.104806334C>GCA374315647ABCA1c.4371G>C (p.Gln1457His)
c.4377G>C (p.Gln1459His)
c.4197G>C (p.Gln1399His)
c.4452G>C (p.Gln1484His)
c.4446G>C (p.Gln1482His)
c.4014G>C (p.Gln1338His)
c.4314G>C (p.Gln1438His)
n.4765G>C
9g.104806334C>TCA466504372ABCA1c.4371G>A (p.Gln1457=)
c.4377G>A (p.Gln1459=)
c.4197G>A (p.Gln1399=)
c.4452G>A (p.Gln1484=)
c.4446G>A (p.Gln1482=)
c.4014G>A (p.Gln1338=)
c.4314G>A (p.Gln1438=)
n.4765G>A
9g.104806335T>ACA374315648ABCA1c.4370A>T (p.Gln1457Leu)
c.4376A>T (p.Gln1459Leu)
c.4196A>T (p.Gln1399Leu)
c.4451A>T (p.Gln1484Leu)
c.4445A>T (p.Gln1482Leu)
c.4013A>T (p.Gln1338Leu)
c.4313A>T (p.Gln1438Leu)
n.4764A>T
9g.104806335T>CCA374315649ABCA1c.4370A>G (p.Gln1457Arg)
c.4376A>G (p.Gln1459Arg)
c.4196A>G (p.Gln1399Arg)
c.4451A>G (p.Gln1484Arg)
c.4445A>G (p.Gln1482Arg)
c.4013A>G (p.Gln1338Arg)
c.4313A>G (p.Gln1438Arg)
n.4764A>G
9g.104806335T>GCA374315650ABCA1c.4370A>C (p.Gln1457Pro)
c.4376A>C (p.Gln1459Pro)
c.4196A>C (p.Gln1399Pro)
c.4451A>C (p.Gln1484Pro)
c.4445A>C (p.Gln1482Pro)
c.4013A>C (p.Gln1338Pro)
c.4313A>C (p.Gln1438Pro)
n.4764A>C
9g.104806336G>ACA374315651ABCA1c.4369C>T (p.Gln1457Ter)
c.4375C>T (p.Gln1459Ter)
c.4195C>T (p.Gln1399Ter)
c.4450C>T (p.Gln1484Ter)
c.4444C>T (p.Gln1482Ter)
c.4012C>T (p.Gln1338Ter)
c.4312C>T (p.Gln1438Ter)
n.4763C>T
9g.104806336G>CCA374315652ABCA1c.4369C>G (p.Gln1457Glu)
c.4375C>G (p.Gln1459Glu)
c.4195C>G (p.Gln1399Glu)
c.4450C>G (p.Gln1484Glu)
c.4444C>G (p.Gln1482Glu)
c.4012C>G (p.Gln1338Glu)
c.4312C>G (p.Gln1438Glu)
n.4763C>G
 ClinVar
9g.104806336G>TCA374315653ABCA1c.4369C>A (p.Gln1457Lys)
c.4375C>A (p.Gln1459Lys)
c.4195C>A (p.Gln1399Lys)
c.4450C>A (p.Gln1484Lys)
c.4444C>A (p.Gln1482Lys)
c.4012C>A (p.Gln1338Lys)
c.4312C>A (p.Gln1438Lys)
n.4763C>A
9g.104806337C>ACA374315654ABCA1c.4368G>T (p.Met1456Ile)
c.4374G>T (p.Met1458Ile)
c.4194G>T (p.Met1398Ile)
c.4449G>T (p.Met1483Ile)
c.4443G>T (p.Met1481Ile)
c.4011G>T (p.Met1337Ile)
c.4311G>T (p.Met1437Ile)
n.4762G>T
9g.104806337C>GCA374315655ABCA1c.4368G>C (p.Met1456Ile)
c.4374G>C (p.Met1458Ile)
c.4194G>C (p.Met1398Ile)
c.4449G>C (p.Met1483Ile)
c.4443G>C (p.Met1481Ile)
c.4011G>C (p.Met1337Ile)
c.4311G>C (p.Met1437Ile)
n.4762G>C
9g.104806337C>TCA374315656ABCA1c.4368G>A (p.Met1456Ile)
c.4374G>A (p.Met1458Ile)
c.4194G>A (p.Met1398Ile)
c.4449G>A (p.Met1483Ile)
c.4443G>A (p.Met1481Ile)
c.4011G>A (p.Met1337Ile)
c.4311G>A (p.Met1437Ile)
n.4762G>A
 gnomAD v4
9g.104806337_104806338delinsCACA1869929859ABCA1c.4367_4368delinsTG (p.Met1456=)
c.4373_4374delinsTG (p.Met1458=)
c.4193_4194delinsTG (p.Met1398=)
c.4448_4449delinsTG (p.Met1483=)
c.4442_4443delinsTG (p.Met1481=)
c.4010_4011delinsTG (p.Met1337=)
c.4310_4311delinsTG (p.Met1437=)
n.4761_4762delinsTG
9g.104806338delCA589835920ABCA1c.4367del (p.Met1456SerfsTer?)
c.4373del (p.Met1458SerfsTer?)
c.4193del (p.Met1398SerfsTer?)
c.4448del (p.Met1483SerfsTer?)
c.4442del (p.Met1481SerfsTer?)
c.4010del (p.Met1337SerfsTer?)
c.4310del (p.Met1437SerfsTer?)
n.4761del
 dbSNP gnomAD v2 gnomAD v4
9g.104806338A=CA1869929866ABCA1c.4367T= (p.Met1456=)
c.4373T= (p.Met1458=)
c.4193T= (p.Met1398=)
c.4448T= (p.Met1483=)
c.4442T= (p.Met1481=)
c.4010T= (p.Met1337=)
c.4310T= (p.Met1437=)
n.4761T=
9g.104806338A>CCA374315657ABCA1c.4367T>G (p.Met1456Arg)
c.4373T>G (p.Met1458Arg)
c.4193T>G (p.Met1398Arg)
c.4448T>G (p.Met1483Arg)
c.4442T>G (p.Met1481Arg)
c.4010T>G (p.Met1337Arg)
c.4310T>G (p.Met1437Arg)
n.4761T>G
9g.104806338A>GCA374315658ABCA1c.4367T>C (p.Met1456Thr)
c.4373T>C (p.Met1458Thr)
c.4193T>C (p.Met1398Thr)
c.4448T>C (p.Met1483Thr)
c.4442T>C (p.Met1481Thr)
c.4010T>C (p.Met1337Thr)
c.4310T>C (p.Met1437Thr)
n.4761T>C
 dbSNP gnomAD v2 gnomAD v4
9g.104806338A>TCA374315659ABCA1c.4367T>A (p.Met1456Lys)
c.4373T>A (p.Met1458Lys)
c.4193T>A (p.Met1398Lys)
c.4448T>A (p.Met1483Lys)
c.4442T>A (p.Met1481Lys)
c.4010T>A (p.Met1337Lys)
c.4310T>A (p.Met1437Lys)
n.4761T>A
9g.104806339T>ACA374315661ABCA1c.4366A>T (p.Met1456Leu)
c.4372A>T (p.Met1458Leu)
c.4192A>T (p.Met1398Leu)
c.4447A>T (p.Met1483Leu)
c.4441A>T (p.Met1481Leu)
c.4009A>T (p.Met1337Leu)
c.4309A>T (p.Met1437Leu)
n.4760A>T
9g.104806339T>CCA5168163ABCA1c.4366A>G (p.Met1456Val)
c.4372A>G (p.Met1458Val)
c.4192A>G (p.Met1398Val)
c.4447A>G (p.Met1483Val)
c.4441A>G (p.Met1481Val)
c.4009A>G (p.Met1337Val)
c.4309A>G (p.Met1437Val)
n.4760A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806339T>GCA374315660ABCA1c.4366A>C (p.Met1456Leu)
c.4372A>C (p.Met1458Leu)
c.4192A>C (p.Met1398Leu)
c.4447A>C (p.Met1483Leu)
c.4441A>C (p.Met1481Leu)
c.4009A>C (p.Met1337Leu)
c.4309A>C (p.Met1437Leu)
n.4760A>C
9g.104806339T=CA1869929876ABCA1c.4366A= (p.Met1456=)
c.4372A= (p.Met1458=)
c.4192A= (p.Met1398=)
c.4447A= (p.Met1483=)
c.4441A= (p.Met1481=)
c.4009A= (p.Met1337=)
c.4309A= (p.Met1437=)
n.4760A=
9g.104806340T>ACA466504380ABCA1c.4365A>T (p.Thr1455=)
c.4371A>T (p.Thr1457=)
c.4191A>T (p.Thr1397=)
c.4446A>T (p.Thr1482=)
c.4440A>T (p.Thr1480=)
c.4008A>T (p.Thr1336=)
c.4308A>T (p.Thr1436=)
n.4759A>T
9g.104806340T>CCA466504382ABCA1c.4365A>G (p.Thr1455=)
c.4371A>G (p.Thr1457=)
c.4191A>G (p.Thr1397=)
c.4446A>G (p.Thr1482=)
c.4440A>G (p.Thr1480=)
c.4008A>G (p.Thr1336=)
c.4308A>G (p.Thr1436=)
n.4759A>G
 ClinVar
9g.104806340T>GCA466504383ABCA1c.4365A>C (p.Thr1455=)
c.4371A>C (p.Thr1457=)
c.4191A>C (p.Thr1397=)
c.4446A>C (p.Thr1482=)
c.4440A>C (p.Thr1480=)
c.4008A>C (p.Thr1336=)
c.4308A>C (p.Thr1436=)
n.4759A>C
9g.104806341G>ACA374315663ABCA1c.4364C>T (p.Thr1455Ile)
c.4370C>T (p.Thr1457Ile)
c.4190C>T (p.Thr1397Ile)
c.4445C>T (p.Thr1482Ile)
c.4439C>T (p.Thr1480Ile)
c.4007C>T (p.Thr1336Ile)
c.4307C>T (p.Thr1436Ile)
n.4758C>T
9g.104806341G>CCA374315662ABCA1c.4364C>G (p.Thr1455Arg)
c.4370C>G (p.Thr1457Arg)
c.4190C>G (p.Thr1397Arg)
c.4445C>G (p.Thr1482Arg)
c.4439C>G (p.Thr1480Arg)
c.4007C>G (p.Thr1336Arg)
c.4307C>G (p.Thr1436Arg)
n.4758C>G
9g.104806341G>TCA374315664ABCA1c.4364C>A (p.Thr1455Lys)
c.4370C>A (p.Thr1457Lys)
c.4190C>A (p.Thr1397Lys)
c.4445C>A (p.Thr1482Lys)
c.4439C>A (p.Thr1480Lys)
c.4007C>A (p.Thr1336Lys)
c.4307C>A (p.Thr1436Lys)
n.4758C>A
9g.104806342T>ACA374315665ABCA1c.4363A>T (p.Thr1455Ser)
c.4369A>T (p.Thr1457Ser)
c.4189A>T (p.Thr1397Ser)
c.4444A>T (p.Thr1482Ser)
c.4438A>T (p.Thr1480Ser)
c.4006A>T (p.Thr1336Ser)
c.4306A>T (p.Thr1436Ser)
n.4757A>T
9g.104806342T>CCA374315666ABCA1c.4363A>G (p.Thr1455Ala)
c.4369A>G (p.Thr1457Ala)
c.4189A>G (p.Thr1397Ala)
c.4444A>G (p.Thr1482Ala)
c.4438A>G (p.Thr1480Ala)
c.4006A>G (p.Thr1336Ala)
c.4306A>G (p.Thr1436Ala)
n.4757A>G
 dbSNP
9g.104806342T>GCA374315667ABCA1c.4363A>C (p.Thr1455Pro)
c.4369A>C (p.Thr1457Pro)
c.4189A>C (p.Thr1397Pro)
c.4444A>C (p.Thr1482Pro)
c.4438A>C (p.Thr1480Pro)
c.4006A>C (p.Thr1336Pro)
c.4306A>C (p.Thr1436Pro)
n.4757A>C
9g.104806342T=CA1869929883ABCA1c.4363A= (p.Thr1455=)
c.4369A= (p.Thr1457=)
c.4189A= (p.Thr1397=)
c.4444A= (p.Thr1482=)
c.4438A= (p.Thr1480=)
c.4006A= (p.Thr1336=)
c.4306A= (p.Thr1436=)
n.4757A=
9g.104806343C>ACA374315668ABCA1c.4362G>T (p.Trp1454Cys)
c.4368G>T (p.Trp1456Cys)
c.4188G>T (p.Trp1396Cys)
c.4443G>T (p.Trp1481Cys)
c.4437G>T (p.Trp1479Cys)
c.4005G>T (p.Trp1335Cys)
c.4305G>T (p.Trp1435Cys)
n.4756G>T
9g.104806343C=CA1869929889ABCA1c.4362G= (p.Trp1454=)
c.4368G= (p.Trp1456=)
c.4188G= (p.Trp1396=)
c.4443G= (p.Trp1481=)
c.4437G= (p.Trp1479=)
c.4005G= (p.Trp1335=)
c.4305G= (p.Trp1435=)
n.4756G=
9g.104806343C>GCA374315669ABCA1c.4362G>C (p.Trp1454Cys)
c.4368G>C (p.Trp1456Cys)
c.4188G>C (p.Trp1396Cys)
c.4443G>C (p.Trp1481Cys)
c.4437G>C (p.Trp1479Cys)
c.4005G>C (p.Trp1335Cys)
c.4305G>C (p.Trp1435Cys)
n.4756G>C
9g.104806343C>TCA374315670ABCA1c.4362G>A (p.Trp1454Ter)
c.4368G>A (p.Trp1456Ter)
c.4188G>A (p.Trp1396Ter)
c.4443G>A (p.Trp1481Ter)
c.4437G>A (p.Trp1479Ter)
c.4005G>A (p.Trp1335Ter)
c.4305G>A (p.Trp1435Ter)
n.4756G>A
 dbSNP
9g.104806344C>ACA374315671ABCA1c.4361G>T (p.Trp1454Leu)
c.4367G>T (p.Trp1456Leu)
c.4187G>T (p.Trp1396Leu)
c.4442G>T (p.Trp1481Leu)
c.4436G>T (p.Trp1479Leu)
c.4004G>T (p.Trp1335Leu)
c.4304G>T (p.Trp1435Leu)
n.4755G>T
9g.104806344C>GCA374315672ABCA1c.4361G>C (p.Trp1454Ser)
c.4367G>C (p.Trp1456Ser)
c.4187G>C (p.Trp1396Ser)
c.4442G>C (p.Trp1481Ser)
c.4436G>C (p.Trp1479Ser)
c.4004G>C (p.Trp1335Ser)
c.4304G>C (p.Trp1435Ser)
n.4755G>C
9g.104806344C>TCA374315673ABCA1c.4361G>A (p.Trp1454Ter)
c.4367G>A (p.Trp1456Ter)
c.4187G>A (p.Trp1396Ter)
c.4442G>A (p.Trp1481Ter)
c.4436G>A (p.Trp1479Ter)
c.4004G>A (p.Trp1335Ter)
c.4304G>A (p.Trp1435Ter)
n.4755G>A
 gnomAD v4
9g.104806345A>CCA374315674ABCA1c.4360T>G (p.Trp1454Gly)
c.4366T>G (p.Trp1456Gly)
c.4186T>G (p.Trp1396Gly)
c.4441T>G (p.Trp1481Gly)
c.4435T>G (p.Trp1479Gly)
c.4003T>G (p.Trp1335Gly)
c.4303T>G (p.Trp1435Gly)
n.4754T>G
9g.104806345A>GCA374315675ABCA1c.4360T>C (p.Trp1454Arg)
c.4366T>C (p.Trp1456Arg)
c.4186T>C (p.Trp1396Arg)
c.4441T>C (p.Trp1481Arg)
c.4435T>C (p.Trp1479Arg)
c.4003T>C (p.Trp1335Arg)
c.4303T>C (p.Trp1435Arg)
n.4754T>C
9g.104806345A>TCA374315676ABCA1c.4360T>A (p.Trp1454Arg)
c.4366T>A (p.Trp1456Arg)
c.4186T>A (p.Trp1396Arg)
c.4441T>A (p.Trp1481Arg)
c.4435T>A (p.Trp1479Arg)
c.4003T>A (p.Trp1335Arg)
c.4303T>A (p.Trp1435Arg)
n.4754T>A
9g.104806346G>ACA466504388ABCA1c.4359C>T (p.Asn1453=)
c.4365C>T (p.Asn1455=)
c.4185C>T (p.Asn1395=)
c.4440C>T (p.Asn1480=)
c.4434C>T (p.Asn1478=)
c.4002C>T (p.Asn1334=)
c.4302C>T (p.Asn1434=)
n.4753C>T
9g.104806346G>CCA5168164ABCA1c.4359C>G (p.Asn1453Lys)
c.4365C>G (p.Asn1455Lys)
c.4185C>G (p.Asn1395Lys)
c.4440C>G (p.Asn1480Lys)
c.4434C>G (p.Asn1478Lys)
c.4002C>G (p.Asn1334Lys)
c.4302C>G (p.Asn1434Lys)
n.4753C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806346G=CA1869929894ABCA1c.4359C= (p.Asn1453=)
c.4365C= (p.Asn1455=)
c.4185C= (p.Asn1395=)
c.4440C= (p.Asn1480=)
c.4434C= (p.Asn1478=)
c.4002C= (p.Asn1334=)
c.4302C= (p.Asn1434=)
n.4753C=
9g.104806346G>TCA197371007ABCA1c.4359C>A (p.Asn1453Lys)
c.4365C>A (p.Asn1455Lys)
c.4185C>A (p.Asn1395Lys)
c.4440C>A (p.Asn1480Lys)
c.4434C>A (p.Asn1478Lys)
c.4002C>A (p.Asn1334Lys)
c.4302C>A (p.Asn1434Lys)
n.4753C>A
 dbSNP
9g.104806347T>ACA374315679ABCA1c.4358A>T (p.Asn1453Ile)
c.4364A>T (p.Asn1455Ile)
c.4184A>T (p.Asn1395Ile)
c.4439A>T (p.Asn1480Ile)
c.4433A>T (p.Asn1478Ile)
c.4001A>T (p.Asn1334Ile)
c.4301A>T (p.Asn1434Ile)
n.4752A>T
9g.104806347T>CCA374315678ABCA1c.4358A>G (p.Asn1453Ser)
c.4364A>G (p.Asn1455Ser)
c.4184A>G (p.Asn1395Ser)
c.4439A>G (p.Asn1480Ser)
c.4433A>G (p.Asn1478Ser)
c.4001A>G (p.Asn1334Ser)
c.4301A>G (p.Asn1434Ser)
n.4752A>G
9g.104806347T>GCA374315677ABCA1c.4358A>C (p.Asn1453Thr)
c.4364A>C (p.Asn1455Thr)
c.4184A>C (p.Asn1395Thr)
c.4439A>C (p.Asn1480Thr)
c.4433A>C (p.Asn1478Thr)
c.4001A>C (p.Asn1334Thr)
c.4301A>C (p.Asn1434Thr)
n.4752A>C
9g.104806348T>ACA374315680ABCA1c.4357A>T (p.Asn1453Tyr)
c.4363A>T (p.Asn1455Tyr)
c.4183A>T (p.Asn1395Tyr)
c.4438A>T (p.Asn1480Tyr)
c.4432A>T (p.Asn1478Tyr)
c.4000A>T (p.Asn1334Tyr)
c.4300A>T (p.Asn1434Tyr)
n.4751A>T
9g.104806348T>CCA374315681ABCA1c.4357A>G (p.Asn1453Asp)
c.4363A>G (p.Asn1455Asp)
c.4183A>G (p.Asn1395Asp)
c.4438A>G (p.Asn1480Asp)
c.4432A>G (p.Asn1478Asp)
c.4000A>G (p.Asn1334Asp)
c.4300A>G (p.Asn1434Asp)
n.4751A>G
 ClinVar dbSNP gnomAD v4
9g.104806348T>GCA374315682ABCA1c.4357A>C (p.Asn1453His)
c.4363A>C (p.Asn1455His)
c.4183A>C (p.Asn1395His)
c.4438A>C (p.Asn1480His)
c.4432A>C (p.Asn1478His)
c.4000A>C (p.Asn1334His)
c.4300A>C (p.Asn1434His)
n.4751A>C
9g.104806348T=CA1869929907ABCA1c.4357A= (p.Asn1453=)
c.4363A= (p.Asn1455=)
c.4183A= (p.Asn1395=)
c.4438A= (p.Asn1480=)
c.4432A= (p.Asn1478=)
c.4000A= (p.Asn1334=)
c.4300A= (p.Asn1434=)
n.4751A=
9g.104806349C>ACA466504389ABCA1c.4356G>T (p.Gly1452=)
c.4362G>T (p.Gly1454=)
c.4182G>T (p.Gly1394=)
c.4437G>T (p.Gly1479=)
c.4431G>T (p.Gly1477=)
c.3999G>T (p.Gly1333=)
c.4299G>T (p.Gly1433=)
n.4750G>T
9g.104806349C>GCA466504390ABCA1c.4356G>C (p.Gly1452=)
c.4362G>C (p.Gly1454=)
c.4182G>C (p.Gly1394=)
c.4437G>C (p.Gly1479=)
c.4431G>C (p.Gly1477=)
c.3999G>C (p.Gly1333=)
c.4299G>C (p.Gly1433=)
n.4750G>C
 ClinVar
9g.104806349C>TCA466504391ABCA1c.4356G>A (p.Gly1452=)
c.4362G>A (p.Gly1454=)
c.4182G>A (p.Gly1394=)
c.4437G>A (p.Gly1479=)
c.4431G>A (p.Gly1477=)
c.3999G>A (p.Gly1333=)
c.4299G>A (p.Gly1433=)
n.4750G>A
9g.104806350C>ACA374315683ABCA1c.4355G>T (p.Gly1452Val)
c.4361G>T (p.Gly1454Val)
c.4181G>T (p.Gly1394Val)
c.4436G>T (p.Gly1479Val)
c.4430G>T (p.Gly1477Val)
c.3998G>T (p.Gly1333Val)
c.4298G>T (p.Gly1433Val)
n.4749G>T
9g.104806350C>GCA374315684ABCA1c.4355G>C (p.Gly1452Ala)
c.4361G>C (p.Gly1454Ala)
c.4181G>C (p.Gly1394Ala)
c.4436G>C (p.Gly1479Ala)
c.4430G>C (p.Gly1477Ala)
c.3998G>C (p.Gly1333Ala)
c.4298G>C (p.Gly1433Ala)
n.4749G>C
9g.104806350C>TCA374315685ABCA1c.4355G>A (p.Gly1452Glu)
c.4361G>A (p.Gly1454Glu)
c.4181G>A (p.Gly1394Glu)
c.4436G>A (p.Gly1479Glu)
c.4430G>A (p.Gly1477Glu)
c.3998G>A (p.Gly1333Glu)
c.4298G>A (p.Gly1433Glu)
n.4749G>A
9g.104806351C>ACA374315686ABCA1c.4354G>T (p.Gly1452Trp)
c.4360G>T (p.Gly1454Trp)
c.4180G>T (p.Gly1394Trp)
c.4435G>T (p.Gly1479Trp)
c.4429G>T (p.Gly1477Trp)
c.3997G>T (p.Gly1333Trp)
c.4297G>T (p.Gly1433Trp)
n.4748G>T
9g.104806351C=CA1869929915ABCA1c.4354G= (p.Gly1452=)
c.4360G= (p.Gly1454=)
c.4180G= (p.Gly1394=)
c.4435G= (p.Gly1479=)
c.4429G= (p.Gly1477=)
c.3997G= (p.Gly1333=)
c.4297G= (p.Gly1433=)
n.4748G=
9g.104806351C>GCA374315687ABCA1c.4354G>C (p.Gly1452Arg)
c.4360G>C (p.Gly1454Arg)
c.4180G>C (p.Gly1394Arg)
c.4435G>C (p.Gly1479Arg)
c.4429G>C (p.Gly1477Arg)
c.3997G>C (p.Gly1333Arg)
c.4297G>C (p.Gly1433Arg)
n.4748G>C
9g.104806351C>TCA374315688ABCA1c.4354G>A (p.Gly1452Arg)
c.4360G>A (p.Gly1454Arg)
c.4180G>A (p.Gly1394Arg)
c.4435G>A (p.Gly1479Arg)
c.4429G>A (p.Gly1477Arg)
c.3997G>A (p.Gly1333Arg)
c.4297G>A (p.Gly1433Arg)
n.4748G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104806351_104806359delinsCATTCTGGACA1869929918ABCA1c.4346_4354delinsTCCAGAATG (p.Phe1449=)
c.4352_4360delinsTCCAGAATG (p.Phe1451=)
c.4172_4180delinsTCCAGAATG (p.Phe1391=)
c.4427_4435delinsTCCAGAATG (p.Phe1476=)
c.4421_4429delinsTCCAGAATG (p.Phe1474=)
c.3989_3997delinsTCCAGAATG (p.Phe1330=)
c.4289_4297delinsTCCAGAATG (p.Phe1430=)
n.4740_4748delinsTCCAGAATG
9g.104806352A>CCA374315689ABCA1c.4353T>G (p.Asn1451Lys)
c.4359T>G (p.Asn1453Lys)
c.4179T>G (p.Asn1393Lys)
c.4434T>G (p.Asn1478Lys)
c.4428T>G (p.Asn1476Lys)
c.3996T>G (p.Asn1332Lys)
c.4296T>G (p.Asn1432Lys)
n.4747T>G
 gnomAD v4
9g.104806352A>GCA466504401ABCA1c.4353T>C (p.Asn1451=)
c.4359T>C (p.Asn1453=)
c.4179T>C (p.Asn1393=)
c.4434T>C (p.Asn1478=)
c.4428T>C (p.Asn1476=)
c.3996T>C (p.Asn1332=)
c.4296T>C (p.Asn1432=)
n.4747T>C
9g.104806352A>TCA374315690ABCA1c.4353T>A (p.Asn1451Lys)
c.4359T>A (p.Asn1453Lys)
c.4179T>A (p.Asn1393Lys)
c.4434T>A (p.Asn1478Lys)
c.4428T>A (p.Asn1476Lys)
c.3996T>A (p.Asn1332Lys)
c.4296T>A (p.Asn1432Lys)
n.4747T>A
9g.104806353_104806360delCA1869929924ABCA1c.4346_4353del (p.Phe1449TrpfsTer15)
c.4352_4359del (p.Phe1451TrpfsTer15)
c.4172_4179del (p.Phe1391TrpfsTer15)
c.4427_4434del (p.Phe1476TrpfsTer15)
c.4421_4428del (p.Phe1474TrpfsTer15)
c.3989_3996del (p.Phe1330TrpfsTer15)
c.4289_4296del (p.Phe1430TrpfsTer15)
n.4740_4747del
 dbSNP
9g.104806353T>ACA5168165ABCA1c.4352A>T (p.Asn1451Ile)
c.4358A>T (p.Asn1453Ile)
c.4178A>T (p.Asn1393Ile)
c.4433A>T (p.Asn1478Ile)
c.4427A>T (p.Asn1476Ile)
c.3995A>T (p.Asn1332Ile)
c.4295A>T (p.Asn1432Ile)
n.4746A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806353T>CCA374315691ABCA1c.4352A>G (p.Asn1451Ser)
c.4358A>G (p.Asn1453Ser)
c.4178A>G (p.Asn1393Ser)
c.4433A>G (p.Asn1478Ser)
c.4427A>G (p.Asn1476Ser)
c.3995A>G (p.Asn1332Ser)
c.4295A>G (p.Asn1432Ser)
n.4746A>G
 gnomAD v4
9g.104806353T>GCA374315692ABCA1c.4352A>C (p.Asn1451Thr)
c.4358A>C (p.Asn1453Thr)
c.4178A>C (p.Asn1393Thr)
c.4433A>C (p.Asn1478Thr)
c.4427A>C (p.Asn1476Thr)
c.3995A>C (p.Asn1332Thr)
c.4295A>C (p.Asn1432Thr)
n.4746A>C
9g.104806353T=CA1869929925ABCA1c.4352A= (p.Asn1451=)
c.4358A= (p.Asn1453=)
c.4178A= (p.Asn1393=)
c.4433A= (p.Asn1478=)
c.4427A= (p.Asn1476=)
c.3995A= (p.Asn1332=)
c.4295A= (p.Asn1432=)
n.4746A=
9g.104806354T>ACA374315694ABCA1c.4351A>T (p.Asn1451Tyr)
c.4357A>T (p.Asn1453Tyr)
c.4177A>T (p.Asn1393Tyr)
c.4432A>T (p.Asn1478Tyr)
c.4426A>T (p.Asn1476Tyr)
c.3994A>T (p.Asn1332Tyr)
c.4294A>T (p.Asn1432Tyr)
n.4745A>T
9g.104806354T>CCA374315695ABCA1c.4351A>G (p.Asn1451Asp)
c.4357A>G (p.Asn1453Asp)
c.4177A>G (p.Asn1393Asp)
c.4432A>G (p.Asn1478Asp)
c.4426A>G (p.Asn1476Asp)
c.3994A>G (p.Asn1332Asp)
c.4294A>G (p.Asn1432Asp)
n.4745A>G
9g.104806354T>GCA374315693ABCA1c.4351A>C (p.Asn1451His)
c.4357A>C (p.Asn1453His)
c.4177A>C (p.Asn1393His)
c.4432A>C (p.Asn1478His)
c.4426A>C (p.Asn1476His)
c.3994A>C (p.Asn1332His)
c.4294A>C (p.Asn1432His)
n.4745A>C
 dbSNP gnomAD v3 gnomAD v4
9g.104806354T=CA1869929928ABCA1c.4351A= (p.Asn1451=)
c.4357A= (p.Asn1453=)
c.4177A= (p.Asn1393=)
c.4432A= (p.Asn1478=)
c.4426A= (p.Asn1476=)
c.3994A= (p.Asn1332=)
c.4294A= (p.Asn1432=)
n.4745A=
9g.104806355C>ACA374315696ABCA1c.4350G>T (p.Gln1450His)
c.4356G>T (p.Gln1452His)
c.4176G>T (p.Gln1392His)
c.4431G>T (p.Gln1477His)
c.4425G>T (p.Gln1475His)
c.3993G>T (p.Gln1331His)
c.4293G>T (p.Gln1431His)
n.4744G>T
9g.104806355C>GCA374315697ABCA1c.4350G>C (p.Gln1450His)
c.4356G>C (p.Gln1452His)
c.4176G>C (p.Gln1392His)
c.4431G>C (p.Gln1477His)
c.4425G>C (p.Gln1475His)
c.3993G>C (p.Gln1331His)
c.4293G>C (p.Gln1431His)
n.4744G>C
9g.104806355C>TCA466504406ABCA1c.4350G>A (p.Gln1450=)
c.4356G>A (p.Gln1452=)
c.4176G>A (p.Gln1392=)
c.4431G>A (p.Gln1477=)
c.4425G>A (p.Gln1475=)
c.3993G>A (p.Gln1331=)
c.4293G>A (p.Gln1431=)
n.4744G>A
9g.104806356T>ACA374315698ABCA1c.4349A>T (p.Gln1450Leu)
c.4355A>T (p.Gln1452Leu)
c.4175A>T (p.Gln1392Leu)
c.4430A>T (p.Gln1477Leu)
c.4424A>T (p.Gln1475Leu)
c.3992A>T (p.Gln1331Leu)
c.4292A>T (p.Gln1431Leu)
n.4743A>T
9g.104806356T>CCA374315699ABCA1c.4349A>G (p.Gln1450Arg)
c.4355A>G (p.Gln1452Arg)
c.4175A>G (p.Gln1392Arg)
c.4430A>G (p.Gln1477Arg)
c.4424A>G (p.Gln1475Arg)
c.3992A>G (p.Gln1331Arg)
c.4292A>G (p.Gln1431Arg)
n.4743A>G
9g.104806356T>GCA374315700ABCA1c.4349A>C (p.Gln1450Pro)
c.4355A>C (p.Gln1452Pro)
c.4175A>C (p.Gln1392Pro)
c.4430A>C (p.Gln1477Pro)
c.4424A>C (p.Gln1475Pro)
c.3992A>C (p.Gln1331Pro)
c.4292A>C (p.Gln1431Pro)
n.4743A>C
9g.104806357G>ACA374315701ABCA1c.4348C>T (p.Gln1450Ter)
c.4354C>T (p.Gln1452Ter)
c.4174C>T (p.Gln1392Ter)
c.4429C>T (p.Gln1477Ter)
c.4423C>T (p.Gln1475Ter)
c.3991C>T (p.Gln1331Ter)
c.4291C>T (p.Gln1431Ter)
n.4742C>T
9g.104806357G>CCA374315702ABCA1c.4348C>G (p.Gln1450Glu)
c.4354C>G (p.Gln1452Glu)
c.4174C>G (p.Gln1392Glu)
c.4429C>G (p.Gln1477Glu)
c.4423C>G (p.Gln1475Glu)
c.3991C>G (p.Gln1331Glu)
c.4291C>G (p.Gln1431Glu)
n.4742C>G
9g.104806357G>TCA374315703ABCA1c.4348C>A (p.Gln1450Lys)
c.4354C>A (p.Gln1452Lys)
c.4174C>A (p.Gln1392Lys)
c.4429C>A (p.Gln1477Lys)
c.4423C>A (p.Gln1475Lys)
c.3991C>A (p.Gln1331Lys)
c.4291C>A (p.Gln1431Lys)
n.4742C>A
9g.104806357_104806358delCA2573143706ABCA1c.4347_4348del (p.Phe1449LeufsTer17)
c.4353_4354del (p.Phe1451LeufsTer17)
c.4173_4174del (p.Phe1391LeufsTer17)
c.4428_4429del (p.Phe1476LeufsTer17)
c.4422_4423del (p.Phe1474LeufsTer17)
c.3990_3991del (p.Phe1330LeufsTer17)
c.4290_4291del (p.Phe1430LeufsTer17)
n.4741_4742del
 ClinVar dbSNP
9g.104806358G>ACA466504408ABCA1c.4347C>T (p.Phe1449=)
c.4353C>T (p.Phe1451=)
c.4173C>T (p.Phe1391=)
c.4428C>T (p.Phe1476=)
c.4422C>T (p.Phe1474=)
c.3990C>T (p.Phe1330=)
c.4290C>T (p.Phe1430=)
n.4741C>T
9g.104806358G>CCA374315704ABCA1c.4347C>G (p.Phe1449Leu)
c.4353C>G (p.Phe1451Leu)
c.4173C>G (p.Phe1391Leu)
c.4428C>G (p.Phe1476Leu)
c.4422C>G (p.Phe1474Leu)
c.3990C>G (p.Phe1330Leu)
c.4290C>G (p.Phe1430Leu)
n.4741C>G
9g.104806358G>TCA374315705ABCA1c.4347C>A (p.Phe1449Leu)
c.4353C>A (p.Phe1451Leu)
c.4173C>A (p.Phe1391Leu)
c.4428C>A (p.Phe1476Leu)
c.4422C>A (p.Phe1474Leu)
c.3990C>A (p.Phe1330Leu)
c.4290C>A (p.Phe1430Leu)
n.4741C>A
9g.104806359A>CCA374315706ABCA1c.4346T>G (p.Phe1449Cys)
c.4352T>G (p.Phe1451Cys)
c.4172T>G (p.Phe1391Cys)
c.4427T>G (p.Phe1476Cys)
c.4421T>G (p.Phe1474Cys)
c.3989T>G (p.Phe1330Cys)
c.4289T>G (p.Phe1430Cys)
n.4740T>G
9g.104806359A>GCA374315707ABCA1c.4346T>C (p.Phe1449Ser)
c.4352T>C (p.Phe1451Ser)
c.4172T>C (p.Phe1391Ser)
c.4427T>C (p.Phe1476Ser)
c.4421T>C (p.Phe1474Ser)
c.3989T>C (p.Phe1330Ser)
c.4289T>C (p.Phe1430Ser)
n.4740T>C
9g.104806359A>TCA374315708ABCA1c.4346T>A (p.Phe1449Tyr)
c.4352T>A (p.Phe1451Tyr)
c.4172T>A (p.Phe1391Tyr)
c.4427T>A (p.Phe1476Tyr)
c.4421T>A (p.Phe1474Tyr)
c.3989T>A (p.Phe1330Tyr)
c.4289T>A (p.Phe1430Tyr)
n.4740T>A
9g.104806360A>CCA374315711ABCA1c.4345T>G (p.Phe1449Val)
c.4351T>G (p.Phe1451Val)
c.4171T>G (p.Phe1391Val)
c.4426T>G (p.Phe1476Val)
c.4420T>G (p.Phe1474Val)
c.3988T>G (p.Phe1330Val)
c.4288T>G (p.Phe1430Val)
n.4739T>G
9g.104806360A>GCA374315709ABCA1c.4345T>C (p.Phe1449Leu)
c.4351T>C (p.Phe1451Leu)
c.4171T>C (p.Phe1391Leu)
c.4426T>C (p.Phe1476Leu)
c.4420T>C (p.Phe1474Leu)
c.3988T>C (p.Phe1330Leu)
c.4288T>C (p.Phe1430Leu)
n.4739T>C
9g.104806360A>TCA374315710ABCA1c.4345T>A (p.Phe1449Ile)
c.4351T>A (p.Phe1451Ile)
c.4171T>A (p.Phe1391Ile)
c.4426T>A (p.Phe1476Ile)
c.4420T>A (p.Phe1474Ile)
c.3988T>A (p.Phe1330Ile)
c.4288T>A (p.Phe1430Ile)
n.4739T>A
9g.104806361G>ACA466504417ABCA1c.4344C>T (p.Leu1448=)
c.4350C>T (p.Leu1450=)
c.4170C>T (p.Leu1390=)
c.4425C>T (p.Leu1475=)
c.4419C>T (p.Leu1473=)
c.3987C>T (p.Leu1329=)
c.4287C>T (p.Leu1429=)
n.4738C>T
9g.104806361G>CCA466504418ABCA1c.4344C>G (p.Leu1448=)
c.4350C>G (p.Leu1450=)
c.4170C>G (p.Leu1390=)
c.4425C>G (p.Leu1475=)
c.4419C>G (p.Leu1473=)
c.3987C>G (p.Leu1329=)
c.4287C>G (p.Leu1429=)
n.4738C>G
9g.104806361G>TCA466504419ABCA1c.4344C>A (p.Leu1448=)
c.4350C>A (p.Leu1450=)
c.4170C>A (p.Leu1390=)
c.4425C>A (p.Leu1475=)
c.4419C>A (p.Leu1473=)
c.3987C>A (p.Leu1329=)
c.4287C>A (p.Leu1429=)
n.4738C>A
9g.104806362A>CCA374315712ABCA1c.4343T>G (p.Leu1448Arg)
c.4349T>G (p.Leu1450Arg)
c.4169T>G (p.Leu1390Arg)
c.4424T>G (p.Leu1475Arg)
c.4418T>G (p.Leu1473Arg)
c.3986T>G (p.Leu1329Arg)
c.4286T>G (p.Leu1429Arg)
n.4737T>G
9g.104806362A>GCA374315713ABCA1c.4343T>C (p.Leu1448Pro)
c.4349T>C (p.Leu1450Pro)
c.4169T>C (p.Leu1390Pro)
c.4424T>C (p.Leu1475Pro)
c.4418T>C (p.Leu1473Pro)
c.3986T>C (p.Leu1329Pro)
c.4286T>C (p.Leu1429Pro)
n.4737T>C
9g.104806362A>TCA374315714ABCA1c.4343T>A (p.Leu1448His)
c.4349T>A (p.Leu1450His)
c.4169T>A (p.Leu1390His)
c.4424T>A (p.Leu1475His)
c.4418T>A (p.Leu1473His)
c.3986T>A (p.Leu1329His)
c.4286T>A (p.Leu1429His)
n.4737T>A
9g.104806363G>ACA374315715ABCA1c.4342C>T (p.Leu1448Phe)
c.4348C>T (p.Leu1450Phe)
c.4168C>T (p.Leu1390Phe)
c.4423C>T (p.Leu1475Phe)
c.4417C>T (p.Leu1473Phe)
c.3985C>T (p.Leu1329Phe)
c.4285C>T (p.Leu1429Phe)
n.4736C>T
 gnomAD v4
9g.104806363G>CCA374315716ABCA1c.4342C>G (p.Leu1448Val)
c.4348C>G (p.Leu1450Val)
c.4168C>G (p.Leu1390Val)
c.4423C>G (p.Leu1475Val)
c.4417C>G (p.Leu1473Val)
c.3985C>G (p.Leu1329Val)
c.4285C>G (p.Leu1429Val)
n.4736C>G
9g.104806363G=CA1869929930ABCA1c.4342C= (p.Leu1448=)
c.4348C= (p.Leu1450=)
c.4168C= (p.Leu1390=)
c.4423C= (p.Leu1475=)
c.4417C= (p.Leu1473=)
c.3985C= (p.Leu1329=)
c.4285C= (p.Leu1429=)
n.4736C=
9g.104806363G>TCA374315717ABCA1c.4342C>A (p.Leu1448Ile)
c.4348C>A (p.Leu1450Ile)
c.4168C>A (p.Leu1390Ile)
c.4423C>A (p.Leu1475Ile)
c.4417C>A (p.Leu1473Ile)
c.3985C>A (p.Leu1329Ile)
c.4285C>A (p.Leu1429Ile)
n.4736C>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806364G>ACA466504422ABCA1c.4341C>T (p.Asp1447=)
c.4347C>T (p.Asp1449=)
c.4167C>T (p.Asp1389=)
c.4422C>T (p.Asp1474=)
c.4416C>T (p.Asp1472=)
c.3984C>T (p.Asp1328=)
c.4284C>T (p.Asp1428=)
n.4735C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104806364G>CCA374315718ABCA1c.4341C>G (p.Asp1447Glu)
c.4347C>G (p.Asp1449Glu)
c.4167C>G (p.Asp1389Glu)
c.4422C>G (p.Asp1474Glu)
c.4416C>G (p.Asp1472Glu)
c.3984C>G (p.Asp1328Glu)
c.4284C>G (p.Asp1428Glu)
n.4735C>G
9g.104806364G=CA1869929939ABCA1c.4341C= (p.Asp1447=)
c.4347C= (p.Asp1449=)
c.4167C= (p.Asp1389=)
c.4422C= (p.Asp1474=)
c.4416C= (p.Asp1472=)
c.3984C= (p.Asp1328=)
c.4284C= (p.Asp1428=)
n.4735C=
9g.104806364G>TCA374315719ABCA1c.4341C>A (p.Asp1447Glu)
c.4347C>A (p.Asp1449Glu)
c.4167C>A (p.Asp1389Glu)
c.4422C>A (p.Asp1474Glu)
c.4416C>A (p.Asp1472Glu)
c.3984C>A (p.Asp1328Glu)
c.4284C>A (p.Asp1428Glu)
n.4735C>A
9g.104806365T>ACA374315720ABCA1c.4340A>T (p.Asp1447Val)
c.4346A>T (p.Asp1449Val)
c.4166A>T (p.Asp1389Val)
c.4421A>T (p.Asp1474Val)
c.4415A>T (p.Asp1472Val)
c.3983A>T (p.Asp1328Val)
c.4283A>T (p.Asp1428Val)
n.4734A>T
 dbSNP gnomAD v2
9g.104806365T>CCA374315721ABCA1c.4340A>G (p.Asp1447Gly)
c.4346A>G (p.Asp1449Gly)
c.4166A>G (p.Asp1389Gly)
c.4421A>G (p.Asp1474Gly)
c.4415A>G (p.Asp1472Gly)
c.3983A>G (p.Asp1328Gly)
c.4283A>G (p.Asp1428Gly)
n.4734A>G
9g.104806365T>GCA374315722ABCA1c.4340A>C (p.Asp1447Ala)
c.4346A>C (p.Asp1449Ala)
c.4166A>C (p.Asp1389Ala)
c.4421A>C (p.Asp1474Ala)
c.4415A>C (p.Asp1472Ala)
c.3983A>C (p.Asp1328Ala)
c.4283A>C (p.Asp1428Ala)
n.4734A>C
9g.104806365T=CA1869929945ABCA1c.4340A= (p.Asp1447=)
c.4346A= (p.Asp1449=)
c.4166A= (p.Asp1389=)
c.4421A= (p.Asp1474=)
c.4415A= (p.Asp1472=)
c.3983A= (p.Asp1328=)
c.4283A= (p.Asp1428=)
n.4734A=
9g.104806366C>ACA374315723ABCA1c.4339G>T (p.Asp1447Tyr)
c.4345G>T (p.Asp1449Tyr)
c.4165G>T (p.Asp1389Tyr)
c.4420G>T (p.Asp1474Tyr)
c.4414G>T (p.Asp1472Tyr)
c.3982G>T (p.Asp1328Tyr)
c.4282G>T (p.Asp1428Tyr)
n.4733G>T
9g.104806366C>GCA374315725ABCA1c.4339G>C (p.Asp1447His)
c.4345G>C (p.Asp1449His)
c.4165G>C (p.Asp1389His)
c.4420G>C (p.Asp1474His)
c.4414G>C (p.Asp1472His)
c.3982G>C (p.Asp1328His)
c.4282G>C (p.Asp1428His)
n.4733G>C
9g.104806366C>TCA374315724ABCA1c.4339G>A (p.Asp1447Asn)
c.4345G>A (p.Asp1449Asn)
c.4165G>A (p.Asp1389Asn)
c.4420G>A (p.Asp1474Asn)
c.4414G>A (p.Asp1472Asn)
c.3982G>A (p.Asp1328Asn)
c.4282G>A (p.Asp1428Asn)
n.4733G>A
9g.104806367C>ACA374315726ABCA1c.4338G>T (p.Met1446Ile)
c.4344G>T (p.Met1448Ile)
c.4164G>T (p.Met1388Ile)
c.4419G>T (p.Met1473Ile)
c.4413G>T (p.Met1471Ile)
c.3981G>T (p.Met1327Ile)
c.4281G>T (p.Met1427Ile)
n.4732G>T
9g.104806367C>GCA374315728ABCA1c.4338G>C (p.Met1446Ile)
c.4344G>C (p.Met1448Ile)
c.4164G>C (p.Met1388Ile)
c.4419G>C (p.Met1473Ile)
c.4413G>C (p.Met1471Ile)
c.3981G>C (p.Met1327Ile)
c.4281G>C (p.Met1427Ile)
n.4732G>C
9g.104806367C>TCA374315727ABCA1c.4338G>A (p.Met1446Ile)
c.4344G>A (p.Met1448Ile)
c.4164G>A (p.Met1388Ile)
c.4419G>A (p.Met1473Ile)
c.4413G>A (p.Met1471Ile)
c.3981G>A (p.Met1327Ile)
c.4281G>A (p.Met1427Ile)
n.4732G>A
9g.104806368A=CA1869929959ABCA1c.4337T= (p.Met1446=)
c.4343T= (p.Met1448=)
c.4163T= (p.Met1388=)
c.4418T= (p.Met1473=)
c.4412T= (p.Met1471=)
c.3980T= (p.Met1327=)
c.4280T= (p.Met1427=)
n.4731T=
9g.104806368A>CCA374315729ABCA1c.4337T>G (p.Met1446Arg)
c.4343T>G (p.Met1448Arg)
c.4163T>G (p.Met1388Arg)
c.4418T>G (p.Met1473Arg)
c.4412T>G (p.Met1471Arg)
c.3980T>G (p.Met1327Arg)
c.4280T>G (p.Met1427Arg)
n.4731T>G
 gnomAD v4
9g.104806368A>GCA5168166ABCA1c.4337T>C (p.Met1446Thr)
c.4343T>C (p.Met1448Thr)
c.4163T>C (p.Met1388Thr)
c.4418T>C (p.Met1473Thr)
c.4412T>C (p.Met1471Thr)
c.3980T>C (p.Met1327Thr)
c.4280T>C (p.Met1427Thr)
n.4731T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104806368A>TCA374315730ABCA1c.4337T>A (p.Met1446Lys)
c.4343T>A (p.Met1448Lys)
c.4163T>A (p.Met1388Lys)
c.4418T>A (p.Met1473Lys)
c.4412T>A (p.Met1471Lys)
c.3980T>A (p.Met1327Lys)
c.4280T>A (p.Met1427Lys)
n.4731T>A
9g.104806369T>ACA374315731ABCA1c.4336A>T (p.Met1446Leu)
c.4342A>T (p.Met1448Leu)
c.4162A>T (p.Met1388Leu)
c.4417A>T (p.Met1473Leu)
c.4411A>T (p.Met1471Leu)
c.3979A>T (p.Met1327Leu)
c.4279A>T (p.Met1427Leu)
n.4730A>T
9g.104806369T>CCA5168167ABCA1c.4336A>G (p.Met1446Val)
c.4342A>G (p.Met1448Val)
c.4162A>G (p.Met1388Val)
c.4417A>G (p.Met1473Val)
c.4411A>G (p.Met1471Val)
c.3979A>G (p.Met1327Val)
c.4279A>G (p.Met1427Val)
n.4730A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104806369T>GCA374315732ABCA1c.4336A>C (p.Met1446Leu)
c.4342A>C (p.Met1448Leu)
c.4162A>C (p.Met1388Leu)
c.4417A>C (p.Met1473Leu)
c.4411A>C (p.Met1471Leu)
c.3979A>C (p.Met1327Leu)
c.4279A>C (p.Met1427Leu)
n.4730A>C
9g.104806369T=CA1869929965ABCA1c.4336A= (p.Met1446=)
c.4342A= (p.Met1448=)
c.4162A= (p.Met1388=)
c.4417A= (p.Met1473=)
c.4411A= (p.Met1471=)
c.3979A= (p.Met1327=)
c.4279A= (p.Met1427=)
n.4730A=
9g.104806370G>ACA466504424ABCA1c.4335C>T (p.Ile1445=)
c.4341C>T (p.Ile1447=)
c.4161C>T (p.Ile1387=)
c.4416C>T (p.Ile1472=)
c.4410C>T (p.Ile1470=)
c.3978C>T (p.Ile1326=)
c.4278C>T (p.Ile1426=)
n.4729C>T
9g.104806370G>CCA374315733ABCA1c.4335C>G (p.Ile1445Met)
c.4341C>G (p.Ile1447Met)
c.4161C>G (p.Ile1387Met)
c.4416C>G (p.Ile1472Met)
c.4410C>G (p.Ile1470Met)
c.3978C>G (p.Ile1326Met)
c.4278C>G (p.Ile1426Met)
n.4729C>G
 COSMIC
9g.104806370G>TCA466504425ABCA1c.4335C>A (p.Ile1445=)
c.4341C>A (p.Ile1447=)
c.4161C>A (p.Ile1387=)
c.4416C>A (p.Ile1472=)
c.4410C>A (p.Ile1470=)
c.3978C>A (p.Ile1326=)
c.4278C>A (p.Ile1426=)
n.4729C>A
9g.104806371A>CCA374315734ABCA1c.4334T>G (p.Ile1445Ser)
c.4340T>G (p.Ile1447Ser)
c.4160T>G (p.Ile1387Ser)
c.4415T>G (p.Ile1472Ser)
c.4409T>G (p.Ile1470Ser)
c.3977T>G (p.Ile1326Ser)
c.4277T>G (p.Ile1426Ser)
n.4728T>G
9g.104806371A>GCA374315735ABCA1c.4334T>C (p.Ile1445Thr)
c.4340T>C (p.Ile1447Thr)
c.4160T>C (p.Ile1387Thr)
c.4415T>C (p.Ile1472Thr)
c.4409T>C (p.Ile1470Thr)
c.3977T>C (p.Ile1326Thr)
c.4277T>C (p.Ile1426Thr)
n.4728T>C
 gnomAD v4
9g.104806371A>TCA374315736ABCA1c.4334T>A (p.Ile1445Asn)
c.4340T>A (p.Ile1447Asn)
c.4160T>A (p.Ile1387Asn)
c.4415T>A (p.Ile1472Asn)
c.4409T>A (p.Ile1470Asn)
c.3977T>A (p.Ile1326Asn)
c.4277T>A (p.Ile1426Asn)
n.4728T>A
9g.104806372T>ACA374315739ABCA1c.4333A>T (p.Ile1445Phe)
c.4339A>T (p.Ile1447Phe)
c.4159A>T (p.Ile1387Phe)
c.4414A>T (p.Ile1472Phe)
c.4408A>T (p.Ile1470Phe)
c.3976A>T (p.Ile1326Phe)
c.4276A>T (p.Ile1426Phe)
n.4727A>T
 dbSNP gnomAD v2 gnomAD v4
9g.104806372T>CCA374315738ABCA1c.4333A>G (p.Ile1445Val)
c.4339A>G (p.Ile1447Val)
c.4159A>G (p.Ile1387Val)
c.4414A>G (p.Ile1472Val)
c.4408A>G (p.Ile1470Val)
c.3976A>G (p.Ile1326Val)
c.4276A>G (p.Ile1426Val)
n.4727A>G
9g.104806372T>GCA374315737ABCA1c.4333A>C (p.Ile1445Leu)
c.4339A>C (p.Ile1447Leu)
c.4159A>C (p.Ile1387Leu)
c.4414A>C (p.Ile1472Leu)
c.4408A>C (p.Ile1470Leu)
c.3976A>C (p.Ile1326Leu)
c.4276A>C (p.Ile1426Leu)
n.4727A>C
9g.104806372T=CA1869929970ABCA1c.4333A= (p.Ile1445=)
c.4339A= (p.Ile1447=)
c.4159A= (p.Ile1387=)
c.4414A= (p.Ile1472=)
c.4408A= (p.Ile1470=)
c.3976A= (p.Ile1326=)
c.4276A= (p.Ile1426=)
n.4727A=
9g.104806373G>ACA466504426ABCA1c.4332C>T (p.Thr1444=)
c.4338C>T (p.Thr1446=)
c.4158C>T (p.Thr1386=)
c.4413C>T (p.Thr1471=)
c.4407C>T (p.Thr1469=)
c.3975C>T (p.Thr1325=)
c.4275C>T (p.Thr1425=)
n.4726C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104806373G>CCA466504427ABCA1c.4332C>G (p.Thr1444=)
c.4338C>G (p.Thr1446=)
c.4158C>G (p.Thr1386=)
c.4413C>G (p.Thr1471=)
c.4407C>G (p.Thr1469=)
c.3975C>G (p.Thr1325=)
c.4275C>G (p.Thr1425=)
n.4726C>G
9g.104806373G=CA1869929976ABCA1c.4332C= (p.Thr1444=)
c.4338C= (p.Thr1446=)
c.4158C= (p.Thr1386=)
c.4413C= (p.Thr1471=)
c.4407C= (p.Thr1469=)
c.3975C= (p.Thr1325=)
c.4275C= (p.Thr1425=)
n.4726C=
9g.104806373G>TCA466504428ABCA1c.4332C>A (p.Thr1444=)
c.4338C>A (p.Thr1446=)
c.4158C>A (p.Thr1386=)
c.4413C>A (p.Thr1471=)
c.4407C>A (p.Thr1469=)
c.3975C>A (p.Thr1325=)
c.4275C>A (p.Thr1425=)
n.4726C>A
 dbSNP gnomAD v2 gnomAD v4
9g.104806374G>ACA374315740ABCA1c.4331C>T (p.Thr1444Ile)
c.4337C>T (p.Thr1446Ile)
c.4157C>T (p.Thr1386Ile)
c.4412C>T (p.Thr1471Ile)
c.4406C>T (p.Thr1469Ile)
c.3974C>T (p.Thr1325Ile)
c.4274C>T (p.Thr1425Ile)
n.4725C>T
9g.104806374G>CCA374315741ABCA1c.4331C>G (p.Thr1444Ser)
c.4337C>G (p.Thr1446Ser)
c.4157C>G (p.Thr1386Ser)
c.4412C>G (p.Thr1471Ser)
c.4406C>G (p.Thr1469Ser)
c.3974C>G (p.Thr1325Ser)
c.4274C>G (p.Thr1425Ser)
n.4725C>G
9g.104806374G>TCA374315742ABCA1c.4331C>A (p.Thr1444Asn)
c.4337C>A (p.Thr1446Asn)
c.4157C>A (p.Thr1386Asn)
c.4412C>A (p.Thr1471Asn)
c.4406C>A (p.Thr1469Asn)
c.3974C>A (p.Thr1325Asn)
c.4274C>A (p.Thr1425Asn)
n.4725C>A
9g.104806375T>ACA374315743ABCA1c.4330A>T (p.Thr1444Ser)
c.4336A>T (p.Thr1446Ser)
c.4156A>T (p.Thr1386Ser)
c.4411A>T (p.Thr1471Ser)
c.4405A>T (p.Thr1469Ser)
c.3973A>T (p.Thr1325Ser)
c.4273A>T (p.Thr1425Ser)
n.4724A>T
9g.104806375T>CCA374315744ABCA1c.4330A>G (p.Thr1444Ala)
c.4336A>G (p.Thr1446Ala)
c.4156A>G (p.Thr1386Ala)
c.4411A>G (p.Thr1471Ala)
c.4405A>G (p.Thr1469Ala)
c.3973A>G (p.Thr1325Ala)
c.4273A>G (p.Thr1425Ala)
n.4724A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104806375T>GCA374315745ABCA1c.4330A>C (p.Thr1444Pro)
c.4336A>C (p.Thr1446Pro)
c.4156A>C (p.Thr1386Pro)
c.4411A>C (p.Thr1471Pro)
c.4405A>C (p.Thr1469Pro)
c.3973A>C (p.Thr1325Pro)
c.4273A>C (p.Thr1425Pro)
n.4724A>C
9g.104806375T=CA1869929980ABCA1c.4330A= (p.Thr1444=)
c.4336A= (p.Thr1446=)
c.4156A= (p.Thr1386=)
c.4411A= (p.Thr1471=)
c.4405A= (p.Thr1469=)
c.3973A= (p.Thr1325=)
c.4273A= (p.Thr1425=)
n.4724A=
9g.104806376C>ACA374315746ABCA1c.4329G>T (p.Gln1443His)
c.4335G>T (p.Gln1445His)
c.4155G>T (p.Gln1385His)
c.4410G>T (p.Gln1470His)
c.4404G>T (p.Gln1468His)
c.3972G>T (p.Gln1324His)
c.4272G>T (p.Gln1424His)
n.4723G>T
9g.104806376C>GCA374315747ABCA1c.4329G>C (p.Gln1443His)
c.4335G>C (p.Gln1445His)
c.4155G>C (p.Gln1385His)
c.4410G>C (p.Gln1470His)
c.4404G>C (p.Gln1468His)
c.3972G>C (p.Gln1324His)
c.4272G>C (p.Gln1424His)
n.4723G>C
9g.104806376C>TCA466504429ABCA1c.4329G>A (p.Gln1443=)
c.4335G>A (p.Gln1445=)
c.4155G>A (p.Gln1385=)
c.4410G>A (p.Gln1470=)
c.4404G>A (p.Gln1468=)
c.3972G>A (p.Gln1324=)
c.4272G>A (p.Gln1424=)
n.4723G>A

Number of alleles fetched