Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104798516G>ACA466503144ABCA1c.5026C>T (p.Leu1676=)
c.5032C>T (p.Leu1678=)
c.4852C>T (p.Leu1618=)
c.5107C>T (p.Leu1703=)
c.5101C>T (p.Leu1701=)
c.4669C>T (p.Leu1557=)
c.4969C>T (p.Leu1657=)
n.5420C>T
 gnomAD v4
9g.104798516G>CCA374314117ABCA1c.5026C>G (p.Leu1676Val)
c.5032C>G (p.Leu1678Val)
c.4852C>G (p.Leu1618Val)
c.5107C>G (p.Leu1703Val)
c.5101C>G (p.Leu1701Val)
c.4669C>G (p.Leu1557Val)
c.4969C>G (p.Leu1657Val)
n.5420C>G
9g.104798516G>TCA374314118ABCA1c.5026C>A (p.Leu1676Met)
c.5032C>A (p.Leu1678Met)
c.4852C>A (p.Leu1618Met)
c.5107C>A (p.Leu1703Met)
c.5101C>A (p.Leu1701Met)
c.4669C>A (p.Leu1557Met)
c.4969C>A (p.Leu1657Met)
n.5420C>A
9g.104798517G>ACA466503145ABCA1c.5025C>T (p.Phe1675=)
c.5031C>T (p.Phe1677=)
c.4851C>T (p.Phe1617=)
c.5106C>T (p.Phe1702=)
c.5100C>T (p.Phe1700=)
c.4668C>T (p.Phe1556=)
c.4968C>T (p.Phe1656=)
n.5419C>T
9g.104798517G>CCA374314119ABCA1c.5025C>G (p.Phe1675Leu)
c.5031C>G (p.Phe1677Leu)
c.4851C>G (p.Phe1617Leu)
c.5106C>G (p.Phe1702Leu)
c.5100C>G (p.Phe1700Leu)
c.4668C>G (p.Phe1556Leu)
c.4968C>G (p.Phe1656Leu)
n.5419C>G
9g.104798517G>TCA374314120ABCA1c.5025C>A (p.Phe1675Leu)
c.5031C>A (p.Phe1677Leu)
c.4851C>A (p.Phe1617Leu)
c.5106C>A (p.Phe1702Leu)
c.5100C>A (p.Phe1700Leu)
c.4668C>A (p.Phe1556Leu)
c.4968C>A (p.Phe1656Leu)
n.5419C>A
9g.104798518A=CA1869916033ABCA1c.5024T= (p.Phe1675=)
c.5030T= (p.Phe1677=)
c.4850T= (p.Phe1617=)
c.5105T= (p.Phe1702=)
c.5099T= (p.Phe1700=)
c.4667T= (p.Phe1556=)
c.4967T= (p.Phe1656=)
n.5418T=
9g.104798518A>CCA374314121ABCA1c.5024T>G (p.Phe1675Cys)
c.5030T>G (p.Phe1677Cys)
c.4850T>G (p.Phe1617Cys)
c.5105T>G (p.Phe1702Cys)
c.5099T>G (p.Phe1700Cys)
c.4667T>G (p.Phe1556Cys)
c.4967T>G (p.Phe1656Cys)
n.5418T>G
9g.104798518A>GCA374314122ABCA1c.5024T>C (p.Phe1675Ser)
c.5030T>C (p.Phe1677Ser)
c.4850T>C (p.Phe1617Ser)
c.5105T>C (p.Phe1702Ser)
c.5099T>C (p.Phe1700Ser)
c.4667T>C (p.Phe1556Ser)
c.4967T>C (p.Phe1656Ser)
n.5418T>C
9g.104798518A>TCA374314123ABCA1c.5024T>A (p.Phe1675Tyr)
c.5030T>A (p.Phe1677Tyr)
c.4850T>A (p.Phe1617Tyr)
c.5105T>A (p.Phe1702Tyr)
c.5099T>A (p.Phe1700Tyr)
c.4667T>A (p.Phe1556Tyr)
c.4967T>A (p.Phe1656Tyr)
n.5418T>A
 ClinVar dbSNP gnomAD v4
9g.104798519A>CCA374314126ABCA1c.5023T>G (p.Phe1675Val)
c.5029T>G (p.Phe1677Val)
c.4849T>G (p.Phe1617Val)
c.5104T>G (p.Phe1702Val)
c.5098T>G (p.Phe1700Val)
c.4666T>G (p.Phe1556Val)
c.4966T>G (p.Phe1656Val)
n.5417T>G
9g.104798519A>GCA374314125ABCA1c.5023T>C (p.Phe1675Leu)
c.5029T>C (p.Phe1677Leu)
c.4849T>C (p.Phe1617Leu)
c.5104T>C (p.Phe1702Leu)
c.5098T>C (p.Phe1700Leu)
c.4666T>C (p.Phe1556Leu)
c.4966T>C (p.Phe1656Leu)
n.5417T>C
9g.104798519A>TCA374314124ABCA1c.5023T>A (p.Phe1675Ile)
c.5029T>A (p.Phe1677Ile)
c.4849T>A (p.Phe1617Ile)
c.5104T>A (p.Phe1702Ile)
c.5098T>A (p.Phe1700Ile)
c.4666T>A (p.Phe1556Ile)
c.4966T>A (p.Phe1656Ile)
n.5417T>A
9g.104798520T>ACA466503147ABCA1c.5022A>T (p.Val1674=)
c.5028A>T (p.Val1676=)
c.4848A>T (p.Val1616=)
c.5103A>T (p.Val1701=)
c.5097A>T (p.Val1699=)
c.4665A>T (p.Val1555=)
c.4965A>T (p.Val1655=)
n.5416A>T
9g.104798520T>CCA466503148ABCA1c.5022A>G (p.Val1674=)
c.5028A>G (p.Val1676=)
c.4848A>G (p.Val1616=)
c.5103A>G (p.Val1701=)
c.5097A>G (p.Val1699=)
c.4665A>G (p.Val1555=)
c.4965A>G (p.Val1655=)
n.5416A>G
9g.104798520T>GCA466503149ABCA1c.5022A>C (p.Val1674=)
c.5028A>C (p.Val1676=)
c.4848A>C (p.Val1616=)
c.5103A>C (p.Val1701=)
c.5097A>C (p.Val1699=)
c.4665A>C (p.Val1555=)
c.4965A>C (p.Val1655=)
n.5416A>C
9g.104798521A=CA1869916049ABCA1c.5021T= (p.Val1674=)
c.5027T= (p.Val1676=)
c.4847T= (p.Val1616=)
c.5102T= (p.Val1701=)
c.5096T= (p.Val1699=)
c.4664T= (p.Val1555=)
c.4964T= (p.Val1655=)
n.5415T=
9g.104798521A>CCA374314127ABCA1c.5021T>G (p.Val1674Gly)
c.5027T>G (p.Val1676Gly)
c.4847T>G (p.Val1616Gly)
c.5102T>G (p.Val1701Gly)
c.5096T>G (p.Val1699Gly)
c.4664T>G (p.Val1555Gly)
c.4964T>G (p.Val1655Gly)
n.5415T>G
9g.104798521A>GCA374314128ABCA1c.5021T>C (p.Val1674Ala)
c.5027T>C (p.Val1676Ala)
c.4847T>C (p.Val1616Ala)
c.5102T>C (p.Val1701Ala)
c.5096T>C (p.Val1699Ala)
c.4664T>C (p.Val1555Ala)
c.4964T>C (p.Val1655Ala)
n.5415T>C
 dbSNP gnomAD v4
9g.104798521A>TCA374314129ABCA1c.5021T>A (p.Val1674Glu)
c.5027T>A (p.Val1676Glu)
c.4847T>A (p.Val1616Glu)
c.5102T>A (p.Val1701Glu)
c.5096T>A (p.Val1699Glu)
c.4664T>A (p.Val1555Glu)
c.4964T>A (p.Val1655Glu)
n.5415T>A
9g.104798522C>ACA374314130ABCA1c.5020G>T (p.Val1674Leu)
c.5026G>T (p.Val1676Leu)
c.4846G>T (p.Val1616Leu)
c.5101G>T (p.Val1701Leu)
c.5095G>T (p.Val1699Leu)
c.4663G>T (p.Val1555Leu)
c.4963G>T (p.Val1655Leu)
n.5414G>T
9g.104798522C=CA1869916058ABCA1c.5020G= (p.Val1674=)
c.5026G= (p.Val1676=)
c.4846G= (p.Val1616=)
c.5101G= (p.Val1701=)
c.5095G= (p.Val1699=)
c.4663G= (p.Val1555=)
c.4963G= (p.Val1655=)
n.5414G=
9g.104798522C>GCA374314131ABCA1c.5020G>C (p.Val1674Leu)
c.5026G>C (p.Val1676Leu)
c.4846G>C (p.Val1616Leu)
c.5101G>C (p.Val1701Leu)
c.5095G>C (p.Val1699Leu)
c.4663G>C (p.Val1555Leu)
c.4963G>C (p.Val1655Leu)
n.5414G>C
9g.104798522C>TCA5167957ABCA1c.5020G>A (p.Val1674Ile)
c.5026G>A (p.Val1676Ile)
c.4846G>A (p.Val1616Ile)
c.5101G>A (p.Val1701Ile)
c.5095G>A (p.Val1699Ile)
c.4663G>A (p.Val1555Ile)
c.4963G>A (p.Val1655Ile)
n.5414G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798523G>ACA5167958ABCA1c.5019C>T (p.Val1673=)
c.5025C>T (p.Val1675=)
c.4845C>T (p.Val1615=)
c.5100C>T (p.Val1700=)
c.5094C>T (p.Val1698=)
c.4662C>T (p.Val1554=)
c.4962C>T (p.Val1654=)
n.5413C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798523G>CCA466503153ABCA1c.5019C>G (p.Val1673=)
c.5025C>G (p.Val1675=)
c.4845C>G (p.Val1615=)
c.5100C>G (p.Val1700=)
c.5094C>G (p.Val1698=)
c.4662C>G (p.Val1554=)
c.4962C>G (p.Val1654=)
n.5413C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104798523G=CA1869916075ABCA1c.5019C= (p.Val1673=)
c.5025C= (p.Val1675=)
c.4845C= (p.Val1615=)
c.5100C= (p.Val1700=)
c.5094C= (p.Val1698=)
c.4662C= (p.Val1554=)
c.4962C= (p.Val1654=)
n.5413C=
9g.104798523G>TCA466503155ABCA1c.5019C>A (p.Val1673=)
c.5025C>A (p.Val1675=)
c.4845C>A (p.Val1615=)
c.5100C>A (p.Val1700=)
c.5094C>A (p.Val1698=)
c.4662C>A (p.Val1554=)
c.4962C>A (p.Val1654=)
n.5413C>A
9g.104798524A>CCA374314132ABCA1c.5018T>G (p.Val1673Gly)
c.5024T>G (p.Val1675Gly)
c.4844T>G (p.Val1615Gly)
c.5099T>G (p.Val1700Gly)
c.5093T>G (p.Val1698Gly)
c.4661T>G (p.Val1554Gly)
c.4961T>G (p.Val1654Gly)
n.5412T>G
9g.104798524A>GCA374314133ABCA1c.5018T>C (p.Val1673Ala)
c.5024T>C (p.Val1675Ala)
c.4844T>C (p.Val1615Ala)
c.5099T>C (p.Val1700Ala)
c.5093T>C (p.Val1698Ala)
c.4661T>C (p.Val1554Ala)
c.4961T>C (p.Val1654Ala)
n.5412T>C
9g.104798524A>TCA374314134ABCA1c.5018T>A (p.Val1673Asp)
c.5024T>A (p.Val1675Asp)
c.4844T>A (p.Val1615Asp)
c.5099T>A (p.Val1700Asp)
c.5093T>A (p.Val1698Asp)
c.4661T>A (p.Val1554Asp)
c.4961T>A (p.Val1654Asp)
n.5412T>A
9g.104798525C>ACA374314135ABCA1c.5017G>T (p.Val1673Phe)
c.5023G>T (p.Val1675Phe)
c.4843G>T (p.Val1615Phe)
c.5098G>T (p.Val1700Phe)
c.5092G>T (p.Val1698Phe)
c.4660G>T (p.Val1554Phe)
c.4960G>T (p.Val1654Phe)
n.5411G>T
 dbSNP gnomAD v3 gnomAD v4
9g.104798525C>GCA374314136ABCA1c.5017G>C (p.Val1673Leu)
c.5023G>C (p.Val1675Leu)
c.4843G>C (p.Val1615Leu)
c.5098G>C (p.Val1700Leu)
c.5092G>C (p.Val1698Leu)
c.4660G>C (p.Val1554Leu)
c.4960G>C (p.Val1654Leu)
n.5411G>C
9g.104798525C>TCA374314137ABCA1c.5017G>A (p.Val1673Ile)
c.5023G>A (p.Val1675Ile)
c.4843G>A (p.Val1615Ile)
c.5098G>A (p.Val1700Ile)
c.5092G>A (p.Val1698Ile)
c.4660G>A (p.Val1554Ile)
c.4960G>A (p.Val1654Ile)
n.5411G>A
9g.104798526A>CCA374314139ABCA1c.5016T>G (p.Phe1672Leu)
c.5022T>G (p.Phe1674Leu)
c.4842T>G (p.Phe1614Leu)
c.5097T>G (p.Phe1699Leu)
c.5091T>G (p.Phe1697Leu)
c.4659T>G (p.Phe1553Leu)
c.4959T>G (p.Phe1653Leu)
n.5410T>G
9g.104798526A>GCA466503160ABCA1c.5016T>C (p.Phe1672=)
c.5022T>C (p.Phe1674=)
c.4842T>C (p.Phe1614=)
c.5097T>C (p.Phe1699=)
c.5091T>C (p.Phe1697=)
c.4659T>C (p.Phe1553=)
c.4959T>C (p.Phe1653=)
n.5410T>C
9g.104798526A>TCA374314138ABCA1c.5016T>A (p.Phe1672Leu)
c.5022T>A (p.Phe1674Leu)
c.4842T>A (p.Phe1614Leu)
c.5097T>A (p.Phe1699Leu)
c.5091T>A (p.Phe1697Leu)
c.4659T>A (p.Phe1553Leu)
c.4959T>A (p.Phe1653Leu)
n.5410T>A
9g.104798527A>CCA374314140ABCA1c.5015T>G (p.Phe1672Cys)
c.5021T>G (p.Phe1674Cys)
c.4841T>G (p.Phe1614Cys)
c.5096T>G (p.Phe1699Cys)
c.5090T>G (p.Phe1697Cys)
c.4658T>G (p.Phe1553Cys)
c.4958T>G (p.Phe1653Cys)
n.5409T>G
9g.104798527A>GCA374314142ABCA1c.5015T>C (p.Phe1672Ser)
c.5021T>C (p.Phe1674Ser)
c.4841T>C (p.Phe1614Ser)
c.5096T>C (p.Phe1699Ser)
c.5090T>C (p.Phe1697Ser)
c.4658T>C (p.Phe1553Ser)
c.4958T>C (p.Phe1653Ser)
n.5409T>C
9g.104798527A>TCA374314141ABCA1c.5015T>A (p.Phe1672Tyr)
c.5021T>A (p.Phe1674Tyr)
c.4841T>A (p.Phe1614Tyr)
c.5096T>A (p.Phe1699Tyr)
c.5090T>A (p.Phe1697Tyr)
c.4658T>A (p.Phe1553Tyr)
c.4958T>A (p.Phe1653Tyr)
n.5409T>A
9g.104798528A>CCA374314143ABCA1c.5014T>G (p.Phe1672Val)
c.5020T>G (p.Phe1674Val)
c.4840T>G (p.Phe1614Val)
c.5095T>G (p.Phe1699Val)
c.5089T>G (p.Phe1697Val)
c.4657T>G (p.Phe1553Val)
c.4957T>G (p.Phe1653Val)
n.5408T>G
9g.104798528A>GCA374314144ABCA1c.5014T>C (p.Phe1672Leu)
c.5020T>C (p.Phe1674Leu)
c.4840T>C (p.Phe1614Leu)
c.5095T>C (p.Phe1699Leu)
c.5089T>C (p.Phe1697Leu)
c.4657T>C (p.Phe1553Leu)
c.4957T>C (p.Phe1653Leu)
n.5408T>C
9g.104798528A>TCA374314145ABCA1c.5014T>A (p.Phe1672Ile)
c.5020T>A (p.Phe1674Ile)
c.4840T>A (p.Phe1614Ile)
c.5095T>A (p.Phe1699Ile)
c.5089T>A (p.Phe1697Ile)
c.4657T>A (p.Phe1553Ile)
c.4957T>A (p.Phe1653Ile)
n.5408T>A
9g.104798529G>ACA466503163ABCA1c.5013C>T (p.Ser1671=)
c.5019C>T (p.Ser1673=)
c.4839C>T (p.Ser1613=)
c.5094C>T (p.Ser1698=)
c.5088C>T (p.Ser1696=)
c.4656C>T (p.Ser1552=)
c.4956C>T (p.Ser1652=)
n.5407C>T
 dbSNP
9g.104798529G>CCA374314146ABCA1c.5013C>G (p.Ser1671Arg)
c.5019C>G (p.Ser1673Arg)
c.4839C>G (p.Ser1613Arg)
c.5094C>G (p.Ser1698Arg)
c.5088C>G (p.Ser1696Arg)
c.4656C>G (p.Ser1552Arg)
c.4956C>G (p.Ser1652Arg)
n.5407C>G
 gnomAD v4
9g.104798529G=CA1869916097ABCA1c.5013C= (p.Ser1671=)
c.5019C= (p.Ser1673=)
c.4839C= (p.Ser1613=)
c.5094C= (p.Ser1698=)
c.5088C= (p.Ser1696=)
c.4656C= (p.Ser1552=)
c.4956C= (p.Ser1652=)
n.5407C=
9g.104798529G>TCA374314147ABCA1c.5013C>A (p.Ser1671Arg)
c.5019C>A (p.Ser1673Arg)
c.4839C>A (p.Ser1613Arg)
c.5094C>A (p.Ser1698Arg)
c.5088C>A (p.Ser1696Arg)
c.4656C>A (p.Ser1552Arg)
c.4956C>A (p.Ser1652Arg)
n.5407C>A
 dbSNP gnomAD v4
9g.104798530C>ACA374314148ABCA1c.5012G>T (p.Ser1671Ile)
c.5018G>T (p.Ser1673Ile)
c.4838G>T (p.Ser1613Ile)
c.5093G>T (p.Ser1698Ile)
c.5087G>T (p.Ser1696Ile)
c.4655G>T (p.Ser1552Ile)
c.4955G>T (p.Ser1652Ile)
n.5406G>T
9g.104798530C>GCA374314149ABCA1c.5012G>C (p.Ser1671Thr)
c.5018G>C (p.Ser1673Thr)
c.4838G>C (p.Ser1613Thr)
c.5093G>C (p.Ser1698Thr)
c.5087G>C (p.Ser1696Thr)
c.4655G>C (p.Ser1552Thr)
c.4955G>C (p.Ser1652Thr)
n.5406G>C
9g.104798530C>TCA374314150ABCA1c.5012G>A (p.Ser1671Asn)
c.5018G>A (p.Ser1673Asn)
c.4838G>A (p.Ser1613Asn)
c.5093G>A (p.Ser1698Asn)
c.5087G>A (p.Ser1696Asn)
c.4655G>A (p.Ser1552Asn)
c.4955G>A (p.Ser1652Asn)
n.5406G>A
 dbSNP gnomAD v4

Number of alleles fetched