Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104798426C>ACA374313915ABCA1c.5116G>T (p.Asp1706Tyr)
c.5122G>T (p.Asp1708Tyr)
c.4942G>T (p.Asp1648Tyr)
c.5197G>T (p.Asp1733Tyr)
c.5191G>T (p.Asp1731Tyr)
c.4759G>T (p.Asp1587Tyr)
c.5059G>T (p.Asp1687Tyr)
n.5510G>T
9g.104798426C>GCA374313916ABCA1c.5116G>C (p.Asp1706His)
c.5122G>C (p.Asp1708His)
c.4942G>C (p.Asp1648His)
c.5197G>C (p.Asp1733His)
c.5191G>C (p.Asp1731His)
c.4759G>C (p.Asp1587His)
c.5059G>C (p.Asp1687His)
n.5510G>C
9g.104798426C>TCA374313917ABCA1c.5116G>A (p.Asp1706Asn)
c.5122G>A (p.Asp1708Asn)
c.4942G>A (p.Asp1648Asn)
c.5197G>A (p.Asp1733Asn)
c.5191G>A (p.Asp1731Asn)
c.4759G>A (p.Asp1587Asn)
c.5059G>A (p.Asp1687Asn)
n.5510G>A
9g.104798427_104798428delCA2785407105ABCA1c.5115_5116del (p.Trp1705Ter)
c.5121_5122del (p.Trp1707Ter)
c.4941_4942del (p.Trp1647Ter)
c.5196_5197del (p.Trp1732Ter)
c.5190_5191del (p.Trp1730Ter)
c.4758_4759del (p.Trp1586Ter)
c.5058_5059del (p.Trp1686Ter)
n.5509_5510del
9g.104798427C>ACA374313918ABCA1c.5115G>T (p.Trp1705Cys)
c.5121G>T (p.Trp1707Cys)
c.4941G>T (p.Trp1647Cys)
c.5196G>T (p.Trp1732Cys)
c.5190G>T (p.Trp1730Cys)
c.4758G>T (p.Trp1586Cys)
c.5058G>T (p.Trp1686Cys)
n.5509G>T
9g.104798427C>GCA374313919ABCA1c.5115G>C (p.Trp1705Cys)
c.5121G>C (p.Trp1707Cys)
c.4941G>C (p.Trp1647Cys)
c.5196G>C (p.Trp1732Cys)
c.5190G>C (p.Trp1730Cys)
c.4758G>C (p.Trp1586Cys)
c.5058G>C (p.Trp1686Cys)
n.5509G>C
9g.104798427C>TCA374313920ABCA1c.5115G>A (p.Trp1705Ter)
c.5121G>A (p.Trp1707Ter)
c.4941G>A (p.Trp1647Ter)
c.5196G>A (p.Trp1732Ter)
c.5190G>A (p.Trp1730Ter)
c.4758G>A (p.Trp1586Ter)
c.5058G>A (p.Trp1686Ter)
n.5509G>A
9g.104798428C>ACA374313923ABCA1c.5114G>T (p.Trp1705Leu)
c.5120G>T (p.Trp1707Leu)
c.4940G>T (p.Trp1647Leu)
c.5195G>T (p.Trp1732Leu)
c.5189G>T (p.Trp1730Leu)
c.4757G>T (p.Trp1586Leu)
c.5057G>T (p.Trp1686Leu)
n.5508G>T
9g.104798428C>GCA374313922ABCA1c.5114G>C (p.Trp1705Ser)
c.5120G>C (p.Trp1707Ser)
c.4940G>C (p.Trp1647Ser)
c.5195G>C (p.Trp1732Ser)
c.5189G>C (p.Trp1730Ser)
c.4757G>C (p.Trp1586Ser)
c.5057G>C (p.Trp1686Ser)
n.5508G>C
9g.104798428C>TCA374313921ABCA1c.5114G>A (p.Trp1705Ter)
c.5120G>A (p.Trp1707Ter)
c.4940G>A (p.Trp1647Ter)
c.5195G>A (p.Trp1732Ter)
c.5189G>A (p.Trp1730Ter)
c.4757G>A (p.Trp1586Ter)
c.5057G>A (p.Trp1686Ter)
n.5508G>A
9g.104798429A=CA1869915725ABCA1c.5113T= (p.Trp1705=)
c.5119T= (p.Trp1707=)
c.4939T= (p.Trp1647=)
c.5194T= (p.Trp1732=)
c.5188T= (p.Trp1730=)
c.4756T= (p.Trp1586=)
c.5056T= (p.Trp1686=)
n.5507T=
9g.104798429A>CCA374313924ABCA1c.5113T>G (p.Trp1705Gly)
c.5119T>G (p.Trp1707Gly)
c.4939T>G (p.Trp1647Gly)
c.5194T>G (p.Trp1732Gly)
c.5188T>G (p.Trp1730Gly)
c.4756T>G (p.Trp1586Gly)
c.5056T>G (p.Trp1686Gly)
n.5507T>G
9g.104798429A>GCA374313925ABCA1c.5113T>C (p.Trp1705Arg)
c.5119T>C (p.Trp1707Arg)
c.4939T>C (p.Trp1647Arg)
c.5194T>C (p.Trp1732Arg)
c.5188T>C (p.Trp1730Arg)
c.4756T>C (p.Trp1586Arg)
c.5056T>C (p.Trp1686Arg)
n.5507T>C
9g.104798429A>TCA374313926ABCA1c.5113T>A (p.Trp1705Arg)
c.5119T>A (p.Trp1707Arg)
c.4939T>A (p.Trp1647Arg)
c.5194T>A (p.Trp1732Arg)
c.5188T>A (p.Trp1730Arg)
c.4756T>A (p.Trp1586Arg)
c.5056T>A (p.Trp1686Arg)
n.5507T>A
 dbSNP gnomAD v2 gnomAD v4
9g.104798430G>ACA466503089ABCA1c.5112C>T (p.Val1704=)
c.5118C>T (p.Val1706=)
c.4938C>T (p.Val1646=)
c.5193C>T (p.Val1731=)
c.5187C>T (p.Val1729=)
c.4755C>T (p.Val1585=)
c.5055C>T (p.Val1685=)
n.5506C>T
9g.104798430G>CCA466503090ABCA1c.5112C>G (p.Val1704=)
c.5118C>G (p.Val1706=)
c.4938C>G (p.Val1646=)
c.5193C>G (p.Val1731=)
c.5187C>G (p.Val1729=)
c.4755C>G (p.Val1585=)
c.5055C>G (p.Val1685=)
n.5506C>G
9g.104798430G>TCA466503091ABCA1c.5112C>A (p.Val1704=)
c.5118C>A (p.Val1706=)
c.4938C>A (p.Val1646=)
c.5193C>A (p.Val1731=)
c.5187C>A (p.Val1729=)
c.4755C>A (p.Val1585=)
c.5055C>A (p.Val1685=)
n.5506C>A
9g.104798431A=CA1869915733ABCA1c.5111T= (p.Val1704=)
c.5117T= (p.Val1706=)
c.4937T= (p.Val1646=)
c.5192T= (p.Val1731=)
c.5186T= (p.Val1729=)
c.4754T= (p.Val1585=)
c.5054T= (p.Val1685=)
n.5505T=
9g.104798431A>CCA374313927ABCA1c.5111T>G (p.Val1704Gly)
c.5117T>G (p.Val1706Gly)
c.4937T>G (p.Val1646Gly)
c.5192T>G (p.Val1731Gly)
c.5186T>G (p.Val1729Gly)
c.4754T>G (p.Val1585Gly)
c.5054T>G (p.Val1685Gly)
n.5505T>G
 dbSNP gnomAD v2 gnomAD v4
9g.104798431A>GCA374313928ABCA1c.5111T>C (p.Val1704Ala)
c.5117T>C (p.Val1706Ala)
c.4937T>C (p.Val1646Ala)
c.5192T>C (p.Val1731Ala)
c.5186T>C (p.Val1729Ala)
c.4754T>C (p.Val1585Ala)
c.5054T>C (p.Val1685Ala)
n.5505T>C
9g.104798431A>TCA374313929ABCA1c.5111T>A (p.Val1704Asp)
c.5117T>A (p.Val1706Asp)
c.4937T>A (p.Val1646Asp)
c.5192T>A (p.Val1731Asp)
c.5186T>A (p.Val1729Asp)
c.4754T>A (p.Val1585Asp)
c.5054T>A (p.Val1685Asp)
n.5505T>A
9g.104798432C>ACA374313930ABCA1c.5110G>T (p.Val1704Phe)
c.5116G>T (p.Val1706Phe)
c.4936G>T (p.Val1646Phe)
c.5191G>T (p.Val1731Phe)
c.5185G>T (p.Val1729Phe)
c.4753G>T (p.Val1585Phe)
c.5053G>T (p.Val1685Phe)
n.5504G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104798432C=CA1869915748ABCA1c.5110G= (p.Val1704=)
c.5116G= (p.Val1706=)
c.4936G= (p.Val1646=)
c.5191G= (p.Val1731=)
c.5185G= (p.Val1729=)
c.4753G= (p.Val1585=)
c.5053G= (p.Val1685=)
n.5504G=
9g.104798432C>GCA374313931ABCA1c.5110G>C (p.Val1704Leu)
c.5116G>C (p.Val1706Leu)
c.4936G>C (p.Val1646Leu)
c.5191G>C (p.Val1731Leu)
c.5185G>C (p.Val1729Leu)
c.4753G>C (p.Val1585Leu)
c.5053G>C (p.Val1685Leu)
n.5504G>C
9g.104798432C>TCA374313932ABCA1c.5110G>A (p.Val1704Ile)
c.5116G>A (p.Val1706Ile)
c.4936G>A (p.Val1646Ile)
c.5191G>A (p.Val1731Ile)
c.5185G>A (p.Val1729Ile)
c.4753G>A (p.Val1585Ile)
c.5053G>A (p.Val1685Ile)
n.5504G>A
9g.104798433A=CA1869915757ABCA1c.5109T= (p.Phe1703=)
c.5115T= (p.Phe1705=)
c.4935T= (p.Phe1645=)
c.5190T= (p.Phe1730=)
c.5184T= (p.Phe1728=)
c.4752T= (p.Phe1584=)
c.5052T= (p.Phe1684=)
n.5503T=
9g.104798433A>CCA374313933ABCA1c.5109T>G (p.Phe1703Leu)
c.5115T>G (p.Phe1705Leu)
c.4935T>G (p.Phe1645Leu)
c.5190T>G (p.Phe1730Leu)
c.5184T>G (p.Phe1728Leu)
c.4752T>G (p.Phe1584Leu)
c.5052T>G (p.Phe1684Leu)
n.5503T>G
9g.104798433A>GCA197361787ABCA1c.5109T>C (p.Phe1703=)
c.5115T>C (p.Phe1705=)
c.4935T>C (p.Phe1645=)
c.5190T>C (p.Phe1730=)
c.5184T>C (p.Phe1728=)
c.4752T>C (p.Phe1584=)
c.5052T>C (p.Phe1684=)
n.5503T>C
 ClinVar dbSNP gnomAD v2
9g.104798433A>TCA374313934ABCA1c.5109T>A (p.Phe1703Leu)
c.5115T>A (p.Phe1705Leu)
c.4935T>A (p.Phe1645Leu)
c.5190T>A (p.Phe1730Leu)
c.5184T>A (p.Phe1728Leu)
c.4752T>A (p.Phe1584Leu)
c.5052T>A (p.Phe1684Leu)
n.5503T>A
9g.104798434A=CA1869915787ABCA1c.5108T= (p.Phe1703=)
c.5114T= (p.Phe1705=)
c.4934T= (p.Phe1645=)
c.5189T= (p.Phe1730=)
c.5183T= (p.Phe1728=)
c.4751T= (p.Phe1584=)
c.5051T= (p.Phe1684=)
n.5502T=
9g.104798434A>CCA374313937ABCA1c.5108T>G (p.Phe1703Cys)
c.5114T>G (p.Phe1705Cys)
c.4934T>G (p.Phe1645Cys)
c.5189T>G (p.Phe1730Cys)
c.5183T>G (p.Phe1728Cys)
c.4751T>G (p.Phe1584Cys)
c.5051T>G (p.Phe1684Cys)
n.5502T>G
9g.104798434A>GCA374313936ABCA1c.5108T>C (p.Phe1703Ser)
c.5114T>C (p.Phe1705Ser)
c.4934T>C (p.Phe1645Ser)
c.5189T>C (p.Phe1730Ser)
c.5183T>C (p.Phe1728Ser)
c.4751T>C (p.Phe1584Ser)
c.5051T>C (p.Phe1684Ser)
n.5502T>C
 dbSNP gnomAD v2
9g.104798434A>TCA374313935ABCA1c.5108T>A (p.Phe1703Tyr)
c.5114T>A (p.Phe1705Tyr)
c.4934T>A (p.Phe1645Tyr)
c.5189T>A (p.Phe1730Tyr)
c.5183T>A (p.Phe1728Tyr)
c.4751T>A (p.Phe1584Tyr)
c.5051T>A (p.Phe1684Tyr)
n.5502T>A
9g.104798435A>CCA374313938ABCA1c.5107T>G (p.Phe1703Val)
c.5113T>G (p.Phe1705Val)
c.4933T>G (p.Phe1645Val)
c.5188T>G (p.Phe1730Val)
c.5182T>G (p.Phe1728Val)
c.4750T>G (p.Phe1584Val)
c.5050T>G (p.Phe1684Val)
n.5501T>G
9g.104798435A>GCA374313940ABCA1c.5107T>C (p.Phe1703Leu)
c.5113T>C (p.Phe1705Leu)
c.4933T>C (p.Phe1645Leu)
c.5188T>C (p.Phe1730Leu)
c.5182T>C (p.Phe1728Leu)
c.4750T>C (p.Phe1584Leu)
c.5050T>C (p.Phe1684Leu)
n.5501T>C
9g.104798435A>TCA374313939ABCA1c.5107T>A (p.Phe1703Ile)
c.5113T>A (p.Phe1705Ile)
c.4933T>A (p.Phe1645Ile)
c.5188T>A (p.Phe1730Ile)
c.5182T>A (p.Phe1728Ile)
c.4750T>A (p.Phe1584Ile)
c.5050T>A (p.Phe1684Ile)
n.5501T>A
9g.104798436A>CCA374313941ABCA1c.5106T>G (p.Asn1702Lys)
c.5112T>G (p.Asn1704Lys)
c.4932T>G (p.Asn1644Lys)
c.5187T>G (p.Asn1729Lys)
c.5181T>G (p.Asn1727Lys)
c.4749T>G (p.Asn1583Lys)
c.5049T>G (p.Asn1683Lys)
n.5500T>G
9g.104798436A>GCA466503092ABCA1c.5106T>C (p.Asn1702=)
c.5112T>C (p.Asn1704=)
c.4932T>C (p.Asn1644=)
c.5187T>C (p.Asn1729=)
c.5181T>C (p.Asn1727=)
c.4749T>C (p.Asn1583=)
c.5049T>C (p.Asn1683=)
n.5500T>C
9g.104798436A>TCA374313942ABCA1c.5106T>A (p.Asn1702Lys)
c.5112T>A (p.Asn1704Lys)
c.4932T>A (p.Asn1644Lys)
c.5187T>A (p.Asn1729Lys)
c.5181T>A (p.Asn1727Lys)
c.4749T>A (p.Asn1583Lys)
c.5049T>A (p.Asn1683Lys)
n.5500T>A
9g.104798437T>ACA374313943ABCA1c.5105A>T (p.Asn1702Ile)
c.5111A>T (p.Asn1704Ile)
c.4931A>T (p.Asn1644Ile)
c.5186A>T (p.Asn1729Ile)
c.5180A>T (p.Asn1727Ile)
c.4748A>T (p.Asn1583Ile)
c.5048A>T (p.Asn1683Ile)
n.5499A>T
9g.104798437T>CCA374313944ABCA1c.5105A>G (p.Asn1702Ser)
c.5111A>G (p.Asn1704Ser)
c.4931A>G (p.Asn1644Ser)
c.5186A>G (p.Asn1729Ser)
c.5180A>G (p.Asn1727Ser)
c.4748A>G (p.Asn1583Ser)
c.5048A>G (p.Asn1683Ser)
n.5499A>G
9g.104798437T>GCA374313945ABCA1c.5105A>C (p.Asn1702Thr)
c.5111A>C (p.Asn1704Thr)
c.4931A>C (p.Asn1644Thr)
c.5186A>C (p.Asn1729Thr)
c.5180A>C (p.Asn1727Thr)
c.4748A>C (p.Asn1583Thr)
c.5048A>C (p.Asn1683Thr)
n.5499A>C
 dbSNP
9g.104798438T>ACA374313947ABCA1c.5104A>T (p.Asn1702Tyr)
c.5110A>T (p.Asn1704Tyr)
c.4930A>T (p.Asn1644Tyr)
c.5185A>T (p.Asn1729Tyr)
c.5179A>T (p.Asn1727Tyr)
c.4747A>T (p.Asn1583Tyr)
c.5047A>T (p.Asn1683Tyr)
n.5498A>T
9g.104798438T>CCA5167942ABCA1c.5104A>G (p.Asn1702Asp)
c.5110A>G (p.Asn1704Asp)
c.4930A>G (p.Asn1644Asp)
c.5185A>G (p.Asn1729Asp)
c.5179A>G (p.Asn1727Asp)
c.4747A>G (p.Asn1583Asp)
c.5047A>G (p.Asn1683Asp)
n.5498A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798438T>GCA374313946ABCA1c.5104A>C (p.Asn1702His)
c.5110A>C (p.Asn1704His)
c.4930A>C (p.Asn1644His)
c.5185A>C (p.Asn1729His)
c.5179A>C (p.Asn1727His)
c.4747A>C (p.Asn1583His)
c.5047A>C (p.Asn1683His)
n.5498A>C
 gnomAD v4
9g.104798438T=CA1869915794ABCA1c.5104A= (p.Asn1702=)
c.5110A= (p.Asn1704=)
c.4930A= (p.Asn1644=)
c.5185A= (p.Asn1729=)
c.5179A= (p.Asn1727=)
c.4747A= (p.Asn1583=)
c.5047A= (p.Asn1683=)
n.5498A=
9g.104798438_104798442delinsTAGAGCA1869915795ABCA1c.5100_5104delinsCTCTA (p.Leu1700=)
c.5106_5110delinsCTCTA (p.Leu1702=)
c.4926_4930delinsCTCTA (p.Leu1642=)
c.5181_5185delinsCTCTA (p.Leu1727=)
c.5175_5179delinsCTCTA (p.Leu1725=)
c.4743_4747delinsCTCTA (p.Leu1581=)
c.5043_5047delinsCTCTA (p.Leu1681=)
n.5494_5498delinsCTCTA
9g.104798439A>CCA466503094ABCA1c.5103T>G (p.Ser1701=)
c.5109T>G (p.Ser1703=)
c.4929T>G (p.Ser1643=)
c.5184T>G (p.Ser1728=)
c.5178T>G (p.Ser1726=)
c.4746T>G (p.Ser1582=)
c.5046T>G (p.Ser1682=)
n.5497T>G
9g.104798439A>GCA466503095ABCA1c.5103T>C (p.Ser1701=)
c.5109T>C (p.Ser1703=)
c.4929T>C (p.Ser1643=)
c.5184T>C (p.Ser1728=)
c.5178T>C (p.Ser1726=)
c.4746T>C (p.Ser1582=)
c.5046T>C (p.Ser1682=)
n.5497T>C
9g.104798439A>TCA466503093ABCA1c.5103T>A (p.Ser1701=)
c.5109T>A (p.Ser1703=)
c.4929T>A (p.Ser1643=)
c.5184T>A (p.Ser1728=)
c.5178T>A (p.Ser1726=)
c.4746T>A (p.Ser1582=)
c.5046T>A (p.Ser1682=)
n.5497T>A
9g.104798441_104798444delCA1127650578ABCA1c.5100_5103del (p.Ser1701IlefsTer?)
c.5106_5109del (p.Ser1703IlefsTer?)
c.4926_4929del (p.Ser1643IlefsTer?)
c.5181_5184del (p.Ser1728IlefsTer?)
c.5175_5178del (p.Ser1726IlefsTer?)
c.4743_4746del (p.Ser1582IlefsTer?)
c.5043_5046del (p.Ser1682IlefsTer?)
n.5494_5497del
 dbSNP gnomAD v3 gnomAD v4
9g.104798440G>ACA374313948ABCA1c.5102C>T (p.Ser1701Phe)
c.5108C>T (p.Ser1703Phe)
c.4928C>T (p.Ser1643Phe)
c.5183C>T (p.Ser1728Phe)
c.5177C>T (p.Ser1726Phe)
c.4745C>T (p.Ser1582Phe)
c.5045C>T (p.Ser1682Phe)
n.5496C>T
9g.104798440G>CCA374313949ABCA1c.5102C>G (p.Ser1701Cys)
c.5108C>G (p.Ser1703Cys)
c.4928C>G (p.Ser1643Cys)
c.5183C>G (p.Ser1728Cys)
c.5177C>G (p.Ser1726Cys)
c.4745C>G (p.Ser1582Cys)
c.5045C>G (p.Ser1682Cys)
n.5496C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104798440G=CA1869915806ABCA1c.5102C= (p.Ser1701=)
c.5108C= (p.Ser1703=)
c.4928C= (p.Ser1643=)
c.5183C= (p.Ser1728=)
c.5177C= (p.Ser1726=)
c.4745C= (p.Ser1582=)
c.5045C= (p.Ser1682=)
n.5496C=
9g.104798440G>TCA374313950ABCA1c.5102C>A (p.Ser1701Tyr)
c.5108C>A (p.Ser1703Tyr)
c.4928C>A (p.Ser1643Tyr)
c.5183C>A (p.Ser1728Tyr)
c.5177C>A (p.Ser1726Tyr)
c.4745C>A (p.Ser1582Tyr)
c.5045C>A (p.Ser1682Tyr)
n.5496C>A
9g.104798441A>CCA374313951ABCA1c.5101T>G (p.Ser1701Ala)
c.5107T>G (p.Ser1703Ala)
c.4927T>G (p.Ser1643Ala)
c.5182T>G (p.Ser1728Ala)
c.5176T>G (p.Ser1726Ala)
c.4744T>G (p.Ser1582Ala)
c.5044T>G (p.Ser1682Ala)
n.5495T>G
9g.104798441A>GCA374313952ABCA1c.5101T>C (p.Ser1701Pro)
c.5107T>C (p.Ser1703Pro)
c.4927T>C (p.Ser1643Pro)
c.5182T>C (p.Ser1728Pro)
c.5176T>C (p.Ser1726Pro)
c.4744T>C (p.Ser1582Pro)
c.5044T>C (p.Ser1682Pro)
n.5495T>C
 gnomAD v4
9g.104798441A>TCA374313953ABCA1c.5101T>A (p.Ser1701Thr)
c.5107T>A (p.Ser1703Thr)
c.4927T>A (p.Ser1643Thr)
c.5182T>A (p.Ser1728Thr)
c.5176T>A (p.Ser1726Thr)
c.4744T>A (p.Ser1582Thr)
c.5044T>A (p.Ser1682Thr)
n.5495T>A
9g.104798442G>ACA466503098ABCA1c.5100C>T (p.Leu1700=)
c.5106C>T (p.Leu1702=)
c.4926C>T (p.Leu1642=)
c.5181C>T (p.Leu1727=)
c.5175C>T (p.Leu1725=)
c.4743C>T (p.Leu1581=)
c.5043C>T (p.Leu1681=)
n.5494C>T
 ClinVar dbSNP gnomAD v4
9g.104798442G>CCA466503096ABCA1c.5100C>G (p.Leu1700=)
c.5106C>G (p.Leu1702=)
c.4926C>G (p.Leu1642=)
c.5181C>G (p.Leu1727=)
c.5175C>G (p.Leu1725=)
c.4743C>G (p.Leu1581=)
c.5043C>G (p.Leu1681=)
n.5494C>G
 COSMIC
9g.104798442G=CA1869915818ABCA1c.5100C= (p.Leu1700=)
c.5106C= (p.Leu1702=)
c.4926C= (p.Leu1642=)
c.5181C= (p.Leu1727=)
c.5175C= (p.Leu1725=)
c.4743C= (p.Leu1581=)
c.5043C= (p.Leu1681=)
n.5494C=
9g.104798442G>TCA466503097ABCA1c.5100C>A (p.Leu1700=)
c.5106C>A (p.Leu1702=)
c.4926C>A (p.Leu1642=)
c.5181C>A (p.Leu1727=)
c.5175C>A (p.Leu1725=)
c.4743C>A (p.Leu1581=)
c.5043C>A (p.Leu1681=)
n.5494C>A
9g.104798443A>CCA374313956ABCA1c.5099T>G (p.Leu1700Arg)
c.5105T>G (p.Leu1702Arg)
c.4925T>G (p.Leu1642Arg)
c.5180T>G (p.Leu1727Arg)
c.5174T>G (p.Leu1725Arg)
c.4742T>G (p.Leu1581Arg)
c.5042T>G (p.Leu1681Arg)
n.5493T>G
9g.104798443A>GCA374313954ABCA1c.5099T>C (p.Leu1700Pro)
c.5105T>C (p.Leu1702Pro)
c.4925T>C (p.Leu1642Pro)
c.5180T>C (p.Leu1727Pro)
c.5174T>C (p.Leu1725Pro)
c.4742T>C (p.Leu1581Pro)
c.5042T>C (p.Leu1681Pro)
n.5493T>C
9g.104798443A>TCA374313955ABCA1c.5099T>A (p.Leu1700His)
c.5105T>A (p.Leu1702His)
c.4925T>A (p.Leu1642His)
c.5180T>A (p.Leu1727His)
c.5174T>A (p.Leu1725His)
c.4742T>A (p.Leu1581His)
c.5042T>A (p.Leu1681His)
n.5493T>A
9g.104798444G>ACA374313957ABCA1c.5098C>T (p.Leu1700Phe)
c.5104C>T (p.Leu1702Phe)
c.4924C>T (p.Leu1642Phe)
c.5179C>T (p.Leu1727Phe)
c.5173C>T (p.Leu1725Phe)
c.4741C>T (p.Leu1581Phe)
c.5041C>T (p.Leu1681Phe)
n.5492C>T
9g.104798444G>CCA374313958ABCA1c.5098C>G (p.Leu1700Val)
c.5104C>G (p.Leu1702Val)
c.4924C>G (p.Leu1642Val)
c.5179C>G (p.Leu1727Val)
c.5173C>G (p.Leu1725Val)
c.4741C>G (p.Leu1581Val)
c.5041C>G (p.Leu1681Val)
n.5492C>G
9g.104798444G>TCA374313959ABCA1c.5098C>A (p.Leu1700Ile)
c.5104C>A (p.Leu1702Ile)
c.4924C>A (p.Leu1642Ile)
c.5179C>A (p.Leu1727Ile)
c.5173C>A (p.Leu1725Ile)
c.4741C>A (p.Leu1581Ile)
c.5041C>A (p.Leu1681Ile)
n.5492C>A
9g.104798445C>ACA5167943ABCA1c.5097G>T (p.Trp1699Cys)
c.5103G>T (p.Trp1701Cys)
c.4923G>T (p.Trp1641Cys)
c.5178G>T (p.Trp1726Cys)
c.5172G>T (p.Trp1724Cys)
c.4740G>T (p.Trp1580Cys)
c.5040G>T (p.Trp1680Cys)
n.5491G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798445C=CA1869915827ABCA1c.5097G= (p.Trp1699=)
c.5103G= (p.Trp1701=)
c.4923G= (p.Trp1641=)
c.5178G= (p.Trp1726=)
c.5172G= (p.Trp1724=)
c.4740G= (p.Trp1580=)
c.5040G= (p.Trp1680=)
n.5491G=
9g.104798445C>GCA374313960ABCA1c.5097G>C (p.Trp1699Cys)
c.5103G>C (p.Trp1701Cys)
c.4923G>C (p.Trp1641Cys)
c.5178G>C (p.Trp1726Cys)
c.5172G>C (p.Trp1724Cys)
c.4740G>C (p.Trp1580Cys)
c.5040G>C (p.Trp1680Cys)
n.5491G>C
9g.104798445C>TCA374313961ABCA1c.5097G>A (p.Trp1699Ter)
c.5103G>A (p.Trp1701Ter)
c.4923G>A (p.Trp1641Ter)
c.5178G>A (p.Trp1726Ter)
c.5172G>A (p.Trp1724Ter)
c.4740G>A (p.Trp1580Ter)
c.5040G>A (p.Trp1680Ter)
n.5491G>A
9g.104798446C>ACA374313962ABCA1c.5096G>T (p.Trp1699Leu)
c.5102G>T (p.Trp1701Leu)
c.4922G>T (p.Trp1641Leu)
c.5177G>T (p.Trp1726Leu)
c.5171G>T (p.Trp1724Leu)
c.4739G>T (p.Trp1580Leu)
c.5039G>T (p.Trp1680Leu)
n.5490G>T
9g.104798446C=CA1869915831ABCA1c.5096G= (p.Trp1699=)
c.5102G= (p.Trp1701=)
c.4922G= (p.Trp1641=)
c.5177G= (p.Trp1726=)
c.5171G= (p.Trp1724=)
c.4739G= (p.Trp1580=)
c.5039G= (p.Trp1680=)
n.5490G=
9g.104798446C>GCA374313963ABCA1c.5096G>C (p.Trp1699Ser)
c.5102G>C (p.Trp1701Ser)
c.4922G>C (p.Trp1641Ser)
c.5177G>C (p.Trp1726Ser)
c.5171G>C (p.Trp1724Ser)
c.4739G>C (p.Trp1580Ser)
c.5039G>C (p.Trp1680Ser)
n.5490G>C
9g.104798446C>TCA374313964ABCA1c.5096G>A (p.Trp1699Ter)
c.5102G>A (p.Trp1701Ter)
c.4922G>A (p.Trp1641Ter)
c.5177G>A (p.Trp1726Ter)
c.5171G>A (p.Trp1724Ter)
c.4739G>A (p.Trp1580Ter)
c.5039G>A (p.Trp1680Ter)
n.5490G>A
 dbSNP
9g.104798447A>CCA374313965ABCA1c.5095T>G (p.Trp1699Gly)
c.5101T>G (p.Trp1701Gly)
c.4921T>G (p.Trp1641Gly)
c.5176T>G (p.Trp1726Gly)
c.5170T>G (p.Trp1724Gly)
c.4738T>G (p.Trp1580Gly)
c.5038T>G (p.Trp1680Gly)
n.5489T>G
9g.104798447A>GCA374313966ABCA1c.5095T>C (p.Trp1699Arg)
c.5101T>C (p.Trp1701Arg)
c.4921T>C (p.Trp1641Arg)
c.5176T>C (p.Trp1726Arg)
c.5170T>C (p.Trp1724Arg)
c.4738T>C (p.Trp1580Arg)
c.5038T>C (p.Trp1680Arg)
n.5489T>C
9g.104798447A>TCA374313967ABCA1c.5095T>A (p.Trp1699Arg)
c.5101T>A (p.Trp1701Arg)
c.4921T>A (p.Trp1641Arg)
c.5176T>A (p.Trp1726Arg)
c.5170T>A (p.Trp1724Arg)
c.4738T>A (p.Trp1580Arg)
c.5038T>A (p.Trp1680Arg)
n.5489T>A
9g.104798448G>ACA5167944ABCA1c.5094C>T (p.Tyr1698=)
c.5100C>T (p.Tyr1700=)
c.4920C>T (p.Tyr1640=)
c.5175C>T (p.Tyr1725=)
c.5169C>T (p.Tyr1723=)
c.4737C>T (p.Tyr1579=)
c.5037C>T (p.Tyr1679=)
n.5488C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798448G>CCA374313968ABCA1c.5094C>G (p.Tyr1698Ter)
c.5100C>G (p.Tyr1700Ter)
c.4920C>G (p.Tyr1640Ter)
c.5175C>G (p.Tyr1725Ter)
c.5169C>G (p.Tyr1723Ter)
c.4737C>G (p.Tyr1579Ter)
c.5037C>G (p.Tyr1679Ter)
n.5488C>G
9g.104798448G=CA1869915836ABCA1c.5094C= (p.Tyr1698=)
c.5100C= (p.Tyr1700=)
c.4920C= (p.Tyr1640=)
c.5175C= (p.Tyr1725=)
c.5169C= (p.Tyr1723=)
c.4737C= (p.Tyr1579=)
c.5037C= (p.Tyr1679=)
n.5488C=
9g.104798448G>TCA374313969ABCA1c.5094C>A (p.Tyr1698Ter)
c.5100C>A (p.Tyr1700Ter)
c.4920C>A (p.Tyr1640Ter)
c.5175C>A (p.Tyr1725Ter)
c.5169C>A (p.Tyr1723Ter)
c.4737C>A (p.Tyr1579Ter)
c.5037C>A (p.Tyr1679Ter)
n.5488C>A
9g.104798449T>ACA374313970ABCA1c.5093A>T (p.Tyr1698Phe)
c.5099A>T (p.Tyr1700Phe)
c.4919A>T (p.Tyr1640Phe)
c.5174A>T (p.Tyr1725Phe)
c.5168A>T (p.Tyr1723Phe)
c.4736A>T (p.Tyr1579Phe)
c.5036A>T (p.Tyr1679Phe)
n.5487A>T
9g.104798449T>CCA374313971ABCA1c.5093A>G (p.Tyr1698Cys)
c.5099A>G (p.Tyr1700Cys)
c.4919A>G (p.Tyr1640Cys)
c.5174A>G (p.Tyr1725Cys)
c.5168A>G (p.Tyr1723Cys)
c.4736A>G (p.Tyr1579Cys)
c.5036A>G (p.Tyr1679Cys)
n.5487A>G
9g.104798449T>GCA374313972ABCA1c.5093A>C (p.Tyr1698Ser)
c.5099A>C (p.Tyr1700Ser)
c.4919A>C (p.Tyr1640Ser)
c.5174A>C (p.Tyr1725Ser)
c.5168A>C (p.Tyr1723Ser)
c.4736A>C (p.Tyr1579Ser)
c.5036A>C (p.Tyr1679Ser)
n.5487A>C
9g.104798450A>CCA374313973ABCA1c.5092T>G (p.Tyr1698Asp)
c.5098T>G (p.Tyr1700Asp)
c.4918T>G (p.Tyr1640Asp)
c.5173T>G (p.Tyr1725Asp)
c.5167T>G (p.Tyr1723Asp)
c.4735T>G (p.Tyr1579Asp)
c.5035T>G (p.Tyr1679Asp)
n.5486T>G
9g.104798450A>GCA374313974ABCA1c.5092T>C (p.Tyr1698His)
c.5098T>C (p.Tyr1700His)
c.4918T>C (p.Tyr1640His)
c.5173T>C (p.Tyr1725His)
c.5167T>C (p.Tyr1723His)
c.4735T>C (p.Tyr1579His)
c.5035T>C (p.Tyr1679His)
n.5486T>C
9g.104798450A>TCA374313975ABCA1c.5092T>A (p.Tyr1698Asn)
c.5098T>A (p.Tyr1700Asn)
c.4918T>A (p.Tyr1640Asn)
c.5173T>A (p.Tyr1725Asn)
c.5167T>A (p.Tyr1723Asn)
c.4735T>A (p.Tyr1579Asn)
c.5035T>A (p.Tyr1679Asn)
n.5486T>A
9g.104798451G>ACA466503099ABCA1c.5091C>T (p.Ile1697=)
c.5097C>T (p.Ile1699=)
c.4917C>T (p.Ile1639=)
c.5172C>T (p.Ile1724=)
c.5166C>T (p.Ile1722=)
c.4734C>T (p.Ile1578=)
c.5034C>T (p.Ile1678=)
n.5485C>T
9g.104798451G>CCA374313976ABCA1c.5091C>G (p.Ile1697Met)
c.5097C>G (p.Ile1699Met)
c.4917C>G (p.Ile1639Met)
c.5172C>G (p.Ile1724Met)
c.5166C>G (p.Ile1722Met)
c.4734C>G (p.Ile1578Met)
c.5034C>G (p.Ile1678Met)
n.5485C>G
9g.104798451G>TCA466503100ABCA1c.5091C>A (p.Ile1697=)
c.5097C>A (p.Ile1699=)
c.4917C>A (p.Ile1639=)
c.5172C>A (p.Ile1724=)
c.5166C>A (p.Ile1722=)
c.4734C>A (p.Ile1578=)
c.5034C>A (p.Ile1678=)
n.5485C>A
 gnomAD v4
9g.104798452delCA2691050508ABCA1c.5090del (p.Ile1697ThrfsTer?)
c.5096del (p.Ile1699ThrfsTer?)
c.4916del (p.Ile1639ThrfsTer?)
c.5171del (p.Ile1724ThrfsTer?)
c.5165del (p.Ile1722ThrfsTer?)
c.4733del (p.Ile1578ThrfsTer?)
c.5033del (p.Ile1678ThrfsTer?)
n.5484del
 gnomAD v4
9g.104798452A>CCA374313977ABCA1c.5090T>G (p.Ile1697Ser)
c.5096T>G (p.Ile1699Ser)
c.4916T>G (p.Ile1639Ser)
c.5171T>G (p.Ile1724Ser)
c.5165T>G (p.Ile1722Ser)
c.4733T>G (p.Ile1578Ser)
c.5033T>G (p.Ile1678Ser)
n.5484T>G
9g.104798452A>GCA374313979ABCA1c.5090T>C (p.Ile1697Thr)
c.5096T>C (p.Ile1699Thr)
c.4916T>C (p.Ile1639Thr)
c.5171T>C (p.Ile1724Thr)
c.5165T>C (p.Ile1722Thr)
c.4733T>C (p.Ile1578Thr)
c.5033T>C (p.Ile1678Thr)
n.5484T>C
9g.104798452A>TCA374313978ABCA1c.5090T>A (p.Ile1697Asn)
c.5096T>A (p.Ile1699Asn)
c.4916T>A (p.Ile1639Asn)
c.5171T>A (p.Ile1724Asn)
c.5165T>A (p.Ile1722Asn)
c.4733T>A (p.Ile1578Asn)
c.5033T>A (p.Ile1678Asn)
n.5484T>A
9g.104798453T>ACA374313980ABCA1c.5089A>T (p.Ile1697Phe)
c.5095A>T (p.Ile1699Phe)
c.4915A>T (p.Ile1639Phe)
c.5170A>T (p.Ile1724Phe)
c.5164A>T (p.Ile1722Phe)
c.4732A>T (p.Ile1578Phe)
c.5032A>T (p.Ile1678Phe)
n.5483A>T
9g.104798453T>CCA5167945ABCA1c.5089A>G (p.Ile1697Val)
c.5095A>G (p.Ile1699Val)
c.4915A>G (p.Ile1639Val)
c.5170A>G (p.Ile1724Val)
c.5164A>G (p.Ile1722Val)
c.4732A>G (p.Ile1578Val)
c.5032A>G (p.Ile1678Val)
n.5483A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798453T>GCA374313981ABCA1c.5089A>C (p.Ile1697Leu)
c.5095A>C (p.Ile1699Leu)
c.4915A>C (p.Ile1639Leu)
c.5170A>C (p.Ile1724Leu)
c.5164A>C (p.Ile1722Leu)
c.4732A>C (p.Ile1578Leu)
c.5032A>C (p.Ile1678Leu)
n.5483A>C
9g.104798453T=CA1869915853ABCA1c.5089A= (p.Ile1697=)
c.5095A= (p.Ile1699=)
c.4915A= (p.Ile1639=)
c.5170A= (p.Ile1724=)
c.5164A= (p.Ile1722=)
c.4732A= (p.Ile1578=)
c.5032A= (p.Ile1678=)
n.5483A=
9g.104798454G>ACA5167946ABCA1c.5088C>T (p.Val1696=)
c.5094C>T (p.Val1698=)
c.4914C>T (p.Val1638=)
c.5169C>T (p.Val1723=)
c.5163C>T (p.Val1721=)
c.4731C>T (p.Val1577=)
c.5031C>T (p.Val1677=)
n.5482C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798454G>CCA466503101ABCA1c.5088C>G (p.Val1696=)
c.5094C>G (p.Val1698=)
c.4914C>G (p.Val1638=)
c.5169C>G (p.Val1723=)
c.5163C>G (p.Val1721=)
c.4731C>G (p.Val1577=)
c.5031C>G (p.Val1677=)
n.5482C>G
9g.104798454G=CA1869915861ABCA1c.5088C= (p.Val1696=)
c.5094C= (p.Val1698=)
c.4914C= (p.Val1638=)
c.5169C= (p.Val1723=)
c.5163C= (p.Val1721=)
c.4731C= (p.Val1577=)
c.5031C= (p.Val1677=)
n.5482C=
9g.104798454G>TCA466503102ABCA1c.5088C>A (p.Val1696=)
c.5094C>A (p.Val1698=)
c.4914C>A (p.Val1638=)
c.5169C>A (p.Val1723=)
c.5163C>A (p.Val1721=)
c.4731C>A (p.Val1577=)
c.5031C>A (p.Val1677=)
n.5482C>A
 dbSNP
9g.104798455A>CCA374313982ABCA1c.5087T>G (p.Val1696Gly)
c.5093T>G (p.Val1698Gly)
c.4913T>G (p.Val1638Gly)
c.5168T>G (p.Val1723Gly)
c.5162T>G (p.Val1721Gly)
c.4730T>G (p.Val1577Gly)
c.5030T>G (p.Val1677Gly)
n.5481T>G
9g.104798455A>GCA374313984ABCA1c.5087T>C (p.Val1696Ala)
c.5093T>C (p.Val1698Ala)
c.4913T>C (p.Val1638Ala)
c.5168T>C (p.Val1723Ala)
c.5162T>C (p.Val1721Ala)
c.4730T>C (p.Val1577Ala)
c.5030T>C (p.Val1677Ala)
n.5481T>C
9g.104798455A>TCA374313983ABCA1c.5087T>A (p.Val1696Asp)
c.5093T>A (p.Val1698Asp)
c.4913T>A (p.Val1638Asp)
c.5168T>A (p.Val1723Asp)
c.5162T>A (p.Val1721Asp)
c.4730T>A (p.Val1577Asp)
c.5030T>A (p.Val1677Asp)
n.5481T>A
9g.104798456C>ACA374313985ABCA1c.5086G>T (p.Val1696Phe)
c.5092G>T (p.Val1698Phe)
c.4912G>T (p.Val1638Phe)
c.5167G>T (p.Val1723Phe)
c.5161G>T (p.Val1721Phe)
c.4729G>T (p.Val1577Phe)
c.5029G>T (p.Val1677Phe)
n.5480G>T
9g.104798456C>GCA374313986ABCA1c.5086G>C (p.Val1696Leu)
c.5092G>C (p.Val1698Leu)
c.4912G>C (p.Val1638Leu)
c.5167G>C (p.Val1723Leu)
c.5161G>C (p.Val1721Leu)
c.4729G>C (p.Val1577Leu)
c.5029G>C (p.Val1677Leu)
n.5480G>C
9g.104798456C>TCA374313987ABCA1c.5086G>A (p.Val1696Ile)
c.5092G>A (p.Val1698Ile)
c.4912G>A (p.Val1638Ile)
c.5167G>A (p.Val1723Ile)
c.5161G>A (p.Val1721Ile)
c.4729G>A (p.Val1577Ile)
c.5029G>A (p.Val1677Ile)
n.5480G>A
9g.104798457A>CCA466503103ABCA1c.5085T>G (p.Pro1695=)
c.5091T>G (p.Pro1697=)
c.4911T>G (p.Pro1637=)
c.5166T>G (p.Pro1722=)
c.5160T>G (p.Pro1720=)
c.4728T>G (p.Pro1576=)
c.5028T>G (p.Pro1676=)
n.5479T>G
9g.104798457A>GCA466503104ABCA1c.5085T>C (p.Pro1695=)
c.5091T>C (p.Pro1697=)
c.4911T>C (p.Pro1637=)
c.5166T>C (p.Pro1722=)
c.5160T>C (p.Pro1720=)
c.4728T>C (p.Pro1576=)
c.5028T>C (p.Pro1676=)
n.5479T>C
 gnomAD v4
9g.104798457A>TCA466503105ABCA1c.5085T>A (p.Pro1695=)
c.5091T>A (p.Pro1697=)
c.4911T>A (p.Pro1637=)
c.5166T>A (p.Pro1722=)
c.5160T>A (p.Pro1720=)
c.4728T>A (p.Pro1576=)
c.5028T>A (p.Pro1676=)
n.5479T>A
9g.104798458G>ACA5167947ABCA1c.5084C>T (p.Pro1695Leu)
c.5090C>T (p.Pro1697Leu)
c.4910C>T (p.Pro1637Leu)
c.5165C>T (p.Pro1722Leu)
c.5159C>T (p.Pro1720Leu)
c.4727C>T (p.Pro1576Leu)
c.5027C>T (p.Pro1676Leu)
n.5478C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798458G>CCA374313988ABCA1c.5084C>G (p.Pro1695Arg)
c.5090C>G (p.Pro1697Arg)
c.4910C>G (p.Pro1637Arg)
c.5165C>G (p.Pro1722Arg)
c.5159C>G (p.Pro1720Arg)
c.4727C>G (p.Pro1576Arg)
c.5027C>G (p.Pro1676Arg)
n.5478C>G
 dbSNP
9g.104798458G=CA1869915872ABCA1c.5084C= (p.Pro1695=)
c.5090C= (p.Pro1697=)
c.4910C= (p.Pro1637=)
c.5165C= (p.Pro1722=)
c.5159C= (p.Pro1720=)
c.4727C= (p.Pro1576=)
c.5027C= (p.Pro1676=)
n.5478C=
9g.104798458G>TCA374313989ABCA1c.5084C>A (p.Pro1695His)
c.5090C>A (p.Pro1697His)
c.4910C>A (p.Pro1637His)
c.5165C>A (p.Pro1722His)
c.5159C>A (p.Pro1720His)
c.4727C>A (p.Pro1576His)
c.5027C>A (p.Pro1676His)
n.5478C>A
9g.104798459G>ACA5167948ABCA1c.5083C>T (p.Pro1695Ser)
c.5089C>T (p.Pro1697Ser)
c.4909C>T (p.Pro1637Ser)
c.5164C>T (p.Pro1722Ser)
c.5158C>T (p.Pro1720Ser)
c.4726C>T (p.Pro1576Ser)
c.5026C>T (p.Pro1676Ser)
n.5477C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798459G>CCA374313990ABCA1c.5083C>G (p.Pro1695Ala)
c.5089C>G (p.Pro1697Ala)
c.4909C>G (p.Pro1637Ala)
c.5164C>G (p.Pro1722Ala)
c.5158C>G (p.Pro1720Ala)
c.4726C>G (p.Pro1576Ala)
c.5026C>G (p.Pro1676Ala)
n.5477C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104798459G=CA1869915877ABCA1c.5083C= (p.Pro1695=)
c.5089C= (p.Pro1697=)
c.4909C= (p.Pro1637=)
c.5164C= (p.Pro1722=)
c.5158C= (p.Pro1720=)
c.4726C= (p.Pro1576=)
c.5026C= (p.Pro1676=)
n.5477C=
9g.104798459G>TCA374313991ABCA1c.5083C>A (p.Pro1695Thr)
c.5089C>A (p.Pro1697Thr)
c.4909C>A (p.Pro1637Thr)
c.5164C>A (p.Pro1722Thr)
c.5158C>A (p.Pro1720Thr)
c.4726C>A (p.Pro1576Thr)
c.5026C>A (p.Pro1676Thr)
n.5477C>A
9g.104798460C>ACA374313992ABCA1c.5082G>T (p.Lys1694Asn)
c.5088G>T (p.Lys1696Asn)
c.4908G>T (p.Lys1636Asn)
c.5163G>T (p.Lys1721Asn)
c.5157G>T (p.Lys1719Asn)
c.4725G>T (p.Lys1575Asn)
c.5025G>T (p.Lys1675Asn)
n.5476G>T
9g.104798460C=CA1869915881ABCA1c.5082G= (p.Lys1694=)
c.5088G= (p.Lys1696=)
c.4908G= (p.Lys1636=)
c.5163G= (p.Lys1721=)
c.5157G= (p.Lys1719=)
c.4725G= (p.Lys1575=)
c.5025G= (p.Lys1675=)
n.5476G=
9g.104798460C>GCA374313993ABCA1c.5082G>C (p.Lys1694Asn)
c.5088G>C (p.Lys1696Asn)
c.4908G>C (p.Lys1636Asn)
c.5163G>C (p.Lys1721Asn)
c.5157G>C (p.Lys1719Asn)
c.4725G>C (p.Lys1575Asn)
c.5025G>C (p.Lys1675Asn)
n.5476G>C
9g.104798460C>TCA466503109ABCA1c.5082G>A (p.Lys1694=)
c.5088G>A (p.Lys1696=)
c.4908G>A (p.Lys1636=)
c.5163G>A (p.Lys1721=)
c.5157G>A (p.Lys1719=)
c.4725G>A (p.Lys1575=)
c.5025G>A (p.Lys1675=)
n.5476G>A
 dbSNP
9g.104798461T>ACA374313994ABCA1c.5081A>T (p.Lys1694Met)
c.5087A>T (p.Lys1696Met)
c.4907A>T (p.Lys1636Met)
c.5162A>T (p.Lys1721Met)
c.5156A>T (p.Lys1719Met)
c.4724A>T (p.Lys1575Met)
c.5024A>T (p.Lys1675Met)
n.5475A>T
9g.104798461T>CCA374313996ABCA1c.5081A>G (p.Lys1694Arg)
c.5087A>G (p.Lys1696Arg)
c.4907A>G (p.Lys1636Arg)
c.5162A>G (p.Lys1721Arg)
c.5156A>G (p.Lys1719Arg)
c.4724A>G (p.Lys1575Arg)
c.5024A>G (p.Lys1675Arg)
n.5475A>G
9g.104798461T>GCA374313995ABCA1c.5081A>C (p.Lys1694Thr)
c.5087A>C (p.Lys1696Thr)
c.4907A>C (p.Lys1636Thr)
c.5162A>C (p.Lys1721Thr)
c.5156A>C (p.Lys1719Thr)
c.4724A>C (p.Lys1575Thr)
c.5024A>C (p.Lys1675Thr)
n.5475A>C
9g.104798462T>ACA374313997ABCA1c.5080A>T (p.Lys1694Ter)
c.5086A>T (p.Lys1696Ter)
c.4906A>T (p.Lys1636Ter)
c.5161A>T (p.Lys1721Ter)
c.5155A>T (p.Lys1719Ter)
c.4723A>T (p.Lys1575Ter)
c.5023A>T (p.Lys1675Ter)
n.5474A>T
9g.104798462T>CCA374313999ABCA1c.5080A>G (p.Lys1694Glu)
c.5086A>G (p.Lys1696Glu)
c.4906A>G (p.Lys1636Glu)
c.5161A>G (p.Lys1721Glu)
c.5155A>G (p.Lys1719Glu)
c.4723A>G (p.Lys1575Glu)
c.5023A>G (p.Lys1675Glu)
n.5474A>G
9g.104798462T>GCA374313998ABCA1c.5080A>C (p.Lys1694Gln)
c.5086A>C (p.Lys1696Gln)
c.4906A>C (p.Lys1636Gln)
c.5161A>C (p.Lys1721Gln)
c.5155A>C (p.Lys1719Gln)
c.4723A>C (p.Lys1575Gln)
c.5023A>C (p.Lys1675Gln)
n.5474A>C
9g.104798463C>ACA466503110ABCA1c.5079G>T (p.Val1693=)
c.5085G>T (p.Val1695=)
c.4905G>T (p.Val1635=)
c.5160G>T (p.Val1720=)
c.5154G>T (p.Val1718=)
c.4722G>T (p.Val1574=)
c.5022G>T (p.Val1674=)
n.5473G>T
9g.104798463C=CA1869915883ABCA1c.5079G= (p.Val1693=)
c.5085G= (p.Val1695=)
c.4905G= (p.Val1635=)
c.5160G= (p.Val1720=)
c.5154G= (p.Val1718=)
c.4722G= (p.Val1574=)
c.5022G= (p.Val1674=)
n.5473G=
9g.104798463C>GCA466503111ABCA1c.5079G>C (p.Val1693=)
c.5085G>C (p.Val1695=)
c.4905G>C (p.Val1635=)
c.5160G>C (p.Val1720=)
c.5154G>C (p.Val1718=)
c.4722G>C (p.Val1574=)
c.5022G>C (p.Val1674=)
n.5473G>C
9g.104798463C>TCA5167949ABCA1c.5079G>A (p.Val1693=)
c.5085G>A (p.Val1695=)
c.4905G>A (p.Val1635=)
c.5160G>A (p.Val1720=)
c.5154G>A (p.Val1718=)
c.4722G>A (p.Val1574=)
c.5022G>A (p.Val1674=)
n.5473G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798464A>CCA374314000ABCA1c.5078T>G (p.Val1693Gly)
c.5084T>G (p.Val1695Gly)
c.4904T>G (p.Val1635Gly)
c.5159T>G (p.Val1720Gly)
c.5153T>G (p.Val1718Gly)
c.4721T>G (p.Val1574Gly)
c.5021T>G (p.Val1674Gly)
n.5472T>G
9g.104798464A>GCA374314001ABCA1c.5078T>C (p.Val1693Ala)
c.5084T>C (p.Val1695Ala)
c.4904T>C (p.Val1635Ala)
c.5159T>C (p.Val1720Ala)
c.5153T>C (p.Val1718Ala)
c.4721T>C (p.Val1574Ala)
c.5021T>C (p.Val1674Ala)
n.5472T>C
9g.104798464A>TCA374314002ABCA1c.5078T>A (p.Val1693Glu)
c.5084T>A (p.Val1695Glu)
c.4904T>A (p.Val1635Glu)
c.5159T>A (p.Val1720Glu)
c.5153T>A (p.Val1718Glu)
c.4721T>A (p.Val1574Glu)
c.5021T>A (p.Val1674Glu)
n.5472T>A
9g.104798465C>ACA374314003ABCA1c.5077G>T (p.Val1693Leu)
c.5083G>T (p.Val1695Leu)
c.4903G>T (p.Val1635Leu)
c.5158G>T (p.Val1720Leu)
c.5152G>T (p.Val1718Leu)
c.4720G>T (p.Val1574Leu)
c.5020G>T (p.Val1674Leu)
n.5471G>T
9g.104798465C>GCA374314004ABCA1c.5077G>C (p.Val1693Leu)
c.5083G>C (p.Val1695Leu)
c.4903G>C (p.Val1635Leu)
c.5158G>C (p.Val1720Leu)
c.5152G>C (p.Val1718Leu)
c.4720G>C (p.Val1574Leu)
c.5020G>C (p.Val1674Leu)
n.5471G>C
9g.104798465C>TCA374314005ABCA1c.5077G>A (p.Val1693Met)
c.5083G>A (p.Val1695Met)
c.4903G>A (p.Val1635Met)
c.5158G>A (p.Val1720Met)
c.5152G>A (p.Val1718Met)
c.4720G>A (p.Val1574Met)
c.5020G>A (p.Val1674Met)
n.5471G>A
 gnomAD v4
9g.104798466T>ACA466503112ABCA1c.5076A>T (p.Gly1692=)
c.5082A>T (p.Gly1694=)
c.4902A>T (p.Gly1634=)
c.5157A>T (p.Gly1719=)
c.5151A>T (p.Gly1717=)
c.4719A>T (p.Gly1573=)
c.5019A>T (p.Gly1673=)
n.5470A>T
9g.104798466T>CCA466503113ABCA1c.5076A>G (p.Gly1692=)
c.5082A>G (p.Gly1694=)
c.4902A>G (p.Gly1634=)
c.5157A>G (p.Gly1719=)
c.5151A>G (p.Gly1717=)
c.4719A>G (p.Gly1573=)
c.5019A>G (p.Gly1673=)
n.5470A>G
 gnomAD v4
9g.104798466T>GCA466503114ABCA1c.5076A>C (p.Gly1692=)
c.5082A>C (p.Gly1694=)
c.4902A>C (p.Gly1634=)
c.5157A>C (p.Gly1719=)
c.5151A>C (p.Gly1717=)
c.4719A>C (p.Gly1573=)
c.5019A>C (p.Gly1673=)
n.5470A>C
 gnomAD v4
9g.104798467C>ACA374314006ABCA1c.5075G>T (p.Gly1692Val)
c.5081G>T (p.Gly1694Val)
c.4901G>T (p.Gly1634Val)
c.5156G>T (p.Gly1719Val)
c.5150G>T (p.Gly1717Val)
c.4718G>T (p.Gly1573Val)
c.5018G>T (p.Gly1673Val)
n.5469G>T
9g.104798467C=CA1869915890ABCA1c.5075G= (p.Gly1692=)
c.5081G= (p.Gly1694=)
c.4901G= (p.Gly1634=)
c.5156G= (p.Gly1719=)
c.5150G= (p.Gly1717=)
c.4718G= (p.Gly1573=)
c.5018G= (p.Gly1673=)
n.5469G=
9g.104798467C>GCA374314007ABCA1c.5075G>C (p.Gly1692Ala)
c.5081G>C (p.Gly1694Ala)
c.4901G>C (p.Gly1634Ala)
c.5156G>C (p.Gly1719Ala)
c.5150G>C (p.Gly1717Ala)
c.4718G>C (p.Gly1573Ala)
c.5018G>C (p.Gly1673Ala)
n.5469G>C
9g.104798467C>TCA374314008ABCA1c.5075G>A (p.Gly1692Glu)
c.5081G>A (p.Gly1694Glu)
c.4901G>A (p.Gly1634Glu)
c.5156G>A (p.Gly1719Glu)
c.5150G>A (p.Gly1717Glu)
c.4718G>A (p.Gly1573Glu)
c.5018G>A (p.Gly1673Glu)
n.5469G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104798468C>ACA374314009ABCA1c.5074G>T (p.Gly1692Ter)
c.5080G>T (p.Gly1694Ter)
c.4900G>T (p.Gly1634Ter)
c.5155G>T (p.Gly1719Ter)
c.5149G>T (p.Gly1717Ter)
c.4717G>T (p.Gly1573Ter)
c.5017G>T (p.Gly1673Ter)
n.5468G>T
9g.104798468C>GCA374314010ABCA1c.5074G>C (p.Gly1692Arg)
c.5080G>C (p.Gly1694Arg)
c.4900G>C (p.Gly1634Arg)
c.5155G>C (p.Gly1719Arg)
c.5149G>C (p.Gly1717Arg)
c.4717G>C (p.Gly1573Arg)
c.5017G>C (p.Gly1673Arg)
n.5468G>C
9g.104798468C>TCA374314011ABCA1c.5074G>A (p.Gly1692Arg)
c.5080G>A (p.Gly1694Arg)
c.4900G>A (p.Gly1634Arg)
c.5155G>A (p.Gly1719Arg)
c.5149G>A (p.Gly1717Arg)
c.4717G>A (p.Gly1573Arg)
c.5017G>A (p.Gly1673Arg)
n.5468G>A
9g.104798469A>CCA374314012ABCA1c.5073T>G (p.Ser1691Arg)
c.5079T>G (p.Ser1693Arg)
c.4899T>G (p.Ser1633Arg)
c.5154T>G (p.Ser1718Arg)
c.5148T>G (p.Ser1716Arg)
c.4716T>G (p.Ser1572Arg)
c.5016T>G (p.Ser1672Arg)
n.5467T>G
9g.104798469A>GCA466503115ABCA1c.5073T>C (p.Ser1691=)
c.5079T>C (p.Ser1693=)
c.4899T>C (p.Ser1633=)
c.5154T>C (p.Ser1718=)
c.5148T>C (p.Ser1716=)
c.4716T>C (p.Ser1572=)
c.5016T>C (p.Ser1672=)
n.5467T>C
9g.104798469A>TCA374314013ABCA1c.5073T>A (p.Ser1691Arg)
c.5079T>A (p.Ser1693Arg)
c.4899T>A (p.Ser1633Arg)
c.5154T>A (p.Ser1718Arg)
c.5148T>A (p.Ser1716Arg)
c.4716T>A (p.Ser1572Arg)
c.5016T>A (p.Ser1672Arg)
n.5467T>A
9g.104798470C>ACA374314014ABCA1c.5072G>T (p.Ser1691Ile)
c.5078G>T (p.Ser1693Ile)
c.4898G>T (p.Ser1633Ile)
c.5153G>T (p.Ser1718Ile)
c.5147G>T (p.Ser1716Ile)
c.4715G>T (p.Ser1572Ile)
c.5015G>T (p.Ser1672Ile)
n.5466G>T
9g.104798470C>GCA374314015ABCA1c.5072G>C (p.Ser1691Thr)
c.5078G>C (p.Ser1693Thr)
c.4898G>C (p.Ser1633Thr)
c.5153G>C (p.Ser1718Thr)
c.5147G>C (p.Ser1716Thr)
c.4715G>C (p.Ser1572Thr)
c.5015G>C (p.Ser1672Thr)
n.5466G>C
9g.104798470C>TCA374314016ABCA1c.5072G>A (p.Ser1691Asn)
c.5078G>A (p.Ser1693Asn)
c.4898G>A (p.Ser1633Asn)
c.5153G>A (p.Ser1718Asn)
c.5147G>A (p.Ser1716Asn)
c.4715G>A (p.Ser1572Asn)
c.5015G>A (p.Ser1672Asn)
n.5466G>A
9g.104798471T>ACA374314017ABCA1c.5071A>T (p.Ser1691Cys)
c.5077A>T (p.Ser1693Cys)
c.4897A>T (p.Ser1633Cys)
c.5152A>T (p.Ser1718Cys)
c.5146A>T (p.Ser1716Cys)
c.4714A>T (p.Ser1572Cys)
c.5014A>T (p.Ser1672Cys)
n.5465A>T
9g.104798471T>CCA374314018ABCA1c.5071A>G (p.Ser1691Gly)
c.5077A>G (p.Ser1693Gly)
c.4897A>G (p.Ser1633Gly)
c.5152A>G (p.Ser1718Gly)
c.5146A>G (p.Ser1716Gly)
c.4714A>G (p.Ser1572Gly)
c.5014A>G (p.Ser1672Gly)
n.5465A>G
9g.104798471T>GCA374314019ABCA1c.5071A>C (p.Ser1691Arg)
c.5077A>C (p.Ser1693Arg)
c.4897A>C (p.Ser1633Arg)
c.5152A>C (p.Ser1718Arg)
c.5146A>C (p.Ser1716Arg)
c.4714A>C (p.Ser1572Arg)
c.5014A>C (p.Ser1672Arg)
n.5465A>C
9g.104798472G>ACA466503116ABCA1c.5070C>T (p.Ile1690=)
c.5076C>T (p.Ile1692=)
c.4896C>T (p.Ile1632=)
c.5151C>T (p.Ile1717=)
c.5145C>T (p.Ile1715=)
c.4713C>T (p.Ile1571=)
c.5013C>T (p.Ile1671=)
n.5464C>T
 gnomAD v4
9g.104798472G>CCA374314020ABCA1c.5070C>G (p.Ile1690Met)
c.5076C>G (p.Ile1692Met)
c.4896C>G (p.Ile1632Met)
c.5151C>G (p.Ile1717Met)
c.5145C>G (p.Ile1715Met)
c.4713C>G (p.Ile1571Met)
c.5013C>G (p.Ile1671Met)
n.5464C>G
9g.104798472G>TCA466503117ABCA1c.5070C>A (p.Ile1690=)
c.5076C>A (p.Ile1692=)
c.4896C>A (p.Ile1632=)
c.5151C>A (p.Ile1717=)
c.5145C>A (p.Ile1715=)
c.4713C>A (p.Ile1571=)
c.5013C>A (p.Ile1671=)
n.5464C>A
9g.104798473A>CCA374314021ABCA1c.5069T>G (p.Ile1690Ser)
c.5075T>G (p.Ile1692Ser)
c.4895T>G (p.Ile1632Ser)
c.5150T>G (p.Ile1717Ser)
c.5144T>G (p.Ile1715Ser)
c.4712T>G (p.Ile1571Ser)
c.5012T>G (p.Ile1671Ser)
n.5463T>G
 gnomAD v4
9g.104798473A>GCA374314022ABCA1c.5069T>C (p.Ile1690Thr)
c.5075T>C (p.Ile1692Thr)
c.4895T>C (p.Ile1632Thr)
c.5150T>C (p.Ile1717Thr)
c.5144T>C (p.Ile1715Thr)
c.4712T>C (p.Ile1571Thr)
c.5012T>C (p.Ile1671Thr)
n.5463T>C
9g.104798473A>TCA374314023ABCA1c.5069T>A (p.Ile1690Asn)
c.5075T>A (p.Ile1692Asn)
c.4895T>A (p.Ile1632Asn)
c.5150T>A (p.Ile1717Asn)
c.5144T>A (p.Ile1715Asn)
c.4712T>A (p.Ile1571Asn)
c.5012T>A (p.Ile1671Asn)
n.5463T>A
9g.104798474T>ACA374314025ABCA1c.5068A>T (p.Ile1690Phe)
c.5074A>T (p.Ile1692Phe)
c.4894A>T (p.Ile1632Phe)
c.5149A>T (p.Ile1717Phe)
c.5143A>T (p.Ile1715Phe)
c.4711A>T (p.Ile1571Phe)
c.5011A>T (p.Ile1671Phe)
n.5462A>T
9g.104798474T>CCA5167950ABCA1c.5068A>G (p.Ile1690Val)
c.5074A>G (p.Ile1692Val)
c.4894A>G (p.Ile1632Val)
c.5149A>G (p.Ile1717Val)
c.5143A>G (p.Ile1715Val)
c.4711A>G (p.Ile1571Val)
c.5011A>G (p.Ile1671Val)
n.5462A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798474T>GCA374314024ABCA1c.5068A>C (p.Ile1690Leu)
c.5074A>C (p.Ile1692Leu)
c.4894A>C (p.Ile1632Leu)
c.5149A>C (p.Ile1717Leu)
c.5143A>C (p.Ile1715Leu)
c.4711A>C (p.Ile1571Leu)
c.5011A>C (p.Ile1671Leu)
n.5462A>C
9g.104798474T=CA1869915900ABCA1c.5068A= (p.Ile1690=)
c.5074A= (p.Ile1692=)
c.4894A= (p.Ile1632=)
c.5149A= (p.Ile1717=)
c.5143A= (p.Ile1715=)
c.4711A= (p.Ile1571=)
c.5011A= (p.Ile1671=)
n.5462A=
9g.104798475G>ACA466503118ABCA1c.5067C>T (p.Phe1689=)
c.5073C>T (p.Phe1691=)
c.4893C>T (p.Phe1631=)
c.5148C>T (p.Phe1716=)
c.5142C>T (p.Phe1714=)
c.4710C>T (p.Phe1570=)
c.5010C>T (p.Phe1670=)
n.5461C>T
9g.104798475G>CCA374314026ABCA1c.5067C>G (p.Phe1689Leu)
c.5073C>G (p.Phe1691Leu)
c.4893C>G (p.Phe1631Leu)
c.5148C>G (p.Phe1716Leu)
c.5142C>G (p.Phe1714Leu)
c.4710C>G (p.Phe1570Leu)
c.5010C>G (p.Phe1670Leu)
n.5461C>G
9g.104798475G>TCA374314027ABCA1c.5067C>A (p.Phe1689Leu)
c.5073C>A (p.Phe1691Leu)
c.4893C>A (p.Phe1631Leu)
c.5148C>A (p.Phe1716Leu)
c.5142C>A (p.Phe1714Leu)
c.4710C>A (p.Phe1570Leu)
c.5010C>A (p.Phe1670Leu)
n.5461C>A
9g.104798476A>CCA374314028ABCA1c.5066T>G (p.Phe1689Cys)
c.5072T>G (p.Phe1691Cys)
c.4892T>G (p.Phe1631Cys)
c.5147T>G (p.Phe1716Cys)
c.5141T>G (p.Phe1714Cys)
c.4709T>G (p.Phe1570Cys)
c.5009T>G (p.Phe1670Cys)
n.5460T>G
9g.104798476A>GCA374314029ABCA1c.5066T>C (p.Phe1689Ser)
c.5072T>C (p.Phe1691Ser)
c.4892T>C (p.Phe1631Ser)
c.5147T>C (p.Phe1716Ser)
c.5141T>C (p.Phe1714Ser)
c.4709T>C (p.Phe1570Ser)
c.5009T>C (p.Phe1670Ser)
n.5460T>C
9g.104798476A>TCA374314030ABCA1c.5066T>A (p.Phe1689Tyr)
c.5072T>A (p.Phe1691Tyr)
c.4892T>A (p.Phe1631Tyr)
c.5147T>A (p.Phe1716Tyr)
c.5141T>A (p.Phe1714Tyr)
c.4709T>A (p.Phe1570Tyr)
c.5009T>A (p.Phe1670Tyr)
n.5460T>A
 ClinVar gnomAD v4
9g.104798477A>CCA374314031ABCA1c.5065T>G (p.Phe1689Val)
c.5071T>G (p.Phe1691Val)
c.4891T>G (p.Phe1631Val)
c.5146T>G (p.Phe1716Val)
c.5140T>G (p.Phe1714Val)
c.4708T>G (p.Phe1570Val)
c.5008T>G (p.Phe1670Val)
n.5459T>G
9g.104798477A>GCA374314032ABCA1c.5065T>C (p.Phe1689Leu)
c.5071T>C (p.Phe1691Leu)
c.4891T>C (p.Phe1631Leu)
c.5146T>C (p.Phe1716Leu)
c.5140T>C (p.Phe1714Leu)
c.4708T>C (p.Phe1570Leu)
c.5008T>C (p.Phe1670Leu)
n.5459T>C
9g.104798477A>TCA374314033ABCA1c.5065T>A (p.Phe1689Ile)
c.5071T>A (p.Phe1691Ile)
c.4891T>A (p.Phe1631Ile)
c.5146T>A (p.Phe1716Ile)
c.5140T>A (p.Phe1714Ile)
c.4708T>A (p.Phe1570Ile)
c.5008T>A (p.Phe1670Ile)
n.5459T>A
9g.104798478C>ACA374314034ABCA1c.5064G>T (p.Gln1688His)
c.5070G>T (p.Gln1690His)
c.4890G>T (p.Gln1630His)
c.5145G>T (p.Gln1715His)
c.5139G>T (p.Gln1713His)
c.4707G>T (p.Gln1569His)
c.5007G>T (p.Gln1669His)
n.5458G>T
9g.104798478C>GCA374314035ABCA1c.5064G>C (p.Gln1688His)
c.5070G>C (p.Gln1690His)
c.4890G>C (p.Gln1630His)
c.5145G>C (p.Gln1715His)
c.5139G>C (p.Gln1713His)
c.4707G>C (p.Gln1569His)
c.5007G>C (p.Gln1669His)
n.5458G>C
9g.104798478C>TCA466503119ABCA1c.5064G>A (p.Gln1688=)
c.5070G>A (p.Gln1690=)
c.4890G>A (p.Gln1630=)
c.5145G>A (p.Gln1715=)
c.5139G>A (p.Gln1713=)
c.4707G>A (p.Gln1569=)
c.5007G>A (p.Gln1669=)
n.5458G>A
9g.104798479T>ACA374314036ABCA1c.5063A>T (p.Gln1688Leu)
c.5069A>T (p.Gln1690Leu)
c.4889A>T (p.Gln1630Leu)
c.5144A>T (p.Gln1715Leu)
c.5138A>T (p.Gln1713Leu)
c.4706A>T (p.Gln1569Leu)
c.5006A>T (p.Gln1669Leu)
n.5457A>T
9g.104798479T>CCA374314037ABCA1c.5063A>G (p.Gln1688Arg)
c.5069A>G (p.Gln1690Arg)
c.4889A>G (p.Gln1630Arg)
c.5144A>G (p.Gln1715Arg)
c.5138A>G (p.Gln1713Arg)
c.4706A>G (p.Gln1569Arg)
c.5006A>G (p.Gln1669Arg)
n.5457A>G
9g.104798479T>GCA374314038ABCA1c.5063A>C (p.Gln1688Pro)
c.5069A>C (p.Gln1690Pro)
c.4889A>C (p.Gln1630Pro)
c.5144A>C (p.Gln1715Pro)
c.5138A>C (p.Gln1713Pro)
c.4706A>C (p.Gln1569Pro)
c.5006A>C (p.Gln1669Pro)
n.5457A>C
9g.104798480G>ACA374314039ABCA1c.5062C>T (p.Gln1688Ter)
c.5068C>T (p.Gln1690Ter)
c.4888C>T (p.Gln1630Ter)
c.5143C>T (p.Gln1715Ter)
c.5137C>T (p.Gln1713Ter)
c.4705C>T (p.Gln1569Ter)
c.5005C>T (p.Gln1669Ter)
n.5456C>T
9g.104798480G>CCA374314041ABCA1c.5062C>G (p.Gln1688Glu)
c.5068C>G (p.Gln1690Glu)
c.4888C>G (p.Gln1630Glu)
c.5143C>G (p.Gln1715Glu)
c.5137C>G (p.Gln1713Glu)
c.4705C>G (p.Gln1569Glu)
c.5005C>G (p.Gln1669Glu)
n.5456C>G
9g.104798480G>TCA374314040ABCA1c.5062C>A (p.Gln1688Lys)
c.5068C>A (p.Gln1690Lys)
c.4888C>A (p.Gln1630Lys)
c.5143C>A (p.Gln1715Lys)
c.5137C>A (p.Gln1713Lys)
c.4705C>A (p.Gln1569Lys)
c.5005C>A (p.Gln1669Lys)
n.5456C>A
9g.104798481C>ACA466503120ABCA1c.5061G>T (p.Leu1687=)
c.5067G>T (p.Leu1689=)
c.4887G>T (p.Leu1629=)
c.5142G>T (p.Leu1714=)
c.5136G>T (p.Leu1712=)
c.4704G>T (p.Leu1568=)
c.5004G>T (p.Leu1668=)
n.5455G>T
9g.104798481C=CA1869915907ABCA1c.5061G= (p.Leu1687=)
c.5067G= (p.Leu1689=)
c.4887G= (p.Leu1629=)
c.5142G= (p.Leu1714=)
c.5136G= (p.Leu1712=)
c.4704G= (p.Leu1568=)
c.5004G= (p.Leu1668=)
n.5455G=
9g.104798481C>GCA466503121ABCA1c.5061G>C (p.Leu1687=)
c.5067G>C (p.Leu1689=)
c.4887G>C (p.Leu1629=)
c.5142G>C (p.Leu1714=)
c.5136G>C (p.Leu1712=)
c.4704G>C (p.Leu1568=)
c.5004G>C (p.Leu1668=)
n.5455G>C
9g.104798481C>TCA5167951ABCA1c.5061G>A (p.Leu1687=)
c.5067G>A (p.Leu1689=)
c.4887G>A (p.Leu1629=)
c.5142G>A (p.Leu1714=)
c.5136G>A (p.Leu1712=)
c.4704G>A (p.Leu1568=)
c.5004G>A (p.Leu1668=)
n.5455G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798482A>CCA374314042ABCA1c.5060T>G (p.Leu1687Arg)
c.5066T>G (p.Leu1689Arg)
c.4886T>G (p.Leu1629Arg)
c.5141T>G (p.Leu1714Arg)
c.5135T>G (p.Leu1712Arg)
c.4703T>G (p.Leu1568Arg)
c.5003T>G (p.Leu1668Arg)
n.5454T>G
9g.104798482A>GCA374314043ABCA1c.5060T>C (p.Leu1687Pro)
c.5066T>C (p.Leu1689Pro)
c.4886T>C (p.Leu1629Pro)
c.5141T>C (p.Leu1714Pro)
c.5135T>C (p.Leu1712Pro)
c.4703T>C (p.Leu1568Pro)
c.5003T>C (p.Leu1668Pro)
n.5454T>C
9g.104798482A>TCA374314044ABCA1c.5060T>A (p.Leu1687Gln)
c.5066T>A (p.Leu1689Gln)
c.4886T>A (p.Leu1629Gln)
c.5141T>A (p.Leu1714Gln)
c.5135T>A (p.Leu1712Gln)
c.4703T>A (p.Leu1568Gln)
c.5003T>A (p.Leu1668Gln)
n.5454T>A
 ClinVar
9g.104798483G>ACA466503122ABCA1c.5059C>T (p.Leu1687=)
c.5065C>T (p.Leu1689=)
c.4885C>T (p.Leu1629=)
c.5140C>T (p.Leu1714=)
c.5134C>T (p.Leu1712=)
c.4702C>T (p.Leu1568=)
c.5002C>T (p.Leu1668=)
n.5453C>T
9g.104798483G>CCA374314045ABCA1c.5059C>G (p.Leu1687Val)
c.5065C>G (p.Leu1689Val)
c.4885C>G (p.Leu1629Val)
c.5140C>G (p.Leu1714Val)
c.5134C>G (p.Leu1712Val)
c.4702C>G (p.Leu1568Val)
c.5002C>G (p.Leu1668Val)
n.5453C>G
 gnomAD v4
9g.104798483G>TCA374314046ABCA1c.5059C>A (p.Leu1687Met)
c.5065C>A (p.Leu1689Met)
c.4885C>A (p.Leu1629Met)
c.5140C>A (p.Leu1714Met)
c.5134C>A (p.Leu1712Met)
c.4702C>A (p.Leu1568Met)
c.5002C>A (p.Leu1668Met)
n.5453C>A
9g.104798484G>ACA466503123ABCA1c.5058C>T (p.His1686=)
c.5064C>T (p.His1688=)
c.4884C>T (p.His1628=)
c.5139C>T (p.His1713=)
c.5133C>T (p.His1711=)
c.4701C>T (p.His1567=)
c.5001C>T (p.His1667=)
n.5452C>T
9g.104798484G>CCA374314047ABCA1c.5058C>G (p.His1686Gln)
c.5064C>G (p.His1688Gln)
c.4884C>G (p.His1628Gln)
c.5139C>G (p.His1713Gln)
c.5133C>G (p.His1711Gln)
c.4701C>G (p.His1567Gln)
c.5001C>G (p.His1667Gln)
n.5452C>G
9g.104798484G>TCA374314048ABCA1c.5058C>A (p.His1686Gln)
c.5064C>A (p.His1688Gln)
c.4884C>A (p.His1628Gln)
c.5139C>A (p.His1713Gln)
c.5133C>A (p.His1711Gln)
c.4701C>A (p.His1567Gln)
c.5001C>A (p.His1667Gln)
n.5452C>A
9g.104798485T>ACA374314049ABCA1c.5057A>T (p.His1686Leu)
c.5063A>T (p.His1688Leu)
c.4883A>T (p.His1628Leu)
c.5138A>T (p.His1713Leu)
c.5132A>T (p.His1711Leu)
c.4700A>T (p.His1567Leu)
c.5000A>T (p.His1667Leu)
n.5451A>T
 COSMIC
9g.104798485T>CCA374314050ABCA1c.5057A>G (p.His1686Arg)
c.5063A>G (p.His1688Arg)
c.4883A>G (p.His1628Arg)
c.5138A>G (p.His1713Arg)
c.5132A>G (p.His1711Arg)
c.4700A>G (p.His1567Arg)
c.5000A>G (p.His1667Arg)
n.5451A>G
9g.104798485T>GCA374314051ABCA1c.5057A>C (p.His1686Pro)
c.5063A>C (p.His1688Pro)
c.4883A>C (p.His1628Pro)
c.5138A>C (p.His1713Pro)
c.5132A>C (p.His1711Pro)
c.4700A>C (p.His1567Pro)
c.5000A>C (p.His1667Pro)
n.5451A>C
9g.104798486G>ACA374314053ABCA1c.5056C>T (p.His1686Tyr)
c.5062C>T (p.His1688Tyr)
c.4882C>T (p.His1628Tyr)
c.5137C>T (p.His1713Tyr)
c.5131C>T (p.His1711Tyr)
c.4699C>T (p.His1567Tyr)
c.4999C>T (p.His1667Tyr)
n.5450C>T
9g.104798486G>CCA374314054ABCA1c.5056C>G (p.His1686Asp)
c.5062C>G (p.His1688Asp)
c.4882C>G (p.His1628Asp)
c.5137C>G (p.His1713Asp)
c.5131C>G (p.His1711Asp)
c.4699C>G (p.His1567Asp)
c.4999C>G (p.His1667Asp)
n.5450C>G
9g.104798486G>TCA374314052ABCA1c.5056C>A (p.His1686Asn)
c.5062C>A (p.His1688Asn)
c.4882C>A (p.His1628Asn)
c.5137C>A (p.His1713Asn)
c.5131C>A (p.His1711Asn)
c.4699C>A (p.His1567Asn)
c.4999C>A (p.His1667Asn)
n.5450C>A
9g.104798487T>ACA374314056ABCA1c.5055A>T (p.Lys1685Asn)
c.5061A>T (p.Lys1687Asn)
c.4881A>T (p.Lys1627Asn)
c.5136A>T (p.Lys1712Asn)
c.5130A>T (p.Lys1710Asn)
c.4698A>T (p.Lys1566Asn)
c.4998A>T (p.Lys1666Asn)
n.5449A>T
9g.104798487T>CCA466503124ABCA1c.5055A>G (p.Lys1685=)
c.5061A>G (p.Lys1687=)
c.4881A>G (p.Lys1627=)
c.5136A>G (p.Lys1712=)
c.5130A>G (p.Lys1710=)
c.4698A>G (p.Lys1566=)
c.4998A>G (p.Lys1666=)
n.5449A>G
9g.104798487T>GCA374314055ABCA1c.5055A>C (p.Lys1685Asn)
c.5061A>C (p.Lys1687Asn)
c.4881A>C (p.Lys1627Asn)
c.5136A>C (p.Lys1712Asn)
c.5130A>C (p.Lys1710Asn)
c.4698A>C (p.Lys1566Asn)
c.4998A>C (p.Lys1666Asn)
n.5449A>C
9g.104798488T>ACA374314057ABCA1c.5054A>T (p.Lys1685Ile)
c.5060A>T (p.Lys1687Ile)
c.4880A>T (p.Lys1627Ile)
c.5135A>T (p.Lys1712Ile)
c.5129A>T (p.Lys1710Ile)
c.4697A>T (p.Lys1566Ile)
c.4997A>T (p.Lys1666Ile)
n.5448A>T
9g.104798488T>CCA374314058ABCA1c.5054A>G (p.Lys1685Arg)
c.5060A>G (p.Lys1687Arg)
c.4880A>G (p.Lys1627Arg)
c.5135A>G (p.Lys1712Arg)
c.5129A>G (p.Lys1710Arg)
c.4697A>G (p.Lys1566Arg)
c.4997A>G (p.Lys1666Arg)
n.5448A>G
9g.104798488T>GCA374314059ABCA1c.5054A>C (p.Lys1685Thr)
c.5060A>C (p.Lys1687Thr)
c.4880A>C (p.Lys1627Thr)
c.5135A>C (p.Lys1712Thr)
c.5129A>C (p.Lys1710Thr)
c.4697A>C (p.Lys1566Thr)
c.4997A>C (p.Lys1666Thr)
n.5448A>C
9g.104798489T>ACA374314060ABCA1c.5053A>T (p.Lys1685Ter)
c.5059A>T (p.Lys1687Ter)
c.4879A>T (p.Lys1627Ter)
c.5134A>T (p.Lys1712Ter)
c.5128A>T (p.Lys1710Ter)
c.4696A>T (p.Lys1566Ter)
c.4996A>T (p.Lys1666Ter)
n.5447A>T
9g.104798489T>CCA374314061ABCA1c.5053A>G (p.Lys1685Glu)
c.5059A>G (p.Lys1687Glu)
c.4879A>G (p.Lys1627Glu)
c.5134A>G (p.Lys1712Glu)
c.5128A>G (p.Lys1710Glu)
c.4696A>G (p.Lys1566Glu)
c.4996A>G (p.Lys1666Glu)
n.5447A>G
 gnomAD v4
9g.104798489T>GCA374314062ABCA1c.5053A>C (p.Lys1685Gln)
c.5059A>C (p.Lys1687Gln)
c.4879A>C (p.Lys1627Gln)
c.5134A>C (p.Lys1712Gln)
c.5128A>C (p.Lys1710Gln)
c.4696A>C (p.Lys1566Gln)
c.4996A>C (p.Lys1666Gln)
n.5447A>C
9g.104798490T>ACA466503125ABCA1c.5052A>T (p.Ala1684=)
c.5058A>T (p.Ala1686=)
c.4878A>T (p.Ala1626=)
c.5133A>T (p.Ala1711=)
c.5127A>T (p.Ala1709=)
c.4695A>T (p.Ala1565=)
c.4995A>T (p.Ala1665=)
n.5446A>T
9g.104798490T>CCA466503126ABCA1c.5052A>G (p.Ala1684=)
c.5058A>G (p.Ala1686=)
c.4878A>G (p.Ala1626=)
c.5133A>G (p.Ala1711=)
c.5127A>G (p.Ala1709=)
c.4695A>G (p.Ala1565=)
c.4995A>G (p.Ala1665=)
n.5446A>G
9g.104798490T>GCA466503127ABCA1c.5052A>C (p.Ala1684=)
c.5058A>C (p.Ala1686=)
c.4878A>C (p.Ala1626=)
c.5133A>C (p.Ala1711=)
c.5127A>C (p.Ala1709=)
c.4695A>C (p.Ala1565=)
c.4995A>C (p.Ala1665=)
n.5446A>C
9g.104798491G>ACA374314064ABCA1c.5051C>T (p.Ala1684Val)
c.5057C>T (p.Ala1686Val)
c.4877C>T (p.Ala1626Val)
c.5132C>T (p.Ala1711Val)
c.5126C>T (p.Ala1709Val)
c.4694C>T (p.Ala1565Val)
c.4994C>T (p.Ala1665Val)
n.5445C>T
9g.104798491G>CCA5167952ABCA1c.5051C>G (p.Ala1684Gly)
c.5057C>G (p.Ala1686Gly)
c.4877C>G (p.Ala1626Gly)
c.5132C>G (p.Ala1711Gly)
c.5126C>G (p.Ala1709Gly)
c.4694C>G (p.Ala1565Gly)
c.4994C>G (p.Ala1665Gly)
n.5445C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798491G=CA1869915914ABCA1c.5051C= (p.Ala1684=)
c.5057C= (p.Ala1686=)
c.4877C= (p.Ala1626=)
c.5132C= (p.Ala1711=)
c.5126C= (p.Ala1709=)
c.4694C= (p.Ala1565=)
c.4994C= (p.Ala1665=)
n.5445C=
9g.104798491G>TCA374314063ABCA1c.5051C>A (p.Ala1684Glu)
c.5057C>A (p.Ala1686Glu)
c.4877C>A (p.Ala1626Glu)
c.5132C>A (p.Ala1711Glu)
c.5126C>A (p.Ala1709Glu)
c.4694C>A (p.Ala1565Glu)
c.4994C>A (p.Ala1665Glu)
n.5445C>A
9g.104798492C>ACA374314065ABCA1c.5050G>T (p.Ala1684Ser)
c.5056G>T (p.Ala1686Ser)
c.4876G>T (p.Ala1626Ser)
c.5131G>T (p.Ala1711Ser)
c.5125G>T (p.Ala1709Ser)
c.4693G>T (p.Ala1565Ser)
c.4993G>T (p.Ala1665Ser)
n.5444G>T
9g.104798492C>GCA374314066ABCA1c.5050G>C (p.Ala1684Pro)
c.5056G>C (p.Ala1686Pro)
c.4876G>C (p.Ala1626Pro)
c.5131G>C (p.Ala1711Pro)
c.5125G>C (p.Ala1709Pro)
c.4693G>C (p.Ala1565Pro)
c.4993G>C (p.Ala1665Pro)
n.5444G>C
9g.104798492C>TCA374314067ABCA1c.5050G>A (p.Ala1684Thr)
c.5056G>A (p.Ala1686Thr)
c.4876G>A (p.Ala1626Thr)
c.5131G>A (p.Ala1711Thr)
c.5125G>A (p.Ala1709Thr)
c.4693G>A (p.Ala1565Thr)
c.4993G>A (p.Ala1665Thr)
n.5444G>A
 gnomAD v4
9g.104798493T>ACA374314068ABCA1c.5049A>T (p.Lys1683Asn)
c.5055A>T (p.Lys1685Asn)
c.4875A>T (p.Lys1625Asn)
c.5130A>T (p.Lys1710Asn)
c.5124A>T (p.Lys1708Asn)
c.4692A>T (p.Lys1564Asn)
c.4992A>T (p.Lys1664Asn)
n.5443A>T
9g.104798493T>CCA466503128ABCA1c.5049A>G (p.Lys1683=)
c.5055A>G (p.Lys1685=)
c.4875A>G (p.Lys1625=)
c.5130A>G (p.Lys1710=)
c.5124A>G (p.Lys1708=)
c.4692A>G (p.Lys1564=)
c.4992A>G (p.Lys1664=)
n.5443A>G
9g.104798493T>GCA374314069ABCA1c.5049A>C (p.Lys1683Asn)
c.5055A>C (p.Lys1685Asn)
c.4875A>C (p.Lys1625Asn)
c.5130A>C (p.Lys1710Asn)
c.5124A>C (p.Lys1708Asn)
c.4692A>C (p.Lys1564Asn)
c.4992A>C (p.Lys1664Asn)
n.5443A>C
9g.104798494T>ACA374314070ABCA1c.5048A>T (p.Lys1683Ile)
c.5054A>T (p.Lys1685Ile)
c.4874A>T (p.Lys1625Ile)
c.5129A>T (p.Lys1710Ile)
c.5123A>T (p.Lys1708Ile)
c.4691A>T (p.Lys1564Ile)
c.4991A>T (p.Lys1664Ile)
n.5442A>T
9g.104798494T>CCA374314072ABCA1c.5048A>G (p.Lys1683Arg)
c.5054A>G (p.Lys1685Arg)
c.4874A>G (p.Lys1625Arg)
c.5129A>G (p.Lys1710Arg)
c.5123A>G (p.Lys1708Arg)
c.4691A>G (p.Lys1564Arg)
c.4991A>G (p.Lys1664Arg)
n.5442A>G
9g.104798494T>GCA374314071ABCA1c.5048A>C (p.Lys1683Thr)
c.5054A>C (p.Lys1685Thr)
c.4874A>C (p.Lys1625Thr)
c.5129A>C (p.Lys1710Thr)
c.5123A>C (p.Lys1708Thr)
c.4691A>C (p.Lys1564Thr)
c.4991A>C (p.Lys1664Thr)
n.5442A>C
9g.104798495T>ACA374314073ABCA1c.5047A>T (p.Lys1683Ter)
c.5053A>T (p.Lys1685Ter)
c.4873A>T (p.Lys1625Ter)
c.5128A>T (p.Lys1710Ter)
c.5122A>T (p.Lys1708Ter)
c.4690A>T (p.Lys1564Ter)
c.4990A>T (p.Lys1664Ter)
n.5441A>T
9g.104798495T>CCA5167953ABCA1c.5047A>G (p.Lys1683Glu)
c.5053A>G (p.Lys1685Glu)
c.4873A>G (p.Lys1625Glu)
c.5128A>G (p.Lys1710Glu)
c.5122A>G (p.Lys1708Glu)
c.4690A>G (p.Lys1564Glu)
c.4990A>G (p.Lys1664Glu)
n.5441A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798495T>GCA374314074ABCA1c.5047A>C (p.Lys1683Gln)
c.5053A>C (p.Lys1685Gln)
c.4873A>C (p.Lys1625Gln)
c.5128A>C (p.Lys1710Gln)
c.5122A>C (p.Lys1708Gln)
c.4690A>C (p.Lys1564Gln)
c.4990A>C (p.Lys1664Gln)
n.5441A>C
9g.104798495T=CA1869915925ABCA1c.5047A= (p.Lys1683=)
c.5053A= (p.Lys1685=)
c.4873A= (p.Lys1625=)
c.5128A= (p.Lys1710=)
c.5122A= (p.Lys1708=)
c.4690A= (p.Lys1564=)
c.4990A= (p.Lys1664=)
n.5441A=
9g.104798496G>ACA466503129ABCA1c.5046C>T (p.Ser1682=)
c.5052C>T (p.Ser1684=)
c.4872C>T (p.Ser1624=)
c.5127C>T (p.Ser1709=)
c.5121C>T (p.Ser1707=)
c.4689C>T (p.Ser1563=)
c.4989C>T (p.Ser1663=)
n.5440C>T
9g.104798496G>CCA374314075ABCA1c.5046C>G (p.Ser1682Arg)
c.5052C>G (p.Ser1684Arg)
c.4872C>G (p.Ser1624Arg)
c.5127C>G (p.Ser1709Arg)
c.5121C>G (p.Ser1707Arg)
c.4689C>G (p.Ser1563Arg)
c.4989C>G (p.Ser1663Arg)
n.5440C>G
9g.104798496G=CA1869915938ABCA1c.5046C= (p.Ser1682=)
c.5052C= (p.Ser1684=)
c.4872C= (p.Ser1624=)
c.5127C= (p.Ser1709=)
c.5121C= (p.Ser1707=)
c.4689C= (p.Ser1563=)
c.4989C= (p.Ser1663=)
n.5440C=
9g.104798496G>TCA197361844ABCA1c.5046C>A (p.Ser1682Arg)
c.5052C>A (p.Ser1684Arg)
c.4872C>A (p.Ser1624Arg)
c.5127C>A (p.Ser1709Arg)
c.5121C>A (p.Ser1707Arg)
c.4689C>A (p.Ser1563Arg)
c.4989C>A (p.Ser1663Arg)
n.5440C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104798497C>ACA374314076ABCA1c.5045G>T (p.Ser1682Ile)
c.5051G>T (p.Ser1684Ile)
c.4871G>T (p.Ser1624Ile)
c.5126G>T (p.Ser1709Ile)
c.5120G>T (p.Ser1707Ile)
c.4688G>T (p.Ser1563Ile)
c.4988G>T (p.Ser1663Ile)
n.5439G>T
9g.104798497C>GCA374314077ABCA1c.5045G>C (p.Ser1682Thr)
c.5051G>C (p.Ser1684Thr)
c.4871G>C (p.Ser1624Thr)
c.5126G>C (p.Ser1709Thr)
c.5120G>C (p.Ser1707Thr)
c.4688G>C (p.Ser1563Thr)
c.4988G>C (p.Ser1663Thr)
n.5439G>C
 gnomAD v4
9g.104798497C>TCA374314078ABCA1c.5045G>A (p.Ser1682Asn)
c.5051G>A (p.Ser1684Asn)
c.4871G>A (p.Ser1624Asn)
c.5126G>A (p.Ser1709Asn)
c.5120G>A (p.Ser1707Asn)
c.4688G>A (p.Ser1563Asn)
c.4988G>A (p.Ser1663Asn)
n.5439G>A
9g.104798498T>ACA374314079ABCA1c.5044A>T (p.Ser1682Cys)
c.5050A>T (p.Ser1684Cys)
c.4870A>T (p.Ser1624Cys)
c.5125A>T (p.Ser1709Cys)
c.5119A>T (p.Ser1707Cys)
c.4687A>T (p.Ser1563Cys)
c.4987A>T (p.Ser1663Cys)
n.5438A>T
9g.104798498T>CCA374314080ABCA1c.5044A>G (p.Ser1682Gly)
c.5050A>G (p.Ser1684Gly)
c.4870A>G (p.Ser1624Gly)
c.5125A>G (p.Ser1709Gly)
c.5119A>G (p.Ser1707Gly)
c.4687A>G (p.Ser1563Gly)
c.4987A>G (p.Ser1663Gly)
n.5438A>G
9g.104798498T>GCA374314081ABCA1c.5044A>C (p.Ser1682Arg)
c.5050A>C (p.Ser1684Arg)
c.4870A>C (p.Ser1624Arg)
c.5125A>C (p.Ser1709Arg)
c.5119A>C (p.Ser1707Arg)
c.4687A>C (p.Ser1563Arg)
c.4987A>C (p.Ser1663Arg)
n.5438A>C
 ClinVar dbSNP gnomAD v4
9g.104798499G>ACA466503130ABCA1c.5043C>T (p.Val1681=)
c.5049C>T (p.Val1683=)
c.4869C>T (p.Val1623=)
c.5124C>T (p.Val1708=)
c.5118C>T (p.Val1706=)
c.4686C>T (p.Val1562=)
c.4986C>T (p.Val1662=)
n.5437C>T
9g.104798499G>CCA466503131ABCA1c.5043C>G (p.Val1681=)
c.5049C>G (p.Val1683=)
c.4869C>G (p.Val1623=)
c.5124C>G (p.Val1708=)
c.5118C>G (p.Val1706=)
c.4686C>G (p.Val1562=)
c.4986C>G (p.Val1662=)
n.5437C>G
9g.104798499G>TCA466503132ABCA1c.5043C>A (p.Val1681=)
c.5049C>A (p.Val1683=)
c.4869C>A (p.Val1623=)
c.5124C>A (p.Val1708=)
c.5118C>A (p.Val1706=)
c.4686C>A (p.Val1562=)
c.4986C>A (p.Val1662=)
n.5437C>A
9g.104798500A=CA1869915974ABCA1c.5042T= (p.Val1681=)
c.5048T= (p.Val1683=)
c.4868T= (p.Val1623=)
c.5123T= (p.Val1708=)
c.5117T= (p.Val1706=)
c.4685T= (p.Val1562=)
c.4985T= (p.Val1662=)
n.5436T=
9g.104798500A>CCA374314082ABCA1c.5042T>G (p.Val1681Gly)
c.5048T>G (p.Val1683Gly)
c.4868T>G (p.Val1623Gly)
c.5123T>G (p.Val1708Gly)
c.5117T>G (p.Val1706Gly)
c.4685T>G (p.Val1562Gly)
c.4985T>G (p.Val1662Gly)
n.5436T>G
 dbSNP gnomAD v4
9g.104798500A>GCA374314084ABCA1c.5042T>C (p.Val1681Ala)
c.5048T>C (p.Val1683Ala)
c.4868T>C (p.Val1623Ala)
c.5123T>C (p.Val1708Ala)
c.5117T>C (p.Val1706Ala)
c.4685T>C (p.Val1562Ala)
c.4985T>C (p.Val1662Ala)
n.5436T>C
9g.104798500A>TCA374314083ABCA1c.5042T>A (p.Val1681Asp)
c.5048T>A (p.Val1683Asp)
c.4868T>A (p.Val1623Asp)
c.5123T>A (p.Val1708Asp)
c.5117T>A (p.Val1706Asp)
c.4685T>A (p.Val1562Asp)
c.4985T>A (p.Val1662Asp)
n.5436T>A
9g.104798501C>ACA374314085ABCA1c.5041G>T (p.Val1681Phe)
c.5047G>T (p.Val1683Phe)
c.4867G>T (p.Val1623Phe)
c.5122G>T (p.Val1708Phe)
c.5116G>T (p.Val1706Phe)
c.4684G>T (p.Val1562Phe)
c.4984G>T (p.Val1662Phe)
n.5435G>T
9g.104798501C>GCA374314086ABCA1c.5041G>C (p.Val1681Leu)
c.5047G>C (p.Val1683Leu)
c.4867G>C (p.Val1623Leu)
c.5122G>C (p.Val1708Leu)
c.5116G>C (p.Val1706Leu)
c.4684G>C (p.Val1562Leu)
c.4984G>C (p.Val1662Leu)
n.5435G>C
9g.104798501C>TCA374314087ABCA1c.5041G>A (p.Val1681Ile)
c.5047G>A (p.Val1683Ile)
c.4867G>A (p.Val1623Ile)
c.5122G>A (p.Val1708Ile)
c.5116G>A (p.Val1706Ile)
c.4684G>A (p.Val1562Ile)
c.4984G>A (p.Val1662Ile)
n.5435G>A
 gnomAD v4
9g.104798502C>ACA466503134ABCA1c.5040G>T (p.Arg1680=)
c.5046G>T (p.Arg1682=)
c.4866G>T (p.Arg1622=)
c.5121G>T (p.Arg1707=)
c.5115G>T (p.Arg1705=)
c.4683G>T (p.Arg1561=)
c.4983G>T (p.Arg1661=)
n.5434G>T
9g.104798502C>GCA466503135ABCA1c.5040G>C (p.Arg1680=)
c.5046G>C (p.Arg1682=)
c.4866G>C (p.Arg1622=)
c.5121G>C (p.Arg1707=)
c.5115G>C (p.Arg1705=)
c.4683G>C (p.Arg1561=)
c.4983G>C (p.Arg1661=)
n.5434G>C
9g.104798502C>TCA466503136ABCA1c.5040G>A (p.Arg1680=)
c.5046G>A (p.Arg1682=)
c.4866G>A (p.Arg1622=)
c.5121G>A (p.Arg1707=)
c.5115G>A (p.Arg1705=)
c.4683G>A (p.Arg1561=)
c.4983G>A (p.Arg1661=)
n.5434G>A
9g.104798503C>ACA374314088ABCA1c.5039G>T (p.Arg1680Leu)
c.5045G>T (p.Arg1682Leu)
c.4865G>T (p.Arg1622Leu)
c.5120G>T (p.Arg1707Leu)
c.5114G>T (p.Arg1705Leu)
c.4682G>T (p.Arg1561Leu)
c.4982G>T (p.Arg1661Leu)
n.5433G>T
 dbSNP
9g.104798503C=CA1869915987ABCA1c.5039G= (p.Arg1680=)
c.5045G= (p.Arg1682=)
c.4865G= (p.Arg1622=)
c.5120G= (p.Arg1707=)
c.5114G= (p.Arg1705=)
c.4682G= (p.Arg1561=)
c.4982G= (p.Arg1661=)
n.5433G=
9g.104798503C>GCA374314089ABCA1c.5039G>C (p.Arg1680Pro)
c.5045G>C (p.Arg1682Pro)
c.4865G>C (p.Arg1622Pro)
c.5120G>C (p.Arg1707Pro)
c.5114G>C (p.Arg1705Pro)
c.4682G>C (p.Arg1561Pro)
c.4982G>C (p.Arg1661Pro)
n.5433G>C
 gnomAD v4
9g.104798503C>TCA5167954ABCA1c.5039G>A (p.Arg1680Gln)
c.5045G>A (p.Arg1682Gln)
c.4865G>A (p.Arg1622Gln)
c.5120G>A (p.Arg1707Gln)
c.5114G>A (p.Arg1705Gln)
c.4682G>A (p.Arg1561Gln)
c.4982G>A (p.Arg1661Gln)
n.5433G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798504G>ACA120488ABCA1c.5038C>T (p.Arg1680Trp)
c.5044C>T (p.Arg1682Trp)
c.4864C>T (p.Arg1622Trp)
c.5119C>T (p.Arg1707Trp)
c.5113C>T (p.Arg1705Trp)
c.4681C>T (p.Arg1561Trp)
c.4981C>T (p.Arg1661Trp)
n.5432C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104798504G>CCA374314090ABCA1c.5038C>G (p.Arg1680Gly)
c.5044C>G (p.Arg1682Gly)
c.4864C>G (p.Arg1622Gly)
c.5119C>G (p.Arg1707Gly)
c.5113C>G (p.Arg1705Gly)
c.4681C>G (p.Arg1561Gly)
c.4981C>G (p.Arg1661Gly)
n.5432C>G
9g.104798504G=CA1869915999ABCA1c.5038C= (p.Arg1680=)
c.5044C= (p.Arg1682=)
c.4864C= (p.Arg1622=)
c.5119C= (p.Arg1707=)
c.5113C= (p.Arg1705=)
c.4681C= (p.Arg1561=)
c.4981C= (p.Arg1661=)
n.5432C=
9g.104798504G>TCA5167955ABCA1c.5038C>A (p.Arg1680=)
c.5044C>A (p.Arg1682=)
c.4864C>A (p.Arg1622=)
c.5119C>A (p.Arg1707=)
c.5113C>A (p.Arg1705=)
c.4681C>A (p.Arg1561=)
c.4981C>A (p.Arg1661=)
n.5432C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104798505C>ACA374314091ABCA1c.5037G>T (p.Glu1679Asp)
c.5043G>T (p.Glu1681Asp)
c.4863G>T (p.Glu1621Asp)
c.5118G>T (p.Glu1706Asp)
c.5112G>T (p.Glu1704Asp)
c.4680G>T (p.Glu1560Asp)
c.4980G>T (p.Glu1660Asp)
n.5431G>T
9g.104798505C>GCA374314092ABCA1c.5037G>C (p.Glu1679Asp)
c.5043G>C (p.Glu1681Asp)
c.4863G>C (p.Glu1621Asp)
c.5118G>C (p.Glu1706Asp)
c.5112G>C (p.Glu1704Asp)
c.4680G>C (p.Glu1560Asp)
c.4980G>C (p.Glu1660Asp)
n.5431G>C
9g.104798505C>TCA466503137ABCA1c.5037G>A (p.Glu1679=)
c.5043G>A (p.Glu1681=)
c.4863G>A (p.Glu1621=)
c.5118G>A (p.Glu1706=)
c.5112G>A (p.Glu1704=)
c.4680G>A (p.Glu1560=)
c.4980G>A (p.Glu1660=)
n.5431G>A
 ClinVar
9g.104798506T>ACA374314095ABCA1c.5036A>T (p.Glu1679Val)
c.5042A>T (p.Glu1681Val)
c.4862A>T (p.Glu1621Val)
c.5117A>T (p.Glu1706Val)
c.5111A>T (p.Glu1704Val)
c.4679A>T (p.Glu1560Val)
c.4979A>T (p.Glu1660Val)
n.5430A>T
9g.104798506T>CCA374314094ABCA1c.5036A>G (p.Glu1679Gly)
c.5042A>G (p.Glu1681Gly)
c.4862A>G (p.Glu1621Gly)
c.5117A>G (p.Glu1706Gly)
c.5111A>G (p.Glu1704Gly)
c.4679A>G (p.Glu1560Gly)
c.4979A>G (p.Glu1660Gly)
n.5430A>G
9g.104798506T>GCA374314093ABCA1c.5036A>C (p.Glu1679Ala)
c.5042A>C (p.Glu1681Ala)
c.4862A>C (p.Glu1621Ala)
c.5117A>C (p.Glu1706Ala)
c.5111A>C (p.Glu1704Ala)
c.4679A>C (p.Glu1560Ala)
c.4979A>C (p.Glu1660Ala)
n.5430A>C
9g.104798507C>ACA374314096ABCA1c.5035G>T (p.Glu1679Ter)
c.5041G>T (p.Glu1681Ter)
c.4861G>T (p.Glu1621Ter)
c.5116G>T (p.Glu1706Ter)
c.5110G>T (p.Glu1704Ter)
c.4678G>T (p.Glu1560Ter)
c.4978G>T (p.Glu1660Ter)
n.5429G>T
9g.104798507C>GCA374314097ABCA1c.5035G>C (p.Glu1679Gln)
c.5041G>C (p.Glu1681Gln)
c.4861G>C (p.Glu1621Gln)
c.5116G>C (p.Glu1706Gln)
c.5110G>C (p.Glu1704Gln)
c.4678G>C (p.Glu1560Gln)
c.4978G>C (p.Glu1660Gln)
n.5429G>C
9g.104798507C>TCA374314098ABCA1c.5035G>A (p.Glu1679Lys)
c.5041G>A (p.Glu1681Lys)
c.4861G>A (p.Glu1621Lys)
c.5116G>A (p.Glu1706Lys)
c.5110G>A (p.Glu1704Lys)
c.4678G>A (p.Glu1560Lys)
c.4978G>A (p.Glu1660Lys)
n.5429G>A
9g.104798508C>ACA374314099ABCA1c.5034G>T (p.Gln1678His)
c.5040G>T (p.Gln1680His)
c.4860G>T (p.Gln1620His)
c.5115G>T (p.Gln1705His)
c.5109G>T (p.Gln1703His)
c.4677G>T (p.Gln1559His)
c.4977G>T (p.Gln1659His)
n.5428G>T
9g.104798508C=CA1869916017ABCA1c.5034G= (p.Gln1678=)
c.5040G= (p.Gln1680=)
c.4860G= (p.Gln1620=)
c.5115G= (p.Gln1705=)
c.5109G= (p.Gln1703=)
c.4677G= (p.Gln1559=)
c.4977G= (p.Gln1659=)
n.5428G=
9g.104798508C>GCA374314100ABCA1c.5034G>C (p.Gln1678His)
c.5040G>C (p.Gln1680His)
c.4860G>C (p.Gln1620His)
c.5115G>C (p.Gln1705His)
c.5109G>C (p.Gln1703His)
c.4677G>C (p.Gln1559His)
c.4977G>C (p.Gln1659His)
n.5428G>C
9g.104798508C>TCA5167956ABCA1c.5034G>A (p.Gln1678=)
c.5040G>A (p.Gln1680=)
c.4860G>A (p.Gln1620=)
c.5115G>A (p.Gln1705=)
c.5109G>A (p.Gln1703=)
c.4677G>A (p.Gln1559=)
c.4977G>A (p.Gln1659=)
n.5428G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104798509T>ACA374314101ABCA1c.5033A>T (p.Gln1678Leu)
c.5039A>T (p.Gln1680Leu)
c.4859A>T (p.Gln1620Leu)
c.5114A>T (p.Gln1705Leu)
c.5108A>T (p.Gln1703Leu)
c.4676A>T (p.Gln1559Leu)
c.4976A>T (p.Gln1659Leu)
n.5427A>T
9g.104798509T>CCA374314102ABCA1c.5033A>G (p.Gln1678Arg)
c.5039A>G (p.Gln1680Arg)
c.4859A>G (p.Gln1620Arg)
c.5114A>G (p.Gln1705Arg)
c.5108A>G (p.Gln1703Arg)
c.4676A>G (p.Gln1559Arg)
c.4976A>G (p.Gln1659Arg)
n.5427A>G
9g.104798509T>GCA374314103ABCA1c.5033A>C (p.Gln1678Pro)
c.5039A>C (p.Gln1680Pro)
c.4859A>C (p.Gln1620Pro)
c.5114A>C (p.Gln1705Pro)
c.5108A>C (p.Gln1703Pro)
c.4676A>C (p.Gln1559Pro)
c.4976A>C (p.Gln1659Pro)
n.5427A>C
9g.104798510G>ACA374314104ABCA1c.5032C>T (p.Gln1678Ter)
c.5038C>T (p.Gln1680Ter)
c.4858C>T (p.Gln1620Ter)
c.5113C>T (p.Gln1705Ter)
c.5107C>T (p.Gln1703Ter)
c.4675C>T (p.Gln1559Ter)
c.4975C>T (p.Gln1659Ter)
n.5426C>T
9g.104798510G>CCA374314105ABCA1c.5032C>G (p.Gln1678Glu)
c.5038C>G (p.Gln1680Glu)
c.4858C>G (p.Gln1620Glu)
c.5113C>G (p.Gln1705Glu)
c.5107C>G (p.Gln1703Glu)
c.4675C>G (p.Gln1559Glu)
c.4975C>G (p.Gln1659Glu)
n.5426C>G
9g.104798510G>TCA374314106ABCA1c.5032C>A (p.Gln1678Lys)
c.5038C>A (p.Gln1680Lys)
c.4858C>A (p.Gln1620Lys)
c.5113C>A (p.Gln1705Lys)
c.5107C>A (p.Gln1703Lys)
c.4675C>A (p.Gln1559Lys)
c.4975C>A (p.Gln1659Lys)
n.5426C>A
9g.104798511G>ACA466503139ABCA1c.5031C>T (p.Ile1677=)
c.5037C>T (p.Ile1679=)
c.4857C>T (p.Ile1619=)
c.5112C>T (p.Ile1704=)
c.5106C>T (p.Ile1702=)
c.4674C>T (p.Ile1558=)
c.4974C>T (p.Ile1658=)
n.5425C>T
 gnomAD v4
9g.104798511G>CCA374314107ABCA1c.5031C>G (p.Ile1677Met)
c.5037C>G (p.Ile1679Met)
c.4857C>G (p.Ile1619Met)
c.5112C>G (p.Ile1704Met)
c.5106C>G (p.Ile1702Met)
c.4674C>G (p.Ile1558Met)
c.4974C>G (p.Ile1658Met)
n.5425C>G
9g.104798511G>TCA466503140ABCA1c.5031C>A (p.Ile1677=)
c.5037C>A (p.Ile1679=)
c.4857C>A (p.Ile1619=)
c.5112C>A (p.Ile1704=)
c.5106C>A (p.Ile1702=)
c.4674C>A (p.Ile1558=)
c.4974C>A (p.Ile1658=)
n.5425C>A
9g.104798512A>CCA374314109ABCA1c.5030T>G (p.Ile1677Ser)
c.5036T>G (p.Ile1679Ser)
c.4856T>G (p.Ile1619Ser)
c.5111T>G (p.Ile1704Ser)
c.5105T>G (p.Ile1702Ser)
c.4673T>G (p.Ile1558Ser)
c.4973T>G (p.Ile1658Ser)
n.5424T>G
9g.104798512A>GCA374314110ABCA1c.5030T>C (p.Ile1677Thr)
c.5036T>C (p.Ile1679Thr)
c.4856T>C (p.Ile1619Thr)
c.5111T>C (p.Ile1704Thr)
c.5105T>C (p.Ile1702Thr)
c.4673T>C (p.Ile1558Thr)
c.4973T>C (p.Ile1658Thr)
n.5424T>C
 gnomAD v4
9g.104798512A>TCA374314108ABCA1c.5030T>A (p.Ile1677Asn)
c.5036T>A (p.Ile1679Asn)
c.4856T>A (p.Ile1619Asn)
c.5111T>A (p.Ile1704Asn)
c.5105T>A (p.Ile1702Asn)
c.4673T>A (p.Ile1558Asn)
c.4973T>A (p.Ile1658Asn)
n.5424T>A
9g.104798513T>ACA374314113ABCA1c.5029A>T (p.Ile1677Phe)
c.5035A>T (p.Ile1679Phe)
c.4855A>T (p.Ile1619Phe)
c.5110A>T (p.Ile1704Phe)
c.5104A>T (p.Ile1702Phe)
c.4672A>T (p.Ile1558Phe)
c.4972A>T (p.Ile1658Phe)
n.5423A>T
9g.104798513T>CCA374314111ABCA1c.5029A>G (p.Ile1677Val)
c.5035A>G (p.Ile1679Val)
c.4855A>G (p.Ile1619Val)
c.5110A>G (p.Ile1704Val)
c.5104A>G (p.Ile1702Val)
c.4672A>G (p.Ile1558Val)
c.4972A>G (p.Ile1658Val)
n.5423A>G
9g.104798513T>GCA374314112ABCA1c.5029A>C (p.Ile1677Leu)
c.5035A>C (p.Ile1679Leu)
c.4855A>C (p.Ile1619Leu)
c.5110A>C (p.Ile1704Leu)
c.5104A>C (p.Ile1702Leu)
c.4672A>C (p.Ile1558Leu)
c.4972A>C (p.Ile1658Leu)
n.5423A>C
9g.104798514C>ACA466503141ABCA1c.5028G>T (p.Leu1676=)
c.5034G>T (p.Leu1678=)
c.4854G>T (p.Leu1618=)
c.5109G>T (p.Leu1703=)
c.5103G>T (p.Leu1701=)
c.4671G>T (p.Leu1557=)
c.4971G>T (p.Leu1657=)
n.5422G>T
9g.104798514C>GCA466503143ABCA1c.5028G>C (p.Leu1676=)
c.5034G>C (p.Leu1678=)
c.4854G>C (p.Leu1618=)
c.5109G>C (p.Leu1703=)
c.5103G>C (p.Leu1701=)
c.4671G>C (p.Leu1557=)
c.4971G>C (p.Leu1657=)
n.5422G>C
 COSMIC
9g.104798514C>TCA466503142ABCA1c.5028G>A (p.Leu1676=)
c.5034G>A (p.Leu1678=)
c.4854G>A (p.Leu1618=)
c.5109G>A (p.Leu1703=)
c.5103G>A (p.Leu1701=)
c.4671G>A (p.Leu1557=)
c.4971G>A (p.Leu1657=)
n.5422G>A
 ClinVar gnomAD v4
9g.104798515A>CCA374314114ABCA1c.5027T>G (p.Leu1676Arg)
c.5033T>G (p.Leu1678Arg)
c.4853T>G (p.Leu1618Arg)
c.5108T>G (p.Leu1703Arg)
c.5102T>G (p.Leu1701Arg)
c.4670T>G (p.Leu1557Arg)
c.4970T>G (p.Leu1657Arg)
n.5421T>G
9g.104798515A>GCA374314115ABCA1c.5027T>C (p.Leu1676Pro)
c.5033T>C (p.Leu1678Pro)
c.4853T>C (p.Leu1618Pro)
c.5108T>C (p.Leu1703Pro)
c.5102T>C (p.Leu1701Pro)
c.4670T>C (p.Leu1557Pro)
c.4970T>C (p.Leu1657Pro)
n.5421T>C
9g.104798515A>TCA374314116ABCA1c.5027T>A (p.Leu1676Gln)
c.5033T>A (p.Leu1678Gln)
c.4853T>A (p.Leu1618Gln)
c.5108T>A (p.Leu1703Gln)
c.5102T>A (p.Leu1701Gln)
c.4670T>A (p.Leu1557Gln)
c.4970T>A (p.Leu1657Gln)
n.5421T>A
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
 ClinVar
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

Number of alleles fetched