Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104829023T>ACA374322240ABCA1c.2008A>T (p.Thr670Ser)
n.181A>T
c.1828A>T (p.Thr610Ser)
c.2083A>T (p.Thr695Ser)
c.1645A>T (p.Thr549Ser)
c.1945A>T (p.Thr649Ser)
n.2396A>T
9g.104829023T>CCA374322239ABCA1c.2008A>G (p.Thr670Ala)
n.181A>G
c.1828A>G (p.Thr610Ala)
c.2083A>G (p.Thr695Ala)
c.1645A>G (p.Thr549Ala)
c.1945A>G (p.Thr649Ala)
n.2396A>G
 gnomAD v4
9g.104829023T>GCA374322238ABCA1c.2008A>C (p.Thr670Pro)
n.181A>C
c.1828A>C (p.Thr610Pro)
c.2083A>C (p.Thr695Pro)
c.1645A>C (p.Thr549Pro)
c.1945A>C (p.Thr649Pro)
n.2396A>C
9g.104829024C>ACA374322241ABCA1c.2007G>T (p.Glu669Asp)
n.180G>T
c.1827G>T (p.Glu609Asp)
c.2082G>T (p.Glu694Asp)
c.1644G>T (p.Glu548Asp)
c.1944G>T (p.Glu648Asp)
n.2395G>T
9g.104829024C>GCA374322242ABCA1c.2007G>C (p.Glu669Asp)
n.180G>C
c.1827G>C (p.Glu609Asp)
c.2082G>C (p.Glu694Asp)
c.1644G>C (p.Glu548Asp)
c.1944G>C (p.Glu648Asp)
n.2395G>C
9g.104829024C>TCA466510458ABCA1c.2007G>A (p.Glu669=)
n.180G>A
c.1827G>A (p.Glu609=)
c.2082G>A (p.Glu694=)
c.1644G>A (p.Glu548=)
c.1944G>A (p.Glu648=)
n.2395G>A
9g.104829025T>ACA374322243ABCA1c.2006A>T (p.Glu669Val)
n.179A>T
c.1826A>T (p.Glu609Val)
c.2081A>T (p.Glu694Val)
c.1643A>T (p.Glu548Val)
c.1943A>T (p.Glu648Val)
n.2394A>T
9g.104829025T>CCA374322244ABCA1c.2006A>G (p.Glu669Gly)
n.179A>G
c.1826A>G (p.Glu609Gly)
c.2081A>G (p.Glu694Gly)
c.1643A>G (p.Glu548Gly)
c.1943A>G (p.Glu648Gly)
n.2394A>G
9g.104829025T>GCA374322245ABCA1c.2006A>C (p.Glu669Ala)
n.179A>C
c.1826A>C (p.Glu609Ala)
c.2081A>C (p.Glu694Ala)
c.1643A>C (p.Glu548Ala)
c.1943A>C (p.Glu648Ala)
n.2394A>C
9g.104829026C>ACA374322246ABCA1c.2005G>T (p.Glu669Ter)
n.178G>T
c.1825G>T (p.Glu609Ter)
c.2080G>T (p.Glu694Ter)
c.1642G>T (p.Glu548Ter)
c.1942G>T (p.Glu648Ter)
n.2393G>T
9g.104829026C=CA1869920227ABCA1c.2005G= (p.Glu669=)
n.178G=
c.1825G= (p.Glu609=)
c.2080G= (p.Glu694=)
c.1642G= (p.Glu548=)
c.1942G= (p.Glu648=)
n.2393G=
9g.104829026C>GCA374322247ABCA1c.2005G>C (p.Glu669Gln)
n.178G>C
c.1825G>C (p.Glu609Gln)
c.2080G>C (p.Glu694Gln)
c.1642G>C (p.Glu548Gln)
c.1942G>C (p.Glu648Gln)
n.2393G>C
 ClinVar dbSNP gnomAD v2
9g.104829026C>TCA374322248ABCA1c.2005G>A (p.Glu669Lys)
n.178G>A
c.1825G>A (p.Glu609Lys)
c.2080G>A (p.Glu694Lys)
c.1642G>A (p.Glu548Lys)
c.1942G>A (p.Glu648Lys)
n.2393G>A
9g.104829027T>ACA374322249ABCA1c.2004A>T (p.Lys668Asn)
n.177A>T
c.1824A>T (p.Lys608Asn)
c.2079A>T (p.Lys693Asn)
c.1641A>T (p.Lys547Asn)
c.1941A>T (p.Lys647Asn)
n.2392A>T
9g.104829027T>CCA466510470ABCA1c.2004A>G (p.Lys668=)
n.177A>G
c.1824A>G (p.Lys608=)
c.2079A>G (p.Lys693=)
c.1641A>G (p.Lys547=)
c.1941A>G (p.Lys647=)
n.2392A>G
9g.104829027T>GCA374322250ABCA1c.2004A>C (p.Lys668Asn)
n.177A>C
c.1824A>C (p.Lys608Asn)
c.2079A>C (p.Lys693Asn)
c.1641A>C (p.Lys547Asn)
c.1941A>C (p.Lys647Asn)
n.2392A>C
9g.104829028T>ACA374322251ABCA1c.2003A>T (p.Lys668Ile)
n.176A>T
c.1823A>T (p.Lys608Ile)
c.2078A>T (p.Lys693Ile)
c.1640A>T (p.Lys547Ile)
c.1940A>T (p.Lys647Ile)
n.2391A>T
9g.104829028T>CCA374322252ABCA1c.2003A>G (p.Lys668Arg)
n.176A>G
c.1823A>G (p.Lys608Arg)
c.2078A>G (p.Lys693Arg)
c.1640A>G (p.Lys547Arg)
c.1940A>G (p.Lys647Arg)
n.2391A>G
9g.104829028T>GCA374322253ABCA1c.2003A>C (p.Lys668Thr)
n.176A>C
c.1823A>C (p.Lys608Thr)
c.2078A>C (p.Lys693Thr)
c.1640A>C (p.Lys547Thr)
c.1940A>C (p.Lys647Thr)
n.2391A>C
9g.104829029T>ACA374322256ABCA1c.2002A>T (p.Lys668Ter)
n.175A>T
c.1822A>T (p.Lys608Ter)
c.2077A>T (p.Lys693Ter)
c.1639A>T (p.Lys547Ter)
c.1939A>T (p.Lys647Ter)
n.2390A>T
9g.104829029T>CCA374322255ABCA1c.2002A>G (p.Lys668Glu)
n.175A>G
c.1822A>G (p.Lys608Glu)
c.2077A>G (p.Lys693Glu)
c.1639A>G (p.Lys547Glu)
c.1939A>G (p.Lys647Glu)
n.2390A>G
9g.104829029T>GCA374322254ABCA1c.2002A>C (p.Lys668Gln)
n.175A>C
c.1822A>C (p.Lys608Gln)
c.2077A>C (p.Lys693Gln)
c.1639A>C (p.Lys547Gln)
c.1939A>C (p.Lys647Gln)
n.2390A>C
9g.104829030C>ACA466510484ABCA1c.2001G>T (p.Leu667=)
n.174G>T
c.1821G>T (p.Leu607=)
c.2076G>T (p.Leu692=)
c.1638G>T (p.Leu546=)
c.1938G>T (p.Leu646=)
n.2389G>T
9g.104829030C=CA1869920229ABCA1c.2001G= (p.Leu667=)
n.174G=
c.1821G= (p.Leu607=)
c.2076G= (p.Leu692=)
c.1638G= (p.Leu546=)
c.1938G= (p.Leu646=)
n.2389G=
9g.104829030C>GCA466510482ABCA1c.2001G>C (p.Leu667=)
n.174G>C
c.1821G>C (p.Leu607=)
c.2076G>C (p.Leu692=)
c.1638G>C (p.Leu546=)
c.1938G>C (p.Leu646=)
n.2389G>C
 ClinVar
9g.104829030C>TCA466510480ABCA1c.2001G>A (p.Leu667=)
n.174G>A
c.1821G>A (p.Leu607=)
c.2076G>A (p.Leu692=)
c.1638G>A (p.Leu546=)
c.1938G>A (p.Leu646=)
n.2389G>A
 dbSNP
9g.104829031A>CCA374322257ABCA1c.2000T>G (p.Leu667Arg)
n.173T>G
c.1820T>G (p.Leu607Arg)
c.2075T>G (p.Leu692Arg)
c.1637T>G (p.Leu546Arg)
c.1937T>G (p.Leu646Arg)
n.2388T>G
9g.104829031A>GCA374322258ABCA1c.2000T>C (p.Leu667Pro)
n.173T>C
c.1820T>C (p.Leu607Pro)
c.2075T>C (p.Leu692Pro)
c.1637T>C (p.Leu546Pro)
c.1937T>C (p.Leu646Pro)
n.2388T>C
9g.104829031A>TCA374322259ABCA1c.2000T>A (p.Leu667Gln)
n.173T>A
c.1820T>A (p.Leu607Gln)
c.2075T>A (p.Leu692Gln)
c.1637T>A (p.Leu546Gln)
c.1937T>A (p.Leu646Gln)
n.2388T>A
9g.104829032G>ACA466510489ABCA1c.1999C>T (p.Leu667=)
n.172C>T
c.1819C>T (p.Leu607=)
c.2074C>T (p.Leu692=)
c.1636C>T (p.Leu546=)
c.1936C>T (p.Leu646=)
n.2387C>T
9g.104829032G>CCA374322260ABCA1c.1999C>G (p.Leu667Val)
n.172C>G
c.1819C>G (p.Leu607Val)
c.2074C>G (p.Leu692Val)
c.1636C>G (p.Leu546Val)
c.1936C>G (p.Leu646Val)
n.2387C>G
9g.104829032G>TCA374322261ABCA1c.1999C>A (p.Leu667Met)
n.172C>A
c.1819C>A (p.Leu607Met)
c.2074C>A (p.Leu692Met)
c.1636C>A (p.Leu546Met)
c.1936C>A (p.Leu646Met)
n.2387C>A
 gnomAD v4
9g.104829033C>ACA466510494ABCA1c.1998G>T (p.Arg666=)
n.171G>T
c.1818G>T (p.Arg606=)
c.2073G>T (p.Arg691=)
c.1635G>T (p.Arg545=)
c.1935G>T (p.Arg645=)
n.2386G>T
9g.104829033C>GCA466510496ABCA1c.1998G>C (p.Arg666=)
n.171G>C
c.1818G>C (p.Arg606=)
c.2073G>C (p.Arg691=)
c.1635G>C (p.Arg545=)
c.1935G>C (p.Arg645=)
n.2386G>C
9g.104829033C>TCA466510498ABCA1c.1998G>A (p.Arg666=)
n.171G>A
c.1818G>A (p.Arg606=)
c.2073G>A (p.Arg691=)
c.1635G>A (p.Arg545=)
c.1935G>A (p.Arg645=)
n.2386G>A
 ClinVar
9g.104829034dupCA2691056106ABCA1c.1998dup (p.Leu667AlafsTer18)
n.171dup
c.1818dup (p.Leu607AlafsTer18)
c.2073dup (p.Leu692AlafsTer18)
c.1635dup (p.Leu546AlafsTer18)
c.1935dup (p.Leu646AlafsTer18)
n.2386dup
 gnomAD v4
9g.104829034C>ACA374322262ABCA1c.1997G>T (p.Arg666Leu)
n.170G>T
c.1817G>T (p.Arg606Leu)
c.2072G>T (p.Arg691Leu)
c.1634G>T (p.Arg545Leu)
c.1934G>T (p.Arg645Leu)
n.2385G>T
9g.104829034C=CA1869920230ABCA1c.1997G= (p.Arg666=)
n.170G=
c.1817G= (p.Arg606=)
c.2072G= (p.Arg691=)
c.1634G= (p.Arg545=)
c.1934G= (p.Arg645=)
n.2385G=
9g.104829034C>GCA374322263ABCA1c.1997G>C (p.Arg666Pro)
n.170G>C
c.1817G>C (p.Arg606Pro)
c.2072G>C (p.Arg691Pro)
c.1634G>C (p.Arg545Pro)
c.1934G>C (p.Arg645Pro)
n.2385G>C
9g.104829034C>TCA5168845ABCA1c.1997G>A (p.Arg666Gln)
n.170G>A
c.1817G>A (p.Arg606Gln)
c.2072G>A (p.Arg691Gln)
c.1634G>A (p.Arg545Gln)
c.1934G>A (p.Arg645Gln)
n.2385G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829035G>ACA5168846ABCA1c.1996C>T (p.Arg666Trp)
n.169C>T
c.1816C>T (p.Arg606Trp)
c.2071C>T (p.Arg691Trp)
c.1633C>T (p.Arg545Trp)
c.1933C>T (p.Arg645Trp)
n.2384C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829035G>CCA374322264ABCA1c.1996C>G (p.Arg666Gly)
n.169C>G
c.1816C>G (p.Arg606Gly)
c.2071C>G (p.Arg691Gly)
c.1633C>G (p.Arg545Gly)
c.1933C>G (p.Arg645Gly)
n.2384C>G
9g.104829035G=CA1869920231ABCA1c.1996C= (p.Arg666=)
n.169C=
c.1816C= (p.Arg606=)
c.2071C= (p.Arg691=)
c.1633C= (p.Arg545=)
c.1933C= (p.Arg645=)
n.2384C=
9g.104829035G>TCA197395053ABCA1c.1996C>A (p.Arg666=)
n.169C>A
c.1816C>A (p.Arg606=)
c.2071C>A (p.Arg691=)
c.1633C>A (p.Arg545=)
c.1933C>A (p.Arg645=)
n.2384C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829036T>ACA466510509ABCA1c.1995A>T (p.Ala665=)
n.168A>T
c.1815A>T (p.Ala605=)
c.2070A>T (p.Ala690=)
c.1632A>T (p.Ala544=)
c.1932A>T (p.Ala644=)
n.2383A>T
9g.104829036T>CCA197395056ABCA1c.1995A>G (p.Ala665=)
n.168A>G
c.1815A>G (p.Ala605=)
c.2070A>G (p.Ala690=)
c.1632A>G (p.Ala544=)
c.1932A>G (p.Ala644=)
n.2383A>G
 dbSNP
9g.104829036T>GCA466510511ABCA1c.1995A>C (p.Ala665=)
n.168A>C
c.1815A>C (p.Ala605=)
c.2070A>C (p.Ala690=)
c.1632A>C (p.Ala544=)
c.1932A>C (p.Ala644=)
n.2383A>C
9g.104829036T=CA1869920239ABCA1c.1995A= (p.Ala665=)
n.168A=
c.1815A= (p.Ala605=)
c.2070A= (p.Ala690=)
c.1632A= (p.Ala544=)
c.1932A= (p.Ala644=)
n.2383A=
9g.104829037G>ACA5168847ABCA1c.1994C>T (p.Ala665Val)
n.167C>T
c.1814C>T (p.Ala605Val)
c.2069C>T (p.Ala690Val)
c.1631C>T (p.Ala544Val)
c.1931C>T (p.Ala644Val)
n.2382C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829037G>CCA374322265ABCA1c.1994C>G (p.Ala665Gly)
n.167C>G
c.1814C>G (p.Ala605Gly)
c.2069C>G (p.Ala690Gly)
c.1631C>G (p.Ala544Gly)
c.1931C>G (p.Ala644Gly)
n.2382C>G
 dbSNP gnomAD v2
9g.104829037G=CA1869920241ABCA1c.1994C= (p.Ala665=)
n.167C=
c.1814C= (p.Ala605=)
c.2069C= (p.Ala690=)
c.1631C= (p.Ala544=)
c.1931C= (p.Ala644=)
n.2382C=
9g.104829037G>TCA374322266ABCA1c.1994C>A (p.Ala665Glu)
n.167C>A
c.1814C>A (p.Ala605Glu)
c.2069C>A (p.Ala690Glu)
c.1631C>A (p.Ala544Glu)
c.1931C>A (p.Ala644Glu)
n.2382C>A
9g.104829038C>ACA374322268ABCA1c.1993G>T (p.Ala665Ser)
n.166G>T
c.1813G>T (p.Ala605Ser)
c.2068G>T (p.Ala690Ser)
c.1630G>T (p.Ala544Ser)
c.1930G>T (p.Ala644Ser)
n.2381G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829038C=CA1869920248ABCA1c.1993G= (p.Ala665=)
n.166G=
c.1813G= (p.Ala605=)
c.2068G= (p.Ala690=)
c.1630G= (p.Ala544=)
c.1930G= (p.Ala644=)
n.2381G=
9g.104829038C>GCA374322269ABCA1c.1993G>C (p.Ala665Pro)
n.166G>C
c.1813G>C (p.Ala605Pro)
c.2068G>C (p.Ala690Pro)
c.1630G>C (p.Ala544Pro)
c.1930G>C (p.Ala644Pro)
n.2381G>C
9g.104829038C>TCA374322267ABCA1c.1993G>A (p.Ala665Thr)
n.166G>A
c.1813G>A (p.Ala605Thr)
c.2068G>A (p.Ala690Thr)
c.1630G>A (p.Ala544Thr)
c.1930G>A (p.Ala644Thr)
n.2381G>A
9g.104829039C>ACA374322270ABCA1c.1992G>T (p.Glu664Asp)
n.165G>T
c.1812G>T (p.Glu604Asp)
c.2067G>T (p.Glu689Asp)
c.1629G>T (p.Glu543Asp)
c.1929G>T (p.Glu643Asp)
n.2380G>T
9g.104829039C=CA1869920272ABCA1c.1992G= (p.Glu664=)
n.165G=
c.1812G= (p.Glu604=)
c.2067G= (p.Glu689=)
c.1629G= (p.Glu543=)
c.1929G= (p.Glu643=)
n.2380G=
9g.104829039C>GCA374322271ABCA1c.1992G>C (p.Glu664Asp)
n.165G>C
c.1812G>C (p.Glu604Asp)
c.2067G>C (p.Glu689Asp)
c.1629G>C (p.Glu543Asp)
c.1929G>C (p.Glu643Asp)
n.2380G>C
9g.104829039C>TCA5168848ABCA1c.1992G>A (p.Glu664=)
n.165G>A
c.1812G>A (p.Glu604=)
c.2067G>A (p.Glu689=)
c.1629G>A (p.Glu543=)
c.1929G>A (p.Glu643=)
n.2380G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829040T>ACA374322272ABCA1c.1991A>T (p.Glu664Val)
n.164A>T
c.1811A>T (p.Glu604Val)
c.2066A>T (p.Glu689Val)
c.1628A>T (p.Glu543Val)
c.1928A>T (p.Glu643Val)
n.2379A>T
9g.104829040T>CCA374322273ABCA1c.1991A>G (p.Glu664Gly)
n.164A>G
c.1811A>G (p.Glu604Gly)
c.2066A>G (p.Glu689Gly)
c.1628A>G (p.Glu543Gly)
c.1928A>G (p.Glu643Gly)
n.2379A>G
9g.104829040T>GCA374322274ABCA1c.1991A>C (p.Glu664Ala)
n.164A>C
c.1811A>C (p.Glu604Ala)
c.2066A>C (p.Glu689Ala)
c.1628A>C (p.Glu543Ala)
c.1928A>C (p.Glu643Ala)
n.2379A>C
9g.104829041C>ACA374322275ABCA1c.1990G>T (p.Glu664Ter)
n.163G>T
c.1810G>T (p.Glu604Ter)
c.2065G>T (p.Glu689Ter)
c.1627G>T (p.Glu543Ter)
c.1927G>T (p.Glu643Ter)
n.2378G>T
9g.104829041C>GCA374322276ABCA1c.1990G>C (p.Glu664Gln)
n.163G>C
c.1810G>C (p.Glu604Gln)
c.2065G>C (p.Glu689Gln)
c.1627G>C (p.Glu543Gln)
c.1927G>C (p.Glu643Gln)
n.2378G>C
9g.104829041C>TCA374322277ABCA1c.1990G>A (p.Glu664Lys)
n.163G>A
c.1810G>A (p.Glu604Lys)
c.2065G>A (p.Glu689Lys)
c.1627G>A (p.Glu543Lys)
c.1927G>A (p.Glu643Lys)
n.2378G>A
9g.104829042C>ACA374322278ABCA1c.1989G>T (p.Lys663Asn)
n.162G>T
c.1809G>T (p.Lys603Asn)
c.2064G>T (p.Lys688Asn)
c.1626G>T (p.Lys542Asn)
c.1926G>T (p.Lys642Asn)
n.2377G>T
 gnomAD v4
9g.104829042C>GCA374322279ABCA1c.1989G>C (p.Lys663Asn)
n.162G>C
c.1809G>C (p.Lys603Asn)
c.2064G>C (p.Lys688Asn)
c.1626G>C (p.Lys542Asn)
c.1926G>C (p.Lys642Asn)
n.2377G>C
9g.104829042C>TCA466510537ABCA1c.1989G>A (p.Lys663=)
n.162G>A
c.1809G>A (p.Lys603=)
c.2064G>A (p.Lys688=)
c.1626G>A (p.Lys542=)
c.1926G>A (p.Lys642=)
n.2377G>A
 gnomAD v4
9g.104829043T>ACA374322282ABCA1c.1988A>T (p.Lys663Met)
n.161A>T
c.1808A>T (p.Lys603Met)
c.2063A>T (p.Lys688Met)
c.1625A>T (p.Lys542Met)
c.1925A>T (p.Lys642Met)
n.2376A>T
9g.104829043T>CCA374322281ABCA1c.1988A>G (p.Lys663Arg)
n.161A>G
c.1808A>G (p.Lys603Arg)
c.2063A>G (p.Lys688Arg)
c.1625A>G (p.Lys542Arg)
c.1925A>G (p.Lys642Arg)
n.2376A>G
9g.104829043T>GCA374322280ABCA1c.1988A>C (p.Lys663Thr)
n.161A>C
c.1808A>C (p.Lys603Thr)
c.2063A>C (p.Lys688Thr)
c.1625A>C (p.Lys542Thr)
c.1925A>C (p.Lys642Thr)
n.2376A>C
9g.104829044T>ACA374322283ABCA1c.1987A>T (p.Lys663Ter)
n.160A>T
c.1807A>T (p.Lys603Ter)
c.2062A>T (p.Lys688Ter)
c.1624A>T (p.Lys542Ter)
c.1924A>T (p.Lys642Ter)
n.2375A>T
9g.104829044T>CCA197395067ABCA1c.1987A>G (p.Lys663Glu)
n.160A>G
c.1807A>G (p.Lys603Glu)
c.2062A>G (p.Lys688Glu)
c.1624A>G (p.Lys542Glu)
c.1924A>G (p.Lys642Glu)
n.2375A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104829044T>GCA374322284ABCA1c.1987A>C (p.Lys663Gln)
n.160A>C
c.1807A>C (p.Lys603Gln)
c.2062A>C (p.Lys688Gln)
c.1624A>C (p.Lys542Gln)
c.1924A>C (p.Lys642Gln)
n.2375A>C
9g.104829044T=CA1869920278ABCA1c.1987A= (p.Lys663=)
n.160A=
c.1807A= (p.Lys603=)
c.2062A= (p.Lys688=)
c.1624A= (p.Lys542=)
c.1924A= (p.Lys642=)
n.2375A=
9g.104829045C>ACA374322285ABCA1c.1986G>T (p.Glu662Asp)
n.159G>T
c.1806G>T (p.Glu602Asp)
c.2061G>T (p.Glu687Asp)
c.1623G>T (p.Glu541Asp)
c.1923G>T (p.Glu641Asp)
n.2374G>T
9g.104829045C>GCA374322286ABCA1c.1986G>C (p.Glu662Asp)
n.159G>C
c.1806G>C (p.Glu602Asp)
c.2061G>C (p.Glu687Asp)
c.1623G>C (p.Glu541Asp)
c.1923G>C (p.Glu641Asp)
n.2374G>C
9g.104829045C>TCA466510554ABCA1c.1986G>A (p.Glu662=)
n.159G>A
c.1806G>A (p.Glu602=)
c.2061G>A (p.Glu687=)
c.1623G>A (p.Glu541=)
c.1923G>A (p.Glu641=)
n.2374G>A
9g.104829046T>ACA374322287ABCA1c.1985A>T (p.Glu662Val)
n.158A>T
c.1805A>T (p.Glu602Val)
c.2060A>T (p.Glu687Val)
c.1622A>T (p.Glu541Val)
c.1922A>T (p.Glu641Val)
n.2373A>T
 dbSNP
9g.104829046T>CCA374322288ABCA1c.1985A>G (p.Glu662Gly)
n.158A>G
c.1805A>G (p.Glu602Gly)
c.2060A>G (p.Glu687Gly)
c.1622A>G (p.Glu541Gly)
c.1922A>G (p.Glu641Gly)
n.2373A>G
9g.104829046T>GCA374322289ABCA1c.1985A>C (p.Glu662Ala)
n.158A>C
c.1805A>C (p.Glu602Ala)
c.2060A>C (p.Glu687Ala)
c.1622A>C (p.Glu541Ala)
c.1922A>C (p.Glu641Ala)
n.2373A>C
9g.104829046T=CA1869920279ABCA1c.1985A= (p.Glu662=)
n.158A=
c.1805A= (p.Glu602=)
c.2060A= (p.Glu687=)
c.1622A= (p.Glu541=)
c.1922A= (p.Glu641=)
n.2373A=
9g.104829047C>ACA374322290ABCA1c.1984G>T (p.Glu662Ter)
n.157G>T
c.1804G>T (p.Glu602Ter)
c.2059G>T (p.Glu687Ter)
c.1621G>T (p.Glu541Ter)
c.1921G>T (p.Glu641Ter)
n.2372G>T
 COSMIC
9g.104829047C>GCA374322291ABCA1c.1984G>C (p.Glu662Gln)
n.157G>C
c.1804G>C (p.Glu602Gln)
c.2059G>C (p.Glu687Gln)
c.1621G>C (p.Glu541Gln)
c.1921G>C (p.Glu641Gln)
n.2372G>C
9g.104829047C>TCA374322292ABCA1c.1984G>A (p.Glu662Lys)
n.157G>A
c.1804G>A (p.Glu602Lys)
c.2059G>A (p.Glu687Lys)
c.1621G>A (p.Glu541Lys)
c.1921G>A (p.Glu641Lys)
n.2372G>A
9g.104829048A=CA1869920281ABCA1c.1983T= (p.Tyr661=)
n.156T=
c.1803T= (p.Tyr601=)
c.2058T= (p.Tyr686=)
c.1620T= (p.Tyr540=)
c.1920T= (p.Tyr640=)
n.2371T=
9g.104829048A>CCA374322293ABCA1c.1983T>G (p.Tyr661Ter)
n.156T>G
c.1803T>G (p.Tyr601Ter)
c.2058T>G (p.Tyr686Ter)
c.1620T>G (p.Tyr540Ter)
c.1920T>G (p.Tyr640Ter)
n.2371T>G
 dbSNP gnomAD v3 gnomAD v4
9g.104829048A>GCA466510565ABCA1c.1983T>C (p.Tyr661=)
n.156T>C
c.1803T>C (p.Tyr601=)
c.2058T>C (p.Tyr686=)
c.1620T>C (p.Tyr540=)
c.1920T>C (p.Tyr640=)
n.2371T>C
 dbSNP
9g.104829048A>TCA374322294ABCA1c.1983T>A (p.Tyr661Ter)
n.156T>A
c.1803T>A (p.Tyr601Ter)
c.2058T>A (p.Tyr686Ter)
c.1620T>A (p.Tyr540Ter)
c.1920T>A (p.Tyr640Ter)
n.2371T>A
9g.104829049T>ACA374322296ABCA1c.1982A>T (p.Tyr661Phe)
n.155A>T
c.1802A>T (p.Tyr601Phe)
c.2057A>T (p.Tyr686Phe)
c.1619A>T (p.Tyr540Phe)
c.1919A>T (p.Tyr640Phe)
n.2370A>T
9g.104829049T>CCA374322297ABCA1c.1982A>G (p.Tyr661Cys)
n.155A>G
c.1802A>G (p.Tyr601Cys)
c.2057A>G (p.Tyr686Cys)
c.1619A>G (p.Tyr540Cys)
c.1919A>G (p.Tyr640Cys)
n.2370A>G
 gnomAD v4
9g.104829049T>GCA374322295ABCA1c.1982A>C (p.Tyr661Ser)
n.155A>C
c.1802A>C (p.Tyr601Ser)
c.2057A>C (p.Tyr686Ser)
c.1619A>C (p.Tyr540Ser)
c.1919A>C (p.Tyr640Ser)
n.2370A>C
9g.104829050A=CA1869920284ABCA1c.1981T= (p.Tyr661=)
n.154T=
c.1801T= (p.Tyr601=)
c.2056T= (p.Tyr686=)
c.1618T= (p.Tyr540=)
c.1918T= (p.Tyr640=)
n.2369T=
9g.104829050A>CCA374322299ABCA1c.1981T>G (p.Tyr661Asp)
n.154T>G
c.1801T>G (p.Tyr601Asp)
c.2056T>G (p.Tyr686Asp)
c.1618T>G (p.Tyr540Asp)
c.1918T>G (p.Tyr640Asp)
n.2369T>G
 dbSNP gnomAD v4
9g.104829050A>GCA374322298ABCA1c.1981T>C (p.Tyr661His)
n.154T>C
c.1801T>C (p.Tyr601His)
c.2056T>C (p.Tyr686His)
c.1618T>C (p.Tyr540His)
c.1918T>C (p.Tyr640His)
n.2369T>C
9g.104829050A>TCA374322300ABCA1c.1981T>A (p.Tyr661Asn)
n.154T>A
c.1801T>A (p.Tyr601Asn)
c.2056T>A (p.Tyr686Asn)
c.1618T>A (p.Tyr540Asn)
c.1918T>A (p.Tyr640Asn)
n.2369T>A
9g.104829051C>ACA466510579ABCA1c.1980G>T (p.Val660=)
n.153G>T
c.1800G>T (p.Val600=)
c.2055G>T (p.Val685=)
c.1617G>T (p.Val539=)
c.1917G>T (p.Val639=)
n.2368G>T
9g.104829051C=CA1869920286ABCA1c.1980G= (p.Val660=)
n.153G=
c.1800G= (p.Val600=)
c.2055G= (p.Val685=)
c.1617G= (p.Val539=)
c.1917G= (p.Val639=)
n.2368G=
9g.104829051C>GCA466510575ABCA1c.1980G>C (p.Val660=)
n.153G>C
c.1800G>C (p.Val600=)
c.2055G>C (p.Val685=)
c.1617G>C (p.Val539=)
c.1917G>C (p.Val639=)
n.2368G>C
9g.104829051C>TCA466510577ABCA1c.1980G>A (p.Val660=)
n.153G>A
c.1800G>A (p.Val600=)
c.2055G>A (p.Val685=)
c.1617G>A (p.Val539=)
c.1917G>A (p.Val639=)
n.2368G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829051_104829052delinsCACA1869920285ABCA1c.1979_1980delinsTG (p.Val660=)
n.152_153delinsTG
c.1799_1800delinsTG (p.Val600=)
c.2054_2055delinsTG (p.Val685=)
c.1616_1617delinsTG (p.Val539=)
c.1916_1917delinsTG (p.Val639=)
n.2367_2368delinsTG
9g.104829052delCA197395069ABCA1c.1979del (p.Val660GlyfsTer8)
n.152del
c.1799del (p.Val600GlyfsTer8)
c.2054del (p.Val685GlyfsTer8)
c.1616del (p.Val539GlyfsTer8)
c.1916del (p.Val639GlyfsTer8)
n.2367del
 dbSNP
9g.104829052A>CCA374322301ABCA1c.1979T>G (p.Val660Gly)
n.152T>G
c.1799T>G (p.Val600Gly)
c.2054T>G (p.Val685Gly)
c.1616T>G (p.Val539Gly)
c.1916T>G (p.Val639Gly)
n.2367T>G
9g.104829052A>GCA374322303ABCA1c.1979T>C (p.Val660Ala)
n.152T>C
c.1799T>C (p.Val600Ala)
c.2054T>C (p.Val685Ala)
c.1616T>C (p.Val539Ala)
c.1916T>C (p.Val639Ala)
n.2367T>C
9g.104829052A>TCA374322302ABCA1c.1979T>A (p.Val660Glu)
n.152T>A
c.1799T>A (p.Val600Glu)
c.2054T>A (p.Val685Glu)
c.1616T>A (p.Val539Glu)
c.1916T>A (p.Val639Glu)
n.2367T>A
9g.104829053C>ACA5168850ABCA1c.1978G>T (p.Val660Leu)
n.151G>T
c.1798G>T (p.Val600Leu)
c.2053G>T (p.Val685Leu)
c.1615G>T (p.Val539Leu)
c.1915G>T (p.Val639Leu)
n.2366G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829053C=CA1869920291ABCA1c.1978G= (p.Val660=)
n.151G=
c.1798G= (p.Val600=)
c.2053G= (p.Val685=)
c.1615G= (p.Val539=)
c.1915G= (p.Val639=)
n.2366G=
9g.104829053C>GCA374322304ABCA1c.1978G>C (p.Val660Leu)
n.151G>C
c.1798G>C (p.Val600Leu)
c.2053G>C (p.Val685Leu)
c.1615G>C (p.Val539Leu)
c.1915G>C (p.Val639Leu)
n.2366G>C
 dbSNP
9g.104829053C>TCA5168849ABCA1c.1978G>A (p.Val660Met)
n.151G>A
c.1798G>A (p.Val600Met)
c.2053G>A (p.Val685Met)
c.1615G>A (p.Val539Met)
c.1915G>A (p.Val639Met)
n.2366G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104829054G>ACA5168851ABCA1c.1977C>T (p.Ile659=)
n.150C>T
c.1797C>T (p.Ile599=)
c.2052C>T (p.Ile684=)
c.1614C>T (p.Ile538=)
c.1914C>T (p.Ile638=)
n.2365C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829054G>CCA374322305ABCA1c.1977C>G (p.Ile659Met)
n.150C>G
c.1797C>G (p.Ile599Met)
c.2052C>G (p.Ile684Met)
c.1614C>G (p.Ile538Met)
c.1914C>G (p.Ile638Met)
n.2365C>G
9g.104829054G=CA1869920297ABCA1c.1977C= (p.Ile659=)
n.150C=
c.1797C= (p.Ile599=)
c.2052C= (p.Ile684=)
c.1614C= (p.Ile538=)
c.1914C= (p.Ile638=)
n.2365C=
9g.104829054G>TCA466510595ABCA1c.1977C>A (p.Ile659=)
n.150C>A
c.1797C>A (p.Ile599=)
c.2052C>A (p.Ile684=)
c.1614C>A (p.Ile538=)
c.1914C>A (p.Ile638=)
n.2365C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829055A=CA1869920302ABCA1c.1976T= (p.Ile659=)
n.149T=
c.1796T= (p.Ile599=)
c.2051T= (p.Ile684=)
c.1613T= (p.Ile538=)
c.1913T= (p.Ile638=)
n.2364T=
9g.104829055A>CCA374322308ABCA1c.1976T>G (p.Ile659Ser)
n.149T>G
c.1796T>G (p.Ile599Ser)
c.2051T>G (p.Ile684Ser)
c.1613T>G (p.Ile538Ser)
c.1913T>G (p.Ile638Ser)
n.2364T>G
9g.104829055A>GCA374322307ABCA1c.1976T>C (p.Ile659Thr)
n.149T>C
c.1796T>C (p.Ile599Thr)
c.2051T>C (p.Ile684Thr)
c.1613T>C (p.Ile538Thr)
c.1913T>C (p.Ile638Thr)
n.2364T>C
 dbSNP
9g.104829055A>TCA374322306ABCA1c.1976T>A (p.Ile659Asn)
n.149T>A
c.1796T>A (p.Ile599Asn)
c.2051T>A (p.Ile684Asn)
c.1613T>A (p.Ile538Asn)
c.1913T>A (p.Ile638Asn)
n.2364T>A
9g.104829056T>ACA374322309ABCA1c.1975A>T (p.Ile659Phe)
n.148A>T
c.1795A>T (p.Ile599Phe)
c.2050A>T (p.Ile684Phe)
c.1612A>T (p.Ile538Phe)
c.1912A>T (p.Ile638Phe)
n.2363A>T
 gnomAD v4
9g.104829056T>CCA374322310ABCA1c.1975A>G (p.Ile659Val)
n.148A>G
c.1795A>G (p.Ile599Val)
c.2050A>G (p.Ile684Val)
c.1612A>G (p.Ile538Val)
c.1912A>G (p.Ile638Val)
n.2363A>G
 gnomAD v4
9g.104829056T>GCA374322311ABCA1c.1975A>C (p.Ile659Leu)
n.148A>C
c.1795A>C (p.Ile599Leu)
c.2050A>C (p.Ile684Leu)
c.1612A>C (p.Ile538Leu)
c.1912A>C (p.Ile638Leu)
n.2363A>C
 gnomAD v4
9g.104829057G>ACA466510606ABCA1c.1974C>T (p.Gly658=)
n.147C>T
c.1794C>T (p.Gly598=)
c.2049C>T (p.Gly683=)
c.1611C>T (p.Gly537=)
c.1911C>T (p.Gly637=)
n.2362C>T
9g.104829057G>CCA466510609ABCA1c.1974C>G (p.Gly658=)
n.147C>G
c.1794C>G (p.Gly598=)
c.2049C>G (p.Gly683=)
c.1611C>G (p.Gly537=)
c.1911C>G (p.Gly637=)
n.2362C>G
9g.104829057G>TCA466510610ABCA1c.1974C>A (p.Gly658=)
n.147C>A
c.1794C>A (p.Gly598=)
c.2049C>A (p.Gly683=)
c.1611C>A (p.Gly537=)
c.1911C>A (p.Gly637=)
n.2362C>A
9g.104829058C>ACA5168853ABCA1c.1973G>T (p.Gly658Val)
n.146G>T
c.1793G>T (p.Gly598Val)
c.2048G>T (p.Gly683Val)
c.1610G>T (p.Gly537Val)
c.1910G>T (p.Gly637Val)
n.2361G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829058C=CA1869920316ABCA1c.1973G= (p.Gly658=)
n.146G=
c.1793G= (p.Gly598=)
c.2048G= (p.Gly683=)
c.1610G= (p.Gly537=)
c.1910G= (p.Gly637=)
n.2361G=
9g.104829058C>GCA5168852ABCA1c.1973G>C (p.Gly658Ala)
n.146G>C
c.1793G>C (p.Gly598Ala)
c.2048G>C (p.Gly683Ala)
c.1610G>C (p.Gly537Ala)
c.1910G>C (p.Gly637Ala)
n.2361G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829058C>TCA374322312ABCA1c.1973G>A (p.Gly658Asp)
n.146G>A
c.1793G>A (p.Gly598Asp)
c.2048G>A (p.Gly683Asp)
c.1610G>A (p.Gly537Asp)
c.1910G>A (p.Gly637Asp)
n.2361G>A
9g.104829059C>ACA374322315ABCA1c.1972G>T (p.Gly658Cys)
n.145G>T
c.1792G>T (p.Gly598Cys)
c.2047G>T (p.Gly683Cys)
c.1609G>T (p.Gly537Cys)
c.1909G>T (p.Gly637Cys)
n.2360G>T
9g.104829059C=CA1869920321ABCA1c.1972G= (p.Gly658=)
n.145G=
c.1792G= (p.Gly598=)
c.2047G= (p.Gly683=)
c.1609G= (p.Gly537=)
c.1909G= (p.Gly637=)
n.2360G=
9g.104829059C>GCA374322313ABCA1c.1972G>C (p.Gly658Arg)
n.145G>C
c.1792G>C (p.Gly598Arg)
c.2047G>C (p.Gly683Arg)
c.1609G>C (p.Gly537Arg)
c.1909G>C (p.Gly637Arg)
n.2360G>C
9g.104829059C>TCA374322314ABCA1c.1972G>A (p.Gly658Ser)
n.145G>A
c.1792G>A (p.Gly598Ser)
c.2047G>A (p.Gly683Ser)
c.1609G>A (p.Gly537Ser)
c.1909G>A (p.Gly637Ser)
n.2360G>A
 dbSNP
9g.104829060C>ACA374322316ABCA1c.1971G>T (p.Lys657Asn)
n.144G>T
c.1791G>T (p.Lys597Asn)
c.2046G>T (p.Lys682Asn)
c.1608G>T (p.Lys536Asn)
c.1908G>T (p.Lys636Asn)
n.2359G>T
9g.104829060C>GCA374322317ABCA1c.1971G>C (p.Lys657Asn)
n.144G>C
c.1791G>C (p.Lys597Asn)
c.2046G>C (p.Lys682Asn)
c.1608G>C (p.Lys536Asn)
c.1908G>C (p.Lys636Asn)
n.2359G>C
9g.104829060C>TCA466510624ABCA1c.1971G>A (p.Lys657=)
n.144G>A
c.1791G>A (p.Lys597=)
c.2046G>A (p.Lys682=)
c.1608G>A (p.Lys536=)
c.1908G>A (p.Lys636=)
n.2359G>A
9g.104829061T>ACA374322318ABCA1c.1970A>T (p.Lys657Met)
n.143A>T
c.1790A>T (p.Lys597Met)
c.2045A>T (p.Lys682Met)
c.1607A>T (p.Lys536Met)
c.1907A>T (p.Lys636Met)
n.2358A>T
9g.104829061T>CCA374322319ABCA1c.1970A>G (p.Lys657Arg)
n.143A>G
c.1790A>G (p.Lys597Arg)
c.2045A>G (p.Lys682Arg)
c.1607A>G (p.Lys536Arg)
c.1907A>G (p.Lys636Arg)
n.2358A>G
 gnomAD v4
9g.104829061T>GCA374322320ABCA1c.1970A>C (p.Lys657Thr)
n.143A>C
c.1790A>C (p.Lys597Thr)
c.2045A>C (p.Lys682Thr)
c.1607A>C (p.Lys536Thr)
c.1907A>C (p.Lys636Thr)
n.2358A>C
9g.104829062T>ACA374322321ABCA1c.1969A>T (p.Lys657Ter)
n.142A>T
c.1789A>T (p.Lys597Ter)
c.2044A>T (p.Lys682Ter)
c.1606A>T (p.Lys536Ter)
c.1906A>T (p.Lys636Ter)
n.2357A>T
9g.104829062T>CCA374322322ABCA1c.1969A>G (p.Lys657Glu)
n.142A>G
c.1789A>G (p.Lys597Glu)
c.2044A>G (p.Lys682Glu)
c.1606A>G (p.Lys536Glu)
c.1906A>G (p.Lys636Glu)
n.2357A>G
9g.104829062T>GCA374322323ABCA1c.1969A>C (p.Lys657Gln)
n.142A>C
c.1789A>C (p.Lys597Gln)
c.2044A>C (p.Lys682Gln)
c.1606A>C (p.Lys536Gln)
c.1906A>C (p.Lys636Gln)
n.2357A>C
9g.104829063G>ACA466510635ABCA1c.1968C>T (p.Ile656=)
n.141C>T
c.1788C>T (p.Ile596=)
c.2043C>T (p.Ile681=)
c.1605C>T (p.Ile535=)
c.1905C>T (p.Ile635=)
n.2356C>T
9g.104829063G>CCA5168854ABCA1c.1968C>G (p.Ile656Met)
n.141C>G
c.1788C>G (p.Ile596Met)
c.2043C>G (p.Ile681Met)
c.1605C>G (p.Ile535Met)
c.1905C>G (p.Ile635Met)
n.2356C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829063G=CA1869920328ABCA1c.1968C= (p.Ile656=)
n.141C=
c.1788C= (p.Ile596=)
c.2043C= (p.Ile681=)
c.1605C= (p.Ile535=)
c.1905C= (p.Ile635=)
n.2356C=
9g.104829063G>TCA466510639ABCA1c.1968C>A (p.Ile656=)
n.141C>A
c.1788C>A (p.Ile596=)
c.2043C>A (p.Ile681=)
c.1605C>A (p.Ile535=)
c.1905C>A (p.Ile635=)
n.2356C>A
9g.104829064A>CCA374322324ABCA1c.1967T>G (p.Ile656Ser)
n.140T>G
c.1787T>G (p.Ile596Ser)
c.2042T>G (p.Ile681Ser)
c.1604T>G (p.Ile535Ser)
c.1904T>G (p.Ile635Ser)
n.2355T>G
9g.104829064A>GCA374322325ABCA1c.1967T>C (p.Ile656Thr)
n.140T>C
c.1787T>C (p.Ile596Thr)
c.2042T>C (p.Ile681Thr)
c.1604T>C (p.Ile535Thr)
c.1904T>C (p.Ile635Thr)
n.2355T>C
9g.104829064A>TCA374322326ABCA1c.1967T>A (p.Ile656Asn)
n.140T>A
c.1787T>A (p.Ile596Asn)
c.2042T>A (p.Ile681Asn)
c.1604T>A (p.Ile535Asn)
c.1904T>A (p.Ile635Asn)
n.2355T>A
9g.104829065T>ACA374322327ABCA1c.1966A>T (p.Ile656Phe)
n.139A>T
c.1786A>T (p.Ile596Phe)
c.2041A>T (p.Ile681Phe)
c.1603A>T (p.Ile535Phe)
c.1903A>T (p.Ile635Phe)
n.2354A>T
 gnomAD v4
9g.104829065T>CCA374322329ABCA1c.1966A>G (p.Ile656Val)
n.139A>G
c.1786A>G (p.Ile596Val)
c.2041A>G (p.Ile681Val)
c.1603A>G (p.Ile535Val)
c.1903A>G (p.Ile635Val)
n.2354A>G
9g.104829065T>GCA374322328ABCA1c.1966A>C (p.Ile656Leu)
n.139A>C
c.1786A>C (p.Ile596Leu)
c.2041A>C (p.Ile681Leu)
c.1603A>C (p.Ile535Leu)
c.1903A>C (p.Ile635Leu)
n.2354A>C
 gnomAD v4
9g.104829066G>ACA466510649ABCA1c.1965C>T (p.Ile655=)
n.138C>T
c.1785C>T (p.Ile595=)
c.2040C>T (p.Ile680=)
c.1602C>T (p.Ile534=)
c.1902C>T (p.Ile634=)
n.2353C>T
9g.104829066G>CCA374322330ABCA1c.1965C>G (p.Ile655Met)
n.138C>G
c.1785C>G (p.Ile595Met)
c.2040C>G (p.Ile680Met)
c.1602C>G (p.Ile534Met)
c.1902C>G (p.Ile634Met)
n.2353C>G
 gnomAD v4
9g.104829066G>TCA466510651ABCA1c.1965C>A (p.Ile655=)
n.138C>A
c.1785C>A (p.Ile595=)
c.2040C>A (p.Ile680=)
c.1602C>A (p.Ile534=)
c.1902C>A (p.Ile634=)
n.2353C>A
9g.104829067A>CCA374322331ABCA1c.1964T>G (p.Ile655Ser)
n.137T>G
c.1784T>G (p.Ile595Ser)
c.2039T>G (p.Ile680Ser)
c.1601T>G (p.Ile534Ser)
c.1901T>G (p.Ile634Ser)
n.2352T>G
9g.104829067A>GCA374322332ABCA1c.1964T>C (p.Ile655Thr)
n.137T>C
c.1784T>C (p.Ile595Thr)
c.2039T>C (p.Ile680Thr)
c.1601T>C (p.Ile534Thr)
c.1901T>C (p.Ile634Thr)
n.2352T>C
9g.104829067A>TCA374322333ABCA1c.1964T>A (p.Ile655Asn)
n.137T>A
c.1784T>A (p.Ile595Asn)
c.2039T>A (p.Ile680Asn)
c.1601T>A (p.Ile534Asn)
c.1901T>A (p.Ile634Asn)
n.2352T>A
9g.104829068T>ACA374322334ABCA1c.1963A>T (p.Ile655Phe)
n.136A>T
c.1783A>T (p.Ile595Phe)
c.2038A>T (p.Ile680Phe)
c.1600A>T (p.Ile534Phe)
c.1900A>T (p.Ile634Phe)
n.2351A>T
9g.104829068T>CCA374322335ABCA1c.1963A>G (p.Ile655Val)
n.136A>G
c.1783A>G (p.Ile595Val)
c.2038A>G (p.Ile680Val)
c.1600A>G (p.Ile534Val)
c.1900A>G (p.Ile634Val)
n.2351A>G
9g.104829068T>GCA374322336ABCA1c.1963A>C (p.Ile655Leu)
n.136A>C
c.1783A>C (p.Ile595Leu)
c.2038A>C (p.Ile680Leu)
c.1600A>C (p.Ile534Leu)
c.1900A>C (p.Ile634Leu)
n.2351A>C
9g.104829069C>ACA466510664ABCA1c.1962G>T (p.Val654=)
n.135G>T
c.1782G>T (p.Val594=)
c.2037G>T (p.Val679=)
c.1599G>T (p.Val533=)
c.1899G>T (p.Val633=)
n.2350G>T
9g.104829069C>GCA466510665ABCA1c.1962G>C (p.Val654=)
n.135G>C
c.1782G>C (p.Val594=)
c.2037G>C (p.Val679=)
c.1599G>C (p.Val533=)
c.1899G>C (p.Val633=)
n.2350G>C
9g.104829069C>TCA466510668ABCA1c.1962G>A (p.Val654=)
n.135G>A
c.1782G>A (p.Val594=)
c.2037G>A (p.Val679=)
c.1599G>A (p.Val533=)
c.1899G>A (p.Val633=)
n.2350G>A
9g.104829070A=CA1869920335ABCA1c.1961T= (p.Val654=)
n.134T=
c.1781T= (p.Val594=)
c.2036T= (p.Val679=)
c.1598T= (p.Val533=)
c.1898T= (p.Val633=)
n.2349T=
9g.104829070A>CCA5168855ABCA1c.1961T>G (p.Val654Gly)
n.134T>G
c.1781T>G (p.Val594Gly)
c.2036T>G (p.Val679Gly)
c.1598T>G (p.Val533Gly)
c.1898T>G (p.Val633Gly)
n.2349T>G
 dbSNP ExAC gnomAD v2
9g.104829070A>GCA374322337ABCA1c.1961T>C (p.Val654Ala)
n.134T>C
c.1781T>C (p.Val594Ala)
c.2036T>C (p.Val679Ala)
c.1598T>C (p.Val533Ala)
c.1898T>C (p.Val633Ala)
n.2349T>C
9g.104829070A>TCA374322338ABCA1c.1961T>A (p.Val654Glu)
n.134T>A
c.1781T>A (p.Val594Glu)
c.2036T>A (p.Val679Glu)
c.1598T>A (p.Val533Glu)
c.1898T>A (p.Val633Glu)
n.2349T>A
9g.104829071C>ACA374322339ABCA1c.1960G>T (p.Val654Leu)
n.133G>T
c.1780G>T (p.Val594Leu)
c.2035G>T (p.Val679Leu)
c.1597G>T (p.Val533Leu)
c.1897G>T (p.Val633Leu)
n.2348G>T
9g.104829071C>GCA374322340ABCA1c.1960G>C (p.Val654Leu)
n.133G>C
c.1780G>C (p.Val594Leu)
c.2035G>C (p.Val679Leu)
c.1597G>C (p.Val533Leu)
c.1897G>C (p.Val633Leu)
n.2348G>C
9g.104829071C>TCA374322341ABCA1c.1960G>A (p.Val654Met)
n.133G>A
c.1780G>A (p.Val594Met)
c.2035G>A (p.Val679Met)
c.1597G>A (p.Val533Met)
c.1897G>A (p.Val633Met)
n.2348G>A
 ClinVar gnomAD v4
9g.104829072A>CCA466510682ABCA1c.1959T>G (p.Ala653=)
n.132T>G
c.1779T>G (p.Ala593=)
c.2034T>G (p.Ala678=)
c.1596T>G (p.Ala532=)
c.1896T>G (p.Ala632=)
n.2347T>G
9g.104829072A>GCA466510678ABCA1c.1959T>C (p.Ala653=)
n.132T>C
c.1779T>C (p.Ala593=)
c.2034T>C (p.Ala678=)
c.1596T>C (p.Ala532=)
c.1896T>C (p.Ala632=)
n.2347T>C
9g.104829072A>TCA466510680ABCA1c.1959T>A (p.Ala653=)
n.132T>A
c.1779T>A (p.Ala593=)
c.2034T>A (p.Ala678=)
c.1596T>A (p.Ala532=)
c.1896T>A (p.Ala632=)
n.2347T>A
9g.104829073G>ACA374322345ABCA1c.1958C>T (p.Ala653Val)
n.131C>T
c.1778C>T (p.Ala593Val)
c.2033C>T (p.Ala678Val)
c.1595C>T (p.Ala532Val)
c.1895C>T (p.Ala632Val)
n.2346C>T
9g.104829073G>CCA374322349ABCA1c.1958C>G (p.Ala653Gly)
n.131C>G
c.1778C>G (p.Ala593Gly)
c.2033C>G (p.Ala678Gly)
c.1595C>G (p.Ala532Gly)
c.1895C>G (p.Ala632Gly)
n.2346C>G
9g.104829073G>TCA374322347ABCA1c.1958C>A (p.Ala653Asp)
n.131C>A
c.1778C>A (p.Ala593Asp)
c.2033C>A (p.Ala678Asp)
c.1595C>A (p.Ala532Asp)
c.1895C>A (p.Ala632Asp)
n.2346C>A
9g.104829074C>ACA374322351ABCA1c.1957G>T (p.Ala653Ser)
n.130G>T
c.1777G>T (p.Ala593Ser)
c.2032G>T (p.Ala678Ser)
c.1594G>T (p.Ala532Ser)
c.1894G>T (p.Ala632Ser)
n.2345G>T
9g.104829074C>GCA374322353ABCA1c.1957G>C (p.Ala653Pro)
n.130G>C
c.1777G>C (p.Ala593Pro)
c.2032G>C (p.Ala678Pro)
c.1594G>C (p.Ala532Pro)
c.1894G>C (p.Ala632Pro)
n.2345G>C
9g.104829074C>TCA374322356ABCA1c.1957G>A (p.Ala653Thr)
n.130G>A
c.1777G>A (p.Ala593Thr)
c.2032G>A (p.Ala678Thr)
c.1594G>A (p.Ala532Thr)
c.1894G>A (p.Ala632Thr)
n.2345G>A
9g.104829075C>ACA466510694ABCA1c.1956G>T (p.Val652=)
n.129G>T
c.1776G>T (p.Val592=)
c.2031G>T (p.Val677=)
c.1593G>T (p.Val531=)
c.1893G>T (p.Val631=)
n.2344G>T
9g.104829075C=CA1869920346ABCA1c.1956G= (p.Val652=)
n.129G=
c.1776G= (p.Val592=)
c.2031G= (p.Val677=)
c.1593G= (p.Val531=)
c.1893G= (p.Val631=)
n.2344G=
9g.104829075C>GCA466510695ABCA1c.1956G>C (p.Val652=)
n.129G>C
c.1776G>C (p.Val592=)
c.2031G>C (p.Val677=)
c.1593G>C (p.Val531=)
c.1893G>C (p.Val631=)
n.2344G>C
9g.104829075C>TCA466510697ABCA1c.1956G>A (p.Val652=)
n.129G>A
c.1776G>A (p.Val592=)
c.2031G>A (p.Val677=)
c.1593G>A (p.Val531=)
c.1893G>A (p.Val631=)
n.2344G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104829076A=CA1869920361ABCA1c.1955T= (p.Val652=)
n.128T=
c.1775T= (p.Val592=)
c.2030T= (p.Val677=)
c.1592T= (p.Val531=)
c.1892T= (p.Val631=)
n.2343T=
9g.104829076A>CCA374322359ABCA1c.1955T>G (p.Val652Gly)
n.128T>G
c.1775T>G (p.Val592Gly)
c.2030T>G (p.Val677Gly)
c.1592T>G (p.Val531Gly)
c.1892T>G (p.Val631Gly)
n.2343T>G
9g.104829076A>GCA197395107ABCA1c.1955T>C (p.Val652Ala)
n.128T>C
c.1775T>C (p.Val592Ala)
c.2030T>C (p.Val677Ala)
c.1592T>C (p.Val531Ala)
c.1892T>C (p.Val631Ala)
n.2343T>C
 dbSNP
9g.104829076A>TCA374322363ABCA1c.1955T>A (p.Val652Glu)
n.128T>A
c.1775T>A (p.Val592Glu)
c.2030T>A (p.Val677Glu)
c.1592T>A (p.Val531Glu)
c.1892T>A (p.Val631Glu)
n.2343T>A
9g.104829077C>ACA374322365ABCA1c.1954G>T (p.Val652Leu)
n.127G>T
c.1774G>T (p.Val592Leu)
c.2029G>T (p.Val677Leu)
c.1591G>T (p.Val531Leu)
c.1891G>T (p.Val631Leu)
n.2342G>T
9g.104829077C>GCA374322367ABCA1c.1954G>C (p.Val652Leu)
n.127G>C
c.1774G>C (p.Val592Leu)
c.2029G>C (p.Val677Leu)
c.1591G>C (p.Val531Leu)
c.1891G>C (p.Val631Leu)
n.2342G>C
9g.104829077C>TCA374322369ABCA1c.1954G>A (p.Val652Met)
n.127G>A
c.1774G>A (p.Val592Met)
c.2029G>A (p.Val677Met)
c.1591G>A (p.Val531Met)
c.1891G>A (p.Val631Met)
n.2342G>A
9g.104829078T>ACA466510710ABCA1c.1953A>T (p.Ser651=)
n.126A>T
c.1773A>T (p.Ser591=)
c.2028A>T (p.Ser676=)
c.1590A>T (p.Ser530=)
c.1890A>T (p.Ser630=)
n.2341A>T
9g.104829078T>CCA5168856ABCA1c.1953A>G (p.Ser651=)
n.126A>G
c.1773A>G (p.Ser591=)
c.2028A>G (p.Ser676=)
c.1590A>G (p.Ser530=)
c.1890A>G (p.Ser630=)
n.2341A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829078T>GCA466510712ABCA1c.1953A>C (p.Ser651=)
n.126A>C
c.1773A>C (p.Ser591=)
c.2028A>C (p.Ser676=)
c.1590A>C (p.Ser530=)
c.1890A>C (p.Ser630=)
n.2341A>C
9g.104829078T=CA1869920367ABCA1c.1953A= (p.Ser651=)
n.126A=
c.1773A= (p.Ser591=)
c.2028A= (p.Ser676=)
c.1590A= (p.Ser530=)
c.1890A= (p.Ser630=)
n.2341A=
9g.104829079G>ACA374322378ABCA1c.1952C>T (p.Ser651Leu)
n.125C>T
c.1772C>T (p.Ser591Leu)
c.2027C>T (p.Ser676Leu)
c.1589C>T (p.Ser530Leu)
c.1889C>T (p.Ser630Leu)
n.2340C>T
 dbSNP gnomAD v3 gnomAD v4
9g.104829079G>CCA374322375ABCA1c.1952C>G (p.Ser651Ter)
n.125C>G
c.1772C>G (p.Ser591Ter)
c.2027C>G (p.Ser676Ter)
c.1589C>G (p.Ser530Ter)
c.1889C>G (p.Ser630Ter)
n.2340C>G
9g.104829079G=CA1869920375ABCA1c.1952C= (p.Ser651=)
n.125C=
c.1772C= (p.Ser591=)
c.2027C= (p.Ser676=)
c.1589C= (p.Ser530=)
c.1889C= (p.Ser630=)
n.2340C=
9g.104829079G>TCA374322373ABCA1c.1952C>A (p.Ser651Ter)
n.125C>A
c.1772C>A (p.Ser591Ter)
c.2027C>A (p.Ser676Ter)
c.1589C>A (p.Ser530Ter)
c.1889C>A (p.Ser630Ter)
n.2340C>A
9g.104829080A>CCA374322381ABCA1c.1951T>G (p.Ser651Ala)
n.124T>G
c.1771T>G (p.Ser591Ala)
c.2026T>G (p.Ser676Ala)
c.1588T>G (p.Ser530Ala)
c.1888T>G (p.Ser630Ala)
n.2339T>G
9g.104829080A>GCA374322383ABCA1c.1951T>C (p.Ser651Pro)
n.124T>C
c.1771T>C (p.Ser591Pro)
c.2026T>C (p.Ser676Pro)
c.1588T>C (p.Ser530Pro)
c.1888T>C (p.Ser630Pro)
n.2339T>C
9g.104829080A>TCA374322385ABCA1c.1951T>A (p.Ser651Thr)
n.124T>A
c.1771T>A (p.Ser591Thr)
c.2026T>A (p.Ser676Thr)
c.1588T>A (p.Ser530Thr)
c.1888T>A (p.Ser630Thr)
n.2339T>A
9g.104829081G>ACA466510723ABCA1c.1950C>T (p.Tyr650=)
n.123C>T
c.1770C>T (p.Tyr590=)
c.2025C>T (p.Tyr675=)
c.1587C>T (p.Tyr529=)
c.1887C>T (p.Tyr629=)
n.2338C>T
9g.104829081G>CCA374322387ABCA1c.1950C>G (p.Tyr650Ter)
n.123C>G
c.1770C>G (p.Tyr590Ter)
c.2025C>G (p.Tyr675Ter)
c.1587C>G (p.Tyr529Ter)
c.1887C>G (p.Tyr629Ter)
n.2338C>G
9g.104829081G>TCA374322388ABCA1c.1950C>A (p.Tyr650Ter)
n.123C>A
c.1770C>A (p.Tyr590Ter)
c.2025C>A (p.Tyr675Ter)
c.1587C>A (p.Tyr529Ter)
c.1887C>A (p.Tyr629Ter)
n.2338C>A
9g.104829082T>ACA374322391ABCA1c.1949A>T (p.Tyr650Phe)
n.122A>T
c.1769A>T (p.Tyr590Phe)
c.2024A>T (p.Tyr675Phe)
c.1586A>T (p.Tyr529Phe)
c.1886A>T (p.Tyr629Phe)
n.2337A>T
9g.104829082T>CCA374322393ABCA1c.1949A>G (p.Tyr650Cys)
n.122A>G
c.1769A>G (p.Tyr590Cys)
c.2024A>G (p.Tyr675Cys)
c.1586A>G (p.Tyr529Cys)
c.1886A>G (p.Tyr629Cys)
n.2337A>G
 gnomAD v4
9g.104829082T>GCA374322395ABCA1c.1949A>C (p.Tyr650Ser)
n.122A>C
c.1769A>C (p.Tyr590Ser)
c.2024A>C (p.Tyr675Ser)
c.1586A>C (p.Tyr529Ser)
c.1886A>C (p.Tyr629Ser)
n.2337A>C
9g.104829083A>CCA374322398ABCA1c.1948T>G (p.Tyr650Asp)
n.121T>G
c.1768T>G (p.Tyr590Asp)
c.2023T>G (p.Tyr675Asp)
c.1585T>G (p.Tyr529Asp)
c.1885T>G (p.Tyr629Asp)
n.2336T>G
9g.104829083A>GCA374322400ABCA1c.1948T>C (p.Tyr650His)
n.121T>C
c.1768T>C (p.Tyr590His)
c.2023T>C (p.Tyr675His)
c.1585T>C (p.Tyr529His)
c.1885T>C (p.Tyr629His)
n.2336T>C
9g.104829083A>TCA374322402ABCA1c.1948T>A (p.Tyr650Asn)
n.121T>A
c.1768T>A (p.Tyr590Asn)
c.2023T>A (p.Tyr675Asn)
c.1585T>A (p.Tyr529Asn)
c.1885T>A (p.Tyr629Asn)
n.2336T>A
9g.104829084A=CA1869920377ABCA1c.1947T= (p.Ile649=)
n.120T=
c.1767T= (p.Ile589=)
c.2022T= (p.Ile674=)
c.1584T= (p.Ile528=)
c.1884T= (p.Ile628=)
n.2335T=
9g.104829084A>CCA374322404ABCA1c.1947T>G (p.Ile649Met)
n.120T>G
c.1767T>G (p.Ile589Met)
c.2022T>G (p.Ile674Met)
c.1584T>G (p.Ile528Met)
c.1884T>G (p.Ile628Met)
n.2335T>G
9g.104829084A>GCA466510736ABCA1c.1947T>C (p.Ile649=)
n.120T>C
c.1767T>C (p.Ile589=)
c.2022T>C (p.Ile674=)
c.1584T>C (p.Ile528=)
c.1884T>C (p.Ile628=)
n.2335T>C
9g.104829084A>TCA5168857ABCA1c.1947T>A (p.Ile649=)
n.120T>A
c.1767T>A (p.Ile589=)
c.2022T>A (p.Ile674=)
c.1584T>A (p.Ile528=)
c.1884T>A (p.Ile628=)
n.2335T>A
 dbSNP ExAC gnomAD v2
9g.104829085A>CCA374322412ABCA1c.1946T>G (p.Ile649Ser)
n.119T>G
c.1766T>G (p.Ile589Ser)
c.2021T>G (p.Ile674Ser)
c.1583T>G (p.Ile528Ser)
c.1883T>G (p.Ile628Ser)
n.2334T>G
9g.104829085A>GCA374322410ABCA1c.1946T>C (p.Ile649Thr)
n.119T>C
c.1766T>C (p.Ile589Thr)
c.2021T>C (p.Ile674Thr)
c.1583T>C (p.Ile528Thr)
c.1883T>C (p.Ile628Thr)
n.2334T>C
9g.104829085A>TCA374322408ABCA1c.1946T>A (p.Ile649Asn)
n.119T>A
c.1766T>A (p.Ile589Asn)
c.2021T>A (p.Ile674Asn)
c.1583T>A (p.Ile528Asn)
c.1883T>A (p.Ile628Asn)
n.2334T>A
9g.104829086T>ACA197395117ABCA1c.1945A>T (p.Ile649Phe)
n.118A>T
c.1765A>T (p.Ile589Phe)
c.2020A>T (p.Ile674Phe)
c.1582A>T (p.Ile528Phe)
c.1882A>T (p.Ile628Phe)
n.2333A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829086T>CCA374322417ABCA1c.1945A>G (p.Ile649Val)
n.118A>G
c.1765A>G (p.Ile589Val)
c.2020A>G (p.Ile674Val)
c.1582A>G (p.Ile528Val)
c.1882A>G (p.Ile628Val)
n.2333A>G
9g.104829086T>GCA374322418ABCA1c.1945A>C (p.Ile649Leu)
n.118A>C
c.1765A>C (p.Ile589Leu)
c.2020A>C (p.Ile674Leu)
c.1582A>C (p.Ile528Leu)
c.1882A>C (p.Ile628Leu)
n.2333A>C
9g.104829086T=CA1869920383ABCA1c.1945A= (p.Ile649=)
n.118A=
c.1765A= (p.Ile589=)
c.2020A= (p.Ile674=)
c.1582A= (p.Ile528=)
c.1882A= (p.Ile628=)
n.2333A=
9g.104829087C>ACA374322420ABCA1c.1944G>T (p.Trp648Cys)
n.117G>T
c.1764G>T (p.Trp588Cys)
c.2019G>T (p.Trp673Cys)
c.1581G>T (p.Trp527Cys)
c.1881G>T (p.Trp627Cys)
n.2332G>T
9g.104829087C=CA1869920392ABCA1c.1944G= (p.Trp648=)
n.117G=
c.1764G= (p.Trp588=)
c.2019G= (p.Trp673=)
c.1581G= (p.Trp527=)
c.1881G= (p.Trp627=)
n.2332G=
9g.104829087C>GCA374322422ABCA1c.1944G>C (p.Trp648Cys)
n.117G>C
c.1764G>C (p.Trp588Cys)
c.2019G>C (p.Trp673Cys)
c.1581G>C (p.Trp527Cys)
c.1881G>C (p.Trp627Cys)
n.2332G>C
 dbSNP gnomAD v3 gnomAD v4
9g.104829087C>TCA374322425ABCA1c.1944G>A (p.Trp648Ter)
n.117G>A
c.1764G>A (p.Trp588Ter)
c.2019G>A (p.Trp673Ter)
c.1581G>A (p.Trp527Ter)
c.1881G>A (p.Trp627Ter)
n.2332G>A
9g.104829088C>ACA374322427ABCA1c.1943G>T (p.Trp648Leu)
n.116G>T
c.1763G>T (p.Trp588Leu)
c.2018G>T (p.Trp673Leu)
c.1580G>T (p.Trp527Leu)
c.1880G>T (p.Trp627Leu)
n.2331G>T
9g.104829088C>GCA374322428ABCA1c.1943G>C (p.Trp648Ser)
n.116G>C
c.1763G>C (p.Trp588Ser)
c.2018G>C (p.Trp673Ser)
c.1580G>C (p.Trp527Ser)
c.1880G>C (p.Trp627Ser)
n.2331G>C
9g.104829088C>TCA374322430ABCA1c.1943G>A (p.Trp648Ter)
n.116G>A
c.1763G>A (p.Trp588Ter)
c.2018G>A (p.Trp673Ter)
c.1580G>A (p.Trp527Ter)
c.1880G>A (p.Trp627Ter)
n.2331G>A
9g.104829089A>CCA374322433ABCA1c.1942T>G (p.Trp648Gly)
n.115T>G
c.1762T>G (p.Trp588Gly)
c.2017T>G (p.Trp673Gly)
c.1579T>G (p.Trp527Gly)
c.1879T>G (p.Trp627Gly)
n.2330T>G
9g.104829089A>GCA374322435ABCA1c.1942T>C (p.Trp648Arg)
n.115T>C
c.1762T>C (p.Trp588Arg)
c.2017T>C (p.Trp673Arg)
c.1579T>C (p.Trp527Arg)
c.1879T>C (p.Trp627Arg)
n.2330T>C
9g.104829089A>TCA374322437ABCA1c.1942T>A (p.Trp648Arg)
n.115T>A
c.1762T>A (p.Trp588Arg)
c.2017T>A (p.Trp673Arg)
c.1579T>A (p.Trp527Arg)
c.1879T>A (p.Trp627Arg)
n.2330T>A
9g.104829090G>ACA5168858ABCA1c.1941C>T (p.Ala647=)
n.114C>T
c.1761C>T (p.Ala587=)
c.2016C>T (p.Ala672=)
c.1578C>T (p.Ala526=)
c.1878C>T (p.Ala626=)
n.2329C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829090G>CCA466510765ABCA1c.1941C>G (p.Ala647=)
n.114C>G
c.1761C>G (p.Ala587=)
c.2016C>G (p.Ala672=)
c.1578C>G (p.Ala526=)
c.1878C>G (p.Ala626=)
n.2329C>G
9g.104829090G=CA1869920398ABCA1c.1941C= (p.Ala647=)
n.114C=
c.1761C= (p.Ala587=)
c.2016C= (p.Ala672=)
c.1578C= (p.Ala526=)
c.1878C= (p.Ala626=)
n.2329C=
9g.104829090G>TCA5168859ABCA1c.1941C>A (p.Ala647=)
n.114C>A
c.1761C>A (p.Ala587=)
c.2016C>A (p.Ala672=)
c.1578C>A (p.Ala526=)
c.1878C>A (p.Ala626=)
n.2329C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829091G>ACA374322443ABCA1c.1940C>T (p.Ala647Val)
n.113C>T
c.1760C>T (p.Ala587Val)
c.2015C>T (p.Ala672Val)
c.1577C>T (p.Ala526Val)
c.1877C>T (p.Ala626Val)
n.2328C>T
9g.104829091G>CCA374322445ABCA1c.1940C>G (p.Ala647Gly)
n.113C>G
c.1760C>G (p.Ala587Gly)
c.2015C>G (p.Ala672Gly)
c.1577C>G (p.Ala526Gly)
c.1877C>G (p.Ala626Gly)
n.2328C>G
9g.104829091G>TCA374322441ABCA1c.1940C>A (p.Ala647Asp)
n.113C>A
c.1760C>A (p.Ala587Asp)
c.2015C>A (p.Ala672Asp)
c.1577C>A (p.Ala526Asp)
c.1877C>A (p.Ala626Asp)
n.2328C>A
9g.104829092C>ACA374322448ABCA1c.1939G>T (p.Ala647Ser)
n.112G>T
c.1759G>T (p.Ala587Ser)
c.2014G>T (p.Ala672Ser)
c.1576G>T (p.Ala526Ser)
c.1876G>T (p.Ala626Ser)
n.2327G>T
9g.104829092C=CA1869920407ABCA1c.1939G= (p.Ala647=)
n.112G=
c.1759G= (p.Ala587=)
c.2014G= (p.Ala672=)
c.1576G= (p.Ala526=)
c.1876G= (p.Ala626=)
n.2327G=
9g.104829092C>GCA374322450ABCA1c.1939G>C (p.Ala647Pro)
n.112G>C
c.1759G>C (p.Ala587Pro)
c.2014G>C (p.Ala672Pro)
c.1576G>C (p.Ala526Pro)
c.1876G>C (p.Ala626Pro)
n.2327G>C
9g.104829092C>TCA5168860ABCA1c.1939G>A (p.Ala647Thr)
n.112G>A
c.1759G>A (p.Ala587Thr)
c.2014G>A (p.Ala672Thr)
c.1576G>A (p.Ala526Thr)
c.1876G>A (p.Ala626Thr)
n.2327G>A
 dbSNP ExAC gnomAD v2
9g.104829093C>ACA466510786ABCA1c.1938G>T (p.Leu646=)
n.111G>T
c.1758G>T (p.Leu586=)
c.2013G>T (p.Leu671=)
c.1575G>T (p.Leu525=)
c.1875G>T (p.Leu625=)
n.2326G>T
9g.104829093C>GCA466510787ABCA1c.1938G>C (p.Leu646=)
n.111G>C
c.1758G>C (p.Leu586=)
c.2013G>C (p.Leu671=)
c.1575G>C (p.Leu525=)
c.1875G>C (p.Leu625=)
n.2326G>C
 gnomAD v4
9g.104829093C>TCA466510789ABCA1c.1938G>A (p.Leu646=)
n.111G>A
c.1758G>A (p.Leu586=)
c.2013G>A (p.Leu671=)
c.1575G>A (p.Leu525=)
c.1875G>A (p.Leu625=)
n.2326G>A
9g.104829094A>CCA374322453ABCA1c.1937T>G (p.Leu646Arg)
n.110T>G
c.1757T>G (p.Leu586Arg)
c.2012T>G (p.Leu671Arg)
c.1574T>G (p.Leu525Arg)
c.1874T>G (p.Leu625Arg)
n.2325T>G
9g.104829094A>GCA374322455ABCA1c.1937T>C (p.Leu646Pro)
n.110T>C
c.1757T>C (p.Leu586Pro)
c.2012T>C (p.Leu671Pro)
c.1574T>C (p.Leu525Pro)
c.1874T>C (p.Leu625Pro)
n.2325T>C
9g.104829094A>TCA374322457ABCA1c.1937T>A (p.Leu646Gln)
n.110T>A
c.1757T>A (p.Leu586Gln)
c.2012T>A (p.Leu671Gln)
c.1574T>A (p.Leu525Gln)
c.1874T>A (p.Leu625Gln)
n.2325T>A
9g.104829095G>ACA466510796ABCA1c.1936C>T (p.Leu646=)
n.109C>T
c.1756C>T (p.Leu586=)
c.2011C>T (p.Leu671=)
c.1573C>T (p.Leu525=)
c.1873C>T (p.Leu625=)
n.2324C>T
 COSMIC
9g.104829095G>CCA374322460ABCA1c.1936C>G (p.Leu646Val)
n.109C>G
c.1756C>G (p.Leu586Val)
c.2011C>G (p.Leu671Val)
c.1573C>G (p.Leu525Val)
c.1873C>G (p.Leu625Val)
n.2324C>G
 gnomAD v4
9g.104829095G>TCA374322461ABCA1c.1936C>A (p.Leu646Met)
n.109C>A
c.1756C>A (p.Leu586Met)
c.2011C>A (p.Leu671Met)
c.1573C>A (p.Leu525Met)
c.1873C>A (p.Leu625Met)
n.2324C>A
9g.104829096C>ACA466510802ABCA1c.1935G>T (p.Thr645=)
n.108G>T
c.1755G>T (p.Thr585=)
c.2010G>T (p.Thr670=)
c.1572G>T (p.Thr524=)
c.1872G>T (p.Thr624=)
n.2323G>T
9g.104829096C=CA1869920411ABCA1c.1935G= (p.Thr645=)
n.108G=
c.1755G= (p.Thr585=)
c.2010G= (p.Thr670=)
c.1572G= (p.Thr524=)
c.1872G= (p.Thr624=)
n.2323G=
9g.104829096C>GCA466510804ABCA1c.1935G>C (p.Thr645=)
n.108G>C
c.1755G>C (p.Thr585=)
c.2010G>C (p.Thr670=)
c.1572G>C (p.Thr524=)
c.1872G>C (p.Thr624=)
n.2323G>C
9g.104829096C>TCA5168861ABCA1c.1935G>A (p.Thr645=)
n.108G>A
c.1755G>A (p.Thr585=)
c.2010G>A (p.Thr670=)
c.1572G>A (p.Thr524=)
c.1872G>A (p.Thr624=)
n.2323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829097G>ACA5168862ABCA1c.1934C>T (p.Thr645Met)
n.107C>T
c.1754C>T (p.Thr585Met)
c.2009C>T (p.Thr670Met)
c.1571C>T (p.Thr524Met)
c.1871C>T (p.Thr624Met)
n.2322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829097G>CCA374322464ABCA1c.1934C>G (p.Thr645Arg)
n.107C>G
c.1754C>G (p.Thr585Arg)
c.2009C>G (p.Thr670Arg)
c.1571C>G (p.Thr524Arg)
c.1871C>G (p.Thr624Arg)
n.2322C>G
9g.104829097G=CA1869920415ABCA1c.1934C= (p.Thr645=)
n.107C=
c.1754C= (p.Thr585=)
c.2009C= (p.Thr670=)
c.1571C= (p.Thr524=)
c.1871C= (p.Thr624=)
n.2322C=
9g.104829097G>TCA374322466ABCA1c.1934C>A (p.Thr645Lys)
n.107C>A
c.1754C>A (p.Thr585Lys)
c.2009C>A (p.Thr670Lys)
c.1571C>A (p.Thr524Lys)
c.1871C>A (p.Thr624Lys)
n.2322C>A
9g.104829098T>ACA374322472ABCA1c.1933A>T (p.Thr645Ser)
n.106A>T
c.1753A>T (p.Thr585Ser)
c.2008A>T (p.Thr670Ser)
c.1570A>T (p.Thr524Ser)
c.1870A>T (p.Thr624Ser)
n.2321A>T
9g.104829098T>CCA374322469ABCA1c.1933A>G (p.Thr645Ala)
n.106A>G
c.1753A>G (p.Thr585Ala)
c.2008A>G (p.Thr670Ala)
c.1570A>G (p.Thr524Ala)
c.1870A>G (p.Thr624Ala)
n.2321A>G
9g.104829098T>GCA374322471ABCA1c.1933A>C (p.Thr645Pro)
n.106A>C
c.1753A>C (p.Thr585Pro)
c.2008A>C (p.Thr670Pro)
c.1570A>C (p.Thr524Pro)
c.1870A>C (p.Thr624Pro)
n.2321A>C
9g.104829099C>ACA374322475ABCA1c.1932G>T (p.Met644Ile)
n.105G>T
c.1752G>T (p.Met584Ile)
c.2007G>T (p.Met669Ile)
c.1569G>T (p.Met523Ile)
c.1869G>T (p.Met623Ile)
n.2320G>T
9g.104829099C>GCA374322477ABCA1c.1932G>C (p.Met644Ile)
n.105G>C
c.1752G>C (p.Met584Ile)
c.2007G>C (p.Met669Ile)
c.1569G>C (p.Met523Ile)
c.1869G>C (p.Met623Ile)
n.2320G>C
9g.104829099C>TCA374322480ABCA1c.1932G>A (p.Met644Ile)
n.105G>A
c.1752G>A (p.Met584Ile)
c.2007G>A (p.Met669Ile)
c.1569G>A (p.Met523Ile)
c.1869G>A (p.Met623Ile)
n.2320G>A
9g.104829100A>CCA374322483ABCA1c.1931T>G (p.Met644Arg)
n.104T>G
c.1751T>G (p.Met584Arg)
c.2006T>G (p.Met669Arg)
c.1568T>G (p.Met523Arg)
c.1868T>G (p.Met623Arg)
n.2319T>G
9g.104829100A>GCA374322485ABCA1c.1931T>C (p.Met644Thr)
n.104T>C
c.1751T>C (p.Met584Thr)
c.2006T>C (p.Met669Thr)
c.1568T>C (p.Met523Thr)
c.1868T>C (p.Met623Thr)
n.2319T>C
9g.104829100A>TCA374322487ABCA1c.1931T>A (p.Met644Lys)
n.104T>A
c.1751T>A (p.Met584Lys)
c.2006T>A (p.Met669Lys)
c.1568T>A (p.Met523Lys)
c.1868T>A (p.Met623Lys)
n.2319T>A
9g.104829101T>ACA374322489ABCA1c.1930A>T (p.Met644Leu)
n.103A>T
c.1750A>T (p.Met584Leu)
c.2005A>T (p.Met669Leu)
c.1567A>T (p.Met523Leu)
c.1867A>T (p.Met623Leu)
n.2318A>T
9g.104829101T>CCA374322492ABCA1c.1930A>G (p.Met644Val)
n.103A>G
c.1750A>G (p.Met584Val)
c.2005A>G (p.Met669Val)
c.1567A>G (p.Met523Val)
c.1867A>G (p.Met623Val)
n.2318A>G
 dbSNP gnomAD v4
9g.104829101T>GCA5168863ABCA1c.1930A>C (p.Met644Leu)
n.103A>C
c.1750A>C (p.Met584Leu)
c.2005A>C (p.Met669Leu)
c.1567A>C (p.Met523Leu)
c.1867A>C (p.Met623Leu)
n.2318A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829101T=CA1869920422ABCA1c.1930A= (p.Met644=)
n.103A=
c.1750A= (p.Met584=)
c.2005A= (p.Met669=)
c.1567A= (p.Met523=)
c.1867A= (p.Met623=)
n.2318A=
9g.104829102G>ACA466510829ABCA1c.1929C>T (p.Phe643=)
n.102C>T
c.1749C>T (p.Phe583=)
c.2004C>T (p.Phe668=)
c.1566C>T (p.Phe522=)
c.1866C>T (p.Phe622=)
n.2317C>T
9g.104829102G>CCA374322495ABCA1c.1929C>G (p.Phe643Leu)
n.102C>G
c.1749C>G (p.Phe583Leu)
c.2004C>G (p.Phe668Leu)
c.1566C>G (p.Phe522Leu)
c.1866C>G (p.Phe622Leu)
n.2317C>G
9g.104829102G>TCA374322497ABCA1c.1929C>A (p.Phe643Leu)
n.102C>A
c.1749C>A (p.Phe583Leu)
c.2004C>A (p.Phe668Leu)
c.1566C>A (p.Phe522Leu)
c.1866C>A (p.Phe622Leu)
n.2317C>A
9g.104829103A>CCA374322505ABCA1c.1928T>G (p.Phe643Cys)
n.101T>G
c.1748T>G (p.Phe583Cys)
c.2003T>G (p.Phe668Cys)
c.1565T>G (p.Phe522Cys)
c.1865T>G (p.Phe622Cys)
n.2316T>G
9g.104829103A>GCA374322503ABCA1c.1928T>C (p.Phe643Ser)
n.101T>C
c.1748T>C (p.Phe583Ser)
c.2003T>C (p.Phe668Ser)
c.1565T>C (p.Phe522Ser)
c.1865T>C (p.Phe622Ser)
n.2316T>C
9g.104829103A>TCA374322501ABCA1c.1928T>A (p.Phe643Tyr)
n.101T>A
c.1748T>A (p.Phe583Tyr)
c.2003T>A (p.Phe668Tyr)
c.1565T>A (p.Phe522Tyr)
c.1865T>A (p.Phe622Tyr)
n.2316T>A
9g.104829104A=CA1869920428ABCA1c.1927T= (p.Phe643=)
n.100T=
c.1747T= (p.Phe583=)
c.2002T= (p.Phe668=)
c.1564T= (p.Phe522=)
c.1864T= (p.Phe622=)
n.2315T=
9g.104829104A>CCA374322508ABCA1c.1927T>G (p.Phe643Val)
n.100T>G
c.1747T>G (p.Phe583Val)
c.2002T>G (p.Phe668Val)
c.1564T>G (p.Phe522Val)
c.1864T>G (p.Phe622Val)
n.2315T>G
9g.104829104A>GCA374322511ABCA1c.1927T>C (p.Phe643Leu)
n.100T>C
c.1747T>C (p.Phe583Leu)
c.2002T>C (p.Phe668Leu)
c.1564T>C (p.Phe522Leu)
c.1864T>C (p.Phe622Leu)
n.2315T>C
 dbSNP gnomAD v3 gnomAD v4
9g.104829104A>TCA5168864ABCA1c.1927T>A (p.Phe643Ile)
n.100T>A
c.1747T>A (p.Phe583Ile)
c.2002T>A (p.Phe668Ile)
c.1564T>A (p.Phe522Ile)
c.1864T>A (p.Phe622Ile)
n.2315T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829105G>ACA466510843ABCA1c.1926C>T (p.Leu642=)
n.99C>T
c.1746C>T (p.Leu582=)
c.2001C>T (p.Leu667=)
c.1563C>T (p.Leu521=)
c.1863C>T (p.Leu621=)
n.2314C>T
 dbSNP gnomAD v4
9g.104829105G>CCA466510845ABCA1c.1926C>G (p.Leu642=)
n.99C>G
c.1746C>G (p.Leu582=)
c.2001C>G (p.Leu667=)
c.1563C>G (p.Leu521=)
c.1863C>G (p.Leu621=)
n.2314C>G
9g.104829105G=CA1869920440ABCA1c.1926C= (p.Leu642=)
n.99C=
c.1746C= (p.Leu582=)
c.2001C= (p.Leu667=)
c.1563C= (p.Leu521=)
c.1863C= (p.Leu621=)
n.2314C=
9g.104829105G>TCA466510848ABCA1c.1926C>A (p.Leu642=)
n.99C>A
c.1746C>A (p.Leu582=)
c.2001C>A (p.Leu667=)
c.1563C>A (p.Leu521=)
c.1863C>A (p.Leu621=)
n.2314C>A
9g.104829106A>CCA374322514ABCA1c.1925T>G (p.Leu642Arg)
n.98T>G
c.1745T>G (p.Leu582Arg)
c.2000T>G (p.Leu667Arg)
c.1562T>G (p.Leu521Arg)
c.1862T>G (p.Leu621Arg)
n.2313T>G
 gnomAD v4
9g.104829106A>GCA374322518ABCA1c.1925T>C (p.Leu642Pro)
n.98T>C
c.1745T>C (p.Leu582Pro)
c.2000T>C (p.Leu667Pro)
c.1562T>C (p.Leu521Pro)
c.1862T>C (p.Leu621Pro)
n.2313T>C
9g.104829106A>TCA374322516ABCA1c.1925T>A (p.Leu642His)
n.98T>A
c.1745T>A (p.Leu582His)
c.2000T>A (p.Leu667His)
c.1562T>A (p.Leu521His)
c.1862T>A (p.Leu621His)
n.2313T>A
9g.104829107G>ACA374322520ABCA1c.1924C>T (p.Leu642Phe)
n.97C>T
c.1744C>T (p.Leu582Phe)
c.1999C>T (p.Leu667Phe)
c.1561C>T (p.Leu521Phe)
c.1861C>T (p.Leu621Phe)
n.2312C>T
 COSMIC
9g.104829107G>CCA374322522ABCA1c.1924C>G (p.Leu642Val)
n.97C>G
c.1744C>G (p.Leu582Val)
c.1999C>G (p.Leu667Val)
c.1561C>G (p.Leu521Val)
c.1861C>G (p.Leu621Val)
n.2312C>G
 gnomAD v4
9g.104829107G>TCA374322524ABCA1c.1924C>A (p.Leu642Ile)
n.97C>A
c.1744C>A (p.Leu582Ile)
c.1999C>A (p.Leu667Ile)
c.1561C>A (p.Leu521Ile)
c.1861C>A (p.Leu621Ile)
n.2312C>A
9g.104829108G>ACA197395155ABCA1c.1923C>T (p.Pro641=)
n.96C>T
c.1743C>T (p.Pro581=)
c.1998C>T (p.Pro666=)
c.1560C>T (p.Pro520=)
c.1860C>T (p.Pro620=)
n.2311C>T
 dbSNP gnomAD v4
9g.104829108G>CCA466510860ABCA1c.1923C>G (p.Pro641=)
n.96C>G
c.1743C>G (p.Pro581=)
c.1998C>G (p.Pro666=)
c.1560C>G (p.Pro520=)
c.1860C>G (p.Pro620=)
n.2311C>G
9g.104829108G=CA1869920447ABCA1c.1923C= (p.Pro641=)
n.96C=
c.1743C= (p.Pro581=)
c.1998C= (p.Pro666=)
c.1560C= (p.Pro520=)
c.1860C= (p.Pro620=)
n.2311C=
9g.104829108G>TCA466510862ABCA1c.1923C>A (p.Pro641=)
n.96C>A
c.1743C>A (p.Pro581=)
c.1998C>A (p.Pro666=)
c.1560C>A (p.Pro520=)
c.1860C>A (p.Pro620=)
n.2311C>A
 dbSNP
9g.104829109G>ACA197395172ABCA1c.1922C>T (p.Pro641Leu)
n.95C>T
c.1742C>T (p.Pro581Leu)
c.1997C>T (p.Pro666Leu)
c.1559C>T (p.Pro520Leu)
c.1859C>T (p.Pro620Leu)
n.2310C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829109G>CCA374322529ABCA1c.1922C>G (p.Pro641Arg)
n.95C>G
c.1742C>G (p.Pro581Arg)
c.1997C>G (p.Pro666Arg)
c.1559C>G (p.Pro520Arg)
c.1859C>G (p.Pro620Arg)
n.2310C>G
9g.104829109G=CA1869920456ABCA1c.1922C= (p.Pro641=)
n.95C=
c.1742C= (p.Pro581=)
c.1997C= (p.Pro666=)
c.1559C= (p.Pro520=)
c.1859C= (p.Pro620=)
n.2310C=
9g.104829109G>TCA374322531ABCA1c.1922C>A (p.Pro641His)
n.95C>A
c.1742C>A (p.Pro581His)
c.1997C>A (p.Pro666His)
c.1559C>A (p.Pro520His)
c.1859C>A (p.Pro620His)
n.2310C>A
9g.104829110G>ACA374322534ABCA1c.1921C>T (p.Pro641Ser)
n.94C>T
c.1741C>T (p.Pro581Ser)
c.1996C>T (p.Pro666Ser)
c.1558C>T (p.Pro520Ser)
c.1858C>T (p.Pro620Ser)
n.2309C>T
9g.104829110G>CCA374322535ABCA1c.1921C>G (p.Pro641Ala)
n.94C>G
c.1741C>G (p.Pro581Ala)
c.1996C>G (p.Pro666Ala)
c.1558C>G (p.Pro520Ala)
c.1858C>G (p.Pro620Ala)
n.2309C>G
9g.104829110G>TCA374322537ABCA1c.1921C>A (p.Pro641Thr)
n.94C>A
c.1741C>A (p.Pro581Thr)
c.1996C>A (p.Pro666Thr)
c.1558C>A (p.Pro520Thr)
c.1858C>A (p.Pro620Thr)
n.2309C>A
9g.104829111C>ACA374322540ABCA1c.1920G>T (p.Met640Ile)
n.93G>T
c.1740G>T (p.Met580Ile)
c.1995G>T (p.Met665Ile)
c.1557G>T (p.Met519Ile)
c.1857G>T (p.Met619Ile)
n.2308G>T
9g.104829111C>GCA374322542ABCA1c.1920G>C (p.Met640Ile)
n.93G>C
c.1740G>C (p.Met580Ile)
c.1995G>C (p.Met665Ile)
c.1557G>C (p.Met519Ile)
c.1857G>C (p.Met619Ile)
n.2308G>C
9g.104829111C>TCA374322544ABCA1c.1920G>A (p.Met640Ile)
n.93G>A
c.1740G>A (p.Met580Ile)
c.1995G>A (p.Met665Ile)
c.1557G>A (p.Met519Ile)
c.1857G>A (p.Met619Ile)
n.2308G>A
9g.104829112A>CCA374322547ABCA1c.1919T>G (p.Met640Arg)
n.92T>G
c.1739T>G (p.Met580Arg)
c.1994T>G (p.Met665Arg)
c.1556T>G (p.Met519Arg)
c.1856T>G (p.Met619Arg)
n.2307T>G
9g.104829112A>GCA374322550ABCA1c.1919T>C (p.Met640Thr)
n.92T>C
c.1739T>C (p.Met580Thr)
c.1994T>C (p.Met665Thr)
c.1556T>C (p.Met519Thr)
c.1856T>C (p.Met619Thr)
n.2307T>C
9g.104829112A>TCA374322548ABCA1c.1919T>A (p.Met640Lys)
n.92T>A
c.1739T>A (p.Met580Lys)
c.1994T>A (p.Met665Lys)
c.1556T>A (p.Met519Lys)
c.1856T>A (p.Met619Lys)
n.2307T>A
9g.104829113T>ACA374322553ABCA1c.1918A>T (p.Met640Leu)
n.91A>T
c.1738A>T (p.Met580Leu)
c.1993A>T (p.Met665Leu)
c.1555A>T (p.Met519Leu)
c.1855A>T (p.Met619Leu)
n.2306A>T
9g.104829113T>CCA5168865ABCA1c.1918A>G (p.Met640Val)
n.91A>G
c.1738A>G (p.Met580Val)
c.1993A>G (p.Met665Val)
c.1555A>G (p.Met519Val)
c.1855A>G (p.Met619Val)
n.2306A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829113T>GCA374322557ABCA1c.1918A>C (p.Met640Leu)
n.91A>C
c.1738A>C (p.Met580Leu)
c.1993A>C (p.Met665Leu)
c.1555A>C (p.Met519Leu)
c.1855A>C (p.Met619Leu)
n.2306A>C
9g.104829113T=CA1869920459ABCA1c.1918A= (p.Met640=)
n.91A=
c.1738A= (p.Met580=)
c.1993A= (p.Met665=)
c.1555A= (p.Met519=)
c.1855A= (p.Met619=)
n.2306A=
9g.104829114T>ACA466510887ABCA1c.1917A>T (p.Ser639=)
n.90A>T
c.1737A>T (p.Ser579=)
c.1992A>T (p.Ser664=)
c.1554A>T (p.Ser518=)
c.1854A>T (p.Ser618=)
n.2305A>T
9g.104829114T>CCA466510889ABCA1c.1917A>G (p.Ser639=)
n.90A>G
c.1737A>G (p.Ser579=)
c.1992A>G (p.Ser664=)
c.1554A>G (p.Ser518=)
c.1854A>G (p.Ser618=)
n.2305A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829114T>GCA466510891ABCA1c.1917A>C (p.Ser639=)
n.90A>C
c.1737A>C (p.Ser579=)
c.1992A>C (p.Ser664=)
c.1554A>C (p.Ser518=)
c.1854A>C (p.Ser618=)
n.2305A>C
 ClinVar dbSNP
9g.104829114T=CA1869920465ABCA1c.1917A= (p.Ser639=)
n.90A=
c.1737A= (p.Ser579=)
c.1992A= (p.Ser664=)
c.1554A= (p.Ser518=)
c.1854A= (p.Ser618=)
n.2305A=
9g.104829115G>ACA374322559ABCA1c.1916C>T (p.Ser639Leu)
n.89C>T
c.1736C>T (p.Ser579Leu)
c.1991C>T (p.Ser664Leu)
c.1553C>T (p.Ser518Leu)
c.1853C>T (p.Ser618Leu)
n.2304C>T
 gnomAD v4
9g.104829115G>CCA374322561ABCA1c.1916C>G (p.Ser639Ter)
n.89C>G
c.1736C>G (p.Ser579Ter)
c.1991C>G (p.Ser664Ter)
c.1553C>G (p.Ser518Ter)
c.1853C>G (p.Ser618Ter)
n.2304C>G
9g.104829115G>TCA374322563ABCA1c.1916C>A (p.Ser639Ter)
n.89C>A
c.1736C>A (p.Ser579Ter)
c.1991C>A (p.Ser664Ter)
c.1553C>A (p.Ser518Ter)
c.1853C>A (p.Ser618Ter)
n.2304C>A
9g.104829116A>CCA374322566ABCA1c.1915T>G (p.Ser639Ala)
n.88T>G
c.1735T>G (p.Ser579Ala)
c.1990T>G (p.Ser664Ala)
c.1552T>G (p.Ser518Ala)
c.1852T>G (p.Ser618Ala)
n.2303T>G
9g.104829116A>GCA374322567ABCA1c.1915T>C (p.Ser639Pro)
n.88T>C
c.1735T>C (p.Ser579Pro)
c.1990T>C (p.Ser664Pro)
c.1552T>C (p.Ser518Pro)
c.1852T>C (p.Ser618Pro)
n.2303T>C
9g.104829116A>TCA374322568ABCA1c.1915T>A (p.Ser639Thr)
n.88T>A
c.1735T>A (p.Ser579Thr)
c.1990T>A (p.Ser664Thr)
c.1552T>A (p.Ser518Thr)
c.1852T>A (p.Ser618Thr)
n.2303T>A
9g.104829116_104829117delinsACCA1869920472ABCA1c.1914_1915delinsGT (p.Arg638=)
n.87_88delinsGT
c.1734_1735delinsGT (p.Arg578=)
c.1989_1990delinsGT (p.Arg663=)
c.1551_1552delinsGT (p.Arg517=)
c.1851_1852delinsGT (p.Arg617=)
n.2302_2303delinsGT
9g.104829117C>ACA466510903ABCA1c.1914G>T (p.Arg638=)
n.87G>T
c.1734G>T (p.Arg578=)
c.1989G>T (p.Arg663=)
c.1551G>T (p.Arg517=)
c.1851G>T (p.Arg617=)
n.2302G>T
 gnomAD v4
9g.104829117C>GCA466510905ABCA1c.1914G>C (p.Arg638=)
n.87G>C
c.1734G>C (p.Arg578=)
c.1989G>C (p.Arg663=)
c.1551G>C (p.Arg517=)
c.1851G>C (p.Arg617=)
n.2302G>C
9g.104829117C>TCA466510907ABCA1c.1914G>A (p.Arg638=)
n.87G>A
c.1734G>A (p.Arg578=)
c.1989G>A (p.Arg663=)
c.1551G>A (p.Arg517=)
c.1851G>A (p.Arg617=)
n.2302G>A
 gnomAD v4
9g.104829118delCA1869920474ABCA1c.1914del (p.Ser639GlnfsTer6)
n.87del
c.1734del (p.Ser579GlnfsTer6)
c.1989del (p.Ser664GlnfsTer6)
c.1551del (p.Ser518GlnfsTer6)
c.1851del (p.Ser618GlnfsTer6)
n.2302del
 dbSNP
9g.104829118C>ACA374322575ABCA1c.1913G>T (p.Arg638Leu)
n.86G>T
c.1733G>T (p.Arg578Leu)
c.1988G>T (p.Arg663Leu)
c.1550G>T (p.Arg517Leu)
c.1850G>T (p.Arg617Leu)
n.2301G>T
9g.104829118C=CA1869920479ABCA1c.1913G= (p.Arg638=)
n.86G=
c.1733G= (p.Arg578=)
c.1988G= (p.Arg663=)
c.1550G= (p.Arg517=)
c.1850G= (p.Arg617=)
n.2301G=
9g.104829118C>GCA374322573ABCA1c.1913G>C (p.Arg638Pro)
n.86G>C
c.1733G>C (p.Arg578Pro)
c.1988G>C (p.Arg663Pro)
c.1550G>C (p.Arg517Pro)
c.1850G>C (p.Arg617Pro)
n.2301G>C
 gnomAD v4
9g.104829118C>TCA5168866ABCA1c.1913G>A (p.Arg638Gln)
n.86G>A
c.1733G>A (p.Arg578Gln)
c.1988G>A (p.Arg663Gln)
c.1550G>A (p.Arg517Gln)
c.1850G>A (p.Arg617Gln)
n.2301G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829119G>ACA5168867ABCA1c.1912C>T (p.Arg638Trp)
n.85C>T
c.1732C>T (p.Arg578Trp)
c.1987C>T (p.Arg663Trp)
c.1549C>T (p.Arg517Trp)
c.1849C>T (p.Arg617Trp)
n.2300C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829119G>CCA374322578ABCA1c.1912C>G (p.Arg638Gly)
n.85C>G
c.1732C>G (p.Arg578Gly)
c.1987C>G (p.Arg663Gly)
c.1549C>G (p.Arg517Gly)
c.1849C>G (p.Arg617Gly)
n.2300C>G
9g.104829119G=CA1869920488ABCA1c.1912C= (p.Arg638=)
n.85C=
c.1732C= (p.Arg578=)
c.1987C= (p.Arg663=)
c.1549C= (p.Arg517=)
c.1849C= (p.Arg617=)
n.2300C=
9g.104829119G>TCA466510919ABCA1c.1912C>A (p.Arg638=)
n.85C>A
c.1732C>A (p.Arg578=)
c.1987C>A (p.Arg663=)
c.1549C>A (p.Arg517=)
c.1849C>A (p.Arg617=)
n.2300C>A
9g.104829120G>ACA466510921ABCA1c.1911C>T (p.Ser637=)
n.84C>T
c.1731C>T (p.Ser577=)
c.1986C>T (p.Ser662=)
c.1548C>T (p.Ser516=)
c.1848C>T (p.Ser616=)
n.2299C>T
9g.104829120G>CCA374322581ABCA1c.1911C>G (p.Ser637Arg)
n.84C>G
c.1731C>G (p.Ser577Arg)
c.1986C>G (p.Ser662Arg)
c.1548C>G (p.Ser516Arg)
c.1848C>G (p.Ser616Arg)
n.2299C>G
9g.104829120G>TCA374322582ABCA1c.1911C>A (p.Ser637Arg)
n.84C>A
c.1731C>A (p.Ser577Arg)
c.1986C>A (p.Ser662Arg)
c.1548C>A (p.Ser516Arg)
c.1848C>A (p.Ser616Arg)
n.2299C>A
9g.104829121C>ACA374322584ABCA1c.1910G>T (p.Ser637Ile)
n.83G>T
c.1730G>T (p.Ser577Ile)
c.1985G>T (p.Ser662Ile)
c.1547G>T (p.Ser516Ile)
c.1847G>T (p.Ser616Ile)
n.2298G>T
 COSMIC
9g.104829121C>GCA374322586ABCA1c.1910G>C (p.Ser637Thr)
n.83G>C
c.1730G>C (p.Ser577Thr)
c.1985G>C (p.Ser662Thr)
c.1547G>C (p.Ser516Thr)
c.1847G>C (p.Ser616Thr)
n.2298G>C
9g.104829121C>TCA374322588ABCA1c.1910G>A (p.Ser637Asn)
n.83G>A
c.1730G>A (p.Ser577Asn)
c.1985G>A (p.Ser662Asn)
c.1547G>A (p.Ser516Asn)
c.1847G>A (p.Ser616Asn)
n.2298G>A
9g.104829122T>ACA374322591ABCA1c.1909A>T (p.Ser637Cys)
n.82A>T
c.1729A>T (p.Ser577Cys)
c.1984A>T (p.Ser662Cys)
c.1546A>T (p.Ser516Cys)
c.1846A>T (p.Ser616Cys)
n.2297A>T
9g.104829122T>CCA374322592ABCA1c.1909A>G (p.Ser637Gly)
n.82A>G
c.1729A>G (p.Ser577Gly)
c.1984A>G (p.Ser662Gly)
c.1546A>G (p.Ser516Gly)
c.1846A>G (p.Ser616Gly)
n.2297A>G
9g.104829122T>GCA374322594ABCA1c.1909A>C (p.Ser637Arg)
n.82A>C
c.1729A>C (p.Ser577Arg)
c.1984A>C (p.Ser662Arg)
c.1546A>C (p.Ser516Arg)
c.1846A>C (p.Ser616Arg)
n.2297A>C
9g.104829123C>ACA374322596ABCA1c.1908G>T (p.Met636Ile)
n.81G>T
c.1728G>T (p.Met576Ile)
c.1983G>T (p.Met661Ile)
c.1545G>T (p.Met515Ile)
c.1845G>T (p.Met615Ile)
n.2296G>T
9g.104829123C=CA1869920495ABCA1c.1908G= (p.Met636=)
n.81G=
c.1728G= (p.Met576=)
c.1983G= (p.Met661=)
c.1545G= (p.Met515=)
c.1845G= (p.Met615=)
n.2296G=
9g.104829123C>GCA374322598ABCA1c.1908G>C (p.Met636Ile)
n.81G>C
c.1728G>C (p.Met576Ile)
c.1983G>C (p.Met661Ile)
c.1545G>C (p.Met515Ile)
c.1845G>C (p.Met615Ile)
n.2296G>C
9g.104829123C>TCA374322600ABCA1c.1908G>A (p.Met636Ile)
n.81G>A
c.1728G>A (p.Met576Ile)
c.1983G>A (p.Met661Ile)
c.1545G>A (p.Met515Ile)
c.1845G>A (p.Met615Ile)
n.2296G>A
 dbSNP gnomAD v4

Number of alleles fetched