Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104829026C>A | CA374322246 | ABCA1 | c.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 | |
9 | g.104829026C= | CA1869920227 | ABCA1 | c.2005G= (p.Glu669=) n.178G= c.1825G= (p.Glu609=) c.2080G= (p.Glu694=) c.1642G= (p.Glu548=) c.1942G= (p.Glu648=) n.2393G= | |
9 | g.104829026C>G | CA374322247 | ABCA1 | c.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 |
9 | g.104829026C>T | CA374322248 | ABCA1 | c.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 | |
9 | g.104829027T>A | CA374322249 | ABCA1 | c.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 | |
9 | g.104829027T>C | CA466510470 | ABCA1 | c.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 | |
9 | g.104829027T>G | CA374322250 | ABCA1 | c.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 | |
9 | g.104829028T>A | CA374322251 | ABCA1 | c.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 | |
9 | g.104829028T>C | CA374322252 | ABCA1 | c.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 | |
9 | g.104829028T>G | CA374322253 | ABCA1 | c.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 | |
9 | g.104829029T>A | CA374322256 | ABCA1 | c.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 | |
9 | g.104829029T>C | CA374322255 | ABCA1 | c.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 | |
9 | g.104829029T>G | CA374322254 | ABCA1 | c.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 | |
9 | g.104829030C>A | CA466510484 | ABCA1 | c.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 | |
9 | g.104829030C= | CA1869920229 | ABCA1 | c.2001G= (p.Leu667=) n.174G= c.1821G= (p.Leu607=) c.2076G= (p.Leu692=) c.1638G= (p.Leu546=) c.1938G= (p.Leu646=) n.2389G= | |
9 | g.104829030C>G | CA466510482 | ABCA1 | c.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 |
9 | g.104829030C>T | CA466510480 | ABCA1 | c.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 |
9 | g.104829031A>C | CA374322257 | ABCA1 | c.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 | |
9 | g.104829031A>G | CA374322258 | ABCA1 | c.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 | |
9 | g.104829031A>T | CA374322259 | ABCA1 | c.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 | |
9 | g.104829032G>A | CA466510489 | ABCA1 | c.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 | |
9 | g.104829032G>C | CA374322260 | ABCA1 | c.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 | |
9 | g.104829032G>T | CA374322261 | ABCA1 | c.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 |
9 | g.104829033C>A | CA466510494 | ABCA1 | c.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 | |
9 | g.104829033C>G | CA466510496 | ABCA1 | c.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 | |
9 | g.104829033C>T | CA466510498 | ABCA1 | c.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 |
9 | g.104829034dup | CA2691056106 | ABCA1 | c.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 |
9 | g.104829034C>A | CA374322262 | ABCA1 | c.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 | |
9 | g.104829034C= | CA1869920230 | ABCA1 | c.1997G= (p.Arg666=) n.170G= c.1817G= (p.Arg606=) c.2072G= (p.Arg691=) c.1634G= (p.Arg545=) c.1934G= (p.Arg645=) n.2385G= | |
9 | g.104829034C>G | CA374322263 | ABCA1 | c.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 | |
9 | g.104829034C>T | CA5168845 | ABCA1 | c.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 |
9 | g.104829035G>A | CA5168846 | ABCA1 | c.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 |
9 | g.104829035G>C | CA374322264 | ABCA1 | c.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 | |
9 | g.104829035G= | CA1869920231 | ABCA1 | c.1996C= (p.Arg666=) n.169C= c.1816C= (p.Arg606=) c.2071C= (p.Arg691=) c.1633C= (p.Arg545=) c.1933C= (p.Arg645=) n.2384C= | |
9 | g.104829035G>T | CA197395053 | ABCA1 | c.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 |
9 | g.104829036T>A | CA466510509 | ABCA1 | c.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 | |
9 | g.104829036T>C | CA197395056 | ABCA1 | c.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 |
9 | g.104829036T>G | CA466510511 | ABCA1 | c.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 | |
9 | g.104829036T= | CA1869920239 | ABCA1 | c.1995A= (p.Ala665=) n.168A= c.1815A= (p.Ala605=) c.2070A= (p.Ala690=) c.1632A= (p.Ala544=) c.1932A= (p.Ala644=) n.2383A= | |
9 | g.104829037G>A | CA5168847 | ABCA1 | c.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 |
9 | g.104829037G>C | CA374322265 | ABCA1 | c.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 |
9 | g.104829037G= | CA1869920241 | ABCA1 | c.1994C= (p.Ala665=) n.167C= c.1814C= (p.Ala605=) c.2069C= (p.Ala690=) c.1631C= (p.Ala544=) c.1931C= (p.Ala644=) n.2382C= | |
9 | g.104829037G>T | CA374322266 | ABCA1 | c.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 | |
9 | g.104829038C>A | CA374322268 | ABCA1 | c.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 |
9 | g.104829038C= | CA1869920248 | ABCA1 | c.1993G= (p.Ala665=) n.166G= c.1813G= (p.Ala605=) c.2068G= (p.Ala690=) c.1630G= (p.Ala544=) c.1930G= (p.Ala644=) n.2381G= | |
9 | g.104829038C>G | CA374322269 | ABCA1 | c.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 | |
9 | g.104829038C>T | CA374322267 | ABCA1 | c.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 | |
9 | g.104829039C>A | CA374322270 | ABCA1 | c.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 | |
9 | g.104829039C= | CA1869920272 | ABCA1 | c.1992G= (p.Glu664=) n.165G= c.1812G= (p.Glu604=) c.2067G= (p.Glu689=) c.1629G= (p.Glu543=) c.1929G= (p.Glu643=) n.2380G= | |
9 | g.104829039C>G | CA374322271 | ABCA1 | c.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 | |
9 | g.104829039C>T | CA5168848 | ABCA1 | c.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 |
9 | g.104829040T>A | CA374322272 | ABCA1 | c.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 | |
9 | g.104829040T>C | CA374322273 | ABCA1 | c.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 | |
9 | g.104829040T>G | CA374322274 | ABCA1 | c.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 | |
9 | g.104829041C>A | CA374322275 | ABCA1 | c.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 | |
9 | g.104829041C>G | CA374322276 | ABCA1 | c.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 | |
9 | g.104829041C>T | CA374322277 | ABCA1 | c.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 | |
9 | g.104829042C>A | CA374322278 | ABCA1 | c.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 |
9 | g.104829042C>G | CA374322279 | ABCA1 | c.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 | |
9 | g.104829042C>T | CA466510537 | ABCA1 | c.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 |
9 | g.104829043T>A | CA374322282 | ABCA1 | c.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 | |
9 | g.104829043T>C | CA374322281 | ABCA1 | c.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 | |
9 | g.104829043T>G | CA374322280 | ABCA1 | c.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 | |
9 | g.104829044T>A | CA374322283 | ABCA1 | c.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 | |
9 | g.104829044T>C | CA197395067 | ABCA1 | c.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 |
9 | g.104829044T>G | CA374322284 | ABCA1 | c.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 | |
9 | g.104829044T= | CA1869920278 | ABCA1 | c.1987A= (p.Lys663=) n.160A= c.1807A= (p.Lys603=) c.2062A= (p.Lys688=) c.1624A= (p.Lys542=) c.1924A= (p.Lys642=) n.2375A= | |
9 | g.104829045C>A | CA374322285 | ABCA1 | c.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 | |
9 | g.104829045C>G | CA374322286 | ABCA1 | c.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 | |
9 | g.104829045C>T | CA466510554 | ABCA1 | c.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 | |
9 | g.104829046T>A | CA374322287 | ABCA1 | c.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 |
9 | g.104829046T>C | CA374322288 | ABCA1 | c.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 | |
9 | g.104829046T>G | CA374322289 | ABCA1 | c.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 | |
9 | g.104829046T= | CA1869920279 | ABCA1 | c.1985A= (p.Glu662=) n.158A= c.1805A= (p.Glu602=) c.2060A= (p.Glu687=) c.1622A= (p.Glu541=) c.1922A= (p.Glu641=) n.2373A= | |
9 | g.104829047C>A | CA374322290 | ABCA1 | c.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 |
9 | g.104829047C>G | CA374322291 | ABCA1 | c.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 | |
9 | g.104829047C>T | CA374322292 | ABCA1 | c.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 | |
9 | g.104829048A= | CA1869920281 | ABCA1 | c.1983T= (p.Tyr661=) n.156T= c.1803T= (p.Tyr601=) c.2058T= (p.Tyr686=) c.1620T= (p.Tyr540=) c.1920T= (p.Tyr640=) n.2371T= | |
9 | g.104829048A>C | CA374322293 | ABCA1 | c.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 |
9 | g.104829048A>G | CA466510565 | ABCA1 | c.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 |
9 | g.104829048A>T | CA374322294 | ABCA1 | c.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 | |
9 | g.104829049T>A | CA374322296 | ABCA1 | c.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 | |
9 | g.104829049T>C | CA374322297 | ABCA1 | c.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 |
9 | g.104829049T>G | CA374322295 | ABCA1 | c.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 | |
9 | g.104829050A= | CA1869920284 | ABCA1 | c.1981T= (p.Tyr661=) n.154T= c.1801T= (p.Tyr601=) c.2056T= (p.Tyr686=) c.1618T= (p.Tyr540=) c.1918T= (p.Tyr640=) n.2369T= | |
9 | g.104829050A>C | CA374322299 | ABCA1 | c.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 |
9 | g.104829050A>G | CA374322298 | ABCA1 | c.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 | |
9 | g.104829050A>T | CA374322300 | ABCA1 | c.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 | |
9 | g.104829051C>A | CA466510579 | ABCA1 | c.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 | |
9 | g.104829051C= | CA1869920286 | ABCA1 | c.1980G= (p.Val660=) n.153G= c.1800G= (p.Val600=) c.2055G= (p.Val685=) c.1617G= (p.Val539=) c.1917G= (p.Val639=) n.2368G= | |
9 | g.104829051C>G | CA466510575 | ABCA1 | c.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 | |
9 | g.104829051C>T | CA466510577 | ABCA1 | c.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 |
9 | g.104829051_104829052delinsCA | CA1869920285 | ABCA1 | c.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 | |
9 | g.104829052del | CA197395069 | ABCA1 | c.1979del (p.Val660GlyfsTer8) n.152del c.1799del (p.Val600GlyfsTer8) c.2054del (p.Val685GlyfsTer8) c.1616del (p.Val539GlyfsTer8) c.1916del (p.Val639GlyfsTer8) n.2367del | dbSNP |
9 | g.104829052A>C | CA374322301 | ABCA1 | c.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 | |
9 | g.104829052A>G | CA374322303 | ABCA1 | c.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 | |
9 | g.104829052A>T | CA374322302 | ABCA1 | c.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 | |
9 | g.104829053C>A | CA5168850 | ABCA1 | c.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 |
9 | g.104829053C= | CA1869920291 | ABCA1 | c.1978G= (p.Val660=) n.151G= c.1798G= (p.Val600=) c.2053G= (p.Val685=) c.1615G= (p.Val539=) c.1915G= (p.Val639=) n.2366G= | |
9 | g.104829053C>G | CA374322304 | ABCA1 | c.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 |
9 | g.104829053C>T | CA5168849 | ABCA1 | c.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 |
9 | g.104829054G>A | CA5168851 | ABCA1 | c.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 |
9 | g.104829054G>C | CA374322305 | ABCA1 | c.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 | |
9 | g.104829054G= | CA1869920297 | ABCA1 | c.1977C= (p.Ile659=) n.150C= c.1797C= (p.Ile599=) c.2052C= (p.Ile684=) c.1614C= (p.Ile538=) c.1914C= (p.Ile638=) n.2365C= | |
9 | g.104829054G>T | CA466510595 | ABCA1 | c.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 |
9 | g.104829055A= | CA1869920302 | ABCA1 | c.1976T= (p.Ile659=) n.149T= c.1796T= (p.Ile599=) c.2051T= (p.Ile684=) c.1613T= (p.Ile538=) c.1913T= (p.Ile638=) n.2364T= | |
9 | g.104829055A>C | CA374322308 | ABCA1 | c.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 | |
9 | g.104829055A>G | CA374322307 | ABCA1 | c.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 |
9 | g.104829055A>T | CA374322306 | ABCA1 | c.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 | |
9 | g.104829056T>A | CA374322309 | ABCA1 | c.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 |
9 | g.104829056T>C | CA374322310 | ABCA1 | c.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 |
9 | g.104829056T>G | CA374322311 | ABCA1 | c.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 |
9 | g.104829057G>A | CA466510606 | ABCA1 | c.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 | |
9 | g.104829057G>C | CA466510609 | ABCA1 | c.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 | |
9 | g.104829057G>T | CA466510610 | ABCA1 | c.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 | |
9 | g.104829058C>A | CA5168853 | ABCA1 | c.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 |
9 | g.104829058C= | CA1869920316 | ABCA1 | c.1973G= (p.Gly658=) n.146G= c.1793G= (p.Gly598=) c.2048G= (p.Gly683=) c.1610G= (p.Gly537=) c.1910G= (p.Gly637=) n.2361G= | |
9 | g.104829058C>G | CA5168852 | ABCA1 | c.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 |
9 | g.104829058C>T | CA374322312 | ABCA1 | c.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 | |
9 | g.104829059C>A | CA374322315 | ABCA1 | c.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 | |
9 | g.104829059C= | CA1869920321 | ABCA1 | c.1972G= (p.Gly658=) n.145G= c.1792G= (p.Gly598=) c.2047G= (p.Gly683=) c.1609G= (p.Gly537=) c.1909G= (p.Gly637=) n.2360G= | |
9 | g.104829059C>G | CA374322313 | ABCA1 | c.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 | |
9 | g.104829059C>T | CA374322314 | ABCA1 | c.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 |
9 | g.104829060C>A | CA374322316 | ABCA1 | c.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 | |
9 | g.104829060C>G | CA374322317 | ABCA1 | c.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 | |
9 | g.104829060C>T | CA466510624 | ABCA1 | c.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 | |
9 | g.104829061T>A | CA374322318 | ABCA1 | c.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 | |
9 | g.104829061T>C | CA374322319 | ABCA1 | c.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 |
9 | g.104829061T>G | CA374322320 | ABCA1 | c.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 | |
9 | g.104829062T>A | CA374322321 | ABCA1 | c.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 | |
9 | g.104829062T>C | CA374322322 | ABCA1 | c.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 | |
9 | g.104829062T>G | CA374322323 | ABCA1 | c.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 | |
9 | g.104829063G>A | CA466510635 | ABCA1 | c.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 | |
9 | g.104829063G>C | CA5168854 | ABCA1 | c.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 |
9 | g.104829063G= | CA1869920328 | ABCA1 | c.1968C= (p.Ile656=) n.141C= c.1788C= (p.Ile596=) c.2043C= (p.Ile681=) c.1605C= (p.Ile535=) c.1905C= (p.Ile635=) n.2356C= | |
9 | g.104829063G>T | CA466510639 | ABCA1 | c.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 | |
9 | g.104829064A>C | CA374322324 | ABCA1 | c.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 | |
9 | g.104829064A>G | CA374322325 | ABCA1 | c.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 | |
9 | g.104829064A>T | CA374322326 | ABCA1 | c.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 | |
9 | g.104829065T>A | CA374322327 | ABCA1 | c.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 |
9 | g.104829065T>C | CA374322329 | ABCA1 | c.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 | |
9 | g.104829065T>G | CA374322328 | ABCA1 | c.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 |
9 | g.104829066G>A | CA466510649 | ABCA1 | c.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 | |
9 | g.104829066G>C | CA374322330 | ABCA1 | c.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 |
9 | g.104829066G>T | CA466510651 | ABCA1 | c.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 | |
9 | g.104829067A>C | CA374322331 | ABCA1 | c.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 | |
9 | g.104829067A>G | CA374322332 | ABCA1 | c.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 | |
9 | g.104829067A>T | CA374322333 | ABCA1 | c.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 | |
9 | g.104829068T>A | CA374322334 | ABCA1 | c.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 | |
9 | g.104829068T>C | CA374322335 | ABCA1 | c.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 | |
9 | g.104829068T>G | CA374322336 | ABCA1 | c.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 | |
9 | g.104829069C>A | CA466510664 | ABCA1 | c.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 | |
9 | g.104829069C>G | CA466510665 | ABCA1 | c.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 | |
9 | g.104829069C>T | CA466510668 | ABCA1 | c.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 | |
9 | g.104829070A= | CA1869920335 | ABCA1 | c.1961T= (p.Val654=) n.134T= c.1781T= (p.Val594=) c.2036T= (p.Val679=) c.1598T= (p.Val533=) c.1898T= (p.Val633=) n.2349T= | |
9 | g.104829070A>C | CA5168855 | ABCA1 | c.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 |
9 | g.104829070A>G | CA374322337 | ABCA1 | c.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 | |
9 | g.104829070A>T | CA374322338 | ABCA1 | c.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 | |
9 | g.104829071C>A | CA374322339 | ABCA1 | c.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 | |
9 | g.104829071C>G | CA374322340 | ABCA1 | c.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 | |
9 | g.104829071C>T | CA374322341 | ABCA1 | c.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 |
9 | g.104829072A>C | CA466510682 | ABCA1 | c.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 | |
9 | g.104829072A>G | CA466510678 | ABCA1 | c.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 | |
9 | g.104829072A>T | CA466510680 | ABCA1 | c.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 | |
9 | g.104829073G>A | CA374322345 | ABCA1 | c.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 | |
9 | g.104829073G>C | CA374322349 | ABCA1 | c.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 | |
9 | g.104829073G>T | CA374322347 | ABCA1 | c.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 | |
9 | g.104829074C>A | CA374322351 | ABCA1 | c.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 | |
9 | g.104829074C>G | CA374322353 | ABCA1 | c.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 | |
9 | g.104829074C>T | CA374322356 | ABCA1 | c.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 | |
9 | g.104829075C>A | CA466510694 | ABCA1 | c.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 | |
9 | g.104829075C= | CA1869920346 | ABCA1 | c.1956G= (p.Val652=) n.129G= c.1776G= (p.Val592=) c.2031G= (p.Val677=) c.1593G= (p.Val531=) c.1893G= (p.Val631=) n.2344G= | |
9 | g.104829075C>G | CA466510695 | ABCA1 | c.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 | |
9 | g.104829075C>T | CA466510697 | ABCA1 | c.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 |
9 | g.104829076A= | CA1869920361 | ABCA1 | c.1955T= (p.Val652=) n.128T= c.1775T= (p.Val592=) c.2030T= (p.Val677=) c.1592T= (p.Val531=) c.1892T= (p.Val631=) n.2343T= | |
9 | g.104829076A>C | CA374322359 | ABCA1 | c.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 | |
9 | g.104829076A>G | CA197395107 | ABCA1 | c.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 |
9 | g.104829076A>T | CA374322363 | ABCA1 | c.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 | |
9 | g.104829077C>A | CA374322365 | ABCA1 | c.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 | |
9 | g.104829077C>G | CA374322367 | ABCA1 | c.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 | |
9 | g.104829077C>T | CA374322369 | ABCA1 | c.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 | |
9 | g.104829078T>A | CA466510710 | ABCA1 | c.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 | |
9 | g.104829078T>C | CA5168856 | ABCA1 | c.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 |
9 | g.104829078T>G | CA466510712 | ABCA1 | c.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 | |
9 | g.104829078T= | CA1869920367 | ABCA1 | c.1953A= (p.Ser651=) n.126A= c.1773A= (p.Ser591=) c.2028A= (p.Ser676=) c.1590A= (p.Ser530=) c.1890A= (p.Ser630=) n.2341A= | |
9 | g.104829079G>A | CA374322378 | ABCA1 | c.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 |
9 | g.104829079G>C | CA374322375 | ABCA1 | c.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 | |
9 | g.104829079G= | CA1869920375 | ABCA1 | c.1952C= (p.Ser651=) n.125C= c.1772C= (p.Ser591=) c.2027C= (p.Ser676=) c.1589C= (p.Ser530=) c.1889C= (p.Ser630=) n.2340C= | |
9 | g.104829079G>T | CA374322373 | ABCA1 | c.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 | |
9 | g.104829080A>C | CA374322381 | ABCA1 | c.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 | |
9 | g.104829080A>G | CA374322383 | ABCA1 | c.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 | |
9 | g.104829080A>T | CA374322385 | ABCA1 | c.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 | |
9 | g.104829081G>A | CA466510723 | ABCA1 | c.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 | |
9 | g.104829081G>C | CA374322387 | ABCA1 | c.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 | |
9 | g.104829081G>T | CA374322388 | ABCA1 | c.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 | |
9 | g.104829082T>A | CA374322391 | ABCA1 | c.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 | |
9 | g.104829082T>C | CA374322393 | ABCA1 | c.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 |
9 | g.104829082T>G | CA374322395 | ABCA1 | c.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 | |
9 | g.104829083A>C | CA374322398 | ABCA1 | c.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 | |
9 | g.104829083A>G | CA374322400 | ABCA1 | c.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 | |
9 | g.104829083A>T | CA374322402 | ABCA1 | c.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 | |
9 | g.104829084A= | CA1869920377 | ABCA1 | c.1947T= (p.Ile649=) n.120T= c.1767T= (p.Ile589=) c.2022T= (p.Ile674=) c.1584T= (p.Ile528=) c.1884T= (p.Ile628=) n.2335T= | |
9 | g.104829084A>C | CA374322404 | ABCA1 | c.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 | |
9 | g.104829084A>G | CA466510736 | ABCA1 | c.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 | |
9 | g.104829084A>T | CA5168857 | ABCA1 | c.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 |
9 | g.104829085A>C | CA374322412 | ABCA1 | c.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 | |
9 | g.104829085A>G | CA374322410 | ABCA1 | c.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 | |
9 | g.104829085A>T | CA374322408 | ABCA1 | c.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 | |
9 | g.104829086T>A | CA197395117 | ABCA1 | c.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 |
9 | g.104829086T>C | CA374322417 | ABCA1 | c.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 | |
9 | g.104829086T>G | CA374322418 | ABCA1 | c.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 | |
9 | g.104829086T= | CA1869920383 | ABCA1 | c.1945A= (p.Ile649=) n.118A= c.1765A= (p.Ile589=) c.2020A= (p.Ile674=) c.1582A= (p.Ile528=) c.1882A= (p.Ile628=) n.2333A= | |
9 | g.104829087C>A | CA374322420 | ABCA1 | c.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 | |
9 | g.104829087C= | CA1869920392 | ABCA1 | c.1944G= (p.Trp648=) n.117G= c.1764G= (p.Trp588=) c.2019G= (p.Trp673=) c.1581G= (p.Trp527=) c.1881G= (p.Trp627=) n.2332G= | |
9 | g.104829087C>G | CA374322422 | ABCA1 | c.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 |
9 | g.104829087C>T | CA374322425 | ABCA1 | c.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 | |
9 | g.104829088C>A | CA374322427 | ABCA1 | c.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 | |
9 | g.104829088C>G | CA374322428 | ABCA1 | c.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 | |
9 | g.104829088C>T | CA374322430 | ABCA1 | c.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 | |
9 | g.104829089A>C | CA374322433 | ABCA1 | c.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 | |
9 | g.104829089A>G | CA374322435 | ABCA1 | c.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 | |
9 | g.104829089A>T | CA374322437 | ABCA1 | c.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 | |
9 | g.104829090G>A | CA5168858 | ABCA1 | c.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 |
9 | g.104829090G>C | CA466510765 | ABCA1 | c.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 | |
9 | g.104829090G= | CA1869920398 | ABCA1 | c.1941C= (p.Ala647=) n.114C= c.1761C= (p.Ala587=) c.2016C= (p.Ala672=) c.1578C= (p.Ala526=) c.1878C= (p.Ala626=) n.2329C= | |
9 | g.104829090G>T | CA5168859 | ABCA1 | c.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 |
9 | g.104829091G>A | CA374322443 | ABCA1 | c.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 | |
9 | g.104829091G>C | CA374322445 | ABCA1 | c.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 | |
9 | g.104829091G>T | CA374322441 | ABCA1 | c.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 | |
9 | g.104829092C>A | CA374322448 | ABCA1 | c.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 | |
9 | g.104829092C= | CA1869920407 | ABCA1 | c.1939G= (p.Ala647=) n.112G= c.1759G= (p.Ala587=) c.2014G= (p.Ala672=) c.1576G= (p.Ala526=) c.1876G= (p.Ala626=) n.2327G= | |
9 | g.104829092C>G | CA374322450 | ABCA1 | c.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 | |
9 | g.104829092C>T | CA5168860 | ABCA1 | c.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 |
9 | g.104829093C>A | CA466510786 | ABCA1 | c.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 | |
9 | g.104829093C>G | CA466510787 | ABCA1 | c.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 |
9 | g.104829093C>T | CA466510789 | ABCA1 | c.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 | |
9 | g.104829094A>C | CA374322453 | ABCA1 | c.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 | |
9 | g.104829094A>G | CA374322455 | ABCA1 | c.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 | |
9 | g.104829094A>T | CA374322457 | ABCA1 | c.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 | |
9 | g.104829095G>A | CA466510796 | ABCA1 | c.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 |
9 | g.104829095G>C | CA374322460 | ABCA1 | c.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 |
9 | g.104829095G>T | CA374322461 | ABCA1 | c.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 | |
9 | g.104829096C>A | CA466510802 | ABCA1 | c.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 | |
9 | g.104829096C= | CA1869920411 | ABCA1 | c.1935G= (p.Thr645=) n.108G= c.1755G= (p.Thr585=) c.2010G= (p.Thr670=) c.1572G= (p.Thr524=) c.1872G= (p.Thr624=) n.2323G= | |
9 | g.104829096C>G | CA466510804 | ABCA1 | c.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 | |
9 | g.104829096C>T | CA5168861 | ABCA1 | c.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 |
9 | g.104829097G>A | CA5168862 | ABCA1 | c.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 |
9 | g.104829097G>C | CA374322464 | ABCA1 | c.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 | |
9 | g.104829097G= | CA1869920415 | ABCA1 | c.1934C= (p.Thr645=) n.107C= c.1754C= (p.Thr585=) c.2009C= (p.Thr670=) c.1571C= (p.Thr524=) c.1871C= (p.Thr624=) n.2322C= | |
9 | g.104829097G>T | CA374322466 | ABCA1 | c.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 | |
9 | g.104829098T>A | CA374322472 | ABCA1 | c.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 | |
9 | g.104829098T>C | CA374322469 | ABCA1 | c.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 | |
9 | g.104829098T>G | CA374322471 | ABCA1 | c.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 | |
9 | g.104829099C>A | CA374322475 | ABCA1 | c.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 | |
9 | g.104829099C>G | CA374322477 | ABCA1 | c.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 | |
9 | g.104829099C>T | CA374322480 | ABCA1 | c.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 | |
9 | g.104829100A>C | CA374322483 | ABCA1 | c.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 | |
9 | g.104829100A>G | CA374322485 | ABCA1 | c.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 | |
9 | g.104829100A>T | CA374322487 | ABCA1 | c.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 | |
9 | g.104829101T>A | CA374322489 | ABCA1 | c.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 | |
9 | g.104829101T>C | CA374322492 | ABCA1 | c.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 |
9 | g.104829101T>G | CA5168863 | ABCA1 | c.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 |
9 | g.104829101T= | CA1869920422 | ABCA1 | c.1930A= (p.Met644=) n.103A= c.1750A= (p.Met584=) c.2005A= (p.Met669=) c.1567A= (p.Met523=) c.1867A= (p.Met623=) n.2318A= | |
9 | g.104829102G>A | CA466510829 | ABCA1 | c.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 | |
9 | g.104829102G>C | CA374322495 | ABCA1 | c.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 | |
9 | g.104829102G>T | CA374322497 | ABCA1 | c.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 | |
9 | g.104829103A>C | CA374322505 | ABCA1 | c.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 | |
9 | g.104829103A>G | CA374322503 | ABCA1 | c.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 | |
9 | g.104829103A>T | CA374322501 | ABCA1 | c.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 | |
9 | g.104829104A= | CA1869920428 | ABCA1 | c.1927T= (p.Phe643=) n.100T= c.1747T= (p.Phe583=) c.2002T= (p.Phe668=) c.1564T= (p.Phe522=) c.1864T= (p.Phe622=) n.2315T= | |
9 | g.104829104A>C | CA374322508 | ABCA1 | c.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 | |
9 | g.104829104A>G | CA374322511 | ABCA1 | c.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 |
9 | g.104829104A>T | CA5168864 | ABCA1 | c.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 |
9 | g.104829105G>A | CA466510843 | ABCA1 | c.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 |
9 | g.104829105G>C | CA466510845 | ABCA1 | c.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 | |
9 | g.104829105G= | CA1869920440 | ABCA1 | c.1926C= (p.Leu642=) n.99C= c.1746C= (p.Leu582=) c.2001C= (p.Leu667=) c.1563C= (p.Leu521=) c.1863C= (p.Leu621=) n.2314C= | |
9 | g.104829105G>T | CA466510848 | ABCA1 | c.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 | |
9 | g.104829106A>C | CA374322514 | ABCA1 | c.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 |
9 | g.104829106A>G | CA374322518 | ABCA1 | c.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 | |
9 | g.104829106A>T | CA374322516 | ABCA1 | c.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 | |
9 | g.104829107G>A | CA374322520 | ABCA1 | c.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 |
9 | g.104829107G>C | CA374322522 | ABCA1 | c.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 |
9 | g.104829107G>T | CA374322524 | ABCA1 | c.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 | |
9 | g.104829108G>A | CA197395155 | ABCA1 | c.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 |
9 | g.104829108G>C | CA466510860 | ABCA1 | c.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 | |
9 | g.104829108G= | CA1869920447 | ABCA1 | c.1923C= (p.Pro641=) n.96C= c.1743C= (p.Pro581=) c.1998C= (p.Pro666=) c.1560C= (p.Pro520=) c.1860C= (p.Pro620=) n.2311C= | |
9 | g.104829108G>T | CA466510862 | ABCA1 | c.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 |
9 | g.104829109G>A | CA197395172 | ABCA1 | c.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 |
9 | g.104829109G>C | CA374322529 | ABCA1 | c.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 | |
9 | g.104829109G= | CA1869920456 | ABCA1 | c.1922C= (p.Pro641=) n.95C= c.1742C= (p.Pro581=) c.1997C= (p.Pro666=) c.1559C= (p.Pro520=) c.1859C= (p.Pro620=) n.2310C= | |
9 | g.104829109G>T | CA374322531 | ABCA1 | c.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 | |
9 | g.104829110G>A | CA374322534 | ABCA1 | c.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 | |
9 | g.104829110G>C | CA374322535 | ABCA1 | c.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 | |
9 | g.104829110G>T | CA374322537 | ABCA1 | c.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 | |
9 | g.104829111C>A | CA374322540 | ABCA1 | c.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 | |
9 | g.104829111C>G | CA374322542 | ABCA1 | c.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 | |
9 | g.104829111C>T | CA374322544 | ABCA1 | c.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 | |
9 | g.104829112A>C | CA374322547 | ABCA1 | c.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 | |
9 | g.104829112A>G | CA374322550 | ABCA1 | c.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 | |
9 | g.104829112A>T | CA374322548 | ABCA1 | c.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 | |
9 | g.104829113T>A | CA374322553 | ABCA1 | c.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 | |
9 | g.104829113T>C | CA5168865 | ABCA1 | c.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 |
9 | g.104829113T>G | CA374322557 | ABCA1 | c.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 | |
9 | g.104829113T= | CA1869920459 | ABCA1 | c.1918A= (p.Met640=) n.91A= c.1738A= (p.Met580=) c.1993A= (p.Met665=) c.1555A= (p.Met519=) c.1855A= (p.Met619=) n.2306A= | |
9 | g.104829114T>A | CA466510887 | ABCA1 | c.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 | |
9 | g.104829114T>C | CA466510889 | ABCA1 | c.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 |
9 | g.104829114T>G | CA466510891 | ABCA1 | c.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 |
9 | g.104829114T= | CA1869920465 | ABCA1 | c.1917A= (p.Ser639=) n.90A= c.1737A= (p.Ser579=) c.1992A= (p.Ser664=) c.1554A= (p.Ser518=) c.1854A= (p.Ser618=) n.2305A= | |
9 | g.104829115G>A | CA374322559 | ABCA1 | c.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 |
9 | g.104829115G>C | CA374322561 | ABCA1 | c.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 | |
9 | g.104829115G>T | CA374322563 | ABCA1 | c.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 | |
9 | g.104829116A>C | CA374322566 | ABCA1 | c.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 | |
9 | g.104829116A>G | CA374322567 | ABCA1 | c.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 | |
9 | g.104829116A>T | CA374322568 | ABCA1 | c.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 | |
9 | g.104829116_104829117delinsAC | CA1869920472 | ABCA1 | c.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 | |
9 | g.104829117C>A | CA466510903 | ABCA1 | c.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 |
9 | g.104829117C>G | CA466510905 | ABCA1 | c.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 | |
9 | g.104829117C>T | CA466510907 | ABCA1 | c.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 |
9 | g.104829118del | CA1869920474 | ABCA1 | c.1914del (p.Ser639GlnfsTer6) n.87del c.1734del (p.Ser579GlnfsTer6) c.1989del (p.Ser664GlnfsTer6) c.1551del (p.Ser518GlnfsTer6) c.1851del (p.Ser618GlnfsTer6) n.2302del | dbSNP |
9 | g.104829118C>A | CA374322575 | ABCA1 | c.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 | |
9 | g.104829118C= | CA1869920479 | ABCA1 | c.1913G= (p.Arg638=) n.86G= c.1733G= (p.Arg578=) c.1988G= (p.Arg663=) c.1550G= (p.Arg517=) c.1850G= (p.Arg617=) n.2301G= | |
9 | g.104829118C>G | CA374322573 | ABCA1 | c.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 |
9 | g.104829118C>T | CA5168866 | ABCA1 | c.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 |
9 | g.104829119G>A | CA5168867 | ABCA1 | c.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 |
9 | g.104829119G>C | CA374322578 | ABCA1 | c.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 | |
9 | g.104829119G= | CA1869920488 | ABCA1 | c.1912C= (p.Arg638=) n.85C= c.1732C= (p.Arg578=) c.1987C= (p.Arg663=) c.1549C= (p.Arg517=) c.1849C= (p.Arg617=) n.2300C= | |
9 | g.104829119G>T | CA466510919 | ABCA1 | c.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 | |
9 | g.104829120dup | CA2841762109 | ABCA1 | c.1912dup (p.Arg638ProfsTer25) n.85dup c.1732dup (p.Arg578ProfsTer25) c.1987dup (p.Arg663ProfsTer25) c.1549dup (p.Arg517ProfsTer25) c.1849dup (p.Arg617ProfsTer25) n.2300dup | |
9 | g.104829120G>A | CA466510921 | ABCA1 | c.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 | |
9 | g.104829120G>C | CA374322581 | ABCA1 | c.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 | |
9 | g.104829120G>T | CA374322582 | ABCA1 | c.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 | |
9 | g.104829121C>A | CA374322584 | ABCA1 | c.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 |
9 | g.104829121C>G | CA374322586 | ABCA1 | c.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 | |
9 | g.104829121C>T | CA374322588 | ABCA1 | c.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 | |
9 | g.104829122T>A | CA374322591 | ABCA1 | c.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 | |
9 | g.104829122T>C | CA374322592 | ABCA1 | c.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 | |
9 | g.104829122T>G | CA374322594 | ABCA1 | c.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 | |
9 | g.104829123C>A | CA374322596 | ABCA1 | c.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 | |
9 | g.104829123C= | CA1869920495 | ABCA1 | c.1908G= (p.Met636=) n.81G= c.1728G= (p.Met576=) c.1983G= (p.Met661=) c.1545G= (p.Met515=) c.1845G= (p.Met615=) n.2296G= | |
9 | g.104829123C>G | CA374322598 | ABCA1 | c.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 | |
9 | g.104829123C>T | CA374322600 | ABCA1 | c.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 |
9 | g.104829124A= | CA1869920501 | ABCA1 | c.1907T= (p.Met636=) n.80T= c.1727T= (p.Met576=) c.1982T= (p.Met661=) c.1544T= (p.Met515=) c.1844T= (p.Met615=) n.2295T= | |
9 | g.104829124A>C | CA374322607 | ABCA1 | c.1907T>G (p.Met636Arg) n.80T>G c.1727T>G (p.Met576Arg) c.1982T>G (p.Met661Arg) c.1544T>G (p.Met515Arg) c.1844T>G (p.Met615Arg) n.2295T>G | |
9 | g.104829124A>G | CA374322603 | ABCA1 | c.1907T>C (p.Met636Thr) n.80T>C c.1727T>C (p.Met576Thr) c.1982T>C (p.Met661Thr) c.1544T>C (p.Met515Thr) c.1844T>C (p.Met615Thr) n.2295T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104829124A>T | CA374322605 | ABCA1 | c.1907T>A (p.Met636Lys) n.80T>A c.1727T>A (p.Met576Lys) c.1982T>A (p.Met661Lys) c.1544T>A (p.Met515Lys) c.1844T>A (p.Met615Lys) n.2295T>A | |
9 | g.104829125T>A | CA374322610 | ABCA1 | c.1906A>T (p.Met636Leu) n.79A>T c.1726A>T (p.Met576Leu) c.1981A>T (p.Met661Leu) c.1543A>T (p.Met515Leu) c.1843A>T (p.Met615Leu) n.2294A>T | |
9 | g.104829125T>C | CA5168868 | ABCA1 | c.1906A>G (p.Met636Val) n.79A>G c.1726A>G (p.Met576Val) c.1981A>G (p.Met661Val) c.1543A>G (p.Met515Val) c.1843A>G (p.Met615Val) n.2294A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104829125T>G | CA374322613 | ABCA1 | c.1906A>C (p.Met636Leu) n.79A>C c.1726A>C (p.Met576Leu) c.1981A>C (p.Met661Leu) c.1543A>C (p.Met515Leu) c.1843A>C (p.Met615Leu) n.2294A>C | |
9 | g.104829125T= | CA1869920503 | ABCA1 | c.1906A= (p.Met636=) n.79A= c.1726A= (p.Met576=) c.1981A= (p.Met661=) c.1543A= (p.Met515=) c.1843A= (p.Met615=) n.2294A= | |
9 | g.104829126C>A | CA466510956 | ABCA1 | c.1905G>T (p.Val635=) n.78G>T c.1725G>T (p.Val575=) c.1980G>T (p.Val660=) c.1542G>T (p.Val514=) c.1842G>T (p.Val614=) n.2293G>T | |
9 | g.104829126C>G | CA466510957 | ABCA1 | c.1905G>C (p.Val635=) n.78G>C c.1725G>C (p.Val575=) c.1980G>C (p.Val660=) c.1542G>C (p.Val514=) c.1842G>C (p.Val614=) n.2293G>C | |
9 | g.104829126C>T | CA466510959 | ABCA1 | c.1905G>A (p.Val635=) n.78G>A c.1725G>A (p.Val575=) c.1980G>A (p.Val660=) c.1542G>A (p.Val514=) c.1842G>A (p.Val614=) n.2293G>A |