Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104831647C>A | CA374324538 | ABCA1 | c.1690G>T (p.Glu564Ter) c.1510G>T (p.Glu504Ter) c.1765G>T (p.Glu589Ter) c.1327G>T (p.Glu443Ter) c.1627G>T (p.Glu543Ter) n.2078G>T | |
9 | g.104831647C>G | CA374324540 | ABCA1 | c.1690G>C (p.Glu564Gln) c.1510G>C (p.Glu504Gln) c.1765G>C (p.Glu589Gln) c.1327G>C (p.Glu443Gln) c.1627G>C (p.Glu543Gln) n.2078G>C | |
9 | g.104831647C>T | CA374324542 | ABCA1 | c.1690G>A (p.Glu564Lys) c.1510G>A (p.Glu504Lys) c.1765G>A (p.Glu589Lys) c.1327G>A (p.Glu443Lys) c.1627G>A (p.Glu543Lys) n.2078G>A | COSMIC |
9 | g.104831648C>A | CA466512369 | ABCA1 | c.1689G>T (p.Val563=) c.1509G>T (p.Val503=) c.1764G>T (p.Val588=) c.1326G>T (p.Val442=) c.1626G>T (p.Val542=) n.2077G>T | |
9 | g.104831648C>G | CA466512370 | ABCA1 | c.1689G>C (p.Val563=) c.1509G>C (p.Val503=) c.1764G>C (p.Val588=) c.1326G>C (p.Val442=) c.1626G>C (p.Val542=) n.2077G>C | |
9 | g.104831648C>T | CA466512372 | ABCA1 | c.1689G>A (p.Val563=) c.1509G>A (p.Val503=) c.1764G>A (p.Val588=) c.1326G>A (p.Val442=) c.1626G>A (p.Val542=) n.2077G>A | |
9 | g.104831649A>C | CA374324544 | ABCA1 | c.1688T>G (p.Val563Gly) c.1508T>G (p.Val503Gly) c.1763T>G (p.Val588Gly) c.1325T>G (p.Val442Gly) c.1625T>G (p.Val542Gly) n.2076T>G | |
9 | g.104831649A>G | CA374324546 | ABCA1 | c.1688T>C (p.Val563Ala) c.1508T>C (p.Val503Ala) c.1763T>C (p.Val588Ala) c.1325T>C (p.Val442Ala) c.1625T>C (p.Val542Ala) n.2076T>C | |
9 | g.104831649A>T | CA374324548 | ABCA1 | c.1688T>A (p.Val563Glu) c.1508T>A (p.Val503Glu) c.1763T>A (p.Val588Glu) c.1325T>A (p.Val442Glu) c.1625T>A (p.Val542Glu) n.2076T>A | |
9 | g.104831650C>A | CA374324551 | ABCA1 | c.1687G>T (p.Val563Leu) c.1507G>T (p.Val503Leu) c.1762G>T (p.Val588Leu) c.1324G>T (p.Val442Leu) c.1624G>T (p.Val542Leu) n.2075G>T | |
9 | g.104831650C>G | CA374324553 | ABCA1 | c.1687G>C (p.Val563Leu) c.1507G>C (p.Val503Leu) c.1762G>C (p.Val588Leu) c.1324G>C (p.Val442Leu) c.1624G>C (p.Val542Leu) n.2075G>C | |
9 | g.104831650C>T | CA374324555 | ABCA1 | c.1687G>A (p.Val563Met) c.1507G>A (p.Val503Met) c.1762G>A (p.Val588Met) c.1324G>A (p.Val442Met) c.1624G>A (p.Val542Met) n.2075G>A | |
9 | g.104831651A>C | CA374324559 | ABCA1 | c.1686T>G (p.Asn562Lys) c.1506T>G (p.Asn502Lys) c.1761T>G (p.Asn587Lys) c.1323T>G (p.Asn441Lys) c.1623T>G (p.Asn541Lys) n.2074T>G | |
9 | g.104831651A>G | CA466512389 | ABCA1 | c.1686T>C (p.Asn562=) c.1506T>C (p.Asn502=) c.1761T>C (p.Asn587=) c.1323T>C (p.Asn441=) c.1623T>C (p.Asn541=) n.2074T>C | |
9 | g.104831651A>T | CA374324558 | ABCA1 | c.1686T>A (p.Asn562Lys) c.1506T>A (p.Asn502Lys) c.1761T>A (p.Asn587Lys) c.1323T>A (p.Asn441Lys) c.1623T>A (p.Asn541Lys) n.2074T>A | gnomAD v4 |
9 | g.104831652T>A | CA374324561 | ABCA1 | c.1685A>T (p.Asn562Ile) c.1505A>T (p.Asn502Ile) c.1760A>T (p.Asn587Ile) c.1322A>T (p.Asn441Ile) c.1622A>T (p.Asn541Ile) n.2073A>T | |
9 | g.104831652T>C | CA5168954 | ABCA1 | c.1685A>G (p.Asn562Ser) c.1505A>G (p.Asn502Ser) c.1760A>G (p.Asn587Ser) c.1322A>G (p.Asn441Ser) c.1622A>G (p.Asn541Ser) n.2073A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831652T>G | CA374324564 | ABCA1 | c.1685A>C (p.Asn562Thr) c.1505A>C (p.Asn502Thr) c.1760A>C (p.Asn587Thr) c.1322A>C (p.Asn441Thr) c.1622A>C (p.Asn541Thr) n.2073A>C | |
9 | g.104831652T= | CA1869925567 | ABCA1 | c.1685A= (p.Asn562=) c.1505A= (p.Asn502=) c.1760A= (p.Asn587=) c.1322A= (p.Asn441=) c.1622A= (p.Asn541=) n.2073A= | |
9 | g.104831653T>A | CA374324566 | ABCA1 | c.1684A>T (p.Asn562Tyr) c.1504A>T (p.Asn502Tyr) c.1759A>T (p.Asn587Tyr) c.1321A>T (p.Asn441Tyr) c.1621A>T (p.Asn541Tyr) n.2072A>T | |
9 | g.104831653T>C | CA374324568 | ABCA1 | c.1684A>G (p.Asn562Asp) c.1504A>G (p.Asn502Asp) c.1759A>G (p.Asn587Asp) c.1321A>G (p.Asn441Asp) c.1621A>G (p.Asn541Asp) n.2072A>G | |
9 | g.104831653T>G | CA374324570 | ABCA1 | c.1684A>C (p.Asn562His) c.1504A>C (p.Asn502His) c.1759A>C (p.Asn587His) c.1321A>C (p.Asn441His) c.1621A>C (p.Asn541His) n.2072A>C | dbSNP |
9 | g.104831653T= | CA1869925573 | ABCA1 | c.1684A= (p.Asn562=) c.1504A= (p.Asn502=) c.1759A= (p.Asn587=) c.1321A= (p.Asn441=) c.1621A= (p.Asn541=) n.2072A= | |
9 | g.104831654G>A | CA5168955 | ABCA1 | c.1683C>T (p.Asp561=) c.1503C>T (p.Asp501=) c.1758C>T (p.Asp586=) c.1320C>T (p.Asp440=) c.1620C>T (p.Asp540=) n.2071C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831654G>C | CA374324573 | ABCA1 | c.1683C>G (p.Asp561Glu) c.1503C>G (p.Asp501Glu) c.1758C>G (p.Asp586Glu) c.1320C>G (p.Asp440Glu) c.1620C>G (p.Asp540Glu) n.2071C>G | |
9 | g.104831654G= | CA1869925577 | ABCA1 | c.1683C= (p.Asp561=) c.1503C= (p.Asp501=) c.1758C= (p.Asp586=) c.1320C= (p.Asp440=) c.1620C= (p.Asp540=) n.2071C= | |
9 | g.104831654G>T | CA374324576 | ABCA1 | c.1683C>A (p.Asp561Glu) c.1503C>A (p.Asp501Glu) c.1758C>A (p.Asp586Glu) c.1320C>A (p.Asp440Glu) c.1620C>A (p.Asp540Glu) n.2071C>A | |
9 | g.104831655T>A | CA374324578 | ABCA1 | c.1682A>T (p.Asp561Val) c.1502A>T (p.Asp501Val) c.1757A>T (p.Asp586Val) c.1319A>T (p.Asp440Val) c.1619A>T (p.Asp540Val) n.2070A>T | |
9 | g.104831655T>C | CA374324582 | ABCA1 | c.1682A>G (p.Asp561Gly) c.1502A>G (p.Asp501Gly) c.1757A>G (p.Asp586Gly) c.1319A>G (p.Asp440Gly) c.1619A>G (p.Asp540Gly) n.2070A>G | |
9 | g.104831655T>G | CA374324584 | ABCA1 | c.1682A>C (p.Asp561Ala) c.1502A>C (p.Asp501Ala) c.1757A>C (p.Asp586Ala) c.1319A>C (p.Asp440Ala) c.1619A>C (p.Asp540Ala) n.2070A>C | |
9 | g.104831656C>A | CA374324589 | ABCA1 | c.1681G>T (p.Asp561Tyr) c.1501G>T (p.Asp501Tyr) c.1756G>T (p.Asp586Tyr) c.1318G>T (p.Asp440Tyr) c.1618G>T (p.Asp540Tyr) n.2069G>T | |
9 | g.104831656C= | CA1869925583 | ABCA1 | c.1681G= (p.Asp561=) c.1501G= (p.Asp501=) c.1756G= (p.Asp586=) c.1318G= (p.Asp440=) c.1618G= (p.Asp540=) n.2069G= | |
9 | g.104831656C>G | CA374324592 | ABCA1 | c.1681G>C (p.Asp561His) c.1501G>C (p.Asp501His) c.1756G>C (p.Asp586His) c.1318G>C (p.Asp440His) c.1618G>C (p.Asp540His) n.2069G>C | |
9 | g.104831656C>T | CA374324587 | ABCA1 | c.1681G>A (p.Asp561Asn) c.1501G>A (p.Asp501Asn) c.1756G>A (p.Asp586Asn) c.1318G>A (p.Asp440Asn) c.1618G>A (p.Asp540Asn) n.2069G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831657A>C | CA374324594 | ABCA1 | c.1680T>G (p.Ile560Met) c.1500T>G (p.Ile500Met) c.1755T>G (p.Ile585Met) c.1317T>G (p.Ile439Met) c.1617T>G (p.Ile539Met) n.2068T>G | |
9 | g.104831657A>G | CA466512418 | ABCA1 | c.1680T>C (p.Ile560=) c.1500T>C (p.Ile500=) c.1755T>C (p.Ile585=) c.1317T>C (p.Ile439=) c.1617T>C (p.Ile539=) n.2068T>C | |
9 | g.104831657A>T | CA466512416 | ABCA1 | c.1680T>A (p.Ile560=) c.1500T>A (p.Ile500=) c.1755T>A (p.Ile585=) c.1317T>A (p.Ile439=) c.1617T>A (p.Ile539=) n.2068T>A | |
9 | g.104831658dup | CA2739264899 | ABCA1 | c.1680dup (p.Asp561Ter) c.1500dup (p.Asp501Ter) c.1755dup (p.Asp586Ter) c.1317dup (p.Asp440Ter) c.1617dup (p.Asp540Ter) n.2068dup | ClinVar |
9 | g.104831658A= | CA1869925593 | ABCA1 | c.1679T= (p.Ile560=) c.1499T= (p.Ile500=) c.1754T= (p.Ile585=) c.1316T= (p.Ile439=) c.1616T= (p.Ile539=) n.2067T= | |
9 | g.104831658A>C | CA374324597 | ABCA1 | c.1679T>G (p.Ile560Ser) c.1499T>G (p.Ile500Ser) c.1754T>G (p.Ile585Ser) c.1316T>G (p.Ile439Ser) c.1616T>G (p.Ile539Ser) n.2067T>G | |
9 | g.104831658A>G | CA5168956 | ABCA1 | c.1679T>C (p.Ile560Thr) c.1499T>C (p.Ile500Thr) c.1754T>C (p.Ile585Thr) c.1316T>C (p.Ile439Thr) c.1616T>C (p.Ile539Thr) n.2067T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831658A>T | CA374324600 | ABCA1 | c.1679T>A (p.Ile560Asn) c.1499T>A (p.Ile500Asn) c.1754T>A (p.Ile585Asn) c.1316T>A (p.Ile439Asn) c.1616T>A (p.Ile539Asn) n.2067T>A | |
9 | g.104831659T>A | CA374324603 | ABCA1 | c.1678A>T (p.Ile560Phe) c.1498A>T (p.Ile500Phe) c.1753A>T (p.Ile585Phe) c.1315A>T (p.Ile439Phe) c.1615A>T (p.Ile539Phe) n.2066A>T | |
9 | g.104831659T>C | CA374324606 | ABCA1 | c.1678A>G (p.Ile560Val) c.1498A>G (p.Ile500Val) c.1753A>G (p.Ile585Val) c.1315A>G (p.Ile439Val) c.1615A>G (p.Ile539Val) n.2066A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831659T>G | CA374324608 | ABCA1 | c.1678A>C (p.Ile560Leu) c.1498A>C (p.Ile500Leu) c.1753A>C (p.Ile585Leu) c.1315A>C (p.Ile439Leu) c.1615A>C (p.Ile539Leu) n.2066A>C | |
9 | g.104831659T= | CA1869925597 | ABCA1 | c.1678A= (p.Ile560=) c.1498A= (p.Ile500=) c.1753A= (p.Ile585=) c.1315A= (p.Ile439=) c.1615A= (p.Ile539=) n.2066A= | |
9 | g.104831660G>A | CA466512434 | ABCA1 | c.1677C>T (p.Asp559=) c.1497C>T (p.Asp499=) c.1752C>T (p.Asp584=) c.1314C>T (p.Asp438=) c.1614C>T (p.Asp538=) n.2065C>T | |
9 | g.104831660G>C | CA374324610 | ABCA1 | c.1677C>G (p.Asp559Glu) c.1497C>G (p.Asp499Glu) c.1752C>G (p.Asp584Glu) c.1314C>G (p.Asp438Glu) c.1614C>G (p.Asp538Glu) n.2065C>G | |
9 | g.104831660G>T | CA374324612 | ABCA1 | c.1677C>A (p.Asp559Glu) c.1497C>A (p.Asp499Glu) c.1752C>A (p.Asp584Glu) c.1314C>A (p.Asp438Glu) c.1614C>A (p.Asp538Glu) n.2065C>A | |
9 | g.104831661T>A | CA374324615 | ABCA1 | c.1676A>T (p.Asp559Val) c.1496A>T (p.Asp499Val) c.1751A>T (p.Asp584Val) c.1313A>T (p.Asp438Val) c.1613A>T (p.Asp538Val) n.2064A>T | |
9 | g.104831661T>C | CA374324616 | ABCA1 | c.1676A>G (p.Asp559Gly) c.1496A>G (p.Asp499Gly) c.1751A>G (p.Asp584Gly) c.1313A>G (p.Asp438Gly) c.1613A>G (p.Asp538Gly) n.2064A>G | gnomAD v4 |
9 | g.104831661T>G | CA374324618 | ABCA1 | c.1676A>C (p.Asp559Ala) c.1496A>C (p.Asp499Ala) c.1751A>C (p.Asp584Ala) c.1313A>C (p.Asp438Ala) c.1613A>C (p.Asp538Ala) n.2064A>C | |
9 | g.104831662C>A | CA374324621 | ABCA1 | c.1675G>T (p.Asp559Tyr) c.1495G>T (p.Asp499Tyr) c.1750G>T (p.Asp584Tyr) c.1312G>T (p.Asp438Tyr) c.1612G>T (p.Asp538Tyr) n.2063G>T | dbSNP |
9 | g.104831662C= | CA1869925600 | ABCA1 | c.1675G= (p.Asp559=) c.1495G= (p.Asp499=) c.1750G= (p.Asp584=) c.1312G= (p.Asp438=) c.1612G= (p.Asp538=) n.2063G= | |
9 | g.104831662C>G | CA374324623 | ABCA1 | c.1675G>C (p.Asp559His) c.1495G>C (p.Asp499His) c.1750G>C (p.Asp584His) c.1312G>C (p.Asp438His) c.1612G>C (p.Asp538His) n.2063G>C | dbSNP |
9 | g.104831662C>T | CA374324620 | ABCA1 | c.1675G>A (p.Asp559Asn) c.1495G>A (p.Asp499Asn) c.1750G>A (p.Asp584Asn) c.1312G>A (p.Asp438Asn) c.1612G>A (p.Asp538Asn) n.2063G>A | gnomAD v4 |
9 | g.104831663C>A | CA374324626 | ABCA1 | c.1674G>T (p.Met558Ile) c.1494G>T (p.Met498Ile) c.1749G>T (p.Met583Ile) c.1311G>T (p.Met437Ile) c.1611G>T (p.Met537Ile) n.2062G>T | gnomAD v4 |
9 | g.104831663C>G | CA374324627 | ABCA1 | c.1674G>C (p.Met558Ile) c.1494G>C (p.Met498Ile) c.1749G>C (p.Met583Ile) c.1311G>C (p.Met437Ile) c.1611G>C (p.Met537Ile) n.2062G>C | |
9 | g.104831663C>T | CA374324630 | ABCA1 | c.1674G>A (p.Met558Ile) c.1494G>A (p.Met498Ile) c.1749G>A (p.Met583Ile) c.1311G>A (p.Met437Ile) c.1611G>A (p.Met537Ile) n.2062G>A | |
9 | g.104831664A>C | CA374324633 | ABCA1 | c.1673T>G (p.Met558Arg) c.1493T>G (p.Met498Arg) c.1748T>G (p.Met583Arg) c.1310T>G (p.Met437Arg) c.1610T>G (p.Met537Arg) n.2061T>G | |
9 | g.104831664A>G | CA374324635 | ABCA1 | c.1673T>C (p.Met558Thr) c.1493T>C (p.Met498Thr) c.1748T>C (p.Met583Thr) c.1310T>C (p.Met437Thr) c.1610T>C (p.Met537Thr) n.2061T>C | |
9 | g.104831664A>T | CA374324636 | ABCA1 | c.1673T>A (p.Met558Lys) c.1493T>A (p.Met498Lys) c.1748T>A (p.Met583Lys) c.1310T>A (p.Met437Lys) c.1610T>A (p.Met537Lys) n.2061T>A | |
9 | g.104831665T>A | CA374324640 | ABCA1 | c.1672A>T (p.Met558Leu) c.1492A>T (p.Met498Leu) c.1747A>T (p.Met583Leu) c.1309A>T (p.Met437Leu) c.1609A>T (p.Met537Leu) n.2060A>T | |
9 | g.104831665T>C | CA374324645 | ABCA1 | c.1672A>G (p.Met558Val) c.1492A>G (p.Met498Val) c.1747A>G (p.Met583Val) c.1309A>G (p.Met437Val) c.1609A>G (p.Met537Val) n.2060A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.104831665T>G | CA374324642 | ABCA1 | c.1672A>C (p.Met558Leu) c.1492A>C (p.Met498Leu) c.1747A>C (p.Met583Leu) c.1309A>C (p.Met437Leu) c.1609A>C (p.Met537Leu) n.2060A>C | |
9 | g.104831665T= | CA1869925607 | ABCA1 | c.1672A= (p.Met558=) c.1492A= (p.Met498=) c.1747A= (p.Met583=) c.1309A= (p.Met437=) c.1609A= (p.Met537=) n.2060A= | |
9 | g.104831666T>A | CA466512462 | ABCA1 | c.1671A>T (p.Arg557=) c.1491A>T (p.Arg497=) c.1746A>T (p.Arg582=) c.1308A>T (p.Arg436=) c.1608A>T (p.Arg536=) n.2059A>T | |
9 | g.104831666T>C | CA466512464 | ABCA1 | c.1671A>G (p.Arg557=) c.1491A>G (p.Arg497=) c.1746A>G (p.Arg582=) c.1308A>G (p.Arg436=) c.1608A>G (p.Arg536=) n.2059A>G | |
9 | g.104831666T>G | CA466512466 | ABCA1 | c.1671A>C (p.Arg557=) c.1491A>C (p.Arg497=) c.1746A>C (p.Arg582=) c.1308A>C (p.Arg436=) c.1608A>C (p.Arg536=) n.2059A>C | |
9 | g.104831667C>A | CA374324648 | ABCA1 | c.1670G>T (p.Arg557Leu) c.1490G>T (p.Arg497Leu) c.1745G>T (p.Arg582Leu) c.1307G>T (p.Arg436Leu) c.1607G>T (p.Arg536Leu) n.2058G>T | COSMIC |
9 | g.104831667C= | CA1869925616 | ABCA1 | c.1670G= (p.Arg557=) c.1490G= (p.Arg497=) c.1745G= (p.Arg582=) c.1307G= (p.Arg436=) c.1607G= (p.Arg536=) n.2058G= | |
9 | g.104831667C>G | CA374324649 | ABCA1 | c.1670G>C (p.Arg557Pro) c.1490G>C (p.Arg497Pro) c.1745G>C (p.Arg582Pro) c.1307G>C (p.Arg436Pro) c.1607G>C (p.Arg536Pro) n.2058G>C | |
9 | g.104831667C>T | CA374324652 | ABCA1 | c.1670G>A (p.Arg557Gln) c.1490G>A (p.Arg497Gln) c.1745G>A (p.Arg582Gln) c.1307G>A (p.Arg436Gln) c.1607G>A (p.Arg536Gln) n.2058G>A | dbSNP gnomAD v4 COSMIC |
9 | g.104831668G>A | CA374324655 | ABCA1 | c.1669C>T (p.Arg557Ter) c.1489C>T (p.Arg497Ter) c.1744C>T (p.Arg582Ter) c.1306C>T (p.Arg436Ter) c.1606C>T (p.Arg536Ter) n.2057C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831668G>C | CA374324657 | ABCA1 | c.1669C>G (p.Arg557Gly) c.1489C>G (p.Arg497Gly) c.1744C>G (p.Arg582Gly) c.1306C>G (p.Arg436Gly) c.1606C>G (p.Arg536Gly) n.2057C>G | |
9 | g.104831668G= | CA1869925626 | ABCA1 | c.1669C= (p.Arg557=) c.1489C= (p.Arg497=) c.1744C= (p.Arg582=) c.1306C= (p.Arg436=) c.1606C= (p.Arg536=) n.2057C= | |
9 | g.104831668G>T | CA466512477 | ABCA1 | c.1669C>A (p.Arg557=) c.1489C>A (p.Arg497=) c.1744C>A (p.Arg582=) c.1306C>A (p.Arg436=) c.1606C>A (p.Arg536=) n.2057C>A | |
9 | g.104831669G>A | CA466512492 | ABCA1 | c.1668C>T (p.Ile556=) c.1488C>T (p.Ile496=) c.1743C>T (p.Ile581=) c.1305C>T (p.Ile435=) c.1605C>T (p.Ile535=) n.2056C>T | |
9 | g.104831669G>C | CA374324659 | ABCA1 | c.1668C>G (p.Ile556Met) c.1488C>G (p.Ile496Met) c.1743C>G (p.Ile581Met) c.1305C>G (p.Ile435Met) c.1605C>G (p.Ile535Met) n.2056C>G | gnomAD v4 |
9 | g.104831669G>T | CA466512496 | ABCA1 | c.1668C>A (p.Ile556=) c.1488C>A (p.Ile496=) c.1743C>A (p.Ile581=) c.1305C>A (p.Ile435=) c.1605C>A (p.Ile535=) n.2056C>A | |
9 | g.104831670A= | CA1869925633 | ABCA1 | c.1667T= (p.Ile556=) c.1487T= (p.Ile496=) c.1742T= (p.Ile581=) c.1304T= (p.Ile435=) c.1604T= (p.Ile535=) n.2055T= | |
9 | g.104831670A>C | CA374324664 | ABCA1 | c.1667T>G (p.Ile556Ser) c.1487T>G (p.Ile496Ser) c.1742T>G (p.Ile581Ser) c.1304T>G (p.Ile435Ser) c.1604T>G (p.Ile535Ser) n.2055T>G | |
9 | g.104831670A>G | CA374324662 | ABCA1 | c.1667T>C (p.Ile556Thr) c.1487T>C (p.Ile496Thr) c.1742T>C (p.Ile581Thr) c.1304T>C (p.Ile435Thr) c.1604T>C (p.Ile535Thr) n.2055T>C | |
9 | g.104831670A>T | CA374324665 | ABCA1 | c.1667T>A (p.Ile556Asn) c.1487T>A (p.Ile496Asn) c.1742T>A (p.Ile581Asn) c.1304T>A (p.Ile435Asn) c.1604T>A (p.Ile535Asn) n.2055T>A | |
9 | g.104831671T>A | CA374324669 | ABCA1 | c.1666A>T (p.Ile556Phe) c.1486A>T (p.Ile496Phe) c.1741A>T (p.Ile581Phe) c.1303A>T (p.Ile435Phe) c.1603A>T (p.Ile535Phe) n.2054A>T | |
9 | g.104831671T>C | CA374324670 | ABCA1 | c.1666A>G (p.Ile556Val) c.1486A>G (p.Ile496Val) c.1741A>G (p.Ile581Val) c.1303A>G (p.Ile435Val) c.1603A>G (p.Ile535Val) n.2054A>G | |
9 | g.104831671T>G | CA374324673 | ABCA1 | c.1666A>C (p.Ile556Leu) c.1486A>C (p.Ile496Leu) c.1741A>C (p.Ile581Leu) c.1303A>C (p.Ile435Leu) c.1603A>C (p.Ile535Leu) n.2054A>C | |
9 | g.104831671dup | CA1869925641 | ABCA1 | c.1666dup (p.Ile556AsnfsTer6) c.1486dup (p.Ile496AsnfsTer6) c.1741dup (p.Ile581AsnfsTer6) c.1303dup (p.Ile435AsnfsTer6) c.1603dup (p.Ile535AsnfsTer6) n.2054dup | dbSNP |
9 | g.104831672C>A | CA374324676 | ABCA1 | c.1665G>T (p.Lys555Asn) c.1485G>T (p.Lys495Asn) c.1740G>T (p.Lys580Asn) c.1302G>T (p.Lys434Asn) c.1602G>T (p.Lys534Asn) n.2053G>T | |
9 | g.104831672C>G | CA374324678 | ABCA1 | c.1665G>C (p.Lys555Asn) c.1485G>C (p.Lys495Asn) c.1740G>C (p.Lys580Asn) c.1302G>C (p.Lys434Asn) c.1602G>C (p.Lys534Asn) n.2053G>C | |
9 | g.104831672C>T | CA466512510 | ABCA1 | c.1665G>A (p.Lys555=) c.1485G>A (p.Lys495=) c.1740G>A (p.Lys580=) c.1302G>A (p.Lys434=) c.1602G>A (p.Lys534=) n.2053G>A | gnomAD v4 |
9 | g.104831673T>A | CA374324680 | ABCA1 | c.1664A>T (p.Lys555Met) c.1484A>T (p.Lys495Met) c.1739A>T (p.Lys580Met) c.1301A>T (p.Lys434Met) c.1601A>T (p.Lys534Met) n.2052A>T | |
9 | g.104831673T>C | CA374324681 | ABCA1 | c.1664A>G (p.Lys555Arg) c.1484A>G (p.Lys495Arg) c.1739A>G (p.Lys580Arg) c.1301A>G (p.Lys434Arg) c.1601A>G (p.Lys534Arg) n.2052A>G | |
9 | g.104831673T>G | CA374324682 | ABCA1 | c.1664A>C (p.Lys555Thr) c.1484A>C (p.Lys495Thr) c.1739A>C (p.Lys580Thr) c.1301A>C (p.Lys434Thr) c.1601A>C (p.Lys534Thr) n.2052A>C | ClinVar gnomAD v4 |
9 | g.104831674T>A | CA374324683 | ABCA1 | c.1663A>T (p.Lys555Ter) c.1483A>T (p.Lys495Ter) c.1738A>T (p.Lys580Ter) c.1300A>T (p.Lys434Ter) c.1600A>T (p.Lys534Ter) n.2051A>T | |
9 | g.104831674T>C | CA374324684 | ABCA1 | c.1663A>G (p.Lys555Glu) c.1483A>G (p.Lys495Glu) c.1738A>G (p.Lys580Glu) c.1300A>G (p.Lys434Glu) c.1600A>G (p.Lys534Glu) n.2051A>G | |
9 | g.104831674T>G | CA374324685 | ABCA1 | c.1663A>C (p.Lys555Gln) c.1483A>C (p.Lys495Gln) c.1738A>C (p.Lys580Gln) c.1300A>C (p.Lys434Gln) c.1600A>C (p.Lys534Gln) n.2051A>C | |
9 | g.104831675G>A | CA5168957 | ABCA1 | c.1662C>T (p.Tyr554=) c.1482C>T (p.Tyr494=) c.1737C>T (p.Tyr579=) c.1299C>T (p.Tyr433=) c.1599C>T (p.Tyr533=) n.2050C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831675G>C | CA374324687 | ABCA1 | c.1662C>G (p.Tyr554Ter) c.1482C>G (p.Tyr494Ter) c.1737C>G (p.Tyr579Ter) c.1299C>G (p.Tyr433Ter) c.1599C>G (p.Tyr533Ter) n.2050C>G | |
9 | g.104831675G= | CA1869925645 | ABCA1 | c.1662C= (p.Tyr554=) c.1482C= (p.Tyr494=) c.1737C= (p.Tyr579=) c.1299C= (p.Tyr433=) c.1599C= (p.Tyr533=) n.2050C= | |
9 | g.104831675G>T | CA374324686 | ABCA1 | c.1662C>A (p.Tyr554Ter) c.1482C>A (p.Tyr494Ter) c.1737C>A (p.Tyr579Ter) c.1299C>A (p.Tyr433Ter) c.1599C>A (p.Tyr533Ter) n.2050C>A | |
9 | g.104831676T>A | CA374324688 | ABCA1 | c.1661A>T (p.Tyr554Phe) c.1481A>T (p.Tyr494Phe) c.1736A>T (p.Tyr579Phe) c.1298A>T (p.Tyr433Phe) c.1598A>T (p.Tyr533Phe) n.2049A>T | |
9 | g.104831676T>C | CA374324689 | ABCA1 | c.1661A>G (p.Tyr554Cys) c.1481A>G (p.Tyr494Cys) c.1736A>G (p.Tyr579Cys) c.1298A>G (p.Tyr433Cys) c.1598A>G (p.Tyr533Cys) n.2049A>G | |
9 | g.104831676T>G | CA374324690 | ABCA1 | c.1661A>C (p.Tyr554Ser) c.1481A>C (p.Tyr494Ser) c.1736A>C (p.Tyr579Ser) c.1298A>C (p.Tyr433Ser) c.1598A>C (p.Tyr533Ser) n.2049A>C | |
9 | g.104831677A>C | CA374324691 | ABCA1 | c.1660T>G (p.Tyr554Asp) c.1480T>G (p.Tyr494Asp) c.1735T>G (p.Tyr579Asp) c.1297T>G (p.Tyr433Asp) c.1597T>G (p.Tyr533Asp) n.2048T>G | |
9 | g.104831677A>G | CA374324692 | ABCA1 | c.1660T>C (p.Tyr554His) c.1480T>C (p.Tyr494His) c.1735T>C (p.Tyr579His) c.1297T>C (p.Tyr433His) c.1597T>C (p.Tyr533His) n.2048T>C | gnomAD v4 |
9 | g.104831677A>T | CA374324693 | ABCA1 | c.1660T>A (p.Tyr554Asn) c.1480T>A (p.Tyr494Asn) c.1735T>A (p.Tyr579Asn) c.1297T>A (p.Tyr433Asn) c.1597T>A (p.Tyr533Asn) n.2048T>A | |
9 | g.104831678C>A | CA374324694 | ABCA1 | c.1659G>T (p.Lys553Asn) c.1479G>T (p.Lys493Asn) c.1734G>T (p.Lys578Asn) c.1296G>T (p.Lys432Asn) c.1596G>T (p.Lys532Asn) n.2047G>T | |
9 | g.104831678C= | CA1869925647 | ABCA1 | c.1659G= (p.Lys553=) c.1479G= (p.Lys493=) c.1734G= (p.Lys578=) c.1296G= (p.Lys432=) c.1596G= (p.Lys532=) n.2047G= | |
9 | g.104831678C>G | CA374324695 | ABCA1 | c.1659G>C (p.Lys553Asn) c.1479G>C (p.Lys493Asn) c.1734G>C (p.Lys578Asn) c.1296G>C (p.Lys432Asn) c.1596G>C (p.Lys532Asn) n.2047G>C | gnomAD v4 |
9 | g.104831678C>T | CA5168958 | ABCA1 | c.1659G>A (p.Lys553=) c.1479G>A (p.Lys493=) c.1734G>A (p.Lys578=) c.1296G>A (p.Lys432=) c.1596G>A (p.Lys532=) n.2047G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831679T>A | CA374324696 | ABCA1 | c.1658A>T (p.Lys553Met) c.1478A>T (p.Lys493Met) c.1733A>T (p.Lys578Met) c.1295A>T (p.Lys432Met) c.1595A>T (p.Lys532Met) n.2046A>T | |
9 | g.104831679T>C | CA374324697 | ABCA1 | c.1658A>G (p.Lys553Arg) c.1478A>G (p.Lys493Arg) c.1733A>G (p.Lys578Arg) c.1295A>G (p.Lys432Arg) c.1595A>G (p.Lys532Arg) n.2046A>G | |
9 | g.104831679T>G | CA374324698 | ABCA1 | c.1658A>C (p.Lys553Thr) c.1478A>C (p.Lys493Thr) c.1733A>C (p.Lys578Thr) c.1295A>C (p.Lys432Thr) c.1595A>C (p.Lys532Thr) n.2046A>C | |
9 | g.104831680del | CA2691053456 | ABCA1 | c.1658del (p.Lys553SerfsTer?) c.1478del (p.Lys493SerfsTer?) c.1733del (p.Lys578SerfsTer?) c.1295del (p.Lys432SerfsTer?) c.1595del (p.Lys532SerfsTer?) n.2046del | gnomAD v4 |
9 | g.104831680T>A | CA374324700 | ABCA1 | c.1657A>T (p.Lys553Ter) c.1477A>T (p.Lys493Ter) c.1732A>T (p.Lys578Ter) c.1294A>T (p.Lys432Ter) c.1594A>T (p.Lys532Ter) n.2045A>T | |
9 | g.104831680T>C | CA374324701 | ABCA1 | c.1657A>G (p.Lys553Glu) c.1477A>G (p.Lys493Glu) c.1732A>G (p.Lys578Glu) c.1294A>G (p.Lys432Glu) c.1594A>G (p.Lys532Glu) n.2045A>G | |
9 | g.104831680T>G | CA374324699 | ABCA1 | c.1657A>C (p.Lys553Gln) c.1477A>C (p.Lys493Gln) c.1732A>C (p.Lys578Gln) c.1294A>C (p.Lys432Gln) c.1594A>C (p.Lys532Gln) n.2045A>C | |
9 | g.104831681G>A | CA466512553 | ABCA1 | c.1656C>T (p.Val552=) c.1476C>T (p.Val492=) c.1731C>T (p.Val577=) c.1293C>T (p.Val431=) c.1593C>T (p.Val531=) n.2044C>T | |
9 | g.104831681G>C | CA466512557 | ABCA1 | c.1656C>G (p.Val552=) c.1476C>G (p.Val492=) c.1731C>G (p.Val577=) c.1293C>G (p.Val431=) c.1593C>G (p.Val531=) n.2044C>G | |
9 | g.104831681G>T | CA466512555 | ABCA1 | c.1656C>A (p.Val552=) c.1476C>A (p.Val492=) c.1731C>A (p.Val577=) c.1293C>A (p.Val431=) c.1593C>A (p.Val531=) n.2044C>A | |
9 | g.104831682A>C | CA374324702 | ABCA1 | c.1655T>G (p.Val552Gly) c.1475T>G (p.Val492Gly) c.1730T>G (p.Val577Gly) c.1292T>G (p.Val431Gly) c.1592T>G (p.Val531Gly) n.2043T>G | |
9 | g.104831682A>G | CA374324703 | ABCA1 | c.1655T>C (p.Val552Ala) c.1475T>C (p.Val492Ala) c.1730T>C (p.Val577Ala) c.1292T>C (p.Val431Ala) c.1592T>C (p.Val531Ala) n.2043T>C | |
9 | g.104831682A>T | CA374324704 | ABCA1 | c.1655T>A (p.Val552Asp) c.1475T>A (p.Val492Asp) c.1730T>A (p.Val577Asp) c.1292T>A (p.Val431Asp) c.1592T>A (p.Val531Asp) n.2043T>A | |
9 | g.104831683C>A | CA374324705 | ABCA1 | c.1654G>T (p.Val552Phe) c.1474G>T (p.Val492Phe) c.1729G>T (p.Val577Phe) c.1291G>T (p.Val431Phe) c.1591G>T (p.Val531Phe) n.2042G>T | |
9 | g.104831683C>G | CA374324706 | ABCA1 | c.1654G>C (p.Val552Leu) c.1474G>C (p.Val492Leu) c.1729G>C (p.Val577Leu) c.1291G>C (p.Val431Leu) c.1591G>C (p.Val531Leu) n.2042G>C | |
9 | g.104831683C>T | CA374324707 | ABCA1 | c.1654G>A (p.Val552Ile) c.1474G>A (p.Val492Ile) c.1729G>A (p.Val577Ile) c.1291G>A (p.Val431Ile) c.1591G>A (p.Val531Ile) n.2042G>A | |
9 | g.104831684A>C | CA374324708 | ABCA1 | c.1653T>G (p.His551Gln) c.1473T>G (p.His491Gln) c.1728T>G (p.His576Gln) c.1290T>G (p.His430Gln) c.1590T>G (p.His530Gln) n.2041T>G | gnomAD v4 |
9 | g.104831684A>G | CA466512574 | ABCA1 | c.1653T>C (p.His551=) c.1473T>C (p.His491=) c.1728T>C (p.His576=) c.1290T>C (p.His430=) c.1590T>C (p.His530=) n.2041T>C | |
9 | g.104831684A>T | CA374324709 | ABCA1 | c.1653T>A (p.His551Gln) c.1473T>A (p.His491Gln) c.1728T>A (p.His576Gln) c.1290T>A (p.His430Gln) c.1590T>A (p.His530Gln) n.2041T>A | |
9 | g.104831687_104831689del | CA2691053457 | ABCA1 | c.1651_1653del (p.His551del) c.1471_1473del (p.His491del) c.1726_1728del (p.His576del) c.1288_1290del (p.His430del) c.1588_1590del (p.His530del) n.2039_2041del | gnomAD v4 |
9 | g.104831685T>A | CA374324710 | ABCA1 | c.1652A>T (p.His551Leu) c.1472A>T (p.His491Leu) c.1727A>T (p.His576Leu) c.1289A>T (p.His430Leu) c.1589A>T (p.His530Leu) n.2040A>T | |
9 | g.104831685T>C | CA374324711 | ABCA1 | c.1652A>G (p.His551Arg) c.1472A>G (p.His491Arg) c.1727A>G (p.His576Arg) c.1289A>G (p.His430Arg) c.1589A>G (p.His530Arg) n.2040A>G | |
9 | g.104831685T>G | CA374324712 | ABCA1 | c.1652A>C (p.His551Pro) c.1472A>C (p.His491Pro) c.1727A>C (p.His576Pro) c.1289A>C (p.His430Pro) c.1589A>C (p.His530Pro) n.2040A>C | gnomAD v4 |
9 | g.104831686G>A | CA374324713 | ABCA1 | c.1651C>T (p.His551Tyr) c.1471C>T (p.His491Tyr) c.1726C>T (p.His576Tyr) c.1288C>T (p.His430Tyr) c.1588C>T (p.His530Tyr) n.2039C>T | |
9 | g.104831686G>C | CA5168959 | ABCA1 | c.1651C>G (p.His551Asp) c.1471C>G (p.His491Asp) c.1726C>G (p.His576Asp) c.1288C>G (p.His430Asp) c.1588C>G (p.His530Asp) n.2039C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831686G= | CA1869925652 | ABCA1 | c.1651C= (p.His551=) c.1471C= (p.His491=) c.1726C= (p.His576=) c.1288C= (p.His430=) c.1588C= (p.His530=) n.2039C= | |
9 | g.104831686G>T | CA374324714 | ABCA1 | c.1651C>A (p.His551Asn) c.1471C>A (p.His491Asn) c.1726C>A (p.His576Asn) c.1288C>A (p.His430Asn) c.1588C>A (p.His530Asn) n.2039C>A | |
9 | g.104831687A>C | CA374324715 | ABCA1 | c.1650T>G (p.His550Gln) c.1470T>G (p.His490Gln) c.1725T>G (p.His575Gln) c.1287T>G (p.His429Gln) c.1587T>G (p.His529Gln) n.2038T>G | |
9 | g.104831687A>G | CA466512592 | ABCA1 | c.1650T>C (p.His550=) c.1470T>C (p.His490=) c.1725T>C (p.His575=) c.1287T>C (p.His429=) c.1587T>C (p.His529=) n.2038T>C | |
9 | g.104831687A>T | CA374324716 | ABCA1 | c.1650T>A (p.His550Gln) c.1470T>A (p.His490Gln) c.1725T>A (p.His575Gln) c.1287T>A (p.His429Gln) c.1587T>A (p.His529Gln) n.2038T>A | |
9 | g.104831688T>A | CA374324717 | ABCA1 | c.1649A>T (p.His550Leu) c.1469A>T (p.His490Leu) c.1724A>T (p.His575Leu) c.1286A>T (p.His429Leu) c.1586A>T (p.His529Leu) n.2037A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831688T>C | CA374324718 | ABCA1 | c.1649A>G (p.His550Arg) c.1469A>G (p.His490Arg) c.1724A>G (p.His575Arg) c.1286A>G (p.His429Arg) c.1586A>G (p.His529Arg) n.2037A>G | |
9 | g.104831688T>G | CA374324719 | ABCA1 | c.1649A>C (p.His550Pro) c.1469A>C (p.His490Pro) c.1724A>C (p.His575Pro) c.1286A>C (p.His429Pro) c.1586A>C (p.His529Pro) n.2037A>C | |
9 | g.104831688T= | CA1869925656 | ABCA1 | c.1649A= (p.His550=) c.1469A= (p.His490=) c.1724A= (p.His575=) c.1286A= (p.His429=) c.1586A= (p.His529=) n.2037A= | |
9 | g.104831689G>A | CA374324720 | ABCA1 | c.1648C>T (p.His550Tyr) c.1468C>T (p.His490Tyr) c.1723C>T (p.His575Tyr) c.1285C>T (p.His429Tyr) c.1585C>T (p.His529Tyr) n.2036C>T | gnomAD v4 |
9 | g.104831689G>C | CA374324721 | ABCA1 | c.1648C>G (p.His550Asp) c.1468C>G (p.His490Asp) c.1723C>G (p.His575Asp) c.1285C>G (p.His429Asp) c.1585C>G (p.His529Asp) n.2036C>G | |
9 | g.104831689G>T | CA374324722 | ABCA1 | c.1648C>A (p.His550Asn) c.1468C>A (p.His490Asn) c.1723C>A (p.His575Asn) c.1285C>A (p.His429Asn) c.1585C>A (p.His529Asn) n.2036C>A | |
9 | g.104831692dup | CA2785407727 | ABCA1 | c.1648dup (p.His550ProfsTer12) c.1468dup (p.His490ProfsTer12) c.1723dup (p.His575ProfsTer12) c.1285dup (p.His429ProfsTer12) c.1585dup (p.His529ProfsTer12) n.2036dup | |
9 | g.104831690G>A | CA5168960 | ABCA1 | c.1647C>T (p.Pro549=) c.1467C>T (p.Pro489=) c.1722C>T (p.Pro574=) c.1284C>T (p.Pro428=) c.1584C>T (p.Pro528=) n.2035C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831690G>C | CA466512607 | ABCA1 | c.1647C>G (p.Pro549=) c.1467C>G (p.Pro489=) c.1722C>G (p.Pro574=) c.1284C>G (p.Pro428=) c.1584C>G (p.Pro528=) n.2035C>G | ClinVar gnomAD v4 |
9 | g.104831690G= | CA1869925661 | ABCA1 | c.1647C= (p.Pro549=) c.1467C= (p.Pro489=) c.1722C= (p.Pro574=) c.1284C= (p.Pro428=) c.1584C= (p.Pro528=) n.2035C= | |
9 | g.104831690G>T | CA466512609 | ABCA1 | c.1647C>A (p.Pro549=) c.1467C>A (p.Pro489=) c.1722C>A (p.Pro574=) c.1284C>A (p.Pro428=) c.1584C>A (p.Pro528=) n.2035C>A | |
9 | g.104831691G>A | CA374324723 | ABCA1 | c.1646C>T (p.Pro549Leu) c.1466C>T (p.Pro489Leu) c.1721C>T (p.Pro574Leu) c.1283C>T (p.Pro428Leu) c.1583C>T (p.Pro528Leu) n.2034C>T | |
9 | g.104831691G>C | CA374324724 | ABCA1 | c.1646C>G (p.Pro549Arg) c.1466C>G (p.Pro489Arg) c.1721C>G (p.Pro574Arg) c.1283C>G (p.Pro428Arg) c.1583C>G (p.Pro528Arg) n.2034C>G | |
9 | g.104831691G>T | CA374324725 | ABCA1 | c.1646C>A (p.Pro549His) c.1466C>A (p.Pro489His) c.1721C>A (p.Pro574His) c.1283C>A (p.Pro428His) c.1583C>A (p.Pro528His) n.2034C>A | |
9 | g.104831691_104831693del | CA2691053458 | ABCA1 | c.1644_1646del (p.Pro549del) c.1464_1466del (p.Pro489del) c.1719_1721del (p.Pro574del) c.1281_1283del (p.Pro428del) c.1581_1583del (p.Pro528del) n.2032_2034del | gnomAD v4 |
9 | g.104831692G>A | CA374324726 | ABCA1 | c.1645C>T (p.Pro549Ser) c.1465C>T (p.Pro489Ser) c.1720C>T (p.Pro574Ser) c.1282C>T (p.Pro428Ser) c.1582C>T (p.Pro528Ser) n.2033C>T | |
9 | g.104831692G>C | CA374324727 | ABCA1 | c.1645C>G (p.Pro549Ala) c.1465C>G (p.Pro489Ala) c.1720C>G (p.Pro574Ala) c.1282C>G (p.Pro428Ala) c.1582C>G (p.Pro528Ala) n.2033C>G | |
9 | g.104831692G>T | CA374324728 | ABCA1 | c.1645C>A (p.Pro549Thr) c.1465C>A (p.Pro489Thr) c.1720C>A (p.Pro574Thr) c.1282C>A (p.Pro428Thr) c.1582C>A (p.Pro528Thr) n.2033C>A | gnomAD v4 |
9 | g.104831693C>A | CA466512624 | ABCA1 | c.1644G>T (p.Leu548=) c.1464G>T (p.Leu488=) c.1719G>T (p.Leu573=) c.1281G>T (p.Leu427=) c.1581G>T (p.Leu527=) n.2032G>T | gnomAD v4 |
9 | g.104831693C>G | CA466512626 | ABCA1 | c.1644G>C (p.Leu548=) c.1464G>C (p.Leu488=) c.1719G>C (p.Leu573=) c.1281G>C (p.Leu427=) c.1581G>C (p.Leu527=) n.2032G>C | |
9 | g.104831693C>T | CA466512628 | ABCA1 | c.1644G>A (p.Leu548=) c.1464G>A (p.Leu488=) c.1719G>A (p.Leu573=) c.1281G>A (p.Leu427=) c.1581G>A (p.Leu527=) n.2032G>A | |
9 | g.104831694A>C | CA374324730 | ABCA1 | c.1643T>G (p.Leu548Arg) c.1463T>G (p.Leu488Arg) c.1718T>G (p.Leu573Arg) c.1280T>G (p.Leu427Arg) c.1580T>G (p.Leu527Arg) n.2031T>G | |
9 | g.104831694A>G | CA374324731 | ABCA1 | c.1643T>C (p.Leu548Pro) c.1463T>C (p.Leu488Pro) c.1718T>C (p.Leu573Pro) c.1280T>C (p.Leu427Pro) c.1580T>C (p.Leu527Pro) n.2031T>C | gnomAD v4 |
9 | g.104831694A>T | CA374324729 | ABCA1 | c.1643T>A (p.Leu548Gln) c.1463T>A (p.Leu488Gln) c.1718T>A (p.Leu573Gln) c.1280T>A (p.Leu427Gln) c.1580T>A (p.Leu527Gln) n.2031T>A | |
9 | g.104831694dup | CA2691053459 | ABCA1 | c.1643dup (p.Pro549AlafsTer13) c.1463dup (p.Pro489AlafsTer13) c.1718dup (p.Pro574AlafsTer13) c.1280dup (p.Pro428AlafsTer13) c.1580dup (p.Pro528AlafsTer13) n.2031dup | gnomAD v4 |
9 | g.104831695G>A | CA466512638 | ABCA1 | c.1642C>T (p.Leu548=) c.1462C>T (p.Leu488=) c.1717C>T (p.Leu573=) c.1279C>T (p.Leu427=) c.1579C>T (p.Leu527=) n.2030C>T | |
9 | g.104831695G>C | CA374324732 | ABCA1 | c.1642C>G (p.Leu548Val) c.1462C>G (p.Leu488Val) c.1717C>G (p.Leu573Val) c.1279C>G (p.Leu427Val) c.1579C>G (p.Leu527Val) n.2030C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831695G= | CA1869925669 | ABCA1 | c.1642C= (p.Leu548=) c.1462C= (p.Leu488=) c.1717C= (p.Leu573=) c.1279C= (p.Leu427=) c.1579C= (p.Leu527=) n.2030C= | |
9 | g.104831695G>T | CA374324733 | ABCA1 | c.1642C>A (p.Leu548Met) c.1462C>A (p.Leu488Met) c.1717C>A (p.Leu573Met) c.1279C>A (p.Leu427Met) c.1579C>A (p.Leu527Met) n.2030C>A | gnomAD v4 |
9 | g.104831698_104831704del | CA2691053460 | ABCA1 | c.1636_1642del (p.Ile546CysfsTer?) c.1456_1462del (p.Ile486CysfsTer?) c.1711_1717del (p.Ile571CysfsTer?) c.1273_1279del (p.Ile425CysfsTer?) c.1573_1579del (p.Ile525CysfsTer?) n.2024_2030del | gnomAD v4 |
9 | g.104831696C>A | CA374324734 | ABCA1 | c.1641G>T (p.Glu547Asp) c.1461G>T (p.Glu487Asp) c.1716G>T (p.Glu572Asp) c.1278G>T (p.Glu426Asp) c.1578G>T (p.Glu526Asp) n.2029G>T | |
9 | g.104831696C= | CA1869925674 | ABCA1 | c.1641G= (p.Glu547=) c.1461G= (p.Glu487=) c.1716G= (p.Glu572=) c.1278G= (p.Glu426=) c.1578G= (p.Glu526=) n.2029G= | |
9 | g.104831696C>G | CA374324735 | ABCA1 | c.1641G>C (p.Glu547Asp) c.1461G>C (p.Glu487Asp) c.1716G>C (p.Glu572Asp) c.1278G>C (p.Glu426Asp) c.1578G>C (p.Glu526Asp) n.2029G>C | |
9 | g.104831696C>T | CA197396962 | ABCA1 | c.1641G>A (p.Glu547=) c.1461G>A (p.Glu487=) c.1716G>A (p.Glu572=) c.1278G>A (p.Glu426=) c.1578G>A (p.Glu526=) n.2029G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831697T>A | CA374324736 | ABCA1 | c.1640A>T (p.Glu547Val) c.1460A>T (p.Glu487Val) c.1715A>T (p.Glu572Val) c.1277A>T (p.Glu426Val) c.1577A>T (p.Glu526Val) n.2028A>T | |
9 | g.104831697T>C | CA374324738 | ABCA1 | c.1640A>G (p.Glu547Gly) c.1460A>G (p.Glu487Gly) c.1715A>G (p.Glu572Gly) c.1277A>G (p.Glu426Gly) c.1577A>G (p.Glu526Gly) n.2028A>G | |
9 | g.104831697T>G | CA374324737 | ABCA1 | c.1640A>C (p.Glu547Ala) c.1460A>C (p.Glu487Ala) c.1715A>C (p.Glu572Ala) c.1277A>C (p.Glu426Ala) c.1577A>C (p.Glu526Ala) n.2028A>C | |
9 | g.104831698C>A | CA374324739 | ABCA1 | c.1639G>T (p.Glu547Ter) c.1459G>T (p.Glu487Ter) c.1714G>T (p.Glu572Ter) c.1276G>T (p.Glu426Ter) c.1576G>T (p.Glu526Ter) n.2027G>T | |
9 | g.104831698C>G | CA374324741 | ABCA1 | c.1639G>C (p.Glu547Gln) c.1459G>C (p.Glu487Gln) c.1714G>C (p.Glu572Gln) c.1276G>C (p.Glu426Gln) c.1576G>C (p.Glu526Gln) n.2027G>C | |
9 | g.104831698C>T | CA374324740 | ABCA1 | c.1639G>A (p.Glu547Lys) c.1459G>A (p.Glu487Lys) c.1714G>A (p.Glu572Lys) c.1276G>A (p.Glu426Lys) c.1576G>A (p.Glu526Lys) n.2027G>A | |
9 | g.104831699A>C | CA374324742 | ABCA1 | c.1638T>G (p.Ile546Met) c.1458T>G (p.Ile486Met) c.1713T>G (p.Ile571Met) c.1275T>G (p.Ile425Met) c.1575T>G (p.Ile525Met) n.2026T>G | |
9 | g.104831699A>G | CA466512665 | ABCA1 | c.1638T>C (p.Ile546=) c.1458T>C (p.Ile486=) c.1713T>C (p.Ile571=) c.1275T>C (p.Ile425=) c.1575T>C (p.Ile525=) n.2026T>C | |
9 | g.104831699A>T | CA466512667 | ABCA1 | c.1638T>A (p.Ile546=) c.1458T>A (p.Ile486=) c.1713T>A (p.Ile571=) c.1275T>A (p.Ile425=) c.1575T>A (p.Ile525=) n.2026T>A | |
9 | g.104831700A= | CA1869925678 | ABCA1 | c.1637T= (p.Ile546=) c.1457T= (p.Ile486=) c.1712T= (p.Ile571=) c.1274T= (p.Ile425=) c.1574T= (p.Ile525=) n.2025T= | |
9 | g.104831700A>C | CA374324743 | ABCA1 | c.1637T>G (p.Ile546Ser) c.1457T>G (p.Ile486Ser) c.1712T>G (p.Ile571Ser) c.1274T>G (p.Ile425Ser) c.1574T>G (p.Ile525Ser) n.2025T>G | |
9 | g.104831700A>G | CA5168962 | ABCA1 | c.1637T>C (p.Ile546Thr) c.1457T>C (p.Ile486Thr) c.1712T>C (p.Ile571Thr) c.1274T>C (p.Ile425Thr) c.1574T>C (p.Ile525Thr) n.2025T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831700A>T | CA374324744 | ABCA1 | c.1637T>A (p.Ile546Asn) c.1457T>A (p.Ile486Asn) c.1712T>A (p.Ile571Asn) c.1274T>A (p.Ile425Asn) c.1574T>A (p.Ile525Asn) n.2025T>A | |
9 | g.104831700_104831701delinsAT | CA1869925681 | ABCA1 | c.1636_1637delinsAT (p.Ile546=) c.1456_1457delinsAT (p.Ile486=) c.1711_1712delinsAT (p.Ile571=) c.1273_1274delinsAT (p.Ile425=) c.1573_1574delinsAT (p.Ile525=) n.2024_2025delinsAT | |
9 | g.104831700_104831702delinsATG | CA1869925683 | ABCA1 | c.1635_1637delinsCAT (p.Ser545=) c.1455_1457delinsCAT (p.Ser485=) c.1710_1712delinsCAT (p.Ser570=) c.1272_1274delinsCAT (p.Ser424=) c.1572_1574delinsCAT (p.Ser524=) n.2023_2025delinsCAT | |
9 | g.104831701del | CA197396985 | ABCA1 | c.1636del (p.Ile546LeufsTer?) c.1456del (p.Ile486LeufsTer?) c.1711del (p.Ile571LeufsTer?) c.1273del (p.Ile425LeufsTer?) c.1573del (p.Ile525LeufsTer?) n.2024del | dbSNP |
9 | g.104831701T>A | CA374324745 | ABCA1 | c.1636A>T (p.Ile546Phe) c.1456A>T (p.Ile486Phe) c.1711A>T (p.Ile571Phe) c.1273A>T (p.Ile425Phe) c.1573A>T (p.Ile525Phe) n.2024A>T | |
9 | g.104831701T>C | CA5168963 | ABCA1 | c.1636A>G (p.Ile546Val) c.1456A>G (p.Ile486Val) c.1711A>G (p.Ile571Val) c.1273A>G (p.Ile425Val) c.1573A>G (p.Ile525Val) n.2024A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831701T>G | CA374324746 | ABCA1 | c.1636A>C (p.Ile546Leu) c.1456A>C (p.Ile486Leu) c.1711A>C (p.Ile571Leu) c.1273A>C (p.Ile425Leu) c.1573A>C (p.Ile525Leu) n.2024A>C | |
9 | g.104831701T= | CA1869925691 | ABCA1 | c.1636A= (p.Ile546=) c.1456A= (p.Ile486=) c.1711A= (p.Ile571=) c.1273A= (p.Ile425=) c.1573A= (p.Ile525=) n.2024A= | |
9 | g.104831701_104831702delinsA | CA197396982 | ABCA1 | c.1635_1636delinsT (p.Ile546LeufsTer?) c.1455_1456delinsT (p.Ile486LeufsTer?) c.1710_1711delinsT (p.Ile571LeufsTer?) c.1272_1273delinsT (p.Ile425LeufsTer?) c.1572_1573delinsT (p.Ile525LeufsTer?) n.2023_2024delinsT | dbSNP |
9 | g.104831704_104831706dup | CA5168961 | ABCA1 | c.1634_1636dup (p.Ser545_Ile546insSer) c.1454_1456dup (p.Ser485_Ile486insSer) c.1709_1711dup (p.Ser570_Ile571insSer) c.1271_1273dup (p.Ser424_Ile425insSer) c.1571_1573dup (p.Ser524_Ile525insSer) n.2022_2024dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831702G>A | CA5168964 | ABCA1 | c.1635C>T (p.Ser545=) c.1455C>T (p.Ser485=) c.1710C>T (p.Ser570=) c.1272C>T (p.Ser424=) c.1572C>T (p.Ser524=) n.2023C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831702G>C | CA374324747 | ABCA1 | c.1635C>G (p.Ser545Arg) c.1455C>G (p.Ser485Arg) c.1710C>G (p.Ser570Arg) c.1272C>G (p.Ser424Arg) c.1572C>G (p.Ser524Arg) n.2023C>G | |
9 | g.104831702G= | CA1869925711 | ABCA1 | c.1635C= (p.Ser545=) c.1455C= (p.Ser485=) c.1710C= (p.Ser570=) c.1272C= (p.Ser424=) c.1572C= (p.Ser524=) n.2023C= | |
9 | g.104831702G>T | CA374324748 | ABCA1 | c.1635C>A (p.Ser545Arg) c.1455C>A (p.Ser485Arg) c.1710C>A (p.Ser570Arg) c.1272C>A (p.Ser424Arg) c.1572C>A (p.Ser524Arg) n.2023C>A | |
9 | g.104831703C>A | CA374324750 | ABCA1 | c.1634G>T (p.Ser545Ile) c.1454G>T (p.Ser485Ile) c.1709G>T (p.Ser570Ile) c.1271G>T (p.Ser424Ile) c.1571G>T (p.Ser524Ile) n.2022G>T | |
9 | g.104831703C= | CA1869925717 | ABCA1 | c.1634G= (p.Ser545=) c.1454G= (p.Ser485=) c.1709G= (p.Ser570=) c.1271G= (p.Ser424=) c.1571G= (p.Ser524=) n.2022G= | |
9 | g.104831703C>G | CA374324749 | ABCA1 | c.1634G>C (p.Ser545Thr) c.1454G>C (p.Ser485Thr) c.1709G>C (p.Ser570Thr) c.1271G>C (p.Ser424Thr) c.1571G>C (p.Ser524Thr) n.2022G>C | |
9 | g.104831703C>T | CA5168965 | ABCA1 | c.1634G>A (p.Ser545Asn) c.1454G>A (p.Ser485Asn) c.1709G>A (p.Ser570Asn) c.1271G>A (p.Ser424Asn) c.1571G>A (p.Ser524Asn) n.2022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831704T>A | CA374324751 | ABCA1 | c.1633A>T (p.Ser545Cys) c.1453A>T (p.Ser485Cys) c.1708A>T (p.Ser570Cys) c.1270A>T (p.Ser424Cys) c.1570A>T (p.Ser524Cys) n.2021A>T | |
9 | g.104831704T>C | CA374324752 | ABCA1 | c.1633A>G (p.Ser545Gly) c.1453A>G (p.Ser485Gly) c.1708A>G (p.Ser570Gly) c.1270A>G (p.Ser424Gly) c.1570A>G (p.Ser524Gly) n.2021A>G | gnomAD v4 |
9 | g.104831704T>G | CA374324753 | ABCA1 | c.1633A>C (p.Ser545Arg) c.1453A>C (p.Ser485Arg) c.1708A>C (p.Ser570Arg) c.1270A>C (p.Ser424Arg) c.1570A>C (p.Ser524Arg) n.2021A>C | |
9 | g.104831705G>A | CA466512707 | ABCA1 | c.1632C>T (p.Gly544=) c.1452C>T (p.Gly484=) c.1707C>T (p.Gly569=) c.1269C>T (p.Gly423=) c.1569C>T (p.Gly523=) n.2020C>T | COSMIC |
9 | g.104831705G>C | CA466512705 | ABCA1 | c.1632C>G (p.Gly544=) c.1452C>G (p.Gly484=) c.1707C>G (p.Gly569=) c.1269C>G (p.Gly423=) c.1569C>G (p.Gly523=) n.2020C>G | |
9 | g.104831705G>T | CA466512703 | ABCA1 | c.1632C>A (p.Gly544=) c.1452C>A (p.Gly484=) c.1707C>A (p.Gly569=) c.1269C>A (p.Gly423=) c.1569C>A (p.Gly523=) n.2020C>A | |
9 | g.104831706C>A | CA374324754 | ABCA1 | c.1631G>T (p.Gly544Val) c.1451G>T (p.Gly484Val) c.1706G>T (p.Gly569Val) c.1268G>T (p.Gly423Val) c.1568G>T (p.Gly523Val) n.2019G>T | |
9 | g.104831706C>G | CA374324755 | ABCA1 | c.1631G>C (p.Gly544Ala) c.1451G>C (p.Gly484Ala) c.1706G>C (p.Gly569Ala) c.1268G>C (p.Gly423Ala) c.1568G>C (p.Gly523Ala) n.2019G>C | |
9 | g.104831706C>T | CA374324756 | ABCA1 | c.1631G>A (p.Gly544Asp) c.1451G>A (p.Gly484Asp) c.1706G>A (p.Gly569Asp) c.1268G>A (p.Gly423Asp) c.1568G>A (p.Gly523Asp) n.2019G>A | gnomAD v4 |
9 | g.104831707C>A | CA374324757 | ABCA1 | c.1630G>T (p.Gly544Cys) c.1450G>T (p.Gly484Cys) c.1705G>T (p.Gly569Cys) c.1267G>T (p.Gly423Cys) c.1567G>T (p.Gly523Cys) n.2018G>T | |
9 | g.104831707C>G | CA374324758 | ABCA1 | c.1630G>C (p.Gly544Arg) c.1450G>C (p.Gly484Arg) c.1705G>C (p.Gly569Arg) c.1267G>C (p.Gly423Arg) c.1567G>C (p.Gly523Arg) n.2018G>C | |
9 | g.104831707C>T | CA374324759 | ABCA1 | c.1630G>A (p.Gly544Ser) c.1450G>A (p.Gly484Ser) c.1705G>A (p.Gly569Ser) c.1267G>A (p.Gly423Ser) c.1567G>A (p.Gly523Ser) n.2018G>A | |
9 | g.104831708T>A | CA466512724 | ABCA1 | c.1629A>T (p.Pro543=) c.1449A>T (p.Pro483=) c.1704A>T (p.Pro568=) c.1266A>T (p.Pro422=) c.1566A>T (p.Pro522=) n.2017A>T | gnomAD v4 |
9 | g.104831708T>C | CA466512722 | ABCA1 | c.1629A>G (p.Pro543=) c.1449A>G (p.Pro483=) c.1704A>G (p.Pro568=) c.1266A>G (p.Pro422=) c.1566A>G (p.Pro522=) n.2017A>G | |
9 | g.104831708T>G | CA466512720 | ABCA1 | c.1629A>C (p.Pro543=) c.1449A>C (p.Pro483=) c.1704A>C (p.Pro568=) c.1266A>C (p.Pro422=) c.1566A>C (p.Pro522=) n.2017A>C | |
9 | g.104831709G>A | CA374324762 | ABCA1 | c.1628C>T (p.Pro543Leu) c.1448C>T (p.Pro483Leu) c.1703C>T (p.Pro568Leu) c.1265C>T (p.Pro422Leu) c.1565C>T (p.Pro522Leu) n.2016C>T | |
9 | g.104831709G>C | CA374324761 | ABCA1 | c.1628C>G (p.Pro543Arg) c.1448C>G (p.Pro483Arg) c.1703C>G (p.Pro568Arg) c.1265C>G (p.Pro422Arg) c.1565C>G (p.Pro522Arg) n.2016C>G | |
9 | g.104831709G>T | CA374324760 | ABCA1 | c.1628C>A (p.Pro543Gln) c.1448C>A (p.Pro483Gln) c.1703C>A (p.Pro568Gln) c.1265C>A (p.Pro422Gln) c.1565C>A (p.Pro522Gln) n.2016C>A | gnomAD v4 |
9 | g.104831710G>A | CA374324763 | ABCA1 | c.1627C>T (p.Pro543Ser) c.1447C>T (p.Pro483Ser) c.1702C>T (p.Pro568Ser) c.1264C>T (p.Pro422Ser) c.1564C>T (p.Pro522Ser) n.2015C>T | |
9 | g.104831710G>C | CA374324764 | ABCA1 | c.1627C>G (p.Pro543Ala) c.1447C>G (p.Pro483Ala) c.1702C>G (p.Pro568Ala) c.1264C>G (p.Pro422Ala) c.1564C>G (p.Pro522Ala) n.2015C>G | |
9 | g.104831710G>T | CA374324765 | ABCA1 | c.1627C>A (p.Pro543Thr) c.1447C>A (p.Pro483Thr) c.1702C>A (p.Pro568Thr) c.1264C>A (p.Pro422Thr) c.1564C>A (p.Pro522Thr) n.2015C>A | |
9 | g.104831711A= | CA1869925722 | ABCA1 | c.1626T= (p.Thr542=) c.1446T= (p.Thr482=) c.1701T= (p.Thr567=) c.1263T= (p.Thr421=) c.1563T= (p.Thr521=) n.2014T= | |
9 | g.104831711A>C | CA5168966 | ABCA1 | c.1626T>G (p.Thr542=) c.1446T>G (p.Thr482=) c.1701T>G (p.Thr567=) c.1263T>G (p.Thr421=) c.1563T>G (p.Thr521=) n.2014T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831711A>G | CA466512741 | ABCA1 | c.1626T>C (p.Thr542=) c.1446T>C (p.Thr482=) c.1701T>C (p.Thr567=) c.1263T>C (p.Thr421=) c.1563T>C (p.Thr521=) n.2014T>C | |
9 | g.104831711A>T | CA466512738 | ABCA1 | c.1626T>A (p.Thr542=) c.1446T>A (p.Thr482=) c.1701T>A (p.Thr567=) c.1263T>A (p.Thr421=) c.1563T>A (p.Thr521=) n.2014T>A | |
9 | g.104831712G>A | CA374324766 | ABCA1 | c.1625C>T (p.Thr542Ile) c.1445C>T (p.Thr482Ile) c.1700C>T (p.Thr567Ile) c.1262C>T (p.Thr421Ile) c.1562C>T (p.Thr521Ile) n.2013C>T | gnomAD v4 |
9 | g.104831712G>C | CA374324767 | ABCA1 | c.1625C>G (p.Thr542Ser) c.1445C>G (p.Thr482Ser) c.1700C>G (p.Thr567Ser) c.1262C>G (p.Thr421Ser) c.1562C>G (p.Thr521Ser) n.2013C>G | |
9 | g.104831712G>T | CA374324768 | ABCA1 | c.1625C>A (p.Thr542Asn) c.1445C>A (p.Thr482Asn) c.1700C>A (p.Thr567Asn) c.1262C>A (p.Thr421Asn) c.1562C>A (p.Thr521Asn) n.2013C>A | |
9 | g.104831713T>A | CA374324769 | ABCA1 | c.1624A>T (p.Thr542Ser) c.1444A>T (p.Thr482Ser) c.1699A>T (p.Thr567Ser) c.1261A>T (p.Thr421Ser) c.1561A>T (p.Thr521Ser) n.2012A>T | |
9 | g.104831713T>C | CA374324770 | ABCA1 | c.1624A>G (p.Thr542Ala) c.1444A>G (p.Thr482Ala) c.1699A>G (p.Thr567Ala) c.1261A>G (p.Thr421Ala) c.1561A>G (p.Thr521Ala) n.2012A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831713T>G | CA374324771 | ABCA1 | c.1624A>C (p.Thr542Pro) c.1444A>C (p.Thr482Pro) c.1699A>C (p.Thr567Pro) c.1261A>C (p.Thr421Pro) c.1561A>C (p.Thr521Pro) n.2012A>C | |
9 | g.104831713T= | CA1869925729 | ABCA1 | c.1624A= (p.Thr542=) c.1444A= (p.Thr482=) c.1699A= (p.Thr567=) c.1261A= (p.Thr421=) c.1561A= (p.Thr521=) n.2012A= | |
9 | g.104831714A>C | CA374324772 | ABCA1 | c.1623T>G (p.Ile541Met) c.1443T>G (p.Ile481Met) c.1698T>G (p.Ile566Met) c.1260T>G (p.Ile420Met) c.1560T>G (p.Ile520Met) n.2011T>G | |
9 | g.104831714A>G | CA466512756 | ABCA1 | c.1623T>C (p.Ile541=) c.1443T>C (p.Ile481=) c.1698T>C (p.Ile566=) c.1260T>C (p.Ile420=) c.1560T>C (p.Ile520=) n.2011T>C | |
9 | g.104831714A>T | CA466512758 | ABCA1 | c.1623T>A (p.Ile541=) c.1443T>A (p.Ile481=) c.1698T>A (p.Ile566=) c.1260T>A (p.Ile420=) c.1560T>A (p.Ile520=) n.2011T>A | |
9 | g.104831715A>C | CA374324775 | ABCA1 | c.1622T>G (p.Ile541Ser) c.1442T>G (p.Ile481Ser) c.1697T>G (p.Ile566Ser) c.1259T>G (p.Ile420Ser) c.1559T>G (p.Ile520Ser) n.2010T>G | |
9 | g.104831715A>G | CA374324774 | ABCA1 | c.1622T>C (p.Ile541Thr) c.1442T>C (p.Ile481Thr) c.1697T>C (p.Ile566Thr) c.1259T>C (p.Ile420Thr) c.1559T>C (p.Ile520Thr) n.2010T>C | |
9 | g.104831715A>T | CA374324773 | ABCA1 | c.1622T>A (p.Ile541Asn) c.1442T>A (p.Ile481Asn) c.1697T>A (p.Ile566Asn) c.1259T>A (p.Ile420Asn) c.1559T>A (p.Ile520Asn) n.2010T>A | |
9 | g.104831716T>A | CA374324776 | ABCA1 | c.1621A>T (p.Ile541Phe) c.1441A>T (p.Ile481Phe) c.1696A>T (p.Ile566Phe) c.1258A>T (p.Ile420Phe) c.1558A>T (p.Ile520Phe) n.2009A>T | |
9 | g.104831716T>C | CA5168967 | ABCA1 | c.1621A>G (p.Ile541Val) c.1441A>G (p.Ile481Val) c.1696A>G (p.Ile566Val) c.1258A>G (p.Ile420Val) c.1558A>G (p.Ile520Val) n.2009A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831716T>G | CA374324777 | ABCA1 | c.1621A>C (p.Ile541Leu) c.1441A>C (p.Ile481Leu) c.1696A>C (p.Ile566Leu) c.1258A>C (p.Ile420Leu) c.1558A>C (p.Ile520Leu) n.2009A>C | |
9 | g.104831716T= | CA1869925735 | ABCA1 | c.1621A= (p.Ile541=) c.1441A= (p.Ile481=) c.1696A= (p.Ile566=) c.1258A= (p.Ile420=) c.1558A= (p.Ile520=) n.2009A= | |
9 | g.104831717T>A | CA466512774 | ABCA1 | c.1620A>T (p.Gly540=) c.1440A>T (p.Gly480=) c.1695A>T (p.Gly565=) c.1257A>T (p.Gly419=) c.1557A>T (p.Gly519=) n.2008A>T | ClinVar dbSNP gnomAD v4 |
9 | g.104831717T>C | CA466512776 | ABCA1 | c.1620A>G (p.Gly540=) c.1440A>G (p.Gly480=) c.1695A>G (p.Gly565=) c.1257A>G (p.Gly419=) c.1557A>G (p.Gly519=) n.2008A>G | |
9 | g.104831717T>G | CA466512779 | ABCA1 | c.1620A>C (p.Gly540=) c.1440A>C (p.Gly480=) c.1695A>C (p.Gly565=) c.1257A>C (p.Gly419=) c.1557A>C (p.Gly519=) n.2008A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831717T= | CA1869925738 | ABCA1 | c.1620A= (p.Gly540=) c.1440A= (p.Gly480=) c.1695A= (p.Gly565=) c.1257A= (p.Gly419=) c.1557A= (p.Gly519=) n.2008A= | |
9 | g.104831718C>A | CA374324778 | ABCA1 | c.1619G>T (p.Gly540Val) c.1439G>T (p.Gly480Val) c.1694G>T (p.Gly565Val) c.1256G>T (p.Gly419Val) c.1556G>T (p.Gly519Val) n.2007G>T | |
9 | g.104831718C>G | CA374324779 | ABCA1 | c.1619G>C (p.Gly540Ala) c.1439G>C (p.Gly480Ala) c.1694G>C (p.Gly565Ala) c.1256G>C (p.Gly419Ala) c.1556G>C (p.Gly519Ala) n.2007G>C | |
9 | g.104831718C>T | CA374324780 | ABCA1 | c.1619G>A (p.Gly540Glu) c.1439G>A (p.Gly480Glu) c.1694G>A (p.Gly565Glu) c.1256G>A (p.Gly419Glu) c.1556G>A (p.Gly519Glu) n.2007G>A | |
9 | g.104831719C>A | CA374324781 | ABCA1 | c.1618G>T (p.Gly540Ter) c.1438G>T (p.Gly480Ter) c.1693G>T (p.Gly565Ter) c.1255G>T (p.Gly419Ter) c.1555G>T (p.Gly519Ter) n.2006G>T | |
9 | g.104831719C>G | CA374324782 | ABCA1 | c.1618G>C (p.Gly540Arg) c.1438G>C (p.Gly480Arg) c.1693G>C (p.Gly565Arg) c.1255G>C (p.Gly419Arg) c.1555G>C (p.Gly519Arg) n.2006G>C | |
9 | g.104831719C>T | CA374324783 | ABCA1 | c.1618G>A (p.Gly540Arg) c.1438G>A (p.Gly480Arg) c.1693G>A (p.Gly565Arg) c.1255G>A (p.Gly419Arg) c.1555G>A (p.Gly519Arg) n.2006G>A | gnomAD v4 |
9 | g.104831720A>C | CA466512793 | ABCA1 | c.1617T>G (p.Thr539=) c.1437T>G (p.Thr479=) c.1692T>G (p.Thr564=) c.1254T>G (p.Thr418=) c.1554T>G (p.Thr518=) n.2005T>G | |
9 | g.104831720A>G | CA466512795 | ABCA1 | c.1617T>C (p.Thr539=) c.1437T>C (p.Thr479=) c.1692T>C (p.Thr564=) c.1254T>C (p.Thr418=) c.1554T>C (p.Thr518=) n.2005T>C | |
9 | g.104831720A>T | CA466512797 | ABCA1 | c.1617T>A (p.Thr539=) c.1437T>A (p.Thr479=) c.1692T>A (p.Thr564=) c.1254T>A (p.Thr418=) c.1554T>A (p.Thr518=) n.2005T>A | |
9 | g.104831721G>A | CA374324784 | ABCA1 | c.1616C>T (p.Thr539Ile) c.1436C>T (p.Thr479Ile) c.1691C>T (p.Thr564Ile) c.1253C>T (p.Thr418Ile) c.1553C>T (p.Thr518Ile) n.2004C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831721G>C | CA374324785 | ABCA1 | c.1616C>G (p.Thr539Ser) c.1436C>G (p.Thr479Ser) c.1691C>G (p.Thr564Ser) c.1253C>G (p.Thr418Ser) c.1553C>G (p.Thr518Ser) n.2004C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831721G= | CA1869925746 | ABCA1 | c.1616C= (p.Thr539=) c.1436C= (p.Thr479=) c.1691C= (p.Thr564=) c.1253C= (p.Thr418=) c.1553C= (p.Thr518=) n.2004C= | |
9 | g.104831721G>T | CA374324786 | ABCA1 | c.1616C>A (p.Thr539Asn) c.1436C>A (p.Thr479Asn) c.1691C>A (p.Thr564Asn) c.1253C>A (p.Thr418Asn) c.1553C>A (p.Thr518Asn) n.2004C>A | |
9 | g.104831722T>A | CA374324787 | ABCA1 | c.1615A>T (p.Thr539Ser) c.1435A>T (p.Thr479Ser) c.1690A>T (p.Thr564Ser) c.1252A>T (p.Thr418Ser) c.1552A>T (p.Thr518Ser) n.2003A>T | |
9 | g.104831722T>C | CA374324788 | ABCA1 | c.1615A>G (p.Thr539Ala) c.1435A>G (p.Thr479Ala) c.1690A>G (p.Thr564Ala) c.1252A>G (p.Thr418Ala) c.1552A>G (p.Thr518Ala) n.2003A>G | |
9 | g.104831722T>G | CA197397027 | ABCA1 | c.1615A>C (p.Thr539Pro) c.1435A>C (p.Thr479Pro) c.1690A>C (p.Thr564Pro) c.1252A>C (p.Thr418Pro) c.1552A>C (p.Thr518Pro) n.2003A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831722T= | CA1869925752 | ABCA1 | c.1615A= (p.Thr539=) c.1435A= (p.Thr479=) c.1690A= (p.Thr564=) c.1252A= (p.Thr418=) c.1552A= (p.Thr518=) n.2003A= | |
9 | g.104831723G>A | CA5168968 | ABCA1 | c.1614C>T (p.Phe538=) c.1434C>T (p.Phe478=) c.1689C>T (p.Phe563=) c.1251C>T (p.Phe417=) c.1551C>T (p.Phe517=) n.2002C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831723G>C | CA374324789 | ABCA1 | c.1614C>G (p.Phe538Leu) c.1434C>G (p.Phe478Leu) c.1689C>G (p.Phe563Leu) c.1251C>G (p.Phe417Leu) c.1551C>G (p.Phe517Leu) n.2002C>G | |
9 | g.104831723G= | CA1869925758 | ABCA1 | c.1614C= (p.Phe538=) c.1434C= (p.Phe478=) c.1689C= (p.Phe563=) c.1251C= (p.Phe417=) c.1551C= (p.Phe517=) n.2002C= | |
9 | g.104831723G>T | CA374324790 | ABCA1 | c.1614C>A (p.Phe538Leu) c.1434C>A (p.Phe478Leu) c.1689C>A (p.Phe563Leu) c.1251C>A (p.Phe417Leu) c.1551C>A (p.Phe517Leu) n.2002C>A | gnomAD v4 |
9 | g.104831724A>C | CA374324791 | ABCA1 | c.1613T>G (p.Phe538Cys) c.1433T>G (p.Phe478Cys) c.1688T>G (p.Phe563Cys) c.1250T>G (p.Phe417Cys) c.1550T>G (p.Phe517Cys) n.2001T>G | |
9 | g.104831724A>G | CA374324792 | ABCA1 | c.1613T>C (p.Phe538Ser) c.1433T>C (p.Phe478Ser) c.1688T>C (p.Phe563Ser) c.1250T>C (p.Phe417Ser) c.1550T>C (p.Phe517Ser) n.2001T>C | |
9 | g.104831724A>T | CA374324793 | ABCA1 | c.1613T>A (p.Phe538Tyr) c.1433T>A (p.Phe478Tyr) c.1688T>A (p.Phe563Tyr) c.1250T>A (p.Phe417Tyr) c.1550T>A (p.Phe517Tyr) n.2001T>A | |
9 | g.104831725A>C | CA374324794 | ABCA1 | c.1612T>G (p.Phe538Val) c.1432T>G (p.Phe478Val) c.1687T>G (p.Phe563Val) c.1249T>G (p.Phe417Val) c.1549T>G (p.Phe517Val) n.2000T>G | |
9 | g.104831725A>G | CA374324795 | ABCA1 | c.1612T>C (p.Phe538Leu) c.1432T>C (p.Phe478Leu) c.1687T>C (p.Phe563Leu) c.1249T>C (p.Phe417Leu) c.1549T>C (p.Phe517Leu) n.2000T>C | |
9 | g.104831725A>T | CA374324796 | ABCA1 | c.1612T>A (p.Phe538Ile) c.1432T>A (p.Phe478Ile) c.1687T>A (p.Phe563Ile) c.1249T>A (p.Phe417Ile) c.1549T>A (p.Phe517Ile) n.2000T>A | |
9 | g.104831726C>A | CA466512831 | ABCA1 | c.1611G>T (p.Val537=) c.1431G>T (p.Val477=) c.1686G>T (p.Val562=) c.1248G>T (p.Val416=) c.1548G>T (p.Val516=) n.1999G>T | |
9 | g.104831726C= | CA1869925772 | ABCA1 | c.1611G= (p.Val537=) c.1431G= (p.Val477=) c.1686G= (p.Val562=) c.1248G= (p.Val416=) c.1548G= (p.Val516=) n.1999G= | |
9 | g.104831726C>G | CA466512833 | ABCA1 | c.1611G>C (p.Val537=) c.1431G>C (p.Val477=) c.1686G>C (p.Val562=) c.1248G>C (p.Val416=) c.1548G>C (p.Val516=) n.1999G>C | |
9 | g.104831726C>T | CA466512836 | ABCA1 | c.1611G>A (p.Val537=) c.1431G>A (p.Val477=) c.1686G>A (p.Val562=) c.1248G>A (p.Val416=) c.1548G>A (p.Val516=) n.1999G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831727A>C | CA374324797 | ABCA1 | c.1610T>G (p.Val537Gly) c.1430T>G (p.Val477Gly) c.1685T>G (p.Val562Gly) c.1247T>G (p.Val416Gly) c.1547T>G (p.Val516Gly) n.1998T>G | |
9 | g.104831727A>G | CA374324798 | ABCA1 | c.1610T>C (p.Val537Ala) c.1430T>C (p.Val477Ala) c.1685T>C (p.Val562Ala) c.1247T>C (p.Val416Ala) c.1547T>C (p.Val516Ala) n.1998T>C | |
9 | g.104831727A>T | CA374324799 | ABCA1 | c.1610T>A (p.Val537Glu) c.1430T>A (p.Val477Glu) c.1685T>A (p.Val562Glu) c.1247T>A (p.Val416Glu) c.1547T>A (p.Val516Glu) n.1998T>A | |
9 | g.104831728C>A | CA374324800 | ABCA1 | c.1609G>T (p.Val537Leu) c.1429G>T (p.Val477Leu) c.1684G>T (p.Val562Leu) c.1246G>T (p.Val416Leu) c.1546G>T (p.Val516Leu) n.1997G>T | |
9 | g.104831728C>G | CA374324801 | ABCA1 | c.1609G>C (p.Val537Leu) c.1429G>C (p.Val477Leu) c.1684G>C (p.Val562Leu) c.1246G>C (p.Val416Leu) c.1546G>C (p.Val516Leu) n.1997G>C | |
9 | g.104831728C>T | CA374324802 | ABCA1 | c.1609G>A (p.Val537Met) c.1429G>A (p.Val477Met) c.1684G>A (p.Val562Met) c.1246G>A (p.Val416Met) c.1546G>A (p.Val516Met) n.1997G>A | ClinVar dbSNP gnomAD v4 |
9 | g.104831729A>C | CA374324803 | ABCA1 | c.1608T>G (p.Ile536Met) c.1428T>G (p.Ile476Met) c.1683T>G (p.Ile561Met) c.1245T>G (p.Ile415Met) c.1545T>G (p.Ile515Met) n.1996T>G | gnomAD v4 |
9 | g.104831729A>G | CA466512850 | ABCA1 | c.1608T>C (p.Ile536=) c.1428T>C (p.Ile476=) c.1683T>C (p.Ile561=) c.1245T>C (p.Ile415=) c.1545T>C (p.Ile515=) n.1996T>C | |
9 | g.104831729A>T | CA466512852 | ABCA1 | c.1608T>A (p.Ile536=) c.1428T>A (p.Ile476=) c.1683T>A (p.Ile561=) c.1245T>A (p.Ile415=) c.1545T>A (p.Ile515=) n.1996T>A | |
9 | g.104831730A>C | CA374324804 | ABCA1 | c.1607T>G (p.Ile536Ser) c.1427T>G (p.Ile476Ser) c.1682T>G (p.Ile561Ser) c.1244T>G (p.Ile415Ser) c.1544T>G (p.Ile515Ser) n.1995T>G | |
9 | g.104831730A>G | CA374324805 | ABCA1 | c.1607T>C (p.Ile536Thr) c.1427T>C (p.Ile476Thr) c.1682T>C (p.Ile561Thr) c.1244T>C (p.Ile415Thr) c.1544T>C (p.Ile515Thr) n.1995T>C | |
9 | g.104831730A>T | CA374324806 | ABCA1 | c.1607T>A (p.Ile536Asn) c.1427T>A (p.Ile476Asn) c.1682T>A (p.Ile561Asn) c.1244T>A (p.Ile415Asn) c.1544T>A (p.Ile515Asn) n.1995T>A | |
9 | g.104831731T>A | CA374324807 | ABCA1 | c.1606A>T (p.Ile536Phe) c.1426A>T (p.Ile476Phe) c.1681A>T (p.Ile561Phe) c.1243A>T (p.Ile415Phe) c.1543A>T (p.Ile515Phe) n.1994A>T | |
9 | g.104831731T>C | CA374324808 | ABCA1 | c.1606A>G (p.Ile536Val) c.1426A>G (p.Ile476Val) c.1681A>G (p.Ile561Val) c.1243A>G (p.Ile415Val) c.1543A>G (p.Ile515Val) n.1994A>G | |
9 | g.104831731T>G | CA374324809 | ABCA1 | c.1606A>C (p.Ile536Leu) c.1426A>C (p.Ile476Leu) c.1681A>C (p.Ile561Leu) c.1243A>C (p.Ile415Leu) c.1543A>C (p.Ile515Leu) n.1994A>C | |
9 | g.104831732A>C | CA466512871 | ABCA1 | c.1605T>G (p.Gly535=) c.1425T>G (p.Gly475=) c.1680T>G (p.Gly560=) c.1242T>G (p.Gly414=) c.1542T>G (p.Gly514=) n.1993T>G | |
9 | g.104831732A>G | CA466512866 | ABCA1 | c.1605T>C (p.Gly535=) c.1425T>C (p.Gly475=) c.1680T>C (p.Gly560=) c.1242T>C (p.Gly414=) c.1542T>C (p.Gly514=) n.1993T>C | |
9 | g.104831732A>T | CA466512869 | ABCA1 | c.1605T>A (p.Gly535=) c.1425T>A (p.Gly475=) c.1680T>A (p.Gly560=) c.1242T>A (p.Gly414=) c.1542T>A (p.Gly514=) n.1993T>A | |
9 | g.104831733C>A | CA374324810 | ABCA1 | c.1604G>T (p.Gly535Val) c.1424G>T (p.Gly475Val) c.1679G>T (p.Gly560Val) c.1241G>T (p.Gly414Val) c.1541G>T (p.Gly514Val) n.1992G>T | |
9 | g.104831733C>G | CA374324811 | ABCA1 | c.1604G>C (p.Gly535Ala) c.1424G>C (p.Gly475Ala) c.1679G>C (p.Gly560Ala) c.1241G>C (p.Gly414Ala) c.1541G>C (p.Gly514Ala) n.1992G>C | |
9 | g.104831733C>T | CA374324812 | ABCA1 | c.1604G>A (p.Gly535Asp) c.1424G>A (p.Gly475Asp) c.1679G>A (p.Gly560Asp) c.1241G>A (p.Gly414Asp) c.1541G>A (p.Gly514Asp) n.1992G>A | |
9 | g.104831734C>A | CA374324813 | ABCA1 | c.1603G>T (p.Gly535Cys) c.1423G>T (p.Gly475Cys) c.1678G>T (p.Gly560Cys) c.1240G>T (p.Gly414Cys) c.1540G>T (p.Gly514Cys) n.1991G>T | |
9 | g.104831734C>G | CA374324814 | ABCA1 | c.1603G>C (p.Gly535Arg) c.1423G>C (p.Gly475Arg) c.1678G>C (p.Gly560Arg) c.1240G>C (p.Gly414Arg) c.1540G>C (p.Gly514Arg) n.1991G>C | |
9 | g.104831734C>T | CA374324815 | ABCA1 | c.1603G>A (p.Gly535Ser) c.1423G>A (p.Gly475Ser) c.1678G>A (p.Gly560Ser) c.1240G>A (p.Gly414Ser) c.1540G>A (p.Gly514Ser) n.1991G>A | |
9 | g.104831734_104831735insGTA | CA2691053461 | ABCA1 | c.1602_1603insTAC (p.Ala534_Gly535insTyr) c.1422_1423insTAC (p.Ala474_Gly475insTyr) c.1677_1678insTAC (p.Ala559_Gly560insTyr) c.1239_1240insTAC (p.Ala413_Gly414insTyr) c.1539_1540insTAC (p.Ala513_Gly514insTyr) n.1990_1991insTAC | gnomAD v4 |
9 | g.104831735A>C | CA466512886 | ABCA1 | c.1602T>G (p.Ala534=) c.1422T>G (p.Ala474=) c.1677T>G (p.Ala559=) c.1239T>G (p.Ala413=) c.1539T>G (p.Ala513=) n.1990T>G | |
9 | g.104831735A>G | CA466512887 | ABCA1 | c.1602T>C (p.Ala534=) c.1422T>C (p.Ala474=) c.1677T>C (p.Ala559=) c.1239T>C (p.Ala413=) c.1539T>C (p.Ala513=) n.1990T>C | gnomAD v4 |
9 | g.104831735A>T | CA466512889 | ABCA1 | c.1602T>A (p.Ala534=) c.1422T>A (p.Ala474=) c.1677T>A (p.Ala559=) c.1239T>A (p.Ala413=) c.1539T>A (p.Ala513=) n.1990T>A | |
9 | g.104831736G>A | CA374324818 | ABCA1 | c.1601C>T (p.Ala534Val) c.1421C>T (p.Ala474Val) c.1676C>T (p.Ala559Val) c.1238C>T (p.Ala413Val) c.1538C>T (p.Ala513Val) n.1989C>T | |
9 | g.104831736G>C | CA374324817 | ABCA1 | c.1601C>G (p.Ala534Gly) c.1421C>G (p.Ala474Gly) c.1676C>G (p.Ala559Gly) c.1238C>G (p.Ala413Gly) c.1538C>G (p.Ala513Gly) n.1989C>G | |
9 | g.104831736G>T | CA374324816 | ABCA1 | c.1601C>A (p.Ala534Asp) c.1421C>A (p.Ala474Asp) c.1676C>A (p.Ala559Asp) c.1238C>A (p.Ala413Asp) c.1538C>A (p.Ala513Asp) n.1989C>A | |
9 | g.104831737C>A | CA374324819 | ABCA1 | c.1600G>T (p.Ala534Ser) c.1420G>T (p.Ala474Ser) c.1675G>T (p.Ala559Ser) c.1237G>T (p.Ala413Ser) c.1537G>T (p.Ala513Ser) n.1988G>T | |
9 | g.104831737C>G | CA374324820 | ABCA1 | c.1600G>C (p.Ala534Pro) c.1420G>C (p.Ala474Pro) c.1675G>C (p.Ala559Pro) c.1237G>C (p.Ala413Pro) c.1537G>C (p.Ala513Pro) n.1988G>C | |
9 | g.104831737C>T | CA374324821 | ABCA1 | c.1600G>A (p.Ala534Thr) c.1420G>A (p.Ala474Thr) c.1675G>A (p.Ala559Thr) c.1237G>A (p.Ala413Thr) c.1537G>A (p.Ala513Thr) n.1988G>A | dbSNP gnomAD v4 |
9 | g.104831738C>A | CA374324822 | ABCA1 | c.1599G>T (p.Trp533Cys) c.1419G>T (p.Trp473Cys) c.1674G>T (p.Trp558Cys) c.1236G>T (p.Trp412Cys) c.1536G>T (p.Trp512Cys) n.1987G>T | |
9 | g.104831738C>G | CA374324823 | ABCA1 | c.1599G>C (p.Trp533Cys) c.1419G>C (p.Trp473Cys) c.1674G>C (p.Trp558Cys) c.1236G>C (p.Trp412Cys) c.1536G>C (p.Trp512Cys) n.1987G>C | |
9 | g.104831738C>T | CA374324824 | ABCA1 | c.1599G>A (p.Trp533Ter) c.1419G>A (p.Trp473Ter) c.1674G>A (p.Trp558Ter) c.1236G>A (p.Trp412Ter) c.1536G>A (p.Trp512Ter) n.1987G>A | |
9 | g.104831739C>A | CA374324827 | ABCA1 | c.1598G>T (p.Trp533Leu) c.1418G>T (p.Trp473Leu) c.1673G>T (p.Trp558Leu) c.1235G>T (p.Trp412Leu) c.1535G>T (p.Trp512Leu) n.1986G>T | |
9 | g.104831739C>G | CA374324829 | ABCA1 | c.1598G>C (p.Trp533Ser) c.1418G>C (p.Trp473Ser) c.1673G>C (p.Trp558Ser) c.1235G>C (p.Trp412Ser) c.1535G>C (p.Trp512Ser) n.1986G>C | |
9 | g.104831739C>T | CA374324831 | ABCA1 | c.1598G>A (p.Trp533Ter) c.1418G>A (p.Trp473Ter) c.1673G>A (p.Trp558Ter) c.1235G>A (p.Trp412Ter) c.1535G>A (p.Trp512Ter) n.1986G>A | |
9 | g.104831739_104831753delinsCAGAACTTCCTCTCA | CA1869925777 | ABCA1 | c.1584_1598delinsTGAGAGGAAGTTCTG (p.Asp528=) c.1404_1418delinsTGAGAGGAAGTTCTG (p.Asp468=) c.1659_1673delinsTGAGAGGAAGTTCTG (p.Asp553=) c.1221_1235delinsTGAGAGGAAGTTCTG (p.Asp407=) c.1521_1535delinsTGAGAGGAAGTTCTG (p.Asp507=) n.1972_1986delinsTGAGAGGAAGTTCTG | |
9 | g.104831740A>C | CA374324834 | ABCA1 | c.1597T>G (p.Trp533Gly) c.1417T>G (p.Trp473Gly) c.1672T>G (p.Trp558Gly) c.1234T>G (p.Trp412Gly) c.1534T>G (p.Trp512Gly) n.1985T>G | |
9 | g.104831740A>G | CA374324836 | ABCA1 | c.1597T>C (p.Trp533Arg) c.1417T>C (p.Trp473Arg) c.1672T>C (p.Trp558Arg) c.1234T>C (p.Trp412Arg) c.1534T>C (p.Trp512Arg) n.1985T>C | |
9 | g.104831740A>T | CA374324838 | ABCA1 | c.1597T>A (p.Trp533Arg) c.1417T>A (p.Trp473Arg) c.1672T>A (p.Trp558Arg) c.1234T>A (p.Trp412Arg) c.1534T>A (p.Trp512Arg) n.1985T>A | |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT | CA197397044 | ABCA1 | c.1584_1597delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp528GlufsTer23) c.1404_1417delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp468GlufsTer23) c.1659_1672delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp553GlufsTer23) c.1221_1234delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp407GlufsTer23) c.1521_1534delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp507GlufsTer23) n.1972_1985delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC | dbSNP |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG | CA212917 | ABCA1 | c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp529GlyfsTer15) c.1404_1417delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp469GlyfsTer15) c.1659_1672delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp554GlyfsTer15) c.1221_1234delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp408GlyfsTer15) c.1521_1534delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp508GlyfsTer15) n.1972_1985delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC | ClinVar dbSNP |
9 | g.104831741G>A | CA466512915 | ABCA1 | c.1596C>T (p.Phe532=) c.1416C>T (p.Phe472=) c.1671C>T (p.Phe557=) c.1233C>T (p.Phe411=) c.1533C>T (p.Phe511=) n.1984C>T | |
9 | g.104831741G>C | CA374324843 | ABCA1 | c.1596C>G (p.Phe532Leu) c.1416C>G (p.Phe472Leu) c.1671C>G (p.Phe557Leu) c.1233C>G (p.Phe411Leu) c.1533C>G (p.Phe511Leu) n.1984C>G | |
9 | g.104831741G>T | CA374324841 | ABCA1 | c.1596C>A (p.Phe532Leu) c.1416C>A (p.Phe472Leu) c.1671C>A (p.Phe557Leu) c.1233C>A (p.Phe411Leu) c.1533C>A (p.Phe511Leu) n.1984C>A | COSMIC |
9 | g.104831742A>C | CA374324846 | ABCA1 | c.1595T>G (p.Phe532Cys) c.1415T>G (p.Phe472Cys) c.1670T>G (p.Phe557Cys) c.1232T>G (p.Phe411Cys) c.1532T>G (p.Phe511Cys) n.1983T>G | |
9 | g.104831742A>G | CA374324847 | ABCA1 | c.1595T>C (p.Phe532Ser) c.1415T>C (p.Phe472Ser) c.1670T>C (p.Phe557Ser) c.1232T>C (p.Phe411Ser) c.1532T>C (p.Phe511Ser) n.1983T>C | |
9 | g.104831742A>T | CA374324849 | ABCA1 | c.1595T>A (p.Phe532Tyr) c.1415T>A (p.Phe472Tyr) c.1670T>A (p.Phe557Tyr) c.1232T>A (p.Phe411Tyr) c.1532T>A (p.Phe511Tyr) n.1983T>A | gnomAD v4 |
9 | g.104831743A>C | CA374324852 | ABCA1 | c.1594T>G (p.Phe532Val) c.1414T>G (p.Phe472Val) c.1669T>G (p.Phe557Val) c.1231T>G (p.Phe411Val) c.1531T>G (p.Phe511Val) n.1982T>G | |
9 | g.104831743A>G | CA374324853 | ABCA1 | c.1594T>C (p.Phe532Leu) c.1414T>C (p.Phe472Leu) c.1669T>C (p.Phe557Leu) c.1231T>C (p.Phe411Leu) c.1531T>C (p.Phe511Leu) n.1982T>C | |
9 | g.104831743A>T | CA374324855 | ABCA1 | c.1594T>A (p.Phe532Ile) c.1414T>A (p.Phe472Ile) c.1669T>A (p.Phe557Ile) c.1231T>A (p.Phe411Ile) c.1531T>A (p.Phe511Ile) n.1982T>A | |
9 | g.104831744C>A | CA374324858 | ABCA1 | c.1593G>T (p.Lys531Asn) c.1413G>T (p.Lys471Asn) c.1668G>T (p.Lys556Asn) c.1230G>T (p.Lys410Asn) c.1530G>T (p.Lys510Asn) n.1981G>T | |
9 | g.104831744C= | CA1869925789 | ABCA1 | c.1593G= (p.Lys531=) c.1413G= (p.Lys471=) c.1668G= (p.Lys556=) c.1230G= (p.Lys410=) c.1530G= (p.Lys510=) n.1981G= | |
9 | g.104831744C>G | CA374324859 | ABCA1 | c.1593G>C (p.Lys531Asn) c.1413G>C (p.Lys471Asn) c.1668G>C (p.Lys556Asn) c.1230G>C (p.Lys410Asn) c.1530G>C (p.Lys510Asn) n.1981G>C | |
9 | g.104831744C>T | CA466512932 | ABCA1 | c.1593G>A (p.Lys531=) c.1413G>A (p.Lys471=) c.1668G>A (p.Lys556=) c.1230G>A (p.Lys410=) c.1530G>A (p.Lys510=) n.1981G>A | dbSNP |
9 | g.104831745T>A | CA374324861 | ABCA1 | c.1592A>T (p.Lys531Met) c.1412A>T (p.Lys471Met) c.1667A>T (p.Lys556Met) c.1229A>T (p.Lys410Met) c.1529A>T (p.Lys510Met) n.1980A>T | |
9 | g.104831745T>C | CA374324863 | ABCA1 | c.1592A>G (p.Lys531Arg) c.1412A>G (p.Lys471Arg) c.1667A>G (p.Lys556Arg) c.1229A>G (p.Lys410Arg) c.1529A>G (p.Lys510Arg) n.1980A>G | gnomAD v4 |
9 | g.104831745T>G | CA374324865 | ABCA1 | c.1592A>C (p.Lys531Thr) c.1412A>C (p.Lys471Thr) c.1667A>C (p.Lys556Thr) c.1229A>C (p.Lys410Thr) c.1529A>C (p.Lys510Thr) n.1980A>C | |
9 | g.104831746T>A | CA374324867 | ABCA1 | c.1591A>T (p.Lys531Ter) c.1411A>T (p.Lys471Ter) c.1666A>T (p.Lys556Ter) c.1228A>T (p.Lys410Ter) c.1528A>T (p.Lys510Ter) n.1979A>T | |
9 | g.104831746T>C | CA374324868 | ABCA1 | c.1591A>G (p.Lys531Glu) c.1411A>G (p.Lys471Glu) c.1666A>G (p.Lys556Glu) c.1228A>G (p.Lys410Glu) c.1528A>G (p.Lys510Glu) n.1979A>G | |
9 | g.104831746T>G | CA374324869 | ABCA1 | c.1591A>C (p.Lys531Gln) c.1411A>C (p.Lys471Gln) c.1666A>C (p.Lys556Gln) c.1228A>C (p.Lys410Gln) c.1528A>C (p.Lys510Gln) n.1979A>C | |
9 | g.104831747C>A | CA374324871 | ABCA1 | c.1590G>T (p.Arg530Ser) c.1410G>T (p.Arg470Ser) c.1665G>T (p.Arg555Ser) c.1227G>T (p.Arg409Ser) c.1527G>T (p.Arg509Ser) n.1978G>T | ClinVar |
9 | g.104831747C>G | CA374324873 | ABCA1 | c.1590G>C (p.Arg530Ser) c.1410G>C (p.Arg470Ser) c.1665G>C (p.Arg555Ser) c.1227G>C (p.Arg409Ser) c.1527G>C (p.Arg509Ser) n.1978G>C | gnomAD v4 |
9 | g.104831747C>T | CA466512947 | ABCA1 | c.1590G>A (p.Arg530=) c.1410G>A (p.Arg470=) c.1665G>A (p.Arg555=) c.1227G>A (p.Arg409=) c.1527G>A (p.Arg509=) n.1978G>A |