| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104831048dup | CA5168907 | ABCA1 | c.1775dup (p.Phe593LeufsTer?) c.1595dup (p.Phe533LeufsTer?) c.1850dup (p.Phe618LeufsTer?) c.1412dup (p.Phe472LeufsTer?) c.1712dup (p.Phe572LeufsTer?) n.2163dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831048del | CA374323113 | ABCA1 | c.1775del (p.Gly592AlafsTer17) c.1595del (p.Gly532AlafsTer17) c.1850del (p.Gly617AlafsTer17) c.1412del (p.Gly471AlafsTer17) c.1712del (p.Gly571AlafsTer17) n.2163del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.104831048C>A | CA5168908 | ABCA1 | c.1769G>T (p.Trp590Leu) c.1589G>T (p.Trp530Leu) c.1844G>T (p.Trp615Leu) c.1406G>T (p.Trp469Leu) c.1706G>T (p.Trp569Leu) n.2157G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831048C= | CA1869924110 | ABCA1 | c.1769G= (p.Trp590=) c.1589G= (p.Trp530=) c.1844G= (p.Trp615=) c.1406G= (p.Trp469=) c.1706G= (p.Trp569=) n.2157G= | |
| 9 | g.104831048C>G | CA120483 | ABCA1 | c.1769G>C (p.Trp590Ser) c.1589G>C (p.Trp530Ser) c.1844G>C (p.Trp615Ser) c.1406G>C (p.Trp469Ser) c.1706G>C (p.Trp569Ser) n.2157G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831048C>T | CA374323151 | ABCA1 | c.1769G>A (p.Trp590Ter) c.1589G>A (p.Trp530Ter) c.1844G>A (p.Trp615Ter) c.1406G>A (p.Trp469Ter) c.1706G>A (p.Trp569Ter) n.2157G>A | gnomAD v4 COSMIC |
| 9 | g.104831049A>C | CA374323154 | ABCA1 | c.1768T>G (p.Trp590Gly) c.1588T>G (p.Trp530Gly) c.1843T>G (p.Trp615Gly) c.1405T>G (p.Trp469Gly) c.1705T>G (p.Trp569Gly) n.2156T>G | |
| 9 | g.104831049A>G | CA374323156 | ABCA1 | c.1768T>C (p.Trp590Arg) c.1588T>C (p.Trp530Arg) c.1843T>C (p.Trp615Arg) c.1405T>C (p.Trp469Arg) c.1705T>C (p.Trp569Arg) n.2156T>C | |
| 9 | g.104831049A>T | CA374323158 | ABCA1 | c.1768T>A (p.Trp590Arg) c.1588T>A (p.Trp530Arg) c.1843T>A (p.Trp615Arg) c.1405T>A (p.Trp469Arg) c.1705T>A (p.Trp569Arg) n.2156T>A | |
| 9 | g.104831049dup | CA2691053194 | ABCA1 | c.1768dup (p.Trp590LeufsTer?) c.1588dup (p.Trp530LeufsTer?) c.1843dup (p.Trp615LeufsTer?) c.1405dup (p.Trp469LeufsTer?) c.1705dup (p.Trp569LeufsTer?) n.2156dup | gnomAD v4 |
| 9 | g.104831050G>A | CA466511988 | ABCA1 | c.1767C>T (p.Val589=) c.1587C>T (p.Val529=) c.1842C>T (p.Val614=) c.1404C>T (p.Val468=) c.1704C>T (p.Val568=) n.2155C>T | |
| 9 | g.104831050G>C | CA466511989 | ABCA1 | c.1767C>G (p.Val589=) c.1587C>G (p.Val529=) c.1842C>G (p.Val614=) c.1404C>G (p.Val468=) c.1704C>G (p.Val568=) n.2155C>G | dbSNP |
| 9 | g.104831050G= | CA1869924115 | ABCA1 | c.1767C= (p.Val589=) c.1587C= (p.Val529=) c.1842C= (p.Val614=) c.1404C= (p.Val468=) c.1704C= (p.Val568=) n.2155C= | |
| 9 | g.104831050G>T | CA466511990 | ABCA1 | c.1767C>A (p.Val589=) c.1587C>A (p.Val529=) c.1842C>A (p.Val614=) c.1404C>A (p.Val468=) c.1704C>A (p.Val568=) n.2155C>A | |
| 9 | g.104831051A= | CA1869924117 | ABCA1 | c.1766T= (p.Val589=) c.1586T= (p.Val529=) c.1841T= (p.Val614=) c.1403T= (p.Val468=) c.1703T= (p.Val568=) n.2154T= | |
| 9 | g.104831051A>C | CA374323161 | ABCA1 | c.1766T>G (p.Val589Gly) c.1586T>G (p.Val529Gly) c.1841T>G (p.Val614Gly) c.1403T>G (p.Val468Gly) c.1703T>G (p.Val568Gly) n.2154T>G | gnomAD v4 |
| 9 | g.104831051A>G | CA374323165 | ABCA1 | c.1766T>C (p.Val589Ala) c.1586T>C (p.Val529Ala) c.1841T>C (p.Val614Ala) c.1403T>C (p.Val468Ala) c.1703T>C (p.Val568Ala) n.2154T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831051A>T | CA374323163 | ABCA1 | c.1766T>A (p.Val589Asp) c.1586T>A (p.Val529Asp) c.1841T>A (p.Val614Asp) c.1403T>A (p.Val468Asp) c.1703T>A (p.Val568Asp) n.2154T>A | |
| 9 | g.104831052C>A | CA374323168 | ABCA1 | c.1765G>T (p.Val589Phe) c.1585G>T (p.Val529Phe) c.1840G>T (p.Val614Phe) c.1402G>T (p.Val468Phe) c.1702G>T (p.Val568Phe) n.2153G>T | |
| 9 | g.104831052C= | CA1869924124 | ABCA1 | c.1765G= (p.Val589=) c.1585G= (p.Val529=) c.1840G= (p.Val614=) c.1402G= (p.Val468=) c.1702G= (p.Val568=) n.2153G= | |
| 9 | g.104831052C>G | CA374323171 | ABCA1 | c.1765G>C (p.Val589Leu) c.1585G>C (p.Val529Leu) c.1840G>C (p.Val614Leu) c.1402G>C (p.Val468Leu) c.1702G>C (p.Val568Leu) n.2153G>C | |
| 9 | g.104831052C>T | CA5168909 | ABCA1 | c.1765G>A (p.Val589Ile) c.1585G>A (p.Val529Ile) c.1840G>A (p.Val614Ile) c.1402G>A (p.Val468Ile) c.1702G>A (p.Val568Ile) n.2153G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104831053G>A | CA5168910 | ABCA1 | c.1764C>T (p.Tyr588=) c.1584C>T (p.Tyr528=) c.1839C>T (p.Tyr613=) c.1401C>T (p.Tyr467=) c.1701C>T (p.Tyr567=) n.2152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.104831053G>C | CA374323176 | ABCA1 | c.1764C>G (p.Tyr588Ter) c.1584C>G (p.Tyr528Ter) c.1839C>G (p.Tyr613Ter) c.1401C>G (p.Tyr467Ter) c.1701C>G (p.Tyr567Ter) n.2152C>G | |
| 9 | g.104831053G= | CA1869924130 | ABCA1 | c.1764C= (p.Tyr588=) c.1584C= (p.Tyr528=) c.1839C= (p.Tyr613=) c.1401C= (p.Tyr467=) c.1701C= (p.Tyr567=) n.2152C= | |
| 9 | g.104831053G>T | CA374323174 | ABCA1 | c.1764C>A (p.Tyr588Ter) c.1584C>A (p.Tyr528Ter) c.1839C>A (p.Tyr613Ter) c.1401C>A (p.Tyr467Ter) c.1701C>A (p.Tyr567Ter) n.2152C>A | |
| 9 | g.104831054T>A | CA374323179 | ABCA1 | c.1763A>T (p.Tyr588Phe) c.1583A>T (p.Tyr528Phe) c.1838A>T (p.Tyr613Phe) c.1400A>T (p.Tyr467Phe) c.1700A>T (p.Tyr567Phe) n.2151A>T | |
| 9 | g.104831054T>C | CA374323181 | ABCA1 | c.1763A>G (p.Tyr588Cys) c.1583A>G (p.Tyr528Cys) c.1838A>G (p.Tyr613Cys) c.1400A>G (p.Tyr467Cys) c.1700A>G (p.Tyr567Cys) n.2151A>G | |
| 9 | g.104831054T>G | CA374323183 | ABCA1 | c.1763A>C (p.Tyr588Ser) c.1583A>C (p.Tyr528Ser) c.1838A>C (p.Tyr613Ser) c.1400A>C (p.Tyr467Ser) c.1700A>C (p.Tyr567Ser) n.2151A>C | |
| 9 | g.104831055A>C | CA374323186 | ABCA1 | c.1762T>G (p.Tyr588Asp) c.1582T>G (p.Tyr528Asp) c.1837T>G (p.Tyr613Asp) c.1399T>G (p.Tyr467Asp) c.1699T>G (p.Tyr567Asp) n.2150T>G | |
| 9 | g.104831055A>G | CA374323188 | ABCA1 | c.1762T>C (p.Tyr588His) c.1582T>C (p.Tyr528His) c.1837T>C (p.Tyr613His) c.1399T>C (p.Tyr467His) c.1699T>C (p.Tyr567His) n.2150T>C | |
| 9 | g.104831055A>T | CA374323190 | ABCA1 | c.1762T>A (p.Tyr588Asn) c.1582T>A (p.Tyr528Asn) c.1837T>A (p.Tyr613Asn) c.1399T>A (p.Tyr467Asn) c.1699T>A (p.Tyr567Asn) n.2150T>A | |
| 9 | g.104831056C>A | CA466511991 | ABCA1 | c.1761G>T (p.Arg587=) c.1581G>T (p.Arg527=) c.1836G>T (p.Arg612=) c.1398G>T (p.Arg466=) c.1698G>T (p.Arg566=) n.2149G>T | |
| 9 | g.104831056C= | CA1869924133 | ABCA1 | c.1761G= (p.Arg587=) c.1581G= (p.Arg527=) c.1836G= (p.Arg612=) c.1398G= (p.Arg466=) c.1698G= (p.Arg566=) n.2149G= | |
| 9 | g.104831056C>G | CA466511992 | ABCA1 | c.1761G>C (p.Arg587=) c.1581G>C (p.Arg527=) c.1836G>C (p.Arg612=) c.1398G>C (p.Arg466=) c.1698G>C (p.Arg566=) n.2149G>C | |
| 9 | g.104831056C>T | CA5168911 | ABCA1 | c.1761G>A (p.Arg587=) c.1581G>A (p.Arg527=) c.1836G>A (p.Arg612=) c.1398G>A (p.Arg466=) c.1698G>A (p.Arg566=) n.2149G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831057C>A | CA374323194 | ABCA1 | c.1760G>T (p.Arg587Leu) c.1580G>T (p.Arg527Leu) c.1835G>T (p.Arg612Leu) c.1397G>T (p.Arg466Leu) c.1697G>T (p.Arg566Leu) n.2148G>T | |
| 9 | g.104831057C= | CA1869924140 | ABCA1 | c.1760G= (p.Arg587=) c.1580G= (p.Arg527=) c.1835G= (p.Arg612=) c.1397G= (p.Arg466=) c.1697G= (p.Arg566=) n.2148G= | |
| 9 | g.104831057C>G | CA5168912 | ABCA1 | c.1760G>C (p.Arg587Pro) c.1580G>C (p.Arg527Pro) c.1835G>C (p.Arg612Pro) c.1397G>C (p.Arg466Pro) c.1697G>C (p.Arg566Pro) n.2148G>C | dbSNP ExAC gnomAD v4 |
| 9 | g.104831057C>T | CA374323197 | ABCA1 | c.1760G>A (p.Arg587Gln) c.1580G>A (p.Arg527Gln) c.1835G>A (p.Arg612Gln) c.1397G>A (p.Arg466Gln) c.1697G>A (p.Arg566Gln) n.2148G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104831058G>A | CA5168913 | ABCA1 | c.1759C>T (p.Arg587Trp) c.1579C>T (p.Arg527Trp) c.1834C>T (p.Arg612Trp) c.1396C>T (p.Arg466Trp) c.1696C>T (p.Arg566Trp) n.2147C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831058G>C | CA374323200 | ABCA1 | c.1759C>G (p.Arg587Gly) c.1579C>G (p.Arg527Gly) c.1834C>G (p.Arg612Gly) c.1396C>G (p.Arg466Gly) c.1696C>G (p.Arg566Gly) n.2147C>G | |
| 9 | g.104831058G= | CA1869924146 | ABCA1 | c.1759C= (p.Arg587=) c.1579C= (p.Arg527=) c.1834C= (p.Arg612=) c.1396C= (p.Arg466=) c.1696C= (p.Arg566=) n.2147C= | |
| 9 | g.104831058G>T | CA466511993 | ABCA1 | c.1759C>A (p.Arg587=) c.1579C>A (p.Arg527=) c.1834C>A (p.Arg612=) c.1396C>A (p.Arg466=) c.1696C>A (p.Arg566=) n.2147C>A | |
| 9 | g.104831059C>A | CA374323204 | ABCA1 | c.1758G>T (p.Met586Ile) c.1578G>T (p.Met526Ile) c.1833G>T (p.Met611Ile) c.1395G>T (p.Met465Ile) c.1695G>T (p.Met565Ile) n.2146G>T | |
| 9 | g.104831059C>G | CA374323206 | ABCA1 | c.1758G>C (p.Met586Ile) c.1578G>C (p.Met526Ile) c.1833G>C (p.Met611Ile) c.1395G>C (p.Met465Ile) c.1695G>C (p.Met565Ile) n.2146G>C | |
| 9 | g.104831059C>T | CA374323208 | ABCA1 | c.1758G>A (p.Met586Ile) c.1578G>A (p.Met526Ile) c.1833G>A (p.Met611Ile) c.1395G>A (p.Met465Ile) c.1695G>A (p.Met565Ile) n.2146G>A | gnomAD v4 |
| 9 | g.104831059dup | CA589840756 | ABCA1 | c.1758dup (p.Arg587AlafsTer?) c.1578dup (p.Arg527AlafsTer?) c.1833dup (p.Arg612AlafsTer?) c.1395dup (p.Arg466AlafsTer?) c.1695dup (p.Arg566AlafsTer?) n.2146dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104831060A>C | CA374323211 | ABCA1 | c.1757T>G (p.Met586Arg) c.1577T>G (p.Met526Arg) c.1832T>G (p.Met611Arg) c.1394T>G (p.Met465Arg) c.1694T>G (p.Met565Arg) n.2145T>G | |
| 9 | g.104831060A>G | CA374323213 | ABCA1 | c.1757T>C (p.Met586Thr) c.1577T>C (p.Met526Thr) c.1832T>C (p.Met611Thr) c.1394T>C (p.Met465Thr) c.1694T>C (p.Met565Thr) n.2145T>C |