| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11111514_11116998del | CA10585283 | LDLR | c.1319_2103del c.1061_1705+786del c.941_1725del c.1061_1845del c.1315_2099del c.557_1341del c.938_1722del c.680_1464del n.1211_1855+786del n.1178_1962del n.1178_1822+786del | |
| 19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
| 19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11114751_11118984del | CA2573050605 | LDLR | c.1844+989_2104-1108del c.1586+989_1706-1108del c.1466+989_1726-1108del c.1586+989_1846-1108del c.1840+989_2100-1108del c.1082+989_1342-1108del c.1463+989_1723-1108del c.1205+989_1465-1108del c.307+989_427-1108del n.1736+989_1856-1108del n.1703+989_1963-1108del n.1703+989_1823-1108del | |
| 19 | g.11114921_11119196del | CA2573050606 | LDLR | c.1844+1159_2104-896del c.1586+1159_1706-896del c.1466+1159_1726-896del c.1586+1159_1846-896del c.1840+1159_2100-896del c.1082+1159_1342-896del c.1463+1159_1723-896del c.1205+1159_1465-896del c.307+1159_427-896del n.1736+1159_1856-896del n.1703+1159_1963-896del n.1703+1159_1823-896del | |
| 19 | g.11116093_11116999del | CA658824571 | LDLR | c.1845-1_2103+1del c.1587-1_1705+787del c.1467-1_1725+1del c.1587-1_1845+1del c.1841-1_2099+1del c.1083-1_1341+1del c.1464-1_1722+1del c.1206-1_1464+1del c.308-1_426+787del n.1737-1_1855+787del n.1704-1_1962+1del n.1704-1_1822+787del | ClinVar |
| 19 | g.11116093_11116999dup | CA658824572 | LDLR | c.1845-1_2103+1dup c.1587-1_1705+787dup c.1467-1_1725+1dup c.1587-1_1845+1dup c.1841-1_2099+1dup c.1083-1_1341+1dup c.1464-1_1722+1dup c.1206-1_1464+1dup c.308-1_426+787dup n.1737-1_1855+787dup n.1704-1_1962+1dup n.1704-1_1822+787dup | ClinVar |
| 19 | g.11116179_11116183delinsGAAAA | CA2322773298 | LDLR | c.1930_1934delinsGAAAA (p.Glu644=) c.1672_1676delinsGAAAA (p.Glu558=) c.1552_1556delinsGAAAA (p.Glu518=) c.1926_1930delinsGAAAA c.1168_1172delinsGAAAA (p.Glu390=) c.1549_1553delinsGAAAA (p.Glu517=) c.1291_1295delinsGAAAA (p.Glu431=) c.393_397delinsGAAAA n.1822_1826delinsGAAAA n.1789_1793delinsGAAAA | |
| 19 | g.11116180A= | CA2322773299 | LDLR | c.1931A= (p.Glu644=) c.1673A= (p.Glu558=) c.1553A= (p.Glu518=) c.1927A= c.1169A= (p.Glu390=) c.1550A= (p.Glu517=) c.1292A= (p.Glu431=) c.394A= n.1823A= n.1790A= | |
| 19 | g.11116180A>C | CA404089307 | LDLR | c.1931A>C (p.Glu644Ala) c.1673A>C (p.Glu558Ala) c.1553A>C (p.Glu518Ala) c.1927A>C c.1169A>C (p.Glu390Ala) c.1550A>C (p.Glu517Ala) c.1292A>C (p.Glu431Ala) c.394A>C n.1823A>C n.1790A>C | |
| 19 | g.11116180A>G | CA404089311 | LDLR | c.1931A>G (p.Glu644Gly) c.1673A>G (p.Glu558Gly) c.1553A>G (p.Glu518Gly) c.1927A>G c.1169A>G (p.Glu390Gly) c.1550A>G (p.Glu517Gly) c.1292A>G (p.Glu431Gly) c.394A>G n.1823A>G n.1790A>G | dbSNP gnomAD v4 |
| 19 | g.11116180A>T | CA404089313 | LDLR | c.1931A>T (p.Glu644Val) c.1673A>T (p.Glu558Val) c.1553A>T (p.Glu518Val) c.1927A>T c.1169A>T (p.Glu390Val) c.1550A>T (p.Glu517Val) c.1292A>T (p.Glu431Val) c.394A>T n.1823A>T n.1790A>T | |
| 19 | g.11116180_11116183del | CA645373257 | LDLR | c.1931_1934del (p.Glu644AlafsTer10) c.1673_1676del (p.Glu558AlafsTer10) c.1553_1556del (p.Glu518AlafsTer10) c.1927_1930del c.1169_1172del (p.Glu390AlafsTer10) c.1550_1553del (p.Glu517AlafsTer10) c.1292_1295del (p.Glu431AlafsTer10) c.394_397del n.1823_1826del n.1790_1793del | ClinVar dbSNP |
| 19 | g.11116183del | CA2582474895 | LDLR | c.1934del (p.Asn645ThrfsTer10) c.1676del (p.Asn559ThrfsTer10) c.1556del (p.Asn519ThrfsTer10) c.1930del c.1172del (p.Asn391ThrfsTer10) c.1553del (p.Asn518ThrfsTer10) c.1295del (p.Asn432ThrfsTer10) c.397del n.1826del n.1793del | gnomAD v4 |
| 19 | g.11116181A>C | CA404089317 | LDLR | c.1932A>C (p.Glu644Asp) c.1674A>C (p.Glu558Asp) c.1554A>C (p.Glu518Asp) c.1928A>C c.1170A>C (p.Glu390Asp) c.1551A>C (p.Glu517Asp) c.1293A>C (p.Glu431Asp) c.395A>C n.1824A>C n.1791A>C | |
| 19 | g.11116181A>G | CA505485939 | LDLR | c.1932A>G (p.Glu644=) c.1674A>G (p.Glu558=) c.1554A>G (p.Glu518=) c.1928A>G c.1170A>G (p.Glu390=) c.1551A>G (p.Glu517=) c.1293A>G (p.Glu431=) c.395A>G n.1824A>G n.1791A>G | |
| 19 | g.11116181A>T | CA404089326 | LDLR | c.1932A>T (p.Glu644Asp) c.1674A>T (p.Glu558Asp) c.1554A>T (p.Glu518Asp) c.1928A>T c.1170A>T (p.Glu390Asp) c.1551A>T (p.Glu517Asp) c.1293A>T (p.Glu431Asp) c.395A>T n.1824A>T n.1791A>T | |
| 19 | g.11116182_11116185del | CA2582474896 | LDLR | c.1933_1936del (p.Asn645PhefsTer9) c.1675_1678del (p.Asn559PhefsTer9) c.1555_1558del (p.Asn519PhefsTer9) c.1929_1932del c.1171_1174del (p.Asn391PhefsTer9) c.1552_1555del (p.Asn518PhefsTer9) c.1294_1297del (p.Asn432PhefsTer9) c.396_399del n.1825_1828del n.1792_1795del | gnomAD v4 |
| 19 | g.11116182A>C | CA404089329 | LDLR | c.1933A>C (p.Asn645His) c.1675A>C (p.Asn559His) c.1555A>C (p.Asn519His) c.1929A>C c.1171A>C (p.Asn391His) c.1552A>C (p.Asn518His) c.1294A>C (p.Asn432His) c.396A>C n.1825A>C n.1792A>C | |
| 19 | g.11116182A>G | CA404089330 | LDLR | c.1933A>G (p.Asn645Asp) c.1675A>G (p.Asn559Asp) c.1555A>G (p.Asn519Asp) c.1929A>G c.1171A>G (p.Asn391Asp) c.1552A>G (p.Asn518Asp) c.1294A>G (p.Asn432Asp) c.396A>G n.1825A>G n.1792A>G | |
| 19 | g.11116182A>T | CA404089331 | LDLR | c.1933A>T (p.Asn645Tyr) c.1675A>T (p.Asn559Tyr) c.1555A>T (p.Asn519Tyr) c.1929A>T c.1171A>T (p.Asn391Tyr) c.1552A>T (p.Asn518Tyr) c.1294A>T (p.Asn432Tyr) c.396A>T n.1825A>T n.1792A>T | |
| 19 | g.11116183A>C | CA404089335 | LDLR | c.1934A>C (p.Asn645Thr) c.1676A>C (p.Asn559Thr) c.1556A>C (p.Asn519Thr) c.1930A>C c.1172A>C (p.Asn391Thr) c.1553A>C (p.Asn518Thr) c.1295A>C (p.Asn432Thr) c.397A>C n.1826A>C n.1793A>C | |
| 19 | g.11116183A>G | CA404089343 | LDLR | c.1934A>G (p.Asn645Ser) c.1676A>G (p.Asn559Ser) c.1556A>G (p.Asn519Ser) c.1930A>G c.1172A>G (p.Asn391Ser) c.1553A>G (p.Asn518Ser) c.1295A>G (p.Asn432Ser) c.397A>G n.1826A>G n.1793A>G | |
| 19 | g.11116183A>T | CA404089344 | LDLR | c.1934A>T (p.Asn645Ile) c.1676A>T (p.Asn559Ile) c.1556A>T (p.Asn519Ile) c.1930A>T c.1172A>T (p.Asn391Ile) c.1553A>T (p.Asn518Ile) c.1295A>T (p.Asn432Ile) c.397A>T n.1826A>T n.1793A>T | |
| 19 | g.11116184C>A | CA404089345 | LDLR | c.1935C>A (p.Asn645Lys) c.1677C>A (p.Asn559Lys) c.1557C>A (p.Asn519Lys) c.1931C>A c.1173C>A (p.Asn391Lys) c.1554C>A (p.Asn518Lys) c.1296C>A (p.Asn432Lys) c.398C>A n.1827C>A n.1794C>A | |
| 19 | g.11116184C>G | CA404089346 | LDLR | c.1935C>G (p.Asn645Lys) c.1677C>G (p.Asn559Lys) c.1557C>G (p.Asn519Lys) c.1931C>G c.1173C>G (p.Asn391Lys) c.1554C>G (p.Asn518Lys) c.1296C>G (p.Asn432Lys) c.398C>G n.1827C>G n.1794C>G | |
| 19 | g.11116184C>T | CA505485943 | LDLR | c.1935C>T (p.Asn645=) c.1677C>T (p.Asn559=) c.1557C>T (p.Asn519=) c.1931C>T c.1173C>T (p.Asn391=) c.1554C>T (p.Asn518=) c.1296C>T (p.Asn432=) c.398C>T n.1827C>T n.1794C>T | |
| 19 | g.11116185A= | CA2322773300 | LDLR | c.1936A= (p.Ile646=) c.1678A= (p.Ile560=) c.1558A= (p.Ile520=) c.1932A= c.1174A= (p.Ile392=) c.1555A= (p.Ile519=) c.1297A= (p.Ile433=) c.399A= n.1828A= n.1795A= | |
| 19 | g.11116185A>C | CA404089349 | LDLR | c.1936A>C (p.Ile646Leu) c.1678A>C (p.Ile560Leu) c.1558A>C (p.Ile520Leu) c.1932A>C c.1174A>C (p.Ile392Leu) c.1555A>C (p.Ile519Leu) c.1297A>C (p.Ile433Leu) c.399A>C n.1828A>C n.1795A>C | |
| 19 | g.11116185A>G | CA404089354 | LDLR | c.1936A>G (p.Ile646Val) c.1678A>G (p.Ile560Val) c.1558A>G (p.Ile520Val) c.1932A>G c.1174A>G (p.Ile392Val) c.1555A>G (p.Ile519Val) c.1297A>G (p.Ile433Val) c.399A>G n.1828A>G n.1795A>G | |
| 19 | g.11116185A>T | CA404089351 | LDLR | c.1936A>T (p.Ile646Phe) c.1678A>T (p.Ile560Phe) c.1558A>T (p.Ile520Phe) c.1932A>T c.1174A>T (p.Ile392Phe) c.1555A>T (p.Ile519Phe) c.1297A>T (p.Ile433Phe) c.399A>T n.1828A>T n.1795A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116186T>A | CA404089359 | LDLR | c.1937T>A (p.Ile646Asn) c.1679T>A (p.Ile560Asn) c.1559T>A (p.Ile520Asn) c.1933T>A c.1175T>A (p.Ile392Asn) c.1556T>A (p.Ile519Asn) c.1298T>A (p.Ile433Asn) c.400T>A n.1829T>A n.1796T>A | |
| 19 | g.11116186T>C | CA404089362 | LDLR | c.1937T>C (p.Ile646Thr) c.1679T>C (p.Ile560Thr) c.1559T>C (p.Ile520Thr) c.1933T>C c.1175T>C (p.Ile392Thr) c.1556T>C (p.Ile519Thr) c.1298T>C (p.Ile433Thr) c.400T>C n.1829T>C n.1796T>C | |
| 19 | g.11116186T>G | CA404089365 | LDLR | c.1937T>G (p.Ile646Ser) c.1679T>G (p.Ile560Ser) c.1559T>G (p.Ile520Ser) c.1933T>G c.1175T>G (p.Ile392Ser) c.1556T>G (p.Ile519Ser) c.1298T>G (p.Ile433Ser) c.400T>G n.1829T>G n.1796T>G | |
| 19 | g.11116186_11116187insGTTT | CA2582474897 | LDLR | c.1937_1938insGTTT (p.Ile646MetfsTer21) c.1679_1680insGTTT (p.Ile560MetfsTer?) c.1559_1560insGTTT (p.Ile520MetfsTer21) c.1679_1680insGTTT (p.Ile560MetfsTer21) c.1933_1934insGTTT c.1175_1176insGTTT (p.Ile392MetfsTer21) c.1556_1557insGTTT (p.Ile519MetfsTer21) c.1298_1299insGTTT (p.Ile433MetfsTer21) c.400_401insGTTT n.1829_1830insGTTT n.1796_1797insGTTT | gnomAD v4 |
| 19 | g.11116187T>A | CA505485946 | LDLR | c.1938T>A (p.Ile646=) c.1680T>A (p.Ile560=) c.1560T>A (p.Ile520=) c.1934T>A c.1176T>A (p.Ile392=) c.1557T>A (p.Ile519=) c.1299T>A (p.Ile433=) c.401T>A n.1830T>A n.1797T>A | |
| 19 | g.11116187T>C | CA505485947 | LDLR | c.1938T>C (p.Ile646=) c.1680T>C (p.Ile560=) c.1560T>C (p.Ile520=) c.1934T>C c.1176T>C (p.Ile392=) c.1557T>C (p.Ile519=) c.1299T>C (p.Ile433=) c.401T>C n.1830T>C n.1797T>C | |
| 19 | g.11116187T>G | CA404089369 | LDLR | c.1938T>G (p.Ile646Met) c.1680T>G (p.Ile560Met) c.1560T>G (p.Ile520Met) c.1934T>G c.1176T>G (p.Ile392Met) c.1557T>G (p.Ile519Met) c.1299T>G (p.Ile433Met) c.401T>G n.1830T>G n.1797T>G | |
| 19 | g.11116188C>A | CA404089375 | LDLR | c.1939C>A (p.Gln647Lys) c.1681C>A (p.Gln561Lys) c.1561C>A (p.Gln521Lys) c.1935C>A c.1177C>A (p.Gln393Lys) c.1558C>A (p.Gln520Lys) c.1300C>A (p.Gln434Lys) c.402C>A n.1831C>A n.1798C>A | |
| 19 | g.11116188C= | CA2322773301 | LDLR | c.1939C= (p.Gln647=) c.1681C= (p.Gln561=) c.1561C= (p.Gln521=) c.1935C= c.1177C= (p.Gln393=) c.1558C= (p.Gln520=) c.1300C= (p.Gln434=) c.402C= n.1831C= n.1798C= | |
| 19 | g.11116188C>G | CA404089379 | LDLR | c.1939C>G (p.Gln647Glu) c.1681C>G (p.Gln561Glu) c.1561C>G (p.Gln521Glu) c.1935C>G c.1177C>G (p.Gln393Glu) c.1558C>G (p.Gln520Glu) c.1300C>G (p.Gln434Glu) c.402C>G n.1831C>G n.1798C>G | |
| 19 | g.11116188C>T | CA10585556 | LDLR | c.1939C>T (p.Gln647Ter) c.1681C>T (p.Gln561Ter) c.1561C>T (p.Gln521Ter) c.1935C>T c.1177C>T (p.Gln393Ter) c.1558C>T (p.Gln520Ter) c.1300C>T (p.Gln434Ter) c.402C>T n.1831C>T n.1798C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11116188_11116190dup | CA2497030072 | LDLR | c.1939_1941dup (p.Gln647_Trp648insGln) c.1681_1683dup (p.Gln561_Trp562insGln) c.1561_1563dup (p.Gln521_Trp522insGln) c.1935_1937dup c.1177_1179dup (p.Gln393_Trp394insGln) c.1558_1560dup (p.Gln520_Trp521insGln) c.1300_1302dup (p.Gln434_Trp435insGln) c.402_404dup n.1831_1833dup n.1798_1800dup | |
| 19 | g.11116189A= | CA2322773302 | LDLR | c.1940A= (p.Gln647=) c.1682A= (p.Gln561=) c.1562A= (p.Gln521=) c.1936A= c.1178A= (p.Gln393=) c.1559A= (p.Gln520=) c.1301A= (p.Gln434=) c.403A= n.1832A= n.1799A= | |
| 19 | g.11116189A>C | CA404089383 | LDLR | c.1940A>C (p.Gln647Pro) c.1682A>C (p.Gln561Pro) c.1562A>C (p.Gln521Pro) c.1936A>C c.1178A>C (p.Gln393Pro) c.1559A>C (p.Gln520Pro) c.1301A>C (p.Gln434Pro) c.403A>C n.1832A>C n.1799A>C | |
| 19 | g.11116189A>G | CA404089385 | LDLR | c.1940A>G (p.Gln647Arg) c.1682A>G (p.Gln561Arg) c.1562A>G (p.Gln521Arg) c.1936A>G c.1178A>G (p.Gln393Arg) c.1559A>G (p.Gln520Arg) c.1301A>G (p.Gln434Arg) c.403A>G n.1832A>G n.1799A>G | dbSNP |
| 19 | g.11116189A>T | CA404089388 | LDLR | c.1940A>T (p.Gln647Leu) c.1682A>T (p.Gln561Leu) c.1562A>T (p.Gln521Leu) c.1936A>T c.1178A>T (p.Gln393Leu) c.1559A>T (p.Gln520Leu) c.1301A>T (p.Gln434Leu) c.403A>T n.1832A>T n.1799A>T | |
| 19 | g.11116189_11116190delinsAG | CA2322773303 | LDLR | c.1940_1941delinsAG (p.Gln647=) c.1682_1683delinsAG (p.Gln561=) c.1562_1563delinsAG (p.Gln521=) c.1936_1937delinsAG c.1178_1179delinsAG (p.Gln393=) c.1559_1560delinsAG (p.Gln520=) c.1301_1302delinsAG (p.Gln434=) c.403_404delinsAG n.1832_1833delinsAG n.1799_1800delinsAG | |
| 19 | g.11116190del | CA10585557 | LDLR | c.1941del (p.Gln647HisfsTer8) c.1683del (p.Gln561HisfsTer8) c.1563del (p.Gln521HisfsTer8) c.1937del c.1179del (p.Gln393HisfsTer8) c.1560del (p.Gln520HisfsTer8) c.1302del (p.Gln434HisfsTer8) c.404del n.1833del n.1800del | ClinVar dbSNP |
| 19 | g.11116190G>A | CA505485949 | LDLR | c.1941G>A (p.Gln647=) c.1683G>A (p.Gln561=) c.1563G>A (p.Gln521=) c.1937G>A c.1179G>A (p.Gln393=) c.1560G>A (p.Gln520=) c.1302G>A (p.Gln434=) c.404G>A n.1833G>A n.1800G>A | ClinVar dbSNP gnomAD v4 |