| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 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.11113657_11113778del | CA2573050601 | LDLR | c.1739_1844+16del c.1481_1586+16del c.1361_1466+16del c.1735_1840+16del c.977_1082+16del c.1358_1463+16del c.1100_1205+16del c.202_307+16del n.1631_1736+16del n.1598_1703+16del | |
| 19 | g.11113656_11116107del | CA2497030066 | LDLR | c.1738_1858del c.1480_1600del c.1360_1480del c.1734_1854del c.976_1096del c.1357_1477del c.1099_1219del c.201_321del n.1630_1750del n.1597_1717del | |
| 19 | g.11113656_11116108del | CA2573050600 | LDLR | c.1738_1859del c.1480_1601del c.1360_1481del c.1734_1855del c.976_1097del c.1357_1478del c.1099_1220del c.201_322del n.1630_1751del n.1597_1718del | |
| 19 | g.11113694_11114102del | CA2739276500 | LDLR | c.1776_1844+340del c.1518_1586+340del c.1398_1466+340del c.1772_1840+340del c.1014_1082+340del c.1395_1463+340del c.1137_1205+340del c.239_307+340del n.1668_1736+340del n.1635_1703+340del | ClinVar |
| 19 | g.11113742_11113751delinsCGTGGTGGAT | CA2322772044 | LDLR | c.1824_1833delinsCGTGGTGGAT (p.Ile608=) c.1566_1575delinsCGTGGTGGAT (p.Ile522=) c.1446_1455delinsCGTGGTGGAT (p.Ile482=) c.1820_1829delinsCGTGGTGGAT c.1062_1071delinsCGTGGTGGAT (p.Ile354=) c.1443_1452delinsCGTGGTGGAT (p.Ile481=) c.1185_1194delinsCGTGGTGGAT (p.Ile395=) c.287_296delinsCGTGGTGGAT n.1716_1725delinsCGTGGTGGAT n.1683_1692delinsCGTGGTGGAT | |
| 19 | g.11113747_11113749del | CA645373235 | LDLR | c.1829_1831del (p.Val610del) c.1571_1573del (p.Val524del) c.1451_1453del (p.Val484del) c.1825_1827del c.1067_1069del (p.Val356del) c.1448_1450del (p.Val483del) c.1190_1192del (p.Val397del) c.292_294del n.1721_1723del n.1688_1690del | ClinVar dbSNP |
| 19 | g.11113743_11113751del | CA10585505 | LDLR | c.1825_1833del (p.Val609_Asp611del) c.1567_1575del (p.Val523_Asp525del) c.1447_1455del (p.Val483_Asp485del) c.1821_1829del c.1063_1071del (p.Val355_Asp357del) c.1444_1452del (p.Val482_Asp484del) c.1186_1194del (p.Val396_Asp398del) c.288_296del n.1717_1725del n.1684_1692del | ClinVar dbSNP |
| 19 | g.11113743_11113753delinsGTGGTGGATCC | CA2322772047 | LDLR | c.1825_1835delinsGTGGTGGATCC (p.Val609=) c.1567_1577delinsGTGGTGGATCC (p.Val523=) c.1447_1457delinsGTGGTGGATCC (p.Val483=) c.1821_1831delinsGTGGTGGATCC c.1063_1073delinsGTGGTGGATCC (p.Val355=) c.1444_1454delinsGTGGTGGATCC (p.Val482=) c.1186_1196delinsGTGGTGGATCC (p.Val396=) c.288_298delinsGTGGTGGATCC n.1717_1727delinsGTGGTGGATCC n.1684_1694delinsGTGGTGGATCC | |
| 19 | g.11113746_11113755del | CA645509281 | LDLR | c.1828_1837del (p.Val610PhefsTer21) c.1570_1579del (p.Val524PhefsTer21) c.1450_1459del (p.Val484PhefsTer21) c.1824_1833del c.1066_1075del (p.Val356PhefsTer21) c.1447_1456del (p.Val483PhefsTer21) c.1189_1198del (p.Val397PhefsTer21) c.291_300del n.1720_1729del n.1687_1696del | ClinVar dbSNP |
| 19 | g.11113747_11113765dup | CA645509282 | LDLR | c.1829_1844+3dup c.1571_1586+3dup c.1451_1466+3dup c.1825_1840+3dup c.1067_1082+3dup c.1448_1463+3dup c.1190_1205+3dup c.292_307+3dup n.1721_1736+3dup n.1688_1703+3dup | ClinVar dbSNP |
| 19 | g.11113747_11113766delinsTGGATCCTGTTCATGGGTGC | CA2322772052 | LDLR | c.1829_1844+4delinsTGGATCCTGTTCATGGGTGC c.1571_1586+4delinsTGGATCCTGTTCATGGGTGC c.1451_1466+4delinsTGGATCCTGTTCATGGGTGC c.1825_1840+4delinsTGGATCCTGTTCATGGGTGC c.1067_1082+4delinsTGGATCCTGTTCATGGGTGC c.1448_1463+4delinsTGGATCCTGTTCATGGGTGC c.1190_1205+4delinsTGGATCCTGTTCATGGGTGC c.292_307+4delinsTGGATCCTGTTCATGGGTGC n.1721_1736+4delinsTGGATCCTGTTCATGGGTGC n.1688_1703+4delinsTGGATCCTGTTCATGGGTGC | |
| 19 | g.11113749_11113767del | CA645373236 | LDLR | c.1831_1844+5del c.1573_1586+5del c.1453_1466+5del c.1827_1840+5del c.1069_1082+5del c.1450_1463+5del c.1192_1205+5del c.294_307+5del n.1723_1736+5del n.1690_1703+5del | ClinVar dbSNP |
| 19 | g.11113749G>A | CA404086603 | LDLR | c.1831G>A (p.Asp611Asn) c.1573G>A (p.Asp525Asn) c.1453G>A (p.Asp485Asn) c.1827G>A c.1069G>A (p.Asp357Asn) c.1450G>A (p.Asp484Asn) c.1192G>A (p.Asp398Asn) c.294G>A n.1723G>A n.1690G>A | |
| 19 | g.11113749G>C | CA404086604 | LDLR | c.1831G>C (p.Asp611His) c.1573G>C (p.Asp525His) c.1453G>C (p.Asp485His) c.1827G>C c.1069G>C (p.Asp357His) c.1450G>C (p.Asp484His) c.1192G>C (p.Asp398His) c.294G>C n.1723G>C n.1690G>C | |
| 19 | g.11113749G>T | CA404086602 | LDLR | c.1831G>T (p.Asp611Tyr) c.1573G>T (p.Asp525Tyr) c.1453G>T (p.Asp485Tyr) c.1827G>T c.1069G>T (p.Asp357Tyr) c.1450G>T (p.Asp484Tyr) c.1192G>T (p.Asp398Tyr) c.294G>T n.1723G>T n.1690G>T | |
| 19 | g.11113750A= | CA2322772053 | LDLR | c.1832A= (p.Asp611=) c.1574A= (p.Asp525=) c.1454A= (p.Asp485=) c.1828A= c.1070A= (p.Asp357=) c.1451A= (p.Asp484=) c.1193A= (p.Asp398=) c.295A= n.1724A= n.1691A= | |
| 19 | g.11113750A>C | CA404086605 | LDLR | c.1832A>C (p.Asp611Ala) c.1574A>C (p.Asp525Ala) c.1454A>C (p.Asp485Ala) c.1828A>C c.1070A>C (p.Asp357Ala) c.1451A>C (p.Asp484Ala) c.1193A>C (p.Asp398Ala) c.295A>C n.1724A>C n.1691A>C | ClinVar dbSNP |
| 19 | g.11113750A>G | CA404086606 | LDLR | c.1832A>G (p.Asp611Gly) c.1574A>G (p.Asp525Gly) c.1454A>G (p.Asp485Gly) c.1828A>G c.1070A>G (p.Asp357Gly) c.1451A>G (p.Asp484Gly) c.1193A>G (p.Asp398Gly) c.295A>G n.1724A>G n.1691A>G | |
| 19 | g.11113750A>T | CA10585507 | LDLR | c.1832A>T (p.Asp611Val) c.1574A>T (p.Asp525Val) c.1454A>T (p.Asp485Val) c.1828A>T c.1070A>T (p.Asp357Val) c.1451A>T (p.Asp484Val) c.1193A>T (p.Asp398Val) c.295A>T n.1724A>T n.1691A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113751T>A | CA034873 | LDLR | c.1833T>A (p.Asp611Glu) c.1575T>A (p.Asp525Glu) c.1455T>A (p.Asp485Glu) c.1829T>A c.1071T>A (p.Asp357Glu) c.1452T>A (p.Asp484Glu) c.1194T>A (p.Asp398Glu) c.296T>A n.1725T>A n.1692T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113751T>C | CA505743329 | LDLR | c.1833T>C (p.Asp611=) c.1575T>C (p.Asp525=) c.1455T>C (p.Asp485=) c.1829T>C c.1071T>C (p.Asp357=) c.1452T>C (p.Asp484=) c.1194T>C (p.Asp398=) c.296T>C n.1725T>C n.1692T>C | ClinVar gnomAD v4 |
| 19 | g.11113751T>G | CA404086607 | LDLR | c.1833T>G (p.Asp611Glu) c.1575T>G (p.Asp525Glu) c.1455T>G (p.Asp485Glu) c.1829T>G c.1071T>G (p.Asp357Glu) c.1452T>G (p.Asp484Glu) c.1194T>G (p.Asp398Glu) c.296T>G n.1725T>G n.1692T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113751T= | CA2322772054 | LDLR | c.1833T= (p.Asp611=) c.1575T= (p.Asp525=) c.1455T= (p.Asp485=) c.1829T= c.1071T= (p.Asp357=) c.1452T= (p.Asp484=) c.1194T= (p.Asp398=) c.296T= n.1725T= n.1692T= | |
| 19 | g.11113752C>A | CA10585508 | LDLR | c.1834C>A (p.Pro612Thr) c.1576C>A (p.Pro526Thr) c.1456C>A (p.Pro486Thr) c.1830C>A c.1072C>A (p.Pro358Thr) c.1453C>A (p.Pro485Thr) c.1195C>A (p.Pro399Thr) c.297C>A n.1726C>A n.1693C>A | ClinVar dbSNP |
| 19 | g.11113752C= | CA2322772055 | LDLR | c.1834C= (p.Pro612=) c.1576C= (p.Pro526=) c.1456C= (p.Pro486=) c.1830C= c.1072C= (p.Pro358=) c.1453C= (p.Pro485=) c.1195C= (p.Pro399=) c.297C= n.1726C= n.1693C= | |
| 19 | g.11113752C>G | CA404086608 | LDLR | c.1834C>G (p.Pro612Ala) c.1576C>G (p.Pro526Ala) c.1456C>G (p.Pro486Ala) c.1830C>G c.1072C>G (p.Pro358Ala) c.1453C>G (p.Pro485Ala) c.1195C>G (p.Pro399Ala) c.297C>G n.1726C>G n.1693C>G | |
| 19 | g.11113752C>T | CA023533 | LDLR | c.1834C>T (p.Pro612Ser) c.1576C>T (p.Pro526Ser) c.1456C>T (p.Pro486Ser) c.1830C>T c.1072C>T (p.Pro358Ser) c.1453C>T (p.Pro485Ser) c.1195C>T (p.Pro399Ser) c.297C>T n.1726C>T n.1693C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11113753C>A | CA404086609 | LDLR | c.1835C>A (p.Pro612His) c.1577C>A (p.Pro526His) c.1457C>A (p.Pro486His) c.1831C>A c.1073C>A (p.Pro358His) c.1454C>A (p.Pro485His) c.1196C>A (p.Pro399His) c.298C>A n.1727C>A n.1694C>A | ClinVar dbSNP |
| 19 | g.11113753C= | CA2322772056 | LDLR | c.1835C= (p.Pro612=) c.1577C= (p.Pro526=) c.1457C= (p.Pro486=) c.1831C= c.1073C= (p.Pro358=) c.1454C= (p.Pro485=) c.1196C= (p.Pro399=) c.298C= n.1727C= n.1694C= | |
| 19 | g.11113753C>G | CA10585509 | LDLR | c.1835C>G (p.Pro612Arg) c.1577C>G (p.Pro526Arg) c.1457C>G (p.Pro486Arg) c.1831C>G c.1073C>G (p.Pro358Arg) c.1454C>G (p.Pro485Arg) c.1196C>G (p.Pro399Arg) c.298C>G n.1727C>G n.1694C>G | ClinVar dbSNP |
| 19 | g.11113753C>T | CA404086610 | LDLR | c.1835C>T (p.Pro612Leu) c.1577C>T (p.Pro526Leu) c.1457C>T (p.Pro486Leu) c.1831C>T c.1073C>T (p.Pro358Leu) c.1454C>T (p.Pro485Leu) c.1196C>T (p.Pro399Leu) c.298C>T n.1727C>T n.1694C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113754T>A | CA505743330 | LDLR | c.1836T>A (p.Pro612=) c.1578T>A (p.Pro526=) c.1458T>A (p.Pro486=) c.1832T>A c.1074T>A (p.Pro358=) c.1455T>A (p.Pro485=) c.1197T>A (p.Pro399=) c.299T>A n.1728T>A n.1695T>A | |
| 19 | g.11113754T>C | CA505743331 | LDLR | c.1836T>C (p.Pro612=) c.1578T>C (p.Pro526=) c.1458T>C (p.Pro486=) c.1832T>C c.1074T>C (p.Pro358=) c.1455T>C (p.Pro485=) c.1197T>C (p.Pro399=) c.299T>C n.1728T>C n.1695T>C | |
| 19 | g.11113754T>G | CA505743332 | LDLR | c.1836T>G (p.Pro612=) c.1578T>G (p.Pro526=) c.1458T>G (p.Pro486=) c.1832T>G c.1074T>G (p.Pro358=) c.1455T>G (p.Pro485=) c.1197T>G (p.Pro399=) c.299T>G n.1728T>G n.1695T>G | |
| 19 | g.11113755G>A | CA034912 | LDLR | c.1837G>A (p.Val613Ile) c.1579G>A (p.Val527Ile) c.1459G>A (p.Val487Ile) c.1833G>A c.1075G>A (p.Val359Ile) c.1456G>A (p.Val486Ile) c.1198G>A (p.Val400Ile) c.300G>A n.1729G>A n.1696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113755G>C | CA404086611 | LDLR | c.1837G>C (p.Val613Leu) c.1579G>C (p.Val527Leu) c.1459G>C (p.Val487Leu) c.1833G>C c.1075G>C (p.Val359Leu) c.1456G>C (p.Val486Leu) c.1198G>C (p.Val400Leu) c.300G>C n.1729G>C n.1696G>C | |
| 19 | g.11113755G= | CA2322772057 | LDLR | c.1837G= (p.Val613=) c.1579G= (p.Val527=) c.1459G= (p.Val487=) c.1833G= c.1075G= (p.Val359=) c.1456G= (p.Val486=) c.1198G= (p.Val400=) c.300G= n.1729G= n.1696G= | |
| 19 | g.11113755G>T | CA404086612 | LDLR | c.1837G>T (p.Val613Phe) c.1579G>T (p.Val527Phe) c.1459G>T (p.Val487Phe) c.1833G>T c.1075G>T (p.Val359Phe) c.1456G>T (p.Val486Phe) c.1198G>T (p.Val400Phe) c.300G>T n.1729G>T n.1696G>T | |
| 19 | g.11113756T>A | CA404086614 | LDLR | c.1838T>A (p.Val613Asp) c.1580T>A (p.Val527Asp) c.1460T>A (p.Val487Asp) c.1834T>A c.1076T>A (p.Val359Asp) c.1457T>A (p.Val486Asp) c.1199T>A (p.Val400Asp) c.301T>A n.1730T>A n.1697T>A | |
| 19 | g.11113756T>C | CA023535 | LDLR | c.1838T>C (p.Val613Ala) c.1580T>C (p.Val527Ala) c.1460T>C (p.Val487Ala) c.1834T>C c.1076T>C (p.Val359Ala) c.1457T>C (p.Val486Ala) c.1199T>C (p.Val400Ala) c.301T>C n.1730T>C n.1697T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113756T>G | CA404086613 | LDLR | c.1838T>G (p.Val613Gly) c.1580T>G (p.Val527Gly) c.1460T>G (p.Val487Gly) c.1834T>G c.1076T>G (p.Val359Gly) c.1457T>G (p.Val486Gly) c.1199T>G (p.Val400Gly) c.301T>G n.1730T>G n.1697T>G | |
| 19 | g.11113756T= | CA2322772058 | LDLR | c.1838T= (p.Val613=) c.1580T= (p.Val527=) c.1460T= (p.Val487=) c.1834T= c.1076T= (p.Val359=) c.1457T= (p.Val486=) c.1199T= (p.Val400=) c.301T= n.1730T= n.1697T= | |
| 19 | g.11113757T>A | CA505743333 | LDLR | c.1839T>A (p.Val613=) c.1581T>A (p.Val527=) c.1461T>A (p.Val487=) c.1835T>A c.1077T>A (p.Val359=) c.1458T>A (p.Val486=) c.1200T>A (p.Val400=) c.302T>A n.1731T>A n.1698T>A | |
| 19 | g.11113757T>C | CA505743334 | LDLR | c.1839T>C (p.Val613=) c.1581T>C (p.Val527=) c.1461T>C (p.Val487=) c.1835T>C c.1077T>C (p.Val359=) c.1458T>C (p.Val486=) c.1200T>C (p.Val400=) c.302T>C n.1731T>C n.1698T>C | |
| 19 | g.11113757T>G | CA505743335 | LDLR | c.1839T>G (p.Val613=) c.1581T>G (p.Val527=) c.1461T>G (p.Val487=) c.1835T>G c.1077T>G (p.Val359=) c.1458T>G (p.Val486=) c.1200T>G (p.Val400=) c.302T>G n.1731T>G n.1698T>G | |
| 19 | g.11113758C>A | CA404086615 | LDLR | c.1840C>A (p.His614Asn) c.1582C>A (p.His528Asn) c.1462C>A (p.His488Asn) c.1836C>A c.1078C>A (p.His360Asn) c.1459C>A (p.His487Asn) c.1201C>A (p.His401Asn) c.303C>A n.1732C>A n.1699C>A | gnomAD v4 |