| 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.11113631_11113632delinsCA | CA2322771953 | LDLR | c.1713_1714delinsCA (p.His571=) c.1455_1456delinsCA (p.His485=) c.1335_1336delinsCA (p.His445=) c.1709_1710delinsCA c.951_952delinsCA (p.His317=) c.1332_1333delinsCA (p.His444=) c.1074_1075delinsCA (p.His358=) c.176_177delinsCA n.1605_1606delinsCA n.1572_1573delinsCA | |
| 19 | g.11113632del | CA645373231 | LDLR | c.1714del (p.Ser572AlafsTer21) c.1456del (p.Ser486AlafsTer21) c.1336del (p.Ser446AlafsTer21) c.1710del c.952del (p.Ser318AlafsTer21) c.1333del (p.Ser445AlafsTer21) c.1075del (p.Ser359AlafsTer21) c.177del n.1606del n.1573del | ClinVar dbSNP |
| 19 | g.11113632A= | CA2322771954 | LDLR | c.1714A= (p.Ser572=) c.1456A= (p.Ser486=) c.1336A= (p.Ser446=) c.1710A= c.952A= (p.Ser318=) c.1333A= (p.Ser445=) c.1075A= (p.Ser359=) c.177A= n.1606A= n.1573A= | |
| 19 | g.11113632A>C | CA404086148 | LDLR | c.1714A>C (p.Ser572Arg) c.1456A>C (p.Ser486Arg) c.1336A>C (p.Ser446Arg) c.1710A>C c.952A>C (p.Ser318Arg) c.1333A>C (p.Ser445Arg) c.1075A>C (p.Ser359Arg) c.177A>C n.1606A>C n.1573A>C | |
| 19 | g.11113632A>G | CA10585462 | LDLR | c.1714A>G (p.Ser572Gly) c.1456A>G (p.Ser486Gly) c.1336A>G (p.Ser446Gly) c.1710A>G c.952A>G (p.Ser318Gly) c.1333A>G (p.Ser445Gly) c.1075A>G (p.Ser359Gly) c.177A>G n.1606A>G n.1573A>G | ClinVar dbSNP |
| 19 | g.11113632A>T | CA404086150 | LDLR | c.1714A>T (p.Ser572Cys) c.1456A>T (p.Ser486Cys) c.1336A>T (p.Ser446Cys) c.1710A>T c.952A>T (p.Ser318Cys) c.1333A>T (p.Ser445Cys) c.1075A>T (p.Ser359Cys) c.177A>T n.1606A>T n.1573A>T | |
| 19 | g.11113633G>A | CA10585463 | LDLR | c.1715G>A (p.Ser572Asn) c.1457G>A (p.Ser486Asn) c.1337G>A (p.Ser446Asn) c.1711G>A c.953G>A (p.Ser318Asn) c.1334G>A (p.Ser445Asn) c.1076G>A (p.Ser359Asn) c.178G>A n.1607G>A n.1574G>A | ClinVar dbSNP |
| 19 | g.11113633G>C | CA404086155 | LDLR | c.1715G>C (p.Ser572Thr) c.1457G>C (p.Ser486Thr) c.1337G>C (p.Ser446Thr) c.1711G>C c.953G>C (p.Ser318Thr) c.1334G>C (p.Ser445Thr) c.1076G>C (p.Ser359Thr) c.178G>C n.1607G>C n.1574G>C | |
| 19 | g.11113633G= | CA2322771955 | LDLR | c.1715G= (p.Ser572=) c.1457G= (p.Ser486=) c.1337G= (p.Ser446=) c.1711G= c.953G= (p.Ser318=) c.1334G= (p.Ser445=) c.1076G= (p.Ser359=) c.178G= n.1607G= n.1574G= | |
| 19 | g.11113633G>T | CA404086157 | LDLR | c.1715G>T (p.Ser572Ile) c.1457G>T (p.Ser486Ile) c.1337G>T (p.Ser446Ile) c.1711G>T c.953G>T (p.Ser318Ile) c.1334G>T (p.Ser445Ile) c.1076G>T (p.Ser359Ile) c.178G>T n.1607G>T n.1574G>T | |
| 19 | g.11113633_11113636delinsGCAA | CA2322771956 | LDLR | c.1715_1718delinsGCAA (p.Ser572=) c.1457_1460delinsGCAA (p.Ser486=) c.1337_1340delinsGCAA (p.Ser446=) c.1711_1714delinsGCAA c.953_956delinsGCAA (p.Ser318=) c.1334_1337delinsGCAA (p.Ser445=) c.1076_1079delinsGCAA (p.Ser359=) c.178_181delinsGCAA n.1607_1610delinsGCAA n.1574_1577delinsGCAA | |
| 19 | g.11113634C>A | CA404086162 | LDLR | c.1716C>A (p.Ser572Arg) c.1458C>A (p.Ser486Arg) c.1338C>A (p.Ser446Arg) c.1712C>A c.954C>A (p.Ser318Arg) c.1335C>A (p.Ser445Arg) c.1077C>A (p.Ser359Arg) c.179C>A n.1608C>A n.1575C>A | |
| 19 | g.11113634C>G | CA404086164 | LDLR | c.1716C>G (p.Ser572Arg) c.1458C>G (p.Ser486Arg) c.1338C>G (p.Ser446Arg) c.1712C>G c.954C>G (p.Ser318Arg) c.1335C>G (p.Ser445Arg) c.1077C>G (p.Ser359Arg) c.179C>G n.1608C>G n.1575C>G | |
| 19 | g.11113634C>T | CA505743142 | LDLR | c.1716C>T (p.Ser572=) c.1458C>T (p.Ser486=) c.1338C>T (p.Ser446=) c.1712C>T c.954C>T (p.Ser318=) c.1335C>T (p.Ser445=) c.1077C>T (p.Ser359=) c.179C>T n.1608C>T n.1575C>T | |
| 19 | g.11113636_11113638del | CA10585465 | LDLR | c.1718_1720del (p.Asn573del) c.1460_1462del (p.Asn487del) c.1340_1342del (p.Asn447del) c.1714_1716del c.956_958del (p.Asn319del) c.1337_1339del (p.Asn446del) c.1079_1081del (p.Asn360del) c.181_183del n.1610_1612del n.1577_1579del | ClinVar dbSNP |
| 19 | g.11113635_11113648dup | CA915952548 | LDLR | c.1717_1730dup (p.Asp578ThrfsTer20) c.1459_1472dup (p.Asp492ThrfsTer20) c.1339_1352dup (p.Asp452ThrfsTer20) c.1713_1726dup c.955_968dup (p.Asp324ThrfsTer20) c.1336_1349dup (p.Asp451ThrfsTer20) c.1078_1091dup (p.Asp365ThrfsTer20) c.180_193dup n.1609_1622dup n.1576_1589dup | ClinVar dbSNP |
| 19 | g.11113635A>C | CA404086168 | LDLR | c.1717A>C (p.Asn573His) c.1459A>C (p.Asn487His) c.1339A>C (p.Asn447His) c.1713A>C c.955A>C (p.Asn319His) c.1336A>C (p.Asn446His) c.1078A>C (p.Asn360His) c.180A>C n.1609A>C n.1576A>C | |
| 19 | g.11113635A>G | CA404086170 | LDLR | c.1717A>G (p.Asn573Asp) c.1459A>G (p.Asn487Asp) c.1339A>G (p.Asn447Asp) c.1713A>G c.955A>G (p.Asn319Asp) c.1336A>G (p.Asn446Asp) c.1078A>G (p.Asn360Asp) c.180A>G n.1609A>G n.1576A>G | |
| 19 | g.11113635A>T | CA404086172 | LDLR | c.1717A>T (p.Asn573Tyr) c.1459A>T (p.Asn487Tyr) c.1339A>T (p.Asn447Tyr) c.1713A>T c.955A>T (p.Asn319Tyr) c.1336A>T (p.Asn446Tyr) c.1078A>T (p.Asn360Tyr) c.180A>T n.1609A>T n.1576A>T | |
| 19 | g.11113636del | CA2497030065 | LDLR | c.1718del (p.Asn573ThrfsTer20) c.1460del (p.Asn487ThrfsTer20) c.1340del (p.Asn447ThrfsTer20) c.1714del c.956del (p.Asn319ThrfsTer20) c.1337del (p.Asn446ThrfsTer20) c.1079del (p.Asn360ThrfsTer20) c.181del n.1610del n.1577del | |
| 19 | g.11113636A= | CA2322771957 | LDLR | c.1718A= (p.Asn573=) c.1460A= (p.Asn487=) c.1340A= (p.Asn447=) c.1714A= c.956A= (p.Asn319=) c.1337A= (p.Asn446=) c.1079A= (p.Asn360=) c.181A= n.1610A= n.1577A= | |
| 19 | g.11113636A>C | CA404086180 | LDLR | c.1718A>C (p.Asn573Thr) c.1460A>C (p.Asn487Thr) c.1340A>C (p.Asn447Thr) c.1714A>C c.956A>C (p.Asn319Thr) c.1337A>C (p.Asn446Thr) c.1079A>C (p.Asn360Thr) c.181A>C n.1610A>C n.1577A>C | |
| 19 | g.11113636A>G | CA10585464 | LDLR | c.1718A>G (p.Asn573Ser) c.1460A>G (p.Asn487Ser) c.1340A>G (p.Asn447Ser) c.1714A>G c.956A>G (p.Asn319Ser) c.1337A>G (p.Asn446Ser) c.1079A>G (p.Asn360Ser) c.181A>G n.1610A>G n.1577A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113636A>T | CA404086175 | LDLR | c.1718A>T (p.Asn573Ile) c.1460A>T (p.Asn487Ile) c.1340A>T (p.Asn447Ile) c.1714A>T c.956A>T (p.Asn319Ile) c.1337A>T (p.Asn446Ile) c.1079A>T (p.Asn360Ile) c.181A>T n.1610A>T n.1577A>T | |
| 19 | g.11113637C>A | CA404086183 | LDLR | c.1719C>A (p.Asn573Lys) c.1461C>A (p.Asn487Lys) c.1341C>A (p.Asn447Lys) c.1715C>A c.957C>A (p.Asn319Lys) c.1338C>A (p.Asn446Lys) c.1080C>A (p.Asn360Lys) c.182C>A n.1611C>A n.1578C>A | |
| 19 | g.11113637C>G | CA404086186 | LDLR | c.1719C>G (p.Asn573Lys) c.1461C>G (p.Asn487Lys) c.1341C>G (p.Asn447Lys) c.1715C>G c.957C>G (p.Asn319Lys) c.1338C>G (p.Asn446Lys) c.1080C>G (p.Asn360Lys) c.182C>G n.1611C>G n.1578C>G | |
| 19 | g.11113637C>T | CA505743144 | LDLR | c.1719C>T (p.Asn573=) c.1461C>T (p.Asn487=) c.1341C>T (p.Asn447=) c.1715C>T c.957C>T (p.Asn319=) c.1338C>T (p.Asn446=) c.1080C>T (p.Asn360=) c.182C>T n.1611C>T n.1578C>T | ClinVar dbSNP |
| 19 | g.11113637dup | CA658799138 | LDLR | c.1719dup (p.Ile574HisfsTer?) c.1461dup (p.Ile488HisfsTer?) c.1341dup (p.Ile448HisfsTer?) c.1715dup c.957dup (p.Ile320HisfsTer?) c.1338dup (p.Ile447HisfsTer?) c.1080dup (p.Ile361HisfsTer?) c.182dup n.1611dup n.1578dup | ClinVar dbSNP |
| 19 | g.11113638A= | CA2322771958 | LDLR | c.1720A= (p.Ile574=) c.1462A= (p.Ile488=) c.1342A= (p.Ile448=) c.1716A= c.958A= (p.Ile320=) c.1339A= (p.Ile447=) c.1081A= (p.Ile361=) c.183A= n.1612A= n.1579A= | |
| 19 | g.11113638A>C | CA404086191 | LDLR | c.1720A>C (p.Ile574Leu) c.1462A>C (p.Ile488Leu) c.1342A>C (p.Ile448Leu) c.1716A>C c.958A>C (p.Ile320Leu) c.1339A>C (p.Ile447Leu) c.1081A>C (p.Ile361Leu) c.183A>C n.1612A>C n.1579A>C | |
| 19 | g.11113638A>G | CA404086194 | LDLR | c.1720A>G (p.Ile574Val) c.1462A>G (p.Ile488Val) c.1342A>G (p.Ile448Val) c.1716A>G c.958A>G (p.Ile320Val) c.1339A>G (p.Ile447Val) c.1081A>G (p.Ile361Val) c.183A>G n.1612A>G n.1579A>G | |
| 19 | g.11113638A>T | CA404086197 | LDLR | c.1720A>T (p.Ile574Phe) c.1462A>T (p.Ile488Phe) c.1342A>T (p.Ile448Phe) c.1716A>T c.958A>T (p.Ile320Phe) c.1339A>T (p.Ile447Phe) c.1081A>T (p.Ile361Phe) c.183A>T n.1612A>T n.1579A>T | |
| 19 | g.11113638_11113639insC | CA658799139 | LDLR | c.1720_1721insC (p.Ile574ThrfsTer?) c.1462_1463insC (p.Ile488ThrfsTer?) c.1342_1343insC (p.Ile448ThrfsTer?) c.1716_1717insC c.958_959insC (p.Ile320ThrfsTer?) c.1339_1340insC (p.Ile447ThrfsTer?) c.1081_1082insC (p.Ile361ThrfsTer?) c.183_184insC n.1612_1613insC n.1579_1580insC | ClinVar dbSNP |
| 19 | g.11113639T>A | CA10585466 | LDLR | c.1721T>A (p.Ile574Asn) c.1463T>A (p.Ile488Asn) c.1343T>A (p.Ile448Asn) c.1717T>A c.959T>A (p.Ile320Asn) c.1340T>A (p.Ile447Asn) c.1082T>A (p.Ile361Asn) c.184T>A n.1613T>A n.1580T>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113639T>C | CA10585467 | LDLR | c.1721T>C (p.Ile574Thr) c.1463T>C (p.Ile488Thr) c.1343T>C (p.Ile448Thr) c.1717T>C c.959T>C (p.Ile320Thr) c.1340T>C (p.Ile447Thr) c.1082T>C (p.Ile361Thr) c.184T>C n.1613T>C n.1580T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113639T>G | CA10585468 | LDLR | c.1721T>G (p.Ile574Ser) c.1463T>G (p.Ile488Ser) c.1343T>G (p.Ile448Ser) c.1717T>G c.959T>G (p.Ile320Ser) c.1340T>G (p.Ile447Ser) c.1082T>G (p.Ile361Ser) c.184T>G n.1613T>G n.1580T>G | ClinVar dbSNP |
| 19 | g.11113639T= | CA2322771959 | LDLR | c.1721T= (p.Ile574=) c.1463T= (p.Ile488=) c.1343T= (p.Ile448=) c.1717T= c.959T= (p.Ile320=) c.1340T= (p.Ile447=) c.1082T= (p.Ile361=) c.184T= n.1613T= n.1580T= | |
| 19 | g.11113640_11113641del | CA2580096442 | LDLR | c.1722_1723del (p.Tyr575LeufsTer?) c.1464_1465del (p.Tyr489LeufsTer?) c.1344_1345del (p.Tyr449LeufsTer?) c.1718_1719del c.960_961del (p.Tyr321LeufsTer?) c.1341_1342del (p.Tyr448LeufsTer?) c.1083_1084del (p.Tyr362LeufsTer?) c.185_186del n.1614_1615del n.1581_1582del | ClinVar |
| 19 | g.11113640C>A | CA505743152 | LDLR | c.1722C>A (p.Ile574=) c.1464C>A (p.Ile488=) c.1344C>A (p.Ile448=) c.1718C>A c.960C>A (p.Ile320=) c.1341C>A (p.Ile447=) c.1083C>A (p.Ile361=) c.185C>A n.1614C>A n.1581C>A | gnomAD v4 |
| 19 | g.11113640C= | CA2322771960 | LDLR | c.1722C= (p.Ile574=) c.1464C= (p.Ile488=) c.1344C= (p.Ile448=) c.1718C= c.960C= (p.Ile320=) c.1341C= (p.Ile447=) c.1083C= (p.Ile361=) c.185C= n.1614C= n.1581C= | |
| 19 | g.11113640C>G | CA305300112 | LDLR | c.1722C>G (p.Ile574Met) c.1464C>G (p.Ile488Met) c.1344C>G (p.Ile448Met) c.1718C>G c.960C>G (p.Ile320Met) c.1341C>G (p.Ile447Met) c.1083C>G (p.Ile361Met) c.185C>G n.1614C>G n.1581C>G | dbSNP gnomAD v4 |
| 19 | g.11113640C>T | CA505743154 | LDLR | c.1722C>T (p.Ile574=) c.1464C>T (p.Ile488=) c.1344C>T (p.Ile448=) c.1718C>T c.960C>T (p.Ile320=) c.1341C>T (p.Ile447=) c.1083C>T (p.Ile361=) c.185C>T n.1614C>T n.1581C>T | |
| 19 | g.11113641T>A | CA404086209 | LDLR | c.1723T>A (p.Tyr575Asn) c.1465T>A (p.Tyr489Asn) c.1345T>A (p.Tyr449Asn) c.1719T>A c.961T>A (p.Tyr321Asn) c.1342T>A (p.Tyr448Asn) c.1084T>A (p.Tyr362Asn) c.186T>A n.1615T>A n.1582T>A | |
| 19 | g.11113641T>C | CA404086210 | LDLR | c.1723T>C (p.Tyr575His) c.1465T>C (p.Tyr489His) c.1345T>C (p.Tyr449His) c.1719T>C c.961T>C (p.Tyr321His) c.1342T>C (p.Tyr448His) c.1084T>C (p.Tyr362His) c.186T>C n.1615T>C n.1582T>C | |
| 19 | g.11113641T>G | CA404086211 | LDLR | c.1723T>G (p.Tyr575Asp) c.1465T>G (p.Tyr489Asp) c.1345T>G (p.Tyr449Asp) c.1719T>G c.961T>G (p.Tyr321Asp) c.1342T>G (p.Tyr448Asp) c.1084T>G (p.Tyr362Asp) c.186T>G n.1615T>G n.1582T>G | |
| 19 | g.11113642A= | CA2322771961 | LDLR | c.1724A= (p.Tyr575=) c.1466A= (p.Tyr489=) c.1346A= (p.Tyr449=) c.1720A= c.962A= (p.Tyr321=) c.1343A= (p.Tyr448=) c.1085A= (p.Tyr362=) c.187A= n.1616A= n.1583A= |