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.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.11113643C>A | CA404086227 | LDLR | c.1725C>A (p.Tyr575Ter) c.1467C>A (p.Tyr489Ter) c.1347C>A (p.Tyr449Ter) c.1721C>A c.963C>A (p.Tyr321Ter) c.1344C>A (p.Tyr448Ter) c.1086C>A (p.Tyr362Ter) c.188C>A n.1617C>A n.1584C>A | ClinVar dbSNP |
19 | g.11113643C= | CA2322771962 | LDLR | c.1725C= (p.Tyr575=) c.1467C= (p.Tyr489=) c.1347C= (p.Tyr449=) c.1721C= c.963C= (p.Tyr321=) c.1344C= (p.Tyr448=) c.1086C= (p.Tyr362=) c.188C= n.1617C= n.1584C= | |
19 | g.11113643C>G | CA023505 | LDLR | c.1725C>G (p.Tyr575Ter) c.1467C>G (p.Tyr489Ter) c.1347C>G (p.Tyr449Ter) c.1721C>G c.963C>G (p.Tyr321Ter) c.1344C>G (p.Tyr448Ter) c.1086C>G (p.Tyr362Ter) c.188C>G n.1617C>G n.1584C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113643C>T | CA505743158 | LDLR | c.1725C>T (p.Tyr575=) c.1467C>T (p.Tyr489=) c.1347C>T (p.Tyr449=) c.1721C>T c.963C>T (p.Tyr321=) c.1344C>T (p.Tyr448=) c.1086C>T (p.Tyr362=) c.188C>T n.1617C>T n.1584C>T | ClinVar dbSNP |
19 | g.11113644T>A | CA404086231 | LDLR | c.1726T>A (p.Trp576Arg) c.1468T>A (p.Trp490Arg) c.1348T>A (p.Trp450Arg) c.1722T>A c.964T>A (p.Trp322Arg) c.1345T>A (p.Trp449Arg) c.1087T>A (p.Trp363Arg) c.189T>A n.1618T>A n.1585T>A | |
19 | g.11113644T>C | CA023507 | LDLR | c.1726T>C (p.Trp576Arg) c.1468T>C (p.Trp490Arg) c.1348T>C (p.Trp450Arg) c.1722T>C c.964T>C (p.Trp322Arg) c.1345T>C (p.Trp449Arg) c.1087T>C (p.Trp363Arg) c.189T>C n.1618T>C n.1585T>C | ClinVar dbSNP |
19 | g.11113644T>G | CA10585470 | LDLR | c.1726T>G (p.Trp576Gly) c.1468T>G (p.Trp490Gly) c.1348T>G (p.Trp450Gly) c.1722T>G c.964T>G (p.Trp322Gly) c.1345T>G (p.Trp449Gly) c.1087T>G (p.Trp363Gly) c.189T>G n.1618T>G n.1585T>G | ClinVar dbSNP |
19 | g.11113644T= | CA2322771963 | LDLR | c.1726T= (p.Trp576=) c.1468T= (p.Trp490=) c.1348T= (p.Trp450=) c.1722T= c.964T= (p.Trp322=) c.1345T= (p.Trp449=) c.1087T= (p.Trp363=) c.189T= n.1618T= n.1585T= | |
19 | g.11113645G>A | CA10576307 | LDLR | c.1727G>A (p.Trp576Ter) c.1469G>A (p.Trp490Ter) c.1349G>A (p.Trp450Ter) c.1723G>A c.965G>A (p.Trp322Ter) c.1346G>A (p.Trp449Ter) c.1088G>A (p.Trp363Ter) c.190G>A n.1619G>A n.1586G>A | ClinVar dbSNP |
19 | g.11113645G>C | CA404086238 | LDLR | c.1727G>C (p.Trp576Ser) c.1469G>C (p.Trp490Ser) c.1349G>C (p.Trp450Ser) c.1723G>C c.965G>C (p.Trp322Ser) c.1346G>C (p.Trp449Ser) c.1088G>C (p.Trp363Ser) c.190G>C n.1619G>C n.1586G>C | ClinVar |
19 | g.11113645G= | CA2322771964 | LDLR | c.1727G= (p.Trp576=) c.1469G= (p.Trp490=) c.1349G= (p.Trp450=) c.1723G= c.965G= (p.Trp322=) c.1346G= (p.Trp449=) c.1088G= (p.Trp363=) c.190G= n.1619G= n.1586G= | |
19 | g.11113645G>T | CA10576308 | LDLR | c.1727G>T (p.Trp576Leu) c.1469G>T (p.Trp490Leu) c.1349G>T (p.Trp450Leu) c.1723G>T c.965G>T (p.Trp322Leu) c.1346G>T (p.Trp449Leu) c.1088G>T (p.Trp363Leu) c.190G>T n.1619G>T n.1586G>T | ClinVar dbSNP |
19 | g.11113646G>A | CA10585471 | LDLR | c.1728G>A (p.Trp576Ter) c.1470G>A (p.Trp490Ter) c.1350G>A (p.Trp450Ter) c.1724G>A c.966G>A (p.Trp322Ter) c.1347G>A (p.Trp449Ter) c.1089G>A (p.Trp363Ter) c.191G>A n.1620G>A n.1587G>A | ClinVar dbSNP |
19 | g.11113646G>C | CA404086245 | LDLR | c.1728G>C (p.Trp576Cys) c.1470G>C (p.Trp490Cys) c.1350G>C (p.Trp450Cys) c.1724G>C c.966G>C (p.Trp322Cys) c.1347G>C (p.Trp449Cys) c.1089G>C (p.Trp363Cys) c.191G>C n.1620G>C n.1587G>C | ClinVar dbSNP |
19 | g.11113646G= | CA2322771965 | LDLR | c.1728G= (p.Trp576=) c.1470G= (p.Trp490=) c.1350G= (p.Trp450=) c.1724G= c.966G= (p.Trp322=) c.1347G= (p.Trp449=) c.1089G= (p.Trp363=) c.191G= n.1620G= n.1587G= | |
19 | g.11113646G>T | CA404086248 | LDLR | c.1728G>T (p.Trp576Cys) c.1470G>T (p.Trp490Cys) c.1350G>T (p.Trp450Cys) c.1724G>T c.966G>T (p.Trp322Cys) c.1347G>T (p.Trp449Cys) c.1089G>T (p.Trp363Cys) c.191G>T n.1620G>T n.1587G>T | ClinVar gnomAD v4 |
19 | g.11113647A>C | CA404086257 | LDLR | c.1729A>C (p.Thr577Pro) c.1471A>C (p.Thr491Pro) c.1351A>C (p.Thr451Pro) c.1725A>C c.967A>C (p.Thr323Pro) c.1348A>C (p.Thr450Pro) c.1090A>C (p.Thr364Pro) c.192A>C n.1621A>C n.1588A>C | |
19 | g.11113647A>G | CA404086255 | LDLR | c.1729A>G (p.Thr577Ala) c.1471A>G (p.Thr491Ala) c.1351A>G (p.Thr451Ala) c.1725A>G c.967A>G (p.Thr323Ala) c.1348A>G (p.Thr450Ala) c.1090A>G (p.Thr364Ala) c.192A>G n.1621A>G n.1588A>G | ClinVar |
19 | g.11113647A>T | CA404086253 | LDLR | c.1729A>T (p.Thr577Ser) c.1471A>T (p.Thr491Ser) c.1351A>T (p.Thr451Ser) c.1725A>T c.967A>T (p.Thr323Ser) c.1348A>T (p.Thr450Ser) c.1090A>T (p.Thr364Ser) c.192A>T n.1621A>T n.1588A>T | |
19 | g.11113647dup | CA10585472 | LDLR | c.1729dup (p.Thr577AsnfsTer?) c.1471dup (p.Thr491AsnfsTer?) c.1351dup (p.Thr451AsnfsTer?) c.1725dup c.967dup (p.Thr323AsnfsTer?) c.1348dup (p.Thr450AsnfsTer?) c.1090dup (p.Thr364AsnfsTer?) c.192dup n.1621dup n.1588dup | ClinVar dbSNP |
19 | g.11113648C>A | CA10585473 | LDLR | c.1730C>A (p.Thr577Asn) c.1472C>A (p.Thr491Asn) c.1352C>A (p.Thr451Asn) c.1726C>A c.968C>A (p.Thr323Asn) c.1349C>A (p.Thr450Asn) c.1091C>A (p.Thr364Asn) c.193C>A n.1622C>A n.1589C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113648C= | CA2322771966 | LDLR | c.1730C= (p.Thr577=) c.1472C= (p.Thr491=) c.1352C= (p.Thr451=) c.1726C= c.968C= (p.Thr323=) c.1349C= (p.Thr450=) c.1091C= (p.Thr364=) c.193C= n.1622C= n.1589C= | |
19 | g.11113648C>G | CA404086262 | LDLR | c.1730C>G (p.Thr577Ser) c.1472C>G (p.Thr491Ser) c.1352C>G (p.Thr451Ser) c.1726C>G c.968C>G (p.Thr323Ser) c.1349C>G (p.Thr450Ser) c.1091C>G (p.Thr364Ser) c.193C>G n.1622C>G n.1589C>G | |
19 | g.11113648C>T | CA404086265 | LDLR | c.1730C>T (p.Thr577Ile) c.1472C>T (p.Thr491Ile) c.1352C>T (p.Thr451Ile) c.1726C>T c.968C>T (p.Thr323Ile) c.1349C>T (p.Thr450Ile) c.1091C>T (p.Thr364Ile) c.193C>T n.1622C>T n.1589C>T | |
19 | g.11113649C>A | CA505743243 | LDLR | c.1731C>A (p.Thr577=) c.1473C>A (p.Thr491=) c.1353C>A (p.Thr451=) c.1727C>A c.969C>A (p.Thr323=) c.1350C>A (p.Thr450=) c.1092C>A (p.Thr364=) c.194C>A n.1623C>A n.1590C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113649C= | CA2322771968 | LDLR | c.1731C= (p.Thr577=) c.1473C= (p.Thr491=) c.1353C= (p.Thr451=) c.1727C= c.969C= (p.Thr323=) c.1350C= (p.Thr450=) c.1092C= (p.Thr364=) c.194C= n.1623C= n.1590C= | |
19 | g.11113649C>G | CA505743244 | LDLR | c.1731C>G (p.Thr577=) c.1473C>G (p.Thr491=) c.1353C>G (p.Thr451=) c.1727C>G c.969C>G (p.Thr323=) c.1350C>G (p.Thr450=) c.1092C>G (p.Thr364=) c.194C>G n.1623C>G n.1590C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113649C>T | CA034436 | LDLR | c.1731C>T (p.Thr577=) c.1473C>T (p.Thr491=) c.1353C>T (p.Thr451=) c.1727C>T c.969C>T (p.Thr323=) c.1350C>T (p.Thr450=) c.1092C>T (p.Thr364=) c.194C>T n.1623C>T n.1590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113649_11113650delinsCG | CA2322771967 | LDLR | c.1731_1732delinsCG (p.Thr577=) c.1473_1474delinsCG (p.Thr491=) c.1353_1354delinsCG (p.Thr451=) c.1727_1728delinsCG c.969_970delinsCG (p.Thr323=) c.1350_1351delinsCG (p.Thr450=) c.1092_1093delinsCG (p.Thr364=) c.194_195delinsCG n.1623_1624delinsCG n.1590_1591delinsCG | |
19 | g.11113650del | CA645373232 | LDLR | c.1732del (p.Asp578ThrfsTer15) c.1474del (p.Asp492ThrfsTer15) c.1354del (p.Asp452ThrfsTer15) c.1728del c.970del (p.Asp324ThrfsTer15) c.1351del (p.Asp451ThrfsTer15) c.1093del (p.Asp365ThrfsTer15) c.195del n.1624del n.1591del | ClinVar dbSNP |
19 | g.11113650G>A | CA023512 | LDLR | c.1732G>A (p.Asp578Asn) c.1474G>A (p.Asp492Asn) c.1354G>A (p.Asp452Asn) c.1728G>A c.970G>A (p.Asp324Asn) c.1351G>A (p.Asp451Asn) c.1093G>A (p.Asp365Asn) c.195G>A n.1624G>A n.1591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113650G>C | CA10585474 | LDLR | c.1732G>C (p.Asp578His) c.1474G>C (p.Asp492His) c.1354G>C (p.Asp452His) c.1728G>C c.970G>C (p.Asp324His) c.1351G>C (p.Asp451His) c.1093G>C (p.Asp365His) c.195G>C n.1624G>C n.1591G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113650G= | CA2322771969 | LDLR | c.1732G= (p.Asp578=) c.1474G= (p.Asp492=) c.1354G= (p.Asp452=) c.1728G= c.970G= (p.Asp324=) c.1351G= (p.Asp451=) c.1093G= (p.Asp365=) c.195G= n.1624G= n.1591G= | |
19 | g.11113650G>T | CA404086274 | LDLR | c.1732G>T (p.Asp578Tyr) c.1474G>T (p.Asp492Tyr) c.1354G>T (p.Asp452Tyr) c.1728G>T c.970G>T (p.Asp324Tyr) c.1351G>T (p.Asp451Tyr) c.1093G>T (p.Asp365Tyr) c.195G>T n.1624G>T n.1591G>T | ClinVar gnomAD v4 |
19 | g.11113651A= | CA2322771971 | LDLR | c.1733A= (p.Asp578=) c.1475A= (p.Asp492=) c.1355A= (p.Asp452=) c.1729A= c.971A= (p.Asp324=) c.1352A= (p.Asp451=) c.1094A= (p.Asp365=) c.196A= n.1625A= n.1592A= | |
19 | g.11113651A>C | CA404086278 | LDLR | c.1733A>C (p.Asp578Ala) c.1475A>C (p.Asp492Ala) c.1355A>C (p.Asp452Ala) c.1729A>C c.971A>C (p.Asp324Ala) c.1352A>C (p.Asp451Ala) c.1094A>C (p.Asp365Ala) c.196A>C n.1625A>C n.1592A>C | |
19 | g.11113651A>G | CA10585475 | LDLR | c.1733A>G (p.Asp578Gly) c.1475A>G (p.Asp492Gly) c.1355A>G (p.Asp452Gly) c.1729A>G c.971A>G (p.Asp324Gly) c.1352A>G (p.Asp451Gly) c.1094A>G (p.Asp365Gly) c.196A>G n.1625A>G n.1592A>G | ClinVar dbSNP |
19 | g.11113651A>T | CA404086282 | LDLR | c.1733A>T (p.Asp578Val) c.1475A>T (p.Asp492Val) c.1355A>T (p.Asp452Val) c.1729A>T c.971A>T (p.Asp324Val) c.1352A>T (p.Asp451Val) c.1094A>T (p.Asp365Val) c.196A>T n.1625A>T n.1592A>T | |
19 | g.11113651_11113653delinsACT | CA2322771970 | LDLR | c.1733_1735delinsACT (p.Asp578=) c.1475_1477delinsACT (p.Asp492=) c.1355_1357delinsACT (p.Asp452=) c.1729_1731delinsACT c.971_973delinsACT (p.Asp324=) c.1352_1354delinsACT (p.Asp451=) c.1094_1096delinsACT (p.Asp365=) c.196_198delinsACT n.1625_1627delinsACT n.1592_1594delinsACT | |
19 | g.11113652C>A | CA404086296 | LDLR | c.1734C>A (p.Asp578Glu) c.1476C>A (p.Asp492Glu) c.1356C>A (p.Asp452Glu) c.1730C>A c.972C>A (p.Asp324Glu) c.1353C>A (p.Asp451Glu) c.1095C>A (p.Asp365Glu) c.197C>A n.1626C>A n.1593C>A | |
19 | g.11113652C>G | CA404086294 | LDLR | c.1734C>G (p.Asp578Glu) c.1476C>G (p.Asp492Glu) c.1356C>G (p.Asp452Glu) c.1730C>G c.972C>G (p.Asp324Glu) c.1353C>G (p.Asp451Glu) c.1095C>G (p.Asp365Glu) c.197C>G n.1626C>G n.1593C>G | |
19 | g.11113652C>T | CA505743249 | LDLR | c.1734C>T (p.Asp578=) c.1476C>T (p.Asp492=) c.1356C>T (p.Asp452=) c.1730C>T c.972C>T (p.Asp324=) c.1353C>T (p.Asp451=) c.1095C>T (p.Asp365=) c.197C>T n.1626C>T n.1593C>T | |
19 | g.11113652_11113655delinsCTCT | CA2322771972 | LDLR | c.1734_1737delinsCTCT (p.Asp578=) c.1476_1479delinsCTCT (p.Asp492=) c.1356_1359delinsCTCT (p.Asp452=) c.1730_1733delinsCTCT c.972_975delinsCTCT (p.Asp324=) c.1353_1356delinsCTCT (p.Asp451=) c.1095_1098delinsCTCT (p.Asp365=) c.197_200delinsCTCT n.1626_1629delinsCTCT n.1593_1596delinsCTCT | |
19 | g.11113654_11113655del | CA351758 | LDLR | c.1736_1737del (p.Ser579CysfsTer?) c.1478_1479del (p.Ser493CysfsTer?) c.1358_1359del (p.Ser453CysfsTer?) c.1732_1733del c.974_975del (p.Ser325CysfsTer?) c.1355_1356del (p.Ser452CysfsTer?) c.1097_1098del (p.Ser366CysfsTer?) c.199_200del n.1628_1629del n.1595_1596del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113653_11113664del | CA2695228182 | LDLR | c.1735_1746del (p.Ser579_Gly582del) c.1477_1488del (p.Ser493_Gly496del) c.1357_1368del (p.Ser453_Gly456del) c.1731_1742del c.973_984del (p.Ser325_Gly328del) c.1354_1365del (p.Ser452_Gly455del) c.1096_1107del (p.Ser366_Gly369del) c.198_209del n.1627_1638del n.1594_1605del | |
19 | g.11113653T>A | CA404086309 | LDLR | c.1735T>A (p.Ser579Thr) c.1477T>A (p.Ser493Thr) c.1357T>A (p.Ser453Thr) c.1731T>A c.973T>A (p.Ser325Thr) c.1354T>A (p.Ser452Thr) c.1096T>A (p.Ser366Thr) c.198T>A n.1627T>A n.1594T>A | |
19 | g.11113653T>C | CA404086303 | LDLR | c.1735T>C (p.Ser579Pro) c.1477T>C (p.Ser493Pro) c.1357T>C (p.Ser453Pro) c.1731T>C c.973T>C (p.Ser325Pro) c.1354T>C (p.Ser452Pro) c.1096T>C (p.Ser366Pro) c.198T>C n.1627T>C n.1594T>C | |
19 | g.11113653T>G | CA404086306 | LDLR | c.1735T>G (p.Ser579Ala) c.1477T>G (p.Ser493Ala) c.1357T>G (p.Ser453Ala) c.1731T>G c.973T>G (p.Ser325Ala) c.1354T>G (p.Ser452Ala) c.1096T>G (p.Ser366Ala) c.198T>G n.1627T>G n.1594T>G | |
19 | g.11113653_11113654delinsTC | CA2322771973 | LDLR | c.1735_1736delinsTC (p.Ser579=) c.1477_1478delinsTC (p.Ser493=) c.1357_1358delinsTC (p.Ser453=) c.1731_1732delinsTC c.973_974delinsTC (p.Ser325=) c.1354_1355delinsTC (p.Ser452=) c.1096_1097delinsTC (p.Ser366=) c.198_199delinsTC n.1627_1628delinsTC n.1594_1595delinsTC | |
19 | g.11113653_11113655delinsAGAGACA | CA10585476 | LDLR | c.1735_1737delinsAGAGACA (p.Ser579ArgfsTer?) c.1477_1479delinsAGAGACA (p.Ser493ArgfsTer?) c.1357_1359delinsAGAGACA (p.Ser453ArgfsTer?) c.1731_1733delinsAGAGACA c.973_975delinsAGAGACA (p.Ser325ArgfsTer?) c.1354_1356delinsAGAGACA (p.Ser452ArgfsTer?) c.1096_1098delinsAGAGACA (p.Ser366ArgfsTer?) c.198_200delinsAGAGACA n.1627_1629delinsAGAGACA n.1594_1596delinsAGAGACA | ClinVar dbSNP |
19 | g.11113654del | CA16602330 | LDLR | c.1736del (p.Ser579LeufsTer14) c.1478del (p.Ser493LeufsTer14) c.1358del (p.Ser453LeufsTer14) c.1732del c.974del (p.Ser325LeufsTer14) c.1355del (p.Ser452LeufsTer14) c.1097del (p.Ser366LeufsTer14) c.199del n.1628del n.1595del | ClinVar dbSNP |
19 | g.11113654C>A | CA404086320 | LDLR | c.1736C>A (p.Ser579Tyr) c.1478C>A (p.Ser493Tyr) c.1358C>A (p.Ser453Tyr) c.1732C>A c.974C>A (p.Ser325Tyr) c.1355C>A (p.Ser452Tyr) c.1097C>A (p.Ser366Tyr) c.199C>A n.1628C>A n.1595C>A | |
19 | g.11113654C= | CA2322771974 | LDLR | c.1736C= (p.Ser579=) c.1478C= (p.Ser493=) c.1358C= (p.Ser453=) c.1732C= c.974C= (p.Ser325=) c.1355C= (p.Ser452=) c.1097C= (p.Ser366=) c.199C= n.1628C= n.1595C= | |
19 | g.11113654C>G | CA404086311 | LDLR | c.1736C>G (p.Ser579Cys) c.1478C>G (p.Ser493Cys) c.1358C>G (p.Ser453Cys) c.1732C>G c.974C>G (p.Ser325Cys) c.1355C>G (p.Ser452Cys) c.1097C>G (p.Ser366Cys) c.199C>G n.1628C>G n.1595C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113654C>T | CA404086314 | LDLR | c.1736C>T (p.Ser579Phe) c.1478C>T (p.Ser493Phe) c.1358C>T (p.Ser453Phe) c.1732C>T c.974C>T (p.Ser325Phe) c.1355C>T (p.Ser452Phe) c.1097C>T (p.Ser366Phe) c.199C>T n.1628C>T n.1595C>T | |
19 | g.11113655T>A | CA505743252 | LDLR | c.1737T>A (p.Ser579=) c.1479T>A (p.Ser493=) c.1359T>A (p.Ser453=) c.1733T>A c.975T>A (p.Ser325=) c.1356T>A (p.Ser452=) c.1098T>A (p.Ser366=) c.200T>A n.1629T>A n.1596T>A | |
19 | g.11113655T>C | CA034467 | LDLR | c.1737T>C (p.Ser579=) c.1479T>C (p.Ser493=) c.1359T>C (p.Ser453=) c.1733T>C c.975T>C (p.Ser325=) c.1356T>C (p.Ser452=) c.1098T>C (p.Ser366=) c.200T>C n.1629T>C n.1596T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113655T>G | CA505743254 | LDLR | c.1737T>G (p.Ser579=) c.1479T>G (p.Ser493=) c.1359T>G (p.Ser453=) c.1733T>G c.975T>G (p.Ser325=) c.1356T>G (p.Ser452=) c.1098T>G (p.Ser366=) c.200T>G n.1629T>G n.1596T>G | |
19 | g.11113655T= | CA2322771975 | LDLR | c.1737T= (p.Ser579=) c.1479T= (p.Ser493=) c.1359T= (p.Ser453=) c.1733T= c.975T= (p.Ser325=) c.1356T= (p.Ser452=) c.1098T= (p.Ser366=) c.200T= n.1629T= n.1596T= | |
19 | g.11113656G>A | CA404086326 | LDLR | c.1738G>A (p.Val580Ile) c.1480G>A (p.Val494Ile) c.1360G>A (p.Val454Ile) c.1734G>A c.976G>A (p.Val326Ile) c.1357G>A (p.Val453Ile) c.1099G>A (p.Val367Ile) c.201G>A n.1630G>A n.1597G>A | |
19 | g.11113656G>C | CA404086327 | LDLR | c.1738G>C (p.Val580Leu) c.1480G>C (p.Val494Leu) c.1360G>C (p.Val454Leu) c.1734G>C c.976G>C (p.Val326Leu) c.1357G>C (p.Val453Leu) c.1099G>C (p.Val367Leu) c.201G>C n.1630G>C n.1597G>C | |
19 | g.11113656G>T | CA404086329 | LDLR | c.1738G>T (p.Val580Phe) c.1480G>T (p.Val494Phe) c.1360G>T (p.Val454Phe) c.1734G>T c.976G>T (p.Val326Phe) c.1357G>T (p.Val453Phe) c.1099G>T (p.Val367Phe) c.201G>T n.1630G>T n.1597G>T | |
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.11113657T>A | CA404086334 | LDLR | c.1739T>A (p.Val580Asp) c.1481T>A (p.Val494Asp) c.1361T>A (p.Val454Asp) c.1735T>A c.977T>A (p.Val326Asp) c.1358T>A (p.Val453Asp) c.1100T>A (p.Val367Asp) c.202T>A n.1631T>A n.1598T>A | |
19 | g.11113657T>C | CA404086336 | LDLR | c.1739T>C (p.Val580Ala) c.1481T>C (p.Val494Ala) c.1361T>C (p.Val454Ala) c.1735T>C c.977T>C (p.Val326Ala) c.1358T>C (p.Val453Ala) c.1100T>C (p.Val367Ala) c.202T>C n.1631T>C n.1598T>C | |
19 | g.11113657T>G | CA404086338 | LDLR | c.1739T>G (p.Val580Gly) c.1481T>G (p.Val494Gly) c.1361T>G (p.Val454Gly) c.1735T>G c.977T>G (p.Val326Gly) c.1358T>G (p.Val453Gly) c.1100T>G (p.Val367Gly) c.202T>G n.1631T>G n.1598T>G | |
19 | g.11113658C>A | CA505743259 | LDLR | c.1740C>A (p.Val580=) c.1482C>A (p.Val494=) c.1362C>A (p.Val454=) c.1736C>A c.978C>A (p.Val326=) c.1359C>A (p.Val453=) c.1101C>A (p.Val367=) c.203C>A n.1632C>A n.1599C>A | |
19 | g.11113658C= | CA2322771976 | LDLR | c.1740C= (p.Val580=) c.1482C= (p.Val494=) c.1362C= (p.Val454=) c.1736C= c.978C= (p.Val326=) c.1359C= (p.Val453=) c.1101C= (p.Val367=) c.203C= n.1632C= n.1599C= | |
19 | g.11113658C>G | CA034482 | LDLR | c.1740C>G (p.Val580=) c.1482C>G (p.Val494=) c.1362C>G (p.Val454=) c.1736C>G c.978C>G (p.Val326=) c.1359C>G (p.Val453=) c.1101C>G (p.Val367=) c.203C>G n.1632C>G n.1599C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113658C>T | CA505743257 | LDLR | c.1740C>T (p.Val580=) c.1482C>T (p.Val494=) c.1362C>T (p.Val454=) c.1736C>T c.978C>T (p.Val326=) c.1359C>T (p.Val453=) c.1101C>T (p.Val367=) c.203C>T n.1632C>T n.1599C>T | |
19 | g.11113659C>A | CA404086344 | LDLR | c.1741C>A (p.Leu581Met) c.1483C>A (p.Leu495Met) c.1363C>A (p.Leu455Met) c.1737C>A c.979C>A (p.Leu327Met) c.1360C>A (p.Leu454Met) c.1102C>A (p.Leu368Met) c.204C>A n.1633C>A n.1600C>A | |
19 | g.11113659C= | CA2322771977 | LDLR | c.1741C= (p.Leu581=) c.1483C= (p.Leu495=) c.1363C= (p.Leu455=) c.1737C= c.979C= (p.Leu327=) c.1360C= (p.Leu454=) c.1102C= (p.Leu368=) c.204C= n.1633C= n.1600C= | |
19 | g.11113659C>G | CA404086346 | LDLR | c.1741C>G (p.Leu581Val) c.1483C>G (p.Leu495Val) c.1363C>G (p.Leu455Val) c.1737C>G c.979C>G (p.Leu327Val) c.1360C>G (p.Leu454Val) c.1102C>G (p.Leu368Val) c.204C>G n.1633C>G n.1600C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113659C>T | CA505743264 | LDLR | c.1741C>T (p.Leu581=) c.1483C>T (p.Leu495=) c.1363C>T (p.Leu455=) c.1737C>T c.979C>T (p.Leu327=) c.1360C>T (p.Leu454=) c.1102C>T (p.Leu368=) c.204C>T n.1633C>T n.1600C>T | ClinVar dbSNP |
19 | g.11113660T>A | CA404086355 | LDLR | c.1742T>A (p.Leu581Gln) c.1484T>A (p.Leu495Gln) c.1364T>A (p.Leu455Gln) c.1738T>A c.980T>A (p.Leu327Gln) c.1361T>A (p.Leu454Gln) c.1103T>A (p.Leu368Gln) c.205T>A n.1634T>A n.1601T>A | |
19 | g.11113660T>C | CA404086354 | LDLR | c.1742T>C (p.Leu581Pro) c.1484T>C (p.Leu495Pro) c.1364T>C (p.Leu455Pro) c.1738T>C c.980T>C (p.Leu327Pro) c.1361T>C (p.Leu454Pro) c.1103T>C (p.Leu368Pro) c.205T>C n.1634T>C n.1601T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113660T>G | CA404086351 | LDLR | c.1742T>G (p.Leu581Arg) c.1484T>G (p.Leu495Arg) c.1364T>G (p.Leu455Arg) c.1738T>G c.980T>G (p.Leu327Arg) c.1361T>G (p.Leu454Arg) c.1103T>G (p.Leu368Arg) c.205T>G n.1634T>G n.1601T>G | ClinVar dbSNP |
19 | g.11113660T= | CA2322771979 | LDLR | c.1742T= (p.Leu581=) c.1484T= (p.Leu495=) c.1364T= (p.Leu455=) c.1738T= c.980T= (p.Leu327=) c.1361T= (p.Leu454=) c.1103T= (p.Leu368=) c.205T= n.1634T= n.1601T= | |
19 | g.11113660_11113662delinsTGG | CA2322771978 | LDLR | c.1742_1744delinsTGG (p.Leu581=) c.1484_1486delinsTGG (p.Leu495=) c.1364_1366delinsTGG (p.Leu455=) c.1738_1740delinsTGG c.980_982delinsTGG (p.Leu327=) c.1361_1363delinsTGG (p.Leu454=) c.1103_1105delinsTGG (p.Leu368=) c.205_207delinsTGG n.1634_1636delinsTGG n.1601_1603delinsTGG | |
19 | g.11113661G>A | CA505743265 | LDLR | c.1743G>A (p.Leu581=) c.1485G>A (p.Leu495=) c.1365G>A (p.Leu455=) c.1739G>A c.981G>A (p.Leu327=) c.1362G>A (p.Leu454=) c.1104G>A (p.Leu368=) c.206G>A n.1635G>A n.1602G>A | ClinVar |
19 | g.11113661G>C | CA505743266 | LDLR | c.1743G>C (p.Leu581=) c.1485G>C (p.Leu495=) c.1365G>C (p.Leu455=) c.1739G>C c.981G>C (p.Leu327=) c.1362G>C (p.Leu454=) c.1104G>C (p.Leu368=) c.206G>C n.1635G>C n.1602G>C | |
19 | g.11113661G>T | CA505743267 | LDLR | c.1743G>T (p.Leu581=) c.1485G>T (p.Leu495=) c.1365G>T (p.Leu455=) c.1739G>T c.981G>T (p.Leu327=) c.1362G>T (p.Leu454=) c.1104G>T (p.Leu368=) c.206G>T n.1635G>T n.1602G>T | |
19 | g.11113662_11113663del | CA351943 | LDLR | c.1744_1745del (p.Gly582HisfsTer?) c.1486_1487del (p.Gly496HisfsTer?) c.1366_1367del (p.Gly456HisfsTer?) c.1740_1741del c.982_983del (p.Gly328HisfsTer?) c.1363_1364del (p.Gly455HisfsTer?) c.1105_1106del (p.Gly369HisfsTer?) c.207_208del n.1636_1637del n.1603_1604del | ClinVar dbSNP |
19 | g.11113662G>A | CA404086362 | LDLR | c.1744G>A (p.Gly582Ser) c.1486G>A (p.Gly496Ser) c.1366G>A (p.Gly456Ser) c.1740G>A c.982G>A (p.Gly328Ser) c.1363G>A (p.Gly455Ser) c.1105G>A (p.Gly369Ser) c.207G>A n.1636G>A n.1603G>A | gnomAD v4 |
19 | g.11113662G>C | CA404086364 | LDLR | c.1744G>C (p.Gly582Arg) c.1486G>C (p.Gly496Arg) c.1366G>C (p.Gly456Arg) c.1740G>C c.982G>C (p.Gly328Arg) c.1363G>C (p.Gly455Arg) c.1105G>C (p.Gly369Arg) c.207G>C n.1636G>C n.1603G>C | |
19 | g.11113662G>T | CA404086367 | LDLR | c.1744G>T (p.Gly582Cys) c.1486G>T (p.Gly496Cys) c.1366G>T (p.Gly456Cys) c.1740G>T c.982G>T (p.Gly328Cys) c.1363G>T (p.Gly455Cys) c.1105G>T (p.Gly369Cys) c.207G>T n.1636G>T n.1603G>T | COSMIC |
19 | g.11113663G>A | CA404086372 | LDLR | c.1745G>A (p.Gly582Asp) c.1487G>A (p.Gly496Asp) c.1367G>A (p.Gly456Asp) c.1741G>A c.983G>A (p.Gly328Asp) c.1364G>A (p.Gly455Asp) c.1106G>A (p.Gly369Asp) c.208G>A n.1637G>A n.1604G>A | |
19 | g.11113663G>C | CA305300122 | LDLR | c.1745G>C (p.Gly582Ala) c.1487G>C (p.Gly496Ala) c.1367G>C (p.Gly456Ala) c.1741G>C c.983G>C (p.Gly328Ala) c.1364G>C (p.Gly455Ala) c.1106G>C (p.Gly369Ala) c.208G>C n.1637G>C n.1604G>C | dbSNP |
19 | g.11113663G= | CA2322771980 | LDLR | c.1745G= (p.Gly582=) c.1487G= (p.Gly496=) c.1367G= (p.Gly456=) c.1741G= c.983G= (p.Gly328=) c.1364G= (p.Gly455=) c.1106G= (p.Gly369=) c.208G= n.1637G= n.1604G= | |
19 | g.11113663G>T | CA10585477 | LDLR | c.1745G>T (p.Gly582Val) c.1487G>T (p.Gly496Val) c.1367G>T (p.Gly456Val) c.1741G>T c.983G>T (p.Gly328Val) c.1364G>T (p.Gly455Val) c.1106G>T (p.Gly369Val) c.208G>T n.1637G>T n.1604G>T | ClinVar dbSNP |
19 | g.11113664C>A | CA505743270 | LDLR | c.1746C>A (p.Gly582=) c.1488C>A (p.Gly496=) c.1368C>A (p.Gly456=) c.1742C>A c.984C>A (p.Gly328=) c.1365C>A (p.Gly455=) c.1107C>A (p.Gly369=) c.209C>A n.1638C>A n.1605C>A | dbSNP |
19 | g.11113664C= | CA2322771981 | LDLR | c.1746C= (p.Gly582=) c.1488C= (p.Gly496=) c.1368C= (p.Gly456=) c.1742C= c.984C= (p.Gly328=) c.1365C= (p.Gly455=) c.1107C= (p.Gly369=) c.209C= n.1638C= n.1605C= | |
19 | g.11113664C>G | CA505743271 | LDLR | c.1746C>G (p.Gly582=) c.1488C>G (p.Gly496=) c.1368C>G (p.Gly456=) c.1742C>G c.984C>G (p.Gly328=) c.1365C>G (p.Gly455=) c.1107C>G (p.Gly369=) c.209C>G n.1638C>G n.1605C>G | |
19 | g.11113664C>T | CA505743272 | LDLR | c.1746C>T (p.Gly582=) c.1488C>T (p.Gly496=) c.1368C>T (p.Gly456=) c.1742C>T c.984C>T (p.Gly328=) c.1365C>T (p.Gly455=) c.1107C>T (p.Gly369=) c.209C>T n.1638C>T n.1605C>T | dbSNP gnomAD v4 |
19 | g.11113665A= | CA2322771982 | LDLR | c.1747A= (p.Thr583=) c.1489A= (p.Thr497=) c.1369A= (p.Thr457=) c.1743A= c.985A= (p.Thr329=) c.1366A= (p.Thr456=) c.1108A= (p.Thr370=) c.210A= n.1639A= n.1606A= | |
19 | g.11113665A>C | CA10585478 | LDLR | c.1747A>C (p.Thr583Pro) c.1489A>C (p.Thr497Pro) c.1369A>C (p.Thr457Pro) c.1743A>C c.985A>C (p.Thr329Pro) c.1366A>C (p.Thr456Pro) c.1108A>C (p.Thr370Pro) c.210A>C n.1639A>C n.1606A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113665A>G | CA404086381 | LDLR | c.1747A>G (p.Thr583Ala) c.1489A>G (p.Thr497Ala) c.1369A>G (p.Thr457Ala) c.1743A>G c.985A>G (p.Thr329Ala) c.1366A>G (p.Thr456Ala) c.1108A>G (p.Thr370Ala) c.210A>G n.1639A>G n.1606A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113665A>T | CA404086382 | LDLR | c.1747A>T (p.Thr583Ser) c.1489A>T (p.Thr497Ser) c.1369A>T (p.Thr457Ser) c.1743A>T c.985A>T (p.Thr329Ser) c.1366A>T (p.Thr456Ser) c.1108A>T (p.Thr370Ser) c.210A>T n.1639A>T n.1606A>T | |
19 | g.11113665_11113666delinsAC | CA2322771983 | LDLR | c.1747_1748delinsAC (p.Thr583=) c.1489_1490delinsAC (p.Thr497=) c.1369_1370delinsAC (p.Thr457=) c.1743_1744delinsAC c.985_986delinsAC (p.Thr329=) c.1366_1367delinsAC (p.Thr456=) c.1108_1109delinsAC (p.Thr370=) c.210_211delinsAC n.1639_1640delinsAC n.1606_1607delinsAC | |
19 | g.11113666del | CA916081223 | LDLR | c.1748del (p.Thr583MetfsTer10) c.1490del (p.Thr497MetfsTer10) c.1370del (p.Thr457MetfsTer10) c.1744del c.986del (p.Thr329MetfsTer10) c.1367del (p.Thr456MetfsTer10) c.1109del (p.Thr370MetfsTer10) c.211del n.1640del n.1607del | ClinVar dbSNP |
19 | g.11113666C>A | CA404086384 | LDLR | c.1748C>A (p.Thr583Asn) c.1490C>A (p.Thr497Asn) c.1370C>A (p.Thr457Asn) c.1744C>A c.986C>A (p.Thr329Asn) c.1367C>A (p.Thr456Asn) c.1109C>A (p.Thr370Asn) c.211C>A n.1640C>A n.1607C>A | dbSNP |
19 | g.11113666C= | CA2322771984 | LDLR | c.1748C= (p.Thr583=) c.1490C= (p.Thr497=) c.1370C= (p.Thr457=) c.1744C= c.986C= (p.Thr329=) c.1367C= (p.Thr456=) c.1109C= (p.Thr370=) c.211C= n.1640C= n.1607C= | |
19 | g.11113666C>G | CA404086386 | LDLR | c.1748C>G (p.Thr583Ser) c.1490C>G (p.Thr497Ser) c.1370C>G (p.Thr457Ser) c.1744C>G c.986C>G (p.Thr329Ser) c.1367C>G (p.Thr456Ser) c.1109C>G (p.Thr370Ser) c.211C>G n.1640C>G n.1607C>G | |
19 | g.11113666C>T | CA404086389 | LDLR | c.1748C>T (p.Thr583Ile) c.1490C>T (p.Thr497Ile) c.1370C>T (p.Thr457Ile) c.1744C>T c.986C>T (p.Thr329Ile) c.1367C>T (p.Thr456Ile) c.1109C>T (p.Thr370Ile) c.211C>T n.1640C>T n.1607C>T | |
19 | g.11113666_11113668delinsCTG | CA2322771985 | LDLR | c.1748_1750delinsCTG (p.Thr583=) c.1490_1492delinsCTG (p.Thr497=) c.1370_1372delinsCTG (p.Thr457=) c.1744_1746delinsCTG c.986_988delinsCTG (p.Thr329=) c.1367_1369delinsCTG (p.Thr456=) c.1109_1111delinsCTG (p.Thr370=) c.211_213delinsCTG n.1640_1642delinsCTG n.1607_1609delinsCTG | |
19 | g.11113667del | CA2695228115 | LDLR | c.1749del (p.Val584SerfsTer9) c.1491del (p.Val498SerfsTer9) c.1371del (p.Val458SerfsTer9) c.1745del c.987del (p.Val330SerfsTer9) c.1368del (p.Val457SerfsTer9) c.1110del (p.Val371SerfsTer9) c.212del n.1641del n.1608del | |
19 | g.11113667T>A | CA505743273 | LDLR | c.1749T>A (p.Thr583=) c.1491T>A (p.Thr497=) c.1371T>A (p.Thr457=) c.1745T>A c.987T>A (p.Thr329=) c.1368T>A (p.Thr456=) c.1110T>A (p.Thr370=) c.212T>A n.1641T>A n.1608T>A | dbSNP |
19 | g.11113667T>C | CA034496 | LDLR | c.1749T>C (p.Thr583=) c.1491T>C (p.Thr497=) c.1371T>C (p.Thr457=) c.1745T>C c.987T>C (p.Thr329=) c.1368T>C (p.Thr456=) c.1110T>C (p.Thr370=) c.212T>C n.1641T>C n.1608T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113667T>G | CA505743274 | LDLR | c.1749T>G (p.Thr583=) c.1491T>G (p.Thr497=) c.1371T>G (p.Thr457=) c.1745T>G c.987T>G (p.Thr329=) c.1368T>G (p.Thr456=) c.1110T>G (p.Thr370=) c.212T>G n.1641T>G n.1608T>G | |
19 | g.11113667T= | CA2322771986 | LDLR | c.1749T= (p.Thr583=) c.1491T= (p.Thr497=) c.1371T= (p.Thr457=) c.1745T= c.987T= (p.Thr329=) c.1368T= (p.Thr456=) c.1110T= (p.Thr370=) c.212T= n.1641T= n.1608T= | |
19 | g.11113668_11113669del | CA1139666272 | LDLR | c.1750_1751del (p.Val584LeufsTer?) c.1492_1493del (p.Val498LeufsTer?) c.1372_1373del (p.Val458LeufsTer?) c.1746_1747del c.988_989del (p.Val330LeufsTer?) c.1369_1370del (p.Val457LeufsTer?) c.1111_1112del (p.Val371LeufsTer?) c.213_214del n.1642_1643del n.1609_1610del | ClinVar dbSNP |
19 | g.11113668G>A | CA034518 | LDLR | c.1750G>A (p.Val584Ile) c.1492G>A (p.Val498Ile) c.1372G>A (p.Val458Ile) c.1746G>A c.988G>A (p.Val330Ile) c.1369G>A (p.Val457Ile) c.1111G>A (p.Val371Ile) c.213G>A n.1642G>A n.1609G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113668G>C | CA404086398 | LDLR | c.1750G>C (p.Val584Leu) c.1492G>C (p.Val498Leu) c.1372G>C (p.Val458Leu) c.1746G>C c.988G>C (p.Val330Leu) c.1369G>C (p.Val457Leu) c.1111G>C (p.Val371Leu) c.213G>C n.1642G>C n.1609G>C | ClinVar |
19 | g.11113668G= | CA2322771987 | LDLR | c.1750G= (p.Val584=) c.1492G= (p.Val498=) c.1372G= (p.Val458=) c.1746G= c.988G= (p.Val330=) c.1369G= (p.Val457=) c.1111G= (p.Val371=) c.213G= n.1642G= n.1609G= | |
19 | g.11113668G>T | CA10585479 | LDLR | c.1750G>T (p.Val584Phe) c.1492G>T (p.Val498Phe) c.1372G>T (p.Val458Phe) c.1746G>T c.988G>T (p.Val330Phe) c.1369G>T (p.Val457Phe) c.1111G>T (p.Val371Phe) c.213G>T n.1642G>T n.1609G>T | ClinVar dbSNP |
19 | g.11113668_11113670delinsGTC | CA2322771988 | LDLR | c.1750_1752delinsGTC (p.Val584=) c.1492_1494delinsGTC (p.Val498=) c.1372_1374delinsGTC (p.Val458=) c.1746_1748delinsGTC c.988_990delinsGTC (p.Val330=) c.1369_1371delinsGTC (p.Val457=) c.1111_1113delinsGTC (p.Val371=) c.213_215delinsGTC n.1642_1644delinsGTC n.1609_1611delinsGTC | |
19 | g.11113669T>A | CA404086402 | LDLR | c.1751T>A (p.Val584Asp) c.1493T>A (p.Val498Asp) c.1373T>A (p.Val458Asp) c.1747T>A c.989T>A (p.Val330Asp) c.1370T>A (p.Val457Asp) c.1112T>A (p.Val371Asp) c.214T>A n.1643T>A n.1610T>A | |
19 | g.11113669T>C | CA404086407 | LDLR | c.1751T>C (p.Val584Ala) c.1493T>C (p.Val498Ala) c.1373T>C (p.Val458Ala) c.1747T>C c.989T>C (p.Val330Ala) c.1370T>C (p.Val457Ala) c.1112T>C (p.Val371Ala) c.214T>C n.1643T>C n.1610T>C | |
19 | g.11113669T>G | CA404086410 | LDLR | c.1751T>G (p.Val584Gly) c.1493T>G (p.Val498Gly) c.1373T>G (p.Val458Gly) c.1747T>G c.989T>G (p.Val330Gly) c.1370T>G (p.Val457Gly) c.1112T>G (p.Val371Gly) c.214T>G n.1643T>G n.1610T>G | |
19 | g.11113672_11113673del | CA10585481 | LDLR | c.1754_1755del (p.Ser585CysfsTer?) c.1496_1497del (p.Ser499CysfsTer?) c.1376_1377del (p.Ser459CysfsTer?) c.1750_1751del c.992_993del (p.Ser331CysfsTer?) c.1373_1374del (p.Ser458CysfsTer?) c.1115_1116del (p.Ser372CysfsTer?) c.217_218del n.1646_1647del n.1613_1614del | ClinVar dbSNP |
19 | g.11113670C>A | CA505743275 | LDLR | c.1752C>A (p.Val584=) c.1494C>A (p.Val498=) c.1374C>A (p.Val458=) c.1748C>A c.990C>A (p.Val330=) c.1371C>A (p.Val457=) c.1113C>A (p.Val371=) c.215C>A n.1644C>A n.1611C>A | |
19 | g.11113670C= | CA2322771989 | LDLR | c.1752C= (p.Val584=) c.1494C= (p.Val498=) c.1374C= (p.Val458=) c.1748C= c.990C= (p.Val330=) c.1371C= (p.Val457=) c.1113C= (p.Val371=) c.215C= n.1644C= n.1611C= | |
19 | g.11113670C>G | CA505743276 | LDLR | c.1752C>G (p.Val584=) c.1494C>G (p.Val498=) c.1374C>G (p.Val458=) c.1748C>G c.990C>G (p.Val330=) c.1371C>G (p.Val457=) c.1113C>G (p.Val371=) c.215C>G n.1644C>G n.1611C>G | ClinVar dbSNP |
19 | g.11113670C>T | CA305300126 | LDLR | c.1752C>T (p.Val584=) c.1494C>T (p.Val498=) c.1374C>T (p.Val458=) c.1748C>T c.990C>T (p.Val330=) c.1371C>T (p.Val457=) c.1113C>T (p.Val371=) c.215C>T n.1644C>T n.1611C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113671T>A | CA404086414 | LDLR | c.1753T>A (p.Ser585Thr) c.1495T>A (p.Ser499Thr) c.1375T>A (p.Ser459Thr) c.1749T>A c.991T>A (p.Ser331Thr) c.1372T>A (p.Ser458Thr) c.1114T>A (p.Ser372Thr) c.216T>A n.1645T>A n.1612T>A | |
19 | g.11113671T>C | CA10585480 | LDLR | c.1753T>C (p.Ser585Pro) c.1495T>C (p.Ser499Pro) c.1375T>C (p.Ser459Pro) c.1749T>C c.991T>C (p.Ser331Pro) c.1372T>C (p.Ser458Pro) c.1114T>C (p.Ser372Pro) c.216T>C n.1645T>C n.1612T>C | ClinVar dbSNP |
19 | g.11113671T>G | CA404086417 | LDLR | c.1753T>G (p.Ser585Ala) c.1495T>G (p.Ser499Ala) c.1375T>G (p.Ser459Ala) c.1749T>G c.991T>G (p.Ser331Ala) c.1372T>G (p.Ser458Ala) c.1114T>G (p.Ser372Ala) c.216T>G n.1645T>G n.1612T>G | |
19 | g.11113671T= | CA2322771990 | LDLR | c.1753T= (p.Ser585=) c.1495T= (p.Ser499=) c.1375T= (p.Ser459=) c.1749T= c.991T= (p.Ser331=) c.1372T= (p.Ser458=) c.1114T= (p.Ser372=) c.216T= n.1645T= n.1612T= | |
19 | g.11113672C>A | CA404086421 | LDLR | c.1754C>A (p.Ser585Tyr) c.1496C>A (p.Ser499Tyr) c.1376C>A (p.Ser459Tyr) c.1750C>A c.992C>A (p.Ser331Tyr) c.1373C>A (p.Ser458Tyr) c.1115C>A (p.Ser372Tyr) c.217C>A n.1646C>A n.1613C>A | |
19 | g.11113672C= | CA2322771991 | LDLR | c.1754C= (p.Ser585=) c.1496C= (p.Ser499=) c.1376C= (p.Ser459=) c.1750C= c.992C= (p.Ser331=) c.1373C= (p.Ser458=) c.1115C= (p.Ser372=) c.217C= n.1646C= n.1613C= | |
19 | g.11113672C>G | CA034538 | LDLR | c.1754C>G (p.Ser585Cys) c.1496C>G (p.Ser499Cys) c.1376C>G (p.Ser459Cys) c.1750C>G c.992C>G (p.Ser331Cys) c.1373C>G (p.Ser458Cys) c.1115C>G (p.Ser372Cys) c.217C>G n.1646C>G n.1613C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113672C>T | CA404086424 | LDLR | c.1754C>T (p.Ser585Phe) c.1496C>T (p.Ser499Phe) c.1376C>T (p.Ser459Phe) c.1750C>T c.992C>T (p.Ser331Phe) c.1373C>T (p.Ser458Phe) c.1115C>T (p.Ser372Phe) c.217C>T n.1646C>T n.1613C>T | |
19 | g.11113672_11113674delinsCTG | CA2322771992 | LDLR | c.1754_1756delinsCTG (p.Ser585=) c.1496_1498delinsCTG (p.Ser499=) c.1376_1378delinsCTG (p.Ser459=) c.1750_1752delinsCTG c.992_994delinsCTG (p.Ser331=) c.1373_1375delinsCTG (p.Ser458=) c.1115_1117delinsCTG (p.Ser372=) c.217_219delinsCTG n.1646_1648delinsCTG n.1613_1615delinsCTG | |
19 | g.11113673T>A | CA505743280 | LDLR | c.1755T>A (p.Ser585=) c.1497T>A (p.Ser499=) c.1377T>A (p.Ser459=) c.1751T>A c.993T>A (p.Ser331=) c.1374T>A (p.Ser458=) c.1116T>A (p.Ser372=) c.218T>A n.1647T>A n.1614T>A | |
19 | g.11113673T>C | CA034562 | LDLR | c.1755T>C (p.Ser585=) c.1497T>C (p.Ser499=) c.1377T>C (p.Ser459=) c.1751T>C c.993T>C (p.Ser331=) c.1374T>C (p.Ser458=) c.1116T>C (p.Ser372=) c.218T>C n.1647T>C n.1614T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113673T>G | CA505743279 | LDLR | c.1755T>G (p.Ser585=) c.1497T>G (p.Ser499=) c.1377T>G (p.Ser459=) c.1751T>G c.993T>G (p.Ser331=) c.1374T>G (p.Ser458=) c.1116T>G (p.Ser372=) c.218T>G n.1647T>G n.1614T>G | |
19 | g.11113673T= | CA2322771993 | LDLR | c.1755T= (p.Ser585=) c.1497T= (p.Ser499=) c.1377T= (p.Ser459=) c.1751T= c.993T= (p.Ser331=) c.1374T= (p.Ser458=) c.1116T= (p.Ser372=) c.218T= n.1647T= n.1614T= | |
19 | g.11113674_11113675del | CA10585482 | LDLR | c.1756_1757del (p.Val586CysfsTer?) c.1498_1499del (p.Val500CysfsTer?) c.1378_1379del (p.Val460CysfsTer?) c.1752_1753del c.994_995del (p.Val332CysfsTer?) c.1375_1376del (p.Val459CysfsTer?) c.1117_1118del (p.Val373CysfsTer?) c.219_220del n.1648_1649del n.1615_1616del | ClinVar dbSNP |
19 | g.11113674del | CA2695228116 | LDLR | c.1756del (p.Val586LeufsTer7) c.1498del (p.Val500LeufsTer7) c.1378del (p.Val460LeufsTer7) c.1752del c.994del (p.Val332LeufsTer7) c.1375del (p.Val459LeufsTer7) c.1117del (p.Val373LeufsTer7) c.219del n.1648del n.1615del | |
19 | g.11113674G>A | CA404086433 | LDLR | c.1756G>A (p.Val586Ile) c.1498G>A (p.Val500Ile) c.1378G>A (p.Val460Ile) c.1752G>A c.994G>A (p.Val332Ile) c.1375G>A (p.Val459Ile) c.1117G>A (p.Val373Ile) c.219G>A n.1648G>A n.1615G>A | |
19 | g.11113674G>C | CA404086440 | LDLR | c.1756G>C (p.Val586Leu) c.1498G>C (p.Val500Leu) c.1378G>C (p.Val460Leu) c.1752G>C c.994G>C (p.Val332Leu) c.1375G>C (p.Val459Leu) c.1117G>C (p.Val373Leu) c.219G>C n.1648G>C n.1615G>C | |
19 | g.11113674G>T | CA404086436 | LDLR | c.1756G>T (p.Val586Phe) c.1498G>T (p.Val500Phe) c.1378G>T (p.Val460Phe) c.1752G>T c.994G>T (p.Val332Phe) c.1375G>T (p.Val459Phe) c.1117G>T (p.Val373Phe) c.219G>T n.1648G>T n.1615G>T | |
19 | g.11113675T>A | CA404086443 | LDLR | c.1757T>A (p.Val586Asp) c.1499T>A (p.Val500Asp) c.1379T>A (p.Val460Asp) c.1753T>A c.995T>A (p.Val332Asp) c.1376T>A (p.Val459Asp) c.1118T>A (p.Val373Asp) c.220T>A n.1649T>A n.1616T>A | |
19 | g.11113675T>C | CA10588896 | LDLR | c.1757T>C (p.Val586Ala) c.1499T>C (p.Val500Ala) c.1379T>C (p.Val460Ala) c.1753T>C c.995T>C (p.Val332Ala) c.1376T>C (p.Val459Ala) c.1118T>C (p.Val373Ala) c.220T>C n.1649T>C n.1616T>C | ClinVar dbSNP |
19 | g.11113675T>G | CA404086447 | LDLR | c.1757T>G (p.Val586Gly) c.1499T>G (p.Val500Gly) c.1379T>G (p.Val460Gly) c.1753T>G c.995T>G (p.Val332Gly) c.1376T>G (p.Val459Gly) c.1118T>G (p.Val373Gly) c.220T>G n.1649T>G n.1616T>G | |
19 | g.11113675T= | CA2322771994 | LDLR | c.1757T= (p.Val586=) c.1499T= (p.Val500=) c.1379T= (p.Val460=) c.1753T= c.995T= (p.Val332=) c.1376T= (p.Val459=) c.1118T= (p.Val373=) c.220T= n.1649T= n.1616T= | |
19 | g.11113676T>A | CA505743283 | LDLR | c.1758T>A (p.Val586=) c.1500T>A (p.Val500=) c.1380T>A (p.Val460=) c.1754T>A c.996T>A (p.Val332=) c.1377T>A (p.Val459=) c.1119T>A (p.Val373=) c.221T>A n.1650T>A n.1617T>A | gnomAD v4 |
19 | g.11113676T>C | CA505743281 | LDLR | c.1758T>C (p.Val586=) c.1500T>C (p.Val500=) c.1380T>C (p.Val460=) c.1754T>C c.996T>C (p.Val332=) c.1377T>C (p.Val459=) c.1119T>C (p.Val373=) c.221T>C n.1650T>C n.1617T>C | |
19 | g.11113676T>G | CA505743282 | LDLR | c.1758T>G (p.Val586=) c.1500T>G (p.Val500=) c.1380T>G (p.Val460=) c.1754T>G c.996T>G (p.Val332=) c.1377T>G (p.Val459=) c.1119T>G (p.Val373=) c.221T>G n.1650T>G n.1617T>G | |
19 | g.11113677G>A | CA404086451 | LDLR | c.1759G>A (p.Ala587Thr) c.1501G>A (p.Ala501Thr) c.1381G>A (p.Ala461Thr) c.1755G>A c.997G>A (p.Ala333Thr) c.1378G>A (p.Ala460Thr) c.1120G>A (p.Ala374Thr) c.222G>A n.1651G>A n.1618G>A | ClinVar dbSNP |
19 | g.11113677G>C | CA404086457 | LDLR | c.1759G>C (p.Ala587Pro) c.1501G>C (p.Ala501Pro) c.1381G>C (p.Ala461Pro) c.1755G>C c.997G>C (p.Ala333Pro) c.1378G>C (p.Ala460Pro) c.1120G>C (p.Ala374Pro) c.222G>C n.1651G>C n.1618G>C | |
19 | g.11113677G= | CA2322771995 | LDLR | c.1759G= (p.Ala587=) c.1501G= (p.Ala501=) c.1381G= (p.Ala461=) c.1755G= c.997G= (p.Ala333=) c.1378G= (p.Ala460=) c.1120G= (p.Ala374=) c.222G= n.1651G= n.1618G= | |
19 | g.11113677G>T | CA404086454 | LDLR | c.1759G>T (p.Ala587Ser) c.1501G>T (p.Ala501Ser) c.1381G>T (p.Ala461Ser) c.1755G>T c.997G>T (p.Ala333Ser) c.1378G>T (p.Ala460Ser) c.1120G>T (p.Ala374Ser) c.222G>T n.1651G>T n.1618G>T | gnomAD v4 |
19 | g.11113677_11113678delinsAG | CA2837994631 | LDLR | c.1759_1760delinsAG (p.Ala587Arg) c.1501_1502delinsAG (p.Ala501Arg) c.1381_1382delinsAG (p.Ala461Arg) c.1755_1756delinsAG c.997_998delinsAG (p.Ala333Arg) c.1378_1379delinsAG (p.Ala460Arg) c.1120_1121delinsAG (p.Ala374Arg) c.222_223delinsAG n.1651_1652delinsAG n.1618_1619delinsAG | |
19 | g.11113678C>A | CA10585483 | LDLR | c.1760C>A (p.Ala587Glu) c.1502C>A (p.Ala501Glu) c.1382C>A (p.Ala461Glu) c.1756C>A c.998C>A (p.Ala333Glu) c.1379C>A (p.Ala460Glu) c.1121C>A (p.Ala374Glu) c.223C>A n.1652C>A n.1619C>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11113678C= | CA2322771996 | LDLR | c.1760C= (p.Ala587=) c.1502C= (p.Ala501=) c.1382C= (p.Ala461=) c.1756C= c.998C= (p.Ala333=) c.1379C= (p.Ala460=) c.1121C= (p.Ala374=) c.223C= n.1652C= n.1619C= | |
19 | g.11113678C>G | CA404086462 | LDLR | c.1760C>G (p.Ala587Gly) c.1502C>G (p.Ala501Gly) c.1382C>G (p.Ala461Gly) c.1756C>G c.998C>G (p.Ala333Gly) c.1379C>G (p.Ala460Gly) c.1121C>G (p.Ala374Gly) c.223C>G n.1652C>G n.1619C>G | ClinVar dbSNP |
19 | g.11113678C>T | CA034573 | LDLR | c.1760C>T (p.Ala587Val) c.1502C>T (p.Ala501Val) c.1382C>T (p.Ala461Val) c.1756C>T c.998C>T (p.Ala333Val) c.1379C>T (p.Ala460Val) c.1121C>T (p.Ala374Val) c.223C>T n.1652C>T n.1619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11113678dup | CA10585484 | LDLR | c.1760dup (p.Asp588GlyfsTer?) c.1502dup (p.Asp502GlyfsTer?) c.1382dup (p.Asp462GlyfsTer?) c.1756dup c.998dup (p.Asp334GlyfsTer?) c.1379dup (p.Asp461GlyfsTer?) c.1121dup (p.Asp375GlyfsTer?) c.223dup n.1652dup n.1619dup | ClinVar dbSNP |
19 | g.11113679G>A | CA034586 | LDLR | c.1761G>A (p.Ala587=) c.1503G>A (p.Ala501=) c.1383G>A (p.Ala461=) c.1757G>A c.999G>A (p.Ala333=) c.1380G>A (p.Ala460=) c.1122G>A (p.Ala374=) c.224G>A n.1653G>A n.1620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113679G>C | CA505743285 | LDLR | c.1761G>C (p.Ala587=) c.1503G>C (p.Ala501=) c.1383G>C (p.Ala461=) c.1757G>C c.999G>C (p.Ala333=) c.1380G>C (p.Ala460=) c.1122G>C (p.Ala374=) c.224G>C n.1653G>C n.1620G>C | ClinVar dbSNP |
19 | g.11113679G= | CA2322771997 | LDLR | c.1761G= (p.Ala587=) c.1503G= (p.Ala501=) c.1383G= (p.Ala461=) c.1757G= c.999G= (p.Ala333=) c.1380G= (p.Ala460=) c.1122G= (p.Ala374=) c.224G= n.1653G= n.1620G= | |
19 | g.11113679G>T | CA505743284 | LDLR | c.1761G>T (p.Ala587=) c.1503G>T (p.Ala501=) c.1383G>T (p.Ala461=) c.1757G>T c.999G>T (p.Ala333=) c.1380G>T (p.Ala460=) c.1122G>T (p.Ala374=) c.224G>T n.1653G>T n.1620G>T | |
19 | g.11113679_11113680dup | CA2499225320 | LDLR | c.1761_1762dup (p.Asp588GlyfsTer6) c.1503_1504dup (p.Asp502GlyfsTer6) c.1383_1384dup (p.Asp462GlyfsTer6) c.1757_1758dup c.999_1000dup (p.Asp334GlyfsTer6) c.1380_1381dup (p.Asp461GlyfsTer6) c.1122_1123dup (p.Asp375GlyfsTer6) c.224_225dup n.1653_1654dup n.1620_1621dup | ClinVar dbSNP |
19 | g.11113680G>A | CA404086468 | LDLR | c.1762G>A (p.Asp588Asn) c.1504G>A (p.Asp502Asn) c.1384G>A (p.Asp462Asn) c.1758G>A c.1000G>A (p.Asp334Asn) c.1381G>A (p.Asp461Asn) c.1123G>A (p.Asp375Asn) c.225G>A n.1654G>A n.1621G>A | |
19 | g.11113680G>C | CA404086470 | LDLR | c.1762G>C (p.Asp588His) c.1504G>C (p.Asp502His) c.1384G>C (p.Asp462His) c.1758G>C c.1000G>C (p.Asp334His) c.1381G>C (p.Asp461His) c.1123G>C (p.Asp375His) c.225G>C n.1654G>C n.1621G>C | |
19 | g.11113680G= | CA2322771998 | LDLR | c.1762G= (p.Asp588=) c.1504G= (p.Asp502=) c.1384G= (p.Asp462=) c.1758G= c.1000G= (p.Asp334=) c.1381G= (p.Asp461=) c.1123G= (p.Asp375=) c.225G= n.1654G= n.1621G= | |
19 | g.11113680G>T | CA10585485 | LDLR | c.1762G>T (p.Asp588Tyr) c.1504G>T (p.Asp502Tyr) c.1384G>T (p.Asp462Tyr) c.1758G>T c.1000G>T (p.Asp334Tyr) c.1381G>T (p.Asp461Tyr) c.1123G>T (p.Asp375Tyr) c.225G>T n.1654G>T n.1621G>T | ClinVar dbSNP |
19 | g.11113681A>C | CA404086474 | LDLR | c.1763A>C (p.Asp588Ala) c.1505A>C (p.Asp502Ala) c.1385A>C (p.Asp462Ala) c.1759A>C c.1001A>C (p.Asp334Ala) c.1382A>C (p.Asp461Ala) c.1124A>C (p.Asp375Ala) c.226A>C n.1655A>C n.1622A>C | |
19 | g.11113681A>G | CA404086476 | LDLR | c.1763A>G (p.Asp588Gly) c.1505A>G (p.Asp502Gly) c.1385A>G (p.Asp462Gly) c.1759A>G c.1001A>G (p.Asp334Gly) c.1382A>G (p.Asp461Gly) c.1124A>G (p.Asp375Gly) c.226A>G n.1655A>G n.1622A>G | |
19 | g.11113681A>T | CA404086477 | LDLR | c.1763A>T (p.Asp588Val) c.1505A>T (p.Asp502Val) c.1385A>T (p.Asp462Val) c.1759A>T c.1001A>T (p.Asp334Val) c.1382A>T (p.Asp461Val) c.1124A>T (p.Asp375Val) c.226A>T n.1655A>T n.1622A>T | |
19 | g.11113682T>A | CA404086478 | LDLR | c.1764T>A (p.Asp588Glu) c.1506T>A (p.Asp502Glu) c.1386T>A (p.Asp462Glu) c.1760T>A c.1002T>A (p.Asp334Glu) c.1383T>A (p.Asp461Glu) c.1125T>A (p.Asp375Glu) c.227T>A n.1656T>A n.1623T>A | |
19 | g.11113682T>C | CA505743286 | LDLR | c.1764T>C (p.Asp588=) c.1506T>C (p.Asp502=) c.1386T>C (p.Asp462=) c.1760T>C c.1002T>C (p.Asp334=) c.1383T>C (p.Asp461=) c.1125T>C (p.Asp375=) c.227T>C n.1656T>C n.1623T>C | ClinVar dbSNP |
19 | g.11113682T>G | CA404086479 | LDLR | c.1764T>G (p.Asp588Glu) c.1506T>G (p.Asp502Glu) c.1386T>G (p.Asp462Glu) c.1760T>G c.1002T>G (p.Asp334Glu) c.1383T>G (p.Asp461Glu) c.1125T>G (p.Asp375Glu) c.227T>G n.1656T>G n.1623T>G | |
19 | g.11113682T= | CA2322771999 | LDLR | c.1764T= (p.Asp588=) c.1506T= (p.Asp502=) c.1386T= (p.Asp462=) c.1760T= c.1002T= (p.Asp334=) c.1383T= (p.Asp461=) c.1125T= (p.Asp375=) c.227T= n.1656T= n.1623T= | |
19 | g.11113683A>C | CA404086482 | LDLR | c.1765A>C (p.Thr589Pro) c.1507A>C (p.Thr503Pro) c.1387A>C (p.Thr463Pro) c.1761A>C c.1003A>C (p.Thr335Pro) c.1384A>C (p.Thr462Pro) c.1126A>C (p.Thr376Pro) c.228A>C n.1657A>C n.1624A>C | |
19 | g.11113683A>G | CA404086480 | LDLR | c.1765A>G (p.Thr589Ala) c.1507A>G (p.Thr503Ala) c.1387A>G (p.Thr463Ala) c.1761A>G c.1003A>G (p.Thr335Ala) c.1384A>G (p.Thr462Ala) c.1126A>G (p.Thr376Ala) c.228A>G n.1657A>G n.1624A>G | |
19 | g.11113683A>T | CA404086481 | LDLR | c.1765A>T (p.Thr589Ser) c.1507A>T (p.Thr503Ser) c.1387A>T (p.Thr463Ser) c.1761A>T c.1003A>T (p.Thr335Ser) c.1384A>T (p.Thr462Ser) c.1126A>T (p.Thr376Ser) c.228A>T n.1657A>T n.1624A>T | |
19 | g.11113683_11113730delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG | CA2322772000 | LDLR | c.1765_1812delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr589=) c.1507_1554delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr503=) c.1387_1434delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr463=) c.1761_1808delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG c.1003_1050delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr335=) c.1384_1431delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr462=) c.1126_1173delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr376=) c.228_275delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG n.1657_1704delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG n.1624_1671delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG | |
19 | g.11113684C>A | CA305300130 | LDLR | c.1766C>A (p.Thr589Asn) c.1508C>A (p.Thr503Asn) c.1388C>A (p.Thr463Asn) c.1762C>A c.1004C>A (p.Thr335Asn) c.1385C>A (p.Thr462Asn) c.1127C>A (p.Thr376Asn) c.229C>A n.1658C>A n.1625C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113684C= | CA2322772001 | LDLR | c.1766C= (p.Thr589=) c.1508C= (p.Thr503=) c.1388C= (p.Thr463=) c.1762C= c.1004C= (p.Thr335=) c.1385C= (p.Thr462=) c.1127C= (p.Thr376=) c.229C= n.1658C= n.1625C= | |
19 | g.11113684C>G | CA404086484 | LDLR | c.1766C>G (p.Thr589Ser) c.1508C>G (p.Thr503Ser) c.1388C>G (p.Thr463Ser) c.1762C>G c.1004C>G (p.Thr335Ser) c.1385C>G (p.Thr462Ser) c.1127C>G (p.Thr376Ser) c.229C>G n.1658C>G n.1625C>G | |
19 | g.11113684C>T | CA404086483 | LDLR | c.1766C>T (p.Thr589Ile) c.1508C>T (p.Thr503Ile) c.1388C>T (p.Thr463Ile) c.1762C>T c.1004C>T (p.Thr335Ile) c.1385C>T (p.Thr462Ile) c.1127C>T (p.Thr376Ile) c.229C>T n.1658C>T n.1625C>T | |
19 | g.11113692_11113738del | CA10585488 | LDLR | c.1774_1820del (p.Val592HisfsTer14) c.1516_1562del (p.Val506HisfsTer14) c.1396_1442del (p.Val466HisfsTer14) c.1770_1816del c.1012_1058del (p.Val338HisfsTer14) c.1393_1439del (p.Val465HisfsTer14) c.1135_1181del (p.Val379HisfsTer14) c.237_283del n.1666_1712del n.1633_1679del | ClinVar dbSNP |
19 | g.11113685C>A | CA034597 | LDLR | c.1767C>A (p.Thr589=) c.1509C>A (p.Thr503=) c.1389C>A (p.Thr463=) c.1763C>A c.1005C>A (p.Thr335=) c.1386C>A (p.Thr462=) c.1128C>A (p.Thr376=) c.230C>A n.1659C>A n.1626C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113685C= | CA2322772002 | LDLR | c.1767C= (p.Thr589=) c.1509C= (p.Thr503=) c.1389C= (p.Thr463=) c.1763C= c.1005C= (p.Thr335=) c.1386C= (p.Thr462=) c.1128C= (p.Thr376=) c.230C= n.1659C= n.1626C= | |
19 | g.11113685C>G | CA505743288 | LDLR | c.1767C>G (p.Thr589=) c.1509C>G (p.Thr503=) c.1389C>G (p.Thr463=) c.1763C>G c.1005C>G (p.Thr335=) c.1386C>G (p.Thr462=) c.1128C>G (p.Thr376=) c.230C>G n.1659C>G n.1626C>G | |
19 | g.11113685C>T | CA505743287 | LDLR | c.1767C>T (p.Thr589=) c.1509C>T (p.Thr503=) c.1389C>T (p.Thr463=) c.1763C>T c.1005C>T (p.Thr335=) c.1386C>T (p.Thr462=) c.1128C>T (p.Thr376=) c.230C>T n.1659C>T n.1626C>T | |
19 | g.11113686A= | CA2322772003 | LDLR | c.1768A= (p.Lys590=) c.1510A= (p.Lys504=) c.1390A= (p.Lys464=) c.1764A= c.1006A= (p.Lys336=) c.1387A= (p.Lys463=) c.1129A= (p.Lys377=) c.231A= n.1660A= n.1627A= | |
19 | g.11113686A>C | CA404086485 | LDLR | c.1768A>C (p.Lys590Gln) c.1510A>C (p.Lys504Gln) c.1390A>C (p.Lys464Gln) c.1764A>C c.1006A>C (p.Lys336Gln) c.1387A>C (p.Lys463Gln) c.1129A>C (p.Lys377Gln) c.231A>C n.1660A>C n.1627A>C | |
19 | g.11113686A>G | CA023518 | LDLR | c.1768A>G (p.Lys590Glu) c.1510A>G (p.Lys504Glu) c.1390A>G (p.Lys464Glu) c.1764A>G c.1006A>G (p.Lys336Glu) c.1387A>G (p.Lys463Glu) c.1129A>G (p.Lys377Glu) c.231A>G n.1660A>G n.1627A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113686A>T | CA10585486 | LDLR | c.1768A>T (p.Lys590Ter) c.1510A>T (p.Lys504Ter) c.1390A>T (p.Lys464Ter) c.1764A>T c.1006A>T (p.Lys336Ter) c.1387A>T (p.Lys463Ter) c.1129A>T (p.Lys377Ter) c.231A>T n.1660A>T n.1627A>T | ClinVar dbSNP |
19 | g.11113687A>C | CA404086486 | LDLR | c.1769A>C (p.Lys590Thr) c.1511A>C (p.Lys504Thr) c.1391A>C (p.Lys464Thr) c.1765A>C c.1007A>C (p.Lys336Thr) c.1388A>C (p.Lys463Thr) c.1130A>C (p.Lys377Thr) c.232A>C n.1661A>C n.1628A>C | |
19 | g.11113687A>G | CA404086487 | LDLR | c.1769A>G (p.Lys590Arg) c.1511A>G (p.Lys504Arg) c.1391A>G (p.Lys464Arg) c.1765A>G c.1007A>G (p.Lys336Arg) c.1388A>G (p.Lys463Arg) c.1130A>G (p.Lys377Arg) c.232A>G n.1661A>G n.1628A>G | COSMIC |
19 | g.11113687A>T | CA404086488 | LDLR | c.1769A>T (p.Lys590Met) c.1511A>T (p.Lys504Met) c.1391A>T (p.Lys464Met) c.1765A>T c.1007A>T (p.Lys336Met) c.1388A>T (p.Lys463Met) c.1130A>T (p.Lys377Met) c.232A>T n.1661A>T n.1628A>T | |
19 | g.11113688G>A | CA505743289 | LDLR | c.1770G>A (p.Lys590=) c.1512G>A (p.Lys504=) c.1392G>A (p.Lys464=) c.1766G>A c.1008G>A (p.Lys336=) c.1389G>A (p.Lys463=) c.1131G>A (p.Lys377=) c.233G>A n.1662G>A n.1629G>A | |
19 | g.11113688G>C | CA404086489 | LDLR | c.1770G>C (p.Lys590Asn) c.1512G>C (p.Lys504Asn) c.1392G>C (p.Lys464Asn) c.1766G>C c.1008G>C (p.Lys336Asn) c.1389G>C (p.Lys463Asn) c.1131G>C (p.Lys377Asn) c.233G>C n.1662G>C n.1629G>C | |
19 | g.11113688G= | CA2322772004 | LDLR | c.1770G= (p.Lys590=) c.1512G= (p.Lys504=) c.1392G= (p.Lys464=) c.1766G= c.1008G= (p.Lys336=) c.1389G= (p.Lys463=) c.1131G= (p.Lys377=) c.233G= n.1662G= n.1629G= | |
19 | g.11113688G>T | CA404086490 | LDLR | c.1770G>T (p.Lys590Asn) c.1512G>T (p.Lys504Asn) c.1392G>T (p.Lys464Asn) c.1766G>T c.1008G>T (p.Lys336Asn) c.1389G>T (p.Lys463Asn) c.1131G>T (p.Lys377Asn) c.233G>T n.1662G>T n.1629G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113689G>A | CA404086491 | LDLR | c.1771G>A (p.Gly591Ser) c.1513G>A (p.Gly505Ser) c.1393G>A (p.Gly465Ser) c.1767G>A c.1009G>A (p.Gly337Ser) c.1390G>A (p.Gly464Ser) c.1132G>A (p.Gly378Ser) c.234G>A n.1663G>A n.1630G>A | |
19 | g.11113689G>C | CA404086492 | LDLR | c.1771G>C (p.Gly591Arg) c.1513G>C (p.Gly505Arg) c.1393G>C (p.Gly465Arg) c.1767G>C c.1009G>C (p.Gly337Arg) c.1390G>C (p.Gly464Arg) c.1132G>C (p.Gly378Arg) c.234G>C n.1663G>C n.1630G>C | |
19 | g.11113689G>T | CA404086493 | LDLR | c.1771G>T (p.Gly591Cys) c.1513G>T (p.Gly505Cys) c.1393G>T (p.Gly465Cys) c.1767G>T c.1009G>T (p.Gly337Cys) c.1390G>T (p.Gly464Cys) c.1132G>T (p.Gly378Cys) c.234G>T n.1663G>T n.1630G>T | |
19 | g.11113690G>A | CA10585487 | LDLR | c.1772G>A (p.Gly591Asp) c.1514G>A (p.Gly505Asp) c.1394G>A (p.Gly465Asp) c.1768G>A c.1010G>A (p.Gly337Asp) c.1391G>A (p.Gly464Asp) c.1133G>A (p.Gly378Asp) c.235G>A n.1664G>A n.1631G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113690G>C | CA404086495 | LDLR | c.1772G>C (p.Gly591Ala) c.1514G>C (p.Gly505Ala) c.1394G>C (p.Gly465Ala) c.1768G>C c.1010G>C (p.Gly337Ala) c.1391G>C (p.Gly464Ala) c.1133G>C (p.Gly378Ala) c.235G>C n.1664G>C n.1631G>C | ClinVar COSMIC |
19 | g.11113690G= | CA2322772005 | LDLR | c.1772G= (p.Gly591=) c.1514G= (p.Gly505=) c.1394G= (p.Gly465=) c.1768G= c.1010G= (p.Gly337=) c.1391G= (p.Gly464=) c.1133G= (p.Gly378=) c.235G= n.1664G= n.1631G= | |
19 | g.11113690G>T | CA404086494 | LDLR | c.1772G>T (p.Gly591Val) c.1514G>T (p.Gly505Val) c.1394G>T (p.Gly465Val) c.1768G>T c.1010G>T (p.Gly337Val) c.1391G>T (p.Gly464Val) c.1133G>T (p.Gly378Val) c.235G>T n.1664G>T n.1631G>T | |
19 | g.11113691C>A | CA505743290 | LDLR | c.1773C>A (p.Gly591=) c.1515C>A (p.Gly505=) c.1395C>A (p.Gly465=) c.1769C>A c.1011C>A (p.Gly337=) c.1392C>A (p.Gly464=) c.1134C>A (p.Gly378=) c.236C>A n.1665C>A n.1632C>A | dbSNP |
19 | g.11113691C= | CA2322772006 | LDLR | c.1773C= (p.Gly591=) c.1515C= (p.Gly505=) c.1395C= (p.Gly465=) c.1769C= c.1011C= (p.Gly337=) c.1392C= (p.Gly464=) c.1134C= (p.Gly378=) c.236C= n.1665C= n.1632C= | |
19 | g.11113691C>G | CA505743291 | LDLR | c.1773C>G (p.Gly591=) c.1515C>G (p.Gly505=) c.1395C>G (p.Gly465=) c.1769C>G c.1011C>G (p.Gly337=) c.1392C>G (p.Gly464=) c.1134C>G (p.Gly378=) c.236C>G n.1665C>G n.1632C>G | |
19 | g.11113691C>T | CA034626 | LDLR | c.1773C>T (p.Gly591=) c.1515C>T (p.Gly505=) c.1395C>T (p.Gly465=) c.1769C>T c.1011C>T (p.Gly337=) c.1392C>T (p.Gly464=) c.1134C>T (p.Gly378=) c.236C>T n.1665C>T n.1632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113692_11113739del | CA2497030067 | LDLR | c.1774_1821del (p.Val592_Ala607del) c.1516_1563del (p.Val506_Ala521del) c.1396_1443del (p.Val466_Ala481del) c.1770_1817del c.1012_1059del (p.Val338_Ala353del) c.1393_1440del (p.Val465_Ala480del) c.1135_1182del (p.Val379_Ala394del) c.237_284del n.1666_1713del n.1633_1680del | |
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.11113692G>A | CA034649 | LDLR | c.1774G>A (p.Val592Met) c.1516G>A (p.Val506Met) c.1396G>A (p.Val466Met) c.1770G>A c.1012G>A (p.Val338Met) c.1393G>A (p.Val465Met) c.1135G>A (p.Val379Met) c.237G>A n.1666G>A n.1633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113692G>C | CA404086496 | LDLR | c.1774G>C (p.Val592Leu) c.1516G>C (p.Val506Leu) c.1396G>C (p.Val466Leu) c.1770G>C c.1012G>C (p.Val338Leu) c.1393G>C (p.Val465Leu) c.1135G>C (p.Val379Leu) c.237G>C n.1666G>C n.1633G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113692G= | CA2322772007 | LDLR | c.1774G= (p.Val592=) c.1516G= (p.Val506=) c.1396G= (p.Val466=) c.1770G= c.1012G= (p.Val338=) c.1393G= (p.Val465=) c.1135G= (p.Val379=) c.237G= n.1666G= n.1633G= | |
19 | g.11113692G>T | CA404086497 | LDLR | c.1774G>T (p.Val592Leu) c.1516G>T (p.Val506Leu) c.1396G>T (p.Val466Leu) c.1770G>T c.1012G>T (p.Val338Leu) c.1393G>T (p.Val465Leu) c.1135G>T (p.Val379Leu) c.237G>T n.1666G>T n.1633G>T | |
19 | g.11113692dup | CA2499225321 | LDLR | c.1774dup (p.Val592GlyfsTer30) c.1516dup (p.Val506GlyfsTer30) c.1396dup (p.Val466GlyfsTer30) c.1770dup c.1012dup (p.Val338GlyfsTer30) c.1393dup (p.Val465GlyfsTer30) c.1135dup (p.Val379GlyfsTer30) c.237dup n.1666dup n.1633dup | ClinVar dbSNP |
19 | g.11113693T>A | CA404086498 | LDLR | c.1775T>A (p.Val592Glu) c.1517T>A (p.Val506Glu) c.1397T>A (p.Val466Glu) c.1771T>A c.1013T>A (p.Val338Glu) c.1394T>A (p.Val465Glu) c.1136T>A (p.Val379Glu) c.238T>A n.1667T>A n.1634T>A | |
19 | g.11113693T>C | CA404086499 | LDLR | c.1775T>C (p.Val592Ala) c.1517T>C (p.Val506Ala) c.1397T>C (p.Val466Ala) c.1771T>C c.1013T>C (p.Val338Ala) c.1394T>C (p.Val465Ala) c.1136T>C (p.Val379Ala) c.238T>C n.1667T>C n.1634T>C | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11113693T>G | CA404086500 | LDLR | c.1775T>G (p.Val592Gly) c.1517T>G (p.Val506Gly) c.1397T>G (p.Val466Gly) c.1771T>G c.1013T>G (p.Val338Gly) c.1394T>G (p.Val465Gly) c.1136T>G (p.Val379Gly) c.238T>G n.1667T>G n.1634T>G | dbSNP |
19 | g.11113693T= | CA2322772008 | LDLR | c.1775T= (p.Val592=) c.1517T= (p.Val506=) c.1397T= (p.Val466=) c.1771T= c.1013T= (p.Val338=) c.1394T= (p.Val465=) c.1136T= (p.Val379=) c.238T= n.1667T= n.1634T= | |
19 | g.11113694G>A | CA505743292 | LDLR | c.1776G>A (p.Val592=) c.1518G>A (p.Val506=) c.1398G>A (p.Val466=) c.1772G>A c.1014G>A (p.Val338=) c.1395G>A (p.Val465=) c.1137G>A (p.Val379=) c.239G>A n.1668G>A n.1635G>A | ClinVar |
19 | g.11113694G>C | CA505743293 | LDLR | c.1776G>C (p.Val592=) c.1518G>C (p.Val506=) c.1398G>C (p.Val466=) c.1772G>C c.1014G>C (p.Val338=) c.1395G>C (p.Val465=) c.1137G>C (p.Val379=) c.239G>C n.1668G>C n.1635G>C | |
19 | g.11113694G>T | CA505743294 | LDLR | c.1776G>T (p.Val592=) c.1518G>T (p.Val506=) c.1398G>T (p.Val466=) c.1772G>T c.1014G>T (p.Val338=) c.1395G>T (p.Val465=) c.1137G>T (p.Val379=) c.239G>T n.1668G>T n.1635G>T | |
19 | g.11113695A= | CA2322772009 | LDLR | c.1777A= (p.Lys593=) c.1519A= (p.Lys507=) c.1399A= (p.Lys467=) c.1773A= c.1015A= (p.Lys339=) c.1396A= (p.Lys466=) c.1138A= (p.Lys380=) c.240A= n.1669A= n.1636A= | |
19 | g.11113695A>C | CA404086501 | LDLR | c.1777A>C (p.Lys593Gln) c.1519A>C (p.Lys507Gln) c.1399A>C (p.Lys467Gln) c.1773A>C c.1015A>C (p.Lys339Gln) c.1396A>C (p.Lys466Gln) c.1138A>C (p.Lys380Gln) c.240A>C n.1669A>C n.1636A>C | |
19 | g.11113695A>G | CA10585489 | LDLR | c.1777A>G (p.Lys593Glu) c.1519A>G (p.Lys507Glu) c.1399A>G (p.Lys467Glu) c.1773A>G c.1015A>G (p.Lys339Glu) c.1396A>G (p.Lys466Glu) c.1138A>G (p.Lys380Glu) c.240A>G n.1669A>G n.1636A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113695A>T | CA404086502 | LDLR | c.1777A>T (p.Lys593Ter) c.1519A>T (p.Lys507Ter) c.1399A>T (p.Lys467Ter) c.1773A>T c.1015A>T (p.Lys339Ter) c.1396A>T (p.Lys466Ter) c.1138A>T (p.Lys380Ter) c.240A>T n.1669A>T n.1636A>T | |
19 | g.11113696del | CA2695238663 | LDLR | c.1778del (p.Lys593ArgfsTer?) c.1520del (p.Lys507ArgfsTer?) c.1400del (p.Lys467ArgfsTer?) c.1774del c.1016del (p.Lys339ArgfsTer?) c.1397del (p.Lys466ArgfsTer?) c.1139del (p.Lys380ArgfsTer?) c.241del n.1670del n.1637del | |
19 | g.11113696A= | CA2322772010 | LDLR | c.1778A= (p.Lys593=) c.1520A= (p.Lys507=) c.1400A= (p.Lys467=) c.1774A= c.1016A= (p.Lys339=) c.1397A= (p.Lys466=) c.1139A= (p.Lys380=) c.241A= n.1670A= n.1637A= | |
19 | g.11113696A>C | CA10585490 | LDLR | c.1778A>C (p.Lys593Thr) c.1520A>C (p.Lys507Thr) c.1400A>C (p.Lys467Thr) c.1774A>C c.1016A>C (p.Lys339Thr) c.1397A>C (p.Lys466Thr) c.1139A>C (p.Lys380Thr) c.241A>C n.1670A>C n.1637A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11113696A>G | CA404086503 | LDLR | c.1778A>G (p.Lys593Arg) c.1520A>G (p.Lys507Arg) c.1400A>G (p.Lys467Arg) c.1774A>G c.1016A>G (p.Lys339Arg) c.1397A>G (p.Lys466Arg) c.1139A>G (p.Lys380Arg) c.241A>G n.1670A>G n.1637A>G | |
19 | g.11113696A>T | CA404086504 | LDLR | c.1778A>T (p.Lys593Met) c.1520A>T (p.Lys507Met) c.1400A>T (p.Lys467Met) c.1774A>T c.1016A>T (p.Lys339Met) c.1397A>T (p.Lys466Met) c.1139A>T (p.Lys380Met) c.241A>T n.1670A>T n.1637A>T | |
19 | g.11113697G>A | CA505743295 | LDLR | c.1779G>A (p.Lys593=) c.1521G>A (p.Lys507=) c.1401G>A (p.Lys467=) c.1775G>A c.1017G>A (p.Lys339=) c.1398G>A (p.Lys466=) c.1140G>A (p.Lys380=) c.242G>A n.1671G>A n.1638G>A | |
19 | g.11113697G>C | CA404086505 | LDLR | c.1779G>C (p.Lys593Asn) c.1521G>C (p.Lys507Asn) c.1401G>C (p.Lys467Asn) c.1775G>C c.1017G>C (p.Lys339Asn) c.1398G>C (p.Lys466Asn) c.1140G>C (p.Lys380Asn) c.242G>C n.1671G>C n.1638G>C | ClinVar dbSNP |
19 | g.11113697G= | CA2322772012 | LDLR | c.1779G= (p.Lys593=) c.1521G= (p.Lys507=) c.1401G= (p.Lys467=) c.1775G= c.1017G= (p.Lys339=) c.1398G= (p.Lys466=) c.1140G= (p.Lys380=) c.242G= n.1671G= n.1638G= | |
19 | g.11113697G>T | CA404086506 | LDLR | c.1779G>T (p.Lys593Asn) c.1521G>T (p.Lys507Asn) c.1401G>T (p.Lys467Asn) c.1775G>T c.1017G>T (p.Lys339Asn) c.1398G>T (p.Lys466Asn) c.1140G>T (p.Lys380Asn) c.242G>T n.1671G>T n.1638G>T | |
19 | g.11113697_11113698delinsGA | CA2322772011 | LDLR | c.1779_1780delinsGA (p.Lys593=) c.1521_1522delinsGA (p.Lys507=) c.1401_1402delinsGA (p.Lys467=) c.1775_1776delinsGA c.1017_1018delinsGA (p.Lys339=) c.1398_1399delinsGA (p.Lys466=) c.1140_1141delinsGA (p.Lys380=) c.242_243delinsGA n.1671_1672delinsGA n.1638_1639delinsGA | |
19 | g.11113698A= | CA2322772013 | LDLR | c.1780A= (p.Arg594=) c.1522A= (p.Arg508=) c.1402A= (p.Arg468=) c.1776A= c.1018A= (p.Arg340=) c.1399A= (p.Arg467=) c.1141A= (p.Arg381=) c.243A= n.1672A= n.1639A= | |
19 | g.11113698A>C | CA505743296 | LDLR | c.1780A>C (p.Arg594=) c.1522A>C (p.Arg508=) c.1402A>C (p.Arg468=) c.1776A>C c.1018A>C (p.Arg340=) c.1399A>C (p.Arg467=) c.1141A>C (p.Arg381=) c.243A>C n.1672A>C n.1639A>C | |
19 | g.11113698A>G | CA404086507 | LDLR | c.1780A>G (p.Arg594Gly) c.1522A>G (p.Arg508Gly) c.1402A>G (p.Arg468Gly) c.1776A>G c.1018A>G (p.Arg340Gly) c.1399A>G (p.Arg467Gly) c.1141A>G (p.Arg381Gly) c.243A>G n.1672A>G n.1639A>G | |
19 | g.11113698A>T | CA404086508 | LDLR | c.1780A>T (p.Arg594Trp) c.1522A>T (p.Arg508Trp) c.1402A>T (p.Arg468Trp) c.1776A>T c.1018A>T (p.Arg340Trp) c.1399A>T (p.Arg467Trp) c.1141A>T (p.Arg381Trp) c.243A>T n.1672A>T n.1639A>T | ClinVar dbSNP |
19 | g.11113698delinsCTGAAT | CA10585491 | LDLR | c.1780delinsCTGAAT (p.Arg594LeufsTer?) c.1522delinsCTGAAT (p.Arg508LeufsTer?) c.1402delinsCTGAAT (p.Arg468LeufsTer?) c.1776delinsCTGAAT c.1018delinsCTGAAT (p.Arg340LeufsTer?) c.1399delinsCTGAAT (p.Arg467LeufsTer?) c.1141delinsCTGAAT (p.Arg381LeufsTer?) c.243delinsCTGAAT n.1672delinsCTGAAT n.1639delinsCTGAAT | ClinVar dbSNP |
19 | g.11113699G>A | CA404086509 | LDLR | c.1781G>A (p.Arg594Lys) c.1523G>A (p.Arg508Lys) c.1403G>A (p.Arg468Lys) c.1777G>A c.1019G>A (p.Arg340Lys) c.1400G>A (p.Arg467Lys) c.1142G>A (p.Arg381Lys) c.244G>A n.1673G>A n.1640G>A | dbSNP gnomAD v2 |
19 | g.11113699G>C | CA404086510 | LDLR | c.1781G>C (p.Arg594Thr) c.1523G>C (p.Arg508Thr) c.1403G>C (p.Arg468Thr) c.1777G>C c.1019G>C (p.Arg340Thr) c.1400G>C (p.Arg467Thr) c.1142G>C (p.Arg381Thr) c.244G>C n.1673G>C n.1640G>C | |
19 | g.11113699G= | CA2322772014 | LDLR | c.1781G= (p.Arg594=) c.1523G= (p.Arg508=) c.1403G= (p.Arg468=) c.1777G= c.1019G= (p.Arg340=) c.1400G= (p.Arg467=) c.1142G= (p.Arg381=) c.244G= n.1673G= n.1640G= | |
19 | g.11113699G>T | CA404086511 | LDLR | c.1781G>T (p.Arg594Met) c.1523G>T (p.Arg508Met) c.1403G>T (p.Arg468Met) c.1777G>T c.1019G>T (p.Arg340Met) c.1400G>T (p.Arg467Met) c.1142G>T (p.Arg381Met) c.244G>T n.1673G>T n.1640G>T | |
19 | g.11113700G>A | CA505743297 | LDLR | c.1782G>A (p.Arg594=) c.1524G>A (p.Arg508=) c.1404G>A (p.Arg468=) c.1778G>A c.1020G>A (p.Arg340=) c.1401G>A (p.Arg467=) c.1143G>A (p.Arg381=) c.245G>A n.1674G>A n.1641G>A | ClinVar gnomAD v4 |
19 | g.11113700G>C | CA404086512 | LDLR | c.1782G>C (p.Arg594Ser) c.1524G>C (p.Arg508Ser) c.1404G>C (p.Arg468Ser) c.1778G>C c.1020G>C (p.Arg340Ser) c.1401G>C (p.Arg467Ser) c.1143G>C (p.Arg381Ser) c.245G>C n.1674G>C n.1641G>C | |
19 | g.11113700G>T | CA404086513 | LDLR | c.1782G>T (p.Arg594Ser) c.1524G>T (p.Arg508Ser) c.1404G>T (p.Arg468Ser) c.1778G>T c.1020G>T (p.Arg340Ser) c.1401G>T (p.Arg467Ser) c.1143G>T (p.Arg381Ser) c.245G>T n.1674G>T n.1641G>T | |
19 | g.11113701A= | CA2322772015 | LDLR | c.1783A= (p.Lys595=) c.1525A= (p.Lys509=) c.1405A= (p.Lys469=) c.1779A= c.1021A= (p.Lys341=) c.1402A= (p.Lys468=) c.1144A= (p.Lys382=) c.246A= n.1675A= n.1642A= | |
19 | g.11113701A>C | CA404086514 | LDLR | c.1783A>C (p.Lys595Gln) c.1525A>C (p.Lys509Gln) c.1405A>C (p.Lys469Gln) c.1779A>C c.1021A>C (p.Lys341Gln) c.1402A>C (p.Lys468Gln) c.1144A>C (p.Lys382Gln) c.246A>C n.1675A>C n.1642A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113701A>G | CA10585492 | LDLR | c.1783A>G (p.Lys595Glu) c.1525A>G (p.Lys509Glu) c.1405A>G (p.Lys469Glu) c.1779A>G c.1021A>G (p.Lys341Glu) c.1402A>G (p.Lys468Glu) c.1144A>G (p.Lys382Glu) c.246A>G n.1675A>G n.1642A>G | ClinVar dbSNP |
19 | g.11113701A>T | CA404086515 | LDLR | c.1783A>T (p.Lys595Ter) c.1525A>T (p.Lys509Ter) c.1405A>T (p.Lys469Ter) c.1779A>T c.1021A>T (p.Lys341Ter) c.1402A>T (p.Lys468Ter) c.1144A>T (p.Lys382Ter) c.246A>T n.1675A>T n.1642A>T | |
19 | g.11113704dup | CA2695228117 | LDLR | c.1786dup (p.Thr596AsnfsTer26) c.1528dup (p.Thr510AsnfsTer26) c.1408dup (p.Thr470AsnfsTer26) c.1782dup c.1024dup (p.Thr342AsnfsTer26) c.1405dup (p.Thr469AsnfsTer26) c.1147dup (p.Thr383AsnfsTer26) c.249dup n.1678dup n.1645dup | |
19 | g.11113702A>C | CA404086516 | LDLR | c.1784A>C (p.Lys595Thr) c.1526A>C (p.Lys509Thr) c.1406A>C (p.Lys469Thr) c.1780A>C c.1022A>C (p.Lys341Thr) c.1403A>C (p.Lys468Thr) c.1145A>C (p.Lys382Thr) c.247A>C n.1676A>C n.1643A>C | |
19 | g.11113702A>G | CA404086517 | LDLR | c.1784A>G (p.Lys595Arg) c.1526A>G (p.Lys509Arg) c.1406A>G (p.Lys469Arg) c.1780A>G c.1022A>G (p.Lys341Arg) c.1403A>G (p.Lys468Arg) c.1145A>G (p.Lys382Arg) c.247A>G n.1676A>G n.1643A>G | gnomAD v4 |
19 | g.11113702A>T | CA404086518 | LDLR | c.1784A>T (p.Lys595Ile) c.1526A>T (p.Lys509Ile) c.1406A>T (p.Lys469Ile) c.1780A>T c.1022A>T (p.Lys341Ile) c.1403A>T (p.Lys468Ile) c.1145A>T (p.Lys382Ile) c.247A>T n.1676A>T n.1643A>T | |
19 | g.11113703A= | CA2322772016 | LDLR | c.1785A= (p.Lys595=) c.1527A= (p.Lys509=) c.1407A= (p.Lys469=) c.1781A= c.1023A= (p.Lys341=) c.1404A= (p.Lys468=) c.1146A= (p.Lys382=) c.248A= n.1677A= n.1644A= | |
19 | g.11113703A>C | CA404086519 | LDLR | c.1785A>C (p.Lys595Asn) c.1527A>C (p.Lys509Asn) c.1407A>C (p.Lys469Asn) c.1781A>C c.1023A>C (p.Lys341Asn) c.1404A>C (p.Lys468Asn) c.1146A>C (p.Lys382Asn) c.248A>C n.1677A>C n.1644A>C | |
19 | g.11113703A>G | CA505743298 | LDLR | c.1785A>G (p.Lys595=) c.1527A>G (p.Lys509=) c.1407A>G (p.Lys469=) c.1781A>G c.1023A>G (p.Lys341=) c.1404A>G (p.Lys468=) c.1146A>G (p.Lys382=) c.248A>G n.1677A>G n.1644A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113703A>T | CA404086520 | LDLR | c.1785A>T (p.Lys595Asn) c.1527A>T (p.Lys509Asn) c.1407A>T (p.Lys469Asn) c.1781A>T c.1023A>T (p.Lys341Asn) c.1404A>T (p.Lys468Asn) c.1146A>T (p.Lys382Asn) c.248A>T n.1677A>T n.1644A>T | dbSNP |
19 | g.11113704A>C | CA404086521 | LDLR | c.1786A>C (p.Thr596Pro) c.1528A>C (p.Thr510Pro) c.1408A>C (p.Thr470Pro) c.1782A>C c.1024A>C (p.Thr342Pro) c.1405A>C (p.Thr469Pro) c.1147A>C (p.Thr383Pro) c.249A>C n.1678A>C n.1645A>C | |
19 | g.11113704A>G | CA404086522 | LDLR | c.1786A>G (p.Thr596Ala) c.1528A>G (p.Thr510Ala) c.1408A>G (p.Thr470Ala) c.1782A>G c.1024A>G (p.Thr342Ala) c.1405A>G (p.Thr469Ala) c.1147A>G (p.Thr383Ala) c.249A>G n.1678A>G n.1645A>G | gnomAD v4 |
19 | g.11113704A>T | CA404086523 | LDLR | c.1786A>T (p.Thr596Ser) c.1528A>T (p.Thr510Ser) c.1408A>T (p.Thr470Ser) c.1782A>T c.1024A>T (p.Thr342Ser) c.1405A>T (p.Thr469Ser) c.1147A>T (p.Thr383Ser) c.249A>T n.1678A>T n.1645A>T | |
19 | g.11113704_11113705delinsAC | CA2322772017 | LDLR | c.1786_1787delinsAC (p.Thr596=) c.1528_1529delinsAC (p.Thr510=) c.1408_1409delinsAC (p.Thr470=) c.1782_1783delinsAC c.1024_1025delinsAC (p.Thr342=) c.1405_1406delinsAC (p.Thr469=) c.1147_1148delinsAC (p.Thr383=) c.249_250delinsAC n.1678_1679delinsAC n.1645_1646delinsAC | |
19 | g.11113705del | CA16602331 | LDLR | c.1787del (p.Thr596SerfsTer?) c.1529del (p.Thr510SerfsTer?) c.1409del (p.Thr470SerfsTer?) c.1783del c.1025del (p.Thr342SerfsTer?) c.1406del (p.Thr469SerfsTer?) c.1148del (p.Thr383SerfsTer?) c.250del n.1679del n.1646del | ClinVar dbSNP |
19 | g.11113705C>A | CA404086524 | LDLR | c.1787C>A (p.Thr596Lys) c.1529C>A (p.Thr510Lys) c.1409C>A (p.Thr470Lys) c.1783C>A c.1025C>A (p.Thr342Lys) c.1406C>A (p.Thr469Lys) c.1148C>A (p.Thr383Lys) c.250C>A n.1679C>A n.1646C>A | |
19 | g.11113705C= | CA2322772018 | LDLR | c.1787C= (p.Thr596=) c.1529C= (p.Thr510=) c.1409C= (p.Thr470=) c.1783C= c.1025C= (p.Thr342=) c.1406C= (p.Thr469=) c.1148C= (p.Thr383=) c.250C= n.1679C= n.1646C= | |
19 | g.11113705C>G | CA404086525 | LDLR | c.1787C>G (p.Thr596Arg) c.1529C>G (p.Thr510Arg) c.1409C>G (p.Thr470Arg) c.1783C>G c.1025C>G (p.Thr342Arg) c.1406C>G (p.Thr469Arg) c.1148C>G (p.Thr383Arg) c.250C>G n.1679C>G n.1646C>G | |
19 | g.11113705C>T | CA034662 | LDLR | c.1787C>T (p.Thr596Met) c.1529C>T (p.Thr510Met) c.1409C>T (p.Thr470Met) c.1783C>T c.1025C>T (p.Thr342Met) c.1406C>T (p.Thr469Met) c.1148C>T (p.Thr383Met) c.250C>T n.1679C>T n.1646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113705_11113706delinsCG | CA2322772019 | LDLR | c.1787_1788delinsCG (p.Thr596=) c.1529_1530delinsCG (p.Thr510=) c.1409_1410delinsCG (p.Thr470=) c.1783_1784delinsCG c.1025_1026delinsCG (p.Thr342=) c.1406_1407delinsCG (p.Thr469=) c.1148_1149delinsCG (p.Thr383=) c.250_251delinsCG n.1679_1680delinsCG n.1646_1647delinsCG | |
19 | g.11113706del | CA645373233 | LDLR | c.1788del (p.Leu597TyrfsTer?) c.1530del (p.Leu511TyrfsTer?) c.1410del (p.Leu471TyrfsTer?) c.1784del c.1026del (p.Leu343TyrfsTer?) c.1407del (p.Leu470TyrfsTer?) c.1149del (p.Leu384TyrfsTer?) c.251del n.1680del n.1647del | ClinVar dbSNP |
19 | g.11113706G>A | CA034680 | LDLR | c.1788G>A (p.Thr596=) c.1530G>A (p.Thr510=) c.1410G>A (p.Thr470=) c.1784G>A c.1026G>A (p.Thr342=) c.1407G>A (p.Thr469=) c.1149G>A (p.Thr383=) c.251G>A n.1680G>A n.1647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113706G>C | CA505743299 | LDLR | c.1788G>C (p.Thr596=) c.1530G>C (p.Thr510=) c.1410G>C (p.Thr470=) c.1784G>C c.1026G>C (p.Thr342=) c.1407G>C (p.Thr469=) c.1149G>C (p.Thr383=) c.251G>C n.1680G>C n.1647G>C | |
19 | g.11113706G= | CA2322772020 | LDLR | c.1788G= (p.Thr596=) c.1530G= (p.Thr510=) c.1410G= (p.Thr470=) c.1784G= c.1026G= (p.Thr342=) c.1407G= (p.Thr469=) c.1149G= (p.Thr383=) c.251G= n.1680G= n.1647G= | |
19 | g.11113706G>T | CA505743300 | LDLR | c.1788G>T (p.Thr596=) c.1530G>T (p.Thr510=) c.1410G>T (p.Thr470=) c.1784G>T c.1026G>T (p.Thr342=) c.1407G>T (p.Thr469=) c.1149G>T (p.Thr383=) c.251G>T n.1680G>T n.1647G>T | |
19 | g.11113706_11113708del | CA2497030069 | LDLR | c.1788_1790del (p.Leu597del) c.1530_1532del (p.Leu511del) c.1410_1412del (p.Leu471del) c.1784_1786del c.1026_1028del (p.Leu343del) c.1407_1409del (p.Leu470del) c.1149_1151del (p.Leu384del) c.251_253del n.1680_1682del n.1647_1649del | |
19 | g.11113707T>A | CA404086526 | LDLR | c.1789T>A (p.Leu597Ile) c.1531T>A (p.Leu511Ile) c.1411T>A (p.Leu471Ile) c.1785T>A c.1027T>A (p.Leu343Ile) c.1408T>A (p.Leu470Ile) c.1150T>A (p.Leu384Ile) c.252T>A n.1681T>A n.1648T>A | |
19 | g.11113707T>C | CA505743301 | LDLR | c.1789T>C (p.Leu597=) c.1531T>C (p.Leu511=) c.1411T>C (p.Leu471=) c.1785T>C c.1027T>C (p.Leu343=) c.1408T>C (p.Leu470=) c.1150T>C (p.Leu384=) c.252T>C n.1681T>C n.1648T>C | |
19 | g.11113707T>G | CA404086527 | LDLR | c.1789T>G (p.Leu597Val) c.1531T>G (p.Leu511Val) c.1411T>G (p.Leu471Val) c.1785T>G c.1027T>G (p.Leu343Val) c.1408T>G (p.Leu470Val) c.1150T>G (p.Leu384Val) c.252T>G n.1681T>G n.1648T>G | |
19 | g.11113707_11113708dup | CA2499225322 | LDLR | c.1789_1790dup (p.Leu597PhefsTer?) c.1531_1532dup (p.Leu511PhefsTer?) c.1411_1412dup (p.Leu471PhefsTer?) c.1785_1786dup c.1027_1028dup (p.Leu343PhefsTer?) c.1408_1409dup (p.Leu470PhefsTer?) c.1150_1151dup (p.Leu384PhefsTer?) c.252_253dup n.1681_1682dup n.1648_1649dup | ClinVar dbSNP |
19 | g.11113708T>A | CA404086528 | LDLR | c.1790T>A (p.Leu597Ter) c.1532T>A (p.Leu511Ter) c.1412T>A (p.Leu471Ter) c.1786T>A c.1028T>A (p.Leu343Ter) c.1409T>A (p.Leu470Ter) c.1151T>A (p.Leu384Ter) c.253T>A n.1682T>A n.1649T>A | |
19 | g.11113708T>C | CA10585493 | LDLR | c.1790T>C (p.Leu597Ser) c.1532T>C (p.Leu511Ser) c.1412T>C (p.Leu471Ser) c.1786T>C c.1028T>C (p.Leu343Ser) c.1409T>C (p.Leu470Ser) c.1151T>C (p.Leu384Ser) c.253T>C n.1682T>C n.1649T>C | ClinVar dbSNP |
19 | g.11113708T>G | CA10585494 | LDLR | c.1790T>G (p.Leu597Ter) c.1532T>G (p.Leu511Ter) c.1412T>G (p.Leu471Ter) c.1786T>G c.1028T>G (p.Leu343Ter) c.1409T>G (p.Leu470Ter) c.1151T>G (p.Leu384Ter) c.253T>G n.1682T>G n.1649T>G | ClinVar dbSNP |
19 | g.11113708T= | CA2322772021 | LDLR | c.1790T= (p.Leu597=) c.1532T= (p.Leu511=) c.1412T= (p.Leu471=) c.1786T= c.1028T= (p.Leu343=) c.1409T= (p.Leu470=) c.1151T= (p.Leu384=) c.253T= n.1682T= n.1649T= | |
19 | g.11113709A= | CA2322772022 | LDLR | c.1791A= (p.Leu597=) c.1533A= (p.Leu511=) c.1413A= (p.Leu471=) c.1787A= c.1029A= (p.Leu343=) c.1410A= (p.Leu470=) c.1152A= (p.Leu384=) c.254A= n.1683A= n.1650A= | |
19 | g.11113709A>C | CA404086530 | LDLR | c.1791A>C (p.Leu597Phe) c.1533A>C (p.Leu511Phe) c.1413A>C (p.Leu471Phe) c.1787A>C c.1029A>C (p.Leu343Phe) c.1410A>C (p.Leu470Phe) c.1152A>C (p.Leu384Phe) c.254A>C n.1683A>C n.1650A>C | |
19 | g.11113709A>G | CA505743302 | LDLR | c.1791A>G (p.Leu597=) c.1533A>G (p.Leu511=) c.1413A>G (p.Leu471=) c.1787A>G c.1029A>G (p.Leu343=) c.1410A>G (p.Leu470=) c.1152A>G (p.Leu384=) c.254A>G n.1683A>G n.1650A>G | ClinVar dbSNP |
19 | g.11113709A>T | CA404086529 | LDLR | c.1791A>T (p.Leu597Phe) c.1533A>T (p.Leu511Phe) c.1413A>T (p.Leu471Phe) c.1787A>T c.1029A>T (p.Leu343Phe) c.1410A>T (p.Leu470Phe) c.1152A>T (p.Leu384Phe) c.254A>T n.1683A>T n.1650A>T | ClinVar dbSNP |
19 | g.11113709dup | CA10585495 | LDLR | c.1791dup (p.Phe598IlefsTer24) c.1533dup (p.Phe512IlefsTer24) c.1413dup (p.Phe472IlefsTer24) c.1787dup c.1029dup (p.Phe344IlefsTer24) c.1410dup (p.Phe471IlefsTer24) c.1152dup (p.Phe385IlefsTer24) c.254dup n.1683dup n.1650dup | ClinVar dbSNP |
19 | g.11113710T>A | CA404086531 | LDLR | c.1792T>A (p.Phe598Ile) c.1534T>A (p.Phe512Ile) c.1414T>A (p.Phe472Ile) c.1788T>A c.1030T>A (p.Phe344Ile) c.1411T>A (p.Phe471Ile) c.1153T>A (p.Phe385Ile) c.255T>A n.1684T>A n.1651T>A | |
19 | g.11113710T>C | CA404086532 | LDLR | c.1792T>C (p.Phe598Leu) c.1534T>C (p.Phe512Leu) c.1414T>C (p.Phe472Leu) c.1788T>C c.1030T>C (p.Phe344Leu) c.1411T>C (p.Phe471Leu) c.1153T>C (p.Phe385Leu) c.255T>C n.1684T>C n.1651T>C | |
19 | g.11113710T>G | CA404086533 | LDLR | c.1792T>G (p.Phe598Val) c.1534T>G (p.Phe512Val) c.1414T>G (p.Phe472Val) c.1788T>G c.1030T>G (p.Phe344Val) c.1411T>G (p.Phe471Val) c.1153T>G (p.Phe385Val) c.255T>G n.1684T>G n.1651T>G | |
19 | g.11113711T>A | CA404086534 | LDLR | c.1793T>A (p.Phe598Tyr) c.1535T>A (p.Phe512Tyr) c.1415T>A (p.Phe472Tyr) c.1789T>A c.1031T>A (p.Phe344Tyr) c.1412T>A (p.Phe471Tyr) c.1154T>A (p.Phe385Tyr) c.256T>A n.1685T>A n.1652T>A | |
19 | g.11113711T>C | CA404086535 | LDLR | c.1793T>C (p.Phe598Ser) c.1535T>C (p.Phe512Ser) c.1415T>C (p.Phe472Ser) c.1789T>C c.1031T>C (p.Phe344Ser) c.1412T>C (p.Phe471Ser) c.1154T>C (p.Phe385Ser) c.256T>C n.1685T>C n.1652T>C | gnomAD v4 |
19 | g.11113711T>G | CA404086536 | LDLR | c.1793T>G (p.Phe598Cys) c.1535T>G (p.Phe512Cys) c.1415T>G (p.Phe472Cys) c.1789T>G c.1031T>G (p.Phe344Cys) c.1412T>G (p.Phe471Cys) c.1154T>G (p.Phe385Cys) c.256T>G n.1685T>G n.1652T>G | |
19 | g.11113712C>A | CA404086537 | LDLR | c.1794C>A (p.Phe598Leu) c.1536C>A (p.Phe512Leu) c.1416C>A (p.Phe472Leu) c.1790C>A c.1032C>A (p.Phe344Leu) c.1413C>A (p.Phe471Leu) c.1155C>A (p.Phe385Leu) c.257C>A n.1686C>A n.1653C>A | |
19 | g.11113712C>G | CA404086538 | LDLR | c.1794C>G (p.Phe598Leu) c.1536C>G (p.Phe512Leu) c.1416C>G (p.Phe472Leu) c.1790C>G c.1032C>G (p.Phe344Leu) c.1413C>G (p.Phe471Leu) c.1155C>G (p.Phe385Leu) c.257C>G n.1686C>G n.1653C>G | dbSNP |
19 | g.11113712C>T | CA505743303 | LDLR | c.1794C>T (p.Phe598=) c.1536C>T (p.Phe512=) c.1416C>T (p.Phe472=) c.1790C>T c.1032C>T (p.Phe344=) c.1413C>T (p.Phe471=) c.1155C>T (p.Phe385=) c.257C>T n.1686C>T n.1653C>T | gnomAD v4 |
19 | g.11113713A= | CA2322772023 | LDLR | c.1795A= (p.Arg599=) c.1537A= (p.Arg513=) c.1417A= (p.Arg473=) c.1791A= c.1033A= (p.Arg345=) c.1414A= (p.Arg472=) c.1156A= (p.Arg386=) c.258A= n.1687A= n.1654A= | |
19 | g.11113713A>C | CA505743304 | LDLR | c.1795A>C (p.Arg599=) c.1537A>C (p.Arg513=) c.1417A>C (p.Arg473=) c.1791A>C c.1033A>C (p.Arg345=) c.1414A>C (p.Arg472=) c.1156A>C (p.Arg386=) c.258A>C n.1687A>C n.1654A>C | |
19 | g.11113713A>G | CA404086539 | LDLR | c.1795A>G (p.Arg599Gly) c.1537A>G (p.Arg513Gly) c.1417A>G (p.Arg473Gly) c.1791A>G c.1033A>G (p.Arg345Gly) c.1414A>G (p.Arg472Gly) c.1156A>G (p.Arg386Gly) c.258A>G n.1687A>G n.1654A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113713A>T | CA404086540 | LDLR | c.1795A>T (p.Arg599Trp) c.1537A>T (p.Arg513Trp) c.1417A>T (p.Arg473Trp) c.1791A>T c.1033A>T (p.Arg345Trp) c.1414A>T (p.Arg472Trp) c.1156A>T (p.Arg386Trp) c.258A>T n.1687A>T n.1654A>T | |
19 | g.11113714G>A | CA10585496 | LDLR | c.1796G>A (p.Arg599Lys) c.1538G>A (p.Arg513Lys) c.1418G>A (p.Arg473Lys) c.1792G>A c.1034G>A (p.Arg345Lys) c.1415G>A (p.Arg472Lys) c.1157G>A (p.Arg386Lys) c.259G>A n.1688G>A n.1655G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113714G>C | CA404086541 | LDLR | c.1796G>C (p.Arg599Thr) c.1538G>C (p.Arg513Thr) c.1418G>C (p.Arg473Thr) c.1792G>C c.1034G>C (p.Arg345Thr) c.1415G>C (p.Arg472Thr) c.1157G>C (p.Arg386Thr) c.259G>C n.1688G>C n.1655G>C | |
19 | g.11113714G= | CA2322772024 | LDLR | c.1796G= (p.Arg599=) c.1538G= (p.Arg513=) c.1418G= (p.Arg473=) c.1792G= c.1034G= (p.Arg345=) c.1415G= (p.Arg472=) c.1157G= (p.Arg386=) c.259G= n.1688G= n.1655G= | |
19 | g.11113714G>T | CA404086542 | LDLR | c.1796G>T (p.Arg599Met) c.1538G>T (p.Arg513Met) c.1418G>T (p.Arg473Met) c.1792G>T c.1034G>T (p.Arg345Met) c.1415G>T (p.Arg472Met) c.1157G>T (p.Arg386Met) c.259G>T n.1688G>T n.1655G>T | |
19 | g.11113716del | CA2695228118 | LDLR | c.1798del (p.Glu600ArgfsTer?) c.1540del (p.Glu514ArgfsTer?) c.1420del (p.Glu474ArgfsTer?) c.1794del c.1036del (p.Glu346ArgfsTer?) c.1417del (p.Glu473ArgfsTer?) c.1159del (p.Glu387ArgfsTer?) c.261del n.1690del n.1657del | |
19 | g.11113715G>A | CA505743305 | LDLR | c.1797G>A (p.Arg599=) c.1539G>A (p.Arg513=) c.1419G>A (p.Arg473=) c.1793G>A c.1035G>A (p.Arg345=) c.1416G>A (p.Arg472=) c.1158G>A (p.Arg386=) c.260G>A n.1689G>A n.1656G>A | |
19 | g.11113715G>C | CA404086543 | LDLR | c.1797G>C (p.Arg599Ser) c.1539G>C (p.Arg513Ser) c.1419G>C (p.Arg473Ser) c.1793G>C c.1035G>C (p.Arg345Ser) c.1416G>C (p.Arg472Ser) c.1158G>C (p.Arg386Ser) c.260G>C n.1689G>C n.1656G>C | |
19 | g.11113715G>T | CA404086544 | LDLR | c.1797G>T (p.Arg599Ser) c.1539G>T (p.Arg513Ser) c.1419G>T (p.Arg473Ser) c.1793G>T c.1035G>T (p.Arg345Ser) c.1416G>T (p.Arg472Ser) c.1158G>T (p.Arg386Ser) c.260G>T n.1689G>T n.1656G>T | |
19 | g.11113716G>A | CA404086545 | LDLR | c.1798G>A (p.Glu600Lys) c.1540G>A (p.Glu514Lys) c.1420G>A (p.Glu474Lys) c.1794G>A c.1036G>A (p.Glu346Lys) c.1417G>A (p.Glu473Lys) c.1159G>A (p.Glu387Lys) c.261G>A n.1690G>A n.1657G>A | ClinVar dbSNP |
19 | g.11113716G>C | CA404086547 | LDLR | c.1798G>C (p.Glu600Gln) c.1540G>C (p.Glu514Gln) c.1420G>C (p.Glu474Gln) c.1794G>C c.1036G>C (p.Glu346Gln) c.1417G>C (p.Glu473Gln) c.1159G>C (p.Glu387Gln) c.261G>C n.1690G>C n.1657G>C | |
19 | g.11113716G= | CA2322772025 | LDLR | c.1798G= (p.Glu600=) c.1540G= (p.Glu514=) c.1420G= (p.Glu474=) c.1794G= c.1036G= (p.Glu346=) c.1417G= (p.Glu473=) c.1159G= (p.Glu387=) c.261G= n.1690G= n.1657G= | |
19 | g.11113716G>T | CA404086546 | LDLR | c.1798G>T (p.Glu600Ter) c.1540G>T (p.Glu514Ter) c.1420G>T (p.Glu474Ter) c.1794G>T c.1036G>T (p.Glu346Ter) c.1417G>T (p.Glu473Ter) c.1159G>T (p.Glu387Ter) c.261G>T n.1690G>T n.1657G>T | ClinVar dbSNP |
19 | g.11113717A>C | CA404086548 | LDLR | c.1799A>C (p.Glu600Ala) c.1541A>C (p.Glu514Ala) c.1421A>C (p.Glu474Ala) c.1795A>C c.1037A>C (p.Glu346Ala) c.1418A>C (p.Glu473Ala) c.1160A>C (p.Glu387Ala) c.262A>C n.1691A>C n.1658A>C | |
19 | g.11113717A>G | CA404086549 | LDLR | c.1799A>G (p.Glu600Gly) c.1541A>G (p.Glu514Gly) c.1421A>G (p.Glu474Gly) c.1795A>G c.1037A>G (p.Glu346Gly) c.1418A>G (p.Glu473Gly) c.1160A>G (p.Glu387Gly) c.262A>G n.1691A>G n.1658A>G | |
19 | g.11113717A>T | CA404086550 | LDLR | c.1799A>T (p.Glu600Val) c.1541A>T (p.Glu514Val) c.1421A>T (p.Glu474Val) c.1795A>T c.1037A>T (p.Glu346Val) c.1418A>T (p.Glu473Val) c.1160A>T (p.Glu387Val) c.262A>T n.1691A>T n.1658A>T | |
19 | g.11113718G>A | CA505743306 | LDLR | c.1800G>A (p.Glu600=) c.1542G>A (p.Glu514=) c.1422G>A (p.Glu474=) c.1796G>A c.1038G>A (p.Glu346=) c.1419G>A (p.Glu473=) c.1161G>A (p.Glu387=) c.263G>A n.1692G>A n.1659G>A | |
19 | g.11113718G>C | CA404086551 | LDLR | c.1800G>C (p.Glu600Asp) c.1542G>C (p.Glu514Asp) c.1422G>C (p.Glu474Asp) c.1796G>C c.1038G>C (p.Glu346Asp) c.1419G>C (p.Glu473Asp) c.1161G>C (p.Glu387Asp) c.263G>C n.1692G>C n.1659G>C | |
19 | g.11113718G>T | CA404086552 | LDLR | c.1800G>T (p.Glu600Asp) c.1542G>T (p.Glu514Asp) c.1422G>T (p.Glu474Asp) c.1796G>T c.1038G>T (p.Glu346Asp) c.1419G>T (p.Glu473Asp) c.1161G>T (p.Glu387Asp) c.263G>T n.1692G>T n.1659G>T | gnomAD v4 |
19 | g.11113719A>C | CA404086553 | LDLR | c.1801A>C (p.Asn601His) c.1543A>C (p.Asn515His) c.1423A>C (p.Asn475His) c.1797A>C c.1039A>C (p.Asn347His) c.1420A>C (p.Asn474His) c.1162A>C (p.Asn388His) c.264A>C n.1693A>C n.1660A>C | |
19 | g.11113719A>G | CA404086554 | LDLR | c.1801A>G (p.Asn601Asp) c.1543A>G (p.Asn515Asp) c.1423A>G (p.Asn475Asp) c.1797A>G c.1039A>G (p.Asn347Asp) c.1420A>G (p.Asn474Asp) c.1162A>G (p.Asn388Asp) c.264A>G n.1693A>G n.1660A>G | |
19 | g.11113719A>T | CA404086555 | LDLR | c.1801A>T (p.Asn601Tyr) c.1543A>T (p.Asn515Tyr) c.1423A>T (p.Asn475Tyr) c.1797A>T c.1039A>T (p.Asn347Tyr) c.1420A>T (p.Asn474Tyr) c.1162A>T (p.Asn388Tyr) c.264A>T n.1693A>T n.1660A>T | |
19 | g.11113720A>C | CA404086556 | LDLR | c.1802A>C (p.Asn601Thr) c.1544A>C (p.Asn515Thr) c.1424A>C (p.Asn475Thr) c.1798A>C c.1040A>C (p.Asn347Thr) c.1421A>C (p.Asn474Thr) c.1163A>C (p.Asn388Thr) c.265A>C n.1694A>C n.1661A>C | |
19 | g.11113720A>G | CA404086557 | LDLR | c.1802A>G (p.Asn601Ser) c.1544A>G (p.Asn515Ser) c.1424A>G (p.Asn475Ser) c.1798A>G c.1040A>G (p.Asn347Ser) c.1421A>G (p.Asn474Ser) c.1163A>G (p.Asn388Ser) c.265A>G n.1694A>G n.1661A>G | |
19 | g.11113720A>T | CA404086558 | LDLR | c.1802A>T (p.Asn601Ile) c.1544A>T (p.Asn515Ile) c.1424A>T (p.Asn475Ile) c.1798A>T c.1040A>T (p.Asn347Ile) c.1421A>T (p.Asn474Ile) c.1163A>T (p.Asn388Ile) c.265A>T n.1694A>T n.1661A>T | |
19 | g.11113721del | CA2497030070 | LDLR | c.1803del (p.Asn601LysfsTer?) c.1545del (p.Asn515LysfsTer?) c.1425del (p.Asn475LysfsTer?) c.1799del c.1041del (p.Asn347LysfsTer?) c.1422del (p.Asn474LysfsTer?) c.1164del (p.Asn388LysfsTer?) c.266del n.1695del n.1662del | |
19 | g.11113721C>A | CA404086559 | LDLR | c.1803C>A (p.Asn601Lys) c.1545C>A (p.Asn515Lys) c.1425C>A (p.Asn475Lys) c.1799C>A c.1041C>A (p.Asn347Lys) c.1422C>A (p.Asn474Lys) c.1164C>A (p.Asn388Lys) c.266C>A n.1695C>A n.1662C>A | |
19 | g.11113721C= | CA2322772026 | LDLR | c.1803C= (p.Asn601=) c.1545C= (p.Asn515=) c.1425C= (p.Asn475=) c.1799C= c.1041C= (p.Asn347=) c.1422C= (p.Asn474=) c.1164C= (p.Asn388=) c.266C= n.1695C= n.1662C= | |
19 | g.11113721C>G | CA404086560 | LDLR | c.1803C>G (p.Asn601Lys) c.1545C>G (p.Asn515Lys) c.1425C>G (p.Asn475Lys) c.1799C>G c.1041C>G (p.Asn347Lys) c.1422C>G (p.Asn474Lys) c.1164C>G (p.Asn388Lys) c.266C>G n.1695C>G n.1662C>G | gnomAD v4 |
19 | g.11113721C>T | CA034701 | LDLR | c.1803C>T (p.Asn601=) c.1545C>T (p.Asn515=) c.1425C>T (p.Asn475=) c.1799C>T c.1041C>T (p.Asn347=) c.1422C>T (p.Asn474=) c.1164C>T (p.Asn388=) c.266C>T n.1695C>T n.1662C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113722G>A | CA034716 | LDLR | c.1804G>A (p.Gly602Ser) c.1546G>A (p.Gly516Ser) c.1426G>A (p.Gly476Ser) c.1800G>A c.1042G>A (p.Gly348Ser) c.1423G>A (p.Gly475Ser) c.1165G>A (p.Gly389Ser) c.267G>A n.1696G>A n.1663G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11113722G>C | CA404086562 | LDLR | c.1804G>C (p.Gly602Arg) c.1546G>C (p.Gly516Arg) c.1426G>C (p.Gly476Arg) c.1800G>C c.1042G>C (p.Gly348Arg) c.1423G>C (p.Gly475Arg) c.1165G>C (p.Gly389Arg) c.267G>C n.1696G>C n.1663G>C | |
19 | g.11113722G= | CA2322772027 | LDLR | c.1804G= (p.Gly602=) c.1546G= (p.Gly516=) c.1426G= (p.Gly476=) c.1800G= c.1042G= (p.Gly348=) c.1423G= (p.Gly475=) c.1165G= (p.Gly389=) c.267G= n.1696G= n.1663G= | |
19 | g.11113722G>T | CA404086561 | LDLR | c.1804G>T (p.Gly602Cys) c.1546G>T (p.Gly516Cys) c.1426G>T (p.Gly476Cys) c.1800G>T c.1042G>T (p.Gly348Cys) c.1423G>T (p.Gly475Cys) c.1165G>T (p.Gly389Cys) c.267G>T n.1696G>T n.1663G>T | gnomAD v4 |
19 | g.11113722_11113723del | CA2573050602 | LDLR | c.1804_1805del (p.Gly602LeufsTer19) c.1546_1547del (p.Gly516LeufsTer19) c.1426_1427del (p.Gly476LeufsTer19) c.1800_1801del c.1042_1043del (p.Gly348LeufsTer19) c.1423_1424del (p.Gly475LeufsTer19) c.1165_1166del (p.Gly389LeufsTer19) c.267_268del n.1696_1697del n.1663_1664del | |
19 | g.11113722_11113729delinsGGCTCCAA | CA2322772028 | LDLR | c.1804_1811delinsGGCTCCAA (p.Gly602=) c.1546_1553delinsGGCTCCAA (p.Gly516=) c.1426_1433delinsGGCTCCAA (p.Gly476=) c.1800_1807delinsGGCTCCAA c.1042_1049delinsGGCTCCAA (p.Gly348=) c.1423_1430delinsGGCTCCAA (p.Gly475=) c.1165_1172delinsGGCTCCAA (p.Gly389=) c.267_274delinsGGCTCCAA n.1696_1703delinsGGCTCCAA n.1663_1670delinsGGCTCCAA | |
19 | g.11113723G>A | CA023522 | LDLR | c.1805G>A (p.Gly602Asp) c.1547G>A (p.Gly516Asp) c.1427G>A (p.Gly476Asp) c.1801G>A c.1043G>A (p.Gly348Asp) c.1424G>A (p.Gly475Asp) c.1166G>A (p.Gly389Asp) c.268G>A n.1697G>A n.1664G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113723G>C | CA404086563 | LDLR | c.1805G>C (p.Gly602Ala) c.1547G>C (p.Gly516Ala) c.1427G>C (p.Gly476Ala) c.1801G>C c.1043G>C (p.Gly348Ala) c.1424G>C (p.Gly475Ala) c.1166G>C (p.Gly389Ala) c.268G>C n.1697G>C n.1664G>C | |
19 | g.11113723G= | CA2322772029 | LDLR | c.1805G= (p.Gly602=) c.1547G= (p.Gly516=) c.1427G= (p.Gly476=) c.1801G= c.1043G= (p.Gly348=) c.1424G= (p.Gly475=) c.1166G= (p.Gly389=) c.268G= n.1697G= n.1664G= | |
19 | g.11113723G>T | CA404086564 | LDLR | c.1805G>T (p.Gly602Val) c.1547G>T (p.Gly516Val) c.1427G>T (p.Gly476Val) c.1801G>T c.1043G>T (p.Gly348Val) c.1424G>T (p.Gly475Val) c.1166G>T (p.Gly389Val) c.268G>T n.1697G>T n.1664G>T | |
19 | g.11113725_11113731del | CA10585498 | LDLR | c.1807_1813del (p.Ser603GlnfsTer29) c.1549_1555del (p.Ser517GlnfsTer29) c.1429_1435del (p.Ser477GlnfsTer29) c.1803_1809del c.1045_1051del (p.Ser349GlnfsTer29) c.1426_1432del (p.Ser476GlnfsTer29) c.1168_1174del (p.Ser390GlnfsTer29) c.270_276del n.1699_1705del n.1666_1672del | ClinVar dbSNP |
19 | g.11113724C>A | CA505743307 | LDLR | c.1806C>A (p.Gly602=) c.1548C>A (p.Gly516=) c.1428C>A (p.Gly476=) c.1802C>A c.1044C>A (p.Gly348=) c.1425C>A (p.Gly475=) c.1167C>A (p.Gly389=) c.269C>A n.1698C>A n.1665C>A | |
19 | g.11113724C>G | CA505743308 | LDLR | c.1806C>G (p.Gly602=) c.1548C>G (p.Gly516=) c.1428C>G (p.Gly476=) c.1802C>G c.1044C>G (p.Gly348=) c.1425C>G (p.Gly475=) c.1167C>G (p.Gly389=) c.269C>G n.1698C>G n.1665C>G | |
19 | g.11113724C>T | CA505743309 | LDLR | c.1806C>T (p.Gly602=) c.1548C>T (p.Gly516=) c.1428C>T (p.Gly476=) c.1802C>T c.1044C>T (p.Gly348=) c.1425C>T (p.Gly475=) c.1167C>T (p.Gly389=) c.269C>T n.1698C>T n.1665C>T | ClinVar |
19 | g.11113725T>A | CA404086565 | LDLR | c.1807T>A (p.Ser603Thr) c.1549T>A (p.Ser517Thr) c.1429T>A (p.Ser477Thr) c.1803T>A c.1045T>A (p.Ser349Thr) c.1426T>A (p.Ser476Thr) c.1168T>A (p.Ser390Thr) c.270T>A n.1699T>A n.1666T>A | |
19 | g.11113725T>C | CA10585497 | LDLR | c.1807T>C (p.Ser603Pro) c.1549T>C (p.Ser517Pro) c.1429T>C (p.Ser477Pro) c.1803T>C c.1045T>C (p.Ser349Pro) c.1426T>C (p.Ser476Pro) c.1168T>C (p.Ser390Pro) c.270T>C n.1699T>C n.1666T>C | ClinVar dbSNP |
19 | g.11113725T>G | CA404086566 | LDLR | c.1807T>G (p.Ser603Ala) c.1549T>G (p.Ser517Ala) c.1429T>G (p.Ser477Ala) c.1803T>G c.1045T>G (p.Ser349Ala) c.1426T>G (p.Ser476Ala) c.1168T>G (p.Ser390Ala) c.270T>G n.1699T>G n.1666T>G | ClinVar |
19 | g.11113725T= | CA2322772030 | LDLR | c.1807T= (p.Ser603=) c.1549T= (p.Ser517=) c.1429T= (p.Ser477=) c.1803T= c.1045T= (p.Ser349=) c.1426T= (p.Ser476=) c.1168T= (p.Ser390=) c.270T= n.1699T= n.1666T= | |
19 | g.11113726C>A | CA404086567 | LDLR | c.1808C>A (p.Ser603Tyr) c.1550C>A (p.Ser517Tyr) c.1430C>A (p.Ser477Tyr) c.1804C>A c.1046C>A (p.Ser349Tyr) c.1427C>A (p.Ser476Tyr) c.1169C>A (p.Ser390Tyr) c.271C>A n.1700C>A n.1667C>A | COSMIC |
19 | g.11113726C= | CA2322772031 | LDLR | c.1808C= (p.Ser603=) c.1550C= (p.Ser517=) c.1430C= (p.Ser477=) c.1804C= c.1046C= (p.Ser349=) c.1427C= (p.Ser476=) c.1169C= (p.Ser390=) c.271C= n.1700C= n.1667C= | |
19 | g.11113726C>G | CA034759 | LDLR | c.1808C>G (p.Ser603Cys) c.1550C>G (p.Ser517Cys) c.1430C>G (p.Ser477Cys) c.1804C>G c.1046C>G (p.Ser349Cys) c.1427C>G (p.Ser476Cys) c.1169C>G (p.Ser390Cys) c.271C>G n.1700C>G n.1667C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113726C>T | CA404086568 | LDLR | c.1808C>T (p.Ser603Phe) c.1550C>T (p.Ser517Phe) c.1430C>T (p.Ser477Phe) c.1804C>T c.1046C>T (p.Ser349Phe) c.1427C>T (p.Ser476Phe) c.1169C>T (p.Ser390Phe) c.271C>T n.1700C>T n.1667C>T | ClinVar dbSNP |
19 | g.11113727C>A | CA505743310 | LDLR | c.1809C>A (p.Ser603=) c.1551C>A (p.Ser517=) c.1431C>A (p.Ser477=) c.1805C>A c.1047C>A (p.Ser349=) c.1428C>A (p.Ser476=) c.1170C>A (p.Ser390=) c.272C>A n.1701C>A n.1668C>A | |
19 | g.11113727C= | CA2322772032 | LDLR | c.1809C= (p.Ser603=) c.1551C= (p.Ser517=) c.1431C= (p.Ser477=) c.1805C= c.1047C= (p.Ser349=) c.1428C= (p.Ser476=) c.1170C= (p.Ser390=) c.272C= n.1701C= n.1668C= | |
19 | g.11113727C>G | CA505743311 | LDLR | c.1809C>G (p.Ser603=) c.1551C>G (p.Ser517=) c.1431C>G (p.Ser477=) c.1805C>G c.1047C>G (p.Ser349=) c.1428C>G (p.Ser476=) c.1170C>G (p.Ser390=) c.272C>G n.1701C>G n.1668C>G | |
19 | g.11113727C>T | CA505743312 | LDLR | c.1809C>T (p.Ser603=) c.1551C>T (p.Ser517=) c.1431C>T (p.Ser477=) c.1805C>T c.1047C>T (p.Ser349=) c.1428C>T (p.Ser476=) c.1170C>T (p.Ser390=) c.272C>T n.1701C>T n.1668C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11113728A= | CA2322772033 | LDLR | c.1810A= (p.Lys604=) c.1552A= (p.Lys518=) c.1432A= (p.Lys478=) c.1806A= c.1048A= (p.Lys350=) c.1429A= (p.Lys477=) c.1171A= (p.Lys391=) c.273A= n.1702A= n.1669A= | |
19 | g.11113728A>C | CA404086569 | LDLR | c.1810A>C (p.Lys604Gln) c.1552A>C (p.Lys518Gln) c.1432A>C (p.Lys478Gln) c.1806A>C c.1048A>C (p.Lys350Gln) c.1429A>C (p.Lys477Gln) c.1171A>C (p.Lys391Gln) c.273A>C n.1702A>C n.1669A>C | dbSNP |
19 | g.11113728A>G | CA10585499 | LDLR | c.1810A>G (p.Lys604Glu) c.1552A>G (p.Lys518Glu) c.1432A>G (p.Lys478Glu) c.1806A>G c.1048A>G (p.Lys350Glu) c.1429A>G (p.Lys477Glu) c.1171A>G (p.Lys391Glu) c.273A>G n.1702A>G n.1669A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11113728A>T | CA404086570 | LDLR | c.1810A>T (p.Lys604Ter) c.1552A>T (p.Lys518Ter) c.1432A>T (p.Lys478Ter) c.1806A>T c.1048A>T (p.Lys350Ter) c.1429A>T (p.Lys477Ter) c.1171A>T (p.Lys391Ter) c.273A>T n.1702A>T n.1669A>T | |
19 | g.11113728_11113729delinsCTGAATG | CA2573050603 | LDLR | c.1810_1811delinsCTGAATG (p.Lys604LeufsTer32) c.1552_1553delinsCTGAATG (p.Lys518LeufsTer32) c.1432_1433delinsCTGAATG (p.Lys478LeufsTer32) c.1806_1807delinsCTGAATG c.1048_1049delinsCTGAATG (p.Lys350LeufsTer32) c.1429_1430delinsCTGAATG (p.Lys477LeufsTer32) c.1171_1172delinsCTGAATG (p.Lys391LeufsTer32) c.273_274delinsCTGAATG n.1702_1703delinsCTGAATG n.1669_1670delinsCTGAATG | |
19 | g.11113729A= | CA2322772034 | LDLR | c.1811A= (p.Lys604=) c.1553A= (p.Lys518=) c.1433A= (p.Lys478=) c.1807A= c.1049A= (p.Lys350=) c.1430A= (p.Lys477=) c.1172A= (p.Lys391=) c.274A= n.1703A= n.1670A= | |
19 | g.11113729A>C | CA404086571 | LDLR | c.1811A>C (p.Lys604Thr) c.1553A>C (p.Lys518Thr) c.1433A>C (p.Lys478Thr) c.1807A>C c.1049A>C (p.Lys350Thr) c.1430A>C (p.Lys477Thr) c.1172A>C (p.Lys391Thr) c.274A>C n.1703A>C n.1670A>C | |
19 | g.11113729A>G | CA10585500 | LDLR | c.1811A>G (p.Lys604Arg) c.1553A>G (p.Lys518Arg) c.1433A>G (p.Lys478Arg) c.1807A>G c.1049A>G (p.Lys350Arg) c.1430A>G (p.Lys477Arg) c.1172A>G (p.Lys391Arg) c.274A>G n.1703A>G n.1670A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11113729A>T | CA404086572 | LDLR | c.1811A>T (p.Lys604Met) c.1553A>T (p.Lys518Met) c.1433A>T (p.Lys478Met) c.1807A>T c.1049A>T (p.Lys350Met) c.1430A>T (p.Lys477Met) c.1172A>T (p.Lys391Met) c.274A>T n.1703A>T n.1670A>T | |
19 | g.11113730G>A | CA505743313 | LDLR | c.1812G>A (p.Lys604=) c.1554G>A (p.Lys518=) c.1434G>A (p.Lys478=) c.1808G>A c.1050G>A (p.Lys350=) c.1431G>A (p.Lys477=) c.1173G>A (p.Lys391=) c.275G>A n.1704G>A n.1671G>A | ClinVar gnomAD v4 |
19 | g.11113730G>C | CA404086573 | LDLR | c.1812G>C (p.Lys604Asn) c.1554G>C (p.Lys518Asn) c.1434G>C (p.Lys478Asn) c.1808G>C c.1050G>C (p.Lys350Asn) c.1431G>C (p.Lys477Asn) c.1173G>C (p.Lys391Asn) c.275G>C n.1704G>C n.1671G>C | ClinVar |
19 | g.11113730G>T | CA404086574 | LDLR | c.1812G>T (p.Lys604Asn) c.1554G>T (p.Lys518Asn) c.1434G>T (p.Lys478Asn) c.1808G>T c.1050G>T (p.Lys350Asn) c.1431G>T (p.Lys477Asn) c.1173G>T (p.Lys391Asn) c.275G>T n.1704G>T n.1671G>T | |
19 | g.11113731C>A | CA10576309 | LDLR | c.1813C>A (p.Pro605Thr) c.1555C>A (p.Pro519Thr) c.1435C>A (p.Pro479Thr) c.1809C>A c.1051C>A (p.Pro351Thr) c.1432C>A (p.Pro478Thr) c.1174C>A (p.Pro392Thr) c.276C>A n.1705C>A n.1672C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11113731C= | CA2322772035 | LDLR | c.1813C= (p.Pro605=) c.1555C= (p.Pro519=) c.1435C= (p.Pro479=) c.1809C= c.1051C= (p.Pro351=) c.1432C= (p.Pro478=) c.1174C= (p.Pro392=) c.276C= n.1705C= n.1672C= | |
19 | g.11113731C>G | CA404086575 | LDLR | c.1813C>G (p.Pro605Ala) c.1555C>G (p.Pro519Ala) c.1435C>G (p.Pro479Ala) c.1809C>G c.1051C>G (p.Pro351Ala) c.1432C>G (p.Pro478Ala) c.1174C>G (p.Pro392Ala) c.276C>G n.1705C>G n.1672C>G | gnomAD v4 |
19 | g.11113731C>T | CA10585501 | LDLR | c.1813C>T (p.Pro605Ser) c.1555C>T (p.Pro519Ser) c.1435C>T (p.Pro479Ser) c.1809C>T c.1051C>T (p.Pro351Ser) c.1432C>T (p.Pro478Ser) c.1174C>T (p.Pro392Ser) c.276C>T n.1705C>T n.1672C>T | ClinVar dbSNP |
19 | g.11113731_11113732insACACCCAA | CA2813598416 | LDLR | c.1813_1814insACACCCAA (p.Pro605HisfsTer32) c.1555_1556insACACCCAA (p.Pro519HisfsTer32) c.1435_1436insACACCCAA (p.Pro479HisfsTer32) c.1809_1810insACACCCAA c.1051_1052insACACCCAA (p.Pro351HisfsTer32) c.1432_1433insACACCCAA (p.Pro478HisfsTer32) c.1174_1175insACACCCAA (p.Pro392HisfsTer32) c.276_277insACACCCAA n.1705_1706insACACCCAA n.1672_1673insACACCCAA | |
19 | g.11113731_11113732insACACCCAACA | CA2813598417 | LDLR | c.1813_1814insACACCCAACA (p.Pro605HisfsTer20) c.1555_1556insACACCCAACA (p.Pro519HisfsTer20) c.1435_1436insACACCCAACA (p.Pro479HisfsTer20) c.1809_1810insACACCCAACA c.1051_1052insACACCCAACA (p.Pro351HisfsTer20) c.1432_1433insACACCCAACA (p.Pro478HisfsTer20) c.1174_1175insACACCCAACA (p.Pro392HisfsTer20) c.276_277insACACCCAACA n.1705_1706insACACCCAACA n.1672_1673insACACCCAACA | |
19 | g.11113731_11113732insAAACACACCCAACA | CA2813598415 | LDLR | c.1813_1814insAAACACACCCAACA (p.Pro605GlnfsTer34) c.1555_1556insAAACACACCCAACA (p.Pro519GlnfsTer34) c.1435_1436insAAACACACCCAACA (p.Pro479GlnfsTer34) c.1809_1810insAAACACACCCAACA c.1051_1052insAAACACACCCAACA (p.Pro351GlnfsTer34) c.1432_1433insAAACACACCCAACA (p.Pro478GlnfsTer34) c.1174_1175insAAACACACCCAACA (p.Pro392GlnfsTer34) c.276_277insAAACACACCCAACA n.1705_1706insAAACACACCCAACA n.1672_1673insAAACACACCCAACA | |
19 | g.11113732C>A | CA404086576 | LDLR | c.1814C>A (p.Pro605Gln) c.1556C>A (p.Pro519Gln) c.1436C>A (p.Pro479Gln) c.1810C>A c.1052C>A (p.Pro351Gln) c.1433C>A (p.Pro478Gln) c.1175C>A (p.Pro392Gln) c.277C>A n.1706C>A n.1673C>A | |
19 | g.11113732C>G | CA404086577 | LDLR | c.1814C>G (p.Pro605Arg) c.1556C>G (p.Pro519Arg) c.1436C>G (p.Pro479Arg) c.1810C>G c.1052C>G (p.Pro351Arg) c.1433C>G (p.Pro478Arg) c.1175C>G (p.Pro392Arg) c.277C>G n.1706C>G n.1673C>G | |
19 | g.11113732C>T | CA404086578 | LDLR | c.1814C>T (p.Pro605Leu) c.1556C>T (p.Pro519Leu) c.1436C>T (p.Pro479Leu) c.1810C>T c.1052C>T (p.Pro351Leu) c.1433C>T (p.Pro478Leu) c.1175C>T (p.Pro392Leu) c.277C>T n.1706C>T n.1673C>T | |
19 | g.11113733A>C | CA505743314 | LDLR | c.1815A>C (p.Pro605=) c.1557A>C (p.Pro519=) c.1437A>C (p.Pro479=) c.1811A>C c.1053A>C (p.Pro351=) c.1434A>C (p.Pro478=) c.1176A>C (p.Pro392=) c.278A>C n.1707A>C n.1674A>C | |
19 | g.11113733A>G | CA505743315 | LDLR | c.1815A>G (p.Pro605=) c.1557A>G (p.Pro519=) c.1437A>G (p.Pro479=) c.1811A>G c.1053A>G (p.Pro351=) c.1434A>G (p.Pro478=) c.1176A>G (p.Pro392=) c.278A>G n.1707A>G n.1674A>G | |
19 | g.11113733A>T | CA505743316 | LDLR | c.1815A>T (p.Pro605=) c.1557A>T (p.Pro519=) c.1437A>T (p.Pro479=) c.1811A>T c.1053A>T (p.Pro351=) c.1434A>T (p.Pro478=) c.1176A>T (p.Pro392=) c.278A>T n.1707A>T n.1674A>T | |
19 | g.11113734A= | CA2322772036 | LDLR | c.1816A= (p.Arg606=) c.1558A= (p.Arg520=) c.1438A= (p.Arg480=) c.1812A= c.1054A= (p.Arg352=) c.1435A= (p.Arg479=) c.1177A= (p.Arg393=) c.279A= n.1708A= n.1675A= | |
19 | g.11113734A>C | CA505743317 | LDLR | c.1816A>C (p.Arg606=) c.1558A>C (p.Arg520=) c.1438A>C (p.Arg480=) c.1812A>C c.1054A>C (p.Arg352=) c.1435A>C (p.Arg479=) c.1177A>C (p.Arg393=) c.279A>C n.1708A>C n.1675A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11113734A>G | CA10585502 | LDLR | c.1816A>G (p.Arg606Gly) c.1558A>G (p.Arg520Gly) c.1438A>G (p.Arg480Gly) c.1812A>G c.1054A>G (p.Arg352Gly) c.1435A>G (p.Arg479Gly) c.1177A>G (p.Arg393Gly) c.279A>G n.1708A>G n.1675A>G | ClinVar dbSNP |
19 | g.11113734A>T | CA404086579 | LDLR | c.1816A>T (p.Arg606Trp) c.1558A>T (p.Arg520Trp) c.1438A>T (p.Arg480Trp) c.1812A>T c.1054A>T (p.Arg352Trp) c.1435A>T (p.Arg479Trp) c.1177A>T (p.Arg393Trp) c.279A>T n.1708A>T n.1675A>T | |
19 | g.11113735G>A | CA404086582 | LDLR | c.1817G>A (p.Arg606Lys) c.1559G>A (p.Arg520Lys) c.1439G>A (p.Arg480Lys) c.1813G>A c.1055G>A (p.Arg352Lys) c.1436G>A (p.Arg479Lys) c.1178G>A (p.Arg393Lys) c.280G>A n.1709G>A n.1676G>A | |
19 | g.11113735G>C | CA404086581 | LDLR | c.1817G>C (p.Arg606Thr) c.1559G>C (p.Arg520Thr) c.1439G>C (p.Arg480Thr) c.1813G>C c.1055G>C (p.Arg352Thr) c.1436G>C (p.Arg479Thr) c.1178G>C (p.Arg393Thr) c.280G>C n.1709G>C n.1676G>C | |
19 | g.11113735G>T | CA404086580 | LDLR | c.1817G>T (p.Arg606Met) c.1559G>T (p.Arg520Met) c.1439G>T (p.Arg480Met) c.1813G>T c.1055G>T (p.Arg352Met) c.1436G>T (p.Arg479Met) c.1178G>T (p.Arg393Met) c.280G>T n.1709G>T n.1676G>T | ClinVar |
19 | g.11113736G>A | CA505743318 | LDLR | c.1818G>A (p.Arg606=) c.1560G>A (p.Arg520=) c.1440G>A (p.Arg480=) c.1814G>A c.1056G>A (p.Arg352=) c.1437G>A (p.Arg479=) c.1179G>A (p.Arg393=) c.281G>A n.1710G>A n.1677G>A | |
19 | g.11113736G>C | CA404086584 | LDLR | c.1818G>C (p.Arg606Ser) c.1560G>C (p.Arg520Ser) c.1440G>C (p.Arg480Ser) c.1814G>C c.1056G>C (p.Arg352Ser) c.1437G>C (p.Arg479Ser) c.1179G>C (p.Arg393Ser) c.281G>C n.1710G>C n.1677G>C | |
19 | g.11113736G>T | CA404086583 | LDLR | c.1818G>T (p.Arg606Ser) c.1560G>T (p.Arg520Ser) c.1440G>T (p.Arg480Ser) c.1814G>T c.1056G>T (p.Arg352Ser) c.1437G>T (p.Arg479Ser) c.1179G>T (p.Arg393Ser) c.281G>T n.1710G>T n.1677G>T | |
19 | g.11113737G>A | CA10585503 | LDLR | c.1819G>A (p.Ala607Thr) c.1561G>A (p.Ala521Thr) c.1441G>A (p.Ala481Thr) c.1815G>A c.1057G>A (p.Ala353Thr) c.1438G>A (p.Ala480Thr) c.1180G>A (p.Ala394Thr) c.282G>A n.1711G>A n.1678G>A | ClinVar dbSNP COSMIC |
19 | g.11113737G>C | CA404086585 | LDLR | c.1819G>C (p.Ala607Pro) c.1561G>C (p.Ala521Pro) c.1441G>C (p.Ala481Pro) c.1815G>C c.1057G>C (p.Ala353Pro) c.1438G>C (p.Ala480Pro) c.1180G>C (p.Ala394Pro) c.282G>C n.1711G>C n.1678G>C | |
19 | g.11113737G= | CA2322772037 | LDLR | c.1819G= (p.Ala607=) c.1561G= (p.Ala521=) c.1441G= (p.Ala481=) c.1815G= c.1057G= (p.Ala353=) c.1438G= (p.Ala480=) c.1180G= (p.Ala394=) c.282G= n.1711G= n.1678G= | |
19 | g.11113737G>T | CA404086586 | LDLR | c.1819G>T (p.Ala607Ser) c.1561G>T (p.Ala521Ser) c.1441G>T (p.Ala481Ser) c.1815G>T c.1057G>T (p.Ala353Ser) c.1438G>T (p.Ala480Ser) c.1180G>T (p.Ala394Ser) c.282G>T n.1711G>T n.1678G>T | ClinVar dbSNP |
19 | g.11113737_11113738del | CA2573050604 | LDLR | c.1819_1820del (p.Ala607HisfsTer14) c.1561_1562del (p.Ala521HisfsTer14) c.1441_1442del (p.Ala481HisfsTer14) c.1815_1816del c.1057_1058del (p.Ala353HisfsTer14) c.1438_1439del (p.Ala480HisfsTer14) c.1180_1181del (p.Ala394HisfsTer14) c.282_283del n.1711_1712del n.1678_1679del | |
19 | g.11113738C>A | CA404086587 | LDLR | c.1820C>A (p.Ala607Asp) c.1562C>A (p.Ala521Asp) c.1442C>A (p.Ala481Asp) c.1816C>A c.1058C>A (p.Ala353Asp) c.1439C>A (p.Ala480Asp) c.1181C>A (p.Ala394Asp) c.283C>A n.1712C>A n.1679C>A | |
19 | g.11113738C= | CA2322772038 | LDLR | c.1820C= (p.Ala607=) c.1562C= (p.Ala521=) c.1442C= (p.Ala481=) c.1816C= c.1058C= (p.Ala353=) c.1439C= (p.Ala480=) c.1181C= (p.Ala394=) c.283C= n.1712C= n.1679C= | |
19 | g.11113738C>G | CA404086588 | LDLR | c.1820C>G (p.Ala607Gly) c.1562C>G (p.Ala521Gly) c.1442C>G (p.Ala481Gly) c.1816C>G c.1058C>G (p.Ala353Gly) c.1439C>G (p.Ala480Gly) c.1181C>G (p.Ala394Gly) c.283C>G n.1712C>G n.1679C>G | gnomAD v4 |
19 | g.11113738C>T | CA034778 | LDLR | c.1820C>T (p.Ala607Val) c.1562C>T (p.Ala521Val) c.1442C>T (p.Ala481Val) c.1816C>T c.1058C>T (p.Ala353Val) c.1439C>T (p.Ala480Val) c.1181C>T (p.Ala394Val) c.283C>T n.1712C>T n.1679C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113739C>A | CA505743319 | LDLR | c.1821C>A (p.Ala607=) c.1563C>A (p.Ala521=) c.1443C>A (p.Ala481=) c.1817C>A c.1059C>A (p.Ala353=) c.1440C>A (p.Ala480=) c.1182C>A (p.Ala394=) c.284C>A n.1713C>A n.1680C>A | |
19 | g.11113739C= | CA2322772039 | LDLR | c.1821C= (p.Ala607=) c.1563C= (p.Ala521=) c.1443C= (p.Ala481=) c.1817C= c.1059C= (p.Ala353=) c.1440C= (p.Ala480=) c.1182C= (p.Ala394=) c.284C= n.1713C= n.1680C= | |
19 | g.11113739C>G | CA505743320 | LDLR | c.1821C>G (p.Ala607=) c.1563C>G (p.Ala521=) c.1443C>G (p.Ala481=) c.1817C>G c.1059C>G (p.Ala353=) c.1440C>G (p.Ala480=) c.1182C>G (p.Ala394=) c.284C>G n.1713C>G n.1680C>G | |
19 | g.11113739C>T | CA505743321 | LDLR | c.1821C>T (p.Ala607=) c.1563C>T (p.Ala521=) c.1443C>T (p.Ala481=) c.1817C>T c.1059C>T (p.Ala353=) c.1440C>T (p.Ala480=) c.1182C>T (p.Ala394=) c.284C>T n.1713C>T n.1680C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11113740A= | CA2322772040 | LDLR | c.1822A= (p.Ile608=) c.1564A= (p.Ile522=) c.1444A= (p.Ile482=) c.1818A= c.1060A= (p.Ile354=) c.1441A= (p.Ile481=) c.1183A= (p.Ile395=) c.285A= n.1714A= n.1681A= | |
19 | g.11113740A>C | CA404086589 | LDLR | c.1822A>C (p.Ile608Leu) c.1564A>C (p.Ile522Leu) c.1444A>C (p.Ile482Leu) c.1818A>C c.1060A>C (p.Ile354Leu) c.1441A>C (p.Ile481Leu) c.1183A>C (p.Ile395Leu) c.285A>C n.1714A>C n.1681A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113740A>G | CA034793 | LDLR | c.1822A>G (p.Ile608Val) c.1564A>G (p.Ile522Val) c.1444A>G (p.Ile482Val) c.1818A>G c.1060A>G (p.Ile354Val) c.1441A>G (p.Ile481Val) c.1183A>G (p.Ile395Val) c.285A>G n.1714A>G n.1681A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113740A>T | CA404086590 | LDLR | c.1822A>T (p.Ile608Phe) c.1564A>T (p.Ile522Phe) c.1444A>T (p.Ile482Phe) c.1818A>T c.1060A>T (p.Ile354Phe) c.1441A>T (p.Ile481Phe) c.1183A>T (p.Ile395Phe) c.285A>T n.1714A>T n.1681A>T | |
19 | g.11113741T>A | CA404086591 | LDLR | c.1823T>A (p.Ile608Asn) c.1565T>A (p.Ile522Asn) c.1445T>A (p.Ile482Asn) c.1819T>A c.1061T>A (p.Ile354Asn) c.1442T>A (p.Ile481Asn) c.1184T>A (p.Ile395Asn) c.286T>A n.1715T>A n.1682T>A | |
19 | g.11113741T>C | CA404086592 | LDLR | c.1823T>C (p.Ile608Thr) c.1565T>C (p.Ile522Thr) c.1445T>C (p.Ile482Thr) c.1819T>C c.1061T>C (p.Ile354Thr) c.1442T>C (p.Ile481Thr) c.1184T>C (p.Ile395Thr) c.286T>C n.1715T>C n.1682T>C | |
19 | g.11113741T>G | CA404086593 | LDLR | c.1823T>G (p.Ile608Ser) c.1565T>G (p.Ile522Ser) c.1445T>G (p.Ile482Ser) c.1819T>G c.1061T>G (p.Ile354Ser) c.1442T>G (p.Ile481Ser) c.1184T>G (p.Ile395Ser) c.286T>G n.1715T>G n.1682T>G | ClinVar dbSNP |
19 | g.11113741T= | CA2322772042 | LDLR | c.1823T= (p.Ile608=) c.1565T= (p.Ile522=) c.1445T= (p.Ile482=) c.1819T= c.1061T= (p.Ile354=) c.1442T= (p.Ile481=) c.1184T= (p.Ile395=) c.286T= n.1715T= n.1682T= | |
19 | g.11113741_11113742delinsTC | CA2322772041 | LDLR | c.1823_1824delinsTC (p.Ile608=) c.1565_1566delinsTC (p.Ile522=) c.1445_1446delinsTC (p.Ile482=) c.1819_1820delinsTC c.1061_1062delinsTC (p.Ile354=) c.1442_1443delinsTC (p.Ile481=) c.1184_1185delinsTC (p.Ile395=) c.286_287delinsTC n.1715_1716delinsTC n.1682_1683delinsTC | |
19 | g.11113742del | CA645373234 | LDLR | c.1824del (p.Ile608MetfsTer26) c.1566del (p.Ile522MetfsTer26) c.1446del (p.Ile482MetfsTer26) c.1820del c.1062del (p.Ile354MetfsTer26) c.1443del (p.Ile481MetfsTer26) c.1185del (p.Ile395MetfsTer26) c.287del n.1716del n.1683del | ClinVar dbSNP |
19 | g.11113742C>A | CA505743322 | LDLR | c.1824C>A (p.Ile608=) c.1566C>A (p.Ile522=) c.1446C>A (p.Ile482=) c.1820C>A c.1062C>A (p.Ile354=) c.1443C>A (p.Ile481=) c.1185C>A (p.Ile395=) c.287C>A n.1716C>A n.1683C>A | gnomAD v4 |
19 | g.11113742C= | CA2322772043 | LDLR | c.1824C= (p.Ile608=) c.1566C= (p.Ile522=) c.1446C= (p.Ile482=) c.1820C= c.1062C= (p.Ile354=) c.1443C= (p.Ile481=) c.1185C= (p.Ile395=) c.287C= n.1716C= n.1683C= | |
19 | g.11113742C>G | CA404086594 | LDLR | c.1824C>G (p.Ile608Met) c.1566C>G (p.Ile522Met) c.1446C>G (p.Ile482Met) c.1820C>G c.1062C>G (p.Ile354Met) c.1443C>G (p.Ile481Met) c.1185C>G (p.Ile395Met) c.287C>G n.1716C>G n.1683C>G | |
19 | g.11113742C>T | CA034809 | LDLR | c.1824C>T (p.Ile608=) c.1566C>T (p.Ile522=) c.1446C>T (p.Ile482=) c.1820C>T c.1062C>T (p.Ile354=) c.1443C>T (p.Ile481=) c.1185C>T (p.Ile395=) c.287C>T n.1716C>T n.1683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113742_11113745delinsCGTG | CA2322772045 | LDLR | c.1824_1827delinsCGTG (p.Ile608=) c.1566_1569delinsCGTG (p.Ile522=) c.1446_1449delinsCGTG (p.Ile482=) c.1820_1823delinsCGTG c.1062_1065delinsCGTG (p.Ile354=) c.1443_1446delinsCGTG (p.Ile481=) c.1185_1188delinsCGTG (p.Ile395=) c.287_290delinsCGTG n.1716_1719delinsCGTG n.1683_1686delinsCGTG | |
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.11113743G>A | CA023525 | LDLR | c.1825G>A (p.Val609Met) c.1567G>A (p.Val523Met) c.1447G>A (p.Val483Met) c.1821G>A c.1063G>A (p.Val355Met) c.1444G>A (p.Val482Met) c.1186G>A (p.Val396Met) c.288G>A n.1717G>A n.1684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113743G>C | CA034835 | LDLR | c.1825G>C (p.Val609Leu) c.1567G>C (p.Val523Leu) c.1447G>C (p.Val483Leu) c.1821G>C c.1063G>C (p.Val355Leu) c.1444G>C (p.Val482Leu) c.1186G>C (p.Val396Leu) c.288G>C n.1717G>C n.1684G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11113743G= | CA2322772046 | LDLR | c.1825G= (p.Val609=) c.1567G= (p.Val523=) c.1447G= (p.Val483=) c.1821G= c.1063G= (p.Val355=) c.1444G= (p.Val482=) c.1186G= (p.Val396=) c.288G= n.1717G= n.1684G= | |
19 | g.11113743G>T | CA10585504 | LDLR | c.1825G>T (p.Val609Leu) c.1567G>T (p.Val523Leu) c.1447G>T (p.Val483Leu) c.1821G>T c.1063G>T (p.Val355Leu) c.1444G>T (p.Val482Leu) c.1186G>T (p.Val396Leu) c.288G>T n.1717G>T n.1684G>T | ClinVar dbSNP |
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 |