| 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.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 | 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= |