| 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.11113376_11113417delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC | CA2322771760 | LDLR | c.1543_1584delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val515=) c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val429=) c.1165_1206delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val389=) c.1539_1580delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val261=) c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val388=) c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val302=) c.6_47delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.284_325delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC c.765_806delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.1435_1476delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC n.1402_1443delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC | |
| 19 | g.11113382_11113422del | CA10585388 | LDLR | c.1549_1589del (p.Ala517Ter) c.1291_1331del (p.Ala431Ter) c.1171_1211del (p.Ala391Ter) c.1545_1585del c.787_827del (p.Ala263Ter) c.1168_1208del (p.Ala390Ter) c.910_950del (p.Ala304Ter) c.12_52del n.290_330del c.771_811del n.1441_1481del n.1408_1448del | ClinVar dbSNP |
| 19 | g.11113382G>A | CA023445 | LDLR | c.1549G>A (p.Ala517Thr) c.1291G>A (p.Ala431Thr) c.1171G>A (p.Ala391Thr) c.1545G>A c.787G>A (p.Ala263Thr) c.1168G>A (p.Ala390Thr) c.910G>A (p.Ala304Thr) c.12G>A n.290G>A c.771G>A n.1441G>A n.1408G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113382G>C | CA023446 | LDLR | c.1549G>C (p.Ala517Pro) c.1291G>C (p.Ala431Pro) c.1171G>C (p.Ala391Pro) c.1545G>C c.787G>C (p.Ala263Pro) c.1168G>C (p.Ala390Pro) c.910G>C (p.Ala304Pro) c.12G>C n.290G>C c.771G>C n.1441G>C n.1408G>C | ClinVar dbSNP |
| 19 | g.11113382G= | CA2322771765 | LDLR | c.1549G= (p.Ala517=) c.1291G= (p.Ala431=) c.1171G= (p.Ala391=) c.1545G= c.787G= (p.Ala263=) c.1168G= (p.Ala390=) c.910G= (p.Ala304=) c.12G= n.290G= c.771G= n.1441G= n.1408G= | |
| 19 | g.11113382G>T | CA404084988 | LDLR | c.1549G>T (p.Ala517Ser) c.1291G>T (p.Ala431Ser) c.1171G>T (p.Ala391Ser) c.1545G>T c.787G>T (p.Ala263Ser) c.1168G>T (p.Ala390Ser) c.910G>T (p.Ala304Ser) c.12G>T n.290G>T c.771G>T n.1441G>T n.1408G>T | dbSNP gnomAD v2 |
| 19 | g.11113383C>A | CA404084991 | LDLR | c.1550C>A (p.Ala517Asp) c.1292C>A (p.Ala431Asp) c.1172C>A (p.Ala391Asp) c.1546C>A c.788C>A (p.Ala263Asp) c.1169C>A (p.Ala390Asp) c.911C>A (p.Ala304Asp) c.13C>A n.291C>A c.772C>A n.1442C>A n.1409C>A | |
| 19 | g.11113383C>G | CA404084992 | LDLR | c.1550C>G (p.Ala517Gly) c.1292C>G (p.Ala431Gly) c.1172C>G (p.Ala391Gly) c.1546C>G c.788C>G (p.Ala263Gly) c.1169C>G (p.Ala390Gly) c.911C>G (p.Ala304Gly) c.13C>G n.291C>G c.772C>G n.1442C>G n.1409C>G | ClinVar |
| 19 | g.11113383C>T | CA404084995 | LDLR | c.1550C>T (p.Ala517Val) c.1292C>T (p.Ala431Val) c.1172C>T (p.Ala391Val) c.1546C>T c.788C>T (p.Ala263Val) c.1169C>T (p.Ala390Val) c.911C>T (p.Ala304Val) c.13C>T n.291C>T c.772C>T n.1442C>T n.1409C>T | |
| 19 | g.11113384T>A | CA505743212 | LDLR | c.1551T>A (p.Ala517=) c.1293T>A (p.Ala431=) c.1173T>A (p.Ala391=) c.1547T>A c.789T>A (p.Ala263=) c.1170T>A (p.Ala390=) c.912T>A (p.Ala304=) c.14T>A n.292T>A c.773T>A n.1443T>A n.1410T>A | |
| 19 | g.11113384T>C | CA505743213 | LDLR | c.1551T>C (p.Ala517=) c.1293T>C (p.Ala431=) c.1173T>C (p.Ala391=) c.1547T>C c.789T>C (p.Ala263=) c.1170T>C (p.Ala390=) c.912T>C (p.Ala304=) c.14T>C n.292T>C c.773T>C n.1443T>C n.1410T>C | |
| 19 | g.11113384T>G | CA505743214 | LDLR | c.1551T>G (p.Ala517=) c.1293T>G (p.Ala431=) c.1173T>G (p.Ala391=) c.1547T>G c.789T>G (p.Ala263=) c.1170T>G (p.Ala390=) c.912T>G (p.Ala304=) c.14T>G n.292T>G c.773T>G n.1443T>G n.1410T>G | |
| 19 | g.11113385C>A | CA404084997 | LDLR | c.1552C>A (p.Leu518Met) c.1294C>A (p.Leu432Met) c.1174C>A (p.Leu392Met) c.1548C>A c.790C>A (p.Leu264Met) c.1171C>A (p.Leu391Met) c.913C>A (p.Leu305Met) c.15C>A n.293C>A c.774C>A n.1444C>A n.1411C>A | |
| 19 | g.11113385C= | CA2322771766 | LDLR | c.1552C= (p.Leu518=) c.1294C= (p.Leu432=) c.1174C= (p.Leu392=) c.1548C= c.790C= (p.Leu264=) c.1171C= (p.Leu391=) c.913C= (p.Leu305=) c.15C= n.293C= c.774C= n.1444C= n.1411C= | |
| 19 | g.11113385C>G | CA023448 | LDLR | c.1552C>G (p.Leu518Val) c.1294C>G (p.Leu432Val) c.1174C>G (p.Leu392Val) c.1548C>G c.790C>G (p.Leu264Val) c.1171C>G (p.Leu391Val) c.913C>G (p.Leu305Val) c.15C>G n.293C>G c.774C>G n.1444C>G n.1411C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113385C>T | CA505743215 | LDLR | c.1552C>T (p.Leu518=) c.1294C>T (p.Leu432=) c.1174C>T (p.Leu392=) c.1548C>T c.790C>T (p.Leu264=) c.1171C>T (p.Leu391=) c.913C>T (p.Leu305=) c.15C>T n.293C>T c.774C>T n.1444C>T n.1411C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113386T>A | CA404085008 | LDLR | c.1553T>A (p.Leu518Gln) c.1295T>A (p.Leu432Gln) c.1175T>A (p.Leu392Gln) c.1549T>A c.791T>A (p.Leu264Gln) c.1172T>A (p.Leu391Gln) c.914T>A (p.Leu305Gln) c.16T>A n.294T>A c.775T>A n.1445T>A n.1412T>A | |
| 19 | g.11113386T>C | CA10585389 | LDLR | c.1553T>C (p.Leu518Pro) c.1295T>C (p.Leu432Pro) c.1175T>C (p.Leu392Pro) c.1549T>C c.791T>C (p.Leu264Pro) c.1172T>C (p.Leu391Pro) c.914T>C (p.Leu305Pro) c.16T>C n.294T>C c.775T>C n.1445T>C n.1412T>C | ClinVar dbSNP |
| 19 | g.11113386T>G | CA404085012 | LDLR | c.1553T>G (p.Leu518Arg) c.1295T>G (p.Leu432Arg) c.1175T>G (p.Leu392Arg) c.1549T>G c.791T>G (p.Leu264Arg) c.1172T>G (p.Leu391Arg) c.914T>G (p.Leu305Arg) c.16T>G n.294T>G c.775T>G n.1445T>G n.1412T>G | |
| 19 | g.11113386T= | CA2322771767 | LDLR | c.1553T= (p.Leu518=) c.1295T= (p.Leu432=) c.1175T= (p.Leu392=) c.1549T= c.791T= (p.Leu264=) c.1172T= (p.Leu391=) c.914T= (p.Leu305=) c.16T= n.294T= c.775T= n.1445T= n.1412T= | |
| 19 | g.11113386_11113389delinsTGGA | CA2322771768 | LDLR | c.1553_1556delinsTGGA (p.Leu518=) c.1295_1298delinsTGGA (p.Leu432=) c.1175_1178delinsTGGA (p.Leu392=) c.1549_1552delinsTGGA c.791_794delinsTGGA (p.Leu264=) c.1172_1175delinsTGGA (p.Leu391=) c.914_917delinsTGGA (p.Leu305=) c.16_19delinsTGGA n.294_297delinsTGGA c.775_778delinsTGGA n.1445_1448delinsTGGA n.1412_1415delinsTGGA | |
| 19 | g.11113387G>A | CA505743216 | LDLR | c.1554G>A (p.Leu518=) c.1296G>A (p.Leu432=) c.1176G>A (p.Leu392=) c.1550G>A c.792G>A (p.Leu264=) c.1173G>A (p.Leu391=) c.915G>A (p.Leu305=) c.17G>A n.295G>A c.776G>A n.1446G>A n.1413G>A | |
| 19 | g.11113387G>C | CA505743217 | LDLR | c.1554G>C (p.Leu518=) c.1296G>C (p.Leu432=) c.1176G>C (p.Leu392=) c.1550G>C c.792G>C (p.Leu264=) c.1173G>C (p.Leu391=) c.915G>C (p.Leu305=) c.17G>C n.295G>C c.776G>C n.1446G>C n.1413G>C | |
| 19 | g.11113387G>T | CA505743218 | LDLR | c.1554G>T (p.Leu518=) c.1296G>T (p.Leu432=) c.1176G>T (p.Leu392=) c.1550G>T c.792G>T (p.Leu264=) c.1173G>T (p.Leu391=) c.915G>T (p.Leu305=) c.17G>T n.295G>T c.776G>T n.1446G>T n.1413G>T | |
| 19 | g.11113387_11113389del | CA10585390 | LDLR | c.1554_1556del (p.Asp519del) c.1296_1298del (p.Asp433del) c.1176_1178del (p.Asp393del) c.1550_1552del c.792_794del (p.Asp265del) c.1173_1175del (p.Asp392del) c.915_917del (p.Asp306del) c.17_19del n.295_297del c.776_778del n.1446_1448del n.1413_1415del | ClinVar dbSNP |
| 19 | g.11113388G>A | CA404085015 | LDLR | c.1555G>A (p.Asp519Asn) c.1297G>A (p.Asp433Asn) c.1177G>A (p.Asp393Asn) c.1551G>A c.793G>A (p.Asp265Asn) c.1174G>A (p.Asp392Asn) c.916G>A (p.Asp306Asn) c.18G>A n.296G>A c.777G>A n.1447G>A n.1414G>A | |
| 19 | g.11113388G>C | CA023450 | LDLR | c.1555G>C (p.Asp519His) c.1297G>C (p.Asp433His) c.1177G>C (p.Asp393His) c.1551G>C c.793G>C (p.Asp265His) c.1174G>C (p.Asp392His) c.916G>C (p.Asp306His) c.18G>C n.296G>C c.777G>C n.1447G>C n.1414G>C | ClinVar dbSNP |
| 19 | g.11113388G= | CA2322771769 | LDLR | c.1555G= (p.Asp519=) c.1297G= (p.Asp433=) c.1177G= (p.Asp393=) c.1551G= c.793G= (p.Asp265=) c.1174G= (p.Asp392=) c.916G= (p.Asp306=) c.18G= n.296G= c.777G= n.1447G= n.1414G= | |
| 19 | g.11113388G>T | CA10585391 | LDLR | c.1555G>T (p.Asp519Tyr) c.1297G>T (p.Asp433Tyr) c.1177G>T (p.Asp393Tyr) c.1551G>T c.793G>T (p.Asp265Tyr) c.1174G>T (p.Asp392Tyr) c.916G>T (p.Asp306Tyr) c.18G>T n.296G>T c.777G>T n.1447G>T n.1414G>T | ClinVar dbSNP |
| 19 | g.11113389A>C | CA404085020 | LDLR | c.1556A>C (p.Asp519Ala) c.1298A>C (p.Asp433Ala) c.1178A>C (p.Asp393Ala) c.1552A>C c.794A>C (p.Asp265Ala) c.1175A>C (p.Asp392Ala) c.917A>C (p.Asp306Ala) c.19A>C n.297A>C c.778A>C n.1448A>C n.1415A>C | ClinVar gnomAD v4 |
| 19 | g.11113389A>G | CA404085022 | LDLR | c.1556A>G (p.Asp519Gly) c.1298A>G (p.Asp433Gly) c.1178A>G (p.Asp393Gly) c.1552A>G c.794A>G (p.Asp265Gly) c.1175A>G (p.Asp392Gly) c.917A>G (p.Asp306Gly) c.19A>G n.297A>G c.778A>G n.1448A>G n.1415A>G | gnomAD v4 |
| 19 | g.11113389A>T | CA404085025 | LDLR | c.1556A>T (p.Asp519Val) c.1298A>T (p.Asp433Val) c.1178A>T (p.Asp393Val) c.1552A>T c.794A>T (p.Asp265Val) c.1175A>T (p.Asp392Val) c.917A>T (p.Asp306Val) c.19A>T n.297A>T c.778A>T n.1448A>T n.1415A>T | ClinVar |
| 19 | g.11113390C>A | CA404085029 | LDLR | c.1557C>A (p.Asp519Glu) c.1299C>A (p.Asp433Glu) c.1179C>A (p.Asp393Glu) c.1553C>A c.795C>A (p.Asp265Glu) c.1176C>A (p.Asp392Glu) c.918C>A (p.Asp306Glu) c.20C>A n.298C>A c.779C>A n.1449C>A n.1416C>A | |
| 19 | g.11113390C= | CA2322771770 | LDLR | c.1557C= (p.Asp519=) c.1299C= (p.Asp433=) c.1179C= (p.Asp393=) c.1553C= c.795C= (p.Asp265=) c.1176C= (p.Asp392=) c.918C= (p.Asp306=) c.20C= n.298C= c.779C= n.1449C= n.1416C= | |
| 19 | g.11113390C>G | CA033475 | LDLR | c.1557C>G (p.Asp519Glu) c.1299C>G (p.Asp433Glu) c.1179C>G (p.Asp393Glu) c.1553C>G c.795C>G (p.Asp265Glu) c.1176C>G (p.Asp392Glu) c.918C>G (p.Asp306Glu) c.20C>G n.298C>G c.779C>G n.1449C>G n.1416C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113390C>T | CA505743219 | LDLR | c.1557C>T (p.Asp519=) c.1299C>T (p.Asp433=) c.1179C>T (p.Asp393=) c.1553C>T c.795C>T (p.Asp265=) c.1176C>T (p.Asp392=) c.918C>T (p.Asp306=) c.20C>T n.298C>T c.779C>T n.1449C>T n.1416C>T | dbSNP gnomAD v4 |
| 19 | g.11113391A= | CA2322771771 | LDLR | c.1558A= (p.Thr520=) c.1300A= (p.Thr434=) c.1180A= (p.Thr394=) c.1554A= c.796A= (p.Thr266=) c.1177A= (p.Thr393=) c.919A= (p.Thr307=) c.21A= n.299A= c.780A= n.1450A= n.1417A= | |
| 19 | g.11113391A>C | CA404085034 | LDLR | c.1558A>C (p.Thr520Pro) c.1300A>C (p.Thr434Pro) c.1180A>C (p.Thr394Pro) c.1554A>C c.796A>C (p.Thr266Pro) c.1177A>C (p.Thr393Pro) c.919A>C (p.Thr307Pro) c.21A>C n.299A>C c.780A>C n.1450A>C n.1417A>C | ClinVar dbSNP |
| 19 | g.11113391A>G | CA404085039 | LDLR | c.1558A>G (p.Thr520Ala) c.1300A>G (p.Thr434Ala) c.1180A>G (p.Thr394Ala) c.1554A>G c.796A>G (p.Thr266Ala) c.1177A>G (p.Thr393Ala) c.919A>G (p.Thr307Ala) c.21A>G n.299A>G c.780A>G n.1450A>G n.1417A>G | gnomAD v4 |
| 19 | g.11113391A>T | CA404085031 | LDLR | c.1558A>T (p.Thr520Ser) c.1300A>T (p.Thr434Ser) c.1180A>T (p.Thr394Ser) c.1554A>T c.796A>T (p.Thr266Ser) c.1177A>T (p.Thr393Ser) c.919A>T (p.Thr307Ser) c.21A>T n.299A>T c.780A>T n.1450A>T n.1417A>T | |
| 19 | g.11113392C>A | CA10585392 | LDLR | c.1559C>A (p.Thr520Lys) c.1301C>A (p.Thr434Lys) c.1181C>A (p.Thr394Lys) c.1555C>A c.797C>A (p.Thr266Lys) c.1178C>A (p.Thr393Lys) c.920C>A (p.Thr307Lys) c.22C>A n.300C>A c.781C>A n.1451C>A n.1418C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113392C= | CA2322771773 | LDLR | c.1559C= (p.Thr520=) c.1301C= (p.Thr434=) c.1181C= (p.Thr394=) c.1555C= c.797C= (p.Thr266=) c.1178C= (p.Thr393=) c.920C= (p.Thr307=) c.22C= n.300C= c.781C= n.1451C= n.1418C= | |
| 19 | g.11113392C>G | CA10585393 | LDLR | c.1559C>G (p.Thr520Arg) c.1301C>G (p.Thr434Arg) c.1181C>G (p.Thr394Arg) c.1555C>G c.797C>G (p.Thr266Arg) c.1178C>G (p.Thr393Arg) c.920C>G (p.Thr307Arg) c.22C>G n.300C>G c.781C>G n.1451C>G n.1418C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113392C>T | CA033501 | LDLR | c.1559C>T (p.Thr520Met) c.1301C>T (p.Thr434Met) c.1181C>T (p.Thr394Met) c.1555C>T c.797C>T (p.Thr266Met) c.1178C>T (p.Thr393Met) c.920C>T (p.Thr307Met) c.22C>T n.300C>T c.781C>T n.1451C>T n.1418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11113392_11113393delinsCG | CA2322771772 | LDLR | c.1559_1560delinsCG (p.Thr520=) c.1301_1302delinsCG (p.Thr434=) c.1181_1182delinsCG (p.Thr394=) c.1555_1556delinsCG c.797_798delinsCG (p.Thr266=) c.1178_1179delinsCG (p.Thr393=) c.920_921delinsCG (p.Thr307=) c.22_23delinsCG n.300_301delinsCG c.781_782delinsCG n.1451_1452delinsCG n.1418_1419delinsCG | |
| 19 | g.11113393G>A | CA033520 | LDLR | c.1560G>A (p.Thr520=) c.1302G>A (p.Thr434=) c.1182G>A (p.Thr394=) c.1556G>A c.798G>A (p.Thr266=) c.1179G>A (p.Thr393=) c.921G>A (p.Thr307=) c.23G>A n.301G>A c.782G>A n.1452G>A n.1419G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |