| 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.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.11113412_11113425del | CA2497030061 | LDLR | c.1579_1592del (p.Ile527ProfsTer12) c.1321_1334del (p.Ile441ProfsTer12) c.1201_1214del (p.Ile401ProfsTer12) c.1575_1588del c.817_830del (p.Ile273ProfsTer12) c.1198_1211del (p.Ile400ProfsTer12) c.940_953del (p.Ile314ProfsTer12) c.42_55del n.320_333del c.801_814del n.1471_1484del n.1438_1451del | |
| 19 | g.11113420_11113421delinsGT | CA2322771795 | LDLR | c.1587_1588delinsGT (p.Trp529=) c.1329_1330delinsGT (p.Trp443=) c.1209_1210delinsGT (p.Trp403=) c.1583_1584delinsGT c.825_826delinsGT (p.Trp275=) c.1206_1207delinsGT (p.Trp402=) c.948_949delinsGT (p.Trp316=) c.50_51delinsGT n.328_329delinsGT c.809_810delinsGT n.1479_1480delinsGT n.1446_1447delinsGT | |
| 19 | g.11113421del | CA16602329 | LDLR | c.1588del (p.Ser530LeufsTer7) c.1330del (p.Ser444LeufsTer7) c.1210del (p.Ser404LeufsTer7) c.1584del c.826del (p.Ser276LeufsTer7) c.1207del (p.Ser403LeufsTer7) c.949del (p.Ser317LeufsTer7) c.51del n.329del c.810del n.1480del n.1447del | ClinVar dbSNP |
| 19 | g.11113421T>A | CA404085240 | LDLR | c.1588T>A (p.Ser530Thr) c.1330T>A (p.Ser444Thr) c.1210T>A (p.Ser404Thr) c.1584T>A c.826T>A (p.Ser276Thr) c.1207T>A (p.Ser403Thr) c.949T>A (p.Ser317Thr) c.51T>A n.329T>A c.810T>A n.1480T>A n.1447T>A | |
| 19 | g.11113421T>C | CA10576304 | LDLR | c.1588T>C (p.Ser530Pro) c.1330T>C (p.Ser444Pro) c.1210T>C (p.Ser404Pro) c.1584T>C c.826T>C (p.Ser276Pro) c.1207T>C (p.Ser403Pro) c.949T>C (p.Ser317Pro) c.51T>C n.329T>C c.810T>C n.1480T>C n.1447T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113421T>G | CA404085244 | LDLR | c.1588T>G (p.Ser530Ala) c.1330T>G (p.Ser444Ala) c.1210T>G (p.Ser404Ala) c.1584T>G c.826T>G (p.Ser276Ala) c.1207T>G (p.Ser403Ala) c.949T>G (p.Ser317Ala) c.51T>G n.329T>G c.810T>G n.1480T>G n.1447T>G | |
| 19 | g.11113421T= | CA2322771796 | LDLR | c.1588T= (p.Ser530=) c.1330T= (p.Ser444=) c.1210T= (p.Ser404=) c.1584T= c.826T= (p.Ser276=) c.1207T= (p.Ser403=) c.949T= (p.Ser317=) c.51T= n.329T= c.810T= n.1480T= n.1447T= | |
| 19 | g.11113422C>A | CA404085248 | LDLR | c.1589C>A (p.Ser530Tyr) c.1331C>A (p.Ser444Tyr) c.1211C>A (p.Ser404Tyr) c.1585C>A c.827C>A (p.Ser276Tyr) c.1208C>A (p.Ser403Tyr) c.950C>A (p.Ser317Tyr) c.52C>A n.330C>A c.811C>A n.1481C>A n.1448C>A | gnomAD v4 |
| 19 | g.11113422C>G | CA404085251 | LDLR | c.1589C>G (p.Ser530Cys) c.1331C>G (p.Ser444Cys) c.1211C>G (p.Ser404Cys) c.1585C>G c.827C>G (p.Ser276Cys) c.1208C>G (p.Ser403Cys) c.950C>G (p.Ser317Cys) c.52C>G n.330C>G c.811C>G n.1481C>G n.1448C>G | |
| 19 | g.11113422C>T | CA404085252 | LDLR | c.1589C>T (p.Ser530Phe) c.1331C>T (p.Ser444Phe) c.1211C>T (p.Ser404Phe) c.1585C>T c.827C>T (p.Ser276Phe) c.1208C>T (p.Ser403Phe) c.950C>T (p.Ser317Phe) c.52C>T n.330C>T c.811C>T n.1481C>T n.1448C>T | ClinVar dbSNP |
| 19 | g.11113423T>A | CA505743245 | LDLR | c.1590T>A (p.Ser530=) c.1332T>A (p.Ser444=) c.1212T>A (p.Ser404=) c.1586T>A c.828T>A (p.Ser276=) c.1209T>A (p.Ser403=) c.951T>A (p.Ser317=) c.53T>A n.331T>A c.812T>A n.1482T>A n.1449T>A | |
| 19 | g.11113423T>C | CA505743246 | LDLR | c.1590T>C (p.Ser530=) c.1332T>C (p.Ser444=) c.1212T>C (p.Ser404=) c.1586T>C c.828T>C (p.Ser276=) c.1209T>C (p.Ser403=) c.951T>C (p.Ser317=) c.53T>C n.331T>C c.812T>C n.1482T>C n.1449T>C | |
| 19 | g.11113423T>G | CA505743247 | LDLR | c.1590T>G (p.Ser530=) c.1332T>G (p.Ser444=) c.1212T>G (p.Ser404=) c.1586T>G c.828T>G (p.Ser276=) c.1209T>G (p.Ser403=) c.951T>G (p.Ser317=) c.53T>G n.331T>G c.812T>G n.1482T>G n.1449T>G | |
| 19 | g.11113423dup | CA2695228173 | LDLR | c.1590dup (p.Asp531Ter) c.1332dup (p.Asp445Ter) c.1212dup (p.Asp405Ter) c.1586dup c.828dup (p.Asp277Ter) c.1209dup (p.Asp404Ter) c.951dup (p.Asp318Ter) c.53dup n.331dup c.812dup n.1482dup n.1449dup | |
| 19 | g.11113424G>A | CA404085260 | LDLR | c.1591G>A (p.Asp531Asn) c.1333G>A (p.Asp445Asn) c.1213G>A (p.Asp405Asn) c.1587G>A c.829G>A (p.Asp277Asn) c.1210G>A (p.Asp404Asn) c.952G>A (p.Asp318Asn) c.54G>A n.332G>A c.813G>A n.1483G>A n.1450G>A | |
| 19 | g.11113424G>C | CA404085256 | LDLR | c.1591G>C (p.Asp531His) c.1333G>C (p.Asp445His) c.1213G>C (p.Asp405His) c.1587G>C c.829G>C (p.Asp277His) c.1210G>C (p.Asp404His) c.952G>C (p.Asp318His) c.54G>C n.332G>C c.813G>C n.1483G>C n.1450G>C | |
| 19 | g.11113424G>T | CA404085259 | LDLR | c.1591G>T (p.Asp531Tyr) c.1333G>T (p.Asp445Tyr) c.1213G>T (p.Asp405Tyr) c.1587G>T c.829G>T (p.Asp277Tyr) c.1210G>T (p.Asp404Tyr) c.952G>T (p.Asp318Tyr) c.54G>T n.332G>T c.813G>T n.1483G>T n.1450G>T | ClinVar |
| 19 | g.11113425A>C | CA404085264 | LDLR | c.1592A>C (p.Asp531Ala) c.1334A>C (p.Asp445Ala) c.1214A>C (p.Asp405Ala) c.1588A>C c.830A>C (p.Asp277Ala) c.1211A>C (p.Asp404Ala) c.953A>C (p.Asp318Ala) c.55A>C n.333A>C c.814A>C n.1484A>C n.1451A>C | |
| 19 | g.11113425A>G | CA404085266 | LDLR | c.1592A>G (p.Asp531Gly) c.1334A>G (p.Asp445Gly) c.1214A>G (p.Asp405Gly) c.1588A>G c.830A>G (p.Asp277Gly) c.1211A>G (p.Asp404Gly) c.953A>G (p.Asp318Gly) c.55A>G n.333A>G c.814A>G n.1484A>G n.1451A>G | |
| 19 | g.11113425A>T | CA404085269 | LDLR | c.1592A>T (p.Asp531Val) c.1334A>T (p.Asp445Val) c.1214A>T (p.Asp405Val) c.1588A>T c.830A>T (p.Asp277Val) c.1211A>T (p.Asp404Val) c.953A>T (p.Asp318Val) c.55A>T n.333A>T c.814A>T n.1484A>T n.1451A>T | |
| 19 | g.11113425_11113426delinsAC | CA2322771797 | LDLR | c.1592_1593delinsAC (p.Asp531=) c.1334_1335delinsAC (p.Asp445=) c.1214_1215delinsAC (p.Asp405=) c.1588_1589delinsAC c.830_831delinsAC (p.Asp277=) c.1211_1212delinsAC (p.Asp404=) c.953_954delinsAC (p.Asp318=) c.55_56delinsAC n.333_334delinsAC c.814_815delinsAC n.1484_1485delinsAC n.1451_1452delinsAC | |
| 19 | g.11113426C>A | CA033606 | LDLR | c.1593C>A (p.Asp531Glu) c.1335C>A (p.Asp445Glu) c.1215C>A (p.Asp405Glu) c.1589C>A c.831C>A (p.Asp277Glu) c.1212C>A (p.Asp404Glu) c.954C>A (p.Asp318Glu) c.56C>A n.334C>A c.815C>A n.1485C>A n.1452C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113426C= | CA2322771798 | LDLR | c.1593C= (p.Asp531=) c.1335C= (p.Asp445=) c.1215C= (p.Asp405=) c.1589C= c.831C= (p.Asp277=) c.1212C= (p.Asp404=) c.954C= (p.Asp318=) c.56C= n.334C= c.815C= n.1485C= n.1452C= | |
| 19 | g.11113426C>G | CA404085273 | LDLR | c.1593C>G (p.Asp531Glu) c.1335C>G (p.Asp445Glu) c.1215C>G (p.Asp405Glu) c.1589C>G c.831C>G (p.Asp277Glu) c.1212C>G (p.Asp404Glu) c.954C>G (p.Asp318Glu) c.56C>G n.334C>G c.815C>G n.1485C>G n.1452C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113426C>T | CA505743250 | LDLR | c.1593C>T (p.Asp531=) c.1335C>T (p.Asp445=) c.1215C>T (p.Asp405=) c.1589C>T c.831C>T (p.Asp277=) c.1212C>T (p.Asp404=) c.954C>T (p.Asp318=) c.56C>T n.334C>T c.815C>T n.1485C>T n.1452C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113427del | CA10585411 | LDLR | c.1594del (p.Leu532CysfsTer5) c.1336del (p.Leu446CysfsTer5) c.1216del (p.Leu406CysfsTer5) c.1590del c.832del (p.Leu278CysfsTer5) c.1213del (p.Leu405CysfsTer5) c.955del (p.Leu319CysfsTer5) c.57del n.335del c.816del n.1486del n.1453del | ClinVar dbSNP |
| 19 | g.11113427C>A | CA16615989 | LDLR | c.1594C>A (p.Leu532Met) c.1336C>A (p.Leu446Met) c.1216C>A (p.Leu406Met) c.1590C>A c.832C>A (p.Leu278Met) c.1213C>A (p.Leu405Met) c.955C>A (p.Leu319Met) c.57C>A n.335C>A c.816C>A n.1486C>A n.1453C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113427C= | CA2322771799 | LDLR | c.1594C= (p.Leu532=) c.1336C= (p.Leu446=) c.1216C= (p.Leu406=) c.1590C= c.832C= (p.Leu278=) c.1213C= (p.Leu405=) c.955C= (p.Leu319=) c.57C= n.335C= c.816C= n.1486C= n.1453C= | |
| 19 | g.11113427C>G | CA023454 | LDLR | c.1594C>G (p.Leu532Val) c.1336C>G (p.Leu446Val) c.1216C>G (p.Leu406Val) c.1590C>G c.832C>G (p.Leu278Val) c.1213C>G (p.Leu405Val) c.955C>G (p.Leu319Val) c.57C>G n.335C>G c.816C>G n.1486C>G n.1453C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113427C>T | CA033653 | LDLR | c.1594C>T (p.Leu532=) c.1336C>T (p.Leu446=) c.1216C>T (p.Leu406=) c.1590C>T c.832C>T (p.Leu278=) c.1213C>T (p.Leu405=) c.955C>T (p.Leu319=) c.57C>T n.335C>T c.816C>T n.1486C>T n.1453C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11113428T>A | CA404085284 | LDLR | c.1595T>A (p.Leu532Gln) c.1337T>A (p.Leu446Gln) c.1217T>A (p.Leu406Gln) c.1591T>A c.833T>A (p.Leu278Gln) c.1214T>A (p.Leu405Gln) c.956T>A (p.Leu319Gln) c.58T>A n.336T>A c.817T>A n.1487T>A n.1454T>A | |
| 19 | g.11113428T>C | CA404085287 | LDLR | c.1595T>C (p.Leu532Pro) c.1337T>C (p.Leu446Pro) c.1217T>C (p.Leu406Pro) c.1591T>C c.833T>C (p.Leu278Pro) c.1214T>C (p.Leu405Pro) c.956T>C (p.Leu319Pro) c.58T>C n.336T>C c.817T>C n.1487T>C n.1454T>C | |
| 19 | g.11113428T>G | CA404085290 | LDLR | c.1595T>G (p.Leu532Arg) c.1337T>G (p.Leu446Arg) c.1217T>G (p.Leu406Arg) c.1591T>G c.833T>G (p.Leu278Arg) c.1214T>G (p.Leu405Arg) c.956T>G (p.Leu319Arg) c.58T>G n.336T>G c.817T>G n.1487T>G n.1454T>G | gnomAD v4 |
| 19 | g.11113429del | CA2580096433 | LDLR | c.1596del (p.Ser533ProfsTer4) c.1338del (p.Ser447ProfsTer4) c.1218del (p.Ser407ProfsTer4) c.1592del c.834del (p.Ser279ProfsTer4) c.1215del (p.Ser406ProfsTer4) c.957del (p.Ser320ProfsTer4) c.59del n.337del c.818del n.1488del n.1455del | ClinVar |
| 19 | g.11113429G>A | CA505743253 | LDLR | c.1596G>A (p.Leu532=) c.1338G>A (p.Leu446=) c.1218G>A (p.Leu406=) c.1592G>A c.834G>A (p.Leu278=) c.1215G>A (p.Leu405=) c.957G>A (p.Leu319=) c.59G>A n.337G>A c.818G>A n.1488G>A n.1455G>A | |
| 19 | g.11113429G>C | CA033679 | LDLR | c.1596G>C (p.Leu532=) c.1338G>C (p.Leu446=) c.1218G>C (p.Leu406=) c.1592G>C c.834G>C (p.Leu278=) c.1215G>C (p.Leu405=) c.957G>C (p.Leu319=) c.59G>C n.337G>C c.818G>C n.1488G>C n.1455G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.11113429G= | CA2322771800 | LDLR | c.1596G= (p.Leu532=) c.1338G= (p.Leu446=) c.1218G= (p.Leu406=) c.1592G= c.834G= (p.Leu278=) c.1215G= (p.Leu405=) c.957G= (p.Leu319=) c.59G= n.337G= c.818G= n.1488G= n.1455G= | |
| 19 | g.11113429G>T | CA505743255 | LDLR | c.1596G>T (p.Leu532=) c.1338G>T (p.Leu446=) c.1218G>T (p.Leu406=) c.1592G>T c.834G>T (p.Leu278=) c.1215G>T (p.Leu405=) c.957G>T (p.Leu319=) c.59G>T n.337G>T c.818G>T n.1488G>T n.1455G>T | |
| 19 | g.11113430T>A | CA404085298 | LDLR | c.1597T>A (p.Ser533Thr) c.1339T>A (p.Ser447Thr) c.1219T>A (p.Ser407Thr) c.1593T>A c.835T>A (p.Ser279Thr) c.1216T>A (p.Ser406Thr) c.958T>A (p.Ser320Thr) c.60T>A n.338T>A c.819T>A n.1489T>A n.1456T>A | |
| 19 | g.11113430T>C | CA10585412 | LDLR | c.1597T>C (p.Ser533Pro) c.1339T>C (p.Ser447Pro) c.1219T>C (p.Ser407Pro) c.1593T>C c.835T>C (p.Ser279Pro) c.1216T>C (p.Ser406Pro) c.958T>C (p.Ser320Pro) c.60T>C n.338T>C c.819T>C n.1489T>C n.1456T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11113430T>G | CA404085295 | LDLR | c.1597T>G (p.Ser533Ala) c.1339T>G (p.Ser447Ala) c.1219T>G (p.Ser407Ala) c.1593T>G c.835T>G (p.Ser279Ala) c.1216T>G (p.Ser406Ala) c.958T>G (p.Ser320Ala) c.60T>G n.338T>G c.819T>G n.1489T>G n.1456T>G | |
| 19 | g.11113430T= | CA2322771801 | LDLR | c.1597T= (p.Ser533=) c.1339T= (p.Ser447=) c.1219T= (p.Ser407=) c.1593T= c.835T= (p.Ser279=) c.1216T= (p.Ser406=) c.958T= (p.Ser320=) c.60T= n.338T= c.819T= n.1489T= n.1456T= | |
| 19 | g.11113431C>A | CA404085302 | LDLR | c.1598C>A (p.Ser533Tyr) c.1340C>A (p.Ser447Tyr) c.1220C>A (p.Ser407Tyr) c.1594C>A c.836C>A (p.Ser279Tyr) c.1217C>A (p.Ser406Tyr) c.959C>A (p.Ser320Tyr) c.61C>A n.339C>A c.820C>A n.1490C>A n.1457C>A | |
| 19 | g.11113431C= | CA2322771802 | LDLR | c.1598C= (p.Ser533=) c.1340C= (p.Ser447=) c.1220C= (p.Ser407=) c.1594C= c.836C= (p.Ser279=) c.1217C= (p.Ser406=) c.959C= (p.Ser320=) c.61C= n.339C= c.820C= n.1490C= n.1457C= | |
| 19 | g.11113431C>G | CA10585413 | LDLR | c.1598C>G (p.Ser533Cys) c.1340C>G (p.Ser447Cys) c.1220C>G (p.Ser407Cys) c.1594C>G c.836C>G (p.Ser279Cys) c.1217C>G (p.Ser406Cys) c.959C>G (p.Ser320Cys) c.61C>G n.339C>G c.820C>G n.1490C>G n.1457C>G | ClinVar dbSNP gnomAD v4 |