| 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.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.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 |
| 19 | g.11113431C>T | CA404085305 | LDLR | c.1598C>T (p.Ser533Phe) c.1340C>T (p.Ser447Phe) c.1220C>T (p.Ser407Phe) c.1594C>T c.836C>T (p.Ser279Phe) c.1217C>T (p.Ser406Phe) c.959C>T (p.Ser320Phe) c.61C>T n.339C>T c.820C>T n.1490C>T n.1457C>T | ClinVar |
| 19 | g.11113432C>A | CA505743260 | LDLR | c.1599C>A (p.Ser533=) c.1341C>A (p.Ser447=) c.1221C>A (p.Ser407=) c.1595C>A c.837C>A (p.Ser279=) c.1218C>A (p.Ser406=) c.960C>A (p.Ser320=) c.62C>A n.340C>A c.821C>A n.1491C>A n.1458C>A | |
| 19 | g.11113432C>G | CA505743263 | LDLR | c.1599C>G (p.Ser533=) c.1341C>G (p.Ser447=) c.1221C>G (p.Ser407=) c.1595C>G c.837C>G (p.Ser279=) c.1218C>G (p.Ser406=) c.960C>G (p.Ser320=) c.62C>G n.340C>G c.821C>G n.1491C>G n.1458C>G | |
| 19 | g.11113432C>T | CA505743262 | LDLR | c.1599C>T (p.Ser533=) c.1341C>T (p.Ser447=) c.1221C>T (p.Ser407=) c.1595C>T c.837C>T (p.Ser279=) c.1218C>T (p.Ser406=) c.960C>T (p.Ser320=) c.62C>T n.340C>T c.821C>T n.1491C>T n.1458C>T | gnomAD v4 |
| 19 | g.11113433C>A | CA404085310 | LDLR | c.1600C>A (p.Gln534Lys) c.1342C>A (p.Gln448Lys) c.1222C>A (p.Gln408Lys) c.1596C>A c.838C>A (p.Gln280Lys) c.1219C>A (p.Gln407Lys) c.961C>A (p.Gln321Lys) c.63C>A n.341C>A c.822C>A n.1492C>A n.1459C>A | ClinVar dbSNP |
| 19 | g.11113433C= | CA2322771803 | LDLR | c.1600C= (p.Gln534=) c.1342C= (p.Gln448=) c.1222C= (p.Gln408=) c.1596C= c.838C= (p.Gln280=) c.1219C= (p.Gln407=) c.961C= (p.Gln321=) c.63C= n.341C= c.822C= n.1492C= n.1459C= | |
| 19 | g.11113433C>G | CA404085312 | LDLR | c.1600C>G (p.Gln534Glu) c.1342C>G (p.Gln448Glu) c.1222C>G (p.Gln408Glu) c.1596C>G c.838C>G (p.Gln280Glu) c.1219C>G (p.Gln407Glu) c.961C>G (p.Gln321Glu) c.63C>G n.341C>G c.822C>G n.1492C>G n.1459C>G | |
| 19 | g.11113433C>T | CA10585414 | LDLR | c.1600C>T (p.Gln534Ter) c.1342C>T (p.Gln448Ter) c.1222C>T (p.Gln408Ter) c.1596C>T c.838C>T (p.Gln280Ter) c.1219C>T (p.Gln407Ter) c.961C>T (p.Gln321Ter) c.63C>T n.341C>T c.822C>T n.1492C>T n.1459C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113433_11113434delinsCA | CA2322771804 | LDLR | c.1600_1601delinsCA (p.Gln534=) c.1342_1343delinsCA (p.Gln448=) c.1222_1223delinsCA (p.Gln408=) c.1596_1597delinsCA c.838_839delinsCA (p.Gln280=) c.1219_1220delinsCA (p.Gln407=) c.961_962delinsCA (p.Gln321=) c.63_64delinsCA n.341_342delinsCA c.822_823delinsCA n.1492_1493delinsCA n.1459_1460delinsCA | |
| 19 | g.11113434del | CA10585415 | LDLR | c.1601del (p.Gln534ArgfsTer3) c.1343del (p.Gln448ArgfsTer3) c.1223del (p.Gln408ArgfsTer3) c.1597del c.839del (p.Gln280ArgfsTer3) c.1220del (p.Gln407ArgfsTer3) c.962del (p.Gln321ArgfsTer3) c.64del n.342del c.823del n.1493del n.1460del | ClinVar dbSNP |
| 19 | g.11113434A= | CA2322771805 | LDLR | c.1601A= (p.Gln534=) c.1343A= (p.Gln448=) c.1223A= (p.Gln408=) c.1597A= c.839A= (p.Gln280=) c.1220A= (p.Gln407=) c.962A= (p.Gln321=) c.64A= n.342A= c.823A= n.1493A= n.1460A= | |
| 19 | g.11113434A>C | CA404085317 | LDLR | c.1601A>C (p.Gln534Pro) c.1343A>C (p.Gln448Pro) c.1223A>C (p.Gln408Pro) c.1597A>C c.839A>C (p.Gln280Pro) c.1220A>C (p.Gln407Pro) c.962A>C (p.Gln321Pro) c.64A>C n.342A>C c.823A>C n.1493A>C n.1460A>C | |
| 19 | g.11113434A>G | CA404085320 | LDLR | c.1601A>G (p.Gln534Arg) c.1343A>G (p.Gln448Arg) c.1223A>G (p.Gln408Arg) c.1597A>G c.839A>G (p.Gln280Arg) c.1220A>G (p.Gln407Arg) c.962A>G (p.Gln321Arg) c.64A>G n.342A>G c.823A>G n.1493A>G n.1460A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11113434A>T | CA404085324 | LDLR | c.1601A>T (p.Gln534Leu) c.1343A>T (p.Gln448Leu) c.1223A>T (p.Gln408Leu) c.1597A>T c.839A>T (p.Gln280Leu) c.1220A>T (p.Gln407Leu) c.962A>T (p.Gln321Leu) c.64A>T n.342A>T c.823A>T n.1493A>T n.1460A>T | |
| 19 | g.11113435G>A | CA505743268 | LDLR | c.1602G>A (p.Gln534=) c.1344G>A (p.Gln448=) c.1224G>A (p.Gln408=) c.1598G>A c.840G>A (p.Gln280=) c.1221G>A (p.Gln407=) c.963G>A (p.Gln321=) c.65G>A n.343G>A c.824G>A n.1494G>A n.1461G>A | ClinVar |
| 19 | g.11113435G>C | CA404085325 | LDLR | c.1602G>C (p.Gln534His) c.1344G>C (p.Gln448His) c.1224G>C (p.Gln408His) c.1598G>C c.840G>C (p.Gln280His) c.1221G>C (p.Gln407His) c.963G>C (p.Gln321His) c.65G>C n.343G>C c.824G>C n.1494G>C n.1461G>C | |
| 19 | g.11113435G>T | CA404085326 | LDLR | c.1602G>T (p.Gln534His) c.1344G>T (p.Gln448His) c.1224G>T (p.Gln408His) c.1598G>T c.840G>T (p.Gln280His) c.1221G>T (p.Gln407His) c.963G>T (p.Gln321His) c.65G>T n.343G>T c.824G>T n.1494G>T n.1461G>T |