| 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.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 | |
| 19 | g.11113436A>C | CA505743269 | LDLR | c.1603A>C (p.Arg535=) c.1345A>C (p.Arg449=) c.1225A>C (p.Arg409=) c.1599A>C c.841A>C (p.Arg281=) c.1222A>C (p.Arg408=) c.964A>C (p.Arg322=) c.66A>C n.344A>C c.825A>C n.1495A>C n.1462A>C | |
| 19 | g.11113436A>G | CA404085329 | LDLR | c.1603A>G (p.Arg535Gly) c.1345A>G (p.Arg449Gly) c.1225A>G (p.Arg409Gly) c.1599A>G c.841A>G (p.Arg281Gly) c.1222A>G (p.Arg408Gly) c.964A>G (p.Arg322Gly) c.66A>G n.344A>G c.825A>G n.1495A>G n.1462A>G | |
| 19 | g.11113436A>T | CA404085332 | LDLR | c.1603A>T (p.Arg535Ter) c.1345A>T (p.Arg449Ter) c.1225A>T (p.Arg409Ter) c.1599A>T c.841A>T (p.Arg281Ter) c.1222A>T (p.Arg408Ter) c.964A>T (p.Arg322Ter) c.66A>T n.344A>T c.825A>T n.1495A>T n.1462A>T | |
| 19 | g.11113437G>A | CA404085341 | LDLR | c.1604G>A (p.Arg535Lys) c.1346G>A (p.Arg449Lys) c.1226G>A (p.Arg409Lys) c.1600G>A c.842G>A (p.Arg281Lys) c.1223G>A (p.Arg408Lys) c.965G>A (p.Arg322Lys) c.67G>A n.345G>A c.826G>A n.1496G>A n.1463G>A | |
| 19 | g.11113437G>C | CA404085339 | LDLR | c.1604G>C (p.Arg535Thr) c.1346G>C (p.Arg449Thr) c.1226G>C (p.Arg409Thr) c.1600G>C c.842G>C (p.Arg281Thr) c.1223G>C (p.Arg408Thr) c.965G>C (p.Arg322Thr) c.67G>C n.345G>C c.826G>C n.1496G>C n.1463G>C | |
| 19 | g.11113437G= | CA2322771806 | LDLR | c.1604G= (p.Arg535=) c.1346G= (p.Arg449=) c.1226G= (p.Arg409=) c.1600G= c.842G= (p.Arg281=) c.1223G= (p.Arg408=) c.965G= (p.Arg322=) c.67G= n.345G= c.826G= n.1496G= n.1463G= | |
| 19 | g.11113437G>T | CA404085336 | LDLR | c.1604G>T (p.Arg535Ile) c.1346G>T (p.Arg449Ile) c.1226G>T (p.Arg409Ile) c.1600G>T c.842G>T (p.Arg281Ile) c.1223G>T (p.Arg408Ile) c.965G>T (p.Arg322Ile) c.67G>T n.345G>T c.826G>T n.1496G>T n.1463G>T | ClinVar dbSNP |
| 19 | g.11113438A= | CA2322771807 | LDLR | c.1605A= (p.Arg535=) c.1347A= (p.Arg449=) c.1227A= (p.Arg409=) c.1601A= c.843A= (p.Arg281=) c.1224A= (p.Arg408=) c.966A= (p.Arg322=) c.68A= n.346A= c.827A= n.1497A= n.1464A= | |
| 19 | g.11113438A>C | CA404085345 | LDLR | c.1605A>C (p.Arg535Ser) c.1347A>C (p.Arg449Ser) c.1227A>C (p.Arg409Ser) c.1601A>C c.843A>C (p.Arg281Ser) c.1224A>C (p.Arg408Ser) c.966A>C (p.Arg322Ser) c.68A>C n.346A>C c.827A>C n.1497A>C n.1464A>C | |
| 19 | g.11113438A>G | CA305300078 | LDLR | c.1605A>G (p.Arg535=) c.1347A>G (p.Arg449=) c.1227A>G (p.Arg409=) c.1601A>G c.843A>G (p.Arg281=) c.1224A>G (p.Arg408=) c.966A>G (p.Arg322=) c.68A>G n.346A>G c.827A>G n.1497A>G n.1464A>G | dbSNP |
| 19 | g.11113438A>T | CA404085351 | LDLR | c.1605A>T (p.Arg535Ser) c.1347A>T (p.Arg449Ser) c.1227A>T (p.Arg409Ser) c.1601A>T c.843A>T (p.Arg281Ser) c.1224A>T (p.Arg408Ser) c.966A>T (p.Arg322Ser) c.68A>T n.346A>T c.827A>T n.1497A>T n.1464A>T | |
| 19 | g.11113439A>C | CA404085354 | LDLR | c.1606A>C (p.Met536Leu) c.1348A>C (p.Met450Leu) c.1228A>C (p.Met410Leu) c.1602A>C c.844A>C (p.Met282Leu) c.1225A>C (p.Met409Leu) c.967A>C (p.Met323Leu) c.69A>C n.347A>C c.828A>C n.1498A>C n.1465A>C | |
| 19 | g.11113439A>G | CA404085356 | LDLR | c.1606A>G (p.Met536Val) c.1348A>G (p.Met450Val) c.1228A>G (p.Met410Val) c.1602A>G c.844A>G (p.Met282Val) c.1225A>G (p.Met409Val) c.967A>G (p.Met323Val) c.69A>G n.347A>G c.828A>G n.1498A>G n.1465A>G | |
| 19 | g.11113439A>T | CA404085360 | LDLR | c.1606A>T (p.Met536Leu) c.1348A>T (p.Met450Leu) c.1228A>T (p.Met410Leu) c.1602A>T c.844A>T (p.Met282Leu) c.1225A>T (p.Met409Leu) c.967A>T (p.Met323Leu) c.69A>T n.347A>T c.828A>T n.1498A>T n.1465A>T | |
| 19 | g.11113440T>A | CA404085364 | LDLR | c.1607T>A (p.Met536Lys) c.1349T>A (p.Met450Lys) c.1229T>A (p.Met410Lys) c.1603T>A c.845T>A (p.Met282Lys) c.1226T>A (p.Met409Lys) c.968T>A (p.Met323Lys) c.70T>A n.348T>A c.829T>A n.1499T>A n.1466T>A | |
| 19 | g.11113440T>C | CA404085368 | LDLR | c.1607T>C (p.Met536Thr) c.1349T>C (p.Met450Thr) c.1229T>C (p.Met410Thr) c.1603T>C c.845T>C (p.Met282Thr) c.1226T>C (p.Met409Thr) c.968T>C (p.Met323Thr) c.70T>C n.348T>C c.829T>C n.1499T>C n.1466T>C | |
| 19 | g.11113440T>G | CA404085370 | LDLR | c.1607T>G (p.Met536Arg) c.1349T>G (p.Met450Arg) c.1229T>G (p.Met410Arg) c.1603T>G c.845T>G (p.Met282Arg) c.1226T>G (p.Met409Arg) c.968T>G (p.Met323Arg) c.70T>G n.348T>G c.829T>G n.1499T>G n.1466T>G | |
| 19 | g.11113441G>A | CA404085373 | LDLR | c.1608G>A (p.Met536Ile) c.1350G>A (p.Met450Ile) c.1230G>A (p.Met410Ile) c.1604G>A c.846G>A (p.Met282Ile) c.1227G>A (p.Met409Ile) c.969G>A (p.Met323Ile) c.71G>A n.349G>A c.830G>A n.1500G>A n.1467G>A | COSMIC |
| 19 | g.11113441G>C | CA404085375 | LDLR | c.1608G>C (p.Met536Ile) c.1350G>C (p.Met450Ile) c.1230G>C (p.Met410Ile) c.1604G>C c.846G>C (p.Met282Ile) c.1227G>C (p.Met409Ile) c.969G>C (p.Met323Ile) c.71G>C n.349G>C c.830G>C n.1500G>C n.1467G>C | |
| 19 | g.11113441G>T | CA404085377 | LDLR | c.1608G>T (p.Met536Ile) c.1350G>T (p.Met450Ile) c.1230G>T (p.Met410Ile) c.1604G>T c.846G>T (p.Met282Ile) c.1227G>T (p.Met409Ile) c.969G>T (p.Met323Ile) c.71G>T n.349G>T c.830G>T n.1500G>T n.1467G>T | gnomAD v4 |
| 19 | g.11113442A= | CA2322771808 | LDLR | c.1609A= (p.Ile537=) c.1351A= (p.Ile451=) c.1231A= (p.Ile411=) c.1605A= c.847A= (p.Ile283=) c.1228A= (p.Ile410=) c.970A= (p.Ile324=) c.72A= n.350A= c.831A= n.1501A= n.1468A= | |
| 19 | g.11113442A>C | CA404085386 | LDLR | c.1609A>C (p.Ile537Leu) c.1351A>C (p.Ile451Leu) c.1231A>C (p.Ile411Leu) c.1605A>C c.847A>C (p.Ile283Leu) c.1228A>C (p.Ile410Leu) c.970A>C (p.Ile324Leu) c.72A>C n.350A>C c.831A>C n.1501A>C n.1468A>C |