| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11106161_11107857del | CA2573050584 | LDLR | c.953-404_1198+343del c.695-404_940+343del c.949-404_1194+343del c.314-1231_436+343del c.572-404_817+343del c.314-404_559+343del c.295-404_540+343del n.845-404_1090+343del n.812-404_1057+343del | |
| 19 | g.11106209_11108573del | CA10585092 | LDLR | c.953-356_1198+1059del c.695-356_940+1059del c.949-356_1194+1059del c.314-1183_436+1059del c.572-356_817+1059del c.314-356_559+1059del c.295-356_540+1059del n.845-356_1090+1059del n.812-356_1057+1059del | ClinVar |
| 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.11106564_11107515del | CA658824389 | LDLR | c.953-1_1198+1del c.695-1_940+1del c.949-1_1194+1del c.314-828_436+1del c.572-1_817+1del c.314-1_559+1del n.209_456del c.295-1_540+1del n.845-1_1090+1del n.812-1_1057+1del | ClinVar |
| 19 | g.11107403G>A | CA023775 | LDLR | c.1087G>A (p.Glu363Lys) c.829G>A (p.Glu277Lys) c.1083G>A c.325G>A (p.Glu109Lys) c.706G>A (p.Glu236Lys) c.448G>A (p.Glu150Lys) n.344G>A c.429G>A n.979G>A n.946G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[11107403G>A;11113359T>C] | CA645373253 | LDLR | c.[1087G>A;1526T>C] (p.[Glu363Lys;Ile509Thr]) c.[829G>A;1268T>C] (p.[Glu277Lys;Ile423Thr]) c.[829G>A;1148T>C] (p.[Glu277Lys;Ile383Thr]) c.[1083G>A;1522T>C] c.[325G>A;764T>C] (p.[Glu109Lys;Ile255Thr]) c.[706G>A;1145T>C] (p.[Glu236Lys;Ile382Thr]) c.[448G>A;887T>C] (p.[Glu150Lys;Ile296Thr]) c.[429G>A;748T>C] n.[979G>A;1418T>C] n.[946G>A;1385T>C] | ClinVar |
| 19 | g.11107403G>C | CA404080523 | LDLR | c.1087G>C (p.Glu363Gln) c.829G>C (p.Glu277Gln) c.1083G>C c.325G>C (p.Glu109Gln) c.706G>C (p.Glu236Gln) c.448G>C (p.Glu150Gln) n.344G>C c.429G>C n.979G>C n.946G>C | |
| 19 | g.11107403G= | CA2322768571 | LDLR | c.1087G= (p.Glu363=) c.829G= (p.Glu277=) c.1083G= c.325G= (p.Glu109=) c.706G= (p.Glu236=) c.448G= (p.Glu150=) n.344G= c.429G= n.979G= n.946G= | |
| 19 | g.11107403G>T | CA404080521 | LDLR | c.1087G>T (p.Glu363Ter) c.829G>T (p.Glu277Ter) c.1083G>T c.325G>T (p.Glu109Ter) c.706G>T (p.Glu236Ter) c.448G>T (p.Glu150Ter) n.344G>T c.429G>T n.979G>T n.946G>T | ClinVar dbSNP |
| 19 | g.11107404A>C | CA404080526 | LDLR | c.1088A>C (p.Glu363Ala) c.830A>C (p.Glu277Ala) c.1084A>C c.326A>C (p.Glu109Ala) c.707A>C (p.Glu236Ala) c.449A>C (p.Glu150Ala) n.345A>C c.430A>C n.980A>C n.947A>C | |
| 19 | g.11107404A>G | CA404080527 | LDLR | c.1088A>G (p.Glu363Gly) c.830A>G (p.Glu277Gly) c.1084A>G c.326A>G (p.Glu109Gly) c.707A>G (p.Glu236Gly) c.449A>G (p.Glu150Gly) n.345A>G c.430A>G n.980A>G n.947A>G | gnomAD v4 |
| 19 | g.11107404A>T | CA404080530 | LDLR | c.1088A>T (p.Glu363Val) c.830A>T (p.Glu277Val) c.1084A>T c.326A>T (p.Glu109Val) c.707A>T (p.Glu236Val) c.449A>T (p.Glu150Val) n.345A>T c.430A>T n.980A>T n.947A>T | |
| 19 | g.11107405G>A | CA505485059 | LDLR | c.1089G>A (p.Glu363=) c.831G>A (p.Glu277=) c.1085G>A c.327G>A (p.Glu109=) c.708G>A (p.Glu236=) c.450G>A (p.Glu150=) n.346G>A c.431G>A n.981G>A n.948G>A | COSMIC |
| 19 | g.11107405G>C | CA029826 | LDLR | c.1089G>C (p.Glu363Asp) c.831G>C (p.Glu277Asp) c.1085G>C c.327G>C (p.Glu109Asp) c.708G>C (p.Glu236Asp) c.450G>C (p.Glu150Asp) n.346G>C c.431G>C n.981G>C n.948G>C | dbSNP ExAC gnomAD v2 |
| 19 | g.11107405G= | CA2322768572 | LDLR | c.1089G= (p.Glu363=) c.831G= (p.Glu277=) c.1085G= c.327G= (p.Glu109=) c.708G= (p.Glu236=) c.450G= (p.Glu150=) n.346G= c.431G= n.981G= n.948G= | |
| 19 | g.11107405G>T | CA404080534 | LDLR | c.1089G>T (p.Glu363Asp) c.831G>T (p.Glu277Asp) c.1085G>T c.327G>T (p.Glu109Asp) c.708G>T (p.Glu236Asp) c.450G>T (p.Glu150Asp) n.346G>T c.431G>T n.981G>T n.948G>T | |
| 19 | g.11107406G>A | CA404080538 | LDLR | c.1090G>A (p.Gly364Arg) c.832G>A (p.Gly278Arg) c.1086G>A c.328G>A (p.Gly110Arg) c.709G>A (p.Gly237Arg) c.451G>A (p.Gly151Arg) n.347G>A c.432G>A n.982G>A n.949G>A | |
| 19 | g.11107406G>C | CA404080540 | LDLR | c.1090G>C (p.Gly364Arg) c.832G>C (p.Gly278Arg) c.1086G>C c.328G>C (p.Gly110Arg) c.709G>C (p.Gly237Arg) c.451G>C (p.Gly151Arg) n.347G>C c.432G>C n.982G>C n.949G>C | gnomAD v4 |
| 19 | g.11107406G= | CA2322768573 | LDLR | c.1090G= (p.Gly364=) c.832G= (p.Gly278=) c.1086G= c.328G= (p.Gly110=) c.709G= (p.Gly237=) c.451G= (p.Gly151=) n.347G= c.432G= n.982G= n.949G= | |
| 19 | g.11107406G>T | CA404080543 | LDLR | c.1090G>T (p.Gly364Ter) c.832G>T (p.Gly278Ter) c.1086G>T c.328G>T (p.Gly110Ter) c.709G>T (p.Gly237Ter) c.451G>T (p.Gly151Ter) n.347G>T c.432G>T n.982G>T n.949G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11107407G>A | CA404080545 | LDLR | c.1091G>A (p.Gly364Glu) c.833G>A (p.Gly278Glu) c.1087G>A c.329G>A (p.Gly110Glu) c.710G>A (p.Gly237Glu) c.452G>A (p.Gly151Glu) n.348G>A c.433G>A n.983G>A n.950G>A | |
| 19 | g.11107407G>C | CA404080548 | LDLR | c.1091G>C (p.Gly364Ala) c.833G>C (p.Gly278Ala) c.1087G>C c.329G>C (p.Gly110Ala) c.710G>C (p.Gly237Ala) c.452G>C (p.Gly151Ala) n.348G>C c.433G>C n.983G>C n.950G>C | |
| 19 | g.11107407G>T | CA404080551 | LDLR | c.1091G>T (p.Gly364Val) c.833G>T (p.Gly278Val) c.1087G>T c.329G>T (p.Gly110Val) c.710G>T (p.Gly237Val) c.452G>T (p.Gly151Val) n.348G>T c.433G>T n.983G>T n.950G>T | |
| 19 | g.11107408A>C | CA505485060 | LDLR | c.1092A>C (p.Gly364=) c.834A>C (p.Gly278=) c.1088A>C c.330A>C (p.Gly110=) c.711A>C (p.Gly237=) c.453A>C (p.Gly151=) n.349A>C c.434A>C n.984A>C n.951A>C | |
| 19 | g.11107408A>G | CA505485061 | LDLR | c.1092A>G (p.Gly364=) c.834A>G (p.Gly278=) c.1088A>G c.330A>G (p.Gly110=) c.711A>G (p.Gly237=) c.453A>G (p.Gly151=) n.349A>G c.434A>G n.984A>G n.951A>G | |
| 19 | g.11107408A>T | CA505485062 | LDLR | c.1092A>T (p.Gly364=) c.834A>T (p.Gly278=) c.1088A>T c.330A>T (p.Gly110=) c.711A>T (p.Gly237=) c.453A>T (p.Gly151=) n.349A>T c.434A>T n.984A>T n.951A>T | |
| 19 | g.11107409C>A | CA404080559 | LDLR | c.1093C>A (p.Pro365Thr) c.835C>A (p.Pro279Thr) c.1089C>A c.331C>A (p.Pro111Thr) c.712C>A (p.Pro238Thr) c.454C>A (p.Pro152Thr) n.350C>A c.435C>A n.985C>A n.952C>A | |
| 19 | g.11107409C= | CA2322768574 | LDLR | c.1093C= (p.Pro365=) c.835C= (p.Pro279=) c.1089C= c.331C= (p.Pro111=) c.712C= (p.Pro238=) c.454C= (p.Pro152=) n.350C= c.435C= n.985C= n.952C= | |
| 19 | g.11107409C>G | CA404080556 | LDLR | c.1093C>G (p.Pro365Ala) c.835C>G (p.Pro279Ala) c.1089C>G c.331C>G (p.Pro111Ala) c.712C>G (p.Pro238Ala) c.454C>G (p.Pro152Ala) n.350C>G c.435C>G n.985C>G n.952C>G | |
| 19 | g.11107409C>T | CA404080554 | LDLR | c.1093C>T (p.Pro365Ser) c.835C>T (p.Pro279Ser) c.1089C>T c.331C>T (p.Pro111Ser) c.712C>T (p.Pro238Ser) c.454C>T (p.Pro152Ser) n.350C>T c.435C>T n.985C>T n.952C>T | ClinVar dbSNP |
| 19 | g.11107410C>A | CA305298509 | LDLR | c.1094C>A (p.Pro365His) c.836C>A (p.Pro279His) c.1090C>A c.332C>A (p.Pro111His) c.713C>A (p.Pro238His) c.455C>A (p.Pro152His) n.351C>A c.436C>A n.986C>A n.953C>A | dbSNP gnomAD v4 |
| 19 | g.11107410C= | CA2322768575 | LDLR | c.1094C= (p.Pro365=) c.836C= (p.Pro279=) c.1090C= c.332C= (p.Pro111=) c.713C= (p.Pro238=) c.455C= (p.Pro152=) n.351C= c.436C= n.986C= n.953C= | |
| 19 | g.11107410C>G | CA404080563 | LDLR | c.1094C>G (p.Pro365Arg) c.836C>G (p.Pro279Arg) c.1090C>G c.332C>G (p.Pro111Arg) c.713C>G (p.Pro238Arg) c.455C>G (p.Pro152Arg) n.351C>G c.436C>G n.986C>G n.953C>G | |
| 19 | g.11107410C>T | CA404080564 | LDLR | c.1094C>T (p.Pro365Leu) c.836C>T (p.Pro279Leu) c.1090C>T c.332C>T (p.Pro111Leu) c.713C>T (p.Pro238Leu) c.455C>T (p.Pro152Leu) n.351C>T c.436C>T n.986C>T n.953C>T | |
| 19 | g.11107411C>A | CA505485063 | LDLR | c.1095C>A (p.Pro365=) c.837C>A (p.Pro279=) c.1091C>A c.333C>A (p.Pro111=) c.714C>A (p.Pro238=) c.456C>A (p.Pro152=) n.352C>A c.437C>A n.987C>A n.954C>A | |
| 19 | g.11107411C= | CA2322768576 | LDLR | c.1095C= (p.Pro365=) c.837C= (p.Pro279=) c.1091C= c.333C= (p.Pro111=) c.714C= (p.Pro238=) c.456C= (p.Pro152=) n.352C= c.437C= n.987C= n.954C= | |
| 19 | g.11107411C>G | CA505485064 | LDLR | c.1095C>G (p.Pro365=) c.837C>G (p.Pro279=) c.1091C>G c.333C>G (p.Pro111=) c.714C>G (p.Pro238=) c.456C>G (p.Pro152=) n.352C>G c.437C>G n.987C>G n.954C>G | gnomAD v4 |
| 19 | g.11107411C>T | CA505485065 | LDLR | c.1095C>T (p.Pro365=) c.837C>T (p.Pro279=) c.1091C>T c.333C>T (p.Pro111=) c.714C>T (p.Pro238=) c.456C>T (p.Pro152=) n.352C>T c.437C>T n.987C>T n.954C>T | |
| 19 | g.11107412A>C | CA404080566 | LDLR | c.1096A>C (p.Asn366His) c.838A>C (p.Asn280His) c.1092A>C c.334A>C (p.Asn112His) c.715A>C (p.Asn239His) c.457A>C (p.Asn153His) n.353A>C c.438A>C n.988A>C n.955A>C | |
| 19 | g.11107412A>G | CA404080569 | LDLR | c.1096A>G (p.Asn366Asp) c.838A>G (p.Asn280Asp) c.1092A>G c.334A>G (p.Asn112Asp) c.715A>G (p.Asn239Asp) c.457A>G (p.Asn153Asp) n.353A>G c.438A>G n.988A>G n.955A>G |