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.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 | ClinVar |
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 | ClinVar |
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 | |
19 | g.11107412A>T | CA404080571 | LDLR | c.1096A>T (p.Asn366Tyr) c.838A>T (p.Asn280Tyr) c.1092A>T c.334A>T (p.Asn112Tyr) c.715A>T (p.Asn239Tyr) c.457A>T (p.Asn153Tyr) n.353A>T c.438A>T n.988A>T n.955A>T | |
19 | g.11107413_11107422dup | CA645509270 | LDLR | c.1097_1106dup (p.Cys370GlnfsTer20) c.839_848dup (p.Cys284GlnfsTer20) c.1093_1102dup c.335_344dup (p.Cys116GlnfsTer20) c.716_725dup (p.Cys243GlnfsTer20) c.458_467dup (p.Cys157GlnfsTer20) n.354_363dup c.439_448dup n.989_998dup n.956_965dup | ClinVar dbSNP |
19 | g.11107413A>C | CA404080574 | LDLR | c.1097A>C (p.Asn366Thr) c.839A>C (p.Asn280Thr) c.1093A>C c.335A>C (p.Asn112Thr) c.716A>C (p.Asn239Thr) c.458A>C (p.Asn153Thr) n.354A>C c.439A>C n.989A>C n.956A>C | |
19 | g.11107413A>G | CA404080576 | LDLR | c.1097A>G (p.Asn366Ser) c.839A>G (p.Asn280Ser) c.1093A>G c.335A>G (p.Asn112Ser) c.716A>G (p.Asn239Ser) c.458A>G (p.Asn153Ser) n.354A>G c.439A>G n.989A>G n.956A>G | |
19 | g.11107413A>T | CA404080578 | LDLR | c.1097A>T (p.Asn366Ile) c.839A>T (p.Asn280Ile) c.1093A>T c.335A>T (p.Asn112Ile) c.716A>T (p.Asn239Ile) c.458A>T (p.Asn153Ile) n.354A>T c.439A>T n.989A>T n.956A>T | gnomAD v4 |
19 | g.11107414C>A | CA404080580 | LDLR | c.1098C>A (p.Asn366Lys) c.840C>A (p.Asn280Lys) c.1094C>A c.336C>A (p.Asn112Lys) c.717C>A (p.Asn239Lys) c.459C>A (p.Asn153Lys) n.355C>A c.440C>A n.990C>A n.957C>A | |
19 | g.11107414C= | CA2322768577 | LDLR | c.1098C= (p.Asn366=) c.840C= (p.Asn280=) c.1094C= c.336C= (p.Asn112=) c.717C= (p.Asn239=) c.459C= (p.Asn153=) n.355C= c.440C= n.990C= n.957C= | |
19 | g.11107414C>G | CA404080582 | LDLR | c.1098C>G (p.Asn366Lys) c.840C>G (p.Asn280Lys) c.1094C>G c.336C>G (p.Asn112Lys) c.717C>G (p.Asn239Lys) c.459C>G (p.Asn153Lys) n.355C>G c.440C>G n.990C>G n.957C>G | |
19 | g.11107414C>T | CA505485066 | LDLR | c.1098C>T (p.Asn366=) c.840C>T (p.Asn280=) c.1094C>T c.336C>T (p.Asn112=) c.717C>T (p.Asn239=) c.459C>T (p.Asn153=) n.355C>T c.440C>T n.990C>T n.957C>T | gnomAD v4 |
19 | g.11107414_11107415insT | CA645509271 | LDLR | c.1098_1099insT (p.Lys367Ter) c.840_841insT (p.Lys281Ter) c.1094_1095insT c.336_337insT (p.Lys113Ter) c.717_718insT (p.Lys240Ter) c.459_460insT (p.Lys154Ter) n.355_356insT c.440_441insT n.990_991insT n.957_958insT | ClinVar dbSNP |
19 | g.11107415A>C | CA404080592 | LDLR | c.1099A>C (p.Lys367Gln) c.841A>C (p.Lys281Gln) c.1095A>C c.337A>C (p.Lys113Gln) c.718A>C (p.Lys240Gln) c.460A>C (p.Lys154Gln) n.356A>C c.441A>C n.991A>C n.958A>C | gnomAD v4 |
19 | g.11107415A>G | CA404080589 | LDLR | c.1099A>G (p.Lys367Glu) c.841A>G (p.Lys281Glu) c.1095A>G c.337A>G (p.Lys113Glu) c.718A>G (p.Lys240Glu) c.460A>G (p.Lys154Glu) n.356A>G c.441A>G n.991A>G n.958A>G | |
19 | g.11107415A>T | CA404080586 | LDLR | c.1099A>T (p.Lys367Ter) c.841A>T (p.Lys281Ter) c.1095A>T c.337A>T (p.Lys113Ter) c.718A>T (p.Lys240Ter) c.460A>T (p.Lys154Ter) n.356A>T c.441A>T n.991A>T n.958A>T | |
19 | g.11107416del | CA2695238669 | LDLR | c.1100del (p.Lys367SerfsTer?) c.842del (p.Lys281SerfsTer?) c.1096del c.338del (p.Lys113SerfsTer?) c.719del (p.Lys240SerfsTer?) c.461del (p.Lys154SerfsTer?) n.357del c.442del n.992del n.959del | |
19 | g.11107416A>C | CA404080596 | LDLR | c.1100A>C (p.Lys367Thr) c.842A>C (p.Lys281Thr) c.1096A>C c.338A>C (p.Lys113Thr) c.719A>C (p.Lys240Thr) c.461A>C (p.Lys154Thr) n.357A>C c.442A>C n.992A>C n.959A>C | |
19 | g.11107416A>G | CA404080599 | LDLR | c.1100A>G (p.Lys367Arg) c.842A>G (p.Lys281Arg) c.1096A>G c.338A>G (p.Lys113Arg) c.719A>G (p.Lys240Arg) c.461A>G (p.Lys154Arg) n.357A>G c.442A>G n.992A>G n.959A>G | |
19 | g.11107416A>T | CA404080600 | LDLR | c.1100A>T (p.Lys367Met) c.842A>T (p.Lys281Met) c.1096A>T c.338A>T (p.Lys113Met) c.719A>T (p.Lys240Met) c.461A>T (p.Lys154Met) n.357A>T c.442A>T n.992A>T n.959A>T | |
19 | g.11107417G>A | CA029857 | LDLR | c.1101G>A (p.Lys367=) c.843G>A (p.Lys281=) c.1097G>A c.339G>A (p.Lys113=) c.720G>A (p.Lys240=) c.462G>A (p.Lys154=) n.358G>A c.443G>A n.993G>A n.960G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107417G>C | CA404080605 | LDLR | c.1101G>C (p.Lys367Asn) c.843G>C (p.Lys281Asn) c.1097G>C c.339G>C (p.Lys113Asn) c.720G>C (p.Lys240Asn) c.462G>C (p.Lys154Asn) n.358G>C c.443G>C n.993G>C n.960G>C | |
19 | g.11107417G= | CA2322768578 | LDLR | c.1101G= (p.Lys367=) c.843G= (p.Lys281=) c.1097G= c.339G= (p.Lys113=) c.720G= (p.Lys240=) c.462G= (p.Lys154=) n.358G= c.443G= n.993G= n.960G= | |
19 | g.11107417G>T | CA404080607 | LDLR | c.1101G>T (p.Lys367Asn) c.843G>T (p.Lys281Asn) c.1097G>T c.339G>T (p.Lys113Asn) c.720G>T (p.Lys240Asn) c.462G>T (p.Lys154Asn) n.358G>T c.443G>T n.993G>T n.960G>T | |
19 | g.11107417_11107418insGGAC | CA1139666259 | LDLR | c.1101_1102insGGAC (p.Phe368GlyfsTer20) c.843_844insGGAC (p.Phe282GlyfsTer20) c.1097_1098insGGAC c.339_340insGGAC (p.Phe114GlyfsTer20) c.720_721insGGAC (p.Phe241GlyfsTer20) c.462_463insGGAC (p.Phe155GlyfsTer20) n.358_359insGGAC c.443_444insGGAC n.993_994insGGAC n.960_961insGGAC | ClinVar dbSNP |
19 | g.11107418T>A | CA404080616 | LDLR | c.1102T>A (p.Phe368Ile) c.844T>A (p.Phe282Ile) c.1098T>A c.340T>A (p.Phe114Ile) c.721T>A (p.Phe241Ile) c.463T>A (p.Phe155Ile) n.359T>A c.444T>A n.994T>A n.961T>A | |
19 | g.11107418T>C | CA404080610 | LDLR | c.1102T>C (p.Phe368Leu) c.844T>C (p.Phe282Leu) c.1098T>C c.340T>C (p.Phe114Leu) c.721T>C (p.Phe241Leu) c.463T>C (p.Phe155Leu) n.359T>C c.444T>C n.994T>C n.961T>C | ClinVar dbSNP |
19 | g.11107418T>G | CA404080613 | LDLR | c.1102T>G (p.Phe368Val) c.844T>G (p.Phe282Val) c.1098T>G c.340T>G (p.Phe114Val) c.721T>G (p.Phe241Val) c.463T>G (p.Phe155Val) n.359T>G c.444T>G n.994T>G n.961T>G | gnomAD v4 |
19 | g.11107418T= | CA2322768579 | LDLR | c.1102T= (p.Phe368=) c.844T= (p.Phe282=) c.1098T= c.340T= (p.Phe114=) c.721T= (p.Phe241=) c.463T= (p.Phe155=) n.359T= c.444T= n.994T= n.961T= | |
19 | g.11107418_11107426delinsGGACTTCAAG | CA2837994633 | LDLR | c.1102_1110delinsGGACTTCAAG (p.Phe368GlyfsTer19) c.844_852delinsGGACTTCAAG (p.Phe282GlyfsTer19) c.1098_1106delinsGGACTTCAAG c.340_348delinsGGACTTCAAG (p.Phe114GlyfsTer19) c.721_729delinsGGACTTCAAG (p.Phe241GlyfsTer19) c.463_471delinsGGACTTCAAG (p.Phe155GlyfsTer19) n.359_367delinsGGACTTCAAG c.444_452delinsGGACTTCAAG n.994_1002delinsGGACTTCAAG n.961_969delinsGGACTTCAAG | |
19 | g.11107419T>A | CA404080620 | LDLR | c.1103T>A (p.Phe368Tyr) c.845T>A (p.Phe282Tyr) c.1099T>A c.341T>A (p.Phe114Tyr) c.722T>A (p.Phe241Tyr) c.464T>A (p.Phe155Tyr) n.360T>A c.445T>A n.995T>A n.962T>A | ClinVar |
19 | g.11107419T>C | CA404080622 | LDLR | c.1103T>C (p.Phe368Ser) c.845T>C (p.Phe282Ser) c.1099T>C c.341T>C (p.Phe114Ser) c.722T>C (p.Phe241Ser) c.464T>C (p.Phe155Ser) n.360T>C c.445T>C n.995T>C n.962T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11107419T>G | CA404080624 | LDLR | c.1103T>G (p.Phe368Cys) c.845T>G (p.Phe282Cys) c.1099T>G c.341T>G (p.Phe114Cys) c.722T>G (p.Phe241Cys) c.464T>G (p.Phe155Cys) n.360T>G c.445T>G n.995T>G n.962T>G | ClinVar dbSNP |
19 | g.11107419T= | CA2322768580 | LDLR | c.1103T= (p.Phe368=) c.845T= (p.Phe282=) c.1099T= c.341T= (p.Phe114=) c.722T= (p.Phe241=) c.464T= (p.Phe155=) n.360T= c.445T= n.995T= n.962T= | |
19 | g.11107420C>A | CA023778 | LDLR | c.1104C>A (p.Phe368Leu) c.846C>A (p.Phe282Leu) c.1100C>A c.342C>A (p.Phe114Leu) c.723C>A (p.Phe241Leu) c.465C>A (p.Phe155Leu) n.361C>A c.446C>A n.996C>A n.963C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107420C= | CA2322768581 | LDLR | c.1104C= (p.Phe368=) c.846C= (p.Phe282=) c.1100C= c.342C= (p.Phe114=) c.723C= (p.Phe241=) c.465C= (p.Phe155=) n.361C= c.446C= n.996C= n.963C= | |
19 | g.11107420C>G | CA404080626 | LDLR | c.1104C>G (p.Phe368Leu) c.846C>G (p.Phe282Leu) c.1100C>G c.342C>G (p.Phe114Leu) c.723C>G (p.Phe241Leu) c.465C>G (p.Phe155Leu) n.361C>G c.446C>G n.996C>G n.963C>G | |
19 | g.11107420C>T | CA505485068 | LDLR | c.1104C>T (p.Phe368=) c.846C>T (p.Phe282=) c.1100C>T c.342C>T (p.Phe114=) c.723C>T (p.Phe241=) c.465C>T (p.Phe155=) n.361C>T c.446C>T n.996C>T n.963C>T | |
19 | g.11107421A= | CA2322768582 | LDLR | c.1105A= (p.Lys369=) c.847A= (p.Lys283=) c.1101A= c.343A= (p.Lys115=) c.724A= (p.Lys242=) c.466A= (p.Lys156=) n.362A= c.447A= n.997A= n.964A= | |
19 | g.11107421A>C | CA404080629 | LDLR | c.1105A>C (p.Lys369Gln) c.847A>C (p.Lys283Gln) c.1101A>C c.343A>C (p.Lys115Gln) c.724A>C (p.Lys242Gln) c.466A>C (p.Lys156Gln) n.362A>C c.447A>C n.997A>C n.964A>C | |
19 | g.11107421A>G | CA404080633 | LDLR | c.1105A>G (p.Lys369Glu) c.847A>G (p.Lys283Glu) c.1101A>G c.343A>G (p.Lys115Glu) c.724A>G (p.Lys242Glu) c.466A>G (p.Lys156Glu) n.362A>G c.447A>G n.997A>G n.964A>G | |
19 | g.11107421A>T | CA404080631 | LDLR | c.1105A>T (p.Lys369Ter) c.847A>T (p.Lys283Ter) c.1101A>T c.343A>T (p.Lys115Ter) c.724A>T (p.Lys242Ter) c.466A>T (p.Lys156Ter) n.362A>T c.447A>T n.997A>T n.964A>T | ClinVar dbSNP |
19 | g.11107422A>C | CA404080636 | LDLR | c.1106A>C (p.Lys369Thr) c.848A>C (p.Lys283Thr) c.1102A>C c.344A>C (p.Lys115Thr) c.725A>C (p.Lys242Thr) c.467A>C (p.Lys156Thr) n.363A>C c.448A>C n.998A>C n.965A>C | ClinVar |
19 | g.11107422A>G | CA404080643 | LDLR | c.1106A>G (p.Lys369Arg) c.848A>G (p.Lys283Arg) c.1102A>G c.344A>G (p.Lys115Arg) c.725A>G (p.Lys242Arg) c.467A>G (p.Lys156Arg) n.363A>G c.448A>G n.998A>G n.965A>G | |
19 | g.11107422A>T | CA404080645 | LDLR | c.1106A>T (p.Lys369Met) c.848A>T (p.Lys283Met) c.1102A>T c.344A>T (p.Lys115Met) c.725A>T (p.Lys242Met) c.467A>T (p.Lys156Met) n.363A>T c.448A>T n.998A>T n.965A>T | |
19 | g.11107423G>A | CA505485069 | LDLR | c.1107G>A (p.Lys369=) c.849G>A (p.Lys283=) c.1103G>A c.345G>A (p.Lys115=) c.726G>A (p.Lys242=) c.468G>A (p.Lys156=) n.364G>A c.449G>A n.999G>A n.966G>A | |
19 | g.11107423G>C | CA404080648 | LDLR | c.1107G>C (p.Lys369Asn) c.849G>C (p.Lys283Asn) c.1103G>C c.345G>C (p.Lys115Asn) c.726G>C (p.Lys242Asn) c.468G>C (p.Lys156Asn) n.364G>C c.449G>C n.999G>C n.966G>C | |
19 | g.11107423G>T | CA404080649 | LDLR | c.1107G>T (p.Lys369Asn) c.849G>T (p.Lys283Asn) c.1103G>T c.345G>T (p.Lys115Asn) c.726G>T (p.Lys242Asn) c.468G>T (p.Lys156Asn) n.364G>T c.449G>T n.999G>T n.966G>T | |
19 | g.11107423_11107426delinsGTGT | CA2322768583 | LDLR | c.1107_1110delinsGTGT (p.Lys369=) c.849_852delinsGTGT (p.Lys283=) c.1103_1106delinsGTGT c.345_348delinsGTGT (p.Lys115=) c.726_729delinsGTGT (p.Lys242=) c.468_471delinsGTGT (p.Lys156=) n.364_367delinsGTGT c.449_452delinsGTGT n.999_1002delinsGTGT n.966_969delinsGTGT | |
19 | g.11107424T>A | CA10585157 | LDLR | c.1108T>A (p.Cys370Ser) c.850T>A (p.Cys284Ser) c.1104T>A c.346T>A (p.Cys116Ser) c.727T>A (p.Cys243Ser) c.469T>A (p.Cys157Ser) n.365T>A c.450T>A n.1000T>A n.967T>A | ClinVar dbSNP |
19 | g.11107424T>C | CA10585158 | LDLR | c.1108T>C (p.Cys370Arg) c.850T>C (p.Cys284Arg) c.1104T>C c.346T>C (p.Cys116Arg) c.727T>C (p.Cys243Arg) c.469T>C (p.Cys157Arg) n.365T>C c.450T>C n.1000T>C n.967T>C | ClinVar dbSNP |
19 | g.11107424T>G | CA10585159 | LDLR | c.1108T>G (p.Cys370Gly) c.850T>G (p.Cys284Gly) c.1104T>G c.346T>G (p.Cys116Gly) c.727T>G (p.Cys243Gly) c.469T>G (p.Cys157Gly) n.365T>G c.450T>G n.1000T>G n.967T>G | ClinVar dbSNP |
19 | g.11107424T= | CA2322768584 | LDLR | c.1108T= (p.Cys370=) c.850T= (p.Cys284=) c.1104T= c.346T= (p.Cys116=) c.727T= (p.Cys243=) c.469T= (p.Cys157=) n.365T= c.450T= n.1000T= n.967T= | |
19 | g.11107424_11107426del | CA1139666260 | LDLR | c.1108_1110del (p.Cys370del) c.850_852del (p.Cys284del) c.1104_1106del c.346_348del (p.Cys116del) c.727_729del (p.Cys243del) c.469_471del (p.Cys157del) n.365_367del c.450_452del n.1000_1002del n.967_969del | ClinVar dbSNP |
19 | g.11107425G>A | CA404080656 | LDLR | c.1109G>A (p.Cys370Tyr) c.851G>A (p.Cys284Tyr) c.1105G>A c.347G>A (p.Cys116Tyr) c.728G>A (p.Cys243Tyr) c.470G>A (p.Cys157Tyr) n.366G>A c.451G>A n.1001G>A n.968G>A | ClinVar |
19 | g.11107425G>C | CA10585160 | LDLR | c.1109G>C (p.Cys370Ser) c.851G>C (p.Cys284Ser) c.1105G>C c.347G>C (p.Cys116Ser) c.728G>C (p.Cys243Ser) c.470G>C (p.Cys157Ser) n.366G>C c.451G>C n.1001G>C n.968G>C | ClinVar dbSNP |
19 | g.11107425G= | CA2322768585 | LDLR | c.1109G= (p.Cys370=) c.851G= (p.Cys284=) c.1105G= c.347G= (p.Cys116=) c.728G= (p.Cys243=) c.470G= (p.Cys157=) n.366G= c.451G= n.1001G= n.968G= | |
19 | g.11107425G>T | CA404080659 | LDLR | c.1109G>T (p.Cys370Phe) c.851G>T (p.Cys284Phe) c.1105G>T c.347G>T (p.Cys116Phe) c.728G>T (p.Cys243Phe) c.470G>T (p.Cys157Phe) n.366G>T c.451G>T n.1001G>T n.968G>T | ClinVar dbSNP |
19 | g.11107426T>A | CA404080663 | LDLR | c.1110T>A (p.Cys370Ter) c.852T>A (p.Cys284Ter) c.1106T>A c.348T>A (p.Cys116Ter) c.729T>A (p.Cys243Ter) c.471T>A (p.Cys157Ter) n.367T>A c.452T>A n.1002T>A n.969T>A | ClinVar |
19 | g.11107426T>C | CA505485070 | LDLR | c.1110T>C (p.Cys370=) c.852T>C (p.Cys284=) c.1106T>C c.348T>C (p.Cys116=) c.729T>C (p.Cys243=) c.471T>C (p.Cys157=) n.367T>C c.452T>C n.1002T>C n.969T>C | dbSNP gnomAD v4 |
19 | g.11107426T>G | CA404080662 | LDLR | c.1110T>G (p.Cys370Trp) c.852T>G (p.Cys284Trp) c.1106T>G c.348T>G (p.Cys116Trp) c.729T>G (p.Cys243Trp) c.471T>G (p.Cys157Trp) n.367T>G c.452T>G n.1002T>G n.969T>G | |
19 | g.11107426T= | CA2322768586 | LDLR | c.1110T= (p.Cys370=) c.852T= (p.Cys284=) c.1106T= c.348T= (p.Cys116=) c.729T= (p.Cys243=) c.471T= (p.Cys157=) n.367T= c.452T= n.1002T= n.969T= | |
19 | g.11107427C>A | CA404080667 | LDLR | c.1111C>A (p.His371Asn) c.853C>A (p.His285Asn) c.1107C>A c.349C>A (p.His117Asn) c.730C>A (p.His244Asn) c.472C>A (p.His158Asn) n.368C>A c.453C>A n.1003C>A n.970C>A | |
19 | g.11107427C= | CA2322768587 | LDLR | c.1111C= (p.His371=) c.853C= (p.His285=) c.1107C= c.349C= (p.His117=) c.730C= (p.His244=) c.472C= (p.His158=) n.368C= c.453C= n.1003C= n.970C= | |
19 | g.11107427C>G | CA404080670 | LDLR | c.1111C>G (p.His371Asp) c.853C>G (p.His285Asp) c.1107C>G c.349C>G (p.His117Asp) c.730C>G (p.His244Asp) c.472C>G (p.His158Asp) n.368C>G c.453C>G n.1003C>G n.970C>G | |
19 | g.11107427C>T | CA023780 | LDLR | c.1111C>T (p.His371Tyr) c.853C>T (p.His285Tyr) c.1107C>T c.349C>T (p.His117Tyr) c.730C>T (p.His244Tyr) c.472C>T (p.His158Tyr) n.368C>T c.453C>T n.1003C>T n.970C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107428A= | CA2322768588 | LDLR | c.1112A= (p.His371=) c.854A= (p.His285=) c.1108A= c.350A= (p.His117=) c.731A= (p.His244=) c.473A= (p.His158=) n.369A= c.454A= n.1004A= n.971A= | |
19 | g.11107428A>C | CA404080672 | LDLR | c.1112A>C (p.His371Pro) c.854A>C (p.His285Pro) c.1108A>C c.350A>C (p.His117Pro) c.731A>C (p.His244Pro) c.473A>C (p.His158Pro) n.369A>C c.454A>C n.1004A>C n.971A>C | |
19 | g.11107428A>G | CA404080674 | LDLR | c.1112A>G (p.His371Arg) c.854A>G (p.His285Arg) c.1108A>G c.350A>G (p.His117Arg) c.731A>G (p.His244Arg) c.473A>G (p.His158Arg) n.369A>G c.454A>G n.1004A>G n.971A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11107428A>T | CA404080676 | LDLR | c.1112A>T (p.His371Leu) c.854A>T (p.His285Leu) c.1108A>T c.350A>T (p.His117Leu) c.731A>T (p.His244Leu) c.473A>T (p.His158Leu) n.369A>T c.454A>T n.1004A>T n.971A>T | |
19 | g.11107429C>A | CA10585161 | LDLR | c.1113C>A (p.His371Gln) c.855C>A (p.His285Gln) c.1109C>A c.351C>A (p.His117Gln) c.732C>A (p.His244Gln) c.474C>A (p.His158Gln) n.370C>A c.455C>A n.1005C>A n.972C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107429C= | CA2322768589 | LDLR | c.1113C= (p.His371=) c.855C= (p.His285=) c.1109C= c.351C= (p.His117=) c.732C= (p.His244=) c.474C= (p.His158=) n.370C= c.455C= n.1005C= n.972C= | |
19 | g.11107429C>G | CA404080680 | LDLR | c.1113C>G (p.His371Gln) c.855C>G (p.His285Gln) c.1109C>G c.351C>G (p.His117Gln) c.732C>G (p.His244Gln) c.474C>G (p.His158Gln) n.370C>G c.455C>G n.1005C>G n.972C>G | |
19 | g.11107429C>T | CA505485071 | LDLR | c.1113C>T (p.His371=) c.855C>T (p.His285=) c.1109C>T c.351C>T (p.His117=) c.732C>T (p.His244=) c.474C>T (p.His158=) n.370C>T c.455C>T n.1005C>T n.972C>T | dbSNP gnomAD v4 |
19 | g.11107430A= | CA2322768590 | LDLR | c.1114A= (p.Ser372=) c.856A= (p.Ser286=) c.1110A= c.352A= (p.Ser118=) c.733A= (p.Ser245=) c.475A= (p.Ser159=) n.371A= c.456A= n.1006A= n.973A= | |
19 | g.11107430A>C | CA404080682 | LDLR | c.1114A>C (p.Ser372Arg) c.856A>C (p.Ser286Arg) c.1110A>C c.352A>C (p.Ser118Arg) c.733A>C (p.Ser245Arg) c.475A>C (p.Ser159Arg) n.371A>C c.456A>C n.1006A>C n.973A>C | |
19 | g.11107430A>G | CA404080689 | LDLR | c.1114A>G (p.Ser372Gly) c.856A>G (p.Ser286Gly) c.1110A>G c.352A>G (p.Ser118Gly) c.733A>G (p.Ser245Gly) c.475A>G (p.Ser159Gly) n.371A>G c.456A>G n.1006A>G n.973A>G | ClinVar dbSNP |
19 | g.11107430A>T | CA404080691 | LDLR | c.1114A>T (p.Ser372Cys) c.856A>T (p.Ser286Cys) c.1110A>T c.352A>T (p.Ser118Cys) c.733A>T (p.Ser245Cys) c.475A>T (p.Ser159Cys) n.371A>T c.456A>T n.1006A>T n.973A>T | |
19 | g.11107431G>A | CA404080693 | LDLR | c.1115G>A (p.Ser372Asn) c.857G>A (p.Ser286Asn) c.1111G>A c.353G>A (p.Ser118Asn) c.734G>A (p.Ser245Asn) c.476G>A (p.Ser159Asn) n.372G>A c.457G>A n.1007G>A n.974G>A | |
19 | g.11107431G>C | CA404080695 | LDLR | c.1115G>C (p.Ser372Thr) c.857G>C (p.Ser286Thr) c.1111G>C c.353G>C (p.Ser118Thr) c.734G>C (p.Ser245Thr) c.476G>C (p.Ser159Thr) n.372G>C c.457G>C n.1007G>C n.974G>C | |
19 | g.11107431G>T | CA404080696 | LDLR | c.1115G>T (p.Ser372Ile) c.857G>T (p.Ser286Ile) c.1111G>T c.353G>T (p.Ser118Ile) c.734G>T (p.Ser245Ile) c.476G>T (p.Ser159Ile) n.372G>T c.457G>T n.1007G>T n.974G>T | |
19 | g.11107431dup | CA2840305535 | LDLR | c.1115dup (p.Ser372ArgfsTer15) c.857dup (p.Ser286ArgfsTer15) c.1111dup c.353dup (p.Ser118ArgfsTer15) c.734dup (p.Ser245ArgfsTer15) c.476dup (p.Ser159ArgfsTer15) n.372dup c.457dup n.1007dup n.974dup | |
19 | g.11107432C>A | CA029904 | LDLR | c.1116C>A (p.Ser372Arg) c.858C>A (p.Ser286Arg) c.1112C>A c.354C>A (p.Ser118Arg) c.735C>A (p.Ser245Arg) c.477C>A (p.Ser159Arg) n.373C>A c.458C>A n.1008C>A n.975C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107432C= | CA2322768591 | LDLR | c.1116C= (p.Ser372=) c.858C= (p.Ser286=) c.1112C= c.354C= (p.Ser118=) c.735C= (p.Ser245=) c.477C= (p.Ser159=) n.373C= c.458C= n.1008C= n.975C= | |
19 | g.11107432C>G | CA404080699 | LDLR | c.1116C>G (p.Ser372Arg) c.858C>G (p.Ser286Arg) c.1112C>G c.354C>G (p.Ser118Arg) c.735C>G (p.Ser245Arg) c.477C>G (p.Ser159Arg) n.373C>G c.458C>G n.1008C>G n.975C>G | |
19 | g.11107432C>T | CA029921 | LDLR | c.1116C>T (p.Ser372=) c.858C>T (p.Ser286=) c.1112C>T c.354C>T (p.Ser118=) c.735C>T (p.Ser245=) c.477C>T (p.Ser159=) n.373C>T c.458C>T n.1008C>T n.975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107432_11107433delinsCG | CA2322768592 | LDLR | c.1116_1117delinsCG (p.Ser372=) c.858_859delinsCG (p.Ser286=) c.1112_1113delinsCG c.354_355delinsCG (p.Ser118=) c.735_736delinsCG (p.Ser245=) c.477_478delinsCG (p.Ser159=) n.373_374delinsCG c.458_459delinsCG n.1008_1009delinsCG n.975_976delinsCG | |
19 | g.11107433G>A | CA023782 | LDLR | c.1117G>A (p.Gly373Ser) c.859G>A (p.Gly287Ser) c.1113G>A c.355G>A (p.Gly119Ser) c.736G>A (p.Gly246Ser) c.478G>A (p.Gly160Ser) n.374G>A c.459G>A n.1009G>A n.976G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107433G>C | CA404080727 | LDLR | c.1117G>C (p.Gly373Arg) c.859G>C (p.Gly287Arg) c.1113G>C c.355G>C (p.Gly119Arg) c.736G>C (p.Gly246Arg) c.478G>C (p.Gly160Arg) n.374G>C c.459G>C n.1009G>C n.976G>C | |
19 | g.11107433G= | CA2322768593 | LDLR | c.1117G= (p.Gly373=) c.859G= (p.Gly287=) c.1113G= c.355G= (p.Gly119=) c.736G= (p.Gly246=) c.478G= (p.Gly160=) n.374G= c.459G= n.1009G= n.976G= | |
19 | g.11107433G>T | CA10585162 | LDLR | c.1117G>T (p.Gly373Cys) c.859G>T (p.Gly287Cys) c.1113G>T c.355G>T (p.Gly119Cys) c.736G>T (p.Gly246Cys) c.478G>T (p.Gly160Cys) n.374G>T c.459G>T n.1009G>T n.976G>T | ClinVar dbSNP |
19 | g.11107434del | CA645373254 | LDLR | c.1118del (p.Gly373AlafsTer?) c.860del (p.Gly287AlafsTer?) c.1114del c.356del (p.Gly119AlafsTer?) c.737del (p.Gly246AlafsTer?) c.479del (p.Gly160AlafsTer?) n.375del c.460del n.1010del n.977del | ClinVar dbSNP |
19 | g.11107434G>A | CA404080735 | LDLR | c.1118G>A (p.Gly373Asp) c.860G>A (p.Gly287Asp) c.1114G>A c.356G>A (p.Gly119Asp) c.737G>A (p.Gly246Asp) c.479G>A (p.Gly160Asp) n.375G>A c.460G>A n.1010G>A n.977G>A | |
19 | g.11107434G>C | CA404080741 | LDLR | c.1118G>C (p.Gly373Ala) c.860G>C (p.Gly287Ala) c.1114G>C c.356G>C (p.Gly119Ala) c.737G>C (p.Gly246Ala) c.479G>C (p.Gly160Ala) n.375G>C c.460G>C n.1010G>C n.977G>C | |
19 | g.11107434G>T | CA404080743 | LDLR | c.1118G>T (p.Gly373Val) c.860G>T (p.Gly287Val) c.1114G>T c.356G>T (p.Gly119Val) c.737G>T (p.Gly246Val) c.479G>T (p.Gly160Val) n.375G>T c.460G>T n.1010G>T n.977G>T | |
19 | g.11107435C>A | CA505485072 | LDLR | c.1119C>A (p.Gly373=) c.861C>A (p.Gly287=) c.1115C>A c.357C>A (p.Gly119=) c.738C>A (p.Gly246=) c.480C>A (p.Gly160=) n.376C>A c.461C>A n.1011C>A n.978C>A | |
19 | g.11107435C= | CA2322768594 | LDLR | c.1119C= (p.Gly373=) c.861C= (p.Gly287=) c.1115C= c.357C= (p.Gly119=) c.738C= (p.Gly246=) c.480C= (p.Gly160=) n.376C= c.461C= n.1011C= n.978C= | |
19 | g.11107435C>G | CA505485073 | LDLR | c.1119C>G (p.Gly373=) c.861C>G (p.Gly287=) c.1115C>G c.357C>G (p.Gly119=) c.738C>G (p.Gly246=) c.480C>G (p.Gly160=) n.376C>G c.461C>G n.1011C>G n.978C>G | |
19 | g.11107435C>T | CA029955 | LDLR | c.1119C>T (p.Gly373=) c.861C>T (p.Gly287=) c.1115C>T c.357C>T (p.Gly119=) c.738C>T (p.Gly246=) c.480C>T (p.Gly160=) n.376C>T c.461C>T n.1011C>T n.978C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107436G>A | CA023783 | LDLR | c.1120G>A (p.Glu374Lys) c.862G>A (p.Glu288Lys) c.1116G>A c.358G>A (p.Glu120Lys) c.739G>A (p.Glu247Lys) c.481G>A (p.Glu161Lys) n.377G>A c.462G>A n.1012G>A n.979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11107436G>C | CA404080752 | LDLR | c.1120G>C (p.Glu374Gln) c.862G>C (p.Glu288Gln) c.1116G>C c.358G>C (p.Glu120Gln) c.739G>C (p.Glu247Gln) c.481G>C (p.Glu161Gln) n.377G>C c.462G>C n.1012G>C n.979G>C | |
19 | g.11107436G= | CA2322768595 | LDLR | c.1120G= (p.Glu374=) c.862G= (p.Glu288=) c.1116G= c.358G= (p.Glu120=) c.739G= (p.Glu247=) c.481G= (p.Glu161=) n.377G= c.462G= n.1012G= n.979G= | |
19 | g.11107436G>T | CA10585163 | LDLR | c.1120G>T (p.Glu374Ter) c.862G>T (p.Glu288Ter) c.1116G>T c.358G>T (p.Glu120Ter) c.739G>T (p.Glu247Ter) c.481G>T (p.Glu161Ter) n.377G>T c.462G>T n.1012G>T n.979G>T | ClinVar dbSNP |
19 | g.11107437A>C | CA404080759 | LDLR | c.1121A>C (p.Glu374Ala) c.863A>C (p.Glu288Ala) c.1117A>C c.359A>C (p.Glu120Ala) c.740A>C (p.Glu247Ala) c.482A>C (p.Glu161Ala) n.378A>C c.463A>C n.1013A>C n.980A>C | |
19 | g.11107437A>G | CA404080762 | LDLR | c.1121A>G (p.Glu374Gly) c.863A>G (p.Glu288Gly) c.1117A>G c.359A>G (p.Glu120Gly) c.740A>G (p.Glu247Gly) c.482A>G (p.Glu161Gly) n.378A>G c.463A>G n.1013A>G n.980A>G | |
19 | g.11107437A>T | CA404080766 | LDLR | c.1121A>T (p.Glu374Val) c.863A>T (p.Glu288Val) c.1117A>T c.359A>T (p.Glu120Val) c.740A>T (p.Glu247Val) c.482A>T (p.Glu161Val) n.378A>T c.463A>T n.1013A>T n.980A>T | |
19 | g.11107438A>C | CA404080769 | LDLR | c.1122A>C (p.Glu374Asp) c.864A>C (p.Glu288Asp) c.1118A>C c.360A>C (p.Glu120Asp) c.741A>C (p.Glu247Asp) c.483A>C (p.Glu161Asp) n.379A>C c.464A>C n.1014A>C n.981A>C | |
19 | g.11107438A>G | CA505485074 | LDLR | c.1122A>G (p.Glu374=) c.864A>G (p.Glu288=) c.1118A>G c.360A>G (p.Glu120=) c.741A>G (p.Glu247=) c.483A>G (p.Glu161=) n.379A>G c.464A>G n.1014A>G n.981A>G | |
19 | g.11107438A>T | CA404080767 | LDLR | c.1122A>T (p.Glu374Asp) c.864A>T (p.Glu288Asp) c.1118A>T c.360A>T (p.Glu120Asp) c.741A>T (p.Glu247Asp) c.483A>T (p.Glu161Asp) n.379A>T c.464A>T n.1014A>T n.981A>T | |
19 | g.11107438_11107439delinsAT | CA2322768596 | LDLR | c.1122_1123delinsAT (p.Glu374=) c.864_865delinsAT (p.Glu288=) c.1118_1119delinsAT c.360_361delinsAT (p.Glu120=) c.741_742delinsAT (p.Glu247=) c.483_484delinsAT (p.Glu161=) n.379_380delinsAT c.464_465delinsAT n.1014_1015delinsAT n.981_982delinsAT | |
19 | g.11107439del | CA10585165 | LDLR | c.1123del (p.Cys375AlafsTer?) c.865del (p.Cys289AlafsTer?) c.1119del c.361del (p.Cys121AlafsTer?) c.742del (p.Cys248AlafsTer?) c.484del (p.Cys162AlafsTer?) n.380del c.465del n.1015del n.982del | ClinVar dbSNP |
19 | g.11107439T>A | CA404080775 | LDLR | c.1123T>A (p.Cys375Ser) c.865T>A (p.Cys289Ser) c.1119T>A c.361T>A (p.Cys121Ser) c.742T>A (p.Cys248Ser) c.484T>A (p.Cys162Ser) n.380T>A c.465T>A n.1015T>A n.982T>A | |
19 | g.11107439T>C | CA10585164 | LDLR | c.1123T>C (p.Cys375Arg) c.865T>C (p.Cys289Arg) c.1119T>C c.361T>C (p.Cys121Arg) c.742T>C (p.Cys248Arg) c.484T>C (p.Cys162Arg) n.380T>C c.465T>C n.1015T>C n.982T>C | ClinVar dbSNP |
19 | g.11107439T>G | CA404080780 | LDLR | c.1123T>G (p.Cys375Gly) c.865T>G (p.Cys289Gly) c.1119T>G c.361T>G (p.Cys121Gly) c.742T>G (p.Cys248Gly) c.484T>G (p.Cys162Gly) n.380T>G c.465T>G n.1015T>G n.982T>G | ClinVar dbSNP |
19 | g.11107439T= | CA2322768597 | LDLR | c.1123T= (p.Cys375=) c.865T= (p.Cys289=) c.1119T= c.361T= (p.Cys121=) c.742T= (p.Cys248=) c.484T= (p.Cys162=) n.380T= c.465T= n.1015T= n.982T= | |
19 | g.11107440G>A | CA404080788 | LDLR | c.1124G>A (p.Cys375Tyr) c.866G>A (p.Cys289Tyr) c.1120G>A c.362G>A (p.Cys121Tyr) c.743G>A (p.Cys248Tyr) c.485G>A (p.Cys162Tyr) n.381G>A c.466G>A n.1016G>A n.983G>A | ClinVar dbSNP |
19 | g.11107440G>C | CA404080791 | LDLR | c.1124G>C (p.Cys375Ser) c.866G>C (p.Cys289Ser) c.1120G>C c.362G>C (p.Cys121Ser) c.743G>C (p.Cys248Ser) c.485G>C (p.Cys162Ser) n.381G>C c.466G>C n.1016G>C n.983G>C | gnomAD v4 |
19 | g.11107440G= | CA2322768598 | LDLR | c.1124G= (p.Cys375=) c.866G= (p.Cys289=) c.1120G= c.362G= (p.Cys121=) c.743G= (p.Cys248=) c.485G= (p.Cys162=) n.381G= c.466G= n.1016G= n.983G= | |
19 | g.11107440G>T | CA404080793 | LDLR | c.1124G>T (p.Cys375Phe) c.866G>T (p.Cys289Phe) c.1120G>T c.362G>T (p.Cys121Phe) c.743G>T (p.Cys248Phe) c.485G>T (p.Cys162Phe) n.381G>T c.466G>T n.1016G>T n.983G>T | |
19 | g.11107441C>A | CA404080801 | LDLR | c.1125C>A (p.Cys375Ter) c.867C>A (p.Cys289Ter) c.1121C>A c.363C>A (p.Cys121Ter) c.744C>A (p.Cys248Ter) c.486C>A (p.Cys162Ter) n.382C>A c.467C>A n.1017C>A n.984C>A | ClinVar |
19 | g.11107441C>G | CA404080804 | LDLR | c.1125C>G (p.Cys375Trp) c.867C>G (p.Cys289Trp) c.1121C>G c.363C>G (p.Cys121Trp) c.744C>G (p.Cys248Trp) c.486C>G (p.Cys162Trp) n.382C>G c.467C>G n.1017C>G n.984C>G | |
19 | g.11107441C>T | CA505485075 | LDLR | c.1125C>T (p.Cys375=) c.867C>T (p.Cys289=) c.1121C>T c.363C>T (p.Cys121=) c.744C>T (p.Cys248=) c.486C>T (p.Cys162=) n.382C>T c.467C>T n.1017C>T n.984C>T | ClinVar gnomAD v4 |
19 | g.11107443_11107445dup | CA10585167 | LDLR | c.1127_1129dup (p.Ile376_Thr377insIle) c.869_871dup (p.Ile290_Thr291insIle) c.1123_1125dup c.365_367dup (p.Ile122_Thr123insIle) c.746_748dup (p.Ile249_Thr250insIle) c.488_490dup (p.Ile163_Thr164insIle) n.384_386dup c.469_471dup n.1019_1021dup n.986_988dup | ClinVar dbSNP |
19 | g.11107442A>C | CA404080808 | LDLR | c.1126A>C (p.Ile376Leu) c.868A>C (p.Ile290Leu) c.1122A>C c.364A>C (p.Ile122Leu) c.745A>C (p.Ile249Leu) c.487A>C (p.Ile163Leu) n.383A>C c.468A>C n.1018A>C n.985A>C | |
19 | g.11107442A>G | CA404080813 | LDLR | c.1126A>G (p.Ile376Val) c.868A>G (p.Ile290Val) c.1122A>G c.364A>G (p.Ile122Val) c.745A>G (p.Ile249Val) c.487A>G (p.Ile163Val) n.383A>G c.468A>G n.1018A>G n.985A>G | |
19 | g.11107442A>T | CA404080816 | LDLR | c.1126A>T (p.Ile376Phe) c.868A>T (p.Ile290Phe) c.1122A>T c.364A>T (p.Ile122Phe) c.745A>T (p.Ile249Phe) c.487A>T (p.Ile163Phe) n.383A>T c.468A>T n.1018A>T n.985A>T | |
19 | g.11107443T>A | CA404080819 | LDLR | c.1127T>A (p.Ile376Asn) c.869T>A (p.Ile290Asn) c.1123T>A c.365T>A (p.Ile122Asn) c.746T>A (p.Ile249Asn) c.488T>A (p.Ile163Asn) n.384T>A c.469T>A n.1019T>A n.986T>A | |
19 | g.11107443T>C | CA404080822 | LDLR | c.1127T>C (p.Ile376Thr) c.869T>C (p.Ile290Thr) c.1123T>C c.365T>C (p.Ile122Thr) c.746T>C (p.Ile249Thr) c.488T>C (p.Ile163Thr) n.384T>C c.469T>C n.1019T>C n.986T>C | |
19 | g.11107443T>G | CA10585166 | LDLR | c.1127T>G (p.Ile376Ser) c.869T>G (p.Ile290Ser) c.1123T>G c.365T>G (p.Ile122Ser) c.746T>G (p.Ile249Ser) c.488T>G (p.Ile163Ser) n.384T>G c.469T>G n.1019T>G n.986T>G | ClinVar dbSNP |
19 | g.11107443T= | CA2322768599 | LDLR | c.1127T= (p.Ile376=) c.869T= (p.Ile290=) c.1123T= c.365T= (p.Ile122=) c.746T= (p.Ile249=) c.488T= (p.Ile163=) n.384T= c.469T= n.1019T= n.986T= | |
19 | g.11107444C>A | CA505485077 | LDLR | c.1128C>A (p.Ile376=) c.870C>A (p.Ile290=) c.1124C>A c.366C>A (p.Ile122=) c.747C>A (p.Ile249=) c.489C>A (p.Ile163=) n.385C>A c.470C>A n.1020C>A n.987C>A | |
19 | g.11107444C>G | CA404080827 | LDLR | c.1128C>G (p.Ile376Met) c.870C>G (p.Ile290Met) c.1124C>G c.366C>G (p.Ile122Met) c.747C>G (p.Ile249Met) c.489C>G (p.Ile163Met) n.385C>G c.470C>G n.1020C>G n.987C>G | |
19 | g.11107444C>T | CA505485076 | LDLR | c.1128C>T (p.Ile376=) c.870C>T (p.Ile290=) c.1124C>T c.366C>T (p.Ile122=) c.747C>T (p.Ile249=) c.489C>T (p.Ile163=) n.385C>T c.470C>T n.1020C>T n.987C>T | |
19 | g.11107445A= | CA2322768600 | LDLR | c.1129A= (p.Thr377=) c.871A= (p.Thr291=) c.1125A= c.367A= (p.Thr123=) c.748A= (p.Thr250=) c.490A= (p.Thr164=) n.386A= c.471A= n.1021A= n.988A= | |
19 | g.11107445A>C | CA029979 | LDLR | c.1129A>C (p.Thr377Pro) c.871A>C (p.Thr291Pro) c.1125A>C c.367A>C (p.Thr123Pro) c.748A>C (p.Thr250Pro) c.490A>C (p.Thr164Pro) n.386A>C c.471A>C n.1021A>C n.988A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107445A>G | CA404080832 | LDLR | c.1129A>G (p.Thr377Ala) c.871A>G (p.Thr291Ala) c.1125A>G c.367A>G (p.Thr123Ala) c.748A>G (p.Thr250Ala) c.490A>G (p.Thr164Ala) n.386A>G c.471A>G n.1021A>G n.988A>G | |
19 | g.11107445A>T | CA404080829 | LDLR | c.1129A>T (p.Thr377Ser) c.871A>T (p.Thr291Ser) c.1125A>T c.367A>T (p.Thr123Ser) c.748A>T (p.Thr250Ser) c.490A>T (p.Thr164Ser) n.386A>T c.471A>T n.1021A>T n.988A>T | |
19 | g.11107445_11107446delinsAC | CA2322768601 | LDLR | c.1129_1130delinsAC (p.Thr377=) c.871_872delinsAC (p.Thr291=) c.1125_1126delinsAC c.367_368delinsAC (p.Thr123=) c.748_749delinsAC (p.Thr250=) c.490_491delinsAC (p.Thr164=) n.386_387delinsAC c.471_472delinsAC n.1021_1022delinsAC n.988_989delinsAC | |
19 | g.11107446C>A | CA404080840 | LDLR | c.1130C>A (p.Thr377Asn) c.872C>A (p.Thr291Asn) c.1126C>A c.368C>A (p.Thr123Asn) c.749C>A (p.Thr250Asn) c.491C>A (p.Thr164Asn) n.387C>A c.472C>A n.1022C>A n.989C>A | |
19 | g.11107446C>G | CA404080844 | LDLR | c.1130C>G (p.Thr377Ser) c.872C>G (p.Thr291Ser) c.1126C>G c.368C>G (p.Thr123Ser) c.749C>G (p.Thr250Ser) c.491C>G (p.Thr164Ser) n.387C>G c.472C>G n.1022C>G n.989C>G | |
19 | g.11107446C>T | CA404080847 | LDLR | c.1130C>T (p.Thr377Ile) c.872C>T (p.Thr291Ile) c.1126C>T c.368C>T (p.Thr123Ile) c.749C>T (p.Thr250Ile) c.491C>T (p.Thr164Ile) n.387C>T c.472C>T n.1022C>T n.989C>T | |
19 | g.11107448del | CA10585168 | LDLR | c.1132del (p.Leu378TrpfsTer?) c.874del (p.Leu292TrpfsTer?) c.1128del c.370del (p.Leu124TrpfsTer?) c.751del (p.Leu251TrpfsTer?) c.493del (p.Leu165TrpfsTer?) n.389del c.474del n.1024del n.991del | ClinVar dbSNP |
19 | g.11107447C>A | CA505485078 | LDLR | c.1131C>A (p.Thr377=) c.873C>A (p.Thr291=) c.1127C>A c.369C>A (p.Thr123=) c.750C>A (p.Thr250=) c.492C>A (p.Thr164=) n.388C>A c.473C>A n.1023C>A n.990C>A | ClinVar gnomAD v4 |
19 | g.11107447C>G | CA505485079 | LDLR | c.1131C>G (p.Thr377=) c.873C>G (p.Thr291=) c.1127C>G c.369C>G (p.Thr123=) c.750C>G (p.Thr250=) c.492C>G (p.Thr164=) n.388C>G c.473C>G n.1023C>G n.990C>G | |
19 | g.11107447C>T | CA505485080 | LDLR | c.1131C>T (p.Thr377=) c.873C>T (p.Thr291=) c.1127C>T c.369C>T (p.Thr123=) c.750C>T (p.Thr250=) c.492C>T (p.Thr164=) n.388C>T c.473C>T n.1023C>T n.990C>T | ClinVar |
19 | g.11107448C>A | CA404080852 | LDLR | c.1132C>A (p.Leu378Met) c.874C>A (p.Leu292Met) c.1128C>A c.370C>A (p.Leu124Met) c.751C>A (p.Leu251Met) c.493C>A (p.Leu165Met) n.389C>A c.474C>A n.1024C>A n.991C>A | |
19 | g.11107448C= | CA2322768602 | LDLR | c.1132C= (p.Leu378=) c.874C= (p.Leu292=) c.1128C= c.370C= (p.Leu124=) c.751C= (p.Leu251=) c.493C= (p.Leu165=) n.389C= c.474C= n.1024C= n.991C= | |
19 | g.11107448C>G | CA404080856 | LDLR | c.1132C>G (p.Leu378Val) c.874C>G (p.Leu292Val) c.1128C>G c.370C>G (p.Leu124Val) c.751C>G (p.Leu251Val) c.493C>G (p.Leu165Val) n.389C>G c.474C>G n.1024C>G n.991C>G | |
19 | g.11107448C>T | CA029996 | LDLR | c.1132C>T (p.Leu378=) c.874C>T (p.Leu292=) c.1128C>T c.370C>T (p.Leu124=) c.751C>T (p.Leu251=) c.493C>T (p.Leu165=) n.389C>T c.474C>T n.1024C>T n.991C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107449T>A | CA404080868 | LDLR | c.1133T>A (p.Leu378Gln) c.875T>A (p.Leu292Gln) c.1129T>A c.371T>A (p.Leu124Gln) c.752T>A (p.Leu251Gln) c.494T>A (p.Leu165Gln) n.390T>A c.475T>A n.1025T>A n.992T>A | gnomAD v4 |
19 | g.11107449T>C | CA404080872 | LDLR | c.1133T>C (p.Leu378Pro) c.875T>C (p.Leu292Pro) c.1129T>C c.371T>C (p.Leu124Pro) c.752T>C (p.Leu251Pro) c.494T>C (p.Leu165Pro) n.390T>C c.475T>C n.1025T>C n.992T>C | |
19 | g.11107449T>G | CA404080875 | LDLR | c.1133T>G (p.Leu378Arg) c.875T>G (p.Leu292Arg) c.1129T>G c.371T>G (p.Leu124Arg) c.752T>G (p.Leu251Arg) c.494T>G (p.Leu165Arg) n.390T>G c.475T>G n.1025T>G n.992T>G | |
19 | g.11107449dup | CA10585169 | LDLR | c.1133dup (p.Asp379GlyfsTer8) c.875dup (p.Asp293GlyfsTer8) c.1129dup c.371dup (p.Asp125GlyfsTer8) c.752dup (p.Asp252GlyfsTer8) c.494dup (p.Asp166GlyfsTer8) n.390dup c.475dup n.1025dup n.992dup | ClinVar dbSNP |
19 | g.11107449_11107450delinsTG | CA2322768603 | LDLR | c.1133_1134delinsTG (p.Leu378=) c.875_876delinsTG (p.Leu292=) c.1129_1130delinsTG c.371_372delinsTG (p.Leu124=) c.752_753delinsTG (p.Leu251=) c.494_495delinsTG (p.Leu165=) n.390_391delinsTG c.475_476delinsTG n.1025_1026delinsTG n.992_993delinsTG | |
19 | g.11107450G>A | CA505485083 | LDLR | c.1134G>A (p.Leu378=) c.876G>A (p.Leu292=) c.1130G>A c.372G>A (p.Leu124=) c.753G>A (p.Leu251=) c.495G>A (p.Leu165=) n.391G>A c.476G>A n.1026G>A n.993G>A | dbSNP gnomAD v4 |
19 | g.11107450G>C | CA505485082 | LDLR | c.1134G>C (p.Leu378=) c.876G>C (p.Leu292=) c.1130G>C c.372G>C (p.Leu124=) c.753G>C (p.Leu251=) c.495G>C (p.Leu165=) n.391G>C c.476G>C n.1026G>C n.993G>C | |
19 | g.11107450G>T | CA505485081 | LDLR | c.1134G>T (p.Leu378=) c.876G>T (p.Leu292=) c.1130G>T c.372G>T (p.Leu124=) c.753G>T (p.Leu251=) c.495G>T (p.Leu165=) n.391G>T c.476G>T n.1026G>T n.993G>T | gnomAD v4 |
19 | g.11107451dup | CA2695228119 | LDLR | c.1135dup (p.Asp379GlyfsTer8) c.877dup (p.Asp293GlyfsTer8) c.1131dup c.373dup (p.Asp125GlyfsTer8) c.754dup (p.Asp252GlyfsTer8) c.496dup (p.Asp166GlyfsTer8) n.392dup c.477dup n.1027dup n.994dup | |
19 | g.11107451del | CA10585170 | LDLR | c.1135del (p.Asp379ThrfsTer?) c.877del (p.Asp293ThrfsTer?) c.1131del c.373del (p.Asp125ThrfsTer?) c.754del (p.Asp252ThrfsTer?) c.496del (p.Asp166ThrfsTer?) n.392del c.477del n.1027del n.994del | ClinVar dbSNP |
19 | g.11107451G>A | CA404080883 | LDLR | c.1135G>A (p.Asp379Asn) c.877G>A (p.Asp293Asn) c.1131G>A c.373G>A (p.Asp125Asn) c.754G>A (p.Asp252Asn) c.496G>A (p.Asp166Asn) n.392G>A c.477G>A n.1027G>A n.994G>A | |
19 | g.11107451G>C | CA404080886 | LDLR | c.1135G>C (p.Asp379His) c.877G>C (p.Asp293His) c.1131G>C c.373G>C (p.Asp125His) c.754G>C (p.Asp252His) c.496G>C (p.Asp166His) n.392G>C c.477G>C n.1027G>C n.994G>C | |
19 | g.11107451G>T | CA404080889 | LDLR | c.1135G>T (p.Asp379Tyr) c.877G>T (p.Asp293Tyr) c.1131G>T c.373G>T (p.Asp125Tyr) c.754G>T (p.Asp252Tyr) c.496G>T (p.Asp166Tyr) n.392G>T c.477G>T n.1027G>T n.994G>T | |
19 | g.11107452A>C | CA404080895 | LDLR | c.1136A>C (p.Asp379Ala) c.878A>C (p.Asp293Ala) c.1132A>C c.374A>C (p.Asp125Ala) c.755A>C (p.Asp252Ala) c.497A>C (p.Asp166Ala) n.393A>C c.478A>C n.1028A>C n.995A>C | |
19 | g.11107452A>G | CA404080893 | LDLR | c.1136A>G (p.Asp379Gly) c.878A>G (p.Asp293Gly) c.1132A>G c.374A>G (p.Asp125Gly) c.755A>G (p.Asp252Gly) c.497A>G (p.Asp166Gly) n.393A>G c.478A>G n.1028A>G n.995A>G | |
19 | g.11107452A>T | CA404080898 | LDLR | c.1136A>T (p.Asp379Val) c.878A>T (p.Asp293Val) c.1132A>T c.374A>T (p.Asp125Val) c.755A>T (p.Asp252Val) c.497A>T (p.Asp166Val) n.393A>T c.478A>T n.1028A>T n.995A>T | |
19 | g.11107453C>A | CA404080901 | LDLR | c.1137C>A (p.Asp379Glu) c.879C>A (p.Asp293Glu) c.1133C>A c.375C>A (p.Asp125Glu) c.756C>A (p.Asp252Glu) c.498C>A (p.Asp166Glu) n.394C>A c.479C>A n.1029C>A n.996C>A | |
19 | g.11107453C>G | CA404080903 | LDLR | c.1137C>G (p.Asp379Glu) c.879C>G (p.Asp293Glu) c.1133C>G c.375C>G (p.Asp125Glu) c.756C>G (p.Asp252Glu) c.498C>G (p.Asp166Glu) n.394C>G c.479C>G n.1029C>G n.996C>G | |
19 | g.11107453C>T | CA505485084 | LDLR | c.1137C>T (p.Asp379=) c.879C>T (p.Asp293=) c.1133C>T c.375C>T (p.Asp125=) c.756C>T (p.Asp252=) c.498C>T (p.Asp166=) n.394C>T c.479C>T n.1029C>T n.996C>T | |
19 | g.11107453_11107455delinsCAA | CA2322768604 | LDLR | c.1137_1139delinsCAA (p.Asp379=) c.879_881delinsCAA (p.Asp293=) c.1133_1135delinsCAA c.375_377delinsCAA (p.Asp125=) c.756_758delinsCAA (p.Asp252=) c.498_500delinsCAA (p.Asp166=) n.394_396delinsCAA c.479_481delinsCAA n.1029_1031delinsCAA n.996_998delinsCAA | |
19 | g.11107454A= | CA2322768605 | LDLR | c.1138A= (p.Lys380=) c.880A= (p.Lys294=) c.1134A= c.376A= (p.Lys126=) c.757A= (p.Lys253=) c.499A= (p.Lys167=) n.395A= c.480A= n.1030A= n.997A= | |
19 | g.11107454A>C | CA404080906 | LDLR | c.1138A>C (p.Lys380Gln) c.880A>C (p.Lys294Gln) c.1134A>C c.376A>C (p.Lys126Gln) c.757A>C (p.Lys253Gln) c.499A>C (p.Lys167Gln) n.395A>C c.480A>C n.1030A>C n.997A>C | |
19 | g.11107454A>G | CA10585171 | LDLR | c.1138A>G (p.Lys380Glu) c.880A>G (p.Lys294Glu) c.1134A>G c.376A>G (p.Lys126Glu) c.757A>G (p.Lys253Glu) c.499A>G (p.Lys167Glu) n.395A>G c.480A>G n.1030A>G n.997A>G | ClinVar dbSNP |
19 | g.11107454A>T | CA404080909 | LDLR | c.1138A>T (p.Lys380Ter) c.880A>T (p.Lys294Ter) c.1134A>T c.376A>T (p.Lys126Ter) c.757A>T (p.Lys253Ter) c.499A>T (p.Lys167Ter) n.395A>T c.480A>T n.1030A>T n.997A>T | |
19 | g.11107455_11107456del | CA10585172 | LDLR | c.1139_1140del (p.Lys380SerfsTer6) c.881_882del (p.Lys294SerfsTer6) c.1135_1136del c.377_378del (p.Lys126SerfsTer6) c.758_759del (p.Lys253SerfsTer6) c.500_501del (p.Lys167SerfsTer6) n.396_397del c.481_482del n.1031_1032del n.998_999del | ClinVar dbSNP |
19 | g.11107455A= | CA2322768606 | LDLR | c.1139A= (p.Lys380=) c.881A= (p.Lys294=) c.1135A= c.377A= (p.Lys126=) c.758A= (p.Lys253=) c.500A= (p.Lys167=) n.396A= c.481A= n.1031A= n.998A= | |
19 | g.11107455A>C | CA404080911 | LDLR | c.1139A>C (p.Lys380Thr) c.881A>C (p.Lys294Thr) c.1135A>C c.377A>C (p.Lys126Thr) c.758A>C (p.Lys253Thr) c.500A>C (p.Lys167Thr) n.396A>C c.481A>C n.1031A>C n.998A>C | |
19 | g.11107455A>G | CA305298511 | LDLR | c.1139A>G (p.Lys380Arg) c.881A>G (p.Lys294Arg) c.1135A>G c.377A>G (p.Lys126Arg) c.758A>G (p.Lys253Arg) c.500A>G (p.Lys167Arg) n.396A>G c.481A>G n.1031A>G n.998A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11107455A>T | CA404080913 | LDLR | c.1139A>T (p.Lys380Ile) c.881A>T (p.Lys294Ile) c.1135A>T c.377A>T (p.Lys126Ile) c.758A>T (p.Lys253Ile) c.500A>T (p.Lys167Ile) n.396A>T c.481A>T n.1031A>T n.998A>T | |
19 | g.11107455_11107457delinsAAG | CA2322768607 | LDLR | c.1139_1141delinsAAG (p.Lys380=) c.881_883delinsAAG (p.Lys294=) c.1135_1137delinsAAG c.377_379delinsAAG (p.Lys126=) c.758_760delinsAAG (p.Lys253=) c.500_502delinsAAG (p.Lys167=) n.396_398delinsAAG c.481_483delinsAAG n.1031_1033delinsAAG n.998_1000delinsAAG | |
19 | g.11107455_11107456insCATGTCTAGTCTCT | CA2582473987 | LDLR | c.1139_1140insCATGTCTAGTCTCT (p.Lys380AsnfsTer6) c.881_882insCATGTCTAGTCTCT (p.Lys294AsnfsTer6) c.1135_1136insCATGTCTAGTCTCT c.377_378insCATGTCTAGTCTCT (p.Lys126AsnfsTer6) c.758_759insCATGTCTAGTCTCT (p.Lys253AsnfsTer6) c.500_501insCATGTCTAGTCTCT (p.Lys167AsnfsTer6) n.396_397insCATGTCTAGTCTCT c.481_482insCATGTCTAGTCTCT n.1031_1032insCATGTCTAGTCTCT n.998_999insCATGTCTAGTCTCT | gnomAD v4 |
19 | g.11107456A>C | CA404080914 | LDLR | c.1140A>C (p.Lys380Asn) c.882A>C (p.Lys294Asn) c.1136A>C c.378A>C (p.Lys126Asn) c.759A>C (p.Lys253Asn) c.501A>C (p.Lys167Asn) n.397A>C c.482A>C n.1032A>C n.999A>C | gnomAD v4 |
19 | g.11107456A>G | CA505485085 | LDLR | c.1140A>G (p.Lys380=) c.882A>G (p.Lys294=) c.1136A>G c.378A>G (p.Lys126=) c.759A>G (p.Lys253=) c.501A>G (p.Lys167=) n.397A>G c.482A>G n.1032A>G n.999A>G | |
19 | g.11107456A>T | CA404080917 | LDLR | c.1140A>T (p.Lys380Asn) c.882A>T (p.Lys294Asn) c.1136A>T c.378A>T (p.Lys126Asn) c.759A>T (p.Lys253Asn) c.501A>T (p.Lys167Asn) n.397A>T c.482A>T n.1032A>T n.999A>T | |
19 | g.11107456_11107457del | CA645373255 | LDLR | c.1140_1141del (p.Lys380AsnfsTer6) c.882_883del (p.Lys294AsnfsTer6) c.1136_1137del c.378_379del (p.Lys126AsnfsTer6) c.759_760del (p.Lys253AsnfsTer6) c.501_502del (p.Lys167AsnfsTer6) n.397_398del c.482_483del n.1032_1033del n.999_1000del | ClinVar dbSNP |
19 | g.11107456_11107457delinsAG | CA2322768608 | LDLR | c.1140_1141delinsAG (p.Lys380=) c.882_883delinsAG (p.Lys294=) c.1136_1137delinsAG c.378_379delinsAG (p.Lys126=) c.759_760delinsAG (p.Lys253=) c.501_502delinsAG (p.Lys167=) n.397_398delinsAG c.482_483delinsAG n.1032_1033delinsAG n.999_1000delinsAG | |
19 | g.11107457del | CA1139666261 | LDLR | c.1141del (p.Val381SerfsTer?) c.883del (p.Val295SerfsTer?) c.1137del c.379del (p.Val127SerfsTer?) c.760del (p.Val254SerfsTer?) c.502del (p.Val168SerfsTer?) n.398del c.483del n.1033del n.1000del | ClinVar dbSNP |
19 | g.11107457G>A | CA404080919 | LDLR | c.1141G>A (p.Val381Ile) c.883G>A (p.Val295Ile) c.1137G>A c.379G>A (p.Val127Ile) c.760G>A (p.Val254Ile) c.502G>A (p.Val168Ile) n.398G>A c.483G>A n.1033G>A n.1000G>A | gnomAD v4 |
19 | g.11107457G>C | CA404080921 | LDLR | c.1141G>C (p.Val381Leu) c.883G>C (p.Val295Leu) c.1137G>C c.379G>C (p.Val127Leu) c.760G>C (p.Val254Leu) c.502G>C (p.Val168Leu) n.398G>C c.483G>C n.1033G>C n.1000G>C | |
19 | g.11107457G>T | CA404080923 | LDLR | c.1141G>T (p.Val381Phe) c.883G>T (p.Val295Phe) c.1137G>T c.379G>T (p.Val127Phe) c.760G>T (p.Val254Phe) c.502G>T (p.Val168Phe) n.398G>T c.483G>T n.1033G>T n.1000G>T | |
19 | g.11107457_11107458delinsGT | CA2322768609 | LDLR | c.1141_1142delinsGT (p.Val381=) c.883_884delinsGT (p.Val295=) c.1137_1138delinsGT c.379_380delinsGT (p.Val127=) c.760_761delinsGT (p.Val254=) c.502_503delinsGT (p.Val168=) n.398_399delinsGT c.483_484delinsGT n.1033_1034delinsGT n.1000_1001delinsGT | |
19 | g.11107458del | CA10585173 | LDLR | c.1142del (p.Val381AlafsTer?) c.884del (p.Val295AlafsTer?) c.1138del c.380del (p.Val127AlafsTer?) c.761del (p.Val254AlafsTer?) c.503del (p.Val168AlafsTer?) n.399del c.484del n.1034del n.1001del | ClinVar dbSNP |
19 | g.11107458T>A | CA404080925 | LDLR | c.1142T>A (p.Val381Asp) c.884T>A (p.Val295Asp) c.1138T>A c.380T>A (p.Val127Asp) c.761T>A (p.Val254Asp) c.503T>A (p.Val168Asp) n.399T>A c.484T>A n.1034T>A n.1001T>A | |
19 | g.11107458T>C | CA404080926 | LDLR | c.1142T>C (p.Val381Ala) c.884T>C (p.Val295Ala) c.1138T>C c.380T>C (p.Val127Ala) c.761T>C (p.Val254Ala) c.503T>C (p.Val168Ala) n.399T>C c.484T>C n.1034T>C n.1001T>C | |
19 | g.11107458T>G | CA404080927 | LDLR | c.1142T>G (p.Val381Gly) c.884T>G (p.Val295Gly) c.1138T>G c.380T>G (p.Val127Gly) c.761T>G (p.Val254Gly) c.503T>G (p.Val168Gly) n.399T>G c.484T>G n.1034T>G n.1001T>G | ClinVar |
19 | g.11107459C>A | CA505485088 | LDLR | c.1143C>A (p.Val381=) c.885C>A (p.Val295=) c.1139C>A c.381C>A (p.Val127=) c.762C>A (p.Val254=) c.504C>A (p.Val168=) n.400C>A c.485C>A n.1035C>A n.1002C>A | |
19 | g.11107459C= | CA2322768610 | LDLR | c.1143C= (p.Val381=) c.885C= (p.Val295=) c.1139C= c.381C= (p.Val127=) c.762C= (p.Val254=) c.504C= (p.Val168=) n.400C= c.485C= n.1035C= n.1002C= | |
19 | g.11107459C>G | CA505485087 | LDLR | c.1143C>G (p.Val381=) c.885C>G (p.Val295=) c.1139C>G c.381C>G (p.Val127=) c.762C>G (p.Val254=) c.504C>G (p.Val168=) n.400C>G c.485C>G n.1035C>G n.1002C>G | |
19 | g.11107459C>T | CA505485086 | LDLR | c.1143C>T (p.Val381=) c.885C>T (p.Val295=) c.1139C>T c.381C>T (p.Val127=) c.762C>T (p.Val254=) c.504C>T (p.Val168=) n.400C>T c.485C>T n.1035C>T n.1002C>T | ClinVar dbSNP |
19 | g.11107460T>A | CA404080933 | LDLR | c.1144T>A (p.Cys382Ser) c.886T>A (p.Cys296Ser) c.1140T>A c.382T>A (p.Cys128Ser) c.763T>A (p.Cys255Ser) c.505T>A (p.Cys169Ser) n.401T>A c.486T>A n.1036T>A n.1003T>A | |
19 | g.11107460T>C | CA404080930 | LDLR | c.1144T>C (p.Cys382Arg) c.886T>C (p.Cys296Arg) c.1140T>C c.382T>C (p.Cys128Arg) c.763T>C (p.Cys255Arg) c.505T>C (p.Cys169Arg) n.401T>C c.486T>C n.1036T>C n.1003T>C | ClinVar dbSNP |
19 | g.11107460T>G | CA404080929 | LDLR | c.1144T>G (p.Cys382Gly) c.886T>G (p.Cys296Gly) c.1140T>G c.382T>G (p.Cys128Gly) c.763T>G (p.Cys255Gly) c.505T>G (p.Cys169Gly) n.401T>G c.486T>G n.1036T>G n.1003T>G | ClinVar |
19 | g.11107460T= | CA2322768611 | LDLR | c.1144T= (p.Cys382=) c.886T= (p.Cys296=) c.1140T= c.382T= (p.Cys128=) c.763T= (p.Cys255=) c.505T= (p.Cys169=) n.401T= c.486T= n.1036T= n.1003T= | |
19 | g.11107460_11107461insA | CA030025 | LDLR | c.1144_1145insA (p.Cys382Ter) c.886_887insA (p.Cys296Ter) c.1140_1141insA c.382_383insA (p.Cys128Ter) c.763_764insA (p.Cys255Ter) c.505_506insA (p.Cys169Ter) n.401_402insA c.486_487insA n.1036_1037insA n.1003_1004insA | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107461G>A | CA10585174 | LDLR | c.1145G>A (p.Cys382Tyr) c.887G>A (p.Cys296Tyr) c.1141G>A c.383G>A (p.Cys128Tyr) c.764G>A (p.Cys255Tyr) c.506G>A (p.Cys169Tyr) n.402G>A c.487G>A n.1037G>A n.1004G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107461G>C | CA10585175 | LDLR | c.1145G>C (p.Cys382Ser) c.887G>C (p.Cys296Ser) c.1141G>C c.383G>C (p.Cys128Ser) c.764G>C (p.Cys255Ser) c.506G>C (p.Cys169Ser) n.402G>C c.487G>C n.1037G>C n.1004G>C | ClinVar dbSNP |
19 | g.11107461G= | CA2322768612 | LDLR | c.1145G= (p.Cys382=) c.887G= (p.Cys296=) c.1141G= c.383G= (p.Cys128=) c.764G= (p.Cys255=) c.506G= (p.Cys169=) n.402G= c.487G= n.1037G= n.1004G= | |
19 | g.11107461G>T | CA404080938 | LDLR | c.1145G>T (p.Cys382Phe) c.887G>T (p.Cys296Phe) c.1141G>T c.383G>T (p.Cys128Phe) c.764G>T (p.Cys255Phe) c.506G>T (p.Cys169Phe) n.402G>T c.487G>T n.1037G>T n.1004G>T | ClinVar dbSNP |
19 | g.11107461_11107462delinsAA | CA2573320456 | LDLR | c.1145_1146delinsAA (p.Cys382Ter) c.887_888delinsAA (p.Cys296Ter) c.1141_1142delinsAA c.383_384delinsAA (p.Cys128Ter) c.764_765delinsAA (p.Cys255Ter) c.506_507delinsAA (p.Cys169Ter) n.402_403delinsAA c.487_488delinsAA n.1037_1038delinsAA n.1004_1005delinsAA | |
19 | g.11107461_11107463delinsAGC | CA10585176 | LDLR | c.1145_1147delinsAGC (p.Cys382Ter) c.887_889delinsAGC (p.Cys296Ter) c.1141_1143delinsAGC c.383_385delinsAGC (p.Cys128Ter) c.764_766delinsAGC (p.Cys255Ter) c.506_508delinsAGC (p.Cys169Ter) n.402_404delinsAGC c.487_489delinsAGC n.1037_1039delinsAGC n.1004_1006delinsAGC | ClinVar dbSNP |
19 | g.11107461_11107463delinsGCA | CA2322768613 | LDLR | c.1145_1147delinsGCA (p.Cys382=) c.887_889delinsGCA (p.Cys296=) c.1141_1143delinsGCA c.383_385delinsGCA (p.Cys128=) c.764_766delinsGCA (p.Cys255=) c.506_508delinsGCA (p.Cys169=) n.402_404delinsGCA c.487_489delinsGCA n.1037_1039delinsGCA n.1004_1006delinsGCA | |
19 | g.11107462C>A | CA10585177 | LDLR | c.1146C>A (p.Cys382Ter) c.888C>A (p.Cys296Ter) c.1142C>A c.384C>A (p.Cys128Ter) c.765C>A (p.Cys255Ter) c.507C>A (p.Cys169Ter) n.403C>A c.488C>A n.1038C>A n.1005C>A | ClinVar dbSNP |
19 | g.11107462C= | CA2322768614 | LDLR | c.1146C= (p.Cys382=) c.888C= (p.Cys296=) c.1142C= c.384C= (p.Cys128=) c.765C= (p.Cys255=) c.507C= (p.Cys169=) n.403C= c.488C= n.1038C= n.1005C= | |
19 | g.11107462C>G | CA404080941 | LDLR | c.1146C>G (p.Cys382Trp) c.888C>G (p.Cys296Trp) c.1142C>G c.384C>G (p.Cys128Trp) c.765C>G (p.Cys255Trp) c.507C>G (p.Cys169Trp) n.403C>G c.488C>G n.1038C>G n.1005C>G | ClinVar |
19 | g.11107462C>T | CA505485089 | LDLR | c.1146C>T (p.Cys382=) c.888C>T (p.Cys296=) c.1142C>T c.384C>T (p.Cys128=) c.765C>T (p.Cys255=) c.507C>T (p.Cys169=) n.403C>T c.488C>T n.1038C>T n.1005C>T | |
19 | g.11107462_11107463delinsCA | CA2322768615 | LDLR | c.1146_1147delinsCA (p.Cys382=) c.888_889delinsCA (p.Cys296=) c.1142_1143delinsCA c.384_385delinsCA (p.Cys128=) c.765_766delinsCA (p.Cys255=) c.507_508delinsCA (p.Cys169=) n.403_404delinsCA c.488_489delinsCA n.1038_1039delinsCA n.1005_1006delinsCA | |
19 | g.11107463A= | CA2322768616 | LDLR | c.1147A= (p.Asn383=) c.889A= (p.Asn297=) c.1143A= c.385A= (p.Asn129=) c.766A= (p.Asn256=) c.508A= (p.Asn170=) n.404A= c.489A= n.1039A= n.1006A= | |
19 | g.11107463A>C | CA10585178 | LDLR | c.1147A>C (p.Asn383His) c.889A>C (p.Asn297His) c.1143A>C c.385A>C (p.Asn129His) c.766A>C (p.Asn256His) c.508A>C (p.Asn170His) n.404A>C c.489A>C n.1039A>C n.1006A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107463A>G | CA404080946 | LDLR | c.1147A>G (p.Asn383Asp) c.889A>G (p.Asn297Asp) c.1143A>G c.385A>G (p.Asn129Asp) c.766A>G (p.Asn256Asp) c.508A>G (p.Asn170Asp) n.404A>G c.489A>G n.1039A>G n.1006A>G | gnomAD v4 |
19 | g.11107463A>T | CA404080947 | LDLR | c.1147A>T (p.Asn383Tyr) c.889A>T (p.Asn297Tyr) c.1143A>T c.385A>T (p.Asn129Tyr) c.766A>T (p.Asn256Tyr) c.508A>T (p.Asn170Tyr) n.404A>T c.489A>T n.1039A>T n.1006A>T | |
19 | g.11107464del | CA030039 | LDLR | c.1148del (p.Asn383ThrfsTer?) c.890del (p.Asn297ThrfsTer?) c.1144del c.386del (p.Asn129ThrfsTer?) c.767del (p.Asn256ThrfsTer?) c.509del (p.Asn170ThrfsTer?) n.405del c.490del n.1040del n.1007del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107464A= | CA2322768617 | LDLR | c.1148A= (p.Asn383=) c.890A= (p.Asn297=) c.1144A= c.386A= (p.Asn129=) c.767A= (p.Asn256=) c.509A= (p.Asn170=) n.405A= c.490A= n.1040A= n.1007A= | |
19 | g.11107464A>C | CA404080954 | LDLR | c.1148A>C (p.Asn383Thr) c.890A>C (p.Asn297Thr) c.1144A>C c.386A>C (p.Asn129Thr) c.767A>C (p.Asn256Thr) c.509A>C (p.Asn170Thr) n.405A>C c.490A>C n.1040A>C n.1007A>C | ClinVar dbSNP |
19 | g.11107464A>G | CA404080953 | LDLR | c.1148A>G (p.Asn383Ser) c.890A>G (p.Asn297Ser) c.1144A>G c.386A>G (p.Asn129Ser) c.767A>G (p.Asn256Ser) c.509A>G (p.Asn170Ser) n.405A>G c.490A>G n.1040A>G n.1007A>G | ClinVar dbSNP COSMIC |
19 | g.11107464A>T | CA404080956 | LDLR | c.1148A>T (p.Asn383Ile) c.890A>T (p.Asn297Ile) c.1144A>T c.386A>T (p.Asn129Ile) c.767A>T (p.Asn256Ile) c.509A>T (p.Asn170Ile) n.405A>T c.490A>T n.1040A>T n.1007A>T | |
19 | g.11107464_11107466delinsCC | CA2573320457 | LDLR | c.1148_1150delinsCC (p.Asn383ThrfsTer?) c.890_892delinsCC (p.Asn297ThrfsTer?) c.1144_1146delinsCC c.386_388delinsCC (p.Asn129ThrfsTer?) c.767_769delinsCC (p.Asn256ThrfsTer?) c.509_511delinsCC (p.Asn170ThrfsTer?) n.405_407delinsCC c.490_492delinsCC n.1040_1042delinsCC n.1007_1009delinsCC | |
19 | g.11107465del | CA2695228123 | LDLR | c.1149del (p.Asn383LysfsTer?) c.891del (p.Asn297LysfsTer?) c.1145del c.387del (p.Asn129LysfsTer?) c.768del (p.Asn256LysfsTer?) c.510del (p.Asn170LysfsTer?) n.406del c.491del n.1041del n.1008del | |
19 | g.11107465C>A | CA404080958 | LDLR | c.1149C>A (p.Asn383Lys) c.891C>A (p.Asn297Lys) c.1145C>A c.387C>A (p.Asn129Lys) c.768C>A (p.Asn256Lys) c.510C>A (p.Asn170Lys) n.406C>A c.491C>A n.1041C>A n.1008C>A | |
19 | g.11107465C= | CA2322768618 | LDLR | c.1149C= (p.Asn383=) c.891C= (p.Asn297=) c.1145C= c.387C= (p.Asn129=) c.768C= (p.Asn256=) c.510C= (p.Asn170=) n.406C= c.491C= n.1041C= n.1008C= | |
19 | g.11107465C>G | CA404080960 | LDLR | c.1149C>G (p.Asn383Lys) c.891C>G (p.Asn297Lys) c.1145C>G c.387C>G (p.Asn129Lys) c.768C>G (p.Asn256Lys) c.510C>G (p.Asn170Lys) n.406C>G c.491C>G n.1041C>G n.1008C>G | |
19 | g.11107465C>T | CA505485090 | LDLR | c.1149C>T (p.Asn383=) c.891C>T (p.Asn297=) c.1145C>T c.387C>T (p.Asn129=) c.768C>T (p.Asn256=) c.510C>T (p.Asn170=) n.406C>T c.491C>T n.1041C>T n.1008C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107466del | CA2017997786 | LDLR | c.1150del (p.Met384TrpfsTer?) c.892del (p.Met298TrpfsTer?) c.1146del c.388del (p.Met130TrpfsTer?) c.769del (p.Met257TrpfsTer?) c.511del (p.Met171TrpfsTer?) n.407del c.492del n.1042del n.1009del | |
19 | g.11107466A= | CA2322768619 | LDLR | c.1150A= (p.Met384=) c.892A= (p.Met298=) c.1146A= c.388A= (p.Met130=) c.769A= (p.Met257=) c.511A= (p.Met171=) n.407A= c.492A= n.1042A= n.1009A= | |
19 | g.11107466A>C | CA404080963 | LDLR | c.1150A>C (p.Met384Leu) c.892A>C (p.Met298Leu) c.1146A>C c.388A>C (p.Met130Leu) c.769A>C (p.Met257Leu) c.511A>C (p.Met171Leu) n.407A>C c.492A>C n.1042A>C n.1009A>C | |
19 | g.11107466A>G | CA023786 | LDLR | c.1150A>G (p.Met384Val) c.892A>G (p.Met298Val) c.1146A>G c.388A>G (p.Met130Val) c.769A>G (p.Met257Val) c.511A>G (p.Met171Val) n.407A>G c.492A>G n.1042A>G n.1009A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107466A>T | CA404080965 | LDLR | c.1150A>T (p.Met384Leu) c.892A>T (p.Met298Leu) c.1146A>T c.388A>T (p.Met130Leu) c.769A>T (p.Met257Leu) c.511A>T (p.Met171Leu) n.407A>T c.492A>T n.1042A>T n.1009A>T | |
19 | g.11107467T>A | CA404080968 | LDLR | c.1151T>A (p.Met384Lys) c.893T>A (p.Met298Lys) c.1147T>A c.389T>A (p.Met130Lys) c.770T>A (p.Met257Lys) c.512T>A (p.Met171Lys) n.408T>A c.493T>A n.1043T>A n.1010T>A | |
19 | g.11107467T>C | CA404080969 | LDLR | c.1151T>C (p.Met384Thr) c.893T>C (p.Met298Thr) c.1147T>C c.389T>C (p.Met130Thr) c.770T>C (p.Met257Thr) c.512T>C (p.Met171Thr) n.408T>C c.493T>C n.1043T>C n.1010T>C | ClinVar gnomAD v4 |
19 | g.11107467T>G | CA404080971 | LDLR | c.1151T>G (p.Met384Arg) c.893T>G (p.Met298Arg) c.1147T>G c.389T>G (p.Met130Arg) c.770T>G (p.Met257Arg) c.512T>G (p.Met171Arg) n.408T>G c.493T>G n.1043T>G n.1010T>G | |
19 | g.11107467dup | CA2580096310 | LDLR | c.1151dup (p.Met384IlefsTer3) c.893dup (p.Met298IlefsTer3) c.1147dup c.389dup (p.Met130IlefsTer3) c.770dup (p.Met257IlefsTer3) c.512dup (p.Met171IlefsTer3) n.408dup c.493dup n.1043dup n.1010dup | ClinVar |
19 | g.11107468G>A | CA404080974 | LDLR | c.1152G>A (p.Met384Ile) c.894G>A (p.Met298Ile) c.1148G>A c.390G>A (p.Met130Ile) c.771G>A (p.Met257Ile) c.513G>A (p.Met171Ile) n.409G>A c.494G>A n.1044G>A n.1011G>A | gnomAD v4 |
19 | g.11107468G>C | CA404080976 | LDLR | c.1152G>C (p.Met384Ile) c.894G>C (p.Met298Ile) c.1148G>C c.390G>C (p.Met130Ile) c.771G>C (p.Met257Ile) c.513G>C (p.Met171Ile) n.409G>C c.494G>C n.1044G>C n.1011G>C | |
19 | g.11107468G>T | CA404080978 | LDLR | c.1152G>T (p.Met384Ile) c.894G>T (p.Met298Ile) c.1148G>T c.390G>T (p.Met130Ile) c.771G>T (p.Met257Ile) c.513G>T (p.Met171Ile) n.409G>T c.494G>T n.1044G>T n.1011G>T | gnomAD v4 |
19 | g.11107468_11107469del | CA2497030139 | LDLR | c.1152_1153del (p.Met384IlefsTer2) c.894_895del (p.Met298IlefsTer2) c.1148_1149del c.390_391del (p.Met130IlefsTer2) c.771_772del (p.Met257IlefsTer2) c.513_514del (p.Met171IlefsTer2) n.409_410del c.494_495del n.1044_1045del n.1011_1012del | |
19 | g.11107469G>A | CA10585179 | LDLR | c.1153G>A (p.Ala385Thr) c.895G>A (p.Ala299Thr) c.1149G>A c.391G>A (p.Ala131Thr) c.772G>A (p.Ala258Thr) c.514G>A (p.Ala172Thr) n.410G>A c.495G>A n.1045G>A n.1012G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11107469G>C | CA404080981 | LDLR | c.1153G>C (p.Ala385Pro) c.895G>C (p.Ala299Pro) c.1149G>C c.391G>C (p.Ala131Pro) c.772G>C (p.Ala258Pro) c.514G>C (p.Ala172Pro) n.410G>C c.495G>C n.1045G>C n.1012G>C | |
19 | g.11107469G= | CA2322768620 | LDLR | c.1153G= (p.Ala385=) c.895G= (p.Ala299=) c.1149G= c.391G= (p.Ala131=) c.772G= (p.Ala258=) c.514G= (p.Ala172=) n.410G= c.495G= n.1045G= n.1012G= | |
19 | g.11107469G>T | CA10585180 | LDLR | c.1153G>T (p.Ala385Ser) c.895G>T (p.Ala299Ser) c.1149G>T c.391G>T (p.Ala131Ser) c.772G>T (p.Ala258Ser) c.514G>T (p.Ala172Ser) n.410G>T c.495G>T n.1045G>T n.1012G>T | ClinVar dbSNP |
19 | g.11107469_11107470delinsGC | CA2322768621 | LDLR | c.1153_1154delinsGC (p.Ala385=) c.895_896delinsGC (p.Ala299=) c.1149_1150delinsGC c.391_392delinsGC (p.Ala131=) c.772_773delinsGC (p.Ala258=) c.514_515delinsGC (p.Ala172=) n.410_411delinsGC c.495_496delinsGC n.1045_1046delinsGC n.1012_1013delinsGC | |
19 | g.11107470del | CA10585181 | LDLR | c.1154del (p.Ala385ValfsTer?) c.896del (p.Ala299ValfsTer?) c.1150del c.392del (p.Ala131ValfsTer?) c.773del (p.Ala258ValfsTer?) c.515del (p.Ala172ValfsTer?) n.411del c.496del n.1046del n.1013del | ClinVar dbSNP |
19 | g.11107470C>A | CA404080986 | LDLR | c.1154C>A (p.Ala385Asp) c.896C>A (p.Ala299Asp) c.1150C>A c.392C>A (p.Ala131Asp) c.773C>A (p.Ala258Asp) c.515C>A (p.Ala172Asp) n.411C>A c.496C>A n.1046C>A n.1013C>A | |
19 | g.11107470C>G | CA404080987 | LDLR | c.1154C>G (p.Ala385Gly) c.896C>G (p.Ala299Gly) c.1150C>G c.392C>G (p.Ala131Gly) c.773C>G (p.Ala258Gly) c.515C>G (p.Ala172Gly) n.411C>G c.496C>G n.1046C>G n.1013C>G | |
19 | g.11107470C>T | CA404080990 | LDLR | c.1154C>T (p.Ala385Val) c.896C>T (p.Ala299Val) c.1150C>T c.392C>T (p.Ala131Val) c.773C>T (p.Ala258Val) c.515C>T (p.Ala172Val) n.411C>T c.496C>T n.1046C>T n.1013C>T | |
19 | g.11107471T>A | CA505485091 | LDLR | c.1155T>A (p.Ala385=) c.897T>A (p.Ala299=) c.1151T>A c.393T>A (p.Ala131=) c.774T>A (p.Ala258=) c.516T>A (p.Ala172=) n.412T>A c.497T>A n.1047T>A n.1014T>A | |
19 | g.11107471T>C | CA505485092 | LDLR | c.1155T>C (p.Ala385=) c.897T>C (p.Ala299=) c.1151T>C c.393T>C (p.Ala131=) c.774T>C (p.Ala258=) c.516T>C (p.Ala172=) n.412T>C c.497T>C n.1047T>C n.1014T>C | |
19 | g.11107471T>G | CA505485093 | LDLR | c.1155T>G (p.Ala385=) c.897T>G (p.Ala299=) c.1151T>G c.393T>G (p.Ala131=) c.774T>G (p.Ala258=) c.516T>G (p.Ala172=) n.412T>G c.497T>G n.1047T>G n.1014T>G | ClinVar dbSNP |
19 | g.11107472A= | CA2322768622 | LDLR | c.1156A= (p.Arg386=) c.898A= (p.Arg300=) c.1152A= c.394A= (p.Arg132=) c.775A= (p.Arg259=) c.517A= (p.Arg173=) n.413A= c.498A= n.1048A= n.1015A= | |
19 | g.11107472A>C | CA505485094 | LDLR | c.1156A>C (p.Arg386=) c.898A>C (p.Arg300=) c.1152A>C c.394A>C (p.Arg132=) c.775A>C (p.Arg259=) c.517A>C (p.Arg173=) n.413A>C c.498A>C n.1048A>C n.1015A>C | |
19 | g.11107472A>G | CA030068 | LDLR | c.1156A>G (p.Arg386Gly) c.898A>G (p.Arg300Gly) c.1152A>G c.394A>G (p.Arg132Gly) c.775A>G (p.Arg259Gly) c.517A>G (p.Arg173Gly) n.413A>G c.498A>G n.1048A>G n.1015A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107472A>T | CA10585182 | LDLR | c.1156A>T (p.Arg386Ter) c.898A>T (p.Arg300Ter) c.1152A>T c.394A>T (p.Arg132Ter) c.775A>T (p.Arg259Ter) c.517A>T (p.Arg173Ter) n.413A>T c.498A>T n.1048A>T n.1015A>T | ClinVar dbSNP |
19 | g.11107472_11107483delinsAGAGACTGCCGG | CA2322768623 | LDLR | c.1156_1167delinsAGAGACTGCCGG (p.Arg386=) c.898_909delinsAGAGACTGCCGG (p.Arg300=) c.1152_1163delinsAGAGACTGCCGG c.394_405delinsAGAGACTGCCGG (p.Arg132=) c.775_786delinsAGAGACTGCCGG (p.Arg259=) c.517_528delinsAGAGACTGCCGG (p.Arg173=) n.413_424delinsAGAGACTGCCGG c.498_509delinsAGAGACTGCCGG n.1048_1059delinsAGAGACTGCCGG n.1015_1026delinsAGAGACTGCCGG | |
19 | g.11107473G>A | CA404080996 | LDLR | c.1157G>A (p.Arg386Lys) c.899G>A (p.Arg300Lys) c.1153G>A c.395G>A (p.Arg132Lys) c.776G>A (p.Arg259Lys) c.518G>A (p.Arg173Lys) n.414G>A c.499G>A n.1049G>A n.1016G>A | ClinVar dbSNP |
19 | g.11107473G>C | CA404080998 | LDLR | c.1157G>C (p.Arg386Thr) c.899G>C (p.Arg300Thr) c.1153G>C c.395G>C (p.Arg132Thr) c.776G>C (p.Arg259Thr) c.518G>C (p.Arg173Thr) n.414G>C c.499G>C n.1049G>C n.1016G>C | ClinVar gnomAD v4 COSMIC |
19 | g.11107473G= | CA2322768624 | LDLR | c.1157G= (p.Arg386=) c.899G= (p.Arg300=) c.1153G= c.395G= (p.Arg132=) c.776G= (p.Arg259=) c.518G= (p.Arg173=) n.414G= c.499G= n.1049G= n.1016G= | |
19 | g.11107473G>T | CA404080999 | LDLR | c.1157G>T (p.Arg386Ile) c.899G>T (p.Arg300Ile) c.1153G>T c.395G>T (p.Arg132Ile) c.776G>T (p.Arg259Ile) c.518G>T (p.Arg173Ile) n.414G>T c.499G>T n.1049G>T n.1016G>T | |
19 | g.11107475_11107485del | CA1139666262 | LDLR | c.1159_1169del (p.Asp387LeufsTer4) c.901_911del (p.Asp301LeufsTer4) c.1155_1165del c.397_407del (p.Asp133LeufsTer4) c.778_788del (p.Asp260LeufsTer4) c.520_530del (p.Asp174LeufsTer4) n.416_426del c.501_511del n.1051_1061del n.1018_1028del | ClinVar dbSNP |
19 | g.11107474A>C | CA404081001 | LDLR | c.1158A>C (p.Arg386Ser) c.900A>C (p.Arg300Ser) c.1154A>C c.396A>C (p.Arg132Ser) c.777A>C (p.Arg259Ser) c.519A>C (p.Arg173Ser) n.415A>C c.500A>C n.1050A>C n.1017A>C | |
19 | g.11107474A>G | CA505485095 | LDLR | c.1158A>G (p.Arg386=) c.900A>G (p.Arg300=) c.1154A>G c.396A>G (p.Arg132=) c.777A>G (p.Arg259=) c.519A>G (p.Arg173=) n.415A>G c.500A>G n.1050A>G n.1017A>G | ClinVar gnomAD v4 |
19 | g.11107474A>T | CA404081002 | LDLR | c.1158A>T (p.Arg386Ser) c.900A>T (p.Arg300Ser) c.1154A>T c.396A>T (p.Arg132Ser) c.777A>T (p.Arg259Ser) c.519A>T (p.Arg173Ser) n.415A>T c.500A>T n.1050A>T n.1017A>T | |
19 | g.11107475G>A | CA404081006 | LDLR | c.1159G>A (p.Asp387Asn) c.901G>A (p.Asp301Asn) c.1155G>A c.397G>A (p.Asp133Asn) c.778G>A (p.Asp260Asn) c.520G>A (p.Asp174Asn) n.416G>A c.501G>A n.1051G>A n.1018G>A | |
19 | g.11107475G>C | CA404081007 | LDLR | c.1159G>C (p.Asp387His) c.901G>C (p.Asp301His) c.1155G>C c.397G>C (p.Asp133His) c.778G>C (p.Asp260His) c.520G>C (p.Asp174His) n.416G>C c.501G>C n.1051G>C n.1018G>C | |
19 | g.11107475G= | CA2322768625 | LDLR | c.1159G= (p.Asp387=) c.901G= (p.Asp301=) c.1155G= c.397G= (p.Asp133=) c.778G= (p.Asp260=) c.520G= (p.Asp174=) n.416G= c.501G= n.1051G= n.1018G= | |
19 | g.11107475G>T | CA10585183 | LDLR | c.1159G>T (p.Asp387Tyr) c.901G>T (p.Asp301Tyr) c.1155G>T c.397G>T (p.Asp133Tyr) c.778G>T (p.Asp260Tyr) c.520G>T (p.Asp174Tyr) n.416G>T c.501G>T n.1051G>T n.1018G>T | ClinVar dbSNP |
19 | g.11107476A= | CA2322768626 | LDLR | c.1160A= (p.Asp387=) c.902A= (p.Asp301=) c.1156A= c.398A= (p.Asp133=) c.779A= (p.Asp260=) c.521A= (p.Asp174=) n.417A= c.502A= n.1052A= n.1019A= | |
19 | g.11107476A>C | CA10585184 | LDLR | c.1160A>C (p.Asp387Ala) c.902A>C (p.Asp301Ala) c.1156A>C c.398A>C (p.Asp133Ala) c.779A>C (p.Asp260Ala) c.521A>C (p.Asp174Ala) n.417A>C c.502A>C n.1052A>C n.1019A>C | ClinVar dbSNP |
19 | g.11107476A>G | CA10585185 | LDLR | c.1160A>G (p.Asp387Gly) c.902A>G (p.Asp301Gly) c.1156A>G c.398A>G (p.Asp133Gly) c.779A>G (p.Asp260Gly) c.521A>G (p.Asp174Gly) n.417A>G c.502A>G n.1052A>G n.1019A>G | ClinVar dbSNP |
19 | g.11107476A>T | CA404081010 | LDLR | c.1160A>T (p.Asp387Val) c.902A>T (p.Asp301Val) c.1156A>T c.398A>T (p.Asp133Val) c.779A>T (p.Asp260Val) c.521A>T (p.Asp174Val) n.417A>T c.502A>T n.1052A>T n.1019A>T | ClinVar |
19 | g.11107477C>A | CA404081013 | LDLR | c.1161C>A (p.Asp387Glu) c.903C>A (p.Asp301Glu) c.1157C>A c.399C>A (p.Asp133Glu) c.780C>A (p.Asp260Glu) c.522C>A (p.Asp174Glu) n.418C>A c.503C>A n.1053C>A n.1020C>A | gnomAD v4 |
19 | g.11107477C= | CA2322768627 | LDLR | c.1161C= (p.Asp387=) c.903C= (p.Asp301=) c.1157C= c.399C= (p.Asp133=) c.780C= (p.Asp260=) c.522C= (p.Asp174=) n.418C= c.503C= n.1053C= n.1020C= | |
19 | g.11107477C>G | CA404081014 | LDLR | c.1161C>G (p.Asp387Glu) c.903C>G (p.Asp301Glu) c.1157C>G c.399C>G (p.Asp133Glu) c.780C>G (p.Asp260Glu) c.522C>G (p.Asp174Glu) n.418C>G c.503C>G n.1053C>G n.1020C>G | |
19 | g.11107477C>T | CA505485096 | LDLR | c.1161C>T (p.Asp387=) c.903C>T (p.Asp301=) c.1157C>T c.399C>T (p.Asp133=) c.780C>T (p.Asp260=) c.522C>T (p.Asp174=) n.418C>T c.503C>T n.1053C>T n.1020C>T | ClinVar dbSNP |
19 | g.11107478T>A | CA404081017 | LDLR | c.1162T>A (p.Cys388Ser) c.904T>A (p.Cys302Ser) c.1158T>A c.400T>A (p.Cys134Ser) c.781T>A (p.Cys261Ser) c.523T>A (p.Cys175Ser) n.419T>A c.504T>A n.1054T>A n.1021T>A | |
19 | g.11107478T>C | CA404081019 | LDLR | c.1162T>C (p.Cys388Arg) c.904T>C (p.Cys302Arg) c.1158T>C c.400T>C (p.Cys134Arg) c.781T>C (p.Cys261Arg) c.523T>C (p.Cys175Arg) n.419T>C c.504T>C n.1054T>C n.1021T>C | ClinVar dbSNP |
19 | g.11107478T>G | CA404081021 | LDLR | c.1162T>G (p.Cys388Gly) c.904T>G (p.Cys302Gly) c.1158T>G c.400T>G (p.Cys134Gly) c.781T>G (p.Cys261Gly) c.523T>G (p.Cys175Gly) n.419T>G c.504T>G n.1054T>G n.1021T>G | ClinVar dbSNP |
19 | g.11107478T= | CA2322768628 | LDLR | c.1162T= (p.Cys388=) c.904T= (p.Cys302=) c.1158T= c.400T= (p.Cys134=) c.781T= (p.Cys261=) c.523T= (p.Cys175=) n.419T= c.504T= n.1054T= n.1021T= | |
19 | g.11107478_11107479delinsTG | CA2322768629 | LDLR | c.1162_1163delinsTG (p.Cys388=) c.904_905delinsTG (p.Cys302=) c.1158_1159delinsTG c.400_401delinsTG (p.Cys134=) c.781_782delinsTG (p.Cys261=) c.523_524delinsTG (p.Cys175=) n.419_420delinsTG c.504_505delinsTG n.1054_1055delinsTG n.1021_1022delinsTG | |
19 | g.11107479del | CA10654847 | LDLR | c.1163del (p.Cys388SerfsTer?) c.905del (p.Cys302SerfsTer?) c.905del (p.Cys302SerfsTer28) c.1159del c.401del (p.Cys134SerfsTer?) c.782del (p.Cys261SerfsTer?) c.524del (p.Cys175SerfsTer?) n.420del c.505del n.1055del n.1022del | ClinVar dbSNP |
19 | g.11107479G>A | CA10585186 | LDLR | c.1163G>A (p.Cys388Tyr) c.905G>A (p.Cys302Tyr) c.1159G>A c.401G>A (p.Cys134Tyr) c.782G>A (p.Cys261Tyr) c.524G>A (p.Cys175Tyr) n.420G>A c.505G>A n.1055G>A n.1022G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107479G>C | CA404081026 | LDLR | c.1163G>C (p.Cys388Ser) c.905G>C (p.Cys302Ser) c.1159G>C c.401G>C (p.Cys134Ser) c.782G>C (p.Cys261Ser) c.524G>C (p.Cys175Ser) n.420G>C c.505G>C n.1055G>C n.1022G>C | |
19 | g.11107479G= | CA2322768630 | LDLR | c.1163G= (p.Cys388=) c.905G= (p.Cys302=) c.1159G= c.401G= (p.Cys134=) c.782G= (p.Cys261=) c.524G= (p.Cys175=) n.420G= c.505G= n.1055G= n.1022G= | |
19 | g.11107479G>T | CA404081028 | LDLR | c.1163G>T (p.Cys388Phe) c.905G>T (p.Cys302Phe) c.1159G>T c.401G>T (p.Cys134Phe) c.782G>T (p.Cys261Phe) c.524G>T (p.Cys175Phe) n.420G>T c.505G>T n.1055G>T n.1022G>T | ClinVar dbSNP |
19 | g.11107480C>A | CA404081032 | LDLR | c.1164C>A (p.Cys388Ter) c.906C>A (p.Cys302Ter) c.1160C>A c.402C>A (p.Cys134Ter) c.783C>A (p.Cys261Ter) c.525C>A (p.Cys175Ter) n.421C>A c.506C>A n.1056C>A n.1023C>A | ClinVar |
19 | g.11107480C= | CA2322768631 | LDLR | c.1164C= (p.Cys388=) c.906C= (p.Cys302=) c.1160C= c.402C= (p.Cys134=) c.783C= (p.Cys261=) c.525C= (p.Cys175=) n.421C= c.506C= n.1056C= n.1023C= | |
19 | g.11107480C>G | CA10585187 | LDLR | c.1164C>G (p.Cys388Trp) c.906C>G (p.Cys302Trp) c.1160C>G c.402C>G (p.Cys134Trp) c.783C>G (p.Cys261Trp) c.525C>G (p.Cys175Trp) n.421C>G c.506C>G n.1056C>G n.1023C>G | ClinVar dbSNP |
19 | g.11107480C>T | CA505485097 | LDLR | c.1164C>T (p.Cys388=) c.906C>T (p.Cys302=) c.1160C>T c.402C>T (p.Cys134=) c.783C>T (p.Cys261=) c.525C>T (p.Cys175=) n.421C>T c.506C>T n.1056C>T n.1023C>T | |
19 | g.11107481dup | CA2840306313 | LDLR | c.1165dup (p.Arg389ProfsTer6) c.907dup (p.Arg303ProfsTer6) c.1161dup c.403dup (p.Arg135ProfsTer6) c.784dup (p.Arg262ProfsTer6) c.526dup (p.Arg176ProfsTer6) n.422dup c.507dup n.1057dup n.1024dup | |
19 | g.11107481del | CA2560332380 | LDLR | c.1165del (p.Arg389GlyfsTer?) c.907del (p.Arg303GlyfsTer?) c.907del (p.Arg303GlyfsTer27) c.1161del c.403del (p.Arg135GlyfsTer?) c.784del (p.Arg262GlyfsTer?) c.526del (p.Arg176GlyfsTer?) n.422del c.507del n.1057del n.1024del | |
19 | g.11107482_11107500dup | CA10576289 | LDLR | c.1166_1184dup (p.Ile396GlyfsTer5) c.908_926dup (p.Ile310GlyfsTer5) c.1162_1180dup c.404_422dup (p.Ile142GlyfsTer5) c.785_803dup (p.Ile269GlyfsTer5) c.527_545dup (p.Ile183GlyfsTer5) n.423_441dup c.508_526dup n.1058_1076dup n.1025_1043dup | ClinVar dbSNP gnomAD v4 |
19 | g.11107481C>A | CA505485098 | LDLR | c.1165C>A (p.Arg389=) c.907C>A (p.Arg303=) c.1161C>A c.403C>A (p.Arg135=) c.784C>A (p.Arg262=) c.526C>A (p.Arg176=) n.422C>A c.507C>A n.1057C>A n.1024C>A | COSMIC |
19 | g.11107481C= | CA2322768632 | LDLR | c.1165C= (p.Arg389=) c.907C= (p.Arg303=) c.1161C= c.403C= (p.Arg135=) c.784C= (p.Arg262=) c.526C= (p.Arg176=) n.422C= c.507C= n.1057C= n.1024C= | |
19 | g.11107481C>G | CA404081035 | LDLR | c.1165C>G (p.Arg389Gly) c.907C>G (p.Arg303Gly) c.1161C>G c.403C>G (p.Arg135Gly) c.784C>G (p.Arg262Gly) c.526C>G (p.Arg176Gly) n.422C>G c.507C>G n.1057C>G n.1024C>G | dbSNP gnomAD v4 |
19 | g.11107481C>T | CA023787 | LDLR | c.1165C>T (p.Arg389Trp) c.907C>T (p.Arg303Trp) c.1161C>T c.403C>T (p.Arg135Trp) c.784C>T (p.Arg262Trp) c.526C>T (p.Arg176Trp) n.422C>T c.507C>T n.1057C>T n.1024C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107481_11107482delinsCG | CA2322768633 | LDLR | c.1165_1166delinsCG (p.Arg389=) c.907_908delinsCG (p.Arg303=) c.1161_1162delinsCG c.403_404delinsCG (p.Arg135=) c.784_785delinsCG (p.Arg262=) c.526_527delinsCG (p.Arg176=) n.422_423delinsCG c.507_508delinsCG n.1057_1058delinsCG n.1024_1025delinsCG | |
19 | g.11107482G>A | CA023789 | LDLR | c.1166G>A (p.Arg389Gln) c.908G>A (p.Arg303Gln) c.1162G>A c.404G>A (p.Arg135Gln) c.785G>A (p.Arg262Gln) c.527G>A (p.Arg176Gln) n.423G>A c.508G>A n.1058G>A n.1025G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11107482G>C | CA404081036 | LDLR | c.1166G>C (p.Arg389Pro) c.908G>C (p.Arg303Pro) c.1162G>C c.404G>C (p.Arg135Pro) c.785G>C (p.Arg262Pro) c.527G>C (p.Arg176Pro) n.423G>C c.508G>C n.1058G>C n.1025G>C | |
19 | g.11107482G= | CA2322768634 | LDLR | c.1166G= (p.Arg389=) c.908G= (p.Arg303=) c.1162G= c.404G= (p.Arg135=) c.785G= (p.Arg262=) c.527G= (p.Arg176=) n.423G= c.508G= n.1058G= n.1025G= | |
19 | g.11107482G>T | CA404081037 | LDLR | c.1166G>T (p.Arg389Leu) c.908G>T (p.Arg303Leu) c.1162G>T c.404G>T (p.Arg135Leu) c.785G>T (p.Arg262Leu) c.527G>T (p.Arg176Leu) n.423G>T c.508G>T n.1058G>T n.1025G>T | |
19 | g.11107484dup | CA2695228125 | LDLR | c.1168dup (p.Asp390GlyfsTer5) c.910dup (p.Asp304GlyfsTer5) c.1164dup c.406dup (p.Asp136GlyfsTer5) c.787dup (p.Asp263GlyfsTer5) c.529dup (p.Asp177GlyfsTer5) n.425dup c.510dup n.1060dup n.1027dup | |
19 | g.11107484del | CA1139666263 | LDLR | c.1168del (p.Asp390ThrfsTer?) c.910del (p.Asp304ThrfsTer?) c.910del (p.Asp304ThrfsTer26) c.1164del c.406del (p.Asp136ThrfsTer?) c.787del (p.Asp263ThrfsTer?) c.529del (p.Asp177ThrfsTer?) n.425del c.510del n.1060del n.1027del | ClinVar dbSNP |
19 | g.11107483G>A | CA505485100 | LDLR | c.1167G>A (p.Arg389=) c.909G>A (p.Arg303=) c.1163G>A c.405G>A (p.Arg135=) c.786G>A (p.Arg262=) c.528G>A (p.Arg176=) n.424G>A c.509G>A n.1059G>A n.1026G>A | |
19 | g.11107483G>C | CA505485101 | LDLR | c.1167G>C (p.Arg389=) c.909G>C (p.Arg303=) c.1163G>C c.405G>C (p.Arg135=) c.786G>C (p.Arg262=) c.528G>C (p.Arg176=) n.424G>C c.509G>C n.1059G>C n.1026G>C | gnomAD v4 |
19 | g.11107483G>T | CA505485099 | LDLR | c.1167G>T (p.Arg389=) c.909G>T (p.Arg303=) c.1163G>T c.405G>T (p.Arg135=) c.786G>T (p.Arg262=) c.528G>T (p.Arg176=) n.424G>T c.509G>T n.1059G>T n.1026G>T | |
19 | g.11107484G>A | CA023792 | LDLR | c.1168G>A (p.Asp390Asn) c.910G>A (p.Asp304Asn) c.1164G>A c.406G>A (p.Asp136Asn) c.787G>A (p.Asp263Asn) c.529G>A (p.Asp177Asn) n.425G>A c.510G>A n.1060G>A n.1027G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107484G>C | CA404081038 | LDLR | c.1168G>C (p.Asp390His) c.910G>C (p.Asp304His) c.1164G>C c.406G>C (p.Asp136His) c.787G>C (p.Asp263His) c.529G>C (p.Asp177His) n.425G>C c.510G>C n.1060G>C n.1027G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11107484G= | CA2322768635 | LDLR | c.1168G= (p.Asp390=) c.910G= (p.Asp304=) c.1164G= c.406G= (p.Asp136=) c.787G= (p.Asp263=) c.529G= (p.Asp177=) n.425G= c.510G= n.1060G= n.1027G= | |
19 | g.11107484G>T | CA10585188 | LDLR | c.1168G>T (p.Asp390Tyr) c.910G>T (p.Asp304Tyr) c.1164G>T c.406G>T (p.Asp136Tyr) c.787G>T (p.Asp263Tyr) c.529G>T (p.Asp177Tyr) n.425G>T c.510G>T n.1060G>T n.1027G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11107485A= | CA2322768636 | LDLR | c.1169A= (p.Asp390=) c.911A= (p.Asp304=) c.1165A= c.407A= (p.Asp136=) c.788A= (p.Asp263=) c.530A= (p.Asp177=) n.426A= c.511A= n.1061A= n.1028A= | |
19 | g.11107485A>C | CA404081039 | LDLR | c.1169A>C (p.Asp390Ala) c.911A>C (p.Asp304Ala) c.1165A>C c.407A>C (p.Asp136Ala) c.788A>C (p.Asp263Ala) c.530A>C (p.Asp177Ala) n.426A>C c.511A>C n.1061A>C n.1028A>C | |
19 | g.11107485A>G | CA404081040 | LDLR | c.1169A>G (p.Asp390Gly) c.911A>G (p.Asp304Gly) c.1165A>G c.407A>G (p.Asp136Gly) c.788A>G (p.Asp263Gly) c.530A>G (p.Asp177Gly) n.426A>G c.511A>G n.1061A>G n.1028A>G | |
19 | g.11107485A>T | CA404081041 | LDLR | c.1169A>T (p.Asp390Val) c.911A>T (p.Asp304Val) c.1165A>T c.407A>T (p.Asp136Val) c.788A>T (p.Asp263Val) c.530A>T (p.Asp177Val) n.426A>T c.511A>T n.1061A>T n.1028A>T | ClinVar dbSNP |
19 | g.11107486del | CA2695228127 | LDLR | c.1170del (p.Trp391GlyfsTer?) c.912del (p.Trp305GlyfsTer?) c.912del (p.Trp305GlyfsTer25) c.1166del c.408del (p.Trp137GlyfsTer?) c.789del (p.Trp264GlyfsTer?) c.531del (p.Trp178GlyfsTer?) n.427del c.512del n.1062del n.1029del | |
19 | g.11107486C>A | CA404081042 | LDLR | c.1170C>A (p.Asp390Glu) c.912C>A (p.Asp304Glu) c.1166C>A c.408C>A (p.Asp136Glu) c.789C>A (p.Asp263Glu) c.531C>A (p.Asp177Glu) n.427C>A c.512C>A n.1062C>A n.1029C>A | |
19 | g.11107486C= | CA2322768637 | LDLR | c.1170C= (p.Asp390=) c.912C= (p.Asp304=) c.1166C= c.408C= (p.Asp136=) c.789C= (p.Asp263=) c.531C= (p.Asp177=) n.427C= c.512C= n.1062C= n.1029C= | |
19 | g.11107486C>G | CA10576290 | LDLR | c.1170C>G (p.Asp390Glu) c.912C>G (p.Asp304Glu) c.1166C>G c.408C>G (p.Asp136Glu) c.789C>G (p.Asp263Glu) c.531C>G (p.Asp177Glu) n.427C>G c.512C>G n.1062C>G n.1029C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11107486C>T | CA505485102 | LDLR | c.1170C>T (p.Asp390=) c.912C>T (p.Asp304=) c.1166C>T c.408C>T (p.Asp136=) c.789C>T (p.Asp263=) c.531C>T (p.Asp177=) n.427C>T c.512C>T n.1062C>T n.1029C>T | ClinVar |
19 | g.11107487T>A | CA404081043 | LDLR | c.1171T>A (p.Trp391Arg) c.913T>A (p.Trp305Arg) c.1167T>A c.409T>A (p.Trp137Arg) c.790T>A (p.Trp264Arg) c.532T>A (p.Trp178Arg) n.428T>A c.513T>A n.1063T>A n.1030T>A | |
19 | g.11107487T>C | CA404081044 | LDLR | c.1171T>C (p.Trp391Arg) c.913T>C (p.Trp305Arg) c.1167T>C c.409T>C (p.Trp137Arg) c.790T>C (p.Trp264Arg) c.532T>C (p.Trp178Arg) n.428T>C c.513T>C n.1063T>C n.1030T>C | |
19 | g.11107487T>G | CA030157 | LDLR | c.1171T>G (p.Trp391Gly) c.913T>G (p.Trp305Gly) c.1167T>G c.409T>G (p.Trp137Gly) c.790T>G (p.Trp264Gly) c.532T>G (p.Trp178Gly) n.428T>G c.513T>G n.1063T>G n.1030T>G | dbSNP ExAC gnomAD v2 |
19 | g.11107487T= | CA2322768638 | LDLR | c.1171T= (p.Trp391=) c.913T= (p.Trp305=) c.1167T= c.409T= (p.Trp137=) c.790T= (p.Trp264=) c.532T= (p.Trp178=) n.428T= c.513T= n.1063T= n.1030T= | |
19 | g.11107488G>A | CA10585189 | LDLR | c.1172G>A (p.Trp391Ter) c.914G>A (p.Trp305Ter) c.1168G>A c.410G>A (p.Trp137Ter) c.791G>A (p.Trp264Ter) c.533G>A (p.Trp178Ter) n.429G>A c.514G>A n.1064G>A n.1031G>A | ClinVar dbSNP |
19 | g.11107488G>C | CA10585190 | LDLR | c.1172G>C (p.Trp391Ser) c.914G>C (p.Trp305Ser) c.1168G>C c.410G>C (p.Trp137Ser) c.791G>C (p.Trp264Ser) c.533G>C (p.Trp178Ser) n.429G>C c.514G>C n.1064G>C n.1031G>C | ClinVar dbSNP |
19 | g.11107488G= | CA2322768639 | LDLR | c.1172G= (p.Trp391=) c.914G= (p.Trp305=) c.1168G= c.410G= (p.Trp137=) c.791G= (p.Trp264=) c.533G= (p.Trp178=) n.429G= c.514G= n.1064G= n.1031G= | |
19 | g.11107488G>T | CA404081045 | LDLR | c.1172G>T (p.Trp391Leu) c.914G>T (p.Trp305Leu) c.1168G>T c.410G>T (p.Trp137Leu) c.791G>T (p.Trp264Leu) c.533G>T (p.Trp178Leu) n.429G>T c.514G>T n.1064G>T n.1031G>T | gnomAD v4 |
19 | g.11107489G>A | CA030183 | LDLR | c.1173G>A (p.Trp391Ter) c.915G>A (p.Trp305Ter) c.1169G>A c.411G>A (p.Trp137Ter) c.792G>A (p.Trp264Ter) c.534G>A (p.Trp178Ter) n.430G>A c.515G>A n.1065G>A n.1032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107489G>C | CA10585191 | LDLR | c.1173G>C (p.Trp391Cys) c.915G>C (p.Trp305Cys) c.1169G>C c.411G>C (p.Trp137Cys) c.792G>C (p.Trp264Cys) c.534G>C (p.Trp178Cys) n.430G>C c.515G>C n.1065G>C n.1032G>C | ClinVar dbSNP |
19 | g.11107489G= | CA2322768640 | LDLR | c.1173G= (p.Trp391=) c.915G= (p.Trp305=) c.1169G= c.411G= (p.Trp137=) c.792G= (p.Trp264=) c.534G= (p.Trp178=) n.430G= c.515G= n.1065G= n.1032G= | |
19 | g.11107489G>T | CA404081046 | LDLR | c.1173G>T (p.Trp391Cys) c.915G>T (p.Trp305Cys) c.1169G>T c.411G>T (p.Trp137Cys) c.792G>T (p.Trp264Cys) c.534G>T (p.Trp178Cys) n.430G>T c.515G>T n.1065G>T n.1032G>T | ClinVar dbSNP |
19 | g.11107490_11107493dup | CA10585192 | LDLR | c.1174_1177dup (p.Asp393ValfsTer3) c.916_919dup (p.Asp307ValfsTer3) c.1170_1173dup c.412_415dup (p.Asp139ValfsTer3) c.793_796dup (p.Asp266ValfsTer3) c.535_538dup (p.Asp180ValfsTer3) n.431_434dup c.516_519dup n.1066_1069dup n.1033_1036dup | ClinVar dbSNP |
19 | g.11107490T>A | CA404081047 | LDLR | c.1174T>A (p.Ser392Thr) c.916T>A (p.Ser306Thr) c.1170T>A c.412T>A (p.Ser138Thr) c.793T>A (p.Ser265Thr) c.535T>A (p.Ser179Thr) n.431T>A c.516T>A n.1066T>A n.1033T>A | |
19 | g.11107490T>C | CA404081048 | LDLR | c.1174T>C (p.Ser392Pro) c.916T>C (p.Ser306Pro) c.1170T>C c.412T>C (p.Ser138Pro) c.793T>C (p.Ser265Pro) c.535T>C (p.Ser179Pro) n.431T>C c.516T>C n.1066T>C n.1033T>C | |
19 | g.11107490T>G | CA404081049 | LDLR | c.1174T>G (p.Ser392Ala) c.916T>G (p.Ser306Ala) c.1170T>G c.412T>G (p.Ser138Ala) c.793T>G (p.Ser265Ala) c.535T>G (p.Ser179Ala) n.431T>G c.516T>G n.1066T>G n.1033T>G | dbSNP |
19 | g.11107490T= | CA2322768641 | LDLR | c.1174T= (p.Ser392=) c.916T= (p.Ser306=) c.1170T= c.412T= (p.Ser138=) c.793T= (p.Ser265=) c.535T= (p.Ser179=) n.431T= c.516T= n.1066T= n.1033T= | |
19 | g.11107491C>A | CA10585193 | LDLR | c.1175C>A (p.Ser392Ter) c.917C>A (p.Ser306Ter) c.1171C>A c.413C>A (p.Ser138Ter) c.794C>A (p.Ser265Ter) c.536C>A (p.Ser179Ter) n.432C>A c.517C>A n.1067C>A n.1034C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107491C= | CA2322768642 | LDLR | c.1175C= (p.Ser392=) c.917C= (p.Ser306=) c.1171C= c.413C= (p.Ser138=) c.794C= (p.Ser265=) c.536C= (p.Ser179=) n.432C= c.517C= n.1067C= n.1034C= | |
19 | g.11107491C>G | CA10585194 | LDLR | c.1175C>G (p.Ser392Ter) c.917C>G (p.Ser306Ter) c.1171C>G c.413C>G (p.Ser138Ter) c.794C>G (p.Ser265Ter) c.536C>G (p.Ser179Ter) n.432C>G c.517C>G n.1067C>G n.1034C>G | ClinVar dbSNP |
19 | g.11107491C>T | CA10576291 | LDLR | c.1175C>T (p.Ser392Leu) c.917C>T (p.Ser306Leu) c.1171C>T c.413C>T (p.Ser138Leu) c.794C>T (p.Ser265Leu) c.536C>T (p.Ser179Leu) n.432C>T c.517C>T n.1067C>T n.1034C>T | ClinVar gnomAD v4 |
19 | g.11107492A>C | CA505485103 | LDLR | c.1176A>C (p.Ser392=) c.918A>C (p.Ser306=) c.1172A>C c.414A>C (p.Ser138=) c.795A>C (p.Ser265=) c.537A>C (p.Ser179=) n.433A>C c.518A>C n.1068A>C n.1035A>C | |
19 | g.11107492A>G | CA505485104 | LDLR | c.1176A>G (p.Ser392=) c.918A>G (p.Ser306=) c.1172A>G c.414A>G (p.Ser138=) c.795A>G (p.Ser265=) c.537A>G (p.Ser179=) n.433A>G c.518A>G n.1068A>G n.1035A>G | |
19 | g.11107492A>T | CA505485105 | LDLR | c.1176A>T (p.Ser392=) c.918A>T (p.Ser306=) c.1172A>T c.414A>T (p.Ser138=) c.795A>T (p.Ser265=) c.537A>T (p.Ser179=) n.433A>T c.518A>T n.1068A>T n.1035A>T | |
19 | g.11107492_11107493delinsCC | CA2695228128 | LDLR | c.1176_1177delinsCC (p.Asp393His) c.918_919delinsCC (p.Asp307His) c.1172_1173delinsCC c.414_415delinsCC (p.Asp139His) c.795_796delinsCC (p.Asp266His) c.537_538delinsCC (p.Asp180His) n.433_434delinsCC c.518_519delinsCC n.1068_1069delinsCC n.1035_1036delinsCC | |
19 | g.11107493G>A | CA10585195 | LDLR | c.1177G>A (p.Asp393Asn) c.919G>A (p.Asp307Asn) c.1173G>A c.415G>A (p.Asp139Asn) c.796G>A (p.Asp266Asn) c.538G>A (p.Asp180Asn) n.434G>A c.519G>A n.1069G>A n.1036G>A | ClinVar dbSNP |
19 | g.11107493G>C | CA10585196 | LDLR | c.1177G>C (p.Asp393His) c.919G>C (p.Asp307His) c.1173G>C c.415G>C (p.Asp139His) c.796G>C (p.Asp266His) c.538G>C (p.Asp180His) n.434G>C c.519G>C n.1069G>C n.1036G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11107493G= | CA2322768643 | LDLR | c.1177G= (p.Asp393=) c.919G= (p.Asp307=) c.1173G= c.415G= (p.Asp139=) c.796G= (p.Asp266=) c.538G= (p.Asp180=) n.434G= c.519G= n.1069G= n.1036G= | |
19 | g.11107493G>T | CA404081050 | LDLR | c.1177G>T (p.Asp393Tyr) c.919G>T (p.Asp307Tyr) c.1173G>T c.415G>T (p.Asp139Tyr) c.796G>T (p.Asp266Tyr) c.538G>T (p.Asp180Tyr) n.434G>T c.519G>T n.1069G>T n.1036G>T | ClinVar dbSNP |
19 | g.11107494A= | CA2322768644 | LDLR | c.1178A= (p.Asp393=) c.920A= (p.Asp307=) c.1174A= c.416A= (p.Asp139=) c.797A= (p.Asp266=) c.539A= (p.Asp180=) n.435A= c.520A= n.1070A= n.1037A= | |
19 | g.11107494A>C | CA404081051 | LDLR | c.1178A>C (p.Asp393Ala) c.920A>C (p.Asp307Ala) c.1174A>C c.416A>C (p.Asp139Ala) c.797A>C (p.Asp266Ala) c.539A>C (p.Asp180Ala) n.435A>C c.520A>C n.1070A>C n.1037A>C | ClinVar |
19 | g.11107494A>G | CA404081052 | LDLR | c.1178A>G (p.Asp393Gly) c.920A>G (p.Asp307Gly) c.1174A>G c.416A>G (p.Asp139Gly) c.797A>G (p.Asp266Gly) c.539A>G (p.Asp180Gly) n.435A>G c.520A>G n.1070A>G n.1037A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11107494A>T | CA404081053 | LDLR | c.1178A>T (p.Asp393Val) c.920A>T (p.Asp307Val) c.1174A>T c.416A>T (p.Asp139Val) c.797A>T (p.Asp266Val) c.539A>T (p.Asp180Val) n.435A>T c.520A>T n.1070A>T n.1037A>T | |
19 | g.11107495T>A | CA404081054 | LDLR | c.1179T>A (p.Asp393Glu) c.921T>A (p.Asp307Glu) c.1175T>A c.417T>A (p.Asp139Glu) c.798T>A (p.Asp266Glu) c.540T>A (p.Asp180Glu) n.436T>A c.521T>A n.1071T>A n.1038T>A | gnomAD v4 |
19 | g.11107495T>C | CA505485106 | LDLR | c.1179T>C (p.Asp393=) c.921T>C (p.Asp307=) c.1175T>C c.417T>C (p.Asp139=) c.798T>C (p.Asp266=) c.540T>C (p.Asp180=) n.436T>C c.521T>C n.1071T>C n.1038T>C | gnomAD v4 |
19 | g.11107495T>G | CA10585197 | LDLR | c.1179T>G (p.Asp393Glu) c.921T>G (p.Asp307Glu) c.1175T>G c.417T>G (p.Asp139Glu) c.798T>G (p.Asp266Glu) c.540T>G (p.Asp180Glu) n.436T>G c.521T>G n.1071T>G n.1038T>G | ClinVar dbSNP |
19 | g.11107495T= | CA2322768645 | LDLR | c.1179T= (p.Asp393=) c.921T= (p.Asp307=) c.1175T= c.417T= (p.Asp139=) c.798T= (p.Asp266=) c.540T= (p.Asp180=) n.436T= c.521T= n.1071T= n.1038T= | |
19 | g.11107496G>A | CA10585198 | LDLR | c.1180G>A (p.Glu394Lys) c.922G>A (p.Glu308Lys) c.1176G>A c.418G>A (p.Glu140Lys) c.799G>A (p.Glu267Lys) c.541G>A (p.Glu181Lys) n.437G>A c.522G>A n.1072G>A n.1039G>A | ClinVar dbSNP |
19 | g.11107496G>C | CA404081055 | LDLR | c.1180G>C (p.Glu394Gln) c.922G>C (p.Glu308Gln) c.1176G>C c.418G>C (p.Glu140Gln) c.799G>C (p.Glu267Gln) c.541G>C (p.Glu181Gln) n.437G>C c.522G>C n.1072G>C n.1039G>C | |
19 | g.11107496G= | CA2322768646 | LDLR | c.1180G= (p.Glu394=) c.922G= (p.Glu308=) c.1176G= c.418G= (p.Glu140=) c.799G= (p.Glu267=) c.541G= (p.Glu181=) n.437G= c.522G= n.1072G= n.1039G= | |
19 | g.11107496G>T | CA404081056 | LDLR | c.1180G>T (p.Glu394Ter) c.922G>T (p.Glu308Ter) c.1176G>T c.418G>T (p.Glu140Ter) c.799G>T (p.Glu267Ter) c.541G>T (p.Glu181Ter) n.437G>T c.522G>T n.1072G>T n.1039G>T | ClinVar dbSNP |
19 | g.11107497A>C | CA404081057 | LDLR | c.1181A>C (p.Glu394Ala) c.923A>C (p.Glu308Ala) c.1177A>C c.419A>C (p.Glu140Ala) c.800A>C (p.Glu267Ala) c.542A>C (p.Glu181Ala) n.438A>C c.523A>C n.1073A>C n.1040A>C | |
19 | g.11107497A>G | CA404081058 | LDLR | c.1181A>G (p.Glu394Gly) c.923A>G (p.Glu308Gly) c.1177A>G c.419A>G (p.Glu140Gly) c.800A>G (p.Glu267Gly) c.542A>G (p.Glu181Gly) n.438A>G c.523A>G n.1073A>G n.1040A>G | |
19 | g.11107497A>T | CA404081059 | LDLR | c.1181A>T (p.Glu394Val) c.923A>T (p.Glu308Val) c.1177A>T c.419A>T (p.Glu140Val) c.800A>T (p.Glu267Val) c.542A>T (p.Glu181Val) n.438A>T c.523A>T n.1073A>T n.1040A>T | |
19 | g.11107497_11107504delinsAACCCATC | CA2322768647 | LDLR | c.1181_1188delinsAACCCATC (p.Glu394=) c.923_930delinsAACCCATC (p.Glu308=) c.1177_1184delinsAACCCATC c.419_426delinsAACCCATC (p.Glu140=) c.800_807delinsAACCCATC (p.Glu267=) c.542_549delinsAACCCATC (p.Glu181=) n.438_445delinsAACCCATC c.523_530delinsAACCCATC n.1073_1080delinsAACCCATC n.1040_1047delinsAACCCATC | |
19 | g.11107498A= | CA2322768648 | LDLR | c.1182A= (p.Glu394=) c.924A= (p.Glu308=) c.1178A= c.420A= (p.Glu140=) c.801A= (p.Glu267=) c.543A= (p.Glu181=) n.439A= c.524A= n.1074A= n.1041A= | |
19 | g.11107498A>C | CA404081060 | LDLR | c.1182A>C (p.Glu394Asp) c.924A>C (p.Glu308Asp) c.1178A>C c.420A>C (p.Glu140Asp) c.801A>C (p.Glu267Asp) c.543A>C (p.Glu181Asp) n.439A>C c.524A>C n.1074A>C n.1041A>C | |
19 | g.11107498A>G | CA505485107 | LDLR | c.1182A>G (p.Glu394=) c.924A>G (p.Glu308=) c.1178A>G c.420A>G (p.Glu140=) c.801A>G (p.Glu267=) c.543A>G (p.Glu181=) n.439A>G c.524A>G n.1074A>G n.1041A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11107498A>T | CA16602317 | LDLR | c.1182A>T (p.Glu394Asp) c.924A>T (p.Glu308Asp) c.1178A>T c.420A>T (p.Glu140Asp) c.801A>T (p.Glu267Asp) c.543A>T (p.Glu181Asp) n.439A>T c.524A>T n.1074A>T n.1041A>T | ClinVar dbSNP |
19 | g.11107499_11107505del | CA023793 | LDLR | c.1183_1189del (p.Pro395LysfsTer?) c.925_931del (p.Pro309LysfsTer?) c.925_931del (p.Pro309LysfsTer19) c.1179_1185del c.421_427del (p.Pro141LysfsTer?) c.802_808del (p.Pro268LysfsTer?) c.544_550del (p.Pro182LysfsTer?) n.440_446del c.525_531del n.1075_1081del n.1042_1048del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107499C>A | CA404081062 | LDLR | c.1183C>A (p.Pro395Thr) c.925C>A (p.Pro309Thr) c.1179C>A c.421C>A (p.Pro141Thr) c.802C>A (p.Pro268Thr) c.544C>A (p.Pro182Thr) n.440C>A c.525C>A n.1075C>A n.1042C>A | |
19 | g.11107499C>G | CA404081061 | LDLR | c.1183C>G (p.Pro395Ala) c.925C>G (p.Pro309Ala) c.1179C>G c.421C>G (p.Pro141Ala) c.802C>G (p.Pro268Ala) c.544C>G (p.Pro182Ala) n.440C>G c.525C>G n.1075C>G n.1042C>G | gnomAD v4 |
19 | g.11107499C>T | CA404081063 | LDLR | c.1183C>T (p.Pro395Ser) c.925C>T (p.Pro309Ser) c.1179C>T c.421C>T (p.Pro141Ser) c.802C>T (p.Pro268Ser) c.544C>T (p.Pro182Ser) n.440C>T c.525C>T n.1075C>T n.1042C>T | |
19 | g.11107500C>A | CA404081066 | LDLR | c.1184C>A (p.Pro395His) c.926C>A (p.Pro309His) c.1180C>A c.422C>A (p.Pro141His) c.803C>A (p.Pro268His) c.545C>A (p.Pro182His) n.441C>A c.526C>A n.1076C>A n.1043C>A | ClinVar dbSNP |
19 | g.11107500C= | CA2322768649 | LDLR | c.1184C= (p.Pro395=) c.926C= (p.Pro309=) c.1180C= c.422C= (p.Pro141=) c.803C= (p.Pro268=) c.545C= (p.Pro182=) n.441C= c.526C= n.1076C= n.1043C= | |
19 | g.11107500C>G | CA404081064 | LDLR | c.1184C>G (p.Pro395Arg) c.926C>G (p.Pro309Arg) c.1180C>G c.422C>G (p.Pro141Arg) c.803C>G (p.Pro268Arg) c.545C>G (p.Pro182Arg) n.441C>G c.526C>G n.1076C>G n.1043C>G | |
19 | g.11107500C>T | CA404081065 | LDLR | c.1184C>T (p.Pro395Leu) c.926C>T (p.Pro309Leu) c.1180C>T c.422C>T (p.Pro141Leu) c.803C>T (p.Pro268Leu) c.545C>T (p.Pro182Leu) n.441C>T c.526C>T n.1076C>T n.1043C>T | |
19 | g.11107501C>A | CA505485110 | LDLR | c.1185C>A (p.Pro395=) c.927C>A (p.Pro309=) c.1181C>A c.423C>A (p.Pro141=) c.804C>A (p.Pro268=) c.546C>A (p.Pro182=) n.442C>A c.527C>A n.1077C>A n.1044C>A | gnomAD v4 |
19 | g.11107501C= | CA2322768650 | LDLR | c.1185C= (p.Pro395=) c.927C= (p.Pro309=) c.1181C= c.423C= (p.Pro141=) c.804C= (p.Pro268=) c.546C= (p.Pro182=) n.442C= c.527C= n.1077C= n.1044C= | |
19 | g.11107501C>G | CA505485108 | LDLR | c.1185C>G (p.Pro395=) c.927C>G (p.Pro309=) c.1181C>G c.423C>G (p.Pro141=) c.804C>G (p.Pro268=) c.546C>G (p.Pro182=) n.442C>G c.527C>G n.1077C>G n.1044C>G | |
19 | g.11107501C>T | CA505485109 | LDLR | c.1185C>T (p.Pro395=) c.927C>T (p.Pro309=) c.1181C>T c.423C>T (p.Pro141=) c.804C>T (p.Pro268=) c.546C>T (p.Pro182=) n.442C>T c.527C>T n.1077C>T n.1044C>T | |
19 | g.11107502A= | CA2322768651 | LDLR | c.1186A= (p.Ile396=) c.928A= (p.Ile310=) c.1182A= c.424A= (p.Ile142=) c.805A= (p.Ile269=) c.547A= (p.Ile183=) n.443A= c.528A= n.1078A= n.1045A= | |
19 | g.11107502A>C | CA404081067 | LDLR | c.1186A>C (p.Ile396Leu) c.928A>C (p.Ile310Leu) c.1182A>C c.424A>C (p.Ile142Leu) c.805A>C (p.Ile269Leu) c.547A>C (p.Ile183Leu) n.443A>C c.528A>C n.1078A>C n.1045A>C | |
19 | g.11107502A>G | CA404081068 | LDLR | c.1186A>G (p.Ile396Val) c.928A>G (p.Ile310Val) c.1182A>G c.424A>G (p.Ile142Val) c.805A>G (p.Ile269Val) c.547A>G (p.Ile183Val) n.443A>G c.528A>G n.1078A>G n.1045A>G | |
19 | g.11107502A>T | CA030202 | LDLR | c.1186A>T (p.Ile396Phe) c.928A>T (p.Ile310Phe) c.1182A>T c.424A>T (p.Ile142Phe) c.805A>T (p.Ile269Phe) c.547A>T (p.Ile183Phe) n.443A>T c.528A>T n.1078A>T n.1045A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107502dup | CA658653708 | LDLR | c.1186dup (p.Ile396AsnfsTer22) c.928dup (p.Ile310AsnfsTer22) c.928dup (p.Ile310AsnfsTer8) c.1182dup c.424dup (p.Ile142AsnfsTer22) c.805dup (p.Ile269AsnfsTer22) c.547dup (p.Ile183AsnfsTer22) n.443dup c.528dup n.1078dup n.1045dup | ClinVar dbSNP |
19 | g.11107503T>A | CA404081069 | LDLR | c.1187T>A (p.Ile396Asn) c.929T>A (p.Ile310Asn) c.1183T>A c.425T>A (p.Ile142Asn) c.806T>A (p.Ile269Asn) c.548T>A (p.Ile183Asn) n.444T>A c.529T>A n.1079T>A n.1046T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11107503T>C | CA10585199 | LDLR | c.1187T>C (p.Ile396Thr) c.929T>C (p.Ile310Thr) c.1183T>C c.425T>C (p.Ile142Thr) c.806T>C (p.Ile269Thr) c.548T>C (p.Ile183Thr) n.444T>C c.529T>C n.1079T>C n.1046T>C | ClinVar dbSNP |
19 | g.11107503T>G | CA404081070 | LDLR | c.1187T>G (p.Ile396Ser) c.929T>G (p.Ile310Ser) c.1183T>G c.425T>G (p.Ile142Ser) c.806T>G (p.Ile269Ser) c.548T>G (p.Ile183Ser) n.444T>G c.529T>G n.1079T>G n.1046T>G | |
19 | g.11107503T= | CA2322768652 | LDLR | c.1187T= (p.Ile396=) c.929T= (p.Ile310=) c.1183T= c.425T= (p.Ile142=) c.806T= (p.Ile269=) c.548T= (p.Ile183=) n.444T= c.529T= n.1079T= n.1046T= | |
19 | g.11107504del | CA2579758271 | LDLR | c.1188del (p.Glu398SerfsTer?) c.930del (p.Glu312SerfsTer?) c.930del (p.Glu312SerfsTer18) c.1184del c.426del (p.Glu144SerfsTer?) c.807del (p.Glu271SerfsTer?) c.549del (p.Glu185SerfsTer?) n.445del c.530del n.1080del n.1047del | |
19 | g.11107504C>A | CA505485112 | LDLR | c.1188C>A (p.Ile396=) c.930C>A (p.Ile310=) c.1184C>A c.426C>A (p.Ile142=) c.807C>A (p.Ile269=) c.549C>A (p.Ile183=) n.445C>A c.530C>A n.1080C>A n.1047C>A | |
19 | g.11107504C>G | CA404081071 | LDLR | c.1188C>G (p.Ile396Met) c.930C>G (p.Ile310Met) c.1184C>G c.426C>G (p.Ile142Met) c.807C>G (p.Ile269Met) c.549C>G (p.Ile183Met) n.445C>G c.530C>G n.1080C>G n.1047C>G | |
19 | g.11107504C>T | CA505485111 | LDLR | c.1188C>T (p.Ile396=) c.930C>T (p.Ile310=) c.1184C>T c.426C>T (p.Ile142=) c.807C>T (p.Ile269=) c.549C>T (p.Ile183=) n.445C>T c.530C>T n.1080C>T n.1047C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11107504_11107506delinsCAA | CA2322768653 | LDLR | c.1188_1190delinsCAA (p.Ile396=) c.930_932delinsCAA (p.Ile310=) c.1184_1186delinsCAA c.426_428delinsCAA (p.Ile142=) c.807_809delinsCAA (p.Ile269=) c.549_551delinsCAA (p.Ile183=) n.445_447delinsCAA c.530_532delinsCAA n.1080_1082delinsCAA n.1047_1049delinsCAA | |
19 | g.11107505A>C | CA404081072 | LDLR | c.1189A>C (p.Lys397Gln) c.931A>C (p.Lys311Gln) c.1185A>C c.427A>C (p.Lys143Gln) c.808A>C (p.Lys270Gln) c.550A>C (p.Lys184Gln) n.446A>C c.531A>C n.1081A>C n.1048A>C | |
19 | g.11107505A>G | CA404081073 | LDLR | c.1189A>G (p.Lys397Glu) c.931A>G (p.Lys311Glu) c.1185A>G c.427A>G (p.Lys143Glu) c.808A>G (p.Lys270Glu) c.550A>G (p.Lys184Glu) n.446A>G c.531A>G n.1081A>G n.1048A>G | |
19 | g.11107505A>T | CA404081074 | LDLR | c.1189A>T (p.Lys397Ter) c.931A>T (p.Lys311Ter) c.1185A>T c.427A>T (p.Lys143Ter) c.808A>T (p.Lys270Ter) c.550A>T (p.Lys184Ter) n.446A>T c.531A>T n.1081A>T n.1048A>T | |
19 | g.11107507dup | CA2840306314 | LDLR | c.1191dup (p.Glu398ArgfsTer20) c.933dup (p.Glu312ArgfsTer20) c.933dup (p.Glu312ArgfsTer6) c.1187dup c.429dup (p.Glu144ArgfsTer20) c.810dup (p.Glu271ArgfsTer20) c.552dup (p.Glu185ArgfsTer20) n.448dup c.533dup n.1083dup n.1050dup | |
19 | g.11107507del | CA10585203 | LDLR | c.1191del (p.Glu398SerfsTer?) c.933del (p.Glu312SerfsTer?) c.933del (p.Glu312SerfsTer18) c.1187del c.429del (p.Glu144SerfsTer?) c.810del (p.Glu271SerfsTer?) c.552del (p.Glu185SerfsTer?) n.448del c.533del n.1083del n.1050del | ClinVar dbSNP gnomAD v4 |
19 | g.11107506_11107507del | CA10585202 | LDLR | c.1190_1191del (p.Lys397ArgfsTer20) c.932_933del (p.Lys311ArgfsTer20) c.932_933del (p.Lys311ArgfsTer6) c.1186_1187del c.428_429del (p.Lys143ArgfsTer20) c.809_810del (p.Lys270ArgfsTer20) c.551_552del (p.Lys184ArgfsTer20) n.447_448del c.532_533del n.1082_1083del n.1049_1050del | ClinVar dbSNP |
19 | g.11107506A= | CA2322768654 | LDLR | c.1190A= (p.Lys397=) c.932A= (p.Lys311=) c.1186A= c.428A= (p.Lys143=) c.809A= (p.Lys270=) c.551A= (p.Lys184=) n.447A= c.532A= n.1082A= n.1049A= | |
19 | g.11107506A>C | CA10585200 | LDLR | c.1190A>C (p.Lys397Thr) c.932A>C (p.Lys311Thr) c.1186A>C c.428A>C (p.Lys143Thr) c.809A>C (p.Lys270Thr) c.551A>C (p.Lys184Thr) n.447A>C c.532A>C n.1082A>C n.1049A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107506A>G | CA10585201 | LDLR | c.1190A>G (p.Lys397Arg) c.932A>G (p.Lys311Arg) c.1186A>G c.428A>G (p.Lys143Arg) c.809A>G (p.Lys270Arg) c.551A>G (p.Lys184Arg) n.447A>G c.532A>G n.1082A>G n.1049A>G | ClinVar dbSNP gnomAD v4 |
19 | g.[11107506A>G;11107513C>G] | CA645373256 | LDLR | c.[1190A>G;1197C>G] (p.[Lys397Arg;Cys399Trp]) c.[932A>G;939C>G] (p.[Lys311Arg;Cys313Trp]) c.[1186A>G;1193C>G] c.[428A>G;435C>G] (p.[Lys143Arg;Cys145Trp]) c.[809A>G;816C>G] (p.[Lys270Arg;Cys272Trp]) c.[551A>G;558C>G] (p.[Lys184Arg;Cys186Trp]) n.[447A>G;454C>G] c.[532A>G;539C>G] n.[1082A>G;1089C>G] n.[1049A>G;1056C>G] | |
19 | g.11107506A>T | CA404081075 | LDLR | c.1190A>T (p.Lys397Ile) c.932A>T (p.Lys311Ile) c.1186A>T c.428A>T (p.Lys143Ile) c.809A>T (p.Lys270Ile) c.551A>T (p.Lys184Ile) n.447A>T c.532A>T n.1082A>T n.1049A>T | |
19 | g.11107506_11107508delinsAAG | CA2322768655 | LDLR | c.1190_1192delinsAAG (p.Lys397=) c.932_934delinsAAG (p.Lys311=) c.1186_1188delinsAAG c.428_430delinsAAG (p.Lys143=) c.809_811delinsAAG (p.Lys270=) c.551_553delinsAAG (p.Lys184=) n.447_449delinsAAG c.532_534delinsAAG n.1082_1084delinsAAG n.1049_1051delinsAAG | |
19 | g.11107506_11107513delinsAAGAGTGC | CA2322768656 | LDLR | c.1190_1197delinsAAGAGTGC (p.Lys397=) c.932_939delinsAAGAGTGC (p.Lys311=) c.1186_1193delinsAAGAGTGC c.428_435delinsAAGAGTGC (p.Lys143=) c.809_816delinsAAGAGTGC (p.Lys270=) c.551_558delinsAAGAGTGC (p.Lys184=) n.447_454delinsAAGAGTGC c.532_539delinsAAGAGTGC n.1082_1089delinsAAGAGTGC n.1049_1056delinsAAGAGTGC | |
19 | g.11107506_11107513delinsGAGAGTGG | CA658656796 | LDLR | c.1190_1197delinsGAGAGTGG (p.Lys397_Cys399delinsArgGluTrp) c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) c.1186_1193delinsGAGAGTGG c.428_435delinsGAGAGTGG (p.Lys143_Cys145delinsArgGluTrp) c.809_816delinsGAGAGTGG (p.Lys270_Cys272delinsArgGluTrp) c.551_558delinsGAGAGTGG (p.Lys184_Cys186delinsArgGluTrp) n.447_454delinsGAGAGTGG c.532_539delinsGAGAGTGG n.1082_1089delinsGAGAGTGG n.1049_1056delinsGAGAGTGG | ClinVar dbSNP |