UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.11107408A>C | CA505485060 | LDLR | c.1092A>C (p.Gly364=) c.834A>C (p.Gly278=) c.1088A>C c.330A>C (p.Gly110=) c.711A>C (p.Gly237=) c.453A>C (p.Gly151=) n.349A>C c.434A>C n.984A>C n.951A>C | |
| 19 | g.11107408A>G | CA505485061 | LDLR | c.1092A>G (p.Gly364=) c.834A>G (p.Gly278=) c.1088A>G c.330A>G (p.Gly110=) c.711A>G (p.Gly237=) c.453A>G (p.Gly151=) n.349A>G c.434A>G n.984A>G n.951A>G | |
| 19 | g.11107408A>T | CA505485062 | LDLR | c.1092A>T (p.Gly364=) c.834A>T (p.Gly278=) c.1088A>T c.330A>T (p.Gly110=) c.711A>T (p.Gly237=) c.453A>T (p.Gly151=) n.349A>T c.434A>T n.984A>T n.951A>T | |
| 19 | g.11107409C>A | CA404080559 | LDLR | c.1093C>A (p.Pro365Thr) c.835C>A (p.Pro279Thr) c.1089C>A c.331C>A (p.Pro111Thr) c.712C>A (p.Pro238Thr) c.454C>A (p.Pro152Thr) n.350C>A c.435C>A n.985C>A n.952C>A | |
| 19 | g.11107409C= | CA2322768574 | LDLR | c.1093C= (p.Pro365=) c.835C= (p.Pro279=) c.1089C= c.331C= (p.Pro111=) c.712C= (p.Pro238=) c.454C= (p.Pro152=) n.350C= c.435C= n.985C= n.952C= | |
| 19 | g.11107409C>G | CA404080556 | LDLR | c.1093C>G (p.Pro365Ala) c.835C>G (p.Pro279Ala) c.1089C>G c.331C>G (p.Pro111Ala) c.712C>G (p.Pro238Ala) c.454C>G (p.Pro152Ala) n.350C>G c.435C>G n.985C>G n.952C>G | |
| 19 | g.11107409C>T | CA404080554 | LDLR | c.1093C>T (p.Pro365Ser) c.835C>T (p.Pro279Ser) c.1089C>T c.331C>T (p.Pro111Ser) c.712C>T (p.Pro238Ser) c.454C>T (p.Pro152Ser) n.350C>T c.435C>T n.985C>T n.952C>T | ClinVar dbSNP |
| 19 | g.11107410C>A | CA305298509 | LDLR | c.1094C>A (p.Pro365His) c.836C>A (p.Pro279His) c.1090C>A c.332C>A (p.Pro111His) c.713C>A (p.Pro238His) c.455C>A (p.Pro152His) n.351C>A c.436C>A n.986C>A n.953C>A | dbSNP gnomAD v4 |
| 19 | g.11107410C= | CA2322768575 | LDLR | c.1094C= (p.Pro365=) c.836C= (p.Pro279=) c.1090C= c.332C= (p.Pro111=) c.713C= (p.Pro238=) c.455C= (p.Pro152=) n.351C= c.436C= n.986C= n.953C= | |
| 19 | g.11107410C>G | CA404080563 | LDLR | c.1094C>G (p.Pro365Arg) c.836C>G (p.Pro279Arg) c.1090C>G c.332C>G (p.Pro111Arg) c.713C>G (p.Pro238Arg) c.455C>G (p.Pro152Arg) n.351C>G c.436C>G n.986C>G n.953C>G | |
| 19 | g.11107410C>T | CA404080564 | LDLR | c.1094C>T (p.Pro365Leu) c.836C>T (p.Pro279Leu) c.1090C>T c.332C>T (p.Pro111Leu) c.713C>T (p.Pro238Leu) c.455C>T (p.Pro152Leu) n.351C>T c.436C>T n.986C>T n.953C>T | |
| 19 | g.11107411C>A | CA505485063 | LDLR | c.1095C>A (p.Pro365=) c.837C>A (p.Pro279=) c.1091C>A c.333C>A (p.Pro111=) c.714C>A (p.Pro238=) c.456C>A (p.Pro152=) n.352C>A c.437C>A n.987C>A n.954C>A | |
| 19 | g.11107411C= | CA2322768576 | LDLR | c.1095C= (p.Pro365=) c.837C= (p.Pro279=) c.1091C= c.333C= (p.Pro111=) c.714C= (p.Pro238=) c.456C= (p.Pro152=) n.352C= c.437C= n.987C= n.954C= | |
| 19 | g.11107411C>G | CA505485064 | LDLR | c.1095C>G (p.Pro365=) c.837C>G (p.Pro279=) c.1091C>G c.333C>G (p.Pro111=) c.714C>G (p.Pro238=) c.456C>G (p.Pro152=) n.352C>G c.437C>G n.987C>G n.954C>G | gnomAD v4 |
| 19 | g.11107411C>T | CA505485065 | LDLR | c.1095C>T (p.Pro365=) c.837C>T (p.Pro279=) c.1091C>T c.333C>T (p.Pro111=) c.714C>T (p.Pro238=) c.456C>T (p.Pro152=) n.352C>T c.437C>T n.987C>T n.954C>T | |
| 19 | g.11107412A>C | CA404080566 | LDLR | c.1096A>C (p.Asn366His) c.838A>C (p.Asn280His) c.1092A>C c.334A>C (p.Asn112His) c.715A>C (p.Asn239His) c.457A>C (p.Asn153His) n.353A>C c.438A>C n.988A>C n.955A>C | |
| 19 | g.11107412A>G | CA404080569 | LDLR | c.1096A>G (p.Asn366Asp) c.838A>G (p.Asn280Asp) c.1092A>G c.334A>G (p.Asn112Asp) c.715A>G (p.Asn239Asp) c.457A>G (p.Asn153Asp) n.353A>G c.438A>G n.988A>G n.955A>G | |
| 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 |