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.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | 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.11102664_11105600del | CA2580061394 | LDLR | c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del | ClinVar |
| 19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
| 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.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
| 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.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | CA2322767386 | LDLR | c.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=) c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=) c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=) c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | |
| 19 | g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | CA2322767387 | LDLR | c.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=) c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=) c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=) c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | |
| 19 | g.11105348_11105410del | CA16602300 | LDLR | c.700_762del (p.Cys234_Asp254del) c.442_504del (p.Cys148_Asp168del) c.696_758del c.314-2044_314-1982del (n.314-2044_314-1982del) c.319_381del (p.Cys107_Asp127del) c.314-1217_314-1155del (n.314-1217_314-1155del) c.42_104del n.592_654del n.559_621del | ClinVar dbSNP |
| 19 | g.11105348_11105410delinsA | CA645373223 | LDLR | c.700_762delinsA (p.Cys234LysfsTer11) c.442_504delinsA (p.Cys148LysfsTer11) c.696_758delinsA c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA) c.319_381delinsA (p.Cys107LysfsTer11) c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA) c.42_104delinsA n.592_654delinsA n.559_621delinsA | ClinVar dbSNP |
| 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.11105403_11105427del | CA2695223203 | LDLR | c.755_779del (p.Ala252GlufsTer?) c.497_521del (p.Ala166GlufsTer?) c.751_775del c.314-1989_314-1965del (n.314-1989_314-1965del) c.374_398del (p.Ala125GlufsTer?) c.314-1162_314-1138del (n.314-1162_314-1138del) c.97_121del n.647_671del n.614_638del | |
| 19 | g.11105404C>A | CA505743184 | LDLR | c.756C>A (p.Ala252=) c.498C>A (p.Ala166=) c.752C>A c.314-1988C>A (n.314-1988C>A) c.375C>A (p.Ala125=) c.314-1161C>A (n.314-1161C>A) c.98C>A n.648C>A n.615C>A | |
| 19 | g.11105404C= | CA2322767432 | LDLR | c.756C= (p.Ala252=) c.498C= (p.Ala166=) c.752C= c.314-1988C= (n.314-1988C=) c.375C= (p.Ala125=) c.314-1161C= (n.314-1161C=) c.98C= n.648C= n.615C= | |
| 19 | g.11105404C>G | CA505743185 | LDLR | c.756C>G (p.Ala252=) c.498C>G (p.Ala166=) c.752C>G c.314-1988C>G (n.314-1988C>G) c.375C>G (p.Ala125=) c.314-1161C>G (n.314-1161C>G) c.98C>G n.648C>G n.615C>G | gnomAD v4 |
| 19 | g.11105404C>T | CA043710 | LDLR | c.756C>T (p.Ala252=) c.498C>T (p.Ala166=) c.752C>T c.314-1988C>T (n.314-1988C>T) c.375C>T (p.Ala125=) c.314-1161C>T (n.314-1161C>T) c.98C>T n.648C>T n.615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105410_11105427del | CA2695238662 | LDLR | c.762_779del (p.Asp254_Cys259del) c.504_521del (p.Asp168_Cys173del) c.758_775del c.314-1982_314-1965del (n.314-1982_314-1965del) c.381_398del (p.Asp127_Cys132del) c.314-1155_314-1138del (n.314-1155_314-1138del) c.104_121del n.654_671del n.621_638del | |
| 19 | g.11105405T>A | CA404076833 | LDLR | c.757T>A (p.Cys253Ser) c.499T>A (p.Cys167Ser) c.753T>A c.314-1987T>A (n.314-1987T>A) c.376T>A (p.Cys126Ser) c.314-1160T>A (n.314-1160T>A) c.99T>A n.649T>A n.616T>A | |
| 19 | g.11105405T>C | CA10584947 | LDLR | c.757T>C (p.Cys253Arg) c.499T>C (p.Cys167Arg) c.753T>C c.314-1987T>C (n.314-1987T>C) c.376T>C (p.Cys126Arg) c.314-1160T>C (n.314-1160T>C) c.99T>C n.649T>C n.616T>C | ClinVar dbSNP |
| 19 | g.11105405T>G | CA404076825 | LDLR | c.757T>G (p.Cys253Gly) c.499T>G (p.Cys167Gly) c.753T>G c.314-1987T>G (n.314-1987T>G) c.376T>G (p.Cys126Gly) c.314-1160T>G (n.314-1160T>G) c.99T>G n.649T>G n.616T>G | |
| 19 | g.11105405T= | CA2322767433 | LDLR | c.757T= (p.Cys253=) c.499T= (p.Cys167=) c.753T= c.314-1987T= (n.314-1987T=) c.376T= (p.Cys126=) c.314-1160T= (n.314-1160T=) c.99T= n.649T= n.616T= | |
| 19 | g.11105406G>A | CA10584948 | LDLR | c.758G>A (p.Cys253Tyr) c.500G>A (p.Cys167Tyr) c.754G>A c.314-1986G>A (n.314-1986G>A) c.377G>A (p.Cys126Tyr) c.314-1159G>A (n.314-1159G>A) c.100G>A n.650G>A n.617G>A | ClinVar dbSNP |
| 19 | g.11105406G>C | CA404076837 | LDLR | c.758G>C (p.Cys253Ser) c.500G>C (p.Cys167Ser) c.754G>C c.314-1986G>C (n.314-1986G>C) c.377G>C (p.Cys126Ser) c.314-1159G>C (n.314-1159G>C) c.100G>C n.650G>C n.617G>C | ClinVar dbSNP |
| 19 | g.11105406G= | CA2322767434 | LDLR | c.758G= (p.Cys253=) c.500G= (p.Cys167=) c.754G= c.314-1986G= (n.314-1986G=) c.377G= (p.Cys126=) c.314-1159G= (n.314-1159G=) c.100G= n.650G= n.617G= | |
| 19 | g.11105406G>T | CA404076839 | LDLR | c.758G>T (p.Cys253Phe) c.500G>T (p.Cys167Phe) c.754G>T c.314-1986G>T (n.314-1986G>T) c.377G>T (p.Cys126Phe) c.314-1159G>T (n.314-1159G>T) c.100G>T n.650G>T n.617G>T | |
| 19 | g.11105407C>A | CA023707 | LDLR | c.759C>A (p.Cys253Ter) c.501C>A (p.Cys167Ter) c.755C>A c.314-1985C>A (n.314-1985C>A) c.378C>A (p.Cys126Ter) c.314-1158C>A (n.314-1158C>A) c.101C>A n.651C>A n.618C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105407C= | CA2322767435 | LDLR | c.759C= (p.Cys253=) c.501C= (p.Cys167=) c.755C= c.314-1985C= (n.314-1985C=) c.378C= (p.Cys126=) c.314-1158C= (n.314-1158C=) c.101C= n.651C= n.618C= | |
| 19 | g.11105407C>G | CA10584949 | LDLR | c.759C>G (p.Cys253Trp) c.501C>G (p.Cys167Trp) c.755C>G c.314-1985C>G (n.314-1985C>G) c.378C>G (p.Cys126Trp) c.314-1158C>G (n.314-1158C>G) c.101C>G n.651C>G n.618C>G | ClinVar dbSNP |
| 19 | g.11105407C>T | CA043722 | LDLR | c.759C>T (p.Cys253=) c.501C>T (p.Cys167=) c.755C>T c.314-1985C>T (n.314-1985C>T) c.378C>T (p.Cys126=) c.314-1158C>T (n.314-1158C>T) c.101C>T n.651C>T n.618C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105408G>A | CA023709 | LDLR | c.760G>A (p.Asp254Asn) c.502G>A (p.Asp168Asn) c.756G>A c.314-1984G>A (n.314-1984G>A) c.379G>A (p.Asp127Asn) c.314-1157G>A (n.314-1157G>A) c.102G>A n.652G>A n.619G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105408G>C | CA10584950 | LDLR | c.760G>C (p.Asp254His) c.502G>C (p.Asp168His) c.756G>C c.314-1984G>C (n.314-1984G>C) c.379G>C (p.Asp127His) c.314-1157G>C (n.314-1157G>C) c.102G>C n.652G>C n.619G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105408G= | CA2322767436 | LDLR | c.760G= (p.Asp254=) c.502G= (p.Asp168=) c.756G= c.314-1984G= (n.314-1984G=) c.379G= (p.Asp127=) c.314-1157G= (n.314-1157G=) c.102G= n.652G= n.619G= | |
| 19 | g.11105408G>T | CA10584951 | LDLR | c.760G>T (p.Asp254Tyr) c.502G>T (p.Asp168Tyr) c.756G>T c.314-1984G>T (n.314-1984G>T) c.379G>T (p.Asp127Tyr) c.314-1157G>T (n.314-1157G>T) c.102G>T n.652G>T n.619G>T | ClinVar dbSNP |
| 19 | g.11105409A= | CA2322767437 | LDLR | c.761A= (p.Asp254=) c.503A= (p.Asp168=) c.757A= c.314-1983A= (n.314-1983A=) c.380A= (p.Asp127=) c.314-1156A= (n.314-1156A=) c.103A= n.653A= n.620A= | |
| 19 | g.11105409A>C | CA16602301 | LDLR | c.761A>C (p.Asp254Ala) c.503A>C (p.Asp168Ala) c.757A>C c.314-1983A>C (n.314-1983A>C) c.380A>C (p.Asp127Ala) c.314-1156A>C (n.314-1156A>C) c.103A>C n.653A>C n.620A>C | ClinVar dbSNP |
| 19 | g.11105409A>G | CA10584952 | LDLR | c.761A>G (p.Asp254Gly) c.503A>G (p.Asp168Gly) c.757A>G c.314-1983A>G (n.314-1983A>G) c.380A>G (p.Asp127Gly) c.314-1156A>G (n.314-1156A>G) c.103A>G n.653A>G n.620A>G | ClinVar dbSNP |
| 19 | g.11105409A>T | CA404076860 | LDLR | c.761A>T (p.Asp254Val) c.503A>T (p.Asp168Val) c.757A>T c.314-1983A>T (n.314-1983A>T) c.380A>T (p.Asp127Val) c.314-1156A>T (n.314-1156A>T) c.103A>T n.653A>T n.620A>T | |
| 19 | g.11105409_11105416delinsACAACGAC | CA2322767438 | LDLR | c.761_768delinsACAACGAC (p.Asp254=) c.503_510delinsACAACGAC (p.Asp168=) c.757_764delinsACAACGAC c.314-1983_314-1976delinsACAACGAC (n.314-1983_314-1976delinsACAACGAC) c.380_387delinsACAACGAC (p.Asp127=) c.314-1156_314-1149delinsACAACGAC (n.314-1156_314-1149delinsACAACGAC) c.103_110delinsACAACGAC n.653_660delinsACAACGAC n.620_627delinsACAACGAC | |
| 19 | g.11105410C>A | CA043750 | LDLR | c.762C>A (p.Asp254Glu) c.504C>A (p.Asp168Glu) c.758C>A c.314-1982C>A (n.314-1982C>A) c.381C>A (p.Asp127Glu) c.314-1155C>A (n.314-1155C>A) c.104C>A n.654C>A n.621C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105410C= | CA2322767439 | LDLR | c.762C= (p.Asp254=) c.504C= (p.Asp168=) c.758C= c.314-1982C= (n.314-1982C=) c.381C= (p.Asp127=) c.314-1155C= (n.314-1155C=) c.104C= n.654C= n.621C= | |
| 19 | g.11105410C>G | CA404076865 | LDLR | c.762C>G (p.Asp254Glu) c.504C>G (p.Asp168Glu) c.758C>G c.314-1982C>G (n.314-1982C>G) c.381C>G (p.Asp127Glu) c.314-1155C>G (n.314-1155C>G) c.104C>G n.654C>G n.621C>G | |
| 19 | g.11105410C>T | CA505743193 | LDLR | c.762C>T (p.Asp254=) c.504C>T (p.Asp168=) c.758C>T c.314-1982C>T (n.314-1982C>T) c.381C>T (p.Asp127=) c.314-1155C>T (n.314-1155C>T) c.104C>T n.654C>T n.621C>T | ClinVar dbSNP |
| 19 | g.11105411_11105417del | CA913188993 | LDLR | c.763_769del (p.Asn255ProfsTer?) c.505_511del (p.Asn169ProfsTer?) c.759_765del c.314-1981_314-1975del (n.314-1981_314-1975del) c.382_388del (p.Asn128ProfsTer?) c.314-1154_314-1148del (n.314-1154_314-1148del) c.105_111del n.655_661del n.622_628del | ClinVar dbSNP |