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.11105341_11105363del | CA2582473461 | LDLR | c.693_715del (p.Leu232ProfsTer26) c.435_457del (p.Leu146ProfsTer26) c.689_711del c.314-2051_314-2029del (n.314-2051_314-2029del) c.312_334del (p.Leu105ProfsTer26) c.314-1224_314-1202del (n.314-1224_314-1202del) c.35_57del n.585_607del n.552_574del | gnomAD v4 |
| 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_11105368delinsA | CA2573050571 | LDLR | c.700_720delinsA (p.Cys234MetfsTer25) c.442_462delinsA (p.Cys148MetfsTer25) c.696_716delinsA c.314-2044_314-2024delinsA (n.314-2044_314-2024delinsA) c.319_339delinsA (p.Cys107MetfsTer25) c.314-1217_314-1197delinsA (n.314-1217_314-1197delinsA) c.42_62delinsA n.592_612delinsA n.559_579delinsA | |
| 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.11105363_11105371del | CA2695223200 | LDLR | c.715_723del (p.Phe239_Cys241del) c.457_465del (p.Phe153_Cys155del) c.711_719del c.314-2029_314-2021del (n.314-2029_314-2021del) c.334_342del (p.Phe112_Cys114del) c.314-1202_314-1194del (n.314-1202_314-1194del) c.57_65del n.607_615del n.574_582del | |
| 19 | g.11105363T>A | CA404076536 | LDLR | c.715T>A (p.Phe239Ile) c.457T>A (p.Phe153Ile) c.711T>A c.314-2029T>A (n.314-2029T>A) c.334T>A (p.Phe112Ile) c.314-1202T>A (n.314-1202T>A) c.57T>A n.607T>A n.574T>A | |
| 19 | g.11105363T>C | CA404076539 | LDLR | c.715T>C (p.Phe239Leu) c.457T>C (p.Phe153Leu) c.711T>C c.314-2029T>C (n.314-2029T>C) c.334T>C (p.Phe112Leu) c.314-1202T>C (n.314-1202T>C) c.57T>C n.607T>C n.574T>C | gnomAD v4 |
| 19 | g.11105363T>G | CA10584928 | LDLR | c.715T>G (p.Phe239Val) c.457T>G (p.Phe153Val) c.711T>G c.314-2029T>G (n.314-2029T>G) c.334T>G (p.Phe112Val) c.314-1202T>G (n.314-1202T>G) c.57T>G n.607T>G n.574T>G | ClinVar dbSNP |
| 19 | g.11105363T= | CA2322767398 | LDLR | c.715T= (p.Phe239=) c.457T= (p.Phe153=) c.711T= c.314-2029T= (n.314-2029T=) c.334T= (p.Phe112=) c.314-1202T= (n.314-1202T=) c.57T= n.607T= n.574T= | |
| 19 | g.11105364T>A | CA404076545 | LDLR | c.716T>A (p.Phe239Tyr) c.458T>A (p.Phe153Tyr) c.712T>A c.314-2028T>A (n.314-2028T>A) c.335T>A (p.Phe112Tyr) c.314-1201T>A (n.314-1201T>A) c.58T>A n.608T>A n.575T>A | |
| 19 | g.11105364T>C | CA404076548 | LDLR | c.716T>C (p.Phe239Ser) c.458T>C (p.Phe153Ser) c.712T>C c.314-2028T>C (n.314-2028T>C) c.335T>C (p.Phe112Ser) c.314-1201T>C (n.314-1201T>C) c.58T>C n.608T>C n.575T>C | |
| 19 | g.11105364T>G | CA10584929 | LDLR | c.716T>G (p.Phe239Cys) c.458T>G (p.Phe153Cys) c.712T>G c.314-2028T>G (n.314-2028T>G) c.335T>G (p.Phe112Cys) c.314-1201T>G (n.314-1201T>G) c.58T>G n.608T>G n.575T>G | ClinVar dbSNP |
| 19 | g.11105364T= | CA2322767399 | LDLR | c.716T= (p.Phe239=) c.458T= (p.Phe153=) c.712T= c.314-2028T= (n.314-2028T=) c.335T= (p.Phe112=) c.314-1201T= (n.314-1201T=) c.58T= n.608T= n.575T= | |
| 19 | g.11105364_11105365delinsTC | CA2322767400 | LDLR | c.716_717delinsTC (p.Phe239=) c.458_459delinsTC (p.Phe153=) c.712_713delinsTC c.314-2028_314-2027delinsTC (n.314-2028_314-2027delinsTC) c.335_336delinsTC (p.Phe112=) c.314-1201_314-1200delinsTC (n.314-1201_314-1200delinsTC) c.58_59delinsTC n.608_609delinsTC n.575_576delinsTC | |
| 19 | g.11105365C>A | CA404076551 | LDLR | c.717C>A (p.Phe239Leu) c.459C>A (p.Phe153Leu) c.713C>A c.314-2027C>A (n.314-2027C>A) c.336C>A (p.Phe112Leu) c.314-1200C>A (n.314-1200C>A) c.59C>A n.609C>A n.576C>A | |
| 19 | g.11105365C>G | CA404076555 | LDLR | c.717C>G (p.Phe239Leu) c.459C>G (p.Phe153Leu) c.713C>G c.314-2027C>G (n.314-2027C>G) c.336C>G (p.Phe112Leu) c.314-1200C>G (n.314-1200C>G) c.59C>G n.609C>G n.576C>G | |
| 19 | g.11105365C>T | CA505743119 | LDLR | c.717C>T (p.Phe239=) c.459C>T (p.Phe153=) c.713C>T c.314-2027C>T (n.314-2027C>T) c.336C>T (p.Phe112=) c.314-1200C>T (n.314-1200C>T) c.59C>T n.609C>T n.576C>T | |
| 19 | g.11105366del | CA645294118 | LDLR | c.718del (p.Gln240SerfsTer?) c.460del (p.Gln154SerfsTer?) c.714del c.314-2026del (n.314-2026del) c.337del (p.Gln113SerfsTer?) c.314-1199del (n.314-1199del) c.60del n.610del n.577del | ClinVar dbSNP |
| 19 | g.11105366C>A | CA404076558 | LDLR | c.718C>A (p.Gln240Lys) c.460C>A (p.Gln154Lys) c.714C>A c.314-2026C>A (n.314-2026C>A) c.337C>A (p.Gln113Lys) c.314-1199C>A (n.314-1199C>A) c.60C>A n.610C>A n.577C>A | COSMIC |
| 19 | g.11105366C= | CA2322767401 | LDLR | c.718C= (p.Gln240=) c.460C= (p.Gln154=) c.714C= c.314-2026C= (n.314-2026C=) c.337C= (p.Gln113=) c.314-1199C= (n.314-1199C=) c.60C= n.610C= n.577C= | |
| 19 | g.11105366C>G | CA404076561 | LDLR | c.718C>G (p.Gln240Glu) c.460C>G (p.Gln154Glu) c.714C>G c.314-2026C>G (n.314-2026C>G) c.337C>G (p.Gln113Glu) c.314-1199C>G (n.314-1199C>G) c.60C>G n.610C>G n.577C>G | |
| 19 | g.11105366C>T | CA10584930 | LDLR | c.718C>T (p.Gln240Ter) c.460C>T (p.Gln154Ter) c.714C>T c.314-2026C>T (n.314-2026C>T) c.337C>T (p.Gln113Ter) c.314-1199C>T (n.314-1199C>T) c.60C>T n.610C>T n.577C>T | ClinVar dbSNP |
| 19 | g.11105367A>C | CA404076565 | LDLR | c.719A>C (p.Gln240Pro) c.461A>C (p.Gln154Pro) c.715A>C c.314-2025A>C (n.314-2025A>C) c.338A>C (p.Gln113Pro) c.314-1198A>C (n.314-1198A>C) c.61A>C n.611A>C n.578A>C | |
| 19 | g.11105367A>G | CA404076569 | LDLR | c.719A>G (p.Gln240Arg) c.461A>G (p.Gln154Arg) c.715A>G c.314-2025A>G (n.314-2025A>G) c.338A>G (p.Gln113Arg) c.314-1198A>G (n.314-1198A>G) c.61A>G n.611A>G n.578A>G | |
| 19 | g.11105367A>T | CA404076567 | LDLR | c.719A>T (p.Gln240Leu) c.461A>T (p.Gln154Leu) c.715A>T c.314-2025A>T (n.314-2025A>T) c.338A>T (p.Gln113Leu) c.314-1198A>T (n.314-1198A>T) c.61A>T n.611A>T n.578A>T | |
| 19 | g.11105368G>A | CA505743126 | LDLR | c.720G>A (p.Gln240=) c.462G>A (p.Gln154=) c.716G>A c.314-2024G>A (n.314-2024G>A) c.339G>A (p.Gln113=) c.314-1197G>A (n.314-1197G>A) c.62G>A n.612G>A n.579G>A | ClinVar dbSNP |
| 19 | g.11105368G>C | CA404076573 | LDLR | c.720G>C (p.Gln240His) c.462G>C (p.Gln154His) c.716G>C c.314-2024G>C (n.314-2024G>C) c.339G>C (p.Gln113His) c.314-1197G>C (n.314-1197G>C) c.62G>C n.612G>C n.579G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105368G= | CA2322767402 | LDLR | c.720G= (p.Gln240=) c.462G= (p.Gln154=) c.716G= c.314-2024G= (n.314-2024G=) c.339G= (p.Gln113=) c.314-1197G= (n.314-1197G=) c.62G= n.612G= n.579G= | |
| 19 | g.11105368G>T | CA404076575 | LDLR | c.720G>T (p.Gln240His) c.462G>T (p.Gln154His) c.716G>T c.314-2024G>T (n.314-2024G>T) c.339G>T (p.Gln113His) c.314-1197G>T (n.314-1197G>T) c.62G>T n.612G>T n.579G>T | |
| 19 | g.11105369T>A | CA404076578 | LDLR | c.721T>A (p.Cys241Ser) c.463T>A (p.Cys155Ser) c.717T>A c.314-2023T>A (n.314-2023T>A) c.340T>A (p.Cys114Ser) c.314-1196T>A (n.314-1196T>A) c.63T>A n.613T>A n.580T>A | ClinVar dbSNP |
| 19 | g.11105369T>C | CA10584931 | LDLR | c.721T>C (p.Cys241Arg) c.463T>C (p.Cys155Arg) c.717T>C c.314-2023T>C (n.314-2023T>C) c.340T>C (p.Cys114Arg) c.314-1196T>C (n.314-1196T>C) c.63T>C n.613T>C n.580T>C | ClinVar dbSNP |
| 19 | g.11105369T>G | CA10584932 | LDLR | c.721T>G (p.Cys241Gly) c.463T>G (p.Cys155Gly) c.717T>G c.314-2023T>G (n.314-2023T>G) c.340T>G (p.Cys114Gly) c.314-1196T>G (n.314-1196T>G) c.63T>G n.613T>G n.580T>G | ClinVar dbSNP |
| 19 | g.11105369T= | CA2322767403 | LDLR | c.721T= (p.Cys241=) c.463T= (p.Cys155=) c.717T= c.314-2023T= (n.314-2023T=) c.340T= (p.Cys114=) c.314-1196T= (n.314-1196T=) c.63T= n.613T= n.580T= | |
| 19 | g.11105370G>A | CA10584933 | LDLR | c.722G>A (p.Cys241Tyr) c.464G>A (p.Cys155Tyr) c.718G>A c.314-2022G>A (n.314-2022G>A) c.341G>A (p.Cys114Tyr) c.314-1195G>A (n.314-1195G>A) c.64G>A n.614G>A n.581G>A | ClinVar dbSNP |