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.11105345_11105357del | CA2695223198 | LDLR | c.697_709del (p.Thr233ProfsTer?) c.439_451del (p.Thr147ProfsTer?) c.693_705del c.314-2047_314-2035del (n.314-2047_314-2035del) c.316_328del (p.Thr106ProfsTer?) c.314-1220_314-1208del (n.314-1220_314-1208del) c.39_51del n.589_601del n.556_568del | |
19 | g.11105346_11105352del | CA2582473462 | LDLR | c.698_704del (p.Thr233IlefsTer?) c.440_446del (p.Thr147IlefsTer?) c.694_700del c.314-2046_314-2040del (n.314-2046_314-2040del) c.317_323del (p.Thr106IlefsTer?) c.314-1219_314-1213del (n.314-1219_314-1213del) c.40_46del n.590_596del n.557_563del | gnomAD v4 |
19 | g.11105346_11105356dup | CA658653700 | LDLR | c.698_708dup (p.Ala237ProfsTer?) c.440_450dup (p.Ala151ProfsTer?) c.694_704dup c.314-2046_314-2036dup (n.314-2046_314-2036dup) c.317_327dup (p.Ala110ProfsTer?) c.314-1219_314-1209dup (n.314-1219_314-1209dup) c.40_50dup n.590_600dup n.557_567dup | ClinVar dbSNP |
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.11105348T>A | CA404076472 | LDLR | c.700T>A (p.Cys234Ser) c.442T>A (p.Cys148Ser) c.696T>A c.314-2044T>A (n.314-2044T>A) c.319T>A (p.Cys107Ser) c.314-1217T>A (n.314-1217T>A) c.42T>A n.592T>A n.559T>A | |
19 | g.11105348T>C | CA10584920 | LDLR | c.700T>C (p.Cys234Arg) c.442T>C (p.Cys148Arg) c.696T>C c.314-2044T>C (n.314-2044T>C) c.319T>C (p.Cys107Arg) c.314-1217T>C (n.314-1217T>C) c.42T>C n.592T>C n.559T>C | ClinVar dbSNP |
19 | g.11105348T>G | CA404076467 | LDLR | c.700T>G (p.Cys234Gly) c.442T>G (p.Cys148Gly) c.696T>G c.314-2044T>G (n.314-2044T>G) c.319T>G (p.Cys107Gly) c.314-1217T>G (n.314-1217T>G) c.42T>G n.592T>G n.559T>G | |
19 | g.11105348T= | CA2322767388 | LDLR | c.700T= (p.Cys234=) c.442T= (p.Cys148=) c.696T= c.314-2044T= (n.314-2044T=) c.319T= (p.Cys107=) c.314-1217T= (n.314-1217T=) c.42T= n.592T= n.559T= | |
19 | g.11105348_11105351dup | CA2573050570 | LDLR | c.700_703dup (p.Gly235ValfsTer?) c.442_445dup (p.Gly149ValfsTer?) c.696_699dup c.314-2044_314-2041dup (n.314-2044_314-2041dup) c.319_322dup (p.Gly108ValfsTer?) c.314-1217_314-1214dup (n.314-1217_314-1214dup) c.42_45dup n.592_595dup n.559_562dup | |
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.11105349G>A | CA10584921 | LDLR | c.701G>A (p.Cys234Tyr) c.443G>A (p.Cys148Tyr) c.697G>A c.314-2043G>A (n.314-2043G>A) c.320G>A (p.Cys107Tyr) c.314-1216G>A (n.314-1216G>A) c.43G>A n.593G>A n.560G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105349G>C | CA10584922 | LDLR | c.701G>C (p.Cys234Ser) c.443G>C (p.Cys148Ser) c.697G>C c.314-2043G>C (n.314-2043G>C) c.320G>C (p.Cys107Ser) c.314-1216G>C (n.314-1216G>C) c.43G>C n.593G>C n.560G>C | ClinVar dbSNP |
19 | g.11105349G= | CA2322767389 | LDLR | c.701G= (p.Cys234=) c.443G= (p.Cys148=) c.697G= c.314-2043G= (n.314-2043G=) c.320G= (p.Cys107=) c.314-1216G= (n.314-1216G=) c.43G= n.593G= n.560G= | |
19 | g.11105349G>T | CA404076476 | LDLR | c.701G>T (p.Cys234Phe) c.443G>T (p.Cys148Phe) c.697G>T c.314-2043G>T (n.314-2043G>T) c.320G>T (p.Cys107Phe) c.314-1216G>T (n.314-1216G>T) c.43G>T n.593G>T n.560G>T | |
19 | g.11105350T>A | CA404076478 | LDLR | c.702T>A (p.Cys234Ter) c.444T>A (p.Cys148Ter) c.698T>A c.314-2042T>A (n.314-2042T>A) c.321T>A (p.Cys107Ter) c.314-1215T>A (n.314-1215T>A) c.44T>A n.594T>A n.561T>A | |
19 | g.11105350T>C | CA505743084 | LDLR | c.702T>C (p.Cys234=) c.444T>C (p.Cys148=) c.698T>C c.314-2042T>C (n.314-2042T>C) c.321T>C (p.Cys107=) c.314-1215T>C (n.314-1215T>C) c.44T>C n.594T>C n.561T>C | |
19 | g.11105350T>G | CA10584923 | LDLR | c.702T>G (p.Cys234Trp) c.444T>G (p.Cys148Trp) c.698T>G c.314-2042T>G (n.314-2042T>G) c.321T>G (p.Cys107Trp) c.314-1215T>G (n.314-1215T>G) c.44T>G n.594T>G n.561T>G | ClinVar dbSNP |
19 | g.11105350T= | CA2322767390 | LDLR | c.702T= (p.Cys234=) c.444T= (p.Cys148=) c.698T= c.314-2042T= (n.314-2042T=) c.321T= (p.Cys107=) c.314-1215T= (n.314-1215T=) c.44T= n.594T= n.561T= | |
19 | g.11105351G>A | CA404076480 | LDLR | c.703G>A (p.Gly235Ser) c.445G>A (p.Gly149Ser) c.699G>A c.314-2041G>A (n.314-2041G>A) c.322G>A (p.Gly108Ser) c.314-1214G>A (n.314-1214G>A) c.45G>A n.595G>A n.562G>A | |
19 | g.11105351G>C | CA404076482 | LDLR | c.703G>C (p.Gly235Arg) c.445G>C (p.Gly149Arg) c.699G>C c.314-2041G>C (n.314-2041G>C) c.322G>C (p.Gly108Arg) c.314-1214G>C (n.314-1214G>C) c.45G>C n.595G>C n.562G>C | ClinVar dbSNP |
19 | g.11105351G= | CA2322767391 | LDLR | c.703G= (p.Gly235=) c.445G= (p.Gly149=) c.699G= c.314-2041G= (n.314-2041G=) c.322G= (p.Gly108=) c.314-1214G= (n.314-1214G=) c.45G= n.595G= n.562G= | |
19 | g.11105351G>T | CA10584924 | LDLR | c.703G>T (p.Gly235Cys) c.445G>T (p.Gly149Cys) c.699G>T c.314-2041G>T (n.314-2041G>T) c.322G>T (p.Gly108Cys) c.314-1214G>T (n.314-1214G>T) c.45G>T n.595G>T n.562G>T | ClinVar dbSNP gnomAD v4 |
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.11105352G>A | CA404076484 | LDLR | c.704G>A (p.Gly235Asp) c.446G>A (p.Gly149Asp) c.700G>A c.314-2040G>A (n.314-2040G>A) c.323G>A (p.Gly108Asp) c.314-1213G>A (n.314-1213G>A) c.46G>A n.596G>A n.563G>A | |
19 | g.11105352G>C | CA404076486 | LDLR | c.704G>C (p.Gly235Ala) c.446G>C (p.Gly149Ala) c.700G>C c.314-2040G>C (n.314-2040G>C) c.323G>C (p.Gly108Ala) c.314-1213G>C (n.314-1213G>C) c.46G>C n.596G>C n.563G>C | |
19 | g.11105352G>T | CA404076485 | LDLR | c.704G>T (p.Gly235Val) c.446G>T (p.Gly149Val) c.700G>T c.314-2040G>T (n.314-2040G>T) c.323G>T (p.Gly108Val) c.314-1213G>T (n.314-1213G>T) c.46G>T n.596G>T n.563G>T | |
19 | g.11105353T>A | CA505743090 | LDLR | c.705T>A (p.Gly235=) c.447T>A (p.Gly149=) c.701T>A c.314-2039T>A (n.314-2039T>A) c.324T>A (p.Gly108=) c.314-1212T>A (n.314-1212T>A) c.47T>A n.597T>A n.564T>A | |
19 | g.11105353T>C | CA043616 | LDLR | c.705T>C (p.Gly235=) c.447T>C (p.Gly149=) c.701T>C c.314-2039T>C (n.314-2039T>C) c.324T>C (p.Gly108=) c.314-1212T>C (n.314-1212T>C) c.47T>C n.597T>C n.564T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105353T>G | CA505743091 | LDLR | c.705T>G (p.Gly235=) c.447T>G (p.Gly149=) c.701T>G c.314-2039T>G (n.314-2039T>G) c.324T>G (p.Gly108=) c.314-1212T>G (n.314-1212T>G) c.47T>G n.597T>G n.564T>G | |
19 | g.11105353T= | CA2322767392 | LDLR | c.705T= (p.Gly235=) c.447T= (p.Gly149=) c.701T= c.314-2039T= (n.314-2039T=) c.324T= (p.Gly108=) c.314-1212T= (n.314-1212T=) c.47T= n.597T= n.564T= | |
19 | g.11105354C>A | CA404076488 | LDLR | c.706C>A (p.Pro236Thr) c.448C>A (p.Pro150Thr) c.702C>A c.314-2038C>A (n.314-2038C>A) c.325C>A (p.Pro109Thr) c.314-1211C>A (n.314-1211C>A) c.48C>A n.598C>A n.565C>A | |
19 | g.11105354C>G | CA404076490 | LDLR | c.706C>G (p.Pro236Ala) c.448C>G (p.Pro150Ala) c.702C>G c.314-2038C>G (n.314-2038C>G) c.325C>G (p.Pro109Ala) c.314-1211C>G (n.314-1211C>G) c.48C>G n.598C>G n.565C>G | |
19 | g.11105354C>T | CA404076492 | LDLR | c.706C>T (p.Pro236Ser) c.448C>T (p.Pro150Ser) c.702C>T c.314-2038C>T (n.314-2038C>T) c.325C>T (p.Pro109Ser) c.314-1211C>T (n.314-1211C>T) c.48C>T n.598C>T n.565C>T | COSMIC |