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 | |
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.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.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.11105352dup | CA2840305517 | LDLR | c.704dup (p.Pro236SerfsTer30) c.446dup (p.Pro150SerfsTer30) c.700dup c.314-2040dup (n.314-2040dup) c.323dup (p.Pro109SerfsTer30) c.314-1213dup (n.314-1213dup) c.46dup n.596dup n.563dup | |
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 |
19 | g.11105356dup | CA10584925 | LDLR | c.708dup (p.Ala237ArgfsTer29) c.450dup (p.Ala151ArgfsTer29) c.704dup c.314-2036dup (n.314-2036dup) c.327dup (p.Ala110ArgfsTer29) c.314-1209dup (n.314-1209dup) c.50dup n.600dup n.567dup | ClinVar dbSNP |
19 | g.11105354_11105357delinsCCCG | CA2322767393 | LDLR | c.706_709delinsCCCG (p.Pro236=) c.448_451delinsCCCG (p.Pro150=) c.702_705delinsCCCG c.314-2038_314-2035delinsCCCG (n.314-2038_314-2035delinsCCCG) c.325_328delinsCCCG (p.Pro109=) c.314-1211_314-1208delinsCCCG (n.314-1211_314-1208delinsCCCG) c.48_51delinsCCCG n.598_601delinsCCCG n.565_568delinsCCCG | |
19 | g.11105355C>A | CA404076494 | LDLR | c.707C>A (p.Pro236His) c.449C>A (p.Pro150His) c.703C>A c.314-2037C>A (n.314-2037C>A) c.326C>A (p.Pro109His) c.314-1210C>A (n.314-1210C>A) c.49C>A n.599C>A n.566C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105355C= | CA2322767394 | LDLR | c.707C= (p.Pro236=) c.449C= (p.Pro150=) c.703C= c.314-2037C= (n.314-2037C=) c.326C= (p.Pro109=) c.314-1210C= (n.314-1210C=) c.49C= n.599C= n.566C= | |
19 | g.11105355C>G | CA404076499 | LDLR | c.707C>G (p.Pro236Arg) c.449C>G (p.Pro150Arg) c.703C>G c.314-2037C>G (n.314-2037C>G) c.326C>G (p.Pro109Arg) c.314-1210C>G (n.314-1210C>G) c.49C>G n.599C>G n.566C>G | |
19 | g.11105355C>T | CA404076497 | LDLR | c.707C>T (p.Pro236Leu) c.449C>T (p.Pro150Leu) c.703C>T c.314-2037C>T (n.314-2037C>T) c.326C>T (p.Pro109Leu) c.314-1210C>T (n.314-1210C>T) c.49C>T n.599C>T n.566C>T | |
19 | g.11105357_11105359del | CA10584927 | LDLR | c.709_711del (p.Ala237del) c.451_453del (p.Ala151del) c.705_707del c.314-2035_314-2033del (n.314-2035_314-2033del) c.328_330del (p.Ala110del) c.314-1208_314-1206del (n.314-1208_314-1206del) c.51_53del n.601_603del n.568_570del | ClinVar dbSNP |
19 | g.11105356C>A | CA505743099 | LDLR | c.708C>A (p.Pro236=) c.450C>A (p.Pro150=) c.704C>A c.314-2036C>A (n.314-2036C>A) c.327C>A (p.Pro109=) c.314-1209C>A (n.314-1209C>A) c.50C>A n.600C>A n.567C>A | |
19 | g.11105356C= | CA2322767395 | LDLR | c.708C= (p.Pro236=) c.450C= (p.Pro150=) c.704C= c.314-2036C= (n.314-2036C=) c.327C= (p.Pro109=) c.314-1209C= (n.314-1209C=) c.50C= n.600C= n.567C= | |
19 | g.11105356C>G | CA505743100 | LDLR | c.708C>G (p.Pro236=) c.450C>G (p.Pro150=) c.704C>G c.314-2036C>G (n.314-2036C>G) c.327C>G (p.Pro109=) c.314-1209C>G (n.314-1209C>G) c.50C>G n.600C>G n.567C>G | |
19 | g.11105356C>T | CA043626 | LDLR | c.708C>T (p.Pro236=) c.450C>T (p.Pro150=) c.704C>T c.314-2036C>T (n.314-2036C>T) c.327C>T (p.Pro109=) c.314-1209C>T (n.314-1209C>T) c.50C>T n.600C>T n.567C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105357G>A | CA10584926 | LDLR | c.709G>A (p.Ala237Thr) c.451G>A (p.Ala151Thr) c.705G>A c.314-2035G>A (n.314-2035G>A) c.328G>A (p.Ala110Thr) c.314-1208G>A (n.314-1208G>A) c.51G>A n.601G>A n.568G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105357G>C | CA043633 | LDLR | c.709G>C (p.Ala237Pro) c.451G>C (p.Ala151Pro) c.705G>C c.314-2035G>C (n.314-2035G>C) c.328G>C (p.Ala110Pro) c.314-1208G>C (n.314-1208G>C) c.51G>C n.601G>C n.568G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105357G= | CA2322767396 | LDLR | c.709G= (p.Ala237=) c.451G= (p.Ala151=) c.705G= c.314-2035G= (n.314-2035G=) c.328G= (p.Ala110=) c.314-1208G= (n.314-1208G=) c.51G= n.601G= n.568G= | |
19 | g.11105357G>T | CA404076505 | LDLR | c.709G>T (p.Ala237Ser) c.451G>T (p.Ala151Ser) c.705G>T c.314-2035G>T (n.314-2035G>T) c.328G>T (p.Ala110Ser) c.314-1208G>T (n.314-1208G>T) c.51G>T n.601G>T n.568G>T | ClinVar gnomAD v4 |
19 | g.11105358C>A | CA404076507 | LDLR | c.710C>A (p.Ala237Asp) c.452C>A (p.Ala151Asp) c.706C>A c.314-2034C>A (n.314-2034C>A) c.329C>A (p.Ala110Asp) c.314-1207C>A (n.314-1207C>A) c.52C>A n.602C>A n.569C>A | |
19 | g.11105358C>G | CA404076509 | LDLR | c.710C>G (p.Ala237Gly) c.452C>G (p.Ala151Gly) c.706C>G c.314-2034C>G (n.314-2034C>G) c.329C>G (p.Ala110Gly) c.314-1207C>G (n.314-1207C>G) c.52C>G n.602C>G n.569C>G | |
19 | g.11105358C>T | CA404076511 | LDLR | c.710C>T (p.Ala237Val) c.452C>T (p.Ala151Val) c.706C>T c.314-2034C>T (n.314-2034C>T) c.329C>T (p.Ala110Val) c.314-1207C>T (n.314-1207C>T) c.52C>T n.602C>T n.569C>T | |
19 | g.11105359C>A | CA505743107 | LDLR | c.711C>A (p.Ala237=) c.453C>A (p.Ala151=) c.707C>A c.314-2033C>A (n.314-2033C>A) c.330C>A (p.Ala110=) c.314-1206C>A (n.314-1206C>A) c.53C>A n.603C>A n.570C>A | |
19 | g.11105359C>G | CA505743106 | LDLR | c.711C>G (p.Ala237=) c.453C>G (p.Ala151=) c.707C>G c.314-2033C>G (n.314-2033C>G) c.330C>G (p.Ala110=) c.314-1206C>G (n.314-1206C>G) c.53C>G n.603C>G n.570C>G | |
19 | g.11105359C>T | CA505743105 | LDLR | c.711C>T (p.Ala237=) c.453C>T (p.Ala151=) c.707C>T c.314-2033C>T (n.314-2033C>T) c.330C>T (p.Ala110=) c.314-1206C>T (n.314-1206C>T) c.53C>T n.603C>T n.570C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105360A>C | CA404076513 | LDLR | c.712A>C (p.Ser238Arg) c.454A>C (p.Ser152Arg) c.708A>C c.314-2032A>C (n.314-2032A>C) c.331A>C (p.Ser111Arg) c.314-1205A>C (n.314-1205A>C) c.54A>C n.604A>C n.571A>C | |
19 | g.11105360A>G | CA404076515 | LDLR | c.712A>G (p.Ser238Gly) c.454A>G (p.Ser152Gly) c.708A>G c.314-2032A>G (n.314-2032A>G) c.331A>G (p.Ser111Gly) c.314-1205A>G (n.314-1205A>G) c.54A>G n.604A>G n.571A>G | ClinVar |
19 | g.11105360A>T | CA404076516 | LDLR | c.712A>T (p.Ser238Cys) c.454A>T (p.Ser152Cys) c.708A>T c.314-2032A>T (n.314-2032A>T) c.331A>T (p.Ser111Cys) c.314-1205A>T (n.314-1205A>T) c.54A>T n.604A>T n.571A>T | |
19 | g.11105360dup | CA2695195460 | LDLR | c.712dup (p.Ser238LysfsTer28) c.454dup (p.Ser152LysfsTer28) c.708dup c.314-2032dup (n.314-2032dup) c.331dup (p.Ser111LysfsTer28) c.314-1205dup (n.314-1205dup) c.54dup n.604dup n.571dup | |
19 | g.11105361del | CA2573050572 | LDLR | c.713del (p.Ser238ThrfsTer?) c.455del (p.Ser152ThrfsTer?) c.709del c.314-2031del (n.314-2031del) c.332del (p.Ser111ThrfsTer?) c.314-1204del (n.314-1204del) c.55del n.605del n.572del | |
19 | g.11105361G>A | CA404076518 | LDLR | c.713G>A (p.Ser238Asn) c.455G>A (p.Ser152Asn) c.709G>A c.314-2031G>A (n.314-2031G>A) c.332G>A (p.Ser111Asn) c.314-1204G>A (n.314-1204G>A) c.55G>A n.605G>A n.572G>A | |
19 | g.11105361G>C | CA404076523 | LDLR | c.713G>C (p.Ser238Thr) c.455G>C (p.Ser152Thr) c.709G>C c.314-2031G>C (n.314-2031G>C) c.332G>C (p.Ser111Thr) c.314-1204G>C (n.314-1204G>C) c.55G>C n.605G>C n.572G>C | gnomAD v4 |
19 | g.11105361G>T | CA404076520 | LDLR | c.713G>T (p.Ser238Ile) c.455G>T (p.Ser152Ile) c.709G>T c.314-2031G>T (n.314-2031G>T) c.332G>T (p.Ser111Ile) c.314-1204G>T (n.314-1204G>T) c.55G>T n.605G>T n.572G>T | |
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.11105362C>A | CA404076530 | LDLR | c.714C>A (p.Ser238Arg) c.456C>A (p.Ser152Arg) c.710C>A c.314-2030C>A (n.314-2030C>A) c.333C>A (p.Ser111Arg) c.314-1203C>A (n.314-1203C>A) c.56C>A n.606C>A n.573C>A | |
19 | g.11105362C= | CA2322767397 | LDLR | c.714C= (p.Ser238=) c.456C= (p.Ser152=) c.710C= c.314-2030C= (n.314-2030C=) c.333C= (p.Ser111=) c.314-1203C= (n.314-1203C=) c.56C= n.606C= n.573C= | |
19 | g.11105362C>G | CA404076532 | LDLR | c.714C>G (p.Ser238Arg) c.456C>G (p.Ser152Arg) c.710C>G c.314-2030C>G (n.314-2030C>G) c.333C>G (p.Ser111Arg) c.314-1203C>G (n.314-1203C>G) c.56C>G n.606C>G n.573C>G | |
19 | g.11105362C>T | CA505743112 | LDLR | c.714C>T (p.Ser238=) c.456C>T (p.Ser152=) c.710C>T c.314-2030C>T (n.314-2030C>T) c.333C>T (p.Ser111=) c.314-1203C>T (n.314-1203C>T) c.56C>T n.606C>T n.573C>T | dbSNP |
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 |
19 | g.11105370G>C | CA404076587 | LDLR | c.722G>C (p.Cys241Ser) c.464G>C (p.Cys155Ser) c.718G>C c.314-2022G>C (n.314-2022G>C) c.341G>C (p.Cys114Ser) c.314-1195G>C (n.314-1195G>C) c.64G>C n.614G>C n.581G>C | |
19 | g.11105370G= | CA2322767404 | LDLR | c.722G= (p.Cys241=) c.464G= (p.Cys155=) c.718G= c.314-2022G= (n.314-2022G=) c.341G= (p.Cys114=) c.314-1195G= (n.314-1195G=) c.64G= n.614G= n.581G= | |
19 | g.11105370G>T | CA10584934 | LDLR | c.722G>T (p.Cys241Phe) c.464G>T (p.Cys155Phe) c.718G>T c.314-2022G>T (n.314-2022G>T) c.341G>T (p.Cys114Phe) c.314-1195G>T (n.314-1195G>T) c.64G>T n.614G>T n.581G>T | ClinVar dbSNP |
19 | g.11105372_11105377del | CA2580096441 | LDLR | c.724_729del (p.Asn242_Ser243del) c.466_471del (p.Asn156_Ser157del) c.720_725del c.314-2020_314-2015del (n.314-2020_314-2015del) c.343_348del (p.Asn115_Ser116del) c.314-1193_314-1188del (n.314-1193_314-1188del) c.66_71del n.616_621del n.583_588del | ClinVar |
19 | g.11105371C>A | CA043661 | LDLR | c.723C>A (p.Cys241Ter) c.465C>A (p.Cys155Ter) c.719C>A c.314-2021C>A (n.314-2021C>A) c.342C>A (p.Cys114Ter) c.314-1194C>A (n.314-1194C>A) c.65C>A n.615C>A n.582C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105371C= | CA2322767405 | LDLR | c.723C= (p.Cys241=) c.465C= (p.Cys155=) c.719C= c.314-2021C= (n.314-2021C=) c.342C= (p.Cys114=) c.314-1194C= (n.314-1194C=) c.65C= n.615C= n.582C= | |
19 | g.11105371C>G | CA404076603 | LDLR | c.723C>G (p.Cys241Trp) c.465C>G (p.Cys155Trp) c.719C>G c.314-2021C>G (n.314-2021C>G) c.342C>G (p.Cys114Trp) c.314-1194C>G (n.314-1194C>G) c.65C>G n.615C>G n.582C>G | |
19 | g.11105371C>T | CA505743132 | LDLR | c.723C>T (p.Cys241=) c.465C>T (p.Cys155=) c.719C>T c.314-2021C>T (n.314-2021C>T) c.342C>T (p.Cys114=) c.314-1194C>T (n.314-1194C>T) c.65C>T n.615C>T n.582C>T | |
19 | g.11105371_11105372delinsCA | CA2322767406 | LDLR | c.723_724delinsCA (p.Cys241=) c.465_466delinsCA (p.Cys155=) c.719_720delinsCA c.314-2021_314-2020delinsCA (n.314-2021_314-2020delinsCA) c.342_343delinsCA (p.Cys114=) c.314-1194_314-1193delinsCA (n.314-1194_314-1193delinsCA) c.65_66delinsCA n.615_616delinsCA n.582_583delinsCA | |
19 | g.11105372_11105390dup | CA10584935 | LDLR | c.724_742dup (p.Pro248GlnfsTer24) c.466_484dup (p.Pro162GlnfsTer24) c.720_738dup c.314-2020_314-2002dup (n.314-2020_314-2002dup) c.343_361dup (p.Pro121GlnfsTer24) c.314-1193_314-1175dup (n.314-1193_314-1175dup) c.66_84dup n.616_634dup n.583_601dup | ClinVar dbSNP |
19 | g.11105372A>C | CA404076613 | LDLR | c.724A>C (p.Asn242His) c.466A>C (p.Asn156His) c.720A>C c.314-2020A>C (n.314-2020A>C) c.343A>C (p.Asn115His) c.314-1193A>C (n.314-1193A>C) c.66A>C n.616A>C n.583A>C | |
19 | g.11105372A>G | CA404076612 | LDLR | c.724A>G (p.Asn242Asp) c.466A>G (p.Asn156Asp) c.720A>G c.314-2020A>G (n.314-2020A>G) c.343A>G (p.Asn115Asp) c.314-1193A>G (n.314-1193A>G) c.66A>G n.616A>G n.583A>G | |
19 | g.11105372A>T | CA404076617 | LDLR | c.724A>T (p.Asn242Tyr) c.466A>T (p.Asn156Tyr) c.720A>T c.314-2020A>T (n.314-2020A>T) c.343A>T (p.Asn115Tyr) c.314-1193A>T (n.314-1193A>T) c.66A>T n.616A>T n.583A>T | |
19 | g.11105373del | CA10654845 | LDLR | c.725del (p.Asn242ThrfsTer?) c.467del (p.Asn156ThrfsTer?) c.721del c.314-2019del (n.314-2019del) c.344del (p.Asn115ThrfsTer?) c.314-1192del (n.314-1192del) c.67del n.617del n.584del | ClinVar dbSNP |
19 | g.11105372_11105374delinsGA | CA2497030117 | LDLR | c.724_726delinsGA (p.Asn242GlufsTer?) c.466_468delinsGA (p.Asn156GlufsTer?) c.720_722delinsGA c.314-2020_314-2018delinsGA (n.314-2020_314-2018delinsGA) c.343_345delinsGA (p.Asn115GlufsTer?) c.314-1193_314-1191delinsGA (n.314-1193_314-1191delinsGA) c.66_68delinsGA n.616_618delinsGA n.583_585delinsGA | |
19 | g.11105373A>C | CA404076620 | LDLR | c.725A>C (p.Asn242Thr) c.467A>C (p.Asn156Thr) c.721A>C c.314-2019A>C (n.314-2019A>C) c.344A>C (p.Asn115Thr) c.314-1192A>C (n.314-1192A>C) c.67A>C n.617A>C n.584A>C | |
19 | g.11105373A>G | CA404076624 | LDLR | c.725A>G (p.Asn242Ser) c.467A>G (p.Asn156Ser) c.721A>G c.314-2019A>G (n.314-2019A>G) c.344A>G (p.Asn115Ser) c.314-1192A>G (n.314-1192A>G) c.67A>G n.617A>G n.584A>G | |
19 | g.11105373A>T | CA404076627 | LDLR | c.725A>T (p.Asn242Ile) c.467A>T (p.Asn156Ile) c.721A>T c.314-2019A>T (n.314-2019A>T) c.344A>T (p.Asn115Ile) c.314-1192A>T (n.314-1192A>T) c.67A>T n.617A>T n.584A>T | |
19 | g.11105374C>A | CA404076630 | LDLR | c.726C>A (p.Asn242Lys) c.468C>A (p.Asn156Lys) c.722C>A c.314-2018C>A (n.314-2018C>A) c.345C>A (p.Asn115Lys) c.314-1191C>A (n.314-1191C>A) c.68C>A n.618C>A n.585C>A | |
19 | g.11105374C= | CA2322767407 | LDLR | c.726C= (p.Asn242=) c.468C= (p.Asn156=) c.722C= c.314-2018C= (n.314-2018C=) c.345C= (p.Asn115=) c.314-1191C= (n.314-1191C=) c.68C= n.618C= n.585C= | |
19 | g.11105374C>G | CA404076631 | LDLR | c.726C>G (p.Asn242Lys) c.468C>G (p.Asn156Lys) c.722C>G c.314-2018C>G (n.314-2018C>G) c.345C>G (p.Asn115Lys) c.314-1191C>G (n.314-1191C>G) c.68C>G n.618C>G n.585C>G | |
19 | g.11105374C>T | CA505743139 | LDLR | c.726C>T (p.Asn242=) c.468C>T (p.Asn156=) c.722C>T c.314-2018C>T (n.314-2018C>T) c.345C>T (p.Asn115=) c.314-1191C>T (n.314-1191C>T) c.68C>T n.618C>T n.585C>T | |
19 | g.11105375A>C | CA404076636 | LDLR | c.727A>C (p.Ser243Arg) c.469A>C (p.Ser157Arg) c.723A>C c.314-2017A>C (n.314-2017A>C) c.346A>C (p.Ser116Arg) c.314-1190A>C (n.314-1190A>C) c.69A>C n.619A>C n.586A>C | |
19 | g.11105375A>G | CA404076632 | LDLR | c.727A>G (p.Ser243Gly) c.469A>G (p.Ser157Gly) c.723A>G c.314-2017A>G (n.314-2017A>G) c.346A>G (p.Ser116Gly) c.314-1190A>G (n.314-1190A>G) c.69A>G n.619A>G n.586A>G | |
19 | g.11105375A>T | CA404076634 | LDLR | c.727A>T (p.Ser243Cys) c.469A>T (p.Ser157Cys) c.723A>T c.314-2017A>T (n.314-2017A>T) c.346A>T (p.Ser116Cys) c.314-1190A>T (n.314-1190A>T) c.69A>T n.619A>T n.586A>T | |
19 | g.11105375_11105376dup | CA916081227 | LDLR | c.727_728dup (p.Ser243ArgfsTer?) c.469_470dup (p.Ser157ArgfsTer?) c.723_724dup c.314-2017_314-2016dup (n.314-2017_314-2016dup) c.346_347dup (p.Ser116ArgfsTer?) c.314-1190_314-1189dup (n.314-1190_314-1189dup) c.69_70dup n.619_620dup n.586_587dup | ClinVar dbSNP |
19 | g.11105376G>A | CA404076641 | LDLR | c.728G>A (p.Ser243Asn) c.470G>A (p.Ser157Asn) c.724G>A c.314-2016G>A (n.314-2016G>A) c.347G>A (p.Ser116Asn) c.314-1189G>A (n.314-1189G>A) c.70G>A n.620G>A n.587G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105376G>C | CA404076643 | LDLR | c.728G>C (p.Ser243Thr) c.470G>C (p.Ser157Thr) c.724G>C c.314-2016G>C (n.314-2016G>C) c.347G>C (p.Ser116Thr) c.314-1189G>C (n.314-1189G>C) c.70G>C n.620G>C n.587G>C | |
19 | g.11105376G= | CA2322767408 | LDLR | c.728G= (p.Ser243=) c.470G= (p.Ser157=) c.724G= c.314-2016G= (n.314-2016G=) c.347G= (p.Ser116=) c.314-1189G= (n.314-1189G=) c.70G= n.620G= n.587G= | |
19 | g.11105376G>T | CA404076645 | LDLR | c.728G>T (p.Ser243Ile) c.470G>T (p.Ser157Ile) c.724G>T c.314-2016G>T (n.314-2016G>T) c.347G>T (p.Ser116Ile) c.314-1189G>T (n.314-1189G>T) c.70G>T n.620G>T n.587G>T | |
19 | g.11105377C>A | CA404076648 | LDLR | c.729C>A (p.Ser243Arg) c.471C>A (p.Ser157Arg) c.725C>A c.314-2015C>A (n.314-2015C>A) c.348C>A (p.Ser116Arg) c.314-1188C>A (n.314-1188C>A) c.71C>A n.621C>A n.588C>A | |
19 | g.11105377C>G | CA404076651 | LDLR | c.729C>G (p.Ser243Arg) c.471C>G (p.Ser157Arg) c.725C>G c.314-2015C>G (n.314-2015C>G) c.348C>G (p.Ser116Arg) c.314-1188C>G (n.314-1188C>G) c.71C>G n.621C>G n.588C>G | |
19 | g.11105377C>T | CA505743143 | LDLR | c.729C>T (p.Ser243=) c.471C>T (p.Ser157=) c.725C>T c.314-2015C>T (n.314-2015C>T) c.348C>T (p.Ser116=) c.314-1188C>T (n.314-1188C>T) c.71C>T n.621C>T n.588C>T | |
19 | g.11105377_11105378delinsCT | CA2322767409 | LDLR | c.729_730delinsCT (p.Ser243=) c.471_472delinsCT (p.Ser157=) c.725_726delinsCT c.314-2015_314-2014delinsCT (n.314-2015_314-2014delinsCT) c.348_349delinsCT (p.Ser116=) c.314-1188_314-1187delinsCT (n.314-1188_314-1187delinsCT) c.71_72delinsCT n.621_622delinsCT n.588_589delinsCT | |
19 | g.11105378del | CA10584936 | LDLR | c.730del (p.Ser244ProfsTer?) c.472del (p.Ser158ProfsTer?) c.726del c.314-2014del (n.314-2014del) c.349del (p.Ser117ProfsTer?) c.314-1187del (n.314-1187del) c.72del n.622del n.589del | ClinVar dbSNP |
19 | g.11105378T>A | CA404076663 | LDLR | c.730T>A (p.Ser244Thr) c.472T>A (p.Ser158Thr) c.726T>A c.314-2014T>A (n.314-2014T>A) c.349T>A (p.Ser117Thr) c.314-1187T>A (n.314-1187T>A) c.72T>A n.622T>A n.589T>A | |
19 | g.11105378T>C | CA404076656 | LDLR | c.730T>C (p.Ser244Pro) c.472T>C (p.Ser158Pro) c.726T>C c.314-2014T>C (n.314-2014T>C) c.349T>C (p.Ser117Pro) c.314-1187T>C (n.314-1187T>C) c.72T>C n.622T>C n.589T>C | |
19 | g.11105378T>G | CA404076660 | LDLR | c.730T>G (p.Ser244Ala) c.472T>G (p.Ser158Ala) c.726T>G c.314-2014T>G (n.314-2014T>G) c.349T>G (p.Ser117Ala) c.314-1187T>G (n.314-1187T>G) c.72T>G n.622T>G n.589T>G | |
19 | g.11105379C>A | CA404076667 | LDLR | c.731C>A (p.Ser244Tyr) c.473C>A (p.Ser158Tyr) c.727C>A c.314-2013C>A (n.314-2013C>A) c.350C>A (p.Ser117Tyr) c.314-1186C>A (n.314-1186C>A) c.73C>A n.623C>A n.590C>A | |
19 | g.11105379C= | CA2322767410 | LDLR | c.731C= (p.Ser244=) c.473C= (p.Ser158=) c.727C= c.314-2013C= (n.314-2013C=) c.350C= (p.Ser117=) c.314-1186C= (n.314-1186C=) c.73C= n.623C= n.590C= | |
19 | g.11105379C>G | CA10584937 | LDLR | c.731C>G (p.Ser244Cys) c.473C>G (p.Ser158Cys) c.727C>G c.314-2013C>G (n.314-2013C>G) c.350C>G (p.Ser117Cys) c.314-1186C>G (n.314-1186C>G) c.73C>G n.623C>G n.590C>G | ClinVar dbSNP |
19 | g.11105379C>T | CA305296813 | LDLR | c.731C>T (p.Ser244Phe) c.473C>T (p.Ser158Phe) c.727C>T c.314-2013C>T (n.314-2013C>T) c.350C>T (p.Ser117Phe) c.314-1186C>T (n.314-1186C>T) c.73C>T n.623C>T n.590C>T | dbSNP gnomAD v4 |
19 | g.11105380C>A | CA505743148 | LDLR | c.732C>A (p.Ser244=) c.474C>A (p.Ser158=) c.728C>A c.314-2012C>A (n.314-2012C>A) c.351C>A (p.Ser117=) c.314-1185C>A (n.314-1185C>A) c.74C>A n.624C>A n.591C>A | |
19 | g.11105380C>G | CA505743150 | LDLR | c.732C>G (p.Ser244=) c.474C>G (p.Ser158=) c.728C>G c.314-2012C>G (n.314-2012C>G) c.351C>G (p.Ser117=) c.314-1185C>G (n.314-1185C>G) c.74C>G n.624C>G n.591C>G | |
19 | g.11105380C>T | CA505743151 | LDLR | c.732C>T (p.Ser244=) c.474C>T (p.Ser158=) c.728C>T c.314-2012C>T (n.314-2012C>T) c.351C>T (p.Ser117=) c.314-1185C>T (n.314-1185C>T) c.74C>T n.624C>T n.591C>T | ClinVar dbSNP |
19 | g.11105381A= | CA2322767411 | LDLR | c.733A= (p.Thr245=) c.475A= (p.Thr159=) c.729A= c.314-2011A= (n.314-2011A=) c.352A= (p.Thr118=) c.314-1184A= (n.314-1184A=) c.75A= n.625A= n.592A= | |
19 | g.11105381A>C | CA404076678 | LDLR | c.733A>C (p.Thr245Pro) c.475A>C (p.Thr159Pro) c.729A>C c.314-2011A>C (n.314-2011A>C) c.352A>C (p.Thr118Pro) c.314-1184A>C (n.314-1184A>C) c.75A>C n.625A>C n.592A>C | |
19 | g.11105381A>G | CA404076681 | LDLR | c.733A>G (p.Thr245Ala) c.475A>G (p.Thr159Ala) c.729A>G c.314-2011A>G (n.314-2011A>G) c.352A>G (p.Thr118Ala) c.314-1184A>G (n.314-1184A>G) c.75A>G n.625A>G n.592A>G | |
19 | g.11105381A>T | CA404076684 | LDLR | c.733A>T (p.Thr245Ser) c.475A>T (p.Thr159Ser) c.729A>T c.314-2011A>T (n.314-2011A>T) c.352A>T (p.Thr118Ser) c.314-1184A>T (n.314-1184A>T) c.75A>T n.625A>T n.592A>T | dbSNP |
19 | g.11105382C>A | CA404076688 | LDLR | c.734C>A (p.Thr245Asn) c.476C>A (p.Thr159Asn) c.730C>A c.314-2010C>A (n.314-2010C>A) c.353C>A (p.Thr118Asn) c.314-1183C>A (n.314-1183C>A) c.76C>A n.626C>A n.593C>A | gnomAD v4 |
19 | g.11105382C= | CA2322767412 | LDLR | c.734C= (p.Thr245=) c.476C= (p.Thr159=) c.730C= c.314-2010C= (n.314-2010C=) c.353C= (p.Thr118=) c.314-1183C= (n.314-1183C=) c.76C= n.626C= n.593C= | |
19 | g.11105382C>G | CA404076692 | LDLR | c.734C>G (p.Thr245Ser) c.476C>G (p.Thr159Ser) c.730C>G c.314-2010C>G (n.314-2010C>G) c.353C>G (p.Thr118Ser) c.314-1183C>G (n.314-1183C>G) c.76C>G n.626C>G n.593C>G | |
19 | g.11105382C>T | CA10584938 | LDLR | c.734C>T (p.Thr245Ile) c.476C>T (p.Thr159Ile) c.730C>T c.314-2010C>T (n.314-2010C>T) c.353C>T (p.Thr118Ile) c.314-1183C>T (n.314-1183C>T) c.76C>T n.626C>T n.593C>T | ClinVar dbSNP |
19 | g.11105384_11105392del | CA2497030118 | LDLR | c.736_744del (p.Cys246_Pro248del) c.478_486del (p.Cys160_Pro162del) c.732_740del c.314-2008_314-2000del (n.314-2008_314-2000del) c.355_363del (p.Cys119_Pro121del) c.314-1181_314-1173del (n.314-1181_314-1173del) c.78_86del n.628_636del n.595_603del | |
19 | g.11105383C>A | CA505743155 | LDLR | c.735C>A (p.Thr245=) c.477C>A (p.Thr159=) c.731C>A c.314-2009C>A (n.314-2009C>A) c.354C>A (p.Thr118=) c.314-1182C>A (n.314-1182C>A) c.77C>A n.627C>A n.594C>A | ClinVar dbSNP |
19 | g.11105383C= | CA2322767413 | LDLR | c.735C= (p.Thr245=) c.477C= (p.Thr159=) c.731C= c.314-2009C= (n.314-2009C=) c.354C= (p.Thr118=) c.314-1182C= (n.314-1182C=) c.77C= n.627C= n.594C= | |
19 | g.11105383C>G | CA505743156 | LDLR | c.735C>G (p.Thr245=) c.477C>G (p.Thr159=) c.731C>G c.314-2009C>G (n.314-2009C>G) c.354C>G (p.Thr118=) c.314-1182C>G (n.314-1182C>G) c.77C>G n.627C>G n.594C>G | ClinVar |
19 | g.11105383C>T | CA505743157 | LDLR | c.735C>T (p.Thr245=) c.477C>T (p.Thr159=) c.731C>T c.314-2009C>T (n.314-2009C>T) c.354C>T (p.Thr118=) c.314-1182C>T (n.314-1182C>T) c.77C>T n.627C>T n.594C>T | ClinVar dbSNP |
19 | g.11105386_11105398del | CA2697556252 | LDLR | c.738_750del (p.Ile247GlyfsTer?) c.480_492del (p.Ile161GlyfsTer?) c.734_746del c.314-2006_314-1994del (n.314-2006_314-1994del) c.357_369del (p.Ile120GlyfsTer?) c.314-1179_314-1167del (n.314-1179_314-1167del) c.80_92del n.630_642del n.597_609del | ClinVar |
19 | g.11105384T>A | CA404076699 | LDLR | c.736T>A (p.Cys246Ser) c.478T>A (p.Cys160Ser) c.732T>A c.314-2008T>A (n.314-2008T>A) c.355T>A (p.Cys119Ser) c.314-1181T>A (n.314-1181T>A) c.78T>A n.628T>A n.595T>A | ClinVar dbSNP |
19 | g.11105384T>C | CA10584939 | LDLR | c.736T>C (p.Cys246Arg) c.478T>C (p.Cys160Arg) c.732T>C c.314-2008T>C (n.314-2008T>C) c.355T>C (p.Cys119Arg) c.314-1181T>C (n.314-1181T>C) c.78T>C n.628T>C n.595T>C | ClinVar dbSNP |
19 | g.11105384T>G | CA10584940 | LDLR | c.736T>G (p.Cys246Gly) c.478T>G (p.Cys160Gly) c.732T>G c.314-2008T>G (n.314-2008T>G) c.355T>G (p.Cys119Gly) c.314-1181T>G (n.314-1181T>G) c.78T>G n.628T>G n.595T>G | ClinVar dbSNP |
19 | g.11105384T= | CA2322767414 | LDLR | c.736T= (p.Cys246=) c.478T= (p.Cys160=) c.732T= c.314-2008T= (n.314-2008T=) c.355T= (p.Cys119=) c.314-1181T= (n.314-1181T=) c.78T= n.628T= n.595T= | |
19 | g.11105385G>A | CA10584941 | LDLR | c.737G>A (p.Cys246Tyr) c.479G>A (p.Cys160Tyr) c.733G>A c.314-2007G>A (n.314-2007G>A) c.356G>A (p.Cys119Tyr) c.314-1180G>A (n.314-1180G>A) c.79G>A n.629G>A n.596G>A | ClinVar dbSNP |
19 | g.11105385G>C | CA404076709 | LDLR | c.737G>C (p.Cys246Ser) c.479G>C (p.Cys160Ser) c.733G>C c.314-2007G>C (n.314-2007G>C) c.356G>C (p.Cys119Ser) c.314-1180G>C (n.314-1180G>C) c.79G>C n.629G>C n.596G>C | ClinVar |
19 | g.11105385G= | CA2322767415 | LDLR | c.737G= (p.Cys246=) c.479G= (p.Cys160=) c.733G= c.314-2007G= (n.314-2007G=) c.356G= (p.Cys119=) c.314-1180G= (n.314-1180G=) c.79G= n.629G= n.596G= | |
19 | g.11105385G>T | CA404076712 | LDLR | c.737G>T (p.Cys246Phe) c.479G>T (p.Cys160Phe) c.733G>T c.314-2007G>T (n.314-2007G>T) c.356G>T (p.Cys119Phe) c.314-1180G>T (n.314-1180G>T) c.79G>T n.629G>T n.596G>T | ClinVar dbSNP |
19 | g.11105385_11105386delinsGC | CA2322767416 | LDLR | c.737_738delinsGC (p.Cys246=) c.479_480delinsGC (p.Cys160=) c.733_734delinsGC c.314-2007_314-2006delinsGC (n.314-2007_314-2006delinsGC) c.356_357delinsGC (p.Cys119=) c.314-1180_314-1179delinsGC (n.314-1180_314-1179delinsGC) c.79_80delinsGC n.629_630delinsGC n.596_597delinsGC | |
19 | g.11105385_11105386delinsTT | CA645373224 | LDLR | c.737_738delinsTT (p.Cys246Phe) c.479_480delinsTT (p.Cys160Phe) c.733_734delinsTT c.314-2007_314-2006delinsTT (n.314-2007_314-2006delinsTT) c.356_357delinsTT (p.Cys119Phe) c.314-1180_314-1179delinsTT (n.314-1180_314-1179delinsTT) c.79_80delinsTT n.629_630delinsTT n.596_597delinsTT | ClinVar dbSNP |
19 | g.11105385_11105392delinsGCATCCCC | CA2322767417 | LDLR | c.737_744delinsGCATCCCC (p.Cys246=) c.479_486delinsGCATCCCC (p.Cys160=) c.733_740delinsGCATCCCC c.314-2007_314-2000delinsGCATCCCC (n.314-2007_314-2000delinsGCATCCCC) c.356_363delinsGCATCCCC (p.Cys119=) c.314-1180_314-1173delinsGCATCCCC (n.314-1180_314-1173delinsGCATCCCC) c.79_86delinsGCATCCCC n.629_636delinsGCATCCCC n.596_603delinsGCATCCCC | |
19 | g.11105386C>A | CA404076719 | LDLR | c.738C>A (p.Cys246Ter) c.480C>A (p.Cys160Ter) c.734C>A c.314-2006C>A (n.314-2006C>A) c.357C>A (p.Cys119Ter) c.314-1179C>A (n.314-1179C>A) c.80C>A n.630C>A n.597C>A | |
19 | g.11105386C= | CA2322767418 | LDLR | c.738C= (p.Cys246=) c.480C= (p.Cys160=) c.734C= c.314-2006C= (n.314-2006C=) c.357C= (p.Cys119=) c.314-1179C= (n.314-1179C=) c.80C= n.630C= n.597C= | |
19 | g.11105386C>G | CA404076721 | LDLR | c.738C>G (p.Cys246Trp) c.480C>G (p.Cys160Trp) c.734C>G c.314-2006C>G (n.314-2006C>G) c.357C>G (p.Cys119Trp) c.314-1179C>G (n.314-1179C>G) c.80C>G n.630C>G n.597C>G | |
19 | g.11105386C>T | CA043673 | LDLR | c.738C>T (p.Cys246=) c.480C>T (p.Cys160=) c.734C>T c.314-2006C>T (n.314-2006C>T) c.357C>T (p.Cys119=) c.314-1179C>T (n.314-1179C>T) c.80C>T n.630C>T n.597C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105388_11105394del | CA10584942 | LDLR | c.740_746del (p.Ile247SerfsTer?) c.482_488del (p.Ile161SerfsTer?) c.736_742del c.314-2004_314-1998del (n.314-2004_314-1998del) c.359_365del (p.Ile120SerfsTer?) c.314-1177_314-1171del (n.314-1177_314-1171del) c.82_88del n.632_638del n.599_605del | ClinVar dbSNP |
19 | g.11105387A>C | CA404076730 | LDLR | c.739A>C (p.Ile247Leu) c.481A>C (p.Ile161Leu) c.735A>C c.314-2005A>C (n.314-2005A>C) c.358A>C (p.Ile120Leu) c.314-1178A>C (n.314-1178A>C) c.81A>C n.631A>C n.598A>C | gnomAD v4 |
19 | g.11105387A>G | CA404076732 | LDLR | c.739A>G (p.Ile247Val) c.481A>G (p.Ile161Val) c.735A>G c.314-2005A>G (n.314-2005A>G) c.358A>G (p.Ile120Val) c.314-1178A>G (n.314-1178A>G) c.81A>G n.631A>G n.598A>G | |
19 | g.11105387A>T | CA404076735 | LDLR | c.739A>T (p.Ile247Phe) c.481A>T (p.Ile161Phe) c.735A>T c.314-2005A>T (n.314-2005A>T) c.358A>T (p.Ile120Phe) c.314-1178A>T (n.314-1178A>T) c.81A>T n.631A>T n.598A>T | |
19 | g.11105387_11105388insGACAGC | CA2825002698 | LDLR | c.739_740insGACAGC (p.Ile247delinsArgGlnLeu) c.481_482insGACAGC (p.Ile161delinsArgGlnLeu) c.735_736insGACAGC c.314-2005_314-2004insGACAGC (n.314-2005_314-2004insGACAGC) c.358_359insGACAGC (p.Ile120delinsArgGlnLeu) c.314-1178_314-1177insGACAGC (n.314-1178_314-1177insGACAGC) c.81_82insGACAGC n.631_632insGACAGC n.598_599insGACAGC | ClinVar |
19 | g.11105388T>A | CA043692 | LDLR | c.740T>A (p.Ile247Asn) c.482T>A (p.Ile161Asn) c.736T>A c.314-2004T>A (n.314-2004T>A) c.359T>A (p.Ile120Asn) c.314-1177T>A (n.314-1177T>A) c.82T>A n.632T>A n.599T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105388T>C | CA404076738 | LDLR | c.740T>C (p.Ile247Thr) c.482T>C (p.Ile161Thr) c.736T>C c.314-2004T>C (n.314-2004T>C) c.359T>C (p.Ile120Thr) c.314-1177T>C (n.314-1177T>C) c.82T>C n.632T>C n.599T>C | ClinVar dbSNP |
19 | g.11105388T>G | CA404076740 | LDLR | c.740T>G (p.Ile247Ser) c.482T>G (p.Ile161Ser) c.736T>G c.314-2004T>G (n.314-2004T>G) c.359T>G (p.Ile120Ser) c.314-1177T>G (n.314-1177T>G) c.82T>G n.632T>G n.599T>G | |
19 | g.11105388T= | CA2322767419 | LDLR | c.740T= (p.Ile247=) c.482T= (p.Ile161=) c.736T= c.314-2004T= (n.314-2004T=) c.359T= (p.Ile120=) c.314-1177T= (n.314-1177T=) c.82T= n.632T= n.599T= | |
19 | g.11105389C>A | CA305296819 | LDLR | c.741C>A (p.Ile247=) c.483C>A (p.Ile161=) c.737C>A c.314-2003C>A (n.314-2003C>A) c.360C>A (p.Ile120=) c.314-1176C>A (n.314-1176C>A) c.83C>A n.633C>A n.600C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105389C= | CA2322767420 | LDLR | c.741C= (p.Ile247=) c.483C= (p.Ile161=) c.737C= c.314-2003C= (n.314-2003C=) c.360C= (p.Ile120=) c.314-1176C= (n.314-1176C=) c.83C= n.633C= n.600C= | |
19 | g.11105389C>G | CA404076743 | LDLR | c.741C>G (p.Ile247Met) c.483C>G (p.Ile161Met) c.737C>G c.314-2003C>G (n.314-2003C>G) c.360C>G (p.Ile120Met) c.314-1176C>G (n.314-1176C>G) c.83C>G n.633C>G n.600C>G | |
19 | g.11105389C>T | CA505743163 | LDLR | c.741C>T (p.Ile247=) c.483C>T (p.Ile161=) c.737C>T c.314-2003C>T (n.314-2003C>T) c.360C>T (p.Ile120=) c.314-1176C>T (n.314-1176C>T) c.83C>T n.633C>T n.600C>T | ClinVar |
19 | g.11105393dup | CA2839077033 | LDLR | c.745dup (p.Gln249ProfsTer17) c.487dup (p.Gln163ProfsTer17) c.741dup c.314-1999dup (n.314-1999dup) c.364dup (p.Gln122ProfsTer17) c.314-1172dup (n.314-1172dup) c.87dup n.637dup n.604dup | |
19 | g.11105393del | CA645617878 | LDLR | c.745del (p.Gln249SerfsTer?) c.487del (p.Gln163SerfsTer?) c.741del c.314-1999del (n.314-1999del) c.364del (p.Gln122SerfsTer?) c.314-1172del (n.314-1172del) c.87del n.637del n.604del | COSMIC |
19 | g.11105390_11105396del | CA2573050573 | LDLR | c.742_748del (p.Pro248CysfsTer?) c.484_490del (p.Pro162CysfsTer?) c.738_744del c.314-2002_314-1996del (n.314-2002_314-1996del) c.361_367del (p.Pro121CysfsTer?) c.314-1175_314-1169del (n.314-1175_314-1169del) c.84_90del n.634_640del n.601_607del | |
19 | g.11105390C>A | CA404076745 | LDLR | c.742C>A (p.Pro248Thr) c.484C>A (p.Pro162Thr) c.738C>A c.314-2002C>A (n.314-2002C>A) c.361C>A (p.Pro121Thr) c.314-1175C>A (n.314-1175C>A) c.84C>A n.634C>A n.601C>A | |
19 | g.11105390C= | CA2322767421 | LDLR | c.742C= (p.Pro248=) c.484C= (p.Pro162=) c.738C= c.314-2002C= (n.314-2002C=) c.361C= (p.Pro121=) c.314-1175C= (n.314-1175C=) c.84C= n.634C= n.601C= | |
19 | g.11105390C>G | CA404076748 | LDLR | c.742C>G (p.Pro248Ala) c.484C>G (p.Pro162Ala) c.738C>G c.314-2002C>G (n.314-2002C>G) c.361C>G (p.Pro121Ala) c.314-1175C>G (n.314-1175C>G) c.84C>G n.634C>G n.601C>G | |
19 | g.11105390C>T | CA404076751 | LDLR | c.742C>T (p.Pro248Ser) c.484C>T (p.Pro162Ser) c.738C>T c.314-2002C>T (n.314-2002C>T) c.361C>T (p.Pro121Ser) c.314-1175C>T (n.314-1175C>T) c.84C>T n.634C>T n.601C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105391_11105392insAACAGCTCCACCTGCATCC | CA2573050574 | LDLR | c.743_744insAACAGCTCCACCTGCATCC (p.Gln249ThrfsTer23) c.485_486insAACAGCTCCACCTGCATCC (p.Gln163ThrfsTer23) c.739_740insAACAGCTCCACCTGCATCC c.314-2001_314-2000insAACAGCTCCACCTGCATCC (n.314-2001_314-2000insAACAGCTCCACCTGCATCC) c.362_363insAACAGCTCCACCTGCATCC (p.Gln122ThrfsTer23) c.314-1174_314-1173insAACAGCTCCACCTGCATCC (n.314-1174_314-1173insAACAGCTCCACCTGCATCC) c.85_86insAACAGCTCCACCTGCATCC n.635_636insAACAGCTCCACCTGCATCC n.602_603insAACAGCTCCACCTGCATCC | |
19 | g.11105391C>A | CA404076758 | LDLR | c.743C>A (p.Pro248His) c.485C>A (p.Pro162His) c.739C>A c.314-2001C>A (n.314-2001C>A) c.362C>A (p.Pro121His) c.314-1174C>A (n.314-1174C>A) c.85C>A n.635C>A n.602C>A | ClinVar |
19 | g.11105391C= | CA2322767422 | LDLR | c.743C= (p.Pro248=) c.485C= (p.Pro162=) c.739C= c.314-2001C= (n.314-2001C=) c.362C= (p.Pro121=) c.314-1174C= (n.314-1174C=) c.85C= n.635C= n.602C= | |
19 | g.11105391C>G | CA404076755 | LDLR | c.743C>G (p.Pro248Arg) c.485C>G (p.Pro162Arg) c.739C>G c.314-2001C>G (n.314-2001C>G) c.362C>G (p.Pro121Arg) c.314-1174C>G (n.314-1174C>G) c.85C>G n.635C>G n.602C>G | |
19 | g.11105391C>T | CA10584943 | LDLR | c.743C>T (p.Pro248Leu) c.485C>T (p.Pro162Leu) c.739C>T c.314-2001C>T (n.314-2001C>T) c.362C>T (p.Pro121Leu) c.314-1174C>T (n.314-1174C>T) c.85C>T n.635C>T n.602C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105392C>A | CA505743167 | LDLR | c.744C>A (p.Pro248=) c.486C>A (p.Pro162=) c.740C>A c.314-2000C>A (n.314-2000C>A) c.363C>A (p.Pro121=) c.314-1173C>A (n.314-1173C>A) c.86C>A n.636C>A n.603C>A | |
19 | g.11105392C>G | CA505743170 | LDLR | c.744C>G (p.Pro248=) c.486C>G (p.Pro162=) c.740C>G c.314-2000C>G (n.314-2000C>G) c.363C>G (p.Pro121=) c.314-1173C>G (n.314-1173C>G) c.86C>G n.636C>G n.603C>G | |
19 | g.11105392C>T | CA505743168 | LDLR | c.744C>T (p.Pro248=) c.486C>T (p.Pro162=) c.740C>T c.314-2000C>T (n.314-2000C>T) c.363C>T (p.Pro121=) c.314-1173C>T (n.314-1173C>T) c.86C>T n.636C>T n.603C>T | |
19 | g.11105393C>A | CA404076759 | LDLR | c.745C>A (p.Gln249Lys) c.487C>A (p.Gln163Lys) c.741C>A c.314-1999C>A (n.314-1999C>A) c.364C>A (p.Gln122Lys) c.314-1172C>A (n.314-1172C>A) c.87C>A n.637C>A n.604C>A | |
19 | g.11105393C= | CA2322767423 | LDLR | c.745C= (p.Gln249=) c.487C= (p.Gln163=) c.741C= c.314-1999C= (n.314-1999C=) c.364C= (p.Gln122=) c.314-1172C= (n.314-1172C=) c.87C= n.637C= n.604C= | |
19 | g.11105393C>G | CA404076760 | LDLR | c.745C>G (p.Gln249Glu) c.487C>G (p.Gln163Glu) c.741C>G c.314-1999C>G (n.314-1999C>G) c.364C>G (p.Gln122Glu) c.314-1172C>G (n.314-1172C>G) c.87C>G n.637C>G n.604C>G | |
19 | g.11105393C>T | CA404076762 | LDLR | c.745C>T (p.Gln249Ter) c.487C>T (p.Gln163Ter) c.741C>T c.314-1999C>T (n.314-1999C>T) c.364C>T (p.Gln122Ter) c.314-1172C>T (n.314-1172C>T) c.87C>T n.637C>T n.604C>T | ClinVar dbSNP |
19 | g.11105394A>C | CA404076764 | LDLR | c.746A>C (p.Gln249Pro) c.488A>C (p.Gln163Pro) c.742A>C c.314-1998A>C (n.314-1998A>C) c.365A>C (p.Gln122Pro) c.314-1171A>C (n.314-1171A>C) c.88A>C n.638A>C n.605A>C | |
19 | g.11105394A>G | CA404076767 | LDLR | c.746A>G (p.Gln249Arg) c.488A>G (p.Gln163Arg) c.742A>G c.314-1998A>G (n.314-1998A>G) c.365A>G (p.Gln122Arg) c.314-1171A>G (n.314-1171A>G) c.88A>G n.638A>G n.605A>G | |
19 | g.11105394A>T | CA404076769 | LDLR | c.746A>T (p.Gln249Leu) c.488A>T (p.Gln163Leu) c.742A>T c.314-1998A>T (n.314-1998A>T) c.365A>T (p.Gln122Leu) c.314-1171A>T (n.314-1171A>T) c.88A>T n.638A>T n.605A>T | |
19 | g.11105394dup | CA2695223202 | LDLR | c.746dup (p.Leu250AlafsTer16) c.488dup (p.Leu164AlafsTer16) c.742dup c.314-1998dup (n.314-1998dup) c.365dup (p.Leu123AlafsTer16) c.314-1171dup (n.314-1171dup) c.88dup n.638dup n.605dup | |
19 | g.11105395G>A | CA505743175 | LDLR | c.747G>A (p.Gln249=) c.489G>A (p.Gln163=) c.743G>A c.314-1997G>A (n.314-1997G>A) c.366G>A (p.Gln122=) c.314-1170G>A (n.314-1170G>A) c.89G>A n.639G>A n.606G>A | |
19 | g.11105395G>C | CA404076773 | LDLR | c.747G>C (p.Gln249His) c.489G>C (p.Gln163His) c.743G>C c.314-1997G>C (n.314-1997G>C) c.366G>C (p.Gln122His) c.314-1170G>C (n.314-1170G>C) c.89G>C n.639G>C n.606G>C | |
19 | g.11105395G>T | CA404076775 | LDLR | c.747G>T (p.Gln249His) c.489G>T (p.Gln163His) c.743G>T c.314-1997G>T (n.314-1997G>T) c.366G>T (p.Gln122His) c.314-1170G>T (n.314-1170G>T) c.89G>T n.639G>T n.606G>T | |
19 | g.11105396C>A | CA404076778 | LDLR | c.748C>A (p.Leu250Met) c.490C>A (p.Leu164Met) c.744C>A c.314-1996C>A (n.314-1996C>A) c.367C>A (p.Leu123Met) c.314-1169C>A (n.314-1169C>A) c.90C>A n.640C>A n.607C>A | |
19 | g.11105396C= | CA2322767424 | LDLR | c.748C= (p.Leu250=) c.490C= (p.Leu164=) c.744C= c.314-1996C= (n.314-1996C=) c.367C= (p.Leu123=) c.314-1169C= (n.314-1169C=) c.90C= n.640C= n.607C= | |
19 | g.11105396C>G | CA404076780 | LDLR | c.748C>G (p.Leu250Val) c.490C>G (p.Leu164Val) c.744C>G c.314-1996C>G (n.314-1996C>G) c.367C>G (p.Leu123Val) c.314-1169C>G (n.314-1169C>G) c.90C>G n.640C>G n.607C>G | |
19 | g.11105396C>T | CA505743176 | LDLR | c.748C>T (p.Leu250=) c.490C>T (p.Leu164=) c.744C>T c.314-1996C>T (n.314-1996C>T) c.367C>T (p.Leu123=) c.314-1169C>T (n.314-1169C>T) c.90C>T n.640C>T n.607C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105397T>A | CA404076783 | LDLR | c.749T>A (p.Leu250Gln) c.491T>A (p.Leu164Gln) c.745T>A c.314-1995T>A (n.314-1995T>A) c.368T>A (p.Leu123Gln) c.314-1168T>A (n.314-1168T>A) c.91T>A n.641T>A n.608T>A | |
19 | g.11105397T>C | CA10584944 | LDLR | c.749T>C (p.Leu250Pro) c.491T>C (p.Leu164Pro) c.745T>C c.314-1995T>C (n.314-1995T>C) c.368T>C (p.Leu123Pro) c.314-1168T>C (n.314-1168T>C) c.91T>C n.641T>C n.608T>C | ClinVar dbSNP |
19 | g.11105397T>G | CA404076788 | LDLR | c.749T>G (p.Leu250Arg) c.491T>G (p.Leu164Arg) c.745T>G c.314-1995T>G (n.314-1995T>G) c.368T>G (p.Leu123Arg) c.314-1168T>G (n.314-1168T>G) c.91T>G n.641T>G n.608T>G | |
19 | g.11105397T= | CA2322767425 | LDLR | c.749T= (p.Leu250=) c.491T= (p.Leu164=) c.745T= c.314-1995T= (n.314-1995T=) c.368T= (p.Leu123=) c.314-1168T= (n.314-1168T=) c.91T= n.641T= n.608T= | |
19 | g.11105398G>A | CA505743177 | LDLR | c.750G>A (p.Leu250=) c.492G>A (p.Leu164=) c.746G>A c.314-1994G>A (n.314-1994G>A) c.369G>A (p.Leu123=) c.314-1167G>A (n.314-1167G>A) c.92G>A n.642G>A n.609G>A | dbSNP |
19 | g.11105398G>C | CA505743178 | LDLR | c.750G>C (p.Leu250=) c.492G>C (p.Leu164=) c.746G>C c.314-1994G>C (n.314-1994G>C) c.369G>C (p.Leu123=) c.314-1167G>C (n.314-1167G>C) c.92G>C n.642G>C n.609G>C | |
19 | g.11105398G= | CA2322767426 | LDLR | c.750G= (p.Leu250=) c.492G= (p.Leu164=) c.746G= c.314-1994G= (n.314-1994G=) c.369G= (p.Leu123=) c.314-1167G= (n.314-1167G=) c.92G= n.642G= n.609G= | |
19 | g.11105398G>T | CA505743179 | LDLR | c.750G>T (p.Leu250=) c.492G>T (p.Leu164=) c.746G>T c.314-1994G>T (n.314-1994G>T) c.369G>T (p.Leu123=) c.314-1167G>T (n.314-1167G>T) c.92G>T n.642G>T n.609G>T | |
19 | g.11105399T>A | CA404076797 | LDLR | c.751T>A (p.Trp251Arg) c.493T>A (p.Trp165Arg) c.747T>A c.314-1993T>A (n.314-1993T>A) c.370T>A (p.Trp124Arg) c.314-1166T>A (n.314-1166T>A) c.93T>A n.643T>A n.610T>A | |
19 | g.11105399T>C | CA404076793 | LDLR | c.751T>C (p.Trp251Arg) c.493T>C (p.Trp165Arg) c.747T>C c.314-1993T>C (n.314-1993T>C) c.370T>C (p.Trp124Arg) c.314-1166T>C (n.314-1166T>C) c.93T>C n.643T>C n.610T>C | |
19 | g.11105399T>G | CA10584945 | LDLR | c.751T>G (p.Trp251Gly) c.493T>G (p.Trp165Gly) c.747T>G c.314-1993T>G (n.314-1993T>G) c.370T>G (p.Trp124Gly) c.314-1166T>G (n.314-1166T>G) c.93T>G n.643T>G n.610T>G | ClinVar dbSNP |
19 | g.11105399T= | CA2322767427 | LDLR | c.751T= (p.Trp251=) c.493T= (p.Trp165=) c.747T= c.314-1993T= (n.314-1993T=) c.370T= (p.Trp124=) c.314-1166T= (n.314-1166T=) c.93T= n.643T= n.610T= | |
19 | g.11105400G>A | CA404076799 | LDLR | c.752G>A (p.Trp251Ter) c.494G>A (p.Trp165Ter) c.748G>A c.314-1992G>A (n.314-1992G>A) c.371G>A (p.Trp124Ter) c.314-1165G>A (n.314-1165G>A) c.94G>A n.644G>A n.611G>A | ClinVar |
19 | g.11105400G>C | CA404076800 | LDLR | c.752G>C (p.Trp251Ser) c.494G>C (p.Trp165Ser) c.748G>C c.314-1992G>C (n.314-1992G>C) c.371G>C (p.Trp124Ser) c.314-1165G>C (n.314-1165G>C) c.94G>C n.644G>C n.611G>C | |
19 | g.11105400G= | CA2322767428 | LDLR | c.752G= (p.Trp251=) c.494G= (p.Trp165=) c.748G= c.314-1992G= (n.314-1992G=) c.371G= (p.Trp124=) c.314-1165G= (n.314-1165G=) c.94G= n.644G= n.611G= | |
19 | g.11105400G>T | CA404076801 | LDLR | c.752G>T (p.Trp251Leu) c.494G>T (p.Trp165Leu) c.748G>T c.314-1992G>T (n.314-1992G>T) c.371G>T (p.Trp124Leu) c.314-1165G>T (n.314-1165G>T) c.94G>T n.644G>T n.611G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105401G>A | CA10584946 | LDLR | c.753G>A (p.Trp251Ter) c.495G>A (p.Trp165Ter) c.749G>A c.314-1991G>A (n.314-1991G>A) c.372G>A (p.Trp124Ter) c.314-1164G>A (n.314-1164G>A) c.95G>A n.645G>A n.612G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105401G>C | CA404076804 | LDLR | c.753G>C (p.Trp251Cys) c.495G>C (p.Trp165Cys) c.749G>C c.314-1991G>C (n.314-1991G>C) c.372G>C (p.Trp124Cys) c.314-1164G>C (n.314-1164G>C) c.95G>C n.645G>C n.612G>C | |
19 | g.11105401G= | CA2322767429 | LDLR | c.753G= (p.Trp251=) c.495G= (p.Trp165=) c.749G= c.314-1991G= (n.314-1991G=) c.372G= (p.Trp124=) c.314-1164G= (n.314-1164G=) c.95G= n.645G= n.612G= | |
19 | g.11105401G>T | CA404076807 | LDLR | c.753G>T (p.Trp251Cys) c.495G>T (p.Trp165Cys) c.749G>T c.314-1991G>T (n.314-1991G>T) c.372G>T (p.Trp124Cys) c.314-1164G>T (n.314-1164G>T) c.95G>T n.645G>T n.612G>T | |
19 | g.11105402G>A | CA404076810 | LDLR | c.754G>A (p.Ala252Thr) c.496G>A (p.Ala166Thr) c.750G>A c.314-1990G>A (n.314-1990G>A) c.373G>A (p.Ala125Thr) c.314-1163G>A (n.314-1163G>A) c.96G>A n.646G>A n.613G>A | ClinVar dbSNP |
19 | g.11105402G>C | CA404076813 | LDLR | c.754G>C (p.Ala252Pro) c.496G>C (p.Ala166Pro) c.750G>C c.314-1990G>C (n.314-1990G>C) c.373G>C (p.Ala125Pro) c.314-1163G>C (n.314-1163G>C) c.96G>C n.646G>C n.613G>C | |
19 | g.11105402G= | CA2322767430 | LDLR | c.754G= (p.Ala252=) c.496G= (p.Ala166=) c.750G= c.314-1990G= (n.314-1990G=) c.373G= (p.Ala125=) c.314-1163G= (n.314-1163G=) c.96G= n.646G= n.613G= | |
19 | g.11105402G>T | CA404076814 | LDLR | c.754G>T (p.Ala252Ser) c.496G>T (p.Ala166Ser) c.750G>T c.314-1990G>T (n.314-1990G>T) c.373G>T (p.Ala125Ser) c.314-1163G>T (n.314-1163G>T) c.96G>T n.646G>T n.613G>T | gnomAD v4 |
19 | g.11105403C>A | CA404076815 | LDLR | c.755C>A (p.Ala252Asp) c.497C>A (p.Ala166Asp) c.751C>A c.314-1989C>A (n.314-1989C>A) c.374C>A (p.Ala125Asp) c.314-1162C>A (n.314-1162C>A) c.97C>A n.647C>A n.614C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105403C= | CA2322767431 | LDLR | c.755C= (p.Ala252=) c.497C= (p.Ala166=) c.751C= c.314-1989C= (n.314-1989C=) c.374C= (p.Ala125=) c.314-1162C= (n.314-1162C=) c.97C= n.647C= n.614C= | |
19 | g.11105403C>G | CA404076817 | LDLR | c.755C>G (p.Ala252Gly) c.497C>G (p.Ala166Gly) c.751C>G c.314-1989C>G (n.314-1989C>G) c.374C>G (p.Ala125Gly) c.314-1162C>G (n.314-1162C>G) c.97C>G n.647C>G n.614C>G | |
19 | g.11105403C>T | CA404076820 | LDLR | c.755C>T (p.Ala252Val) c.497C>T (p.Ala166Val) c.751C>T c.314-1989C>T (n.314-1989C>T) c.374C>T (p.Ala125Val) c.314-1162C>T (n.314-1162C>T) c.97C>T n.647C>T n.614C>T | gnomAD v4 |
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 |
19 | g.11105411A= | CA2322767440 | LDLR | c.763A= (p.Asn255=) c.505A= (p.Asn169=) c.759A= c.314-1981A= (n.314-1981A=) c.382A= (p.Asn128=) c.314-1154A= (n.314-1154A=) c.105A= n.655A= n.622A= | |
19 | g.11105411A>C | CA404076878 | LDLR | c.763A>C (p.Asn255His) c.505A>C (p.Asn169His) c.759A>C c.314-1981A>C (n.314-1981A>C) c.382A>C (p.Asn128His) c.314-1154A>C (n.314-1154A>C) c.105A>C n.655A>C n.622A>C | COSMIC |
19 | g.11105411A>G | CA404076874 | LDLR | c.763A>G (p.Asn255Asp) c.505A>G (p.Asn169Asp) c.759A>G c.314-1981A>G (n.314-1981A>G) c.382A>G (p.Asn128Asp) c.314-1154A>G (n.314-1154A>G) c.105A>G n.655A>G n.622A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105411A>T | CA404076870 | LDLR | c.763A>T (p.Asn255Tyr) c.505A>T (p.Asn169Tyr) c.759A>T c.314-1981A>T (n.314-1981A>T) c.382A>T (p.Asn128Tyr) c.314-1154A>T (n.314-1154A>T) c.105A>T n.655A>T n.622A>T | gnomAD v4 |
19 | g.11105412dup | CA2830763873 | LDLR | c.764dup (p.Asn255LysfsTer11) c.506dup (p.Asn169LysfsTer11) c.760dup c.314-1980dup (n.314-1980dup) c.383dup (p.Asn128LysfsTer11) c.314-1153dup (n.314-1153dup) c.106dup n.656dup n.623dup | |
19 | g.11105412A= | CA2322767441 | LDLR | c.764A= (p.Asn255=) c.506A= (p.Asn169=) c.760A= c.314-1980A= (n.314-1980A=) c.383A= (p.Asn128=) c.314-1153A= (n.314-1153A=) c.106A= n.656A= n.623A= | |
19 | g.11105412A>C | CA404076881 | LDLR | c.764A>C (p.Asn255Thr) c.506A>C (p.Asn169Thr) c.760A>C c.314-1980A>C (n.314-1980A>C) c.383A>C (p.Asn128Thr) c.314-1153A>C (n.314-1153A>C) c.106A>C n.656A>C n.623A>C | |
19 | g.11105412A>G | CA404076882 | LDLR | c.764A>G (p.Asn255Ser) c.506A>G (p.Asn169Ser) c.760A>G c.314-1980A>G (n.314-1980A>G) c.383A>G (p.Asn128Ser) c.314-1153A>G (n.314-1153A>G) c.106A>G n.656A>G n.623A>G | COSMIC |
19 | g.11105412A>T | CA10584953 | LDLR | c.764A>T (p.Asn255Ile) c.506A>T (p.Asn169Ile) c.760A>T c.314-1980A>T (n.314-1980A>T) c.383A>T (p.Asn128Ile) c.314-1153A>T (n.314-1153A>T) c.106A>T n.656A>T n.623A>T | ClinVar dbSNP |
19 | g.11105414_11105416del | CA2580096447 | LDLR | c.766_768del (p.Asp256del) c.508_510del (p.Asp170del) c.762_764del c.314-1978_314-1976del (n.314-1978_314-1976del) c.385_387del (p.Asp129del) c.314-1151_314-1149del (n.314-1151_314-1149del) c.108_110del n.658_660del n.625_627del | ClinVar |
19 | g.11105413C>A | CA404076884 | LDLR | c.765C>A (p.Asn255Lys) c.507C>A (p.Asn169Lys) c.761C>A c.314-1979C>A (n.314-1979C>A) c.384C>A (p.Asn128Lys) c.314-1152C>A (n.314-1152C>A) c.107C>A n.657C>A n.624C>A | |
19 | g.11105413C= | CA2322767442 | LDLR | c.765C= (p.Asn255=) c.507C= (p.Asn169=) c.761C= c.314-1979C= (n.314-1979C=) c.384C= (p.Asn128=) c.314-1152C= (n.314-1152C=) c.107C= n.657C= n.624C= | |
19 | g.11105413C>G | CA404076887 | LDLR | c.765C>G (p.Asn255Lys) c.507C>G (p.Asn169Lys) c.761C>G c.314-1979C>G (n.314-1979C>G) c.384C>G (p.Asn128Lys) c.314-1152C>G (n.314-1152C>G) c.107C>G n.657C>G n.624C>G | |
19 | g.11105413C>T | CA023711 | LDLR | c.765C>T (p.Asn255=) c.507C>T (p.Asn169=) c.761C>T c.314-1979C>T (n.314-1979C>T) c.384C>T (p.Asn128=) c.314-1152C>T (n.314-1152C>T) c.107C>T n.657C>T n.624C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105414G>A | CA043768 | LDLR | c.766G>A (p.Asp256Asn) c.508G>A (p.Asp170Asn) c.762G>A c.314-1978G>A (n.314-1978G>A) c.385G>A (p.Asp129Asn) c.314-1151G>A (n.314-1151G>A) c.108G>A n.658G>A n.625G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105414G>C | CA404076898 | LDLR | c.766G>C (p.Asp256His) c.508G>C (p.Asp170His) c.762G>C c.314-1978G>C (n.314-1978G>C) c.385G>C (p.Asp129His) c.314-1151G>C (n.314-1151G>C) c.108G>C n.658G>C n.625G>C | |
19 | g.11105414G= | CA2322767443 | LDLR | c.766G= (p.Asp256=) c.508G= (p.Asp170=) c.762G= c.314-1978G= (n.314-1978G=) c.385G= (p.Asp129=) c.314-1151G= (n.314-1151G=) c.108G= n.658G= n.625G= | |
19 | g.11105414G>T | CA404076893 | LDLR | c.766G>T (p.Asp256Tyr) c.508G>T (p.Asp170Tyr) c.762G>T c.314-1978G>T (n.314-1978G>T) c.385G>T (p.Asp129Tyr) c.314-1151G>T (n.314-1151G>T) c.108G>T n.658G>T n.625G>T | |
19 | g.11105414_11105415insC | CA10584954 | LDLR | c.766_767insC (p.Asp256AlafsTer10) c.508_509insC (p.Asp170AlafsTer10) c.762_763insC c.314-1978_314-1977insC (n.314-1978_314-1977insC) c.385_386insC (p.Asp129AlafsTer10) c.314-1151_314-1150insC (n.314-1151_314-1150insC) c.108_109insC n.658_659insC n.625_626insC | ClinVar dbSNP |
19 | g.11105415A= | CA2322767444 | LDLR | c.767A= (p.Asp256=) c.509A= (p.Asp170=) c.763A= c.314-1977A= (n.314-1977A=) c.386A= (p.Asp129=) c.314-1150A= (n.314-1150A=) c.109A= n.659A= n.626A= | |
19 | g.11105415A>C | CA404076906 | LDLR | c.767A>C (p.Asp256Ala) c.509A>C (p.Asp170Ala) c.763A>C c.314-1977A>C (n.314-1977A>C) c.386A>C (p.Asp129Ala) c.314-1150A>C (n.314-1150A>C) c.109A>C n.659A>C n.626A>C | |
19 | g.11105415A>G | CA043784 | LDLR | c.767A>G (p.Asp256Gly) c.509A>G (p.Asp170Gly) c.763A>G c.314-1977A>G (n.314-1977A>G) c.386A>G (p.Asp129Gly) c.314-1150A>G (n.314-1150A>G) c.109A>G n.659A>G n.626A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105415A>T | CA404076912 | LDLR | c.767A>T (p.Asp256Val) c.509A>T (p.Asp170Val) c.763A>T c.314-1977A>T (n.314-1977A>T) c.386A>T (p.Asp129Val) c.314-1150A>T (n.314-1150A>T) c.109A>T n.659A>T n.626A>T | |
19 | g.11105415_11105416delinsAC | CA2322767445 | LDLR | c.767_768delinsAC (p.Asp256=) c.509_510delinsAC (p.Asp170=) c.763_764delinsAC c.314-1977_314-1976delinsAC (n.314-1977_314-1976delinsAC) c.386_387delinsAC (p.Asp129=) c.314-1150_314-1149delinsAC (n.314-1150_314-1149delinsAC) c.109_110delinsAC n.659_660delinsAC n.626_627delinsAC | |
19 | g.11105416C>A | CA16609804 | LDLR | c.768C>A (p.Asp256Glu) c.510C>A (p.Asp170Glu) c.764C>A c.314-1976C>A (n.314-1976C>A) c.387C>A (p.Asp129Glu) c.314-1149C>A (n.314-1149C>A) c.110C>A n.660C>A n.627C>A | ClinVar dbSNP |
19 | g.11105416C= | CA2322767446 | LDLR | c.768C= (p.Asp256=) c.510C= (p.Asp170=) c.764C= c.314-1976C= (n.314-1976C=) c.387C= (p.Asp129=) c.314-1149C= (n.314-1149C=) c.110C= n.660C= n.627C= | |
19 | g.11105416C>G | CA404076916 | LDLR | c.768C>G (p.Asp256Glu) c.510C>G (p.Asp170Glu) c.764C>G c.314-1976C>G (n.314-1976C>G) c.387C>G (p.Asp129Glu) c.314-1149C>G (n.314-1149C>G) c.110C>G n.660C>G n.627C>G | gnomAD v4 |
19 | g.11105416C>T | CA505743201 | LDLR | c.768C>T (p.Asp256=) c.510C>T (p.Asp170=) c.764C>T c.314-1976C>T (n.314-1976C>T) c.387C>T (p.Asp129=) c.314-1149C>T (n.314-1149C>T) c.110C>T n.660C>T n.627C>T | gnomAD v4 |
19 | g.11105419dup | CA10584956 | LDLR | c.771dup (p.Asp258ArgfsTer8) c.513dup (p.Asp172ArgfsTer8) c.767dup c.314-1973dup (n.314-1973dup) c.390dup (p.Asp131ArgfsTer8) c.314-1146dup (n.314-1146dup) c.113dup n.663dup n.630dup | ClinVar dbSNP |
19 | g.11105419del | CA10584955 | LDLR | c.771del (p.Asp258ThrfsTer?) c.513del (p.Asp172ThrfsTer?) c.767del c.314-1973del (n.314-1973del) c.390del (p.Asp131ThrfsTer?) c.314-1146del (n.314-1146del) c.113del n.663del n.630del | ClinVar dbSNP gnomAD v4 |
19 | g.11105417C>A | CA404076924 | LDLR | c.769C>A (p.Pro257Thr) c.511C>A (p.Pro171Thr) c.765C>A c.314-1975C>A (n.314-1975C>A) c.388C>A (p.Pro130Thr) c.314-1148C>A (n.314-1148C>A) c.111C>A n.661C>A n.628C>A | ClinVar dbSNP |
19 | g.11105417C= | CA2322767447 | LDLR | c.769C= (p.Pro257=) c.511C= (p.Pro171=) c.765C= c.314-1975C= (n.314-1975C=) c.388C= (p.Pro130=) c.314-1148C= (n.314-1148C=) c.111C= n.661C= n.628C= | |
19 | g.11105417C>G | CA404076929 | LDLR | c.769C>G (p.Pro257Ala) c.511C>G (p.Pro171Ala) c.765C>G c.314-1975C>G (n.314-1975C>G) c.388C>G (p.Pro130Ala) c.314-1148C>G (n.314-1148C>G) c.111C>G n.661C>G n.628C>G | |
19 | g.11105417C>T | CA404076926 | LDLR | c.769C>T (p.Pro257Ser) c.511C>T (p.Pro171Ser) c.765C>T c.314-1975C>T (n.314-1975C>T) c.388C>T (p.Pro130Ser) c.314-1148C>T (n.314-1148C>T) c.111C>T n.661C>T n.628C>T | |
19 | g.11105418C>A | CA404076930 | LDLR | c.770C>A (p.Pro257His) c.512C>A (p.Pro171His) c.766C>A c.314-1974C>A (n.314-1974C>A) c.389C>A (p.Pro130His) c.314-1147C>A (n.314-1147C>A) c.112C>A n.662C>A n.629C>A | |
19 | g.11105418C= | CA2322767448 | LDLR | c.770C= (p.Pro257=) c.512C= (p.Pro171=) c.766C= c.314-1974C= (n.314-1974C=) c.389C= (p.Pro130=) c.314-1147C= (n.314-1147C=) c.112C= n.662C= n.629C= | |
19 | g.11105418C>G | CA404076931 | LDLR | c.770C>G (p.Pro257Arg) c.512C>G (p.Pro171Arg) c.766C>G c.314-1974C>G (n.314-1974C>G) c.389C>G (p.Pro130Arg) c.314-1147C>G (n.314-1147C>G) c.112C>G n.662C>G n.629C>G | |
19 | g.11105418C>T | CA404076932 | LDLR | c.770C>T (p.Pro257Leu) c.512C>T (p.Pro171Leu) c.766C>T c.314-1974C>T (n.314-1974C>T) c.389C>T (p.Pro130Leu) c.314-1147C>T (n.314-1147C>T) c.112C>T n.662C>T n.629C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105419C>A | CA505743203 | LDLR | c.771C>A (p.Pro257=) c.513C>A (p.Pro171=) c.767C>A c.314-1973C>A (n.314-1973C>A) c.390C>A (p.Pro130=) c.314-1146C>A (n.314-1146C>A) c.113C>A n.663C>A n.630C>A | ClinVar |
19 | g.11105419C= | CA2322767449 | LDLR | c.771C= (p.Pro257=) c.513C= (p.Pro171=) c.767C= c.314-1973C= (n.314-1973C=) c.390C= (p.Pro130=) c.314-1146C= (n.314-1146C=) c.113C= n.663C= n.630C= | |
19 | g.11105419C>G | CA505743204 | LDLR | c.771C>G (p.Pro257=) c.513C>G (p.Pro171=) c.767C>G c.314-1973C>G (n.314-1973C>G) c.390C>G (p.Pro130=) c.314-1146C>G (n.314-1146C>G) c.113C>G n.663C>G n.630C>G | |
19 | g.11105419C>T | CA043796 | LDLR | c.771C>T (p.Pro257=) c.513C>T (p.Pro171=) c.767C>T c.314-1973C>T (n.314-1973C>T) c.390C>T (p.Pro130=) c.314-1146C>T (n.314-1146C>T) c.113C>T n.663C>T n.630C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105420G>A | CA10584957 | LDLR | c.772G>A (p.Asp258Asn) c.514G>A (p.Asp172Asn) c.768G>A c.314-1972G>A (n.314-1972G>A) c.391G>A (p.Asp131Asn) c.314-1145G>A (n.314-1145G>A) c.114G>A n.664G>A n.631G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105420G>C | CA10584958 | LDLR | c.772G>C (p.Asp258His) c.514G>C (p.Asp172His) c.768G>C c.314-1972G>C (n.314-1972G>C) c.391G>C (p.Asp131His) c.314-1145G>C (n.314-1145G>C) c.114G>C n.664G>C n.631G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105420G= | CA2322767450 | LDLR | c.772G= (p.Asp258=) c.514G= (p.Asp172=) c.768G= c.314-1972G= (n.314-1972G=) c.391G= (p.Asp131=) c.314-1145G= (n.314-1145G=) c.114G= n.664G= n.631G= | |
19 | g.11105420G>T | CA10584959 | LDLR | c.772G>T (p.Asp258Tyr) c.514G>T (p.Asp172Tyr) c.768G>T c.314-1972G>T (n.314-1972G>T) c.391G>T (p.Asp131Tyr) c.314-1145G>T (n.314-1145G>T) c.114G>T n.664G>T n.631G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105422_11105430dup | CA10584962 | LDLR | c.774_782dup (p.Asp261_Gly262insCysGluAsp) c.516_524dup (p.Asp175_Gly176insCysGluAsp) c.770_778dup c.314-1970_314-1962dup (n.314-1970_314-1962dup) c.393_401dup (p.Asp134_Gly135insCysGluAsp) c.314-1143_314-1135dup (n.314-1143_314-1135dup) c.116_124dup n.666_674dup n.633_641dup | ClinVar dbSNP |
19 | g.11105421A= | CA2322767451 | LDLR | c.773A= (p.Asp258=) c.515A= (p.Asp172=) c.769A= c.314-1971A= (n.314-1971A=) c.392A= (p.Asp131=) c.314-1144A= (n.314-1144A=) c.115A= n.665A= n.632A= | |
19 | g.11105421A>C | CA404076938 | LDLR | c.773A>C (p.Asp258Ala) c.515A>C (p.Asp172Ala) c.769A>C c.314-1971A>C (n.314-1971A>C) c.392A>C (p.Asp131Ala) c.314-1144A>C (n.314-1144A>C) c.115A>C n.665A>C n.632A>C | ClinVar |
19 | g.11105421A>G | CA10584960 | LDLR | c.773A>G (p.Asp258Gly) c.515A>G (p.Asp172Gly) c.769A>G c.314-1971A>G (n.314-1971A>G) c.392A>G (p.Asp131Gly) c.314-1144A>G (n.314-1144A>G) c.115A>G n.665A>G n.632A>G | ClinVar dbSNP |
19 | g.11105421A>T | CA404076942 | LDLR | c.773A>T (p.Asp258Val) c.515A>T (p.Asp172Val) c.769A>T c.314-1971A>T (n.314-1971A>T) c.392A>T (p.Asp131Val) c.314-1144A>T (n.314-1144A>T) c.115A>T n.665A>T n.632A>T | |
19 | g.11105421_11105422delinsTT | CA2580612602 | LDLR | c.773_774delinsTT (p.Asp258Val) c.515_516delinsTT (p.Asp172Val) c.769_770delinsTT c.314-1971_314-1970delinsTT (n.314-1971_314-1970delinsTT) c.392_393delinsTT (p.Asp131Val) c.314-1144_314-1143delinsTT (n.314-1144_314-1143delinsTT) c.115_116delinsTT n.665_666delinsTT n.632_633delinsTT | ClinVar |
19 | g.11105422C>A | CA404076945 | LDLR | c.774C>A (p.Asp258Glu) c.516C>A (p.Asp172Glu) c.770C>A c.314-1970C>A (n.314-1970C>A) c.393C>A (p.Asp131Glu) c.314-1143C>A (n.314-1143C>A) c.116C>A n.666C>A n.633C>A | |
19 | g.11105422C= | CA2322767452 | LDLR | c.774C= (p.Asp258=) c.516C= (p.Asp172=) c.770C= c.314-1970C= (n.314-1970C=) c.393C= (p.Asp131=) c.314-1143C= (n.314-1143C=) c.116C= n.666C= n.633C= | |
19 | g.11105422C>G | CA10584961 | LDLR | c.774C>G (p.Asp258Glu) c.516C>G (p.Asp172Glu) c.770C>G c.314-1970C>G (n.314-1970C>G) c.393C>G (p.Asp131Glu) c.314-1143C>G (n.314-1143C>G) c.116C>G n.666C>G n.633C>G | ClinVar dbSNP |
19 | g.11105422C>T | CA505743211 | LDLR | c.774C>T (p.Asp258=) c.516C>T (p.Asp172=) c.770C>T c.314-1970C>T (n.314-1970C>T) c.393C>T (p.Asp131=) c.314-1143C>T (n.314-1143C>T) c.116C>T n.666C>T n.633C>T | COSMIC |
19 | g.11105423T>A | CA404076950 | LDLR | c.775T>A (p.Cys259Ser) c.517T>A (p.Cys173Ser) c.771T>A c.314-1969T>A (n.314-1969T>A) c.394T>A (p.Cys132Ser) c.314-1142T>A (n.314-1142T>A) c.117T>A n.667T>A n.634T>A | |
19 | g.11105423T>C | CA10584963 | LDLR | c.775T>C (p.Cys259Arg) c.517T>C (p.Cys173Arg) c.771T>C c.314-1969T>C (n.314-1969T>C) c.394T>C (p.Cys132Arg) c.314-1142T>C (n.314-1142T>C) c.117T>C n.667T>C n.634T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105423T>G | CA10584964 | LDLR | c.775T>G (p.Cys259Gly) c.517T>G (p.Cys173Gly) c.771T>G c.314-1969T>G (n.314-1969T>G) c.394T>G (p.Cys132Gly) c.314-1142T>G (n.314-1142T>G) c.117T>G n.667T>G n.634T>G | ClinVar dbSNP |
19 | g.11105423T= | CA2322767455 | LDLR | c.775T= (p.Cys259=) c.517T= (p.Cys173=) c.771T= c.314-1969T= (n.314-1969T=) c.394T= (p.Cys132=) c.314-1142T= (n.314-1142T=) c.117T= n.667T= n.634T= | |
19 | g.11105423_11105424delinsTG | CA2322767454 | LDLR | c.775_776delinsTG (p.Cys259=) c.517_518delinsTG (p.Cys173=) c.771_772delinsTG c.314-1969_314-1968delinsTG (n.314-1969_314-1968delinsTG) c.394_395delinsTG (p.Cys132=) c.314-1142_314-1141delinsTG (n.314-1142_314-1141delinsTG) c.117_118delinsTG n.667_668delinsTG n.634_635delinsTG | |
19 | g.11105423_11105437delinsTGCGAAGATGGCTCG | CA2322767453 | LDLR | c.775_789delinsTGCGAAGATGGCTCG (p.Cys259=) c.517_531delinsTGCGAAGATGGCTCG (p.Cys173=) c.771_785delinsTGCGAAGATGGCTCG c.314-1969_314-1955delinsTGCGAAGATGGCTCG (n.314-1969_314-1955delinsTGCGAAGATGGCTCG) c.394_408delinsTGCGAAGATGGCTCG (p.Cys132=) c.314-1142_314-1128delinsTGCGAAGATGGCTCG (n.314-1142_314-1128delinsTGCGAAGATGGCTCG) c.117_131delinsTGCGAAGATGGCTCG n.667_681delinsTGCGAAGATGGCTCG n.634_648delinsTGCGAAGATGGCTCG | |
19 | g.11105424del | CA10584966 | LDLR | c.776del (p.Cys259SerfsTer?) c.518del (p.Cys173SerfsTer?) c.772del c.314-1968del (n.314-1968del) c.395del (p.Cys132SerfsTer?) c.314-1141del (n.314-1141del) c.118del n.668del n.635del | ClinVar dbSNP gnomAD v4 |
19 | g.11105424G>A | CA10584965 | LDLR | c.776G>A (p.Cys259Tyr) c.518G>A (p.Cys173Tyr) c.772G>A c.314-1968G>A (n.314-1968G>A) c.395G>A (p.Cys132Tyr) c.314-1141G>A (n.314-1141G>A) c.118G>A n.668G>A n.635G>A | ClinVar dbSNP |
19 | g.11105424G>C | CA404076968 | LDLR | c.776G>C (p.Cys259Ser) c.518G>C (p.Cys173Ser) c.772G>C c.314-1968G>C (n.314-1968G>C) c.395G>C (p.Cys132Ser) c.314-1141G>C (n.314-1141G>C) c.118G>C n.668G>C n.635G>C | ClinVar dbSNP |
19 | g.11105424G= | CA2322767456 | LDLR | c.776G= (p.Cys259=) c.518G= (p.Cys173=) c.772G= c.314-1968G= (n.314-1968G=) c.395G= (p.Cys132=) c.314-1141G= (n.314-1141G=) c.118G= n.668G= n.635G= | |
19 | g.11105424G>T | CA404076971 | LDLR | c.776G>T (p.Cys259Phe) c.518G>T (p.Cys173Phe) c.772G>T c.314-1968G>T (n.314-1968G>T) c.395G>T (p.Cys132Phe) c.314-1141G>T (n.314-1141G>T) c.118G>T n.668G>T n.635G>T | |
19 | g.11105425_11105438del | CA645373225 | LDLR | c.777_790del (p.Cys259Ter) c.519_532del (p.Cys173Ter) c.773_786del c.314-1967_314-1954del (n.314-1967_314-1954del) c.396_409del (p.Cys132Ter) c.314-1140_314-1127del (n.314-1140_314-1127del) c.119_132del n.669_682del n.636_649del | ClinVar dbSNP |
19 | g.11105425C>A | CA10584967 | LDLR | c.777C>A (p.Cys259Ter) c.519C>A (p.Cys173Ter) c.773C>A c.314-1967C>A (n.314-1967C>A) c.396C>A (p.Cys132Ter) c.314-1140C>A (n.314-1140C>A) c.119C>A n.669C>A n.636C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105425C= | CA2322767457 | LDLR | c.777C= (p.Cys259=) c.519C= (p.Cys173=) c.773C= c.314-1967C= (n.314-1967C=) c.396C= (p.Cys132=) c.314-1140C= (n.314-1140C=) c.119C= n.669C= n.636C= | |
19 | g.11105425C>G | CA10584968 | LDLR | c.777C>G (p.Cys259Trp) c.519C>G (p.Cys173Trp) c.773C>G c.314-1967C>G (n.314-1967C>G) c.396C>G (p.Cys132Trp) c.314-1140C>G (n.314-1140C>G) c.119C>G n.669C>G n.636C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105425C>T | CA043809 | LDLR | c.777C>T (p.Cys259=) c.519C>T (p.Cys173=) c.773C>T c.314-1967C>T (n.314-1967C>T) c.396C>T (p.Cys132=) c.314-1140C>T (n.314-1140C>T) c.119C>T n.669C>T n.636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105426del | CA2695223204 | LDLR | c.778del (p.Glu260LysfsTer?) c.520del (p.Glu174LysfsTer?) c.774del c.314-1966del (n.314-1966del) c.397del (p.Glu133LysfsTer?) c.314-1139del (n.314-1139del) c.120del n.670del n.637del | |
19 | g.11105426G>A | CA043821 | LDLR | c.778G>A (p.Glu260Lys) c.520G>A (p.Glu174Lys) c.774G>A c.314-1966G>A (n.314-1966G>A) c.397G>A (p.Glu133Lys) c.314-1139G>A (n.314-1139G>A) c.120G>A n.670G>A n.637G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105426G>C | CA404076983 | LDLR | c.778G>C (p.Glu260Gln) c.520G>C (p.Glu174Gln) c.774G>C c.314-1966G>C (n.314-1966G>C) c.397G>C (p.Glu133Gln) c.314-1139G>C (n.314-1139G>C) c.120G>C n.670G>C n.637G>C | |
19 | g.11105426G= | CA2322767458 | LDLR | c.778G= (p.Glu260=) c.520G= (p.Glu174=) c.774G= c.314-1966G= (n.314-1966G=) c.397G= (p.Glu133=) c.314-1139G= (n.314-1139G=) c.120G= n.670G= n.637G= | |
19 | g.11105426G>T | CA043837 | LDLR | c.778G>T (p.Glu260Ter) c.520G>T (p.Glu174Ter) c.774G>T c.314-1966G>T (n.314-1966G>T) c.397G>T (p.Glu133Ter) c.314-1139G>T (n.314-1139G>T) c.120G>T n.670G>T n.637G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105427A>C | CA404076988 | LDLR | c.779A>C (p.Glu260Ala) c.521A>C (p.Glu174Ala) c.775A>C c.314-1965A>C (n.314-1965A>C) c.398A>C (p.Glu133Ala) c.314-1138A>C (n.314-1138A>C) c.121A>C n.671A>C n.638A>C | |
19 | g.11105427A>G | CA404076991 | LDLR | c.779A>G (p.Glu260Gly) c.521A>G (p.Glu174Gly) c.775A>G c.314-1965A>G (n.314-1965A>G) c.398A>G (p.Glu133Gly) c.314-1138A>G (n.314-1138A>G) c.121A>G n.671A>G n.638A>G | |
19 | g.11105427A>T | CA404076994 | LDLR | c.779A>T (p.Glu260Val) c.521A>T (p.Glu174Val) c.775A>T c.314-1965A>T (n.314-1965A>T) c.398A>T (p.Glu133Val) c.314-1138A>T (n.314-1138A>T) c.121A>T n.671A>T n.638A>T | |
19 | g.11105428A>C | CA404076999 | LDLR | c.780A>C (p.Glu260Asp) c.522A>C (p.Glu174Asp) c.776A>C c.314-1964A>C (n.314-1964A>C) c.399A>C (p.Glu133Asp) c.314-1137A>C (n.314-1137A>C) c.122A>C n.672A>C n.639A>C | |
19 | g.11105428A>G | CA505743220 | LDLR | c.780A>G (p.Glu260=) c.522A>G (p.Glu174=) c.776A>G c.314-1964A>G (n.314-1964A>G) c.399A>G (p.Glu133=) c.314-1137A>G (n.314-1137A>G) c.122A>G n.672A>G n.639A>G | |
19 | g.11105428A>T | CA404077001 | LDLR | c.780A>T (p.Glu260Asp) c.522A>T (p.Glu174Asp) c.776A>T c.314-1964A>T (n.314-1964A>T) c.399A>T (p.Glu133Asp) c.314-1137A>T (n.314-1137A>T) c.122A>T n.672A>T n.639A>T | |
19 | g.11105428_11105440delinsAGATGGCTCGGAT | CA2322767459 | LDLR | c.780_792delinsAGATGGCTCGGAT (p.Glu260=) c.522_534delinsAGATGGCTCGGAT (p.Glu174=) c.776_788delinsAGATGGCTCGGAT c.314-1964_314-1952delinsAGATGGCTCGGAT (n.314-1964_314-1952delinsAGATGGCTCGGAT) c.399_411delinsAGATGGCTCGGAT (p.Glu133=) c.314-1137_314-1125delinsAGATGGCTCGGAT (n.314-1137_314-1125delinsAGATGGCTCGGAT) c.122_134delinsAGATGGCTCGGAT n.672_684delinsAGATGGCTCGGAT n.639_651delinsAGATGGCTCGGAT | |
19 | g.11105429G>A | CA023713 | LDLR | c.781G>A (p.Asp261Asn) c.523G>A (p.Asp175Asn) c.777G>A c.314-1963G>A (n.314-1963G>A) c.400G>A (p.Asp134Asn) c.314-1136G>A (n.314-1136G>A) c.123G>A n.673G>A n.640G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105429G>C | CA404077006 | LDLR | c.781G>C (p.Asp261His) c.523G>C (p.Asp175His) c.777G>C c.314-1963G>C (n.314-1963G>C) c.400G>C (p.Asp134His) c.314-1136G>C (n.314-1136G>C) c.123G>C n.673G>C n.640G>C | |
19 | g.11105429G= | CA2322767460 | LDLR | c.781G= (p.Asp261=) c.523G= (p.Asp175=) c.777G= c.314-1963G= (n.314-1963G=) c.400G= (p.Asp134=) c.314-1136G= (n.314-1136G=) c.123G= n.673G= n.640G= | |
19 | g.11105429G>T | CA10584969 | LDLR | c.781G>T (p.Asp261Tyr) c.523G>T (p.Asp175Tyr) c.777G>T c.314-1963G>T (n.314-1963G>T) c.400G>T (p.Asp134Tyr) c.314-1136G>T (n.314-1136G>T) c.123G>T n.673G>T n.640G>T | ClinVar dbSNP |
19 | g.11105431_11105442del | CA10584970 | LDLR | c.783_794del (p.Asp261_Asp264del) c.525_536del (p.Asp175_Asp178del) c.779_790del c.314-1961_314-1950del (n.314-1961_314-1950del) c.402_413del (p.Asp134_Asp137del) c.314-1134_314-1123del (n.314-1134_314-1123del) c.125_136del n.675_686del n.642_653del | ClinVar dbSNP |
19 | g.11105430A>C | CA404077014 | LDLR | c.782A>C (p.Asp261Ala) c.524A>C (p.Asp175Ala) c.778A>C c.314-1962A>C (n.314-1962A>C) c.401A>C (p.Asp134Ala) c.314-1135A>C (n.314-1135A>C) c.124A>C n.674A>C n.641A>C | |
19 | g.11105430A>G | CA404077017 | LDLR | c.782A>G (p.Asp261Gly) c.524A>G (p.Asp175Gly) c.778A>G c.314-1962A>G (n.314-1962A>G) c.401A>G (p.Asp134Gly) c.314-1135A>G (n.314-1135A>G) c.124A>G n.674A>G n.641A>G | |
19 | g.11105430A>T | CA404077020 | LDLR | c.782A>T (p.Asp261Val) c.524A>T (p.Asp175Val) c.778A>T c.314-1962A>T (n.314-1962A>T) c.401A>T (p.Asp134Val) c.314-1135A>T (n.314-1135A>T) c.124A>T n.674A>T n.641A>T | gnomAD v4 |
19 | g.11105431T>A | CA404077022 | LDLR | c.783T>A (p.Asp261Glu) c.525T>A (p.Asp175Glu) c.779T>A c.314-1961T>A (n.314-1961T>A) c.402T>A (p.Asp134Glu) c.314-1134T>A (n.314-1134T>A) c.125T>A n.675T>A n.642T>A | |
19 | g.11105431T>C | CA505743224 | LDLR | c.783T>C (p.Asp261=) c.525T>C (p.Asp175=) c.779T>C c.314-1961T>C (n.314-1961T>C) c.402T>C (p.Asp134=) c.314-1134T>C (n.314-1134T>C) c.125T>C n.675T>C n.642T>C | ClinVar |
19 | g.11105431T>G | CA404077023 | LDLR | c.783T>G (p.Asp261Glu) c.525T>G (p.Asp175Glu) c.779T>G c.314-1961T>G (n.314-1961T>G) c.402T>G (p.Asp134Glu) c.314-1134T>G (n.314-1134T>G) c.125T>G n.675T>G n.642T>G | |
19 | g.11105431T= | CA2322767461 | LDLR | c.783T= (p.Asp261=) c.525T= (p.Asp175=) c.779T= c.314-1961T= (n.314-1961T=) c.402T= (p.Asp134=) c.314-1134T= (n.314-1134T=) c.125T= n.675T= n.642T= | |
19 | g.11105432G>A | CA404077026 | LDLR | c.784G>A (p.Gly262Ser) c.526G>A (p.Gly176Ser) c.780G>A c.314-1960G>A (n.314-1960G>A) c.403G>A (p.Gly135Ser) c.314-1133G>A (n.314-1133G>A) c.126G>A n.676G>A n.643G>A | gnomAD v4 |
19 | g.11105432G>C | CA404077029 | LDLR | c.784G>C (p.Gly262Arg) c.526G>C (p.Gly176Arg) c.780G>C c.314-1960G>C (n.314-1960G>C) c.403G>C (p.Gly135Arg) c.314-1133G>C (n.314-1133G>C) c.126G>C n.676G>C n.643G>C | |
19 | g.11105432G>T | CA404077031 | LDLR | c.784G>T (p.Gly262Cys) c.526G>T (p.Gly176Cys) c.780G>T c.314-1960G>T (n.314-1960G>T) c.403G>T (p.Gly135Cys) c.314-1133G>T (n.314-1133G>T) c.126G>T n.676G>T n.643G>T | |
19 | g.11105432_11105439dup | CA10584971 | LDLR | c.784_791dup (p.Asp264GlufsTer31) c.526_533dup (p.Asp178GlufsTer31) c.780_787dup c.314-1960_314-1953dup (n.314-1960_314-1953dup) c.403_410dup (p.Asp137GlufsTer31) c.314-1133_314-1126dup (n.314-1133_314-1126dup) c.126_133dup n.676_683dup n.643_650dup | ClinVar dbSNP gnomAD v4 |
19 | g.11105433G>A | CA404077051 | LDLR | c.785G>A (p.Gly262Asp) c.527G>A (p.Gly176Asp) c.781G>A c.314-1959G>A (n.314-1959G>A) c.404G>A (p.Gly135Asp) c.314-1132G>A (n.314-1132G>A) c.127G>A n.677G>A n.644G>A | |
19 | g.11105433G>C | CA404077042 | LDLR | c.785G>C (p.Gly262Ala) c.527G>C (p.Gly176Ala) c.781G>C c.314-1959G>C (n.314-1959G>C) c.404G>C (p.Gly135Ala) c.314-1132G>C (n.314-1132G>C) c.127G>C n.677G>C n.644G>C | |
19 | g.11105433G= | CA2322767462 | LDLR | c.785G= (p.Gly262=) c.527G= (p.Gly176=) c.781G= c.314-1959G= (n.314-1959G=) c.404G= (p.Gly135=) c.314-1132G= (n.314-1132G=) c.127G= n.677G= n.644G= | |
19 | g.11105433G>T | CA10584972 | LDLR | c.785G>T (p.Gly262Val) c.527G>T (p.Gly176Val) c.781G>T c.314-1959G>T (n.314-1959G>T) c.404G>T (p.Gly135Val) c.314-1132G>T (n.314-1132G>T) c.127G>T n.677G>T n.644G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105434C>A | CA505743228 | LDLR | c.786C>A (p.Gly262=) c.528C>A (p.Gly176=) c.782C>A c.314-1958C>A (n.314-1958C>A) c.405C>A (p.Gly135=) c.314-1131C>A (n.314-1131C>A) c.128C>A n.678C>A n.645C>A | |
19 | g.11105434C= | CA2322767463 | LDLR | c.786C= (p.Gly262=) c.528C= (p.Gly176=) c.782C= c.314-1958C= (n.314-1958C=) c.405C= (p.Gly135=) c.314-1131C= (n.314-1131C=) c.128C= n.678C= n.645C= | |
19 | g.11105434C>G | CA505743229 | LDLR | c.786C>G (p.Gly262=) c.528C>G (p.Gly176=) c.782C>G c.314-1958C>G (n.314-1958C>G) c.405C>G (p.Gly135=) c.314-1131C>G (n.314-1131C>G) c.128C>G n.678C>G n.645C>G | |
19 | g.11105434C>T | CA505743230 | LDLR | c.786C>T (p.Gly262=) c.528C>T (p.Gly176=) c.782C>T c.314-1958C>T (n.314-1958C>T) c.405C>T (p.Gly135=) c.314-1131C>T (n.314-1131C>T) c.128C>T n.678C>T n.645C>T | ClinVar dbSNP |
19 | g.11105435T>A | CA404077055 | LDLR | c.787T>A (p.Ser263Thr) c.529T>A (p.Ser177Thr) c.783T>A c.314-1957T>A (n.314-1957T>A) c.406T>A (p.Ser136Thr) c.314-1130T>A (n.314-1130T>A) c.129T>A n.679T>A n.646T>A | |
19 | g.11105435T>C | CA16609805 | LDLR | c.787T>C (p.Ser263Pro) c.529T>C (p.Ser177Pro) c.783T>C c.314-1957T>C (n.314-1957T>C) c.406T>C (p.Ser136Pro) c.314-1130T>C (n.314-1130T>C) c.129T>C n.679T>C n.646T>C | ClinVar dbSNP |
19 | g.11105435T>G | CA404077058 | LDLR | c.787T>G (p.Ser263Ala) c.529T>G (p.Ser177Ala) c.783T>G c.314-1957T>G (n.314-1957T>G) c.406T>G (p.Ser136Ala) c.314-1130T>G (n.314-1130T>G) c.129T>G n.679T>G n.646T>G | |
19 | g.11105435T= | CA2322767464 | LDLR | c.787T= (p.Ser263=) c.529T= (p.Ser177=) c.783T= c.314-1957T= (n.314-1957T=) c.406T= (p.Ser136=) c.314-1130T= (n.314-1130T=) c.129T= n.679T= n.646T= | |
19 | g.11105436C>A | CA404077059 | LDLR | c.788C>A (p.Ser263Ter) c.530C>A (p.Ser177Ter) c.784C>A c.314-1956C>A (n.314-1956C>A) c.407C>A (p.Ser136Ter) c.314-1129C>A (n.314-1129C>A) c.130C>A n.680C>A n.647C>A | |
19 | g.11105436C= | CA2322767465 | LDLR | c.788C= (p.Ser263=) c.530C= (p.Ser177=) c.784C= c.314-1956C= (n.314-1956C=) c.407C= (p.Ser136=) c.314-1129C= (n.314-1129C=) c.130C= n.680C= n.647C= | |
19 | g.11105436C>G | CA404077062 | LDLR | c.788C>G (p.Ser263Trp) c.530C>G (p.Ser177Trp) c.784C>G c.314-1956C>G (n.314-1956C>G) c.407C>G (p.Ser136Trp) c.314-1129C>G (n.314-1129C>G) c.130C>G n.680C>G n.647C>G | ClinVar |
19 | g.11105436C>T | CA023715 | LDLR | c.788C>T (p.Ser263Leu) c.530C>T (p.Ser177Leu) c.784C>T c.314-1956C>T (n.314-1956C>T) c.407C>T (p.Ser136Leu) c.314-1129C>T (n.314-1129C>T) c.130C>T n.680C>T n.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105436_11105437delinsCG | CA2322767466 | LDLR | c.788_789delinsCG (p.Ser263=) c.530_531delinsCG (p.Ser177=) c.784_785delinsCG c.314-1956_314-1955delinsCG (n.314-1956_314-1955delinsCG) c.407_408delinsCG (p.Ser136=) c.314-1129_314-1128delinsCG (n.314-1129_314-1128delinsCG) c.130_131delinsCG n.680_681delinsCG n.647_648delinsCG | |
19 | g.11105437G>A | CA043856 | LDLR | c.789G>A (p.Ser263=) c.531G>A (p.Ser177=) c.785G>A c.314-1955G>A (n.314-1955G>A) c.408G>A (p.Ser136=) c.314-1128G>A (n.314-1128G>A) c.131G>A n.681G>A n.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105437G>C | CA505743235 | LDLR | c.789G>C (p.Ser263=) c.531G>C (p.Ser177=) c.785G>C c.314-1955G>C (n.314-1955G>C) c.408G>C (p.Ser136=) c.314-1128G>C (n.314-1128G>C) c.131G>C n.681G>C n.648G>C | |
19 | g.11105437G= | CA2322767467 | LDLR | c.789G= (p.Ser263=) c.531G= (p.Ser177=) c.785G= c.314-1955G= (n.314-1955G=) c.408G= (p.Ser136=) c.314-1128G= (n.314-1128G=) c.131G= n.681G= n.648G= | |
19 | g.11105437G>T | CA505743236 | LDLR | c.789G>T (p.Ser263=) c.531G>T (p.Ser177=) c.785G>T c.314-1955G>T (n.314-1955G>T) c.408G>T (p.Ser136=) c.314-1128G>T (n.314-1128G>T) c.131G>T n.681G>T n.648G>T | |
19 | g.11105438del | CA645509258 | LDLR | c.790del (p.Asp264MetfsTer28) c.532del (p.Asp178MetfsTer28) c.786del c.314-1954del (n.314-1954del) c.409del (p.Asp137MetfsTer28) c.314-1127del (n.314-1127del) c.132del n.682del n.649del | ClinVar dbSNP |
19 | g.11105438G>A | CA10584973 | LDLR | c.790G>A (p.Asp264Asn) c.532G>A (p.Asp178Asn) c.786G>A c.314-1954G>A (n.314-1954G>A) c.409G>A (p.Asp137Asn) c.314-1127G>A (n.314-1127G>A) c.132G>A n.682G>A n.649G>A | ClinVar dbSNP COSMIC |
19 | g.11105438G>C | CA10584974 | LDLR | c.790G>C (p.Asp264His) c.532G>C (p.Asp178His) c.786G>C c.314-1954G>C (n.314-1954G>C) c.409G>C (p.Asp137His) c.314-1127G>C (n.314-1127G>C) c.132G>C n.682G>C n.649G>C | ClinVar dbSNP |
19 | g.11105438G= | CA2322767468 | LDLR | c.790G= (p.Asp264=) c.532G= (p.Asp178=) c.786G= c.314-1954G= (n.314-1954G=) c.409G= (p.Asp137=) c.314-1127G= (n.314-1127G=) c.132G= n.682G= n.649G= | |
19 | g.11105438G>T | CA10584975 | LDLR | c.790G>T (p.Asp264Tyr) c.532G>T (p.Asp178Tyr) c.786G>T c.314-1954G>T (n.314-1954G>T) c.409G>T (p.Asp137Tyr) c.314-1127G>T (n.314-1127G>T) c.132G>T n.682G>T n.649G>T | ClinVar dbSNP |
19 | g.11105438_11105439insT | CA10584976 | LDLR | c.790_791insT (p.Asp264ValfsTer2) c.532_533insT (p.Asp178ValfsTer2) c.786_787insT c.314-1954_314-1953insT (n.314-1954_314-1953insT) c.409_410insT (p.Asp137ValfsTer2) c.314-1127_314-1126insT (n.314-1127_314-1126insT) c.132_133insT n.682_683insT n.649_650insT | ClinVar dbSNP |
19 | g.11105439A= | CA2322767469 | LDLR | c.791A= (p.Asp264=) c.533A= (p.Asp178=) c.787A= c.314-1953A= (n.314-1953A=) c.410A= (p.Asp137=) c.314-1126A= (n.314-1126A=) c.133A= n.683A= n.650A= | |
19 | g.11105439A>C | CA404077079 | LDLR | c.791A>C (p.Asp264Ala) c.533A>C (p.Asp178Ala) c.787A>C c.314-1953A>C (n.314-1953A>C) c.410A>C (p.Asp137Ala) c.314-1126A>C (n.314-1126A>C) c.133A>C n.683A>C n.650A>C | |
19 | g.11105439A>G | CA10584977 | LDLR | c.791A>G (p.Asp264Gly) c.533A>G (p.Asp178Gly) c.787A>G c.314-1953A>G (n.314-1953A>G) c.410A>G (p.Asp137Gly) c.314-1126A>G (n.314-1126A>G) c.133A>G n.683A>G n.650A>G | ClinVar dbSNP |
19 | g.11105439A>T | CA10576284 | LDLR | c.791A>T (p.Asp264Val) c.533A>T (p.Asp178Val) c.787A>T c.314-1953A>T (n.314-1953A>T) c.410A>T (p.Asp137Val) c.314-1126A>T (n.314-1126A>T) c.133A>T n.683A>T n.650A>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105440T>A | CA404077082 | LDLR | c.792T>A (p.Asp264Glu) c.534T>A (p.Asp178Glu) c.788T>A c.314-1952T>A (n.314-1952T>A) c.411T>A (p.Asp137Glu) c.314-1125T>A (n.314-1125T>A) c.134T>A n.684T>A n.651T>A | |
19 | g.11105440T>C | CA505743240 | LDLR | c.792T>C (p.Asp264=) c.534T>C (p.Asp178=) c.788T>C c.314-1952T>C (n.314-1952T>C) c.411T>C (p.Asp137=) c.314-1125T>C (n.314-1125T>C) c.134T>C n.684T>C n.651T>C | |
19 | g.11105440T>G | CA10584978 | LDLR | c.792T>G (p.Asp264Glu) c.534T>G (p.Asp178Glu) c.788T>G c.314-1952T>G (n.314-1952T>G) c.411T>G (p.Asp137Glu) c.314-1125T>G (n.314-1125T>G) c.134T>G n.684T>G n.651T>G | ClinVar dbSNP |
19 | g.11105440T= | CA2322767470 | LDLR | c.792T= (p.Asp264=) c.534T= (p.Asp178=) c.788T= c.314-1952T= (n.314-1952T=) c.411T= (p.Asp137=) c.314-1125T= (n.314-1125T=) c.134T= n.684T= n.651T= | |
19 | g.11105441G>A | CA10584979 | LDLR | c.793G>A (p.Glu265Lys) c.535G>A (p.Glu179Lys) c.789G>A c.314-1951G>A (n.314-1951G>A) c.412G>A (p.Glu138Lys) c.314-1124G>A (n.314-1124G>A) c.135G>A n.685G>A n.652G>A | ClinVar dbSNP |
19 | g.11105441G>C | CA404077089 | LDLR | c.793G>C (p.Glu265Gln) c.535G>C (p.Glu179Gln) c.789G>C c.314-1951G>C (n.314-1951G>C) c.412G>C (p.Glu138Gln) c.314-1124G>C (n.314-1124G>C) c.135G>C n.685G>C n.652G>C | |
19 | g.11105441G= | CA2322767471 | LDLR | c.793G= (p.Glu265=) c.535G= (p.Glu179=) c.789G= c.314-1951G= (n.314-1951G=) c.412G= (p.Glu138=) c.314-1124G= (n.314-1124G=) c.135G= n.685G= n.652G= | |
19 | g.11105441G>T | CA10584980 | LDLR | c.793G>T (p.Glu265Ter) c.535G>T (p.Glu179Ter) c.789G>T c.314-1951G>T (n.314-1951G>T) c.412G>T (p.Glu138Ter) c.314-1124G>T (n.314-1124G>T) c.135G>T n.685G>T n.652G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105441_11105442insGCTCGGAG | CA645509259 | LDLR | c.793_794insGCTCGGAG (p.Glu265GlyfsTer30) c.535_536insGCTCGGAG (p.Glu179GlyfsTer30) c.789_790insGCTCGGAG c.314-1951_314-1950insGCTCGGAG (n.314-1951_314-1950insGCTCGGAG) c.412_413insGCTCGGAG (p.Glu138GlyfsTer30) c.314-1124_314-1123insGCTCGGAG (n.314-1124_314-1123insGCTCGGAG) c.135_136insGCTCGGAG n.685_686insGCTCGGAG n.652_653insGCTCGGAG | ClinVar dbSNP |
19 | g.11105441_11105442delinsAT | CA2695238655 | LDLR | c.793_794delinsAT (p.Glu265Met) c.535_536delinsAT (p.Glu179Met) c.789_790delinsAT c.314-1951_314-1950delinsAT (n.314-1951_314-1950delinsAT) c.412_413delinsAT (p.Glu138Met) c.314-1124_314-1123delinsAT (n.314-1124_314-1123delinsAT) c.135_136delinsAT n.685_686delinsAT n.652_653delinsAT | ClinVar |
19 | g.11105442A= | CA2322767472 | LDLR | c.794A= (p.Glu265=) c.536A= (p.Glu179=) c.790A= c.314-1950A= (n.314-1950A=) c.413A= (p.Glu138=) c.314-1123A= (n.314-1123A=) c.136A= n.686A= n.653A= | |
19 | g.11105442A>C | CA404077094 | LDLR | c.794A>C (p.Glu265Ala) c.536A>C (p.Glu179Ala) c.790A>C c.314-1950A>C (n.314-1950A>C) c.413A>C (p.Glu138Ala) c.314-1123A>C (n.314-1123A>C) c.136A>C n.686A>C n.653A>C | ClinVar |
19 | g.11105442A>G | CA10584981 | LDLR | c.794A>G (p.Glu265Gly) c.536A>G (p.Glu179Gly) c.790A>G c.314-1950A>G (n.314-1950A>G) c.413A>G (p.Glu138Gly) c.314-1123A>G (n.314-1123A>G) c.136A>G n.686A>G n.653A>G | ClinVar dbSNP |
19 | g.11105442A>T | CA404077096 | LDLR | c.794A>T (p.Glu265Val) c.536A>T (p.Glu179Val) c.790A>T c.314-1950A>T (n.314-1950A>T) c.413A>T (p.Glu138Val) c.314-1123A>T (n.314-1123A>T) c.136A>T n.686A>T n.653A>T | |
19 | g.11105443G>A | CA505743242 | LDLR | c.795G>A (p.Glu265=) c.537G>A (p.Glu179=) c.791G>A c.314-1949G>A (n.314-1949G>A) c.414G>A (p.Glu138=) c.314-1122G>A (n.314-1122G>A) c.137G>A n.687G>A n.654G>A | |
19 | g.11105443G>C | CA404077097 | LDLR | c.795G>C (p.Glu265Asp) c.537G>C (p.Glu179Asp) c.791G>C c.314-1949G>C (n.314-1949G>C) c.414G>C (p.Glu138Asp) c.314-1122G>C (n.314-1122G>C) c.137G>C n.687G>C n.654G>C | gnomAD v4 |
19 | g.11105443G>T | CA404077098 | LDLR | c.795G>T (p.Glu265Asp) c.537G>T (p.Glu179Asp) c.791G>T c.314-1949G>T (n.314-1949G>T) c.414G>T (p.Glu138Asp) c.314-1122G>T (n.314-1122G>T) c.137G>T n.687G>T n.654G>T | |
19 | g.11105444T>A | CA404077103 | LDLR | c.796T>A (p.Trp266Arg) c.538T>A (p.Trp180Arg) c.792T>A c.314-1948T>A (n.314-1948T>A) c.415T>A (p.Trp139Arg) c.314-1121T>A (n.314-1121T>A) c.138T>A n.688T>A n.655T>A | |
19 | g.11105444T>C | CA404077105 | LDLR | c.796T>C (p.Trp266Arg) c.538T>C (p.Trp180Arg) c.792T>C c.314-1948T>C (n.314-1948T>C) c.415T>C (p.Trp139Arg) c.314-1121T>C (n.314-1121T>C) c.138T>C n.688T>C n.655T>C | |
19 | g.11105444T>G | CA404077107 | LDLR | c.796T>G (p.Trp266Gly) c.538T>G (p.Trp180Gly) c.792T>G c.314-1948T>G (n.314-1948T>G) c.415T>G (p.Trp139Gly) c.314-1121T>G (n.314-1121T>G) c.138T>G n.688T>G n.655T>G | |
19 | g.11105445G>A | CA10584982 | LDLR | c.797G>A (p.Trp266Ter) c.539G>A (p.Trp180Ter) c.793G>A c.314-1947G>A (n.314-1947G>A) c.416G>A (p.Trp139Ter) c.314-1120G>A (n.314-1120G>A) c.139G>A n.689G>A n.656G>A | ClinVar dbSNP |
19 | g.11105445G>C | CA404077112 | LDLR | c.797G>C (p.Trp266Ser) c.539G>C (p.Trp180Ser) c.793G>C c.314-1947G>C (n.314-1947G>C) c.416G>C (p.Trp139Ser) c.314-1120G>C (n.314-1120G>C) c.139G>C n.689G>C n.656G>C | |
19 | g.11105445G= | CA2322767473 | LDLR | c.797G= (p.Trp266=) c.539G= (p.Trp180=) c.793G= c.314-1947G= (n.314-1947G=) c.416G= (p.Trp139=) c.314-1120G= (n.314-1120G=) c.139G= n.689G= n.656G= | |
19 | g.11105445G>T | CA404077109 | LDLR | c.797G>T (p.Trp266Leu) c.539G>T (p.Trp180Leu) c.793G>T c.314-1947G>T (n.314-1947G>T) c.416G>T (p.Trp139Leu) c.314-1120G>T (n.314-1120G>T) c.139G>T n.689G>T n.656G>T | gnomAD v4 |
19 | g.11105446G>A | CA404077118 | LDLR | c.798G>A (p.Trp266Ter) c.540G>A (p.Trp180Ter) c.794G>A c.314-1946G>A (n.314-1946G>A) c.417G>A (p.Trp139Ter) c.314-1119G>A (n.314-1119G>A) c.140G>A n.690G>A n.657G>A | |
19 | g.11105446G>C | CA404077115 | LDLR | c.798G>C (p.Trp266Cys) c.540G>C (p.Trp180Cys) c.794G>C c.314-1946G>C (n.314-1946G>C) c.417G>C (p.Trp139Cys) c.314-1119G>C (n.314-1119G>C) c.140G>C n.690G>C n.657G>C | |
19 | g.11105446G>T | CA404077116 | LDLR | c.798G>T (p.Trp266Cys) c.540G>T (p.Trp180Cys) c.794G>T c.314-1946G>T (n.314-1946G>T) c.417G>T (p.Trp139Cys) c.314-1119G>T (n.314-1119G>T) c.140G>T n.690G>T n.657G>T | |
19 | g.11105447C>A | CA404077120 | LDLR | c.799C>A (p.Pro267Thr) c.541C>A (p.Pro181Thr) c.795C>A c.314-1945C>A (n.314-1945C>A) c.418C>A (p.Pro140Thr) c.314-1118C>A (n.314-1118C>A) c.141C>A n.691C>A n.658C>A | |
19 | g.11105447C>G | CA404077122 | LDLR | c.799C>G (p.Pro267Ala) c.541C>G (p.Pro181Ala) c.795C>G c.314-1945C>G (n.314-1945C>G) c.418C>G (p.Pro140Ala) c.314-1118C>G (n.314-1118C>G) c.141C>G n.691C>G n.658C>G | |
19 | g.11105447C>T | CA404077123 | LDLR | c.799C>T (p.Pro267Ser) c.541C>T (p.Pro181Ser) c.795C>T c.314-1945C>T (n.314-1945C>T) c.418C>T (p.Pro140Ser) c.314-1118C>T (n.314-1118C>T) c.141C>T n.691C>T n.658C>T | |
19 | g.11105447_11105448delinsTA | CA2497030119 | LDLR | c.799_800delinsTA (p.Pro267Ter) c.541_542delinsTA (p.Pro181Ter) c.795_796delinsTA c.314-1945_314-1944delinsTA (n.314-1945_314-1944delinsTA) c.418_419delinsTA (p.Pro140Ter) c.314-1118_314-1117delinsTA (n.314-1118_314-1117delinsTA) c.141_142delinsTA n.691_692delinsTA n.658_659delinsTA | |
19 | g.11105448C>A | CA404077130 | LDLR | c.800C>A (p.Pro267Gln) c.542C>A (p.Pro181Gln) c.796C>A c.314-1944C>A (n.314-1944C>A) c.419C>A (p.Pro140Gln) c.314-1117C>A (n.314-1117C>A) c.142C>A n.692C>A n.659C>A | |
19 | g.11105448C= | CA2322767474 | LDLR | c.800C= (p.Pro267=) c.542C= (p.Pro181=) c.796C= c.314-1944C= (n.314-1944C=) c.419C= (p.Pro140=) c.314-1117C= (n.314-1117C=) c.142C= n.692C= n.659C= | |
19 | g.11105448C>G | CA023717 | LDLR | c.800C>G (p.Pro267Arg) c.542C>G (p.Pro181Arg) c.796C>G c.314-1944C>G (n.314-1944C>G) c.419C>G (p.Pro140Arg) c.314-1117C>G (n.314-1117C>G) c.142C>G n.692C>G n.659C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105448C>T | CA305296856 | LDLR | c.800C>T (p.Pro267Leu) c.542C>T (p.Pro181Leu) c.796C>T c.314-1944C>T (n.314-1944C>T) c.419C>T (p.Pro140Leu) c.314-1117C>T (n.314-1117C>T) c.142C>T n.692C>T n.659C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105450_11105471del | CA2830763867 | LDLR | c.802_823del (p.Gln268CysfsTer17) c.544_565del (p.Gln182CysfsTer17) c.798_819del c.314-1942_314-1921del (n.314-1942_314-1921del) c.421_442del (p.Gln141CysfsTer17) c.314-1115_314-1094del (n.314-1115_314-1094del) c.144_165del n.694_715del n.661_682del | |
19 | g.11105449G>A | CA043878 | LDLR | c.801G>A (p.Pro267=) c.543G>A (p.Pro181=) c.797G>A c.314-1943G>A (n.314-1943G>A) c.420G>A (p.Pro140=) c.314-1116G>A (n.314-1116G>A) c.143G>A n.693G>A n.660G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105449G>C | CA505743248 | LDLR | c.801G>C (p.Pro267=) c.543G>C (p.Pro181=) c.797G>C c.314-1943G>C (n.314-1943G>C) c.420G>C (p.Pro140=) c.314-1116G>C (n.314-1116G>C) c.143G>C n.693G>C n.660G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105449G= | CA2322767475 | LDLR | c.801G= (p.Pro267=) c.543G= (p.Pro181=) c.797G= c.314-1943G= (n.314-1943G=) c.420G= (p.Pro140=) c.314-1116G= (n.314-1116G=) c.143G= n.693G= n.660G= | |
19 | g.11105449G>T | CA043886 | LDLR | c.801G>T (p.Pro267=) c.543G>T (p.Pro181=) c.797G>T c.314-1943G>T (n.314-1943G>T) c.420G>T (p.Pro140=) c.314-1116G>T (n.314-1116G>T) c.143G>T n.693G>T n.660G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105450C>A | CA404077139 | LDLR | c.802C>A (p.Gln268Lys) c.544C>A (p.Gln182Lys) c.798C>A c.314-1942C>A (n.314-1942C>A) c.421C>A (p.Gln141Lys) c.314-1115C>A (n.314-1115C>A) c.144C>A n.694C>A n.661C>A | |
19 | g.11105450C= | CA2322767476 | LDLR | c.802C= (p.Gln268=) c.544C= (p.Gln182=) c.798C= c.314-1942C= (n.314-1942C=) c.421C= (p.Gln141=) c.314-1115C= (n.314-1115C=) c.144C= n.694C= n.661C= | |
19 | g.11105450C>G | CA404077142 | LDLR | c.802C>G (p.Gln268Glu) c.544C>G (p.Gln182Glu) c.798C>G c.314-1942C>G (n.314-1942C>G) c.421C>G (p.Gln141Glu) c.314-1115C>G (n.314-1115C>G) c.144C>G n.694C>G n.661C>G | |
19 | g.11105450C>T | CA10584983 | LDLR | c.802C>T (p.Gln268Ter) c.544C>T (p.Gln182Ter) c.798C>T c.314-1942C>T (n.314-1942C>T) c.421C>T (p.Gln141Ter) c.314-1115C>T (n.314-1115C>T) c.144C>T n.694C>T n.661C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105450delinsGCCCAAT | CA2497030120 | LDLR | c.802delinsGCCCAAT (p.Gln268AlafsTer3) c.544delinsGCCCAAT (p.Gln182AlafsTer3) c.798delinsGCCCAAT c.314-1942delinsGCCCAAT (n.314-1942delinsGCCCAAT) c.421delinsGCCCAAT (p.Gln141AlafsTer3) c.314-1115delinsGCCCAAT (n.314-1115delinsGCCCAAT) c.144delinsGCCCAAT n.694delinsGCCCAAT n.661delinsGCCCAAT |