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.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | CA2322767386 | LDLR | c.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=) c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=) c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=) c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | |
19 | g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | CA2322767387 | LDLR | c.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=) c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=) c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=) c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | |
19 | g.11105348_11105410del | CA16602300 | LDLR | c.700_762del (p.Cys234_Asp254del) c.442_504del (p.Cys148_Asp168del) c.696_758del c.314-2044_314-1982del (n.314-2044_314-1982del) c.319_381del (p.Cys107_Asp127del) c.314-1217_314-1155del (n.314-1217_314-1155del) c.42_104del n.592_654del n.559_621del | ClinVar dbSNP |
19 | g.11105348_11105410delinsA | CA645373223 | LDLR | c.700_762delinsA (p.Cys234LysfsTer11) c.442_504delinsA (p.Cys148LysfsTer11) c.696_758delinsA c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA) c.319_381delinsA (p.Cys107LysfsTer11) c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA) c.42_104delinsA n.592_654delinsA n.559_621delinsA | ClinVar dbSNP |
19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
19 | g.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.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 | |
19 | g.11105451A= | CA2322767477 | LDLR | c.803A= (p.Gln268=) c.545A= (p.Gln182=) c.799A= c.314-1941A= (n.314-1941A=) c.422A= (p.Gln141=) c.314-1114A= (n.314-1114A=) c.145A= n.695A= n.662A= | |
19 | g.11105451A>C | CA404077151 | LDLR | c.803A>C (p.Gln268Pro) c.545A>C (p.Gln182Pro) c.799A>C c.314-1941A>C (n.314-1941A>C) c.422A>C (p.Gln141Pro) c.314-1114A>C (n.314-1114A>C) c.145A>C n.695A>C n.662A>C | |
19 | g.11105451A>G | CA023719 | LDLR | c.803A>G (p.Gln268Arg) c.545A>G (p.Gln182Arg) c.799A>G c.314-1941A>G (n.314-1941A>G) c.422A>G (p.Gln141Arg) c.314-1114A>G (n.314-1114A>G) c.145A>G n.695A>G n.662A>G | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11105451A>T | CA404077154 | LDLR | c.803A>T (p.Gln268Leu) c.545A>T (p.Gln182Leu) c.799A>T c.314-1941A>T (n.314-1941A>T) c.422A>T (p.Gln141Leu) c.314-1114A>T (n.314-1114A>T) c.145A>T n.695A>T n.662A>T | |
19 | g.11105452G>A | CA505743251 | LDLR | c.804G>A (p.Gln268=) c.546G>A (p.Gln182=) c.800G>A c.314-1940G>A (n.314-1940G>A) c.423G>A (p.Gln141=) c.314-1113G>A (n.314-1113G>A) c.146G>A n.696G>A n.663G>A | |
19 | g.11105452G>C | CA404077160 | LDLR | c.804G>C (p.Gln268His) c.546G>C (p.Gln182His) c.800G>C c.314-1940G>C (n.314-1940G>C) c.423G>C (p.Gln141His) c.314-1113G>C (n.314-1113G>C) c.146G>C n.696G>C n.663G>C | |
19 | g.11105452G>T | CA404077164 | LDLR | c.804G>T (p.Gln268His) c.546G>T (p.Gln182His) c.800G>T c.314-1940G>T (n.314-1940G>T) c.423G>T (p.Gln141His) c.314-1113G>T (n.314-1113G>T) c.146G>T n.696G>T n.663G>T | |
19 | g.11105453C>A | CA404077170 | LDLR | c.805C>A (p.Arg269Ser) c.547C>A (p.Arg183Ser) c.801C>A c.314-1939C>A (n.314-1939C>A) c.424C>A (p.Arg142Ser) c.314-1112C>A (n.314-1112C>A) c.147C>A n.697C>A n.664C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105453C= | CA2322767478 | LDLR | c.805C= (p.Arg269=) c.547C= (p.Arg183=) c.801C= c.314-1939C= (n.314-1939C=) c.424C= (p.Arg142=) c.314-1112C= (n.314-1112C=) c.147C= n.697C= n.664C= | |
19 | g.11105453C>G | CA404077173 | LDLR | c.805C>G (p.Arg269Gly) c.547C>G (p.Arg183Gly) c.801C>G c.314-1939C>G (n.314-1939C>G) c.424C>G (p.Arg142Gly) c.314-1112C>G (n.314-1112C>G) c.147C>G n.697C>G n.664C>G | |
19 | g.11105453C>T | CA305296860 | LDLR | c.805C>T (p.Arg269Cys) c.547C>T (p.Arg183Cys) c.801C>T c.314-1939C>T (n.314-1939C>T) c.424C>T (p.Arg142Cys) c.314-1112C>T (n.314-1112C>T) c.147C>T n.697C>T n.664C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105454G>A | CA043915 | LDLR | c.806G>A (p.Arg269His) c.548G>A (p.Arg183His) c.802G>A c.314-1938G>A (n.314-1938G>A) c.425G>A (p.Arg142His) c.314-1111G>A (n.314-1111G>A) c.148G>A n.698G>A n.665G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105454G>C | CA404077183 | LDLR | c.806G>C (p.Arg269Pro) c.548G>C (p.Arg183Pro) c.802G>C c.314-1938G>C (n.314-1938G>C) c.425G>C (p.Arg142Pro) c.314-1111G>C (n.314-1111G>C) c.148G>C n.698G>C n.665G>C | |
19 | g.11105454G= | CA2322767479 | LDLR | c.806G= (p.Arg269=) c.548G= (p.Arg183=) c.802G= c.314-1938G= (n.314-1938G=) c.425G= (p.Arg142=) c.314-1111G= (n.314-1111G=) c.148G= n.698G= n.665G= | |
19 | g.11105454G>T | CA404077191 | LDLR | c.806G>T (p.Arg269Leu) c.548G>T (p.Arg183Leu) c.802G>T c.314-1938G>T (n.314-1938G>T) c.425G>T (p.Arg142Leu) c.314-1111G>T (n.314-1111G>T) c.148G>T n.698G>T n.665G>T | |
19 | g.11105455C>A | CA505743256 | LDLR | c.807C>A (p.Arg269=) c.549C>A (p.Arg183=) c.803C>A c.314-1937C>A (n.314-1937C>A) c.426C>A (p.Arg142=) c.314-1110C>A (n.314-1110C>A) c.149C>A n.699C>A n.666C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105455C= | CA2322767480 | LDLR | c.807C= (p.Arg269=) c.549C= (p.Arg183=) c.803C= c.314-1937C= (n.314-1937C=) c.426C= (p.Arg142=) c.314-1110C= (n.314-1110C=) c.149C= n.699C= n.666C= | |
19 | g.11105455C>G | CA505743258 | LDLR | c.807C>G (p.Arg269=) c.549C>G (p.Arg183=) c.803C>G c.314-1937C>G (n.314-1937C>G) c.426C>G (p.Arg142=) c.314-1110C>G (n.314-1110C>G) c.149C>G n.699C>G n.666C>G | gnomAD v4 |
19 | g.11105455C>T | CA505743261 | LDLR | c.807C>T (p.Arg269=) c.549C>T (p.Arg183=) c.803C>T c.314-1937C>T (n.314-1937C>T) c.426C>T (p.Arg142=) c.314-1110C>T (n.314-1110C>T) c.149C>T n.699C>T n.666C>T | gnomAD v4 |
19 | g.11105456T>A | CA404077193 | LDLR | c.808T>A (p.Cys270Ser) c.550T>A (p.Cys184Ser) c.804T>A c.314-1936T>A (n.314-1936T>A) c.427T>A (p.Cys143Ser) c.314-1109T>A (n.314-1109T>A) c.150T>A n.700T>A n.667T>A | |
19 | g.11105456T>C | CA10584984 | LDLR | c.808T>C (p.Cys270Arg) c.550T>C (p.Cys184Arg) c.804T>C c.314-1936T>C (n.314-1936T>C) c.427T>C (p.Cys143Arg) c.314-1109T>C (n.314-1109T>C) c.150T>C n.700T>C n.667T>C | ClinVar dbSNP |
19 | g.11105456T>G | CA404077201 | LDLR | c.808T>G (p.Cys270Gly) c.550T>G (p.Cys184Gly) c.804T>G c.314-1936T>G (n.314-1936T>G) c.427T>G (p.Cys143Gly) c.314-1109T>G (n.314-1109T>G) c.150T>G n.700T>G n.667T>G | |
19 | g.11105456T= | CA2322767481 | LDLR | c.808T= (p.Cys270=) c.550T= (p.Cys184=) c.804T= c.314-1936T= (n.314-1936T=) c.427T= (p.Cys143=) c.314-1109T= (n.314-1109T=) c.150T= n.700T= n.667T= | |
19 | g.11105457G>A | CA023721 | LDLR | c.809G>A (p.Cys270Tyr) c.551G>A (p.Cys184Tyr) c.805G>A c.314-1935G>A (n.314-1935G>A) c.428G>A (p.Cys143Tyr) c.314-1108G>A (n.314-1108G>A) c.151G>A n.701G>A n.668G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105457G>C | CA404077216 | LDLR | c.809G>C (p.Cys270Ser) c.551G>C (p.Cys184Ser) c.805G>C c.314-1935G>C (n.314-1935G>C) c.428G>C (p.Cys143Ser) c.314-1108G>C (n.314-1108G>C) c.151G>C n.701G>C n.668G>C | ClinVar dbSNP |
19 | g.11105457G= | CA2322767482 | LDLR | c.809G= (p.Cys270=) c.551G= (p.Cys184=) c.805G= c.314-1935G= (n.314-1935G=) c.428G= (p.Cys143=) c.314-1108G= (n.314-1108G=) c.151G= n.701G= n.668G= | |
19 | g.11105457G>T | CA404077206 | LDLR | c.809G>T (p.Cys270Phe) c.551G>T (p.Cys184Phe) c.805G>T c.314-1935G>T (n.314-1935G>T) c.428G>T (p.Cys143Phe) c.314-1108G>T (n.314-1108G>T) c.151G>T n.701G>T n.668G>T | |
19 | g.11105457_11105459delinsTT | CA2573050575 | LDLR | c.809_811delinsTT (p.Cys270PhefsTer22) c.551_553delinsTT (p.Cys184PhefsTer22) c.805_807delinsTT c.314-1935_314-1933delinsTT (n.314-1935_314-1933delinsTT) c.428_430delinsTT (p.Cys143PhefsTer22) c.314-1108_314-1106delinsTT (n.314-1108_314-1106delinsTT) c.151_153delinsTT n.701_703delinsTT n.668_670delinsTT | |
19 | g.11105458T>A | CA404077219 | LDLR | c.810T>A (p.Cys270Ter) c.552T>A (p.Cys184Ter) c.806T>A c.314-1934T>A (n.314-1934T>A) c.429T>A (p.Cys143Ter) c.314-1107T>A (n.314-1107T>A) c.152T>A n.702T>A n.669T>A | |
19 | g.11105458T>C | CA505743364 | LDLR | c.810T>C (p.Cys270=) c.552T>C (p.Cys184=) c.806T>C c.314-1934T>C (n.314-1934T>C) c.429T>C (p.Cys143=) c.314-1107T>C (n.314-1107T>C) c.152T>C n.702T>C n.669T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105458T>G | CA10584985 | LDLR | c.810T>G (p.Cys270Trp) c.552T>G (p.Cys184Trp) c.806T>G c.314-1934T>G (n.314-1934T>G) c.429T>G (p.Cys143Trp) c.314-1107T>G (n.314-1107T>G) c.152T>G n.702T>G n.669T>G | ClinVar dbSNP |
19 | g.11105458T= | CA2322767483 | LDLR | c.810T= (p.Cys270=) c.552T= (p.Cys184=) c.806T= c.314-1934T= (n.314-1934T=) c.429T= (p.Cys143=) c.314-1107T= (n.314-1107T=) c.152T= n.702T= n.669T= | |
19 | g.11105459A>C | CA505743365 | LDLR | c.811A>C (p.Arg271=) c.553A>C (p.Arg185=) c.807A>C c.314-1933A>C (n.314-1933A>C) c.430A>C (p.Arg144=) c.314-1106A>C (n.314-1106A>C) c.153A>C n.703A>C n.670A>C | |
19 | g.11105459A>G | CA404077225 | LDLR | c.811A>G (p.Arg271Gly) c.553A>G (p.Arg185Gly) c.807A>G c.314-1933A>G (n.314-1933A>G) c.430A>G (p.Arg144Gly) c.314-1106A>G (n.314-1106A>G) c.153A>G n.703A>G n.670A>G | gnomAD v4 |
19 | g.11105459A>T | CA404077229 | LDLR | c.811A>T (p.Arg271Trp) c.553A>T (p.Arg185Trp) c.807A>T c.314-1933A>T (n.314-1933A>T) c.430A>T (p.Arg144Trp) c.314-1106A>T (n.314-1106A>T) c.153A>T n.703A>T n.670A>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105459_11105460delinsAG | CA2322767484 | LDLR | c.811_812delinsAG (p.Arg271=) c.553_554delinsAG (p.Arg185=) c.807_808delinsAG c.314-1933_314-1932delinsAG (n.314-1933_314-1932delinsAG) c.430_431delinsAG (p.Arg144=) c.314-1106_314-1105delinsAG (n.314-1106_314-1105delinsAG) c.153_154delinsAG n.703_704delinsAG n.670_671delinsAG | |
19 | g.11105460G>A | CA404077242 | LDLR | c.812G>A (p.Arg271Lys) c.554G>A (p.Arg185Lys) c.808G>A c.314-1932G>A (n.314-1932G>A) c.431G>A (p.Arg144Lys) c.314-1105G>A (n.314-1105G>A) c.154G>A n.704G>A n.671G>A | |
19 | g.11105460G>C | CA404077245 | LDLR | c.812G>C (p.Arg271Thr) c.554G>C (p.Arg185Thr) c.808G>C c.314-1932G>C (n.314-1932G>C) c.431G>C (p.Arg144Thr) c.314-1105G>C (n.314-1105G>C) c.154G>C n.704G>C n.671G>C | gnomAD v4 |
19 | g.11105460G>T | CA404077238 | LDLR | c.812G>T (p.Arg271Met) c.554G>T (p.Arg185Met) c.808G>T c.314-1932G>T (n.314-1932G>T) c.431G>T (p.Arg144Met) c.314-1105G>T (n.314-1105G>T) c.154G>T n.704G>T n.671G>T | |
19 | g.11105463dup | CA645509260 | LDLR | c.815dup (p.Leu273SerfsTer9) c.557dup (p.Leu187SerfsTer9) c.811dup c.314-1929dup (n.314-1929dup) c.434dup (p.Leu146SerfsTer9) c.314-1102dup (n.314-1102dup) c.157dup n.707dup n.674dup | ClinVar dbSNP |
19 | g.11105463del | CA10584986 | LDLR | c.815del (p.Gly272ValfsTer20) c.557del (p.Gly186ValfsTer20) c.811del c.314-1929del (n.314-1929del) c.434del (p.Gly145ValfsTer20) c.314-1102del (n.314-1102del) c.157del n.707del n.674del | ClinVar dbSNP |
19 | g.11105461G>A | CA505743370 | LDLR | c.813G>A (p.Arg271=) c.555G>A (p.Arg185=) c.809G>A c.314-1931G>A (n.314-1931G>A) c.432G>A (p.Arg144=) c.314-1104G>A (n.314-1104G>A) c.155G>A n.705G>A n.672G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105461G>C | CA404077250 | LDLR | c.813G>C (p.Arg271Ser) c.555G>C (p.Arg185Ser) c.809G>C c.314-1931G>C (n.314-1931G>C) c.432G>C (p.Arg144Ser) c.314-1104G>C (n.314-1104G>C) c.155G>C n.705G>C n.672G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105461G= | CA2322767485 | LDLR | c.813G= (p.Arg271=) c.555G= (p.Arg185=) c.809G= c.314-1931G= (n.314-1931G=) c.432G= (p.Arg144=) c.314-1104G= (n.314-1104G=) c.155G= n.705G= n.672G= | |
19 | g.11105461G>T | CA404077255 | LDLR | c.813G>T (p.Arg271Ser) c.555G>T (p.Arg185Ser) c.809G>T c.314-1931G>T (n.314-1931G>T) c.432G>T (p.Arg144Ser) c.314-1104G>T (n.314-1104G>T) c.155G>T n.705G>T n.672G>T | |
19 | g.11105462G>A | CA404077257 | LDLR | c.814G>A (p.Gly272Ser) c.556G>A (p.Gly186Ser) c.810G>A c.314-1930G>A (n.314-1930G>A) c.433G>A (p.Gly145Ser) c.314-1103G>A (n.314-1103G>A) c.156G>A n.706G>A n.673G>A | gnomAD v4 |
19 | g.11105462G>C | CA404077259 | LDLR | c.814G>C (p.Gly272Arg) c.556G>C (p.Gly186Arg) c.810G>C c.314-1930G>C (n.314-1930G>C) c.433G>C (p.Gly145Arg) c.314-1103G>C (n.314-1103G>C) c.156G>C n.706G>C n.673G>C | |
19 | g.11105462G>T | CA404077261 | LDLR | c.814G>T (p.Gly272Cys) c.556G>T (p.Gly186Cys) c.810G>T c.314-1930G>T (n.314-1930G>T) c.433G>T (p.Gly145Cys) c.314-1103G>T (n.314-1103G>T) c.156G>T n.706G>T n.673G>T | |
19 | g.11105463G>A | CA404077265 | LDLR | c.815G>A (p.Gly272Asp) c.557G>A (p.Gly186Asp) c.811G>A c.314-1929G>A (n.314-1929G>A) c.434G>A (p.Gly145Asp) c.314-1102G>A (n.314-1102G>A) c.157G>A n.707G>A n.674G>A | |
19 | g.11105463G>C | CA404077268 | LDLR | c.815G>C (p.Gly272Ala) c.557G>C (p.Gly186Ala) c.811G>C c.314-1929G>C (n.314-1929G>C) c.434G>C (p.Gly145Ala) c.314-1102G>C (n.314-1102G>C) c.157G>C n.707G>C n.674G>C | |
19 | g.11105463G>T | CA404077285 | LDLR | c.815G>T (p.Gly272Val) c.557G>T (p.Gly186Val) c.811G>T c.314-1929G>T (n.314-1929G>T) c.434G>T (p.Gly145Val) c.314-1102G>T (n.314-1102G>T) c.157G>T n.707G>T n.674G>T | |
19 | g.11105463_11105474delinsGTCTTTACGTGT | CA2322767486 | LDLR | c.815_826delinsGTCTTTACGTGT (p.Gly272=) c.557_568delinsGTCTTTACGTGT (p.Gly186=) c.811_822delinsGTCTTTACGTGT c.314-1929_314-1918delinsGTCTTTACGTGT (n.314-1929_314-1918delinsGTCTTTACGTGT) c.434_445delinsGTCTTTACGTGT (p.Gly145=) c.314-1102_314-1091delinsGTCTTTACGTGT (n.314-1102_314-1091delinsGTCTTTACGTGT) c.157_168delinsGTCTTTACGTGT n.707_718delinsGTCTTTACGTGT n.674_685delinsGTCTTTACGTGT | |
19 | g.11105464T>A | CA505743376 | LDLR | c.816T>A (p.Gly272=) c.558T>A (p.Gly186=) c.812T>A c.314-1928T>A (n.314-1928T>A) c.435T>A (p.Gly145=) c.314-1101T>A (n.314-1101T>A) c.158T>A n.708T>A n.675T>A | |
19 | g.11105464T>C | CA505743374 | LDLR | c.816T>C (p.Gly272=) c.558T>C (p.Gly186=) c.812T>C c.314-1928T>C (n.314-1928T>C) c.435T>C (p.Gly145=) c.314-1101T>C (n.314-1101T>C) c.158T>C n.708T>C n.675T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105464T>G | CA505743375 | LDLR | c.816T>G (p.Gly272=) c.558T>G (p.Gly186=) c.812T>G c.314-1928T>G (n.314-1928T>G) c.435T>G (p.Gly145=) c.314-1101T>G (n.314-1101T>G) c.158T>G n.708T>G n.675T>G | |
19 | g.11105464T= | CA2322767487 | LDLR | c.816T= (p.Gly272=) c.558T= (p.Gly186=) c.812T= c.314-1928T= (n.314-1928T=) c.435T= (p.Gly145=) c.314-1101T= (n.314-1101T=) c.158T= n.708T= n.675T= | |
19 | g.11105465_11105468dup | CA2695238654 | LDLR | c.817_820dup (p.Tyr274SerfsTer9) c.559_562dup (p.Tyr188SerfsTer9) c.813_816dup c.314-1927_314-1924dup (n.314-1927_314-1924dup) c.436_439dup (p.Tyr147SerfsTer9) c.314-1100_314-1097dup (n.314-1100_314-1097dup) c.159_162dup n.709_712dup n.676_679dup | |
19 | g.11105466_11105476del | CA1139666250 | LDLR | c.818_828del (p.Leu273ProfsTer5) c.560_570del (p.Leu187ProfsTer5) c.814_824del c.314-1926_314-1916del (n.314-1926_314-1916del) c.437_447del (p.Leu146ProfsTer5) c.314-1099_314-1089del (n.314-1099_314-1089del) c.160_170del n.710_720del n.677_687del | ClinVar dbSNP |
19 | g.11105464_11105465insG | CA10584987 | LDLR | c.816_817insG (p.Leu273AlafsTer9) c.558_559insG (p.Leu187AlafsTer9) c.812_813insG c.314-1928_314-1927insG (n.314-1928_314-1927insG) c.435_436insG (p.Leu146AlafsTer9) c.314-1101_314-1100insG (n.314-1101_314-1100insG) c.158_159insG n.708_709insG n.675_676insG | ClinVar dbSNP |
19 | g.11105465C>A | CA404077299 | LDLR | c.817C>A (p.Leu273Ile) c.559C>A (p.Leu187Ile) c.813C>A c.314-1927C>A (n.314-1927C>A) c.436C>A (p.Leu146Ile) c.314-1100C>A (n.314-1100C>A) c.159C>A n.709C>A n.676C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105465C= | CA2322767489 | LDLR | c.817C= (p.Leu273=) c.559C= (p.Leu187=) c.813C= c.314-1927C= (n.314-1927C=) c.436C= (p.Leu146=) c.314-1100C= (n.314-1100C=) c.159C= n.709C= n.676C= | |
19 | g.11105465C>G | CA404077295 | LDLR | c.817C>G (p.Leu273Val) c.559C>G (p.Leu187Val) c.813C>G c.314-1927C>G (n.314-1927C>G) c.436C>G (p.Leu146Val) c.314-1100C>G (n.314-1100C>G) c.159C>G n.709C>G n.676C>G | |
19 | g.11105465C>T | CA404077291 | LDLR | c.817C>T (p.Leu273Phe) c.559C>T (p.Leu187Phe) c.813C>T c.314-1927C>T (n.314-1927C>T) c.436C>T (p.Leu146Phe) c.314-1100C>T (n.314-1100C>T) c.159C>T n.709C>T n.676C>T | |
19 | g.11105465_11105467delinsCTT | CA2322767488 | LDLR | c.817_819delinsCTT (p.Leu273=) c.559_561delinsCTT (p.Leu187=) c.813_815delinsCTT c.314-1927_314-1925delinsCTT (n.314-1927_314-1925delinsCTT) c.436_438delinsCTT (p.Leu146=) c.314-1100_314-1098delinsCTT (n.314-1100_314-1098delinsCTT) c.159_161delinsCTT n.709_711delinsCTT n.676_678delinsCTT | |
19 | g.11105466T>A | CA404077309 | LDLR | c.818T>A (p.Leu273His) c.560T>A (p.Leu187His) c.814T>A c.314-1926T>A (n.314-1926T>A) c.437T>A (p.Leu146His) c.314-1099T>A (n.314-1099T>A) c.160T>A n.710T>A n.677T>A | |
19 | g.11105466T>C | CA404077313 | LDLR | c.818T>C (p.Leu273Pro) c.560T>C (p.Leu187Pro) c.814T>C c.314-1926T>C (n.314-1926T>C) c.437T>C (p.Leu146Pro) c.314-1099T>C (n.314-1099T>C) c.160T>C n.710T>C n.677T>C | |
19 | g.11105466T>G | CA404077314 | LDLR | c.818T>G (p.Leu273Arg) c.560T>G (p.Leu187Arg) c.814T>G c.314-1926T>G (n.314-1926T>G) c.437T>G (p.Leu146Arg) c.314-1099T>G (n.314-1099T>G) c.160T>G n.710T>G n.677T>G | |
19 | g.11105468del | CA10584989 | LDLR | c.820del (p.Tyr274ThrfsTer18) c.562del (p.Tyr188ThrfsTer18) c.816del c.314-1924del (n.314-1924del) c.439del (p.Tyr147ThrfsTer18) c.314-1097del (n.314-1097del) c.162del n.712del n.679del | ClinVar dbSNP gnomAD v4 |
19 | g.11105467_11105468del | CA10584988 | LDLR | c.819_820del (p.Tyr274ArgfsTer7) c.561_562del (p.Tyr188ArgfsTer7) c.815_816del c.314-1925_314-1924del (n.314-1925_314-1924del) c.438_439del (p.Tyr147ArgfsTer7) c.314-1098_314-1097del (n.314-1098_314-1097del) c.161_162del n.711_712del n.678_679del | ClinVar dbSNP |
19 | g.11105467T>A | CA505743379 | LDLR | c.819T>A (p.Leu273=) c.561T>A (p.Leu187=) c.815T>A c.314-1925T>A (n.314-1925T>A) c.438T>A (p.Leu146=) c.314-1098T>A (n.314-1098T>A) c.161T>A n.711T>A n.678T>A | |
19 | g.11105467T>C | CA505743380 | LDLR | c.819T>C (p.Leu273=) c.561T>C (p.Leu187=) c.815T>C c.314-1925T>C (n.314-1925T>C) c.438T>C (p.Leu146=) c.314-1098T>C (n.314-1098T>C) c.161T>C n.711T>C n.678T>C | |
19 | g.11105467T>G | CA505743381 | LDLR | c.819T>G (p.Leu273=) c.561T>G (p.Leu187=) c.815T>G c.314-1925T>G (n.314-1925T>G) c.438T>G (p.Leu146=) c.314-1098T>G (n.314-1098T>G) c.161T>G n.711T>G n.678T>G | |
19 | g.11105469_11105475del | CA2497030121 | LDLR | c.821_827del (p.Tyr274SerfsTer16) c.563_569del (p.Tyr188SerfsTer16) c.817_823del c.314-1923_314-1917del (n.314-1923_314-1917del) c.440_446del (p.Tyr147SerfsTer16) c.314-1096_314-1090del (n.314-1096_314-1090del) c.163_169del n.713_719del n.680_686del | |
19 | g.11105468T>A | CA404077322 | LDLR | c.820T>A (p.Tyr274Asn) c.562T>A (p.Tyr188Asn) c.816T>A c.314-1924T>A (n.314-1924T>A) c.439T>A (p.Tyr147Asn) c.314-1097T>A (n.314-1097T>A) c.162T>A n.712T>A n.679T>A | |
19 | g.11105468T>C | CA404077324 | LDLR | c.820T>C (p.Tyr274His) c.562T>C (p.Tyr188His) c.816T>C c.314-1924T>C (n.314-1924T>C) c.439T>C (p.Tyr147His) c.314-1097T>C (n.314-1097T>C) c.162T>C n.712T>C n.679T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105468T>G | CA043935 | LDLR | c.820T>G (p.Tyr274Asp) c.562T>G (p.Tyr188Asp) c.816T>G c.314-1924T>G (n.314-1924T>G) c.439T>G (p.Tyr147Asp) c.314-1097T>G (n.314-1097T>G) c.162T>G n.712T>G n.679T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105468T= | CA2322767490 | LDLR | c.820T= (p.Tyr274=) c.562T= (p.Tyr188=) c.816T= c.314-1924T= (n.314-1924T=) c.439T= (p.Tyr147=) c.314-1097T= (n.314-1097T=) c.162T= n.712T= n.679T= | |
19 | g.11105469del | CA2497030122 | LDLR | c.821del (p.Tyr274SerfsTer18) c.563del (p.Tyr188SerfsTer18) c.817del c.314-1923del (n.314-1923del) c.440del (p.Tyr147SerfsTer18) c.314-1096del (n.314-1096del) c.163del n.713del n.680del | |
19 | g.11105469A= | CA2322767491 | LDLR | c.821A= (p.Tyr274=) c.563A= (p.Tyr188=) c.817A= c.314-1923A= (n.314-1923A=) c.440A= (p.Tyr147=) c.314-1096A= (n.314-1096A=) c.163A= n.713A= n.680A= | |
19 | g.11105469A>C | CA404077330 | LDLR | c.821A>C (p.Tyr274Ser) c.563A>C (p.Tyr188Ser) c.817A>C c.314-1923A>C (n.314-1923A>C) c.440A>C (p.Tyr147Ser) c.314-1096A>C (n.314-1096A>C) c.163A>C n.713A>C n.680A>C | dbSNP |
19 | g.11105469A>G | CA404077332 | LDLR | c.821A>G (p.Tyr274Cys) c.563A>G (p.Tyr188Cys) c.817A>G c.314-1923A>G (n.314-1923A>G) c.440A>G (p.Tyr147Cys) c.314-1096A>G (n.314-1096A>G) c.163A>G n.713A>G n.680A>G | |
19 | g.11105469A>T | CA404077335 | LDLR | c.821A>T (p.Tyr274Phe) c.563A>T (p.Tyr188Phe) c.817A>T c.314-1923A>T (n.314-1923A>T) c.440A>T (p.Tyr147Phe) c.314-1096A>T (n.314-1096A>T) c.163A>T n.713A>T n.680A>T | |
19 | g.11105470C>A | CA10584990 | LDLR | c.822C>A (p.Tyr274Ter) c.564C>A (p.Tyr188Ter) c.818C>A c.314-1922C>A (n.314-1922C>A) c.441C>A (p.Tyr147Ter) c.314-1095C>A (n.314-1095C>A) c.164C>A n.714C>A n.681C>A | ClinVar dbSNP |
19 | g.11105470C= | CA2322767492 | LDLR | c.822C= (p.Tyr274=) c.564C= (p.Tyr188=) c.818C= c.314-1922C= (n.314-1922C=) c.441C= (p.Tyr147=) c.314-1095C= (n.314-1095C=) c.164C= n.714C= n.681C= | |
19 | g.11105470C>G | CA023723 | LDLR | c.822C>G (p.Tyr274Ter) c.564C>G (p.Tyr188Ter) c.818C>G c.314-1922C>G (n.314-1922C>G) c.441C>G (p.Tyr147Ter) c.314-1095C>G (n.314-1095C>G) c.164C>G n.714C>G n.681C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105470C>T | CA043947 | LDLR | c.822C>T (p.Tyr274=) c.564C>T (p.Tyr188=) c.818C>T c.314-1922C>T (n.314-1922C>T) c.441C>T (p.Tyr147=) c.314-1095C>T (n.314-1095C>T) c.164C>T n.714C>T n.681C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105470_11105471delinsCG | CA2322767494 | LDLR | c.822_823delinsCG (p.Tyr274=) c.564_565delinsCG (p.Tyr188=) c.818_819delinsCG c.314-1922_314-1921delinsCG (n.314-1922_314-1921delinsCG) c.441_442delinsCG (p.Tyr147=) c.314-1095_314-1094delinsCG (n.314-1095_314-1094delinsCG) c.164_165delinsCG n.714_715delinsCG n.681_682delinsCG | |
19 | g.11105470_11105474delinsCGTGT | CA2322767493 | LDLR | c.822_826delinsCGTGT (p.Tyr274=) c.564_568delinsCGTGT (p.Tyr188=) c.818_822delinsCGTGT c.314-1922_314-1918delinsCGTGT (n.314-1922_314-1918delinsCGTGT) c.441_445delinsCGTGT (p.Tyr147=) c.314-1095_314-1091delinsCGTGT (n.314-1095_314-1091delinsCGTGT) c.164_168delinsCGTGT n.714_718delinsCGTGT n.681_685delinsCGTGT | |
19 | g.11105471del | CA645509261 | LDLR | c.823del (p.Val275CysfsTer17) c.565del (p.Val189CysfsTer17) c.819del c.314-1921del (n.314-1921del) c.442del (p.Val148CysfsTer17) c.314-1094del (n.314-1094del) c.165del n.715del n.682del | ClinVar dbSNP |
19 | g.11105471G>A | CA10584991 | LDLR | c.823G>A (p.Val275Met) c.565G>A (p.Val189Met) c.819G>A c.314-1921G>A (n.314-1921G>A) c.442G>A (p.Val148Met) c.314-1094G>A (n.314-1094G>A) c.165G>A n.715G>A n.682G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105471G>C | CA043955 | LDLR | c.823G>C (p.Val275Leu) c.565G>C (p.Val189Leu) c.819G>C c.314-1921G>C (n.314-1921G>C) c.442G>C (p.Val148Leu) c.314-1094G>C (n.314-1094G>C) c.165G>C n.715G>C n.682G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105471G= | CA2322767496 | LDLR | c.823G= (p.Val275=) c.565G= (p.Val189=) c.819G= c.314-1921G= (n.314-1921G=) c.442G= (p.Val148=) c.314-1094G= (n.314-1094G=) c.165G= n.715G= n.682G= | |
19 | g.11105471G>T | CA404077348 | LDLR | c.823G>T (p.Val275Leu) c.565G>T (p.Val189Leu) c.819G>T c.314-1921G>T (n.314-1921G>T) c.442G>T (p.Val148Leu) c.314-1094G>T (n.314-1094G>T) c.165G>T n.715G>T n.682G>T | COSMIC |
19 | g.11105471_11105474delinsTG | CA645373226 | LDLR | c.823_826delinsTG (p.Val275CysfsTer6) c.565_568delinsTG (p.Val189CysfsTer6) c.819_822delinsTG c.314-1921_314-1918delinsTG (n.314-1921_314-1918delinsTG) c.442_445delinsTG (p.Val148CysfsTer6) c.314-1094_314-1091delinsTG (n.314-1094_314-1091delinsTG) c.165_168delinsTG n.715_718delinsTG n.682_685delinsTG | ClinVar dbSNP |
19 | g.11105471_11105494delinsGTGTTCCAAGGGGACAGTAGCCCC | CA2322767495 | LDLR | c.823_846delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val275=) c.565_588delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val189=) c.819_842delinsGTGTTCCAAGGGGACAGTAGCCCC c.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1921_314-1898delinsGTGTTCCAAGGGGACAGTAGCCCC) c.442_465delinsGTGTTCCAAGGGGACAGTAGCCCC (p.Val148=) c.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC (n.314-1094_314-1071delinsGTGTTCCAAGGGGACAGTAGCCCC) c.165_188delinsGTGTTCCAAGGGGACAGTAGCCCC n.715_738delinsGTGTTCCAAGGGGACAGTAGCCCC n.682_705delinsGTGTTCCAAGGGGACAGTAGCCCC | |
19 | g.11105472T>A | CA404077352 | LDLR | c.824T>A (p.Val275Glu) c.566T>A (p.Val189Glu) c.820T>A c.314-1920T>A (n.314-1920T>A) c.443T>A (p.Val148Glu) c.314-1093T>A (n.314-1093T>A) c.166T>A n.716T>A n.683T>A | |
19 | g.11105472T>C | CA404077362 | LDLR | c.824T>C (p.Val275Ala) c.566T>C (p.Val189Ala) c.820T>C c.314-1920T>C (n.314-1920T>C) c.443T>C (p.Val148Ala) c.314-1093T>C (n.314-1093T>C) c.166T>C n.716T>C n.683T>C | |
19 | g.11105472T>G | CA404077365 | LDLR | c.824T>G (p.Val275Gly) c.566T>G (p.Val189Gly) c.820T>G c.314-1920T>G (n.314-1920T>G) c.443T>G (p.Val148Gly) c.314-1093T>G (n.314-1093T>G) c.166T>G n.716T>G n.683T>G | |
19 | g.11105474_11105496del | CA10584992 | LDLR | c.826_848del (p.Phe276LeufsTer20) c.568_590del (p.Phe190LeufsTer20) c.822_844del c.314-1918_314-1896del (n.314-1918_314-1896del) c.445_467del (p.Phe149LeufsTer20) c.314-1091_314-1069del (n.314-1091_314-1069del) c.168_190del n.718_740del n.685_707del | ClinVar dbSNP |
19 | g.11105473G>A | CA505743390 | LDLR | c.825G>A (p.Val275=) c.567G>A (p.Val189=) c.821G>A c.314-1919G>A (n.314-1919G>A) c.444G>A (p.Val148=) c.314-1092G>A (n.314-1092G>A) c.167G>A n.717G>A n.684G>A | dbSNP |
19 | g.11105473G>C | CA505743392 | LDLR | c.825G>C (p.Val275=) c.567G>C (p.Val189=) c.821G>C c.314-1919G>C (n.314-1919G>C) c.444G>C (p.Val148=) c.314-1092G>C (n.314-1092G>C) c.167G>C n.717G>C n.684G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105473G= | CA2322767497 | LDLR | c.825G= (p.Val275=) c.567G= (p.Val189=) c.821G= c.314-1919G= (n.314-1919G=) c.444G= (p.Val148=) c.314-1092G= (n.314-1092G=) c.167G= n.717G= n.684G= | |
19 | g.11105473G>T | CA043979 | LDLR | c.825G>T (p.Val275=) c.567G>T (p.Val189=) c.821G>T c.314-1919G>T (n.314-1919G>T) c.444G>T (p.Val148=) c.314-1092G>T (n.314-1092G>T) c.167G>T n.717G>T n.684G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105474T>A | CA404077388 | LDLR | c.826T>A (p.Phe276Ile) c.568T>A (p.Phe190Ile) c.822T>A c.314-1918T>A (n.314-1918T>A) c.445T>A (p.Phe149Ile) c.314-1091T>A (n.314-1091T>A) c.168T>A n.718T>A n.685T>A | |
19 | g.11105474T>C | CA404077392 | LDLR | c.826T>C (p.Phe276Leu) c.568T>C (p.Phe190Leu) c.822T>C c.314-1918T>C (n.314-1918T>C) c.445T>C (p.Phe149Leu) c.314-1091T>C (n.314-1091T>C) c.168T>C n.718T>C n.685T>C | |
19 | g.11105474T>G | CA404077396 | LDLR | c.826T>G (p.Phe276Val) c.568T>G (p.Phe190Val) c.822T>G c.314-1918T>G (n.314-1918T>G) c.445T>G (p.Phe149Val) c.314-1091T>G (n.314-1091T>G) c.168T>G n.718T>G n.685T>G | |
19 | g.11105475T>A | CA404077414 | LDLR | c.827T>A (p.Phe276Tyr) c.569T>A (p.Phe190Tyr) c.823T>A c.314-1917T>A (n.314-1917T>A) c.446T>A (p.Phe149Tyr) c.314-1090T>A (n.314-1090T>A) c.169T>A n.719T>A n.686T>A | |
19 | g.11105475T>C | CA404077404 | LDLR | c.827T>C (p.Phe276Ser) c.569T>C (p.Phe190Ser) c.823T>C c.314-1917T>C (n.314-1917T>C) c.446T>C (p.Phe149Ser) c.314-1090T>C (n.314-1090T>C) c.169T>C n.719T>C n.686T>C | |
19 | g.11105475T>G | CA404077401 | LDLR | c.827T>G (p.Phe276Cys) c.569T>G (p.Phe190Cys) c.823T>G c.314-1917T>G (n.314-1917T>G) c.446T>G (p.Phe149Cys) c.314-1090T>G (n.314-1090T>G) c.169T>G n.719T>G n.686T>G | |
19 | g.11105476C>A | CA404077419 | LDLR | c.828C>A (p.Phe276Leu) c.570C>A (p.Phe190Leu) c.824C>A c.314-1916C>A (n.314-1916C>A) c.447C>A (p.Phe149Leu) c.314-1089C>A (n.314-1089C>A) c.170C>A n.720C>A n.687C>A | |
19 | g.11105476C= | CA2322767498 | LDLR | c.828C= (p.Phe276=) c.570C= (p.Phe190=) c.824C= c.314-1916C= (n.314-1916C=) c.447C= (p.Phe149=) c.314-1089C= (n.314-1089C=) c.170C= n.720C= n.687C= | |
19 | g.11105476C>G | CA404077421 | LDLR | c.828C>G (p.Phe276Leu) c.570C>G (p.Phe190Leu) c.824C>G c.314-1916C>G (n.314-1916C>G) c.447C>G (p.Phe149Leu) c.314-1089C>G (n.314-1089C>G) c.170C>G n.720C>G n.687C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105476C>T | CA305296876 | LDLR | c.828C>T (p.Phe276=) c.570C>T (p.Phe190=) c.824C>T c.314-1916C>T (n.314-1916C>T) c.447C>T (p.Phe149=) c.314-1089C>T (n.314-1089C>T) c.170C>T n.720C>T n.687C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105477C>A | CA404077435 | LDLR | c.829C>A (p.Gln277Lys) c.571C>A (p.Gln191Lys) c.825C>A c.314-1915C>A (n.314-1915C>A) c.448C>A (p.Gln150Lys) c.314-1088C>A (n.314-1088C>A) c.171C>A n.721C>A n.688C>A | |
19 | g.11105477C= | CA2322767499 | LDLR | c.829C= (p.Gln277=) c.571C= (p.Gln191=) c.825C= c.314-1915C= (n.314-1915C=) c.448C= (p.Gln150=) c.314-1088C= (n.314-1088C=) c.171C= n.721C= n.688C= | |
19 | g.11105477C>G | CA404077436 | LDLR | c.829C>G (p.Gln277Glu) c.571C>G (p.Gln191Glu) c.825C>G c.314-1915C>G (n.314-1915C>G) c.448C>G (p.Gln150Glu) c.314-1088C>G (n.314-1088C>G) c.171C>G n.721C>G n.688C>G | |
19 | g.11105477C>T | CA10584993 | LDLR | c.829C>T (p.Gln277Ter) c.571C>T (p.Gln191Ter) c.825C>T c.314-1915C>T (n.314-1915C>T) c.448C>T (p.Gln150Ter) c.314-1088C>T (n.314-1088C>T) c.171C>T n.721C>T n.688C>T | ClinVar dbSNP |
19 | g.11105477_11105483delinsGCCCAAT | CA2497030123 | LDLR | c.829_835delinsGCCCAAT (p.Gln277_Asp279delinsAlaGlnTyr) c.571_577delinsGCCCAAT (p.Gln191_Asp193delinsAlaGlnTyr) c.825_831delinsGCCCAAT c.314-1915_314-1909delinsGCCCAAT (n.314-1915_314-1909delinsGCCCAAT) c.448_454delinsGCCCAAT (p.Gln150_Asp152delinsAlaGlnTyr) c.314-1088_314-1082delinsGCCCAAT (n.314-1088_314-1082delinsGCCCAAT) c.171_177delinsGCCCAAT n.721_727delinsGCCCAAT n.688_694delinsGCCCAAT | |
19 | g.11105478A= | CA2322767500 | LDLR | c.830A= (p.Gln277=) c.572A= (p.Gln191=) c.826A= c.314-1914A= (n.314-1914A=) c.449A= (p.Gln150=) c.314-1087A= (n.314-1087A=) c.172A= n.722A= n.689A= | |
19 | g.11105478A>C | CA404077452 | LDLR | c.830A>C (p.Gln277Pro) c.572A>C (p.Gln191Pro) c.826A>C c.314-1914A>C (n.314-1914A>C) c.449A>C (p.Gln150Pro) c.314-1087A>C (n.314-1087A>C) c.172A>C n.722A>C n.689A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105478A>G | CA404077439 | LDLR | c.830A>G (p.Gln277Arg) c.572A>G (p.Gln191Arg) c.826A>G c.314-1914A>G (n.314-1914A>G) c.449A>G (p.Gln150Arg) c.314-1087A>G (n.314-1087A>G) c.172A>G n.722A>G n.689A>G | |
19 | g.11105478A>T | CA404077448 | LDLR | c.830A>T (p.Gln277Leu) c.572A>T (p.Gln191Leu) c.826A>T c.314-1914A>T (n.314-1914A>T) c.449A>T (p.Gln150Leu) c.314-1087A>T (n.314-1087A>T) c.172A>T n.722A>T n.689A>T | |
19 | g.11105479A= | CA2322767501 | LDLR | c.831A= (p.Gln277=) c.573A= (p.Gln191=) c.827A= c.314-1913A= (n.314-1913A=) c.450A= (p.Gln150=) c.314-1086A= (n.314-1086A=) c.173A= n.723A= n.690A= | |
19 | g.11105479A>C | CA404077457 | LDLR | c.831A>C (p.Gln277His) c.573A>C (p.Gln191His) c.827A>C c.314-1913A>C (n.314-1913A>C) c.450A>C (p.Gln150His) c.314-1086A>C (n.314-1086A>C) c.173A>C n.723A>C n.690A>C | |
19 | g.11105479A>G | CA505743402 | LDLR | c.831A>G (p.Gln277=) c.573A>G (p.Gln191=) c.827A>G c.314-1913A>G (n.314-1913A>G) c.450A>G (p.Gln150=) c.314-1086A>G (n.314-1086A>G) c.173A>G n.723A>G n.690A>G | gnomAD v4 |
19 | g.11105479A>T | CA404077461 | LDLR | c.831A>T (p.Gln277His) c.573A>T (p.Gln191His) c.827A>T c.314-1913A>T (n.314-1913A>T) c.450A>T (p.Gln150His) c.314-1086A>T (n.314-1086A>T) c.173A>T n.723A>T n.690A>T | |
19 | g.11105480G>A | CA404077465 | LDLR | c.832G>A (p.Gly278Arg) c.574G>A (p.Gly192Arg) c.828G>A c.314-1912G>A (n.314-1912G>A) c.451G>A (p.Gly151Arg) c.314-1085G>A (n.314-1085G>A) c.174G>A n.724G>A n.691G>A | gnomAD v4 |
19 | g.11105480G>C | CA404077468 | LDLR | c.832G>C (p.Gly278Arg) c.574G>C (p.Gly192Arg) c.828G>C c.314-1912G>C (n.314-1912G>C) c.451G>C (p.Gly151Arg) c.314-1085G>C (n.314-1085G>C) c.174G>C n.724G>C n.691G>C | ClinVar dbSNP |
19 | g.11105480G= | CA2322767502 | LDLR | c.832G= (p.Gly278=) c.574G= (p.Gly192=) c.828G= c.314-1912G= (n.314-1912G=) c.451G= (p.Gly151=) c.314-1085G= (n.314-1085G=) c.174G= n.724G= n.691G= | |
19 | g.11105480G>T | CA404077473 | LDLR | c.832G>T (p.Gly278Trp) c.574G>T (p.Gly192Trp) c.828G>T c.314-1912G>T (n.314-1912G>T) c.451G>T (p.Gly151Trp) c.314-1085G>T (n.314-1085G>T) c.174G>T n.724G>T n.691G>T | |
19 | g.11105483dup | CA916080161 | LDLR | c.835dup (p.Asp279GlyfsTer3) c.577dup (p.Asp193GlyfsTer3) c.831dup c.314-1909dup (n.314-1909dup) c.454dup (p.Asp152GlyfsTer3) c.314-1082dup (n.314-1082dup) c.177dup n.727dup n.694dup | ClinVar dbSNP |
19 | g.11105481G>A | CA404077478 | LDLR | c.833G>A (p.Gly278Glu) c.575G>A (p.Gly192Glu) c.829G>A c.314-1911G>A (n.314-1911G>A) c.452G>A (p.Gly151Glu) c.314-1084G>A (n.314-1084G>A) c.175G>A n.725G>A n.692G>A | |
19 | g.11105481G>C | CA404077481 | LDLR | c.833G>C (p.Gly278Ala) c.575G>C (p.Gly192Ala) c.829G>C c.314-1911G>C (n.314-1911G>C) c.452G>C (p.Gly151Ala) c.314-1084G>C (n.314-1084G>C) c.175G>C n.725G>C n.692G>C | |
19 | g.11105481G>T | CA404077484 | LDLR | c.833G>T (p.Gly278Val) c.575G>T (p.Gly192Val) c.829G>T c.314-1911G>T (n.314-1911G>T) c.452G>T (p.Gly151Val) c.314-1084G>T (n.314-1084G>T) c.175G>T n.725G>T n.692G>T | |
19 | g.11105482G>A | CA505743407 | LDLR | c.834G>A (p.Gly278=) c.576G>A (p.Gly192=) c.830G>A c.314-1910G>A (n.314-1910G>A) c.453G>A (p.Gly151=) c.314-1083G>A (n.314-1083G>A) c.176G>A n.726G>A n.693G>A | |
19 | g.11105482G>C | CA505743408 | LDLR | c.834G>C (p.Gly278=) c.576G>C (p.Gly192=) c.830G>C c.314-1910G>C (n.314-1910G>C) c.453G>C (p.Gly151=) c.314-1083G>C (n.314-1083G>C) c.176G>C n.726G>C n.693G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105482G= | CA2322767504 | LDLR | c.834G= (p.Gly278=) c.576G= (p.Gly192=) c.830G= c.314-1910G= (n.314-1910G=) c.453G= (p.Gly151=) c.314-1083G= (n.314-1083G=) c.176G= n.726G= n.693G= | |
19 | g.11105482G>T | CA505743409 | LDLR | c.834G>T (p.Gly278=) c.576G>T (p.Gly192=) c.830G>T c.314-1910G>T (n.314-1910G>T) c.453G>T (p.Gly151=) c.314-1083G>T (n.314-1083G>T) c.176G>T n.726G>T n.693G>T | |
19 | g.11105482_11105489delinsGGACAGTA | CA2322767503 | LDLR | c.834_841delinsGGACAGTA (p.Gly278=) c.576_583delinsGGACAGTA (p.Gly192=) c.830_837delinsGGACAGTA c.314-1910_314-1903delinsGGACAGTA (n.314-1910_314-1903delinsGGACAGTA) c.453_460delinsGGACAGTA (p.Gly151=) c.314-1083_314-1076delinsGGACAGTA (n.314-1083_314-1076delinsGGACAGTA) c.176_183delinsGGACAGTA n.726_733delinsGGACAGTA n.693_700delinsGGACAGTA | |
19 | g.11105483G>A | CA404077488 | LDLR | c.835G>A (p.Asp279Asn) c.577G>A (p.Asp193Asn) c.831G>A c.314-1909G>A (n.314-1909G>A) c.454G>A (p.Asp152Asn) c.314-1082G>A (n.314-1082G>A) c.177G>A n.727G>A n.694G>A | |
19 | g.11105483G>C | CA404077489 | LDLR | c.835G>C (p.Asp279His) c.577G>C (p.Asp193His) c.831G>C c.314-1909G>C (n.314-1909G>C) c.454G>C (p.Asp152His) c.314-1082G>C (n.314-1082G>C) c.177G>C n.727G>C n.694G>C | |
19 | g.11105483G>T | CA404077490 | LDLR | c.835G>T (p.Asp279Tyr) c.577G>T (p.Asp193Tyr) c.831G>T c.314-1909G>T (n.314-1909G>T) c.454G>T (p.Asp152Tyr) c.314-1082G>T (n.314-1082G>T) c.177G>T n.727G>T n.694G>T | ClinVar |
19 | g.11105483_11105484delinsGA | CA2322767505 | LDLR | c.835_836delinsGA (p.Asp279=) c.577_578delinsGA (p.Asp193=) c.831_832delinsGA c.314-1909_314-1908delinsGA (n.314-1909_314-1908delinsGA) c.454_455delinsGA (p.Asp152=) c.314-1082_314-1081delinsGA (n.314-1082_314-1081delinsGA) c.177_178delinsGA n.727_728delinsGA n.694_695delinsGA | |
19 | g.11105484_11105490del | CA10584994 | LDLR | c.836_842del (p.Asp279AlafsTer11) c.578_584del (p.Asp193AlafsTer11) c.832_838del c.314-1908_314-1902del (n.314-1908_314-1902del) c.455_461del (p.Asp152AlafsTer11) c.314-1081_314-1075del (n.314-1081_314-1075del) c.178_184del n.728_734del n.695_701del | ClinVar dbSNP |