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.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.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 |
19 | g.11105484del | CA10584995 | LDLR | c.836del (p.Asp279AlafsTer13) c.578del (p.Asp193AlafsTer13) c.832del c.314-1908del (n.314-1908del) c.455del (p.Asp152AlafsTer13) c.314-1081del (n.314-1081del) c.178del n.728del n.695del | ClinVar dbSNP |
19 | g.11105484A= | CA2322767506 | LDLR | c.836A= (p.Asp279=) c.578A= (p.Asp193=) c.832A= c.314-1908A= (n.314-1908A=) c.455A= (p.Asp152=) c.314-1081A= (n.314-1081A=) c.178A= n.728A= n.695A= | |
19 | g.11105484A>C | CA404077503 | LDLR | c.836A>C (p.Asp279Ala) c.578A>C (p.Asp193Ala) c.832A>C c.314-1908A>C (n.314-1908A>C) c.455A>C (p.Asp152Ala) c.314-1081A>C (n.314-1081A>C) c.178A>C n.728A>C n.695A>C | |
19 | g.11105484A>G | CA305296879 | LDLR | c.836A>G (p.Asp279Gly) c.578A>G (p.Asp193Gly) c.832A>G c.314-1908A>G (n.314-1908A>G) c.455A>G (p.Asp152Gly) c.314-1081A>G (n.314-1081A>G) c.178A>G n.728A>G n.695A>G | dbSNP |
19 | g.11105484A>T | CA404077507 | LDLR | c.836A>T (p.Asp279Val) c.578A>T (p.Asp193Val) c.832A>T c.314-1908A>T (n.314-1908A>T) c.455A>T (p.Asp152Val) c.314-1081A>T (n.314-1081A>T) c.178A>T n.728A>T n.695A>T | |
19 | g.11105484_11105485delinsAC | CA2322767507 | LDLR | c.836_837delinsAC (p.Asp279=) c.578_579delinsAC (p.Asp193=) c.832_833delinsAC c.314-1908_314-1907delinsAC (n.314-1908_314-1907delinsAC) c.455_456delinsAC (p.Asp152=) c.314-1081_314-1080delinsAC (n.314-1081_314-1080delinsAC) c.178_179delinsAC n.728_729delinsAC n.695_696delinsAC | |
19 | g.11105485del | CA916080162 | LDLR | c.837del (p.Asp279GlufsTer13) c.579del (p.Asp193GlufsTer13) c.833del c.314-1907del (n.314-1907del) c.456del (p.Asp152GlufsTer13) c.314-1080del (n.314-1080del) c.179del n.729del n.696del | ClinVar dbSNP |
19 | g.11105485C>A | CA404077508 | LDLR | c.837C>A (p.Asp279Glu) c.579C>A (p.Asp193Glu) c.833C>A c.314-1907C>A (n.314-1907C>A) c.456C>A (p.Asp152Glu) c.314-1080C>A (n.314-1080C>A) c.179C>A n.729C>A n.696C>A | dbSNP |
19 | g.11105485C= | CA2322767508 | LDLR | c.837C= (p.Asp279=) c.579C= (p.Asp193=) c.833C= c.314-1907C= (n.314-1907C=) c.456C= (p.Asp152=) c.314-1080C= (n.314-1080C=) c.179C= n.729C= n.696C= | |
19 | g.11105485C>G | CA404077509 | LDLR | c.837C>G (p.Asp279Glu) c.579C>G (p.Asp193Glu) c.833C>G c.314-1907C>G (n.314-1907C>G) c.456C>G (p.Asp152Glu) c.314-1080C>G (n.314-1080C>G) c.179C>G n.729C>G n.696C>G | gnomAD v4 |
19 | g.11105485C>T | CA505743415 | LDLR | c.837C>T (p.Asp279=) c.579C>T (p.Asp193=) c.833C>T c.314-1907C>T (n.314-1907C>T) c.456C>T (p.Asp152=) c.314-1080C>T (n.314-1080C>T) c.179C>T n.729C>T n.696C>T | gnomAD v4 |
19 | g.11105486A= | CA2322767510 | LDLR | c.838A= (p.Ser280=) c.580A= (p.Ser194=) c.834A= c.314-1906A= (n.314-1906A=) c.457A= (p.Ser153=) c.314-1079A= (n.314-1079A=) c.180A= n.730A= n.697A= | |
19 | g.11105486A>C | CA404077514 | LDLR | c.838A>C (p.Ser280Arg) c.580A>C (p.Ser194Arg) c.834A>C c.314-1906A>C (n.314-1906A>C) c.457A>C (p.Ser153Arg) c.314-1079A>C (n.314-1079A>C) c.180A>C n.730A>C n.697A>C | |
19 | g.11105486A>G | CA305296881 | LDLR | c.838A>G (p.Ser280Gly) c.580A>G (p.Ser194Gly) c.834A>G c.314-1906A>G (n.314-1906A>G) c.457A>G (p.Ser153Gly) c.314-1079A>G (n.314-1079A>G) c.180A>G n.730A>G n.697A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105486A>T | CA404077522 | LDLR | c.838A>T (p.Ser280Cys) c.580A>T (p.Ser194Cys) c.834A>T c.314-1906A>T (n.314-1906A>T) c.457A>T (p.Ser153Cys) c.314-1079A>T (n.314-1079A>T) c.180A>T n.730A>T n.697A>T | |
19 | g.11105486_11105487delinsAG | CA2322767509 | LDLR | c.838_839delinsAG (p.Ser280=) c.580_581delinsAG (p.Ser194=) c.834_835delinsAG c.314-1906_314-1905delinsAG (n.314-1906_314-1905delinsAG) c.457_458delinsAG (p.Ser153=) c.314-1079_314-1078delinsAG (n.314-1079_314-1078delinsAG) c.180_181delinsAG n.730_731delinsAG n.697_698delinsAG | |
19 | g.11105487del | CA993532450 | LDLR | c.839del (p.Ser280IlefsTer12) c.581del (p.Ser194IlefsTer12) c.835del c.314-1905del (n.314-1905del) c.458del (p.Ser153IlefsTer12) c.314-1078del (n.314-1078del) c.181del n.731del n.698del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105487G>A | CA404077527 | LDLR | c.839G>A (p.Ser280Asn) c.581G>A (p.Ser194Asn) c.835G>A c.314-1905G>A (n.314-1905G>A) c.458G>A (p.Ser153Asn) c.314-1078G>A (n.314-1078G>A) c.181G>A n.731G>A n.698G>A | COSMIC |
19 | g.11105487G>C | CA404077531 | LDLR | c.839G>C (p.Ser280Thr) c.581G>C (p.Ser194Thr) c.835G>C c.314-1905G>C (n.314-1905G>C) c.458G>C (p.Ser153Thr) c.314-1078G>C (n.314-1078G>C) c.181G>C n.731G>C n.698G>C | |
19 | g.11105487G= | CA2322767511 | LDLR | c.839G= (p.Ser280=) c.581G= (p.Ser194=) c.835G= c.314-1905G= (n.314-1905G=) c.458G= (p.Ser153=) c.314-1078G= (n.314-1078G=) c.181G= n.731G= n.698G= | |
19 | g.11105487G>T | CA404077533 | LDLR | c.839G>T (p.Ser280Ile) c.581G>T (p.Ser194Ile) c.835G>T c.314-1905G>T (n.314-1905G>T) c.458G>T (p.Ser153Ile) c.314-1078G>T (n.314-1078G>T) c.181G>T n.731G>T n.698G>T | |
19 | g.11105487_11105489delinsCTGCTCG | CA2573320539 | LDLR | c.839_841delinsCTGCTCG (p.Ser280ThrfsTer25) c.581_583delinsCTGCTCG (p.Ser194ThrfsTer25) c.835_837delinsCTGCTCG c.314-1905_314-1903delinsCTGCTCG (n.314-1905_314-1903delinsCTGCTCG) c.458_460delinsCTGCTCG (p.Ser153ThrfsTer25) c.314-1078_314-1076delinsCTGCTCG (n.314-1078_314-1076delinsCTGCTCG) c.181_183delinsCTGCTCG n.731_733delinsCTGCTCG n.698_700delinsCTGCTCG | |
19 | g.11105487_11105494delinsGTAGCCCC | CA2322767512 | LDLR | c.839_846delinsGTAGCCCC (p.Ser280=) c.581_588delinsGTAGCCCC (p.Ser194=) c.835_842delinsGTAGCCCC c.314-1905_314-1898delinsGTAGCCCC (n.314-1905_314-1898delinsGTAGCCCC) c.458_465delinsGTAGCCCC (p.Ser153=) c.314-1078_314-1071delinsGTAGCCCC (n.314-1078_314-1071delinsGTAGCCCC) c.181_188delinsGTAGCCCC n.731_738delinsGTAGCCCC n.698_705delinsGTAGCCCC | |
19 | g.11105487_11105488insA | CA10584996 | LDLR | c.839_840insA (p.Ser280ArgfsTer2) c.581_582insA (p.Ser194ArgfsTer2) c.835_836insA c.314-1905_314-1904insA (n.314-1905_314-1904insA) c.458_459insA (p.Ser153ArgfsTer2) c.314-1078_314-1077insA (n.314-1078_314-1077insA) c.181_182insA n.731_732insA n.698_699insA | ClinVar dbSNP |
19 | g.11105488T>A | CA404077542 | LDLR | c.840T>A (p.Ser280Arg) c.582T>A (p.Ser194Arg) c.836T>A c.314-1904T>A (n.314-1904T>A) c.459T>A (p.Ser153Arg) c.314-1077T>A (n.314-1077T>A) c.182T>A n.732T>A n.699T>A | |
19 | g.11105488T>C | CA505743419 | LDLR | c.840T>C (p.Ser280=) c.582T>C (p.Ser194=) c.836T>C c.314-1904T>C (n.314-1904T>C) c.459T>C (p.Ser153=) c.314-1077T>C (n.314-1077T>C) c.182T>C n.732T>C n.699T>C | |
19 | g.11105488T>G | CA404077546 | LDLR | c.840T>G (p.Ser280Arg) c.582T>G (p.Ser194Arg) c.836T>G c.314-1904T>G (n.314-1904T>G) c.459T>G (p.Ser153Arg) c.314-1077T>G (n.314-1077T>G) c.182T>G n.732T>G n.699T>G | |
19 | g.11105489_11105495del | CA10584997 | LDLR | c.841_847del (p.Ser281AlafsTer9) c.583_589del (p.Ser195AlafsTer9) c.837_843del c.314-1903_314-1897del (n.314-1903_314-1897del) c.460_466del (p.Ser154AlafsTer9) c.314-1076_314-1070del (n.314-1076_314-1070del) c.183_189del n.733_739del n.700_706del | ClinVar dbSNP |
19 | g.11105489A>C | CA404077553 | LDLR | c.841A>C (p.Ser281Arg) c.583A>C (p.Ser195Arg) c.837A>C c.314-1903A>C (n.314-1903A>C) c.460A>C (p.Ser154Arg) c.314-1076A>C (n.314-1076A>C) c.183A>C n.733A>C n.700A>C | |
19 | g.11105489A>G | CA404077551 | LDLR | c.841A>G (p.Ser281Gly) c.583A>G (p.Ser195Gly) c.837A>G c.314-1903A>G (n.314-1903A>G) c.460A>G (p.Ser154Gly) c.314-1076A>G (n.314-1076A>G) c.183A>G n.733A>G n.700A>G | |
19 | g.11105489A>T | CA404077552 | LDLR | c.841A>T (p.Ser281Cys) c.583A>T (p.Ser195Cys) c.837A>T c.314-1903A>T (n.314-1903A>T) c.460A>T (p.Ser154Cys) c.314-1076A>T (n.314-1076A>T) c.183A>T n.733A>T n.700A>T | |
19 | g.11105490G>A | CA10584998 | LDLR | c.842G>A (p.Ser281Asn) c.584G>A (p.Ser195Asn) c.838G>A c.314-1902G>A (n.314-1902G>A) c.461G>A (p.Ser154Asn) c.314-1075G>A (n.314-1075G>A) c.184G>A n.734G>A n.701G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105490G>C | CA404077559 | LDLR | c.842G>C (p.Ser281Thr) c.584G>C (p.Ser195Thr) c.838G>C c.314-1902G>C (n.314-1902G>C) c.461G>C (p.Ser154Thr) c.314-1075G>C (n.314-1075G>C) c.184G>C n.734G>C n.701G>C | |
19 | g.11105490G= | CA2322767513 | LDLR | c.842G= (p.Ser281=) c.584G= (p.Ser195=) c.838G= c.314-1902G= (n.314-1902G=) c.461G= (p.Ser154=) c.314-1075G= (n.314-1075G=) c.184G= n.734G= n.701G= | |
19 | g.11105490G>T | CA404077563 | LDLR | c.842G>T (p.Ser281Ile) c.584G>T (p.Ser195Ile) c.838G>T c.314-1902G>T (n.314-1902G>T) c.461G>T (p.Ser154Ile) c.314-1075G>T (n.314-1075G>T) c.184G>T n.734G>T n.701G>T | |
19 | g.11105491C>A | CA10583775 | LDLR | c.843C>A (p.Ser281Arg) c.585C>A (p.Ser195Arg) c.839C>A c.314-1901C>A (n.314-1901C>A) c.462C>A (p.Ser154Arg) c.314-1074C>A (n.314-1074C>A) c.185C>A n.735C>A n.702C>A | ClinVar dbSNP |
19 | g.11105491C= | CA2322767514 | LDLR | c.843C= (p.Ser281=) c.585C= (p.Ser195=) c.839C= c.314-1901C= (n.314-1901C=) c.462C= (p.Ser154=) c.314-1074C= (n.314-1074C=) c.185C= n.735C= n.702C= | |
19 | g.11105491C>G | CA404077564 | LDLR | c.843C>G (p.Ser281Arg) c.585C>G (p.Ser195Arg) c.839C>G c.314-1901C>G (n.314-1901C>G) c.462C>G (p.Ser154Arg) c.314-1074C>G (n.314-1074C>G) c.185C>G n.735C>G n.702C>G | ClinVar |
19 | g.11105491C>T | CA044003 | LDLR | c.843C>T (p.Ser281=) c.585C>T (p.Ser195=) c.839C>T c.314-1901C>T (n.314-1901C>T) c.462C>T (p.Ser154=) c.314-1074C>T (n.314-1074C>T) c.185C>T n.735C>T n.702C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105494dup | CA2840305518 | LDLR | c.846dup (p.Cys283LeufsTer21) c.588dup (p.Cys197LeufsTer21) c.842dup c.314-1898dup (n.314-1898dup) c.465dup (p.Cys156LeufsTer21) c.314-1071dup (n.314-1071dup) c.188dup n.738dup n.705dup | |
19 | g.11105492C>A | CA305296886 | LDLR | c.844C>A (p.Pro282Thr) c.586C>A (p.Pro196Thr) c.840C>A c.314-1900C>A (n.314-1900C>A) c.463C>A (p.Pro155Thr) c.314-1073C>A (n.314-1073C>A) c.186C>A n.736C>A n.703C>A | ClinVar dbSNP |
19 | g.11105492C= | CA2322767515 | LDLR | c.844C= (p.Pro282=) c.586C= (p.Pro196=) c.840C= c.314-1900C= (n.314-1900C=) c.463C= (p.Pro155=) c.314-1073C= (n.314-1073C=) c.186C= n.736C= n.703C= | |
19 | g.11105492C>G | CA404077567 | LDLR | c.844C>G (p.Pro282Ala) c.586C>G (p.Pro196Ala) c.840C>G c.314-1900C>G (n.314-1900C>G) c.463C>G (p.Pro155Ala) c.314-1073C>G (n.314-1073C>G) c.186C>G n.736C>G n.703C>G | dbSNP |
19 | g.11105492C>T | CA404077568 | LDLR | c.844C>T (p.Pro282Ser) c.586C>T (p.Pro196Ser) c.840C>T c.314-1900C>T (n.314-1900C>T) c.463C>T (p.Pro155Ser) c.314-1073C>T (n.314-1073C>T) c.186C>T n.736C>T n.703C>T | gnomAD v4 COSMIC |
19 | g.11105492_11105530del | CA2573050576 | LDLR | c.844_882del (p.Pro282_Glu294del) c.586_624del (p.Pro196_Glu208del) c.840_878del c.314-1900_314-1862del (n.314-1900_314-1862del) c.463_501del (p.Pro155_Glu167del) c.314-1073_314-1035del (n.314-1073_314-1035del) c.186_224del n.736_774del n.703_741del | |
19 | g.11105493C>A | CA044008 | LDLR | c.845C>A (p.Pro282His) c.587C>A (p.Pro196His) c.841C>A c.314-1899C>A (n.314-1899C>A) c.464C>A (p.Pro155His) c.314-1072C>A (n.314-1072C>A) c.187C>A n.737C>A n.704C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105493C= | CA2322767516 | LDLR | c.845C= (p.Pro282=) c.587C= (p.Pro196=) c.841C= c.314-1899C= (n.314-1899C=) c.464C= (p.Pro155=) c.314-1072C= (n.314-1072C=) c.187C= n.737C= n.704C= | |
19 | g.11105493C>G | CA404077573 | LDLR | c.845C>G (p.Pro282Arg) c.587C>G (p.Pro196Arg) c.841C>G c.314-1899C>G (n.314-1899C>G) c.464C>G (p.Pro155Arg) c.314-1072C>G (n.314-1072C>G) c.187C>G n.737C>G n.704C>G | |
19 | g.11105493C>T | CA404077570 | LDLR | c.845C>T (p.Pro282Leu) c.587C>T (p.Pro196Leu) c.841C>T c.314-1899C>T (n.314-1899C>T) c.464C>T (p.Pro155Leu) c.314-1072C>T (n.314-1072C>T) c.187C>T n.737C>T n.704C>T | COSMIC |
19 | g.11105494C>A | CA044017 | LDLR | c.846C>A (p.Pro282=) c.588C>A (p.Pro196=) c.842C>A c.314-1898C>A (n.314-1898C>A) c.465C>A (p.Pro155=) c.314-1071C>A (n.314-1071C>A) c.188C>A n.738C>A n.705C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105494C= | CA2322767517 | LDLR | c.846C= (p.Pro282=) c.588C= (p.Pro196=) c.842C= c.314-1898C= (n.314-1898C=) c.465C= (p.Pro155=) c.314-1071C= (n.314-1071C=) c.188C= n.738C= n.705C= | |
19 | g.11105494C>G | CA505743426 | LDLR | c.846C>G (p.Pro282=) c.588C>G (p.Pro196=) c.842C>G c.314-1898C>G (n.314-1898C>G) c.465C>G (p.Pro155=) c.314-1071C>G (n.314-1071C>G) c.188C>G n.738C>G n.705C>G | |
19 | g.11105494C>T | CA505743427 | LDLR | c.846C>T (p.Pro282=) c.588C>T (p.Pro196=) c.842C>T c.314-1898C>T (n.314-1898C>T) c.465C>T (p.Pro155=) c.314-1071C>T (n.314-1071C>T) c.188C>T n.738C>T n.705C>T | gnomAD v4 |
19 | g.11105495T>A | CA404077584 | LDLR | c.847T>A (p.Cys283Ser) c.589T>A (p.Cys197Ser) c.843T>A c.314-1897T>A (n.314-1897T>A) c.466T>A (p.Cys156Ser) c.314-1070T>A (n.314-1070T>A) c.189T>A n.739T>A n.706T>A | |
19 | g.11105495T>C | CA023725 | LDLR | c.847T>C (p.Cys283Arg) c.589T>C (p.Cys197Arg) c.843T>C c.314-1897T>C (n.314-1897T>C) c.466T>C (p.Cys156Arg) c.314-1070T>C (n.314-1070T>C) c.189T>C n.739T>C n.706T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105495T>G | CA10584999 | LDLR | c.847T>G (p.Cys283Gly) c.589T>G (p.Cys197Gly) c.843T>G c.314-1897T>G (n.314-1897T>G) c.466T>G (p.Cys156Gly) c.314-1070T>G (n.314-1070T>G) c.189T>G n.739T>G n.706T>G | ClinVar dbSNP |
19 | g.11105495T= | CA2322767518 | LDLR | c.847T= (p.Cys283=) c.589T= (p.Cys197=) c.843T= c.314-1897T= (n.314-1897T=) c.466T= (p.Cys156=) c.314-1070T= (n.314-1070T=) c.189T= n.739T= n.706T= | |
19 | g.11105496G>A | CA023730 | LDLR | c.848G>A (p.Cys283Tyr) c.590G>A (p.Cys197Tyr) c.844G>A c.314-1896G>A (n.314-1896G>A) c.467G>A (p.Cys156Tyr) c.314-1069G>A (n.314-1069G>A) c.190G>A n.740G>A n.707G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105496G>C | CA404077589 | LDLR | c.848G>C (p.Cys283Ser) c.590G>C (p.Cys197Ser) c.844G>C c.314-1896G>C (n.314-1896G>C) c.467G>C (p.Cys156Ser) c.314-1069G>C (n.314-1069G>C) c.190G>C n.740G>C n.707G>C | |
19 | g.11105496G= | CA2322767519 | LDLR | c.848G= (p.Cys283=) c.590G= (p.Cys197=) c.844G= c.314-1896G= (n.314-1896G=) c.467G= (p.Cys156=) c.314-1069G= (n.314-1069G=) c.190G= n.740G= n.707G= | |
19 | g.11105496G>T | CA044039 | LDLR | c.848G>T (p.Cys283Phe) c.590G>T (p.Cys197Phe) c.844G>T c.314-1896G>T (n.314-1896G>T) c.467G>T (p.Cys156Phe) c.314-1069G>T (n.314-1069G>T) c.190G>T n.740G>T n.707G>T | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11105497C>A | CA10585000 | LDLR | c.849C>A (p.Cys283Ter) c.591C>A (p.Cys197Ter) c.845C>A c.314-1895C>A (n.314-1895C>A) c.468C>A (p.Cys156Ter) c.314-1068C>A (n.314-1068C>A) c.191C>A n.741C>A n.708C>A | ClinVar dbSNP |
19 | g.11105497C= | CA2322767520 | LDLR | c.849C= (p.Cys283=) c.591C= (p.Cys197=) c.845C= c.314-1895C= (n.314-1895C=) c.468C= (p.Cys156=) c.314-1068C= (n.314-1068C=) c.191C= n.741C= n.708C= | |
19 | g.11105497C>G | CA10585001 | LDLR | c.849C>G (p.Cys283Trp) c.591C>G (p.Cys197Trp) c.845C>G c.314-1895C>G (n.314-1895C>G) c.468C>G (p.Cys156Trp) c.314-1068C>G (n.314-1068C>G) c.191C>G n.741C>G n.708C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105497C>T | CA505743432 | LDLR | c.849C>T (p.Cys283=) c.591C>T (p.Cys197=) c.845C>T c.314-1895C>T (n.314-1895C>T) c.468C>T (p.Cys156=) c.314-1068C>T (n.314-1068C>T) c.191C>T n.741C>T n.708C>T | dbSNP gnomAD v4 |
19 | g.11105498T>A | CA404077600 | LDLR | c.850T>A (p.Ser284Thr) c.592T>A (p.Ser198Thr) c.846T>A c.314-1894T>A (n.314-1894T>A) c.469T>A (p.Ser157Thr) c.314-1067T>A (n.314-1067T>A) c.192T>A n.742T>A n.709T>A | |
19 | g.11105498T>C | CA404077606 | LDLR | c.850T>C (p.Ser284Pro) c.592T>C (p.Ser198Pro) c.846T>C c.314-1894T>C (n.314-1894T>C) c.469T>C (p.Ser157Pro) c.314-1067T>C (n.314-1067T>C) c.192T>C n.742T>C n.709T>C | |
19 | g.11105498T>G | CA404077603 | LDLR | c.850T>G (p.Ser284Ala) c.592T>G (p.Ser198Ala) c.846T>G c.314-1894T>G (n.314-1894T>G) c.469T>G (p.Ser157Ala) c.314-1067T>G (n.314-1067T>G) c.192T>G n.742T>G n.709T>G | |
19 | g.11105499C>A | CA10585002 | LDLR | c.851C>A (p.Ser284Ter) c.593C>A (p.Ser198Ter) c.847C>A c.314-1893C>A (n.314-1893C>A) c.470C>A (p.Ser157Ter) c.314-1066C>A (n.314-1066C>A) c.193C>A n.743C>A n.710C>A | ClinVar dbSNP |
19 | g.11105499C= | CA2322767521 | LDLR | c.851C= (p.Ser284=) c.593C= (p.Ser198=) c.847C= c.314-1893C= (n.314-1893C=) c.470C= (p.Ser157=) c.314-1066C= (n.314-1066C=) c.193C= n.743C= n.710C= | |
19 | g.11105499C>G | CA044059 | LDLR | c.851C>G (p.Ser284Trp) c.593C>G (p.Ser198Trp) c.847C>G c.314-1893C>G (n.314-1893C>G) c.470C>G (p.Ser157Trp) c.314-1066C>G (n.314-1066C>G) c.193C>G n.743C>G n.710C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105499C>T | CA044071 | LDLR | c.851C>T (p.Ser284Leu) c.593C>T (p.Ser198Leu) c.847C>T c.314-1893C>T (n.314-1893C>T) c.470C>T (p.Ser157Leu) c.314-1066C>T (n.314-1066C>T) c.193C>T n.743C>T n.710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105500G>A | CA505743437 | LDLR | c.852G>A (p.Ser284=) c.594G>A (p.Ser198=) c.848G>A c.314-1892G>A (n.314-1892G>A) c.471G>A (p.Ser157=) c.314-1065G>A (n.314-1065G>A) c.194G>A n.744G>A n.711G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105500G>C | CA044083 | LDLR | c.852G>C (p.Ser284=) c.594G>C (p.Ser198=) c.848G>C c.314-1892G>C (n.314-1892G>C) c.471G>C (p.Ser157=) c.314-1065G>C (n.314-1065G>C) c.194G>C n.744G>C n.711G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105500G= | CA2322767522 | LDLR | c.852G= (p.Ser284=) c.594G= (p.Ser198=) c.848G= c.314-1892G= (n.314-1892G=) c.471G= (p.Ser157=) c.314-1065G= (n.314-1065G=) c.194G= n.744G= n.711G= | |
19 | g.11105500G>T | CA505743438 | LDLR | c.852G>T (p.Ser284=) c.594G>T (p.Ser198=) c.848G>T c.314-1892G>T (n.314-1892G>T) c.471G>T (p.Ser157=) c.314-1065G>T (n.314-1065G>T) c.194G>T n.744G>T n.711G>T | |
19 | g.11105501G>A | CA404077624 | LDLR | c.853G>A (p.Ala285Thr) c.595G>A (p.Ala199Thr) c.849G>A c.314-1891G>A (n.314-1891G>A) c.472G>A (p.Ala158Thr) c.314-1064G>A (n.314-1064G>A) c.195G>A n.745G>A n.712G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105501G>C | CA404077630 | LDLR | c.853G>C (p.Ala285Pro) c.595G>C (p.Ala199Pro) c.849G>C c.314-1891G>C (n.314-1891G>C) c.472G>C (p.Ala158Pro) c.314-1064G>C (n.314-1064G>C) c.195G>C n.745G>C n.712G>C | |
19 | g.11105501G= | CA2322767523 | LDLR | c.853G= (p.Ala285=) c.595G= (p.Ala199=) c.849G= c.314-1891G= (n.314-1891G=) c.472G= (p.Ala158=) c.314-1064G= (n.314-1064G=) c.195G= n.745G= n.712G= | |
19 | g.11105501G>T | CA404077627 | LDLR | c.853G>T (p.Ala285Ser) c.595G>T (p.Ala199Ser) c.849G>T c.314-1891G>T (n.314-1891G>T) c.472G>T (p.Ala158Ser) c.314-1064G>T (n.314-1064G>T) c.195G>T n.745G>T n.712G>T | |
19 | g.11105502C>A | CA404077634 | LDLR | c.854C>A (p.Ala285Asp) c.596C>A (p.Ala199Asp) c.850C>A c.314-1890C>A (n.314-1890C>A) c.473C>A (p.Ala158Asp) c.314-1063C>A (n.314-1063C>A) c.196C>A n.746C>A n.713C>A | |
19 | g.11105502C>G | CA404077638 | LDLR | c.854C>G (p.Ala285Gly) c.596C>G (p.Ala199Gly) c.850C>G c.314-1890C>G (n.314-1890C>G) c.473C>G (p.Ala158Gly) c.314-1063C>G (n.314-1063C>G) c.196C>G n.746C>G n.713C>G | |
19 | g.11105502C>T | CA404077641 | LDLR | c.854C>T (p.Ala285Val) c.596C>T (p.Ala199Val) c.850C>T c.314-1890C>T (n.314-1890C>T) c.473C>T (p.Ala158Val) c.314-1063C>T (n.314-1063C>T) c.196C>T n.746C>T n.713C>T | |
19 | g.11105503C>A | CA505743442 | LDLR | c.855C>A (p.Ala285=) c.597C>A (p.Ala199=) c.851C>A c.314-1889C>A (n.314-1889C>A) c.474C>A (p.Ala158=) c.314-1062C>A (n.314-1062C>A) c.197C>A n.747C>A n.714C>A | |
19 | g.11105503C= | CA2322767524 | LDLR | c.855C= (p.Ala285=) c.597C= (p.Ala199=) c.851C= c.314-1889C= (n.314-1889C=) c.474C= (p.Ala158=) c.314-1062C= (n.314-1062C=) c.197C= n.747C= n.714C= | |
19 | g.11105503C>G | CA505743443 | LDLR | c.855C>G (p.Ala285=) c.597C>G (p.Ala199=) c.851C>G c.314-1889C>G (n.314-1889C>G) c.474C>G (p.Ala158=) c.314-1062C>G (n.314-1062C>G) c.197C>G n.747C>G n.714C>G | |
19 | g.11105503C>T | CA044100 | LDLR | c.855C>T (p.Ala285=) c.597C>T (p.Ala199=) c.851C>T c.314-1889C>T (n.314-1889C>T) c.474C>T (p.Ala158=) c.314-1062C>T (n.314-1062C>T) c.197C>T n.747C>T n.714C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105504T>A | CA10585003 | LDLR | c.856T>A (p.Phe286Ile) c.598T>A (p.Phe200Ile) c.852T>A c.314-1888T>A (n.314-1888T>A) c.475T>A (p.Phe159Ile) c.314-1061T>A (n.314-1061T>A) c.198T>A n.748T>A n.715T>A | ClinVar dbSNP |
19 | g.11105504T>C | CA404077651 | LDLR | c.856T>C (p.Phe286Leu) c.598T>C (p.Phe200Leu) c.852T>C c.314-1888T>C (n.314-1888T>C) c.475T>C (p.Phe159Leu) c.314-1061T>C (n.314-1061T>C) c.198T>C n.748T>C n.715T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105504T>G | CA404077655 | LDLR | c.856T>G (p.Phe286Val) c.598T>G (p.Phe200Val) c.852T>G c.314-1888T>G (n.314-1888T>G) c.475T>G (p.Phe159Val) c.314-1061T>G (n.314-1061T>G) c.198T>G n.748T>G n.715T>G | |
19 | g.11105504T= | CA2322767525 | LDLR | c.856T= (p.Phe286=) c.598T= (p.Phe200=) c.852T= c.314-1888T= (n.314-1888T=) c.475T= (p.Phe159=) c.314-1061T= (n.314-1061T=) c.198T= n.748T= n.715T= | |
19 | g.11105505T>A | CA404077660 | LDLR | c.857T>A (p.Phe286Tyr) c.599T>A (p.Phe200Tyr) c.853T>A c.314-1887T>A (n.314-1887T>A) c.476T>A (p.Phe159Tyr) c.314-1060T>A (n.314-1060T>A) c.199T>A n.749T>A n.716T>A | |
19 | g.11105505T>C | CA404077663 | LDLR | c.857T>C (p.Phe286Ser) c.599T>C (p.Phe200Ser) c.853T>C c.314-1887T>C (n.314-1887T>C) c.476T>C (p.Phe159Ser) c.314-1060T>C (n.314-1060T>C) c.199T>C n.749T>C n.716T>C | |
19 | g.11105505T>G | CA10585004 | LDLR | c.857T>G (p.Phe286Cys) c.599T>G (p.Phe200Cys) c.853T>G c.314-1887T>G (n.314-1887T>G) c.476T>G (p.Phe159Cys) c.314-1060T>G (n.314-1060T>G) c.199T>G n.749T>G n.716T>G | ClinVar dbSNP |
19 | g.11105505T= | CA2322767526 | LDLR | c.857T= (p.Phe286=) c.599T= (p.Phe200=) c.853T= c.314-1887T= (n.314-1887T=) c.476T= (p.Phe159=) c.314-1060T= (n.314-1060T=) c.199T= n.749T= n.716T= | |
19 | g.11105505_11105506delinsTC | CA2322767527 | LDLR | c.857_858delinsTC (p.Phe286=) c.599_600delinsTC (p.Phe200=) c.853_854delinsTC c.314-1887_314-1886delinsTC (n.314-1887_314-1886delinsTC) c.476_477delinsTC (p.Phe159=) c.314-1060_314-1059delinsTC (n.314-1060_314-1059delinsTC) c.199_200delinsTC n.749_750delinsTC n.716_717delinsTC | |
19 | g.11105506del | CA10585006 | LDLR | c.858del (p.Phe286LeufsTer6) c.600del (p.Phe200LeufsTer6) c.854del c.314-1886del (n.314-1886del) c.477del (p.Phe159LeufsTer6) c.314-1059del (n.314-1059del) c.200del n.750del n.717del | ClinVar dbSNP |
19 | g.11105506C>A | CA10585005 | LDLR | c.858C>A (p.Phe286Leu) c.600C>A (p.Phe200Leu) c.854C>A c.314-1886C>A (n.314-1886C>A) c.477C>A (p.Phe159Leu) c.314-1059C>A (n.314-1059C>A) c.200C>A n.750C>A n.717C>A | ClinVar dbSNP |
19 | g.11105506C= | CA2322767528 | LDLR | c.858C= (p.Phe286=) c.600C= (p.Phe200=) c.854C= c.314-1886C= (n.314-1886C=) c.477C= (p.Phe159=) c.314-1059C= (n.314-1059C=) c.200C= n.750C= n.717C= | |
19 | g.11105506C>G | CA404077681 | LDLR | c.858C>G (p.Phe286Leu) c.600C>G (p.Phe200Leu) c.854C>G c.314-1886C>G (n.314-1886C>G) c.477C>G (p.Phe159Leu) c.314-1059C>G (n.314-1059C>G) c.200C>G n.750C>G n.717C>G | gnomAD v4 |
19 | g.11105506C>T | CA505743447 | LDLR | c.858C>T (p.Phe286=) c.600C>T (p.Phe200=) c.854C>T c.314-1886C>T (n.314-1886C>T) c.477C>T (p.Phe159=) c.314-1059C>T (n.314-1059C>T) c.200C>T n.750C>T n.717C>T | ClinVar gnomAD v4 |
19 | g.11105506dup | CA505743448 | LDLR | c.858dup (p.Glu287ArgfsTer17) c.600dup (p.Glu201ArgfsTer17) c.854dup c.314-1886dup (n.314-1886dup) c.477dup (p.Glu160ArgfsTer17) c.314-1059dup (n.314-1059dup) c.200dup n.750dup n.717dup | ClinVar COSMIC |
19 | g.11105507G>A | CA10585007 | LDLR | c.859G>A (p.Glu287Lys) c.601G>A (p.Glu201Lys) c.855G>A c.314-1885G>A (n.314-1885G>A) c.478G>A (p.Glu160Lys) c.314-1058G>A (n.314-1058G>A) c.201G>A n.751G>A n.718G>A | ClinVar dbSNP COSMIC |
19 | g.11105507G>C | CA404077691 | LDLR | c.859G>C (p.Glu287Gln) c.601G>C (p.Glu201Gln) c.855G>C c.314-1885G>C (n.314-1885G>C) c.478G>C (p.Glu160Gln) c.314-1058G>C (n.314-1058G>C) c.201G>C n.751G>C n.718G>C | ClinVar |
19 | g.11105507G= | CA2322767529 | LDLR | c.859G= (p.Glu287=) c.601G= (p.Glu201=) c.855G= c.314-1885G= (n.314-1885G=) c.478G= (p.Glu160=) c.314-1058G= (n.314-1058G=) c.201G= n.751G= n.718G= | |
19 | g.11105507G>T | CA404077696 | LDLR | c.859G>T (p.Glu287Ter) c.601G>T (p.Glu201Ter) c.855G>T c.314-1885G>T (n.314-1885G>T) c.478G>T (p.Glu160Ter) c.314-1058G>T (n.314-1058G>T) c.201G>T n.751G>T n.718G>T | |
19 | g.11105508A= | CA2322767530 | LDLR | c.860A= (p.Glu287=) c.602A= (p.Glu201=) c.856A= c.314-1884A= (n.314-1884A=) c.479A= (p.Glu160=) c.314-1057A= (n.314-1057A=) c.202A= n.752A= n.719A= | |
19 | g.11105508A>C | CA404077700 | LDLR | c.860A>C (p.Glu287Ala) c.602A>C (p.Glu201Ala) c.856A>C c.314-1884A>C (n.314-1884A>C) c.479A>C (p.Glu160Ala) c.314-1057A>C (n.314-1057A>C) c.202A>C n.752A>C n.719A>C | ClinVar dbSNP |
19 | g.11105508A>G | CA044113 | LDLR | c.860A>G (p.Glu287Gly) c.602A>G (p.Glu201Gly) c.856A>G c.314-1884A>G (n.314-1884A>G) c.479A>G (p.Glu160Gly) c.314-1057A>G (n.314-1057A>G) c.202A>G n.752A>G n.719A>G | dbSNP ExAC gnomAD v2 |
19 | g.11105508A>T | CA404077707 | LDLR | c.860A>T (p.Glu287Val) c.602A>T (p.Glu201Val) c.856A>T c.314-1884A>T (n.314-1884A>T) c.479A>T (p.Glu160Val) c.314-1057A>T (n.314-1057A>T) c.202A>T n.752A>T n.719A>T | |
19 | g.11105509G>A | CA505743450 | LDLR | c.861G>A (p.Glu287=) c.603G>A (p.Glu201=) c.857G>A c.314-1883G>A (n.314-1883G>A) c.480G>A (p.Glu160=) c.314-1056G>A (n.314-1056G>A) c.203G>A n.753G>A n.720G>A | ClinVar gnomAD v4 |
19 | g.11105509G>C | CA404077710 | LDLR | c.861G>C (p.Glu287Asp) c.603G>C (p.Glu201Asp) c.857G>C c.314-1883G>C (n.314-1883G>C) c.480G>C (p.Glu160Asp) c.314-1056G>C (n.314-1056G>C) c.203G>C n.753G>C n.720G>C | |
19 | g.11105509G>T | CA404077724 | LDLR | c.861G>T (p.Glu287Asp) c.603G>T (p.Glu201Asp) c.857G>T c.314-1883G>T (n.314-1883G>T) c.480G>T (p.Glu160Asp) c.314-1056G>T (n.314-1056G>T) c.203G>T n.753G>T n.720G>T | |
19 | g.11105510T>A | CA404077732 | LDLR | c.862T>A (p.Phe288Ile) c.604T>A (p.Phe202Ile) c.858T>A c.314-1882T>A (n.314-1882T>A) c.481T>A (p.Phe161Ile) c.314-1055T>A (n.314-1055T>A) c.204T>A n.754T>A n.721T>A | |
19 | g.11105510T>C | CA404077734 | LDLR | c.862T>C (p.Phe288Leu) c.604T>C (p.Phe202Leu) c.858T>C c.314-1882T>C (n.314-1882T>C) c.481T>C (p.Phe161Leu) c.314-1055T>C (n.314-1055T>C) c.204T>C n.754T>C n.721T>C | |
19 | g.11105510T>G | CA404077739 | LDLR | c.862T>G (p.Phe288Val) c.604T>G (p.Phe202Val) c.858T>G c.314-1882T>G (n.314-1882T>G) c.481T>G (p.Phe161Val) c.314-1055T>G (n.314-1055T>G) c.204T>G n.754T>G n.721T>G | |
19 | g.11105511T>A | CA404077742 | LDLR | c.863T>A (p.Phe288Tyr) c.605T>A (p.Phe202Tyr) c.859T>A c.314-1881T>A (n.314-1881T>A) c.482T>A (p.Phe161Tyr) c.314-1054T>A (n.314-1054T>A) c.205T>A n.755T>A n.722T>A | |
19 | g.11105511T>C | CA10585008 | LDLR | c.863T>C (p.Phe288Ser) c.605T>C (p.Phe202Ser) c.859T>C c.314-1881T>C (n.314-1881T>C) c.482T>C (p.Phe161Ser) c.314-1054T>C (n.314-1054T>C) c.205T>C n.755T>C n.722T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105511T>G | CA404077750 | LDLR | c.863T>G (p.Phe288Cys) c.605T>G (p.Phe202Cys) c.859T>G c.314-1881T>G (n.314-1881T>G) c.482T>G (p.Phe161Cys) c.314-1054T>G (n.314-1054T>G) c.205T>G n.755T>G n.722T>G | ClinVar dbSNP |
19 | g.11105511T= | CA2322767531 | LDLR | c.863T= (p.Phe288=) c.605T= (p.Phe202=) c.859T= c.314-1881T= (n.314-1881T=) c.482T= (p.Phe161=) c.314-1054T= (n.314-1054T=) c.205T= n.755T= n.722T= | |
19 | g.11105512C>A | CA404077755 | LDLR | c.864C>A (p.Phe288Leu) c.606C>A (p.Phe202Leu) c.860C>A c.314-1880C>A (n.314-1880C>A) c.483C>A (p.Phe161Leu) c.314-1053C>A (n.314-1053C>A) c.206C>A n.756C>A n.723C>A | |
19 | g.11105512C>G | CA404077758 | LDLR | c.864C>G (p.Phe288Leu) c.606C>G (p.Phe202Leu) c.860C>G c.314-1880C>G (n.314-1880C>G) c.483C>G (p.Phe161Leu) c.314-1053C>G (n.314-1053C>G) c.206C>G n.756C>G n.723C>G | |
19 | g.11105512C>T | CA505743451 | LDLR | c.864C>T (p.Phe288=) c.606C>T (p.Phe202=) c.860C>T c.314-1880C>T (n.314-1880C>T) c.483C>T (p.Phe161=) c.314-1053C>T (n.314-1053C>T) c.206C>T n.756C>T n.723C>T | |
19 | g.11105513del | CA2573155702 | LDLR | c.865del (p.His289ThrfsTer3) c.607del (p.His203ThrfsTer3) c.861del c.314-1879del (n.314-1879del) c.484del (p.His162ThrfsTer3) c.314-1052del (n.314-1052del) c.207del n.757del n.724del | ClinVar dbSNP |
19 | g.11105513C>A | CA404077763 | LDLR | c.865C>A (p.His289Asn) c.607C>A (p.His203Asn) c.861C>A c.314-1879C>A (n.314-1879C>A) c.484C>A (p.His162Asn) c.314-1052C>A (n.314-1052C>A) c.207C>A n.757C>A n.724C>A | |
19 | g.11105513C= | CA2322767532 | LDLR | c.865C= (p.His289=) c.607C= (p.His203=) c.861C= c.314-1879C= (n.314-1879C=) c.484C= (p.His162=) c.314-1052C= (n.314-1052C=) c.207C= n.757C= n.724C= | |
19 | g.11105513C>G | CA404077769 | LDLR | c.865C>G (p.His289Asp) c.607C>G (p.His203Asp) c.861C>G c.314-1879C>G (n.314-1879C>G) c.484C>G (p.His162Asp) c.314-1052C>G (n.314-1052C>G) c.207C>G n.757C>G n.724C>G | |
19 | g.11105513C>T | CA404077772 | LDLR | c.865C>T (p.His289Tyr) c.607C>T (p.His203Tyr) c.861C>T c.314-1879C>T (n.314-1879C>T) c.484C>T (p.His162Tyr) c.314-1052C>T (n.314-1052C>T) c.207C>T n.757C>T n.724C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105514A= | CA2322767533 | LDLR | c.866A= (p.His289=) c.608A= (p.His203=) c.862A= c.314-1878A= (n.314-1878A=) c.485A= (p.His162=) c.314-1051A= (n.314-1051A=) c.208A= n.758A= n.725A= | |
19 | g.11105514A>C | CA404077780 | LDLR | c.866A>C (p.His289Pro) c.608A>C (p.His203Pro) c.862A>C c.314-1878A>C (n.314-1878A>C) c.485A>C (p.His162Pro) c.314-1051A>C (n.314-1051A>C) c.208A>C n.758A>C n.725A>C | |
19 | g.11105514A>G | CA044122 | LDLR | c.866A>G (p.His289Arg) c.608A>G (p.His203Arg) c.862A>G c.314-1878A>G (n.314-1878A>G) c.485A>G (p.His162Arg) c.314-1051A>G (n.314-1051A>G) c.208A>G n.758A>G n.725A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105514A>T | CA404077786 | LDLR | c.866A>T (p.His289Leu) c.608A>T (p.His203Leu) c.862A>T c.314-1878A>T (n.314-1878A>T) c.485A>T (p.His162Leu) c.314-1051A>T (n.314-1051A>T) c.208A>T n.758A>T n.725A>T | |
19 | g.11105514_11105515delinsAC | CA2322767534 | LDLR | c.866_867delinsAC (p.His289=) c.608_609delinsAC (p.His203=) c.862_863delinsAC c.314-1878_314-1877delinsAC (n.314-1878_314-1877delinsAC) c.485_486delinsAC (p.His162=) c.314-1051_314-1050delinsAC (n.314-1051_314-1050delinsAC) c.208_209delinsAC n.758_759delinsAC n.725_726delinsAC | |
19 | g.11105515del | CA10585009 | LDLR | c.867del (p.Cys290AlafsTer2) c.609del (p.Cys204AlafsTer2) c.863del c.314-1877del (n.314-1877del) c.486del (p.Cys163AlafsTer2) c.314-1050del (n.314-1050del) c.209del n.759del n.726del | ClinVar dbSNP |
19 | g.11105515C>A | CA404077792 | LDLR | c.867C>A (p.His289Gln) c.609C>A (p.His203Gln) c.863C>A c.314-1877C>A (n.314-1877C>A) c.486C>A (p.His162Gln) c.314-1050C>A (n.314-1050C>A) c.209C>A n.759C>A n.726C>A | |
19 | g.11105515C>G | CA404077795 | LDLR | c.867C>G (p.His289Gln) c.609C>G (p.His203Gln) c.863C>G c.314-1877C>G (n.314-1877C>G) c.486C>G (p.His162Gln) c.314-1050C>G (n.314-1050C>G) c.209C>G n.759C>G n.726C>G | |
19 | g.11105515C>T | CA505743453 | LDLR | c.867C>T (p.His289=) c.609C>T (p.His203=) c.863C>T c.314-1877C>T (n.314-1877C>T) c.486C>T (p.His162=) c.314-1050C>T (n.314-1050C>T) c.209C>T n.759C>T n.726C>T | |
19 | g.11105516T>A | CA404077803 | LDLR | c.868T>A (p.Cys290Ser) c.610T>A (p.Cys204Ser) c.864T>A c.314-1876T>A (n.314-1876T>A) c.487T>A (p.Cys163Ser) c.314-1049T>A (n.314-1049T>A) c.210T>A n.760T>A n.727T>A | |
19 | g.11105516T>C | CA404077804 | LDLR | c.868T>C (p.Cys290Arg) c.610T>C (p.Cys204Arg) c.864T>C c.314-1876T>C (n.314-1876T>C) c.487T>C (p.Cys163Arg) c.314-1049T>C (n.314-1049T>C) c.210T>C n.760T>C n.727T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105516T>G | CA16602302 | LDLR | c.868T>G (p.Cys290Gly) c.610T>G (p.Cys204Gly) c.864T>G c.314-1876T>G (n.314-1876T>G) c.487T>G (p.Cys163Gly) c.314-1049T>G (n.314-1049T>G) c.210T>G n.760T>G n.727T>G | ClinVar dbSNP |
19 | g.11105516T= | CA2322767535 | LDLR | c.868T= (p.Cys290=) c.610T= (p.Cys204=) c.864T= c.314-1876T= (n.314-1876T=) c.487T= (p.Cys163=) c.314-1049T= (n.314-1049T=) c.210T= n.760T= n.727T= | |
19 | g.11105517G>A | CA10585010 | LDLR | c.869G>A (p.Cys290Tyr) c.611G>A (p.Cys204Tyr) c.865G>A c.314-1875G>A (n.314-1875G>A) c.488G>A (p.Cys163Tyr) c.314-1048G>A (n.314-1048G>A) c.211G>A n.761G>A n.728G>A | ClinVar dbSNP |
19 | g.11105517G>C | CA10585011 | LDLR | c.869G>C (p.Cys290Ser) c.611G>C (p.Cys204Ser) c.865G>C c.314-1875G>C (n.314-1875G>C) c.488G>C (p.Cys163Ser) c.314-1048G>C (n.314-1048G>C) c.211G>C n.761G>C n.728G>C | ClinVar dbSNP |
19 | g.11105517G= | CA2322767536 | LDLR | c.869G= (p.Cys290=) c.611G= (p.Cys204=) c.865G= c.314-1875G= (n.314-1875G=) c.488G= (p.Cys163=) c.314-1048G= (n.314-1048G=) c.211G= n.761G= n.728G= | |
19 | g.11105517G>T | CA10585012 | LDLR | c.869G>T (p.Cys290Phe) c.611G>T (p.Cys204Phe) c.865G>T c.314-1875G>T (n.314-1875G>T) c.488G>T (p.Cys163Phe) c.314-1048G>T (n.314-1048G>T) c.211G>T n.761G>T n.728G>T | ClinVar dbSNP |
19 | g.11105518C>A | CA404077821 | LDLR | c.870C>A (p.Cys290Ter) c.612C>A (p.Cys204Ter) c.866C>A c.314-1874C>A (n.314-1874C>A) c.489C>A (p.Cys163Ter) c.314-1047C>A (n.314-1047C>A) c.212C>A n.762C>A n.729C>A | ClinVar dbSNP |
19 | g.11105518C= | CA2322767537 | LDLR | c.870C= (p.Cys290=) c.612C= (p.Cys204=) c.866C= c.314-1874C= (n.314-1874C=) c.489C= (p.Cys163=) c.314-1047C= (n.314-1047C=) c.212C= n.762C= n.729C= | |
19 | g.11105518C>G | CA404077818 | LDLR | c.870C>G (p.Cys290Trp) c.612C>G (p.Cys204Trp) c.866C>G c.314-1874C>G (n.314-1874C>G) c.489C>G (p.Cys163Trp) c.314-1047C>G (n.314-1047C>G) c.212C>G n.762C>G n.729C>G | |
19 | g.11105518C>T | CA505743455 | LDLR | c.870C>T (p.Cys290=) c.612C>T (p.Cys204=) c.866C>T c.314-1874C>T (n.314-1874C>T) c.489C>T (p.Cys163=) c.314-1047C>T (n.314-1047C>T) c.212C>T n.762C>T n.729C>T | |
19 | g.11105519C>A | CA404077824 | LDLR | c.871C>A (p.Leu291Ile) c.613C>A (p.Leu205Ile) c.867C>A c.314-1873C>A (n.314-1873C>A) c.490C>A (p.Leu164Ile) c.314-1046C>A (n.314-1046C>A) c.213C>A n.763C>A n.730C>A | |
19 | g.11105519C= | CA2322767538 | LDLR | c.871C= (p.Leu291=) c.613C= (p.Leu205=) c.867C= c.314-1873C= (n.314-1873C=) c.490C= (p.Leu164=) c.314-1046C= (n.314-1046C=) c.213C= n.763C= n.730C= | |
19 | g.11105519C>G | CA404077826 | LDLR | c.871C>G (p.Leu291Val) c.613C>G (p.Leu205Val) c.867C>G c.314-1873C>G (n.314-1873C>G) c.490C>G (p.Leu164Val) c.314-1046C>G (n.314-1046C>G) c.213C>G n.763C>G n.730C>G | ClinVar dbSNP |
19 | g.11105519C>T | CA505743457 | LDLR | c.871C>T (p.Leu291=) c.613C>T (p.Leu205=) c.867C>T c.314-1873C>T (n.314-1873C>T) c.490C>T (p.Leu164=) c.314-1046C>T (n.314-1046C>T) c.213C>T n.763C>T n.730C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105520T>A | CA404077832 | LDLR | c.872T>A (p.Leu291Gln) c.614T>A (p.Leu205Gln) c.868T>A c.314-1872T>A (n.314-1872T>A) c.491T>A (p.Leu164Gln) c.314-1045T>A (n.314-1045T>A) c.214T>A n.764T>A n.731T>A | gnomAD v4 |
19 | g.11105520T>C | CA404077837 | LDLR | c.872T>C (p.Leu291Pro) c.614T>C (p.Leu205Pro) c.868T>C c.314-1872T>C (n.314-1872T>C) c.491T>C (p.Leu164Pro) c.314-1045T>C (n.314-1045T>C) c.214T>C n.764T>C n.731T>C | |
19 | g.11105520T>G | CA404077840 | LDLR | c.872T>G (p.Leu291Arg) c.614T>G (p.Leu205Arg) c.868T>G c.314-1872T>G (n.314-1872T>G) c.491T>G (p.Leu164Arg) c.314-1045T>G (n.314-1045T>G) c.214T>G n.764T>G n.731T>G | |
19 | g.11105520T= | CA2322767539 | LDLR | c.872T= (p.Leu291=) c.614T= (p.Leu205=) c.868T= c.314-1872T= (n.314-1872T=) c.491T= (p.Leu164=) c.314-1045T= (n.314-1045T=) c.214T= n.764T= n.731T= | |
19 | g.11105521A>C | CA505743458 | LDLR | c.873A>C (p.Leu291=) c.615A>C (p.Leu205=) c.869A>C c.314-1871A>C (n.314-1871A>C) c.492A>C (p.Leu164=) c.314-1044A>C (n.314-1044A>C) c.215A>C n.765A>C n.732A>C | |
19 | g.11105521A>G | CA505743459 | LDLR | c.873A>G (p.Leu291=) c.615A>G (p.Leu205=) c.869A>G c.314-1871A>G (n.314-1871A>G) c.492A>G (p.Leu164=) c.314-1044A>G (n.314-1044A>G) c.215A>G n.765A>G n.732A>G | |
19 | g.11105521A>T | CA505743460 | LDLR | c.873A>T (p.Leu291=) c.615A>T (p.Leu205=) c.869A>T c.314-1871A>T (n.314-1871A>T) c.492A>T (p.Leu164=) c.314-1044A>T (n.314-1044A>T) c.215A>T n.765A>T n.732A>T | |
19 | g.11105522dup | CA10585013 | LDLR | c.874dup (p.Ser292LysfsTer12) c.616dup (p.Ser206LysfsTer12) c.870dup c.314-1870dup (n.314-1870dup) c.493dup (p.Ser165LysfsTer12) c.314-1043dup (n.314-1043dup) c.216dup n.766dup n.733dup | ClinVar dbSNP gnomAD v4 |
19 | g.11105522del | CA2573050577 | LDLR | c.874del (p.Ser292ValfsTer?) c.616del (p.Ser206ValfsTer?) c.870del c.314-1870del (n.314-1870del) c.493del (p.Ser165ValfsTer?) c.314-1043del (n.314-1043del) c.216del n.766del n.733del | |
19 | g.11105521_11105542delinsAAGTGGCGAGTGCATCCACTCC | CA2322767540 | LDLR | c.873_894delinsAAGTGGCGAGTGCATCCACTCC (p.Leu291=) c.615_636delinsAAGTGGCGAGTGCATCCACTCC (p.Leu205=) c.869_890delinsAAGTGGCGAGTGCATCCACTCC c.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC (n.314-1871_314-1850delinsAAGTGGCGAGTGCATCCACTCC) c.492_513delinsAAGTGGCGAGTGCATCCACTCC (p.Leu164=) c.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC (n.314-1044_314-1023delinsAAGTGGCGAGTGCATCCACTCC) c.215_236delinsAAGTGGCGAGTGCATCCACTCC n.765_786delinsAAGTGGCGAGTGCATCCACTCC n.732_753delinsAAGTGGCGAGTGCATCCACTCC | |
19 | g.11105522A= | CA2322767542 | LDLR | c.874A= (p.Ser292=) c.616A= (p.Ser206=) c.870A= c.314-1870A= (n.314-1870A=) c.493A= (p.Ser165=) c.314-1043A= (n.314-1043A=) c.216A= n.766A= n.733A= | |
19 | g.11105522A>C | CA404077844 | LDLR | c.874A>C (p.Ser292Arg) c.616A>C (p.Ser206Arg) c.870A>C c.314-1870A>C (n.314-1870A>C) c.493A>C (p.Ser165Arg) c.314-1043A>C (n.314-1043A>C) c.216A>C n.766A>C n.733A>C | ClinVar dbSNP |
19 | g.11105522A>G | CA404077847 | LDLR | c.874A>G (p.Ser292Gly) c.616A>G (p.Ser206Gly) c.870A>G c.314-1870A>G (n.314-1870A>G) c.493A>G (p.Ser165Gly) c.314-1043A>G (n.314-1043A>G) c.216A>G n.766A>G n.733A>G | |
19 | g.11105522A>T | CA404077848 | LDLR | c.874A>T (p.Ser292Cys) c.616A>T (p.Ser206Cys) c.870A>T c.314-1870A>T (n.314-1870A>T) c.493A>T (p.Ser165Cys) c.314-1043A>T (n.314-1043A>T) c.216A>T n.766A>T n.733A>T | |
19 | g.11105522_11105523delinsAG | CA2322767541 | LDLR | c.874_875delinsAG (p.Ser292=) c.616_617delinsAG (p.Ser206=) c.870_871delinsAG c.314-1870_314-1869delinsAG (n.314-1870_314-1869delinsAG) c.493_494delinsAG (p.Ser165=) c.314-1043_314-1042delinsAG (n.314-1043_314-1042delinsAG) c.216_217delinsAG n.766_767delinsAG n.733_734delinsAG | |
19 | g.11105526_11105532del | CA2497030124 | LDLR | c.878_884del (p.Gly293AlafsTer?) c.620_626del (p.Gly207AlafsTer?) c.874_880del c.314-1866_314-1860del (n.314-1866_314-1860del) c.497_503del (p.Gly166AlafsTer?) c.314-1039_314-1033del (n.314-1039_314-1033del) c.220_226del n.770_776del n.737_743del | ClinVar dbSNP |
19 | g.11105524_11105544del | CA10588893 | LDLR | c.876_896del (p.Gly293_Ser299del) c.618_638del (p.Gly207_Ser213del) c.872_892del c.314-1868_314-1848del (n.314-1868_314-1848del) c.495_515del (p.Gly166_Ser172del) c.314-1041_314-1021del (n.314-1041_314-1021del) c.218_238del n.768_788del n.735_755del | ClinVar dbSNP |
19 | g.11105523del | CA10585014 | LDLR | c.875del (p.Ser292MetfsTer?) c.617del (p.Ser206MetfsTer?) c.871del c.314-1869del (n.314-1869del) c.494del (p.Ser165MetfsTer?) c.314-1042del (n.314-1042del) c.217del n.767del n.734del | ClinVar dbSNP |
19 | g.11105523G>A | CA404077856 | LDLR | c.875G>A (p.Ser292Asn) c.617G>A (p.Ser206Asn) c.871G>A c.314-1869G>A (n.314-1869G>A) c.494G>A (p.Ser165Asn) c.314-1042G>A (n.314-1042G>A) c.217G>A n.767G>A n.734G>A | |
19 | g.11105523G>C | CA404077863 | LDLR | c.875G>C (p.Ser292Thr) c.617G>C (p.Ser206Thr) c.871G>C c.314-1869G>C (n.314-1869G>C) c.494G>C (p.Ser165Thr) c.314-1042G>C (n.314-1042G>C) c.217G>C n.767G>C n.734G>C | |
19 | g.11105523G>T | CA404077868 | LDLR | c.875G>T (p.Ser292Ile) c.617G>T (p.Ser206Ile) c.871G>T c.314-1869G>T (n.314-1869G>T) c.494G>T (p.Ser165Ile) c.314-1042G>T (n.314-1042G>T) c.217G>T n.767G>T n.734G>T | gnomAD v4 COSMIC |
19 | g.11105523_11105545delinsGTGGCGAGTGCATCCACTCCAGC | CA2322767543 | LDLR | c.875_897delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser292=) c.617_639delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser206=) c.871_893delinsGTGGCGAGTGCATCCACTCCAGC c.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC (n.314-1869_314-1847delinsGTGGCGAGTGCATCCACTCCAGC) c.494_516delinsGTGGCGAGTGCATCCACTCCAGC (p.Ser165=) c.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC (n.314-1042_314-1020delinsGTGGCGAGTGCATCCACTCCAGC) c.217_239delinsGTGGCGAGTGCATCCACTCCAGC n.767_789delinsGTGGCGAGTGCATCCACTCCAGC n.734_756delinsGTGGCGAGTGCATCCACTCCAGC | |
19 | g.11105524T>A | CA404077879 | LDLR | c.876T>A (p.Ser292Arg) c.618T>A (p.Ser206Arg) c.872T>A c.314-1868T>A (n.314-1868T>A) c.495T>A (p.Ser165Arg) c.314-1041T>A (n.314-1041T>A) c.218T>A n.768T>A n.735T>A | ClinVar dbSNP |
19 | g.11105524T>C | CA505743464 | LDLR | c.876T>C (p.Ser292=) c.618T>C (p.Ser206=) c.872T>C c.314-1868T>C (n.314-1868T>C) c.495T>C (p.Ser165=) c.314-1041T>C (n.314-1041T>C) c.218T>C n.768T>C n.735T>C | |
19 | g.11105524T>G | CA10585015 | LDLR | c.876T>G (p.Ser292Arg) c.618T>G (p.Ser206Arg) c.872T>G c.314-1868T>G (n.314-1868T>G) c.495T>G (p.Ser165Arg) c.314-1041T>G (n.314-1041T>G) c.218T>G n.768T>G n.735T>G | ClinVar dbSNP |
19 | g.11105524T= | CA2322767544 | LDLR | c.876T= (p.Ser292=) c.618T= (p.Ser206=) c.872T= c.314-1868T= (n.314-1868T=) c.495T= (p.Ser165=) c.314-1041T= (n.314-1041T=) c.218T= n.768T= n.735T= | |
19 | g.11105524_11105545delinsTGGCGAGTGCATCCACTCCAGC | CA2322767545 | LDLR | c.876_897delinsTGGCGAGTGCATCCACTCCAGC (p.Ser292=) c.618_639delinsTGGCGAGTGCATCCACTCCAGC (p.Ser206=) c.872_893delinsTGGCGAGTGCATCCACTCCAGC c.314-1868_314-1847delinsTGGCGAGTGCATCCACTCCAGC (n.314-1868_314-1847delinsTGGCGAGTGCATCCACTCCAGC) c.495_516delinsTGGCGAGTGCATCCACTCCAGC (p.Ser165=) c.314-1041_314-1020delinsTGGCGAGTGCATCCACTCCAGC (n.314-1041_314-1020delinsTGGCGAGTGCATCCACTCCAGC) c.218_239delinsTGGCGAGTGCATCCACTCCAGC n.768_789delinsTGGCGAGTGCATCCACTCCAGC n.735_756delinsTGGCGAGTGCATCCACTCCAGC | |
19 | g.11105529_11105550del | CA10585020 | LDLR | c.881_902del (p.Glu294AlafsTer?) c.623_644del (p.Glu208AlafsTer?) c.877_898del c.314-1863_314-1842del (n.314-1863_314-1842del) c.500_521del (p.Glu167AlafsTer?) c.314-1036_314-1015del (n.314-1036_314-1015del) c.223_244del n.773_794del n.740_761del | ClinVar dbSNP |
19 | g.11105525G>A | CA404077884 | LDLR | c.877G>A (p.Gly293Ser) c.619G>A (p.Gly207Ser) c.873G>A c.314-1867G>A (n.314-1867G>A) c.496G>A (p.Gly166Ser) c.314-1040G>A (n.314-1040G>A) c.219G>A n.769G>A n.736G>A | gnomAD v4 |
19 | g.11105525G>C | CA404077888 | LDLR | c.877G>C (p.Gly293Arg) c.619G>C (p.Gly207Arg) c.873G>C c.314-1867G>C (n.314-1867G>C) c.496G>C (p.Gly166Arg) c.314-1040G>C (n.314-1040G>C) c.219G>C n.769G>C n.736G>C | |
19 | g.11105525G>T | CA404077900 | LDLR | c.877G>T (p.Gly293Cys) c.619G>T (p.Gly207Cys) c.873G>T c.314-1867G>T (n.314-1867G>T) c.496G>T (p.Gly166Cys) c.314-1040G>T (n.314-1040G>T) c.219G>T n.769G>T n.736G>T | ClinVar dbSNP |
19 | g.11105525_11105545del | CA10585016 | LDLR | c.877_897del (p.Gly293_Ser299del) c.619_639del (p.Gly207_Ser213del) c.873_893del c.314-1867_314-1847del (n.314-1867_314-1847del) c.496_516del (p.Gly166_Ser172del) c.314-1040_314-1020del (n.314-1040_314-1020del) c.219_239del n.769_789del n.736_756del | ClinVar dbSNP |
19 | g.11105526G>A | CA044132 | LDLR | c.878G>A (p.Gly293Asp) c.620G>A (p.Gly207Asp) c.874G>A c.314-1866G>A (n.314-1866G>A) c.497G>A (p.Gly166Asp) c.314-1039G>A (n.314-1039G>A) c.220G>A n.770G>A n.737G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105526G>C | CA404077907 | LDLR | c.878G>C (p.Gly293Ala) c.620G>C (p.Gly207Ala) c.874G>C c.314-1866G>C (n.314-1866G>C) c.497G>C (p.Gly166Ala) c.314-1039G>C (n.314-1039G>C) c.220G>C n.770G>C n.737G>C | |
19 | g.11105526G= | CA2322767546 | LDLR | c.878G= (p.Gly293=) c.620G= (p.Gly207=) c.874G= c.314-1866G= (n.314-1866G=) c.497G= (p.Gly166=) c.314-1039G= (n.314-1039G=) c.220G= n.770G= n.737G= | |
19 | g.11105526G>T | CA404077910 | LDLR | c.878G>T (p.Gly293Val) c.620G>T (p.Gly207Val) c.874G>T c.314-1866G>T (n.314-1866G>T) c.497G>T (p.Gly166Val) c.314-1039G>T (n.314-1039G>T) c.220G>T n.770G>T n.737G>T | |
19 | g.11105527C>A | CA505743468 | LDLR | c.879C>A (p.Gly293=) c.621C>A (p.Gly207=) c.875C>A c.314-1865C>A (n.314-1865C>A) c.498C>A (p.Gly166=) c.314-1038C>A (n.314-1038C>A) c.221C>A n.771C>A n.738C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105527C= | CA2322767547 | LDLR | c.879C= (p.Gly293=) c.621C= (p.Gly207=) c.875C= c.314-1865C= (n.314-1865C=) c.498C= (p.Gly166=) c.314-1038C= (n.314-1038C=) c.221C= n.771C= n.738C= | |
19 | g.11105527C>G | CA10585017 | LDLR | c.879C>G (p.Gly293=) c.621C>G (p.Gly207=) c.875C>G c.314-1865C>G (n.314-1865C>G) c.498C>G (p.Gly166=) c.314-1038C>G (n.314-1038C>G) c.221C>G n.771C>G n.738C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105527C>T | CA023732 | LDLR | c.879C>T (p.Gly293=) c.621C>T (p.Gly207=) c.875C>T c.314-1865C>T (n.314-1865C>T) c.498C>T (p.Gly166=) c.314-1038C>T (n.314-1038C>T) c.221C>T n.771C>T n.738C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105528G>A | CA10585018 | LDLR | c.880G>A (p.Glu294Lys) c.622G>A (p.Glu208Lys) c.876G>A c.314-1864G>A (n.314-1864G>A) c.499G>A (p.Glu167Lys) c.314-1037G>A (n.314-1037G>A) c.222G>A n.772G>A n.739G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105528G>C | CA404077918 | LDLR | c.880G>C (p.Glu294Gln) c.622G>C (p.Glu208Gln) c.876G>C c.314-1864G>C (n.314-1864G>C) c.499G>C (p.Glu167Gln) c.314-1037G>C (n.314-1037G>C) c.222G>C n.772G>C n.739G>C | |
19 | g.11105528G= | CA2322767548 | LDLR | c.880G= (p.Glu294=) c.622G= (p.Glu208=) c.876G= c.314-1864G= (n.314-1864G=) c.499G= (p.Glu167=) c.314-1037G= (n.314-1037G=) c.222G= n.772G= n.739G= | |
19 | g.11105528G>T | CA10585019 | LDLR | c.880G>T (p.Glu294Ter) c.622G>T (p.Glu208Ter) c.876G>T c.314-1864G>T (n.314-1864G>T) c.499G>T (p.Glu167Ter) c.314-1037G>T (n.314-1037G>T) c.222G>T n.772G>T n.739G>T | ClinVar dbSNP |
19 | g.11105529A= | CA2322767549 | LDLR | c.881A= (p.Glu294=) c.623A= (p.Glu208=) c.877A= c.314-1863A= (n.314-1863A=) c.500A= (p.Glu167=) c.314-1036A= (n.314-1036A=) c.223A= n.773A= n.740A= | |
19 | g.11105529A>C | CA404077933 | LDLR | c.881A>C (p.Glu294Ala) c.623A>C (p.Glu208Ala) c.877A>C c.314-1863A>C (n.314-1863A>C) c.500A>C (p.Glu167Ala) c.314-1036A>C (n.314-1036A>C) c.223A>C n.773A>C n.740A>C | |
19 | g.11105529A>G | CA404077925 | LDLR | c.881A>G (p.Glu294Gly) c.623A>G (p.Glu208Gly) c.877A>G c.314-1863A>G (n.314-1863A>G) c.500A>G (p.Glu167Gly) c.314-1036A>G (n.314-1036A>G) c.223A>G n.773A>G n.740A>G | |
19 | g.11105529A>T | CA404077929 | LDLR | c.881A>T (p.Glu294Val) c.623A>T (p.Glu208Val) c.877A>T c.314-1863A>T (n.314-1863A>T) c.500A>T (p.Glu167Val) c.314-1036A>T (n.314-1036A>T) c.223A>T n.773A>T n.740A>T | |
19 | g.11105530G>A | CA505743472 | LDLR | c.882G>A (p.Glu294=) c.624G>A (p.Glu208=) c.878G>A c.314-1862G>A (n.314-1862G>A) c.501G>A (p.Glu167=) c.314-1035G>A (n.314-1035G>A) c.224G>A n.774G>A n.741G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105530G>C | CA404077939 | LDLR | c.882G>C (p.Glu294Asp) c.624G>C (p.Glu208Asp) c.878G>C c.314-1862G>C (n.314-1862G>C) c.501G>C (p.Glu167Asp) c.314-1035G>C (n.314-1035G>C) c.224G>C n.774G>C n.741G>C | |
19 | g.11105530G= | CA2322767550 | LDLR | c.882G= (p.Glu294=) c.624G= (p.Glu208=) c.878G= c.314-1862G= (n.314-1862G=) c.501G= (p.Glu167=) c.314-1035G= (n.314-1035G=) c.224G= n.774G= n.741G= | |
19 | g.11105530G>T | CA404077942 | LDLR | c.882G>T (p.Glu294Asp) c.624G>T (p.Glu208Asp) c.878G>T c.314-1862G>T (n.314-1862G>T) c.501G>T (p.Glu167Asp) c.314-1035G>T (n.314-1035G>T) c.224G>T n.774G>T n.741G>T | |
19 | g.11105531_11105532dup | CA10585021 | LDLR | c.883_884dup (p.Ile296AlafsTer?) c.625_626dup (p.Ile210AlafsTer?) c.879_880dup c.314-1861_314-1860dup (n.314-1861_314-1860dup) c.502_503dup (p.Ile169AlafsTer?) c.314-1034_314-1033dup (n.314-1034_314-1033dup) c.225_226dup n.775_776dup n.742_743dup | ClinVar dbSNP |
19 | g.11105531T>A | CA404077950 | LDLR | c.883T>A (p.Cys295Ser) c.625T>A (p.Cys209Ser) c.879T>A c.314-1861T>A (n.314-1861T>A) c.502T>A (p.Cys168Ser) c.314-1034T>A (n.314-1034T>A) c.225T>A n.775T>A n.742T>A | |
19 | g.11105531T>C | CA404077954 | LDLR | c.883T>C (p.Cys295Arg) c.625T>C (p.Cys209Arg) c.879T>C c.314-1861T>C (n.314-1861T>C) c.502T>C (p.Cys168Arg) c.314-1034T>C (n.314-1034T>C) c.225T>C n.775T>C n.742T>C | |
19 | g.11105531T>G | CA404077955 | LDLR | c.883T>G (p.Cys295Gly) c.625T>G (p.Cys209Gly) c.879T>G c.314-1861T>G (n.314-1861T>G) c.502T>G (p.Cys168Gly) c.314-1034T>G (n.314-1034T>G) c.225T>G n.775T>G n.742T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105531T= | CA2322767551 | LDLR | c.883T= (p.Cys295=) c.625T= (p.Cys209=) c.879T= c.314-1861T= (n.314-1861T=) c.502T= (p.Cys168=) c.314-1034T= (n.314-1034T=) c.225T= n.775T= n.742T= | |
19 | g.11105532G>A | CA10585022 | LDLR | c.884G>A (p.Cys295Tyr) c.626G>A (p.Cys209Tyr) c.880G>A c.314-1860G>A (n.314-1860G>A) c.503G>A (p.Cys168Tyr) c.314-1033G>A (n.314-1033G>A) c.226G>A n.776G>A n.743G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105532G>C | CA404077962 | LDLR | c.884G>C (p.Cys295Ser) c.626G>C (p.Cys209Ser) c.880G>C c.314-1860G>C (n.314-1860G>C) c.503G>C (p.Cys168Ser) c.314-1033G>C (n.314-1033G>C) c.226G>C n.776G>C n.743G>C | |
19 | g.11105532G= | CA2322767552 | LDLR | c.884G= (p.Cys295=) c.626G= (p.Cys209=) c.880G= c.314-1860G= (n.314-1860G=) c.503G= (p.Cys168=) c.314-1033G= (n.314-1033G=) c.226G= n.776G= n.743G= | |
19 | g.11105532G>T | CA404077959 | LDLR | c.884G>T (p.Cys295Phe) c.626G>T (p.Cys209Phe) c.880G>T c.314-1860G>T (n.314-1860G>T) c.503G>T (p.Cys168Phe) c.314-1033G>T (n.314-1033G>T) c.226G>T n.776G>T n.743G>T | |
19 | g.11105534_11105549dup | CA2695223205 | LDLR | c.886_901dup (p.Arg301HisfsTer8) c.628_643dup (p.Arg215HisfsTer8) c.882_897dup c.314-1858_314-1843dup (n.314-1858_314-1843dup) c.505_520dup (p.Arg174HisfsTer8) c.314-1031_314-1016dup (n.314-1031_314-1016dup) c.228_243dup n.778_793dup n.745_760dup | |
19 | g.11105533C>A | CA404077967 | LDLR | c.885C>A (p.Cys295Ter) c.627C>A (p.Cys209Ter) c.881C>A c.314-1859C>A (n.314-1859C>A) c.504C>A (p.Cys168Ter) c.314-1032C>A (n.314-1032C>A) c.227C>A n.777C>A n.744C>A | |
19 | g.11105533C>G | CA404077971 | LDLR | c.885C>G (p.Cys295Trp) c.627C>G (p.Cys209Trp) c.881C>G c.314-1859C>G (n.314-1859C>G) c.504C>G (p.Cys168Trp) c.314-1032C>G (n.314-1032C>G) c.227C>G n.777C>G n.744C>G | |
19 | g.11105533C>T | CA505743474 | LDLR | c.885C>T (p.Cys295=) c.627C>T (p.Cys209=) c.881C>T c.314-1859C>T (n.314-1859C>T) c.504C>T (p.Cys168=) c.314-1032C>T (n.314-1032C>T) c.227C>T n.777C>T n.744C>T | ClinVar dbSNP |
19 | g.11105534A= | CA2322767553 | LDLR | c.886A= (p.Ile296=) c.628A= (p.Ile210=) c.882A= c.314-1858A= (n.314-1858A=) c.505A= (p.Ile169=) c.314-1031A= (n.314-1031A=) c.228A= n.778A= n.745A= | |
19 | g.11105534A>C | CA404077978 | LDLR | c.886A>C (p.Ile296Leu) c.628A>C (p.Ile210Leu) c.882A>C c.314-1858A>C (n.314-1858A>C) c.505A>C (p.Ile169Leu) c.314-1031A>C (n.314-1031A>C) c.228A>C n.778A>C n.745A>C | ClinVar dbSNP |
19 | g.11105534A>G | CA404077981 | LDLR | c.886A>G (p.Ile296Val) c.628A>G (p.Ile210Val) c.882A>G c.314-1858A>G (n.314-1858A>G) c.505A>G (p.Ile169Val) c.314-1031A>G (n.314-1031A>G) c.228A>G n.778A>G n.745A>G | gnomAD v4 |
19 | g.11105534A>T | CA404077983 | LDLR | c.886A>T (p.Ile296Phe) c.628A>T (p.Ile210Phe) c.882A>T c.314-1858A>T (n.314-1858A>T) c.505A>T (p.Ile169Phe) c.314-1031A>T (n.314-1031A>T) c.228A>T n.778A>T n.745A>T | gnomAD v4 |
19 | g.11105535T>A | CA10585023 | LDLR | c.887T>A (p.Ile296Asn) c.629T>A (p.Ile210Asn) c.883T>A c.314-1857T>A (n.314-1857T>A) c.506T>A (p.Ile169Asn) c.314-1030T>A (n.314-1030T>A) c.229T>A n.779T>A n.746T>A | ClinVar dbSNP |
19 | g.11105535T>C | CA16602303 | LDLR | c.887T>C (p.Ile296Thr) c.629T>C (p.Ile210Thr) c.883T>C c.314-1857T>C (n.314-1857T>C) c.506T>C (p.Ile169Thr) c.314-1030T>C (n.314-1030T>C) c.229T>C n.779T>C n.746T>C | ClinVar dbSNP |
19 | g.11105535T>G | CA404078014 | LDLR | c.887T>G (p.Ile296Ser) c.629T>G (p.Ile210Ser) c.883T>G c.314-1857T>G (n.314-1857T>G) c.506T>G (p.Ile169Ser) c.314-1030T>G (n.314-1030T>G) c.229T>G n.779T>G n.746T>G | |
19 | g.11105535T= | CA2322767554 | LDLR | c.887T= (p.Ile296=) c.629T= (p.Ile210=) c.883T= c.314-1857T= (n.314-1857T=) c.506T= (p.Ile169=) c.314-1030T= (n.314-1030T=) c.229T= n.779T= n.746T= | |
19 | g.11105536C>A | CA505743476 | LDLR | c.888C>A (p.Ile296=) c.630C>A (p.Ile210=) c.884C>A c.314-1856C>A (n.314-1856C>A) c.507C>A (p.Ile169=) c.314-1029C>A (n.314-1029C>A) c.230C>A n.780C>A n.747C>A | |
19 | g.11105536C= | CA2322767555 | LDLR | c.888C= (p.Ile296=) c.630C= (p.Ile210=) c.884C= c.314-1856C= (n.314-1856C=) c.507C= (p.Ile169=) c.314-1029C= (n.314-1029C=) c.230C= n.780C= n.747C= | |
19 | g.11105536C>G | CA404078021 | LDLR | c.888C>G (p.Ile296Met) c.630C>G (p.Ile210Met) c.884C>G c.314-1856C>G (n.314-1856C>G) c.507C>G (p.Ile169Met) c.314-1029C>G (n.314-1029C>G) c.230C>G n.780C>G n.747C>G | |
19 | g.11105536C>T | CA505743477 | LDLR | c.888C>T (p.Ile296=) c.630C>T (p.Ile210=) c.884C>T c.314-1856C>T (n.314-1856C>T) c.507C>T (p.Ile169=) c.314-1029C>T (n.314-1029C>T) c.230C>T n.780C>T n.747C>T | ClinVar dbSNP |
19 | g.11105537del | CA2825002704 | LDLR | c.889del (p.His297ThrfsTer?) c.631del (p.His211ThrfsTer?) c.885del c.314-1855del (n.314-1855del) c.508del (p.His170ThrfsTer?) c.314-1028del (n.314-1028del) c.231del n.781del n.748del | ClinVar |
19 | g.11105537C>A | CA404078033 | LDLR | c.889C>A (p.His297Asn) c.631C>A (p.His211Asn) c.885C>A c.314-1855C>A (n.314-1855C>A) c.508C>A (p.His170Asn) c.314-1028C>A (n.314-1028C>A) c.231C>A n.781C>A n.748C>A | |
19 | g.11105537C= | CA2322767557 | LDLR | c.889C= (p.His297=) c.631C= (p.His211=) c.885C= c.314-1855C= (n.314-1855C=) c.508C= (p.His170=) c.314-1028C= (n.314-1028C=) c.231C= n.781C= n.748C= | |
19 | g.11105537C>G | CA10585024 | LDLR | c.889C>G (p.His297Asp) c.631C>G (p.His211Asp) c.885C>G c.314-1855C>G (n.314-1855C>G) c.508C>G (p.His170Asp) c.314-1028C>G (n.314-1028C>G) c.231C>G n.781C>G n.748C>G | ClinVar dbSNP |
19 | g.11105537C>T | CA044139 | LDLR | c.889C>T (p.His297Tyr) c.631C>T (p.His211Tyr) c.885C>T c.314-1855C>T (n.314-1855C>T) c.508C>T (p.His170Tyr) c.314-1028C>T (n.314-1028C>T) c.231C>T n.781C>T n.748C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105537_11105540delinsCACT | CA2322767556 | LDLR | c.889_892delinsCACT (p.His297=) c.631_634delinsCACT (p.His211=) c.885_888delinsCACT c.314-1855_314-1852delinsCACT (n.314-1855_314-1852delinsCACT) c.508_511delinsCACT (p.His170=) c.314-1028_314-1025delinsCACT (n.314-1028_314-1025delinsCACT) c.231_234delinsCACT n.781_784delinsCACT n.748_751delinsCACT | |
19 | g.11105538A= | CA2322767558 | LDLR | c.890A= (p.His297=) c.632A= (p.His211=) c.886A= c.314-1854A= (n.314-1854A=) c.509A= (p.His170=) c.314-1027A= (n.314-1027A=) c.232A= n.782A= n.749A= | |
19 | g.11105538A>C | CA404078040 | LDLR | c.890A>C (p.His297Pro) c.632A>C (p.His211Pro) c.886A>C c.314-1854A>C (n.314-1854A>C) c.509A>C (p.His170Pro) c.314-1027A>C (n.314-1027A>C) c.232A>C n.782A>C n.749A>C | gnomAD v4 |
19 | g.11105538A>G | CA404078044 | LDLR | c.890A>G (p.His297Arg) c.632A>G (p.His211Arg) c.886A>G c.314-1854A>G (n.314-1854A>G) c.509A>G (p.His170Arg) c.314-1027A>G (n.314-1027A>G) c.232A>G n.782A>G n.749A>G | |
19 | g.11105538A>T | CA10585025 | LDLR | c.890A>T (p.His297Leu) c.632A>T (p.His211Leu) c.886A>T c.314-1854A>T (n.314-1854A>T) c.509A>T (p.His170Leu) c.314-1027A>T (n.314-1027A>T) c.232A>T n.782A>T n.749A>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105538_11105540del | CA10585026 | LDLR | c.890_892del (p.His297_Ser298delinsPro) c.632_634del (p.His211_Ser212delinsPro) c.886_888del c.314-1854_314-1852del (n.314-1854_314-1852del) c.509_511del (p.His170_Ser171delinsPro) c.314-1027_314-1025del (n.314-1027_314-1025del) c.232_234del n.782_784del n.749_751del | ClinVar dbSNP |
19 | g.11105539C>A | CA404078052 | LDLR | c.891C>A (p.His297Gln) c.633C>A (p.His211Gln) c.887C>A c.314-1853C>A (n.314-1853C>A) c.510C>A (p.His170Gln) c.314-1026C>A (n.314-1026C>A) c.233C>A n.783C>A n.750C>A | |
19 | g.11105539C>G | CA404078055 | LDLR | c.891C>G (p.His297Gln) c.633C>G (p.His211Gln) c.887C>G c.314-1853C>G (n.314-1853C>G) c.510C>G (p.His170Gln) c.314-1026C>G (n.314-1026C>G) c.233C>G n.783C>G n.750C>G | |
19 | g.11105539C>T | CA505743480 | LDLR | c.891C>T (p.His297=) c.633C>T (p.His211=) c.887C>T c.314-1853C>T (n.314-1853C>T) c.510C>T (p.His170=) c.314-1026C>T (n.314-1026C>T) c.233C>T n.783C>T n.750C>T | ClinVar dbSNP |
19 | g.11105540T>A | CA404078061 | LDLR | c.892T>A (p.Ser298Thr) c.634T>A (p.Ser212Thr) c.888T>A c.314-1852T>A (n.314-1852T>A) c.511T>A (p.Ser171Thr) c.314-1025T>A (n.314-1025T>A) c.234T>A n.784T>A n.751T>A | |
19 | g.11105540T>C | CA404078064 | LDLR | c.892T>C (p.Ser298Pro) c.634T>C (p.Ser212Pro) c.888T>C c.314-1852T>C (n.314-1852T>C) c.511T>C (p.Ser171Pro) c.314-1025T>C (n.314-1025T>C) c.234T>C n.784T>C n.751T>C | gnomAD v4 |
19 | g.11105540T>G | CA404078068 | LDLR | c.892T>G (p.Ser298Ala) c.634T>G (p.Ser212Ala) c.888T>G c.314-1852T>G (n.314-1852T>G) c.511T>G (p.Ser171Ala) c.314-1025T>G (n.314-1025T>G) c.234T>G n.784T>G n.751T>G | |
19 | g.11105541C>A | CA404078072 | LDLR | c.893C>A (p.Ser298Tyr) c.635C>A (p.Ser212Tyr) c.889C>A c.314-1851C>A (n.314-1851C>A) c.512C>A (p.Ser171Tyr) c.314-1024C>A (n.314-1024C>A) c.235C>A n.785C>A n.752C>A | |
19 | g.11105541C= | CA2322767559 | LDLR | c.893C= (p.Ser298=) c.635C= (p.Ser212=) c.889C= c.314-1851C= (n.314-1851C=) c.512C= (p.Ser171=) c.314-1024C= (n.314-1024C=) c.235C= n.785C= n.752C= | |
19 | g.11105541C>G | CA404078077 | LDLR | c.893C>G (p.Ser298Cys) c.635C>G (p.Ser212Cys) c.889C>G c.314-1851C>G (n.314-1851C>G) c.512C>G (p.Ser171Cys) c.314-1024C>G (n.314-1024C>G) c.235C>G n.785C>G n.752C>G | ClinVar dbSNP |
19 | g.11105541C>T | CA404078074 | LDLR | c.893C>T (p.Ser298Phe) c.635C>T (p.Ser212Phe) c.889C>T c.314-1851C>T (n.314-1851C>T) c.512C>T (p.Ser171Phe) c.314-1024C>T (n.314-1024C>T) c.235C>T n.785C>T n.752C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105542del | CA2695238670 | LDLR | c.894del (p.Ser299AlafsTer?) c.636del (p.Ser213AlafsTer?) c.890del c.314-1850del (n.314-1850del) c.513del (p.Ser172AlafsTer?) c.314-1023del (n.314-1023del) c.236del n.786del n.753del | |
19 | g.11105541_11105549dup | CA2580096467 | LDLR | c.893_901dup (p.Trp300_Arg301insProSerTrp) c.635_643dup (p.Trp214_Arg215insProSerTrp) c.889_897dup c.314-1851_314-1843dup (n.314-1851_314-1843dup) c.512_520dup (p.Trp173_Arg174insProSerTrp) c.314-1024_314-1016dup (n.314-1024_314-1016dup) c.235_243dup n.785_793dup n.752_760dup | ClinVar |
19 | g.11105542C>A | CA044162 | LDLR | c.894C>A (p.Ser298=) c.636C>A (p.Ser212=) c.890C>A c.314-1850C>A (n.314-1850C>A) c.513C>A (p.Ser171=) c.314-1023C>A (n.314-1023C>A) c.236C>A n.786C>A n.753C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.11105542C= | CA2322767560 | LDLR | c.894C= (p.Ser298=) c.636C= (p.Ser212=) c.890C= c.314-1850C= (n.314-1850C=) c.513C= (p.Ser171=) c.314-1023C= (n.314-1023C=) c.236C= n.786C= n.753C= | |
19 | g.11105542C>G | CA505743484 | LDLR | c.894C>G (p.Ser298=) c.636C>G (p.Ser212=) c.890C>G c.314-1850C>G (n.314-1850C>G) c.513C>G (p.Ser171=) c.314-1023C>G (n.314-1023C>G) c.236C>G n.786C>G n.753C>G | |
19 | g.11105542C>T | CA305296911 | LDLR | c.894C>T (p.Ser298=) c.636C>T (p.Ser212=) c.890C>T c.314-1850C>T (n.314-1850C>T) c.513C>T (p.Ser171=) c.314-1023C>T (n.314-1023C>T) c.236C>T n.786C>T n.753C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105549_11105550insATCCACTCAGCTGGC | CA10585031 | LDLR | c.901_902insATCCACTCAGCTGGC (p.Trp300_Arg301insHisProLeuSerTrp) c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp) c.897_898insATCCACTCAGCTGGC c.314-1843_314-1842insATCCACTCAGCTGGC (n.314-1843_314-1842insATCCACTCAGCTGGC) c.520_521insATCCACTCAGCTGGC (p.Trp173_Arg174insHisProLeuSerTrp) c.314-1016_314-1015insATCCACTCAGCTGGC (n.314-1016_314-1015insATCCACTCAGCTGGC) c.243_244insATCCACTCAGCTGGC n.793_794insATCCACTCAGCTGGC n.760_761insATCCACTCAGCTGGC | ClinVar dbSNP |
19 | g.11105543A>C | CA404078095 | LDLR | c.895A>C (p.Ser299Arg) c.637A>C (p.Ser213Arg) c.891A>C c.314-1849A>C (n.314-1849A>C) c.514A>C (p.Ser172Arg) c.314-1022A>C (n.314-1022A>C) c.237A>C n.787A>C n.754A>C | |
19 | g.11105543A>G | CA404078087 | LDLR | c.895A>G (p.Ser299Gly) c.637A>G (p.Ser213Gly) c.891A>G c.314-1849A>G (n.314-1849A>G) c.514A>G (p.Ser172Gly) c.314-1022A>G (n.314-1022A>G) c.237A>G n.787A>G n.754A>G | |
19 | g.11105543A>T | CA404078090 | LDLR | c.895A>T (p.Ser299Cys) c.637A>T (p.Ser213Cys) c.891A>T c.314-1849A>T (n.314-1849A>T) c.514A>T (p.Ser172Cys) c.314-1022A>T (n.314-1022A>T) c.237A>T n.787A>T n.754A>T |