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.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.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.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.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.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 | |
19 | g.11105544G>A | CA404078099 | LDLR | c.896G>A (p.Ser299Asn) c.638G>A (p.Ser213Asn) c.892G>A c.314-1848G>A (n.314-1848G>A) c.515G>A (p.Ser172Asn) c.314-1021G>A (n.314-1021G>A) c.238G>A n.788G>A n.755G>A | |
19 | g.11105544G>C | CA10585027 | LDLR | c.896G>C (p.Ser299Thr) c.638G>C (p.Ser213Thr) c.892G>C c.314-1848G>C (n.314-1848G>C) c.515G>C (p.Ser172Thr) c.314-1021G>C (n.314-1021G>C) c.238G>C n.788G>C n.755G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105544G= | CA2322767561 | LDLR | c.896G= (p.Ser299=) c.638G= (p.Ser213=) c.892G= c.314-1848G= (n.314-1848G=) c.515G= (p.Ser172=) c.314-1021G= (n.314-1021G=) c.238G= n.788G= n.755G= | |
19 | g.11105544G>T | CA404078112 | LDLR | c.896G>T (p.Ser299Ile) c.638G>T (p.Ser213Ile) c.892G>T c.314-1848G>T (n.314-1848G>T) c.515G>T (p.Ser172Ile) c.314-1021G>T (n.314-1021G>T) c.238G>T n.788G>T n.755G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105545C>A | CA044176 | LDLR | c.897C>A (p.Ser299Arg) c.639C>A (p.Ser213Arg) c.893C>A c.314-1847C>A (n.314-1847C>A) c.516C>A (p.Ser172Arg) c.314-1020C>A (n.314-1020C>A) c.239C>A n.789C>A n.756C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105545C= | CA2322767562 | LDLR | c.897C= (p.Ser299=) c.639C= (p.Ser213=) c.893C= c.314-1847C= (n.314-1847C=) c.516C= (p.Ser172=) c.314-1020C= (n.314-1020C=) c.239C= n.789C= n.756C= | |
19 | g.11105545C>G | CA404078119 | LDLR | c.897C>G (p.Ser299Arg) c.639C>G (p.Ser213Arg) c.893C>G c.314-1847C>G (n.314-1847C>G) c.516C>G (p.Ser172Arg) c.314-1020C>G (n.314-1020C>G) c.239C>G n.789C>G n.756C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105545C>T | CA505743486 | LDLR | c.897C>T (p.Ser299=) c.639C>T (p.Ser213=) c.893C>T c.314-1847C>T (n.314-1847C>T) c.516C>T (p.Ser172=) c.314-1020C>T (n.314-1020C>T) c.239C>T n.789C>T n.756C>T | |
19 | g.11105546T>A | CA404078136 | LDLR | c.898T>A (p.Trp300Arg) c.640T>A (p.Trp214Arg) c.894T>A c.314-1846T>A (n.314-1846T>A) c.517T>A (p.Trp173Arg) c.314-1019T>A (n.314-1019T>A) c.240T>A n.790T>A n.757T>A | |
19 | g.11105546T>C | CA404078139 | LDLR | c.898T>C (p.Trp300Arg) c.640T>C (p.Trp214Arg) c.894T>C c.314-1846T>C (n.314-1846T>C) c.517T>C (p.Trp173Arg) c.314-1019T>C (n.314-1019T>C) c.240T>C n.790T>C n.757T>C | ClinVar dbSNP |
19 | g.11105546T>G | CA404078142 | LDLR | c.898T>G (p.Trp300Gly) c.640T>G (p.Trp214Gly) c.894T>G c.314-1846T>G (n.314-1846T>G) c.517T>G (p.Trp173Gly) c.314-1019T>G (n.314-1019T>G) c.240T>G n.790T>G n.757T>G | |
19 | g.11105546T= | CA2322767563 | LDLR | c.898T= (p.Trp300=) c.640T= (p.Trp214=) c.894T= c.314-1846T= (n.314-1846T=) c.517T= (p.Trp173=) c.314-1019T= (n.314-1019T=) c.240T= n.790T= n.757T= | |
19 | g.11105547G>A | CA404078144 | LDLR | c.899G>A (p.Trp300Ter) c.641G>A (p.Trp214Ter) c.895G>A c.314-1845G>A (n.314-1845G>A) c.518G>A (p.Trp173Ter) c.314-1018G>A (n.314-1018G>A) c.241G>A n.791G>A n.758G>A | ClinVar dbSNP |
19 | g.11105547G>C | CA10585028 | LDLR | c.899G>C (p.Trp300Ser) c.641G>C (p.Trp214Ser) c.895G>C c.314-1845G>C (n.314-1845G>C) c.518G>C (p.Trp173Ser) c.314-1018G>C (n.314-1018G>C) c.241G>C n.791G>C n.758G>C | ClinVar dbSNP |
19 | g.11105547G= | CA2322767564 | LDLR | c.899G= (p.Trp300=) c.641G= (p.Trp214=) c.895G= c.314-1845G= (n.314-1845G=) c.518G= (p.Trp173=) c.314-1018G= (n.314-1018G=) c.241G= n.791G= n.758G= | |
19 | g.11105547G>T | CA404078149 | LDLR | c.899G>T (p.Trp300Leu) c.641G>T (p.Trp214Leu) c.895G>T c.314-1845G>T (n.314-1845G>T) c.518G>T (p.Trp173Leu) c.314-1018G>T (n.314-1018G>T) c.241G>T n.791G>T n.758G>T | |
19 | g.11105548G>A | CA10585029 | LDLR | c.900G>A (p.Trp300Ter) c.642G>A (p.Trp214Ter) c.896G>A c.314-1844G>A (n.314-1844G>A) c.519G>A (p.Trp173Ter) c.314-1017G>A (n.314-1017G>A) c.242G>A n.792G>A n.759G>A | ClinVar dbSNP |
19 | g.11105548G>C | CA404078156 | LDLR | c.900G>C (p.Trp300Cys) c.642G>C (p.Trp214Cys) c.896G>C c.314-1844G>C (n.314-1844G>C) c.519G>C (p.Trp173Cys) c.314-1017G>C (n.314-1017G>C) c.242G>C n.792G>C n.759G>C | |
19 | g.11105548G= | CA2322767565 | LDLR | c.900G= (p.Trp300=) c.642G= (p.Trp214=) c.896G= c.314-1844G= (n.314-1844G=) c.519G= (p.Trp173=) c.314-1017G= (n.314-1017G=) c.242G= n.792G= n.759G= | |
19 | g.11105548G>T | CA404078153 | LDLR | c.900G>T (p.Trp300Cys) c.642G>T (p.Trp214Cys) c.896G>T c.314-1844G>T (n.314-1844G>T) c.519G>T (p.Trp173Cys) c.314-1017G>T (n.314-1017G>T) c.242G>T n.792G>T n.759G>T | |
19 | g.11105549C>A | CA10585030 | LDLR | c.901C>A (p.Arg301Ser) c.643C>A (p.Arg215Ser) c.897C>A c.314-1843C>A (n.314-1843C>A) c.520C>A (p.Arg174Ser) c.314-1016C>A (n.314-1016C>A) c.243C>A n.793C>A n.760C>A | ClinVar dbSNP |
19 | g.11105549C= | CA2322767566 | LDLR | c.901C= (p.Arg301=) c.643C= (p.Arg215=) c.897C= c.314-1843C= (n.314-1843C=) c.520C= (p.Arg174=) c.314-1016C= (n.314-1016C=) c.243C= n.793C= n.760C= | |
19 | g.11105549C>G | CA404078163 | LDLR | c.901C>G (p.Arg301Gly) c.643C>G (p.Arg215Gly) c.897C>G c.314-1843C>G (n.314-1843C>G) c.520C>G (p.Arg174Gly) c.314-1016C>G (n.314-1016C>G) c.243C>G n.793C>G n.760C>G | |
19 | g.11105549C>T | CA044186 | LDLR | c.901C>T (p.Arg301Cys) c.643C>T (p.Arg215Cys) c.897C>T c.314-1843C>T (n.314-1843C>T) c.520C>T (p.Arg174Cys) c.314-1016C>T (n.314-1016C>T) c.243C>T n.793C>T n.760C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105550G>A | CA044194 | LDLR | c.902G>A (p.Arg301His) c.644G>A (p.Arg215His) c.898G>A c.314-1842G>A (n.314-1842G>A) c.521G>A (p.Arg174His) c.314-1015G>A (n.314-1015G>A) c.244G>A n.794G>A n.761G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105550G>C | CA404078173 | LDLR | c.902G>C (p.Arg301Pro) c.644G>C (p.Arg215Pro) c.898G>C c.314-1842G>C (n.314-1842G>C) c.521G>C (p.Arg174Pro) c.314-1015G>C (n.314-1015G>C) c.244G>C n.794G>C n.761G>C | |
19 | g.11105550G= | CA2322767567 | LDLR | c.902G= (p.Arg301=) c.644G= (p.Arg215=) c.898G= c.314-1842G= (n.314-1842G=) c.521G= (p.Arg174=) c.314-1015G= (n.314-1015G=) c.244G= n.794G= n.761G= | |
19 | g.11105550G>T | CA404078176 | LDLR | c.902G>T (p.Arg301Leu) c.644G>T (p.Arg215Leu) c.898G>T c.314-1842G>T (n.314-1842G>T) c.521G>T (p.Arg174Leu) c.314-1015G>T (n.314-1015G>T) c.244G>T n.794G>T n.761G>T | ClinVar dbSNP |
19 | g.11105550_11105552delinsGCT | CA2322767568 | LDLR | c.902_904delinsGCT (p.Arg301=) c.644_646delinsGCT (p.Arg215=) c.898_900delinsGCT c.314-1842_314-1840delinsGCT (n.314-1842_314-1840delinsGCT) c.521_523delinsGCT (p.Arg174=) c.314-1015_314-1013delinsGCT (n.314-1015_314-1013delinsGCT) c.244_246delinsGCT n.794_796delinsGCT n.761_763delinsGCT | |
19 | g.11105551C>A | CA505743489 | LDLR | c.903C>A (p.Arg301=) c.645C>A (p.Arg215=) c.899C>A c.314-1841C>A (n.314-1841C>A) c.522C>A (p.Arg174=) c.314-1014C>A (n.314-1014C>A) c.245C>A n.795C>A n.762C>A | |
19 | g.11105551C>G | CA505743490 | LDLR | c.903C>G (p.Arg301=) c.645C>G (p.Arg215=) c.899C>G c.314-1841C>G (n.314-1841C>G) c.522C>G (p.Arg174=) c.314-1014C>G (n.314-1014C>G) c.245C>G n.795C>G n.762C>G | gnomAD v4 |
19 | g.11105551C>T | CA505743488 | LDLR | c.903C>T (p.Arg301=) c.645C>T (p.Arg215=) c.899C>T c.314-1841C>T (n.314-1841C>T) c.522C>T (p.Arg174=) c.314-1014C>T (n.314-1014C>T) c.245C>T n.795C>T n.762C>T | ClinVar |
19 | g.11105551_11105552del | CA10585032 | LDLR | c.903_904del (p.Cys302Ter) c.645_646del (p.Cys216Ter) c.899_900del c.314-1841_314-1840del (n.314-1841_314-1840del) c.522_523del (p.Cys175Ter) c.314-1014_314-1013del (n.314-1014_314-1013del) c.245_246del n.795_796del n.762_763del | ClinVar dbSNP |
19 | g.11105551_11105552delinsCT | CA2322767569 | LDLR | c.903_904delinsCT (p.Arg301=) c.645_646delinsCT (p.Arg215=) c.899_900delinsCT c.314-1841_314-1840delinsCT (n.314-1841_314-1840delinsCT) c.522_523delinsCT (p.Arg174=) c.314-1014_314-1013delinsCT (n.314-1014_314-1013delinsCT) c.245_246delinsCT n.795_796delinsCT n.762_763delinsCT | |
19 | g.11105551_11105553delinsCTG | CA2322767570 | LDLR | c.903_905delinsCTG (p.Arg301=) c.645_647delinsCTG (p.Arg215=) c.899_901delinsCTG c.314-1841_314-1839delinsCTG (n.314-1841_314-1839delinsCTG) c.522_524delinsCTG (p.Arg174=) c.314-1014_314-1012delinsCTG (n.314-1014_314-1012delinsCTG) c.245_247delinsCTG n.795_797delinsCTG n.762_764delinsCTG | |
19 | g.11105554_11105571del | CA2580096468 | LDLR | c.906_923del (p.Asp303_Cys308del) c.648_665del (p.Asp217_Cys222del) c.902_919del c.314-1838_314-1821del (n.314-1838_314-1821del) c.525_542del (p.Asp176_Cys181del) c.314-1011_314-994del (n.314-1011_314-994del) c.248_265del n.798_815del n.765_782del | ClinVar |
19 | g.11105552del | CA10585034 | LDLR | c.904del (p.Cys302ValfsTer?) c.646del (p.Cys216ValfsTer?) c.900del c.314-1840del (n.314-1840del) c.523del (p.Cys175ValfsTer?) c.314-1013del (n.314-1013del) c.246del n.796del n.763del | ClinVar dbSNP |
19 | g.11105552T>A | CA404078189 | LDLR | c.904T>A (p.Cys302Ser) c.646T>A (p.Cys216Ser) c.900T>A c.314-1840T>A (n.314-1840T>A) c.523T>A (p.Cys175Ser) c.314-1013T>A (n.314-1013T>A) c.246T>A n.796T>A n.763T>A | |
19 | g.11105552T>C | CA10585033 | LDLR | c.904T>C (p.Cys302Arg) c.646T>C (p.Cys216Arg) c.900T>C c.314-1840T>C (n.314-1840T>C) c.523T>C (p.Cys175Arg) c.314-1013T>C (n.314-1013T>C) c.246T>C n.796T>C n.763T>C | ClinVar dbSNP |
19 | g.11105552T>G | CA404078187 | LDLR | c.904T>G (p.Cys302Gly) c.646T>G (p.Cys216Gly) c.900T>G c.314-1840T>G (n.314-1840T>G) c.523T>G (p.Cys175Gly) c.314-1013T>G (n.314-1013T>G) c.246T>G n.796T>G n.763T>G | |
19 | g.11105552T= | CA2322767571 | LDLR | c.904T= (p.Cys302=) c.646T= (p.Cys216=) c.900T= c.314-1840T= (n.314-1840T=) c.523T= (p.Cys175=) c.314-1013T= (n.314-1013T=) c.246T= n.796T= n.763T= | |
19 | g.11105554_11105555del | CA10585037 | LDLR | c.906_907del (p.Cys302Ter) c.648_649del (p.Cys216Ter) c.902_903del c.314-1838_314-1837del (n.314-1838_314-1837del) c.525_526del (p.Cys175Ter) c.314-1011_314-1010del (n.314-1011_314-1010del) c.248_249del n.798_799del n.765_766del | ClinVar dbSNP |
19 | g.11105552_11105561delinsTGTGATGGTG | CA2322767572 | LDLR | c.904_913delinsTGTGATGGTG (p.Cys302=) c.646_655delinsTGTGATGGTG (p.Cys216=) c.900_909delinsTGTGATGGTG c.314-1840_314-1831delinsTGTGATGGTG (n.314-1840_314-1831delinsTGTGATGGTG) c.523_532delinsTGTGATGGTG (p.Cys175=) c.314-1013_314-1004delinsTGTGATGGTG (n.314-1013_314-1004delinsTGTGATGGTG) c.246_255delinsTGTGATGGTG n.796_805delinsTGTGATGGTG n.763_772delinsTGTGATGGTG | |
19 | g.11105553G>A | CA10585035 | LDLR | c.905G>A (p.Cys302Tyr) c.647G>A (p.Cys216Tyr) c.901G>A c.314-1839G>A (n.314-1839G>A) c.524G>A (p.Cys175Tyr) c.314-1012G>A (n.314-1012G>A) c.247G>A n.797G>A n.764G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105553G>C | CA404078197 | LDLR | c.905G>C (p.Cys302Ser) c.647G>C (p.Cys216Ser) c.901G>C c.314-1839G>C (n.314-1839G>C) c.524G>C (p.Cys175Ser) c.314-1012G>C (n.314-1012G>C) c.247G>C n.797G>C n.764G>C | |
19 | g.11105553G= | CA2322767573 | LDLR | c.905G= (p.Cys302=) c.647G= (p.Cys216=) c.901G= c.314-1839G= (n.314-1839G=) c.524G= (p.Cys175=) c.314-1012G= (n.314-1012G=) c.247G= n.797G= n.764G= | |
19 | g.11105553G>T | CA10585036 | LDLR | c.905G>T (p.Cys302Phe) c.647G>T (p.Cys216Phe) c.901G>T c.314-1839G>T (n.314-1839G>T) c.524G>T (p.Cys175Phe) c.314-1012G>T (n.314-1012G>T) c.247G>T n.797G>T n.764G>T | ClinVar dbSNP |
19 | g.11105556_11105561dup | CA10585040 | LDLR | c.908_913dup (p.Gly304_Gly305insAspGly) c.650_655dup (p.Gly218_Gly219insAspGly) c.904_909dup c.314-1836_314-1831dup (n.314-1836_314-1831dup) c.527_532dup (p.Gly177_Gly178insAspGly) c.314-1009_314-1004dup (n.314-1009_314-1004dup) c.250_255dup n.800_805dup n.767_772dup | dbSNP |
19 | g.[11105556_11105561dup;11105563_11105567del] | CA645373227 | LDLR | c.[908_913dup;915_919del] (p.[Gly304_Gly305insAspGly;Gly305=]) c.[650_655dup;657_661del] (p.[Gly218_Gly219insAspGly;Gly219=]) c.[904_909dup;911_915del] c.[314-1836_314-1831dup;314-1829_314-1825del] (n.[314-1836_314-1831dup;314-1829_314-1825del]) c.[527_532dup;534_538del] (p.[Gly177_Gly178insAspGly;Gly178=]) c.[314-1009_314-1004dup;314-1002_314-998del] (n.[314-1009_314-1004dup;314-1002_314-998del]) c.[250_255dup;257_261del] n.[800_805dup;807_811del] n.[767_772dup;774_778del] | |
19 | g.11105554_11105562del | CA10585038 | LDLR | c.906_914del (p.Asp303_Gly305del) c.648_656del (p.Asp217_Gly219del) c.902_910del c.314-1838_314-1830del (n.314-1838_314-1830del) c.525_533del (p.Asp176_Gly178del) c.314-1011_314-1003del (n.314-1011_314-1003del) c.248_256del n.798_806del n.765_773del | ClinVar dbSNP |
19 | g.11105554T>A | CA404078210 | LDLR | c.906T>A (p.Cys302Ter) c.648T>A (p.Cys216Ter) c.902T>A c.314-1838T>A (n.314-1838T>A) c.525T>A (p.Cys175Ter) c.314-1011T>A (n.314-1011T>A) c.248T>A n.798T>A n.765T>A | |
19 | g.11105554T>C | CA505743494 | LDLR | c.906T>C (p.Cys302=) c.648T>C (p.Cys216=) c.902T>C c.314-1838T>C (n.314-1838T>C) c.525T>C (p.Cys175=) c.314-1011T>C (n.314-1011T>C) c.248T>C n.798T>C n.765T>C | |
19 | g.11105554T>G | CA404078213 | LDLR | c.906T>G (p.Cys302Trp) c.648T>G (p.Cys216Trp) c.902T>G c.314-1838T>G (n.314-1838T>G) c.525T>G (p.Cys175Trp) c.314-1011T>G (n.314-1011T>G) c.248T>G n.798T>G n.765T>G | |
19 | g.11105554dup | CA10576285 | LDLR | c.906dup (p.Asp303Ter) c.648dup (p.Asp217Ter) c.902dup c.314-1838dup (n.314-1838dup) c.525dup (p.Asp176Ter) c.314-1011dup (n.314-1011dup) c.248dup n.798dup n.765dup | ClinVar dbSNP gnomAD v4 |
19 | g.11105556_11105558del | CA2573050578 | LDLR | c.908_910del (p.Asp303del) c.650_652del (p.Asp217del) c.904_906del c.314-1836_314-1834del (n.314-1836_314-1834del) c.527_529del (p.Asp176del) c.314-1009_314-1007del (n.314-1009_314-1007del) c.250_252del n.800_802del n.767_769del | |
19 | g.11105555G>A | CA404078217 | LDLR | c.907G>A (p.Asp303Asn) c.649G>A (p.Asp217Asn) c.903G>A c.314-1837G>A (n.314-1837G>A) c.526G>A (p.Asp176Asn) c.314-1010G>A (n.314-1010G>A) c.249G>A n.799G>A n.766G>A | gnomAD v4 |
19 | g.11105555G>C | CA404078219 | LDLR | c.907G>C (p.Asp303His) c.649G>C (p.Asp217His) c.903G>C c.314-1837G>C (n.314-1837G>C) c.526G>C (p.Asp176His) c.314-1010G>C (n.314-1010G>C) c.249G>C n.799G>C n.766G>C | |
19 | g.11105555G= | CA2322767574 | LDLR | c.907G= (p.Asp303=) c.649G= (p.Asp217=) c.903G= c.314-1837G= (n.314-1837G=) c.526G= (p.Asp176=) c.314-1010G= (n.314-1010G=) c.249G= n.799G= n.766G= | |
19 | g.11105555G>T | CA404078222 | LDLR | c.907G>T (p.Asp303Tyr) c.649G>T (p.Asp217Tyr) c.903G>T c.314-1837G>T (n.314-1837G>T) c.526G>T (p.Asp176Tyr) c.314-1010G>T (n.314-1010G>T) c.249G>T n.799G>T n.766G>T | |
19 | g.11105557_11105568del | CA2695223206 | LDLR | c.909_920del (p.Gly304_Asp307del) c.651_662del (p.Gly218_Asp221del) c.905_916del c.314-1835_314-1824del (n.314-1835_314-1824del) c.528_539del (p.Gly177_Asp180del) c.314-1008_314-997del (n.314-1008_314-997del) c.251_262del n.801_812del n.768_779del | |
19 | g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | CA2322767575 | LDLR | c.907_944delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp303=) c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp217=) c.903_940delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp176=) c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.249_286delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.799_836delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | |
19 | g.11105555_11105556insT | CA10585039 | LDLR | c.907_908insT (p.Asp303ValfsTer11) c.649_650insT (p.Asp217ValfsTer11) c.903_904insT c.314-1837_314-1836insT (n.314-1837_314-1836insT) c.526_527insT (p.Asp176ValfsTer11) c.314-1010_314-1009insT (n.314-1010_314-1009insT) c.249_250insT n.799_800insT n.766_767insT | ClinVar dbSNP |
19 | g.11105556A= | CA2322767577 | LDLR | c.908A= (p.Asp303=) c.650A= (p.Asp217=) c.904A= c.314-1836A= (n.314-1836A=) c.527A= (p.Asp176=) c.314-1009A= (n.314-1009A=) c.250A= n.800A= n.767A= | |
19 | g.11105556A>C | CA404078232 | LDLR | c.908A>C (p.Asp303Ala) c.650A>C (p.Asp217Ala) c.904A>C c.314-1836A>C (n.314-1836A>C) c.527A>C (p.Asp176Ala) c.314-1009A>C (n.314-1009A>C) c.250A>C n.800A>C n.767A>C | |
19 | g.11105556A>G | CA404078230 | LDLR | c.908A>G (p.Asp303Gly) c.650A>G (p.Asp217Gly) c.904A>G c.314-1836A>G (n.314-1836A>G) c.527A>G (p.Asp176Gly) c.314-1009A>G (n.314-1009A>G) c.250A>G n.800A>G n.767A>G | ClinVar dbSNP |
19 | g.11105556A>T | CA404078226 | LDLR | c.908A>T (p.Asp303Val) c.650A>T (p.Asp217Val) c.904A>T c.314-1836A>T (n.314-1836A>T) c.527A>T (p.Asp176Val) c.314-1009A>T (n.314-1009A>T) c.250A>T n.800A>T n.767A>T | ClinVar dbSNP |
19 | g.11105556_11105559delinsATGG | CA2322767576 | LDLR | c.908_911delinsATGG (p.Asp303=) c.650_653delinsATGG (p.Asp217=) c.904_907delinsATGG c.314-1836_314-1833delinsATGG (n.314-1836_314-1833delinsATGG) c.527_530delinsATGG (p.Asp176=) c.314-1009_314-1006delinsATGG (n.314-1009_314-1006delinsATGG) c.250_253delinsATGG n.800_803delinsATGG n.767_770delinsATGG | |
19 | g.11105557_11105593del | CA10585041 | LDLR | c.909_945del (p.Asp303GlufsTer?) c.651_687del (p.Asp217GlufsTer?) c.905_941del c.314-1835_314-1799del (n.314-1835_314-1799del) c.528_564del (p.Asp176GlufsTer?) c.314-1008_314-972del (n.314-1008_314-972del) c.251_287del n.801_837del n.768_804del | ClinVar dbSNP |
19 | g.11105557T>A | CA404078242 | LDLR | c.909T>A (p.Asp303Glu) c.651T>A (p.Asp217Glu) c.905T>A c.314-1835T>A (n.314-1835T>A) c.528T>A (p.Asp176Glu) c.314-1008T>A (n.314-1008T>A) c.251T>A n.801T>A n.768T>A | |
19 | g.11105557T>C | CA044218 | LDLR | c.909T>C (p.Asp303=) c.651T>C (p.Asp217=) c.905T>C c.314-1835T>C (n.314-1835T>C) c.528T>C (p.Asp176=) c.314-1008T>C (n.314-1008T>C) c.251T>C n.801T>C n.768T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105557T>G | CA404078250 | LDLR | c.909T>G (p.Asp303Glu) c.651T>G (p.Asp217Glu) c.905T>G c.314-1835T>G (n.314-1835T>G) c.528T>G (p.Asp176Glu) c.314-1008T>G (n.314-1008T>G) c.251T>G n.801T>G n.768T>G | |
19 | g.11105557T= | CA2322767579 | LDLR | c.909T= (p.Asp303=) c.651T= (p.Asp217=) c.905T= c.314-1835T= (n.314-1835T=) c.528T= (p.Asp176=) c.314-1008T= (n.314-1008T=) c.251T= n.801T= n.768T= | |
19 | g.11105557_11105558delinsTG | CA2322767578 | LDLR | c.909_910delinsTG (p.Asp303=) c.651_652delinsTG (p.Asp217=) c.905_906delinsTG c.314-1835_314-1834delinsTG (n.314-1835_314-1834delinsTG) c.528_529delinsTG (p.Asp176=) c.314-1008_314-1007delinsTG (n.314-1008_314-1007delinsTG) c.251_252delinsTG n.801_802delinsTG n.768_769delinsTG | |
19 | g.11105560_11105562dup | CA2582473158 | LDLR | c.912_914dup (p.Gly305_Pro306insGly) c.654_656dup (p.Gly219_Pro220insGly) c.908_910dup c.314-1832_314-1830dup (n.314-1832_314-1830dup) c.531_533dup (p.Gly178_Pro179insGly) c.314-1005_314-1003dup (n.314-1005_314-1003dup) c.254_256dup n.804_806dup n.771_773dup | gnomAD v4 |
19 | g.11105560_11105562del | CA023734 | LDLR | c.912_914del (p.Gly305del) c.654_656del (p.Gly219del) c.908_910del c.314-1832_314-1830del (n.314-1832_314-1830del) c.531_533del (p.Gly178del) c.314-1005_314-1003del (n.314-1005_314-1003del) c.254_256del n.804_806del n.771_773del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105558G>A | CA404078257 | LDLR | c.910G>A (p.Gly304Ser) c.652G>A (p.Gly218Ser) c.906G>A c.314-1834G>A (n.314-1834G>A) c.529G>A (p.Gly177Ser) c.314-1007G>A (n.314-1007G>A) c.252G>A n.802G>A n.769G>A | |
19 | g.11105558G>C | CA404078259 | LDLR | c.910G>C (p.Gly304Arg) c.652G>C (p.Gly218Arg) c.906G>C c.314-1834G>C (n.314-1834G>C) c.529G>C (p.Gly177Arg) c.314-1007G>C (n.314-1007G>C) c.252G>C n.802G>C n.769G>C | |
19 | g.11105558G>T | CA404078263 | LDLR | c.910G>T (p.Gly304Cys) c.652G>T (p.Gly218Cys) c.906G>T c.314-1834G>T (n.314-1834G>T) c.529G>T (p.Gly177Cys) c.314-1007G>T (n.314-1007G>T) c.252G>T n.802G>T n.769G>T | |
19 | g.11105559del | CA023735 | LDLR | c.911del (p.Gly304ValfsTer?) c.653del (p.Gly218ValfsTer?) c.907del c.314-1833del (n.314-1833del) c.530del (p.Gly177ValfsTer?) c.314-1006del (n.314-1006del) c.253del n.803del n.770del | ClinVar dbSNP gnomAD v4 |
19 | g.11105559G>A | CA404078270 | LDLR | c.911G>A (p.Gly304Asp) c.653G>A (p.Gly218Asp) c.907G>A c.314-1833G>A (n.314-1833G>A) c.530G>A (p.Gly177Asp) c.314-1006G>A (n.314-1006G>A) c.253G>A n.803G>A n.770G>A | |
19 | g.11105559G>C | CA404078271 | LDLR | c.911G>C (p.Gly304Ala) c.653G>C (p.Gly218Ala) c.907G>C c.314-1833G>C (n.314-1833G>C) c.530G>C (p.Gly177Ala) c.314-1006G>C (n.314-1006G>C) c.253G>C n.803G>C n.770G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105559G= | CA2322767580 | LDLR | c.911G= (p.Gly304=) c.653G= (p.Gly218=) c.907G= c.314-1833G= (n.314-1833G=) c.530G= (p.Gly177=) c.314-1006G= (n.314-1006G=) c.253G= n.803G= n.770G= | |
19 | g.11105559G>T | CA404078274 | LDLR | c.911G>T (p.Gly304Val) c.653G>T (p.Gly218Val) c.907G>T c.314-1833G>T (n.314-1833G>T) c.530G>T (p.Gly177Val) c.314-1006G>T (n.314-1006G>T) c.253G>T n.803G>T n.770G>T | |
19 | g.11105560_11105561del | CA2695223207 | LDLR | c.912_913del (p.Gly305ProfsTer8) c.654_655del (p.Gly219ProfsTer8) c.908_909del c.314-1832_314-1831del (n.314-1832_314-1831del) c.531_532del (p.Gly178ProfsTer8) c.314-1005_314-1004del (n.314-1005_314-1004del) c.254_255del n.804_805del n.771_772del | |
19 | g.11105560_11105588del | CA2695223208 | LDLR | c.912_940del (p.Pro306LysfsTer10) c.654_682del (p.Pro220LysfsTer10) c.908_936del c.314-1832_314-1804del (n.314-1832_314-1804del) c.531_559del (p.Pro179LysfsTer10) c.314-1005_314-977del (n.314-1005_314-977del) c.254_282del n.804_832del n.771_799del | |
19 | g.11105560T>A | CA505743501 | LDLR | c.912T>A (p.Gly304=) c.654T>A (p.Gly218=) c.908T>A c.314-1832T>A (n.314-1832T>A) c.531T>A (p.Gly177=) c.314-1005T>A (n.314-1005T>A) c.254T>A n.804T>A n.771T>A | |
19 | g.11105560T>C | CA505743502 | LDLR | c.912T>C (p.Gly304=) c.654T>C (p.Gly218=) c.908T>C c.314-1832T>C (n.314-1832T>C) c.531T>C (p.Gly177=) c.314-1005T>C (n.314-1005T>C) c.254T>C n.804T>C n.771T>C | gnomAD v4 |
19 | g.11105560T>G | CA505743503 | LDLR | c.912T>G (p.Gly304=) c.654T>G (p.Gly218=) c.908T>G c.314-1832T>G (n.314-1832T>G) c.531T>G (p.Gly177=) c.314-1005T>G (n.314-1005T>G) c.254T>G n.804T>G n.771T>G | |
19 | g.11105560_11105563delinsTGGC | CA2322767581 | LDLR | c.912_915delinsTGGC (p.Gly304=) c.654_657delinsTGGC (p.Gly218=) c.908_911delinsTGGC c.314-1832_314-1829delinsTGGC (n.314-1832_314-1829delinsTGGC) c.531_534delinsTGGC (p.Gly177=) c.314-1005_314-1002delinsTGGC (n.314-1005_314-1002delinsTGGC) c.254_257delinsTGGC n.804_807delinsTGGC n.771_774delinsTGGC | |
19 | g.11105560_11105566delinsTGGCCCC | CA2322767582 | LDLR | c.912_918delinsTGGCCCC (p.Gly304=) c.654_660delinsTGGCCCC (p.Gly218=) c.908_914delinsTGGCCCC c.314-1832_314-1826delinsTGGCCCC (n.314-1832_314-1826delinsTGGCCCC) c.531_537delinsTGGCCCC (p.Gly177=) c.314-1005_314-999delinsTGGCCCC (n.314-1005_314-999delinsTGGCCCC) c.254_260delinsTGGCCCC n.804_810delinsTGGCCCC n.771_777delinsTGGCCCC | |
19 | g.11105561G>A | CA404078290 | LDLR | c.913G>A (p.Gly305Ser) c.655G>A (p.Gly219Ser) c.909G>A c.314-1831G>A (n.314-1831G>A) c.532G>A (p.Gly178Ser) c.314-1004G>A (n.314-1004G>A) c.255G>A n.805G>A n.772G>A | |
19 | g.11105561G>C | CA404078285 | LDLR | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) c.909G>C c.314-1831G>C (n.314-1831G>C) c.532G>C (p.Gly178Arg) c.314-1004G>C (n.314-1004G>C) c.255G>C n.805G>C n.772G>C | |
19 | g.11105561G>T | CA404078288 | LDLR | c.913G>T (p.Gly305Cys) c.655G>T (p.Gly219Cys) c.909G>T c.314-1831G>T (n.314-1831G>T) c.532G>T (p.Gly178Cys) c.314-1004G>T (n.314-1004G>T) c.255G>T n.805G>T n.772G>T | gnomAD v4 |
19 | g.11105561_11105563del | CA10585042 | LDLR | c.913_915del (p.Gly305del) c.655_657del (p.Gly219del) c.909_911del c.314-1831_314-1829del (n.314-1831_314-1829del) c.532_534del (p.Gly178del) c.314-1004_314-1002del (n.314-1004_314-1002del) c.255_257del n.805_807del n.772_774del | ClinVar dbSNP |
19 | g.11105561_11105566delinsGGCCCC | CA2322767583 | LDLR | c.913_918delinsGGCCCC (p.Gly305=) c.655_660delinsGGCCCC (p.Gly219=) c.909_914delinsGGCCCC c.314-1831_314-1826delinsGGCCCC (n.314-1831_314-1826delinsGGCCCC) c.532_537delinsGGCCCC (p.Gly178=) c.314-1004_314-999delinsGGCCCC (n.314-1004_314-999delinsGGCCCC) c.255_260delinsGGCCCC n.805_810delinsGGCCCC n.772_777delinsGGCCCC | |
19 | g.11105562_11105567del | CA10585043 | LDLR | c.914_919del (p.Gly305_Pro306del) c.656_661del (p.Gly219_Pro220del) c.910_915del c.314-1830_314-1825del (n.314-1830_314-1825del) c.533_538del (p.Gly178_Pro179del) c.314-1003_314-998del (n.314-1003_314-998del) c.256_261del n.806_811del n.773_778del | ClinVar dbSNP gnomAD v4 |
19 | g.11105562G>A | CA023738 | LDLR | c.914G>A (p.Gly305Asp) c.656G>A (p.Gly219Asp) c.910G>A c.314-1830G>A (n.314-1830G>A) c.533G>A (p.Gly178Asp) c.314-1003G>A (n.314-1003G>A) c.256G>A n.806G>A n.773G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105562G>C | CA404078295 | LDLR | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) c.910G>C c.314-1830G>C (n.314-1830G>C) c.533G>C (p.Gly178Ala) c.314-1003G>C (n.314-1003G>C) c.256G>C n.806G>C n.773G>C | |
19 | g.11105562G= | CA2322767586 | LDLR | c.914G= (p.Gly305=) c.656G= (p.Gly219=) c.910G= c.314-1830G= (n.314-1830G=) c.533G= (p.Gly178=) c.314-1003G= (n.314-1003G=) c.256G= n.806G= n.773G= | |
19 | g.11105562G>T | CA404078297 | LDLR | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) c.910G>T c.314-1830G>T (n.314-1830G>T) c.533G>T (p.Gly178Val) c.314-1003G>T (n.314-1003G>T) c.256G>T n.806G>T n.773G>T | |
19 | g.11105562_11105563delinsGC | CA2322767585 | LDLR | c.914_915delinsGC (p.Gly305=) c.656_657delinsGC (p.Gly219=) c.910_911delinsGC c.314-1830_314-1829delinsGC (n.314-1830_314-1829delinsGC) c.533_534delinsGC (p.Gly178=) c.314-1003_314-1002delinsGC (n.314-1003_314-1002delinsGC) c.256_257delinsGC n.806_807delinsGC n.773_774delinsGC | |
19 | g.11105563_11105567dup | CA10585045 | LDLR | c.915_919dup (p.Asp307AlafsTer?) c.657_661dup (p.Asp221AlafsTer?) c.911_915dup c.314-1829_314-1825dup (n.314-1829_314-1825dup) c.534_538dup (p.Asp180AlafsTer?) c.314-1002_314-998dup (n.314-1002_314-998dup) c.257_261dup n.807_811dup n.774_778dup | ClinVar dbSNP |
19 | g.11105563_11105567del | CA10585044 | LDLR | c.915_919del (p.Pro306LeufsTer6) c.657_661del (p.Pro220LeufsTer6) c.911_915del c.314-1829_314-1825del (n.314-1829_314-1825del) c.534_538del (p.Pro179LeufsTer6) c.314-1002_314-998del (n.314-1002_314-998del) c.257_261del n.807_811del n.774_778del | dbSNP |
19 | g.11105562_11105568delinsGCCCCGA | CA2322767584 | LDLR | c.914_920delinsGCCCCGA (p.Gly305=) c.656_662delinsGCCCCGA (p.Gly219=) c.910_916delinsGCCCCGA c.314-1830_314-1824delinsGCCCCGA (n.314-1830_314-1824delinsGCCCCGA) c.533_539delinsGCCCCGA (p.Gly178=) c.314-1003_314-997delinsGCCCCGA (n.314-1003_314-997delinsGCCCCGA) c.256_262delinsGCCCCGA n.806_812delinsGCCCCGA n.773_779delinsGCCCCGA | |
19 | g.11105563C>A | CA505743505 | LDLR | c.915C>A (p.Gly305=) c.657C>A (p.Gly219=) c.911C>A c.314-1829C>A (n.314-1829C>A) c.534C>A (p.Gly178=) c.314-1002C>A (n.314-1002C>A) c.257C>A n.807C>A n.774C>A | gnomAD v4 |
19 | g.11105563C= | CA2322767587 | LDLR | c.915C= (p.Gly305=) c.657C= (p.Gly219=) c.911C= c.314-1829C= (n.314-1829C=) c.534C= (p.Gly178=) c.314-1002C= (n.314-1002C=) c.257C= n.807C= n.774C= | |
19 | g.11105563C>G | CA305296930 | LDLR | c.915C>G (p.Gly305=) c.657C>G (p.Gly219=) c.911C>G c.314-1829C>G (n.314-1829C>G) c.534C>G (p.Gly178=) c.314-1002C>G (n.314-1002C>G) c.257C>G n.807C>G n.774C>G | ClinVar dbSNP |
19 | g.11105563C>T | CA505743504 | LDLR | c.915C>T (p.Gly305=) c.657C>T (p.Gly219=) c.911C>T c.314-1829C>T (n.314-1829C>T) c.534C>T (p.Gly178=) c.314-1002C>T (n.314-1002C>T) c.257C>T n.807C>T n.774C>T | ClinVar dbSNP |
19 | g.11105563_11105566delinsATGGT | CA2573050579 | LDLR | c.915_918delinsATGGT (p.Pro306TrpfsTer2) c.657_660delinsATGGT (p.Pro220TrpfsTer2) c.911_914delinsATGGT c.314-1829_314-1826delinsATGGT (n.314-1829_314-1826delinsATGGT) c.534_537delinsATGGT (p.Pro179TrpfsTer2) c.314-1002_314-999delinsATGGT (n.314-1002_314-999delinsATGGT) c.257_260delinsATGGT n.807_810delinsATGGT n.774_777delinsATGGT | |
19 | g.11105566dup | CA2840305519 | LDLR | c.918dup (p.Asp307ArgfsTer7) c.660dup (p.Asp221ArgfsTer7) c.914dup c.314-1826dup (n.314-1826dup) c.537dup (p.Asp180ArgfsTer7) c.314-999dup (n.314-999dup) c.260dup n.810dup n.777dup | |
19 | g.11105566del | CA10576286 | LDLR | c.918del (p.Asp307ThrfsTer?) c.660del (p.Asp221ThrfsTer?) c.914del c.314-1826del (n.314-1826del) c.537del (p.Asp180ThrfsTer?) c.314-999del (n.314-999del) c.260del n.810del n.777del | ClinVar dbSNP |
19 | g.11105564_11105569del | CA645509262 | LDLR | c.916_921del (p.Pro306_Asp307del) c.658_663del (p.Pro220_Asp221del) c.912_917del c.314-1828_314-1823del (n.314-1828_314-1823del) c.535_540del (p.Pro179_Asp180del) c.314-1001_314-996del (n.314-1001_314-996del) c.258_263del n.808_813del n.775_780del | ClinVar dbSNP |
19 | g.11105564C>A | CA404078311 | LDLR | c.916C>A (p.Pro306Thr) c.658C>A (p.Pro220Thr) c.912C>A c.314-1828C>A (n.314-1828C>A) c.535C>A (p.Pro179Thr) c.314-1001C>A (n.314-1001C>A) c.258C>A n.808C>A n.775C>A | |
19 | g.11105564C= | CA2322767588 | LDLR | c.916C= (p.Pro306=) c.658C= (p.Pro220=) c.912C= c.314-1828C= (n.314-1828C=) c.535C= (p.Pro179=) c.314-1001C= (n.314-1001C=) c.258C= n.808C= n.775C= | |
19 | g.11105564C>G | CA404078308 | LDLR | c.916C>G (p.Pro306Ala) c.658C>G (p.Pro220Ala) c.912C>G c.314-1828C>G (n.314-1828C>G) c.535C>G (p.Pro179Ala) c.314-1001C>G (n.314-1001C>G) c.258C>G n.808C>G n.775C>G | |
19 | g.11105564C>T | CA404078305 | LDLR | c.916C>T (p.Pro306Ser) c.658C>T (p.Pro220Ser) c.912C>T c.314-1828C>T (n.314-1828C>T) c.535C>T (p.Pro179Ser) c.314-1001C>T (n.314-1001C>T) c.258C>T n.808C>T n.775C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105564_11105565delinsTGTGATGG | CA2580096472 | LDLR | c.916_917delinsTGTGATGG (p.Pro306delinsCysAspGly) c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly) c.912_913delinsTGTGATGG c.314-1828_314-1827delinsTGTGATGG (n.314-1828_314-1827delinsTGTGATGG) c.535_536delinsTGTGATGG (p.Pro179delinsCysAspGly) c.314-1001_314-1000delinsTGTGATGG (n.314-1001_314-1000delinsTGTGATGG) c.258_259delinsTGTGATGG n.808_809delinsTGTGATGG n.775_776delinsTGTGATGG | ClinVar |
19 | g.11105565C>A | CA404078315 | LDLR | c.917C>A (p.Pro306His) c.659C>A (p.Pro220His) c.913C>A c.314-1827C>A (n.314-1827C>A) c.536C>A (p.Pro179His) c.314-1000C>A (n.314-1000C>A) c.259C>A n.809C>A n.776C>A | |
19 | g.11105565C= | CA2322767590 | LDLR | c.917C= (p.Pro306=) c.659C= (p.Pro220=) c.913C= c.314-1827C= (n.314-1827C=) c.536C= (p.Pro179=) c.314-1000C= (n.314-1000C=) c.259C= n.809C= n.776C= | |
19 | g.11105565C>G | CA404078318 | LDLR | c.917C>G (p.Pro306Arg) c.659C>G (p.Pro220Arg) c.913C>G c.314-1827C>G (n.314-1827C>G) c.536C>G (p.Pro179Arg) c.314-1000C>G (n.314-1000C>G) c.259C>G n.809C>G n.776C>G | gnomAD v4 |
19 | g.11105565C>T | CA404078321 | LDLR | c.917C>T (p.Pro306Leu) c.659C>T (p.Pro220Leu) c.913C>T c.314-1827C>T (n.314-1827C>T) c.536C>T (p.Pro179Leu) c.314-1000C>T (n.314-1000C>T) c.259C>T n.809C>T n.776C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105566_11105572dup | CA16602304 | LDLR | c.918_924dup (p.Lys309ArgfsTer7) c.660_666dup (p.Lys223ArgfsTer7) c.914_920dup c.314-1826_314-1820dup (n.314-1826_314-1820dup) c.537_543dup (p.Lys182ArgfsTer7) c.314-999_314-993dup (n.314-999_314-993dup) c.260_266dup n.810_816dup n.777_783dup | ClinVar dbSNP |
19 | g.11105565_11105582delinsCCGACTGCAAGGACAAAT | CA2322767589 | LDLR | c.917_934delinsCCGACTGCAAGGACAAAT (p.Pro306=) c.659_676delinsCCGACTGCAAGGACAAAT (p.Pro220=) c.913_930delinsCCGACTGCAAGGACAAAT c.314-1827_314-1810delinsCCGACTGCAAGGACAAAT (n.314-1827_314-1810delinsCCGACTGCAAGGACAAAT) c.536_553delinsCCGACTGCAAGGACAAAT (p.Pro179=) c.314-1000_314-983delinsCCGACTGCAAGGACAAAT (n.314-1000_314-983delinsCCGACTGCAAGGACAAAT) c.259_276delinsCCGACTGCAAGGACAAAT n.809_826delinsCCGACTGCAAGGACAAAT n.776_793delinsCCGACTGCAAGGACAAAT | |
19 | g.11105566C>A | CA505743506 | LDLR | c.918C>A (p.Pro306=) c.660C>A (p.Pro220=) c.914C>A c.314-1826C>A (n.314-1826C>A) c.537C>A (p.Pro179=) c.314-999C>A (n.314-999C>A) c.260C>A n.810C>A n.777C>A | dbSNP gnomAD v4 |
19 | g.11105566C= | CA2322767592 | LDLR | c.918C= (p.Pro306=) c.660C= (p.Pro220=) c.914C= c.314-1826C= (n.314-1826C=) c.537C= (p.Pro179=) c.314-999C= (n.314-999C=) c.260C= n.810C= n.777C= | |
19 | g.11105566C>G | CA505743507 | LDLR | c.918C>G (p.Pro306=) c.660C>G (p.Pro220=) c.914C>G c.314-1826C>G (n.314-1826C>G) c.537C>G (p.Pro179=) c.314-999C>G (n.314-999C>G) c.260C>G n.810C>G n.777C>G | gnomAD v4 |
19 | g.11105566C>T | CA044242 | LDLR | c.918C>T (p.Pro306=) c.660C>T (p.Pro220=) c.914C>T c.314-1826C>T (n.314-1826C>T) c.537C>T (p.Pro179=) c.314-999C>T (n.314-999C>T) c.260C>T n.810C>T n.777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105566_11105567delinsCG | CA2322767591 | LDLR | c.918_919delinsCG (p.Pro306=) c.660_661delinsCG (p.Pro220=) c.914_915delinsCG c.314-1826_314-1825delinsCG (n.314-1826_314-1825delinsCG) c.537_538delinsCG (p.Pro179=) c.314-999_314-998delinsCG (n.314-999_314-998delinsCG) c.260_261delinsCG n.810_811delinsCG n.777_778delinsCG | |
19 | g.11105567_11105569del | CA2497030142 | LDLR | c.919_921del (p.Asp307del) c.661_663del (p.Asp221del) c.915_917del c.314-1825_314-1823del (n.314-1825_314-1823del) c.538_540del (p.Asp180del) c.314-998_314-996del (n.314-998_314-996del) c.261_263del n.811_813del n.778_780del | |
19 | g.11105567_11105572dup | CA2695223209 | LDLR | c.919_924dup (p.Cys308_Lys309insAspCys) c.661_666dup (p.Cys222_Lys223insAspCys) c.915_920dup c.314-1825_314-1820dup (n.314-1825_314-1820dup) c.538_543dup (p.Cys181_Lys182insAspCys) c.314-998_314-993dup (n.314-998_314-993dup) c.261_266dup n.811_816dup n.778_783dup | |
19 | g.11105567_11105583del | CA10585048 | LDLR | c.919_935del (p.Asp307Ter) c.661_677del (p.Asp221Ter) c.915_931del c.314-1825_314-1809del (n.314-1825_314-1809del) c.538_554del (p.Asp180Ter) c.314-998_314-982del (n.314-998_314-982del) c.261_277del n.811_827del n.778_794del | ClinVar dbSNP |
19 | g.11105566_11105584delinsCGACTGCAAGGACAAATCT | CA2322767593 | LDLR | c.918_936delinsCGACTGCAAGGACAAATCT (p.Pro306=) c.660_678delinsCGACTGCAAGGACAAATCT (p.Pro220=) c.914_932delinsCGACTGCAAGGACAAATCT c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT (n.314-1826_314-1808delinsCGACTGCAAGGACAAATCT) c.537_555delinsCGACTGCAAGGACAAATCT (p.Pro179=) c.314-999_314-981delinsCGACTGCAAGGACAAATCT (n.314-999_314-981delinsCGACTGCAAGGACAAATCT) c.260_278delinsCGACTGCAAGGACAAATCT n.810_828delinsCGACTGCAAGGACAAATCT n.777_795delinsCGACTGCAAGGACAAATCT | |
19 | g.11105569_11105589dup | CA10585050 | LDLR | c.921_941dup (p.Asp313_Glu314insAspCysLysAspLysSerAsp) c.663_683dup (p.Asp227_Glu228insAspCysLysAspLysSerAsp) c.917_937dup c.314-1823_314-1803dup (n.314-1823_314-1803dup) c.540_560dup (p.Asp186_Glu187insAspCysLysAspLysSerAsp) c.314-996_314-976dup (n.314-996_314-976dup) c.263_283dup n.813_833dup n.780_800dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105566_11105567insTG | CA358877 | LDLR | c.918_919insTG (p.Asp307TrpfsTer?) c.660_661insTG (p.Asp221TrpfsTer?) c.914_915insTG c.314-1826_314-1825insTG (n.314-1826_314-1825insTG) c.537_538insTG (p.Asp180TrpfsTer?) c.314-999_314-998insTG (n.314-999_314-998insTG) c.260_261insTG n.810_811insTG n.777_778insTG | ClinVar dbSNP |
19 | g.11105567G>A | CA10576287 | LDLR | c.919G>A (p.Asp307Asn) c.661G>A (p.Asp221Asn) c.915G>A c.314-1825G>A (n.314-1825G>A) c.538G>A (p.Asp180Asn) c.314-998G>A (n.314-998G>A) c.261G>A n.811G>A n.778G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105567G>C | CA404078332 | LDLR | c.919G>C (p.Asp307His) c.661G>C (p.Asp221His) c.915G>C c.314-1825G>C (n.314-1825G>C) c.538G>C (p.Asp180His) c.314-998G>C (n.314-998G>C) c.261G>C n.811G>C n.778G>C | |
19 | g.11105567G= | CA2322767594 | LDLR | c.919G= (p.Asp307=) c.661G= (p.Asp221=) c.915G= c.314-1825G= (n.314-1825G=) c.538G= (p.Asp180=) c.314-998G= (n.314-998G=) c.261G= n.811G= n.778G= | |
19 | g.11105567G>T | CA10585046 | LDLR | c.919G>T (p.Asp307Tyr) c.661G>T (p.Asp221Tyr) c.915G>T c.314-1825G>T (n.314-1825G>T) c.538G>T (p.Asp180Tyr) c.314-998G>T (n.314-998G>T) c.261G>T n.811G>T n.778G>T | ClinVar dbSNP |
19 | g.11105567delinsCA | CA2573332391 | LDLR | c.919delinsCA (p.Asp307GlnfsTer7) c.661delinsCA (p.Asp221GlnfsTer7) c.915delinsCA c.314-1825delinsCA (n.314-1825delinsCA) c.538delinsCA (p.Asp180GlnfsTer7) c.314-998delinsCA (n.314-998delinsCA) c.261delinsCA n.811delinsCA n.778delinsCA | |
19 | g.11105567delinsATCAC | CA1139666253 | LDLR | c.919delinsATCAC (p.Asp307IlefsTer8) c.661delinsATCAC (p.Asp221IlefsTer8) c.915delinsATCAC c.314-1825delinsATCAC (n.314-1825delinsATCAC) c.538delinsATCAC (p.Asp180IlefsTer8) c.314-998delinsATCAC (n.314-998delinsATCAC) c.261delinsATCAC n.811delinsATCAC n.778delinsATCAC | ClinVar dbSNP |
19 | g.11105568_11105571dup | CA2573130222 | LDLR | c.920_923dup (p.Cys308Ter) c.662_665dup (p.Cys222Ter) c.916_919dup c.314-1824_314-1821dup (n.314-1824_314-1821dup) c.539_542dup (p.Cys181Ter) c.314-997_314-994dup (n.314-997_314-994dup) c.262_265dup n.812_815dup n.779_782dup | |
19 | g.11105568_11105575del | CA2695238678 | LDLR | c.920_927del (p.Asp307GlyfsTer4) c.662_669del (p.Asp221GlyfsTer4) c.916_923del c.314-1824_314-1817del (n.314-1824_314-1817del) c.539_546del (p.Asp180GlyfsTer4) c.314-997_314-990del (n.314-997_314-990del) c.262_269del n.812_819del n.779_786del | |
19 | g.11105570_11105578dup | CA2830763870 | LDLR | c.922_930dup (p.Asp310_Lys311insCysLysAsp) c.664_672dup (p.Asp224_Lys225insCysLysAsp) c.918_926dup c.314-1822_314-1814dup (n.314-1822_314-1814dup) c.541_549dup (p.Asp183_Lys184insCysLysAsp) c.314-995_314-987dup (n.314-995_314-987dup) c.264_272dup n.814_822dup n.781_789dup | |
19 | g.11105570_11105578del | CA2739276481 | LDLR | c.922_930del (p.Cys308_Asp310del) c.664_672del (p.Cys222_Asp224del) c.918_926del c.314-1822_314-1814del (n.314-1822_314-1814del) c.541_549del (p.Cys181_Asp183del) c.314-995_314-987del (n.314-995_314-987del) c.264_272del n.814_822del n.781_789del | ClinVar |
19 | g.11105567_11105579dup | CA10585047 | LDLR | c.919_931dup (p.Lys311ArgfsTer7) c.661_673dup (p.Lys225ArgfsTer7) c.915_927dup c.314-1825_314-1813dup (n.314-1825_314-1813dup) c.538_550dup (p.Lys184ArgfsTer7) c.314-998_314-986dup (n.314-998_314-986dup) c.261_273dup n.811_823dup n.778_790dup | ClinVar dbSNP |
19 | g.11105570_11105587dup | CA250482 | LDLR | c.922_939dup (p.Asp313_Glu314insCysLysAspLysSerAsp) c.664_681dup (p.Asp227_Glu228insCysLysAspLysSerAsp) c.918_935dup c.314-1822_314-1805dup (n.314-1822_314-1805dup) c.541_558dup (p.Asp186_Glu187insCysLysAspLysSerAsp) c.314-995_314-978dup (n.314-995_314-978dup) c.264_281dup n.814_831dup n.781_798dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105570_11105587del | CA16602305 | LDLR | c.922_939del (p.Cys308_Asp313del) c.664_681del (p.Cys222_Asp227del) c.918_935del c.314-1822_314-1805del (n.314-1822_314-1805del) c.541_558del (p.Cys181_Asp186del) c.314-995_314-978del (n.314-995_314-978del) c.264_281del n.814_831del n.781_798del | ClinVar dbSNP |
19 | g.11105567_11105588dup | CA2695238672 | LDLR | c.919_940dup (p.Glu314GlyfsTer7) c.661_682dup (p.Glu228GlyfsTer7) c.915_936dup c.314-1825_314-1804dup (n.314-1825_314-1804dup) c.538_559dup (p.Glu187GlyfsTer7) c.314-998_314-977dup (n.314-998_314-977dup) c.261_282dup n.811_832dup n.778_799dup | |
19 | g.11105567_11105594delinsGACTGCAAGGACAAATCTGACGAGGAAA | CA2322767595 | LDLR | c.919_946delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp307=) c.661_688delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp221=) c.915_942delinsGACTGCAAGGACAAATCTGACGAGGAAA c.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.538_565delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp180=) c.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.261_288delinsGACTGCAAGGACAAATCTGACGAGGAAA n.811_838delinsGACTGCAAGGACAAATCTGACGAGGAAA n.778_805delinsGACTGCAAGGACAAATCTGACGAGGAAA | |
19 | g.11105568A= | CA2322767596 | LDLR | c.920A= (p.Asp307=) c.662A= (p.Asp221=) c.916A= c.314-1824A= (n.314-1824A=) c.539A= (p.Asp180=) c.314-997A= (n.314-997A=) c.262A= n.812A= n.779A= | |
19 | g.11105568A>C | CA404078340 | LDLR | c.920A>C (p.Asp307Ala) c.662A>C (p.Asp221Ala) c.916A>C c.314-1824A>C (n.314-1824A>C) c.539A>C (p.Asp180Ala) c.314-997A>C (n.314-997A>C) c.262A>C n.812A>C n.779A>C | |
19 | g.11105568A>G | CA023739 | LDLR | c.920A>G (p.Asp307Gly) c.662A>G (p.Asp221Gly) c.916A>G c.314-1824A>G (n.314-1824A>G) c.539A>G (p.Asp180Gly) c.314-997A>G (n.314-997A>G) c.262A>G n.812A>G n.779A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105568A>T | CA10585049 | LDLR | c.920A>T (p.Asp307Val) c.662A>T (p.Asp221Val) c.916A>T c.314-1824A>T (n.314-1824A>T) c.539A>T (p.Asp180Val) c.314-997A>T (n.314-997A>T) c.262A>T n.812A>T n.779A>T | ClinVar dbSNP |
19 | g.11105568_11105587dup | CA645509263 | LDLR | c.920_939dup (p.Glu314ThrfsTer?) c.662_681dup (p.Glu228ThrfsTer?) c.916_935dup c.314-1824_314-1805dup (n.314-1824_314-1805dup) c.539_558dup (p.Glu187ThrfsTer?) c.314-997_314-978dup (n.314-997_314-978dup) c.262_281dup n.812_831dup n.779_798dup | ClinVar dbSNP |
19 | g.11105573_11105599del | CA10585056 | LDLR | c.925_951del (p.Lys309_Cys317del) c.667_693del (p.Lys223_Cys231del) c.921_947del c.314-1819_314-1793del (n.314-1819_314-1793del) c.544_570del (p.Lys182_Cys190del) c.314-992_314-966del (n.314-992_314-966del) c.267_293del n.817_843del n.784_810del | ClinVar dbSNP |
19 | g.11105569C>A | CA404078344 | LDLR | c.921C>A (p.Asp307Glu) c.663C>A (p.Asp221Glu) c.917C>A c.314-1823C>A (n.314-1823C>A) c.540C>A (p.Asp180Glu) c.314-996C>A (n.314-996C>A) c.263C>A n.813C>A n.780C>A | |
19 | g.11105569C= | CA2322767598 | LDLR | c.921C= (p.Asp307=) c.663C= (p.Asp221=) c.917C= c.314-1823C= (n.314-1823C=) c.540C= (p.Asp180=) c.314-996C= (n.314-996C=) c.263C= n.813C= n.780C= | |
19 | g.11105569C>G | CA404078342 | LDLR | c.921C>G (p.Asp307Glu) c.663C>G (p.Asp221Glu) c.917C>G c.314-1823C>G (n.314-1823C>G) c.540C>G (p.Asp180Glu) c.314-996C>G (n.314-996C>G) c.263C>G n.813C>G n.780C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105569C>T | CA505743508 | LDLR | c.921C>T (p.Asp307=) c.663C>T (p.Asp221=) c.917C>T c.314-1823C>T (n.314-1823C>T) c.540C>T (p.Asp180=) c.314-996C>T (n.314-996C>T) c.263C>T n.813C>T n.780C>T | ClinVar |
19 | g.11105569_11105570insCCCGC | CA2573050580 | LDLR | c.921_922insCCCGC (p.Cys308ProfsTer?) c.663_664insCCCGC (p.Cys222ProfsTer?) c.917_918insCCCGC c.314-1823_314-1822insCCCGC (n.314-1823_314-1822insCCCGC) c.540_541insCCCGC (p.Cys181ProfsTer?) c.314-996_314-995insCCCGC (n.314-996_314-995insCCCGC) c.263_264insCCCGC n.813_814insCCCGC n.780_781insCCCGC | |
19 | g.11105572_11105585del | CA2582473248 | LDLR | c.924_937del (p.Cys308Ter) c.666_679del (p.Cys222Ter) c.920_933del c.314-1820_314-1807del (n.314-1820_314-1807del) c.543_556del (p.Cys181Ter) c.314-993_314-980del (n.314-993_314-980del) c.266_279del n.816_829del n.783_796del | gnomAD v4 |
19 | g.11105569_11105587delinsCTGCAAGGACAAATCTGAC | CA2322767597 | LDLR | c.921_939delinsCTGCAAGGACAAATCTGAC (p.Asp307=) c.663_681delinsCTGCAAGGACAAATCTGAC (p.Asp221=) c.917_935delinsCTGCAAGGACAAATCTGAC c.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC (n.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC) c.540_558delinsCTGCAAGGACAAATCTGAC (p.Asp180=) c.314-996_314-978delinsCTGCAAGGACAAATCTGAC (n.314-996_314-978delinsCTGCAAGGACAAATCTGAC) c.263_281delinsCTGCAAGGACAAATCTGAC n.813_831delinsCTGCAAGGACAAATCTGAC n.780_798delinsCTGCAAGGACAAATCTGAC | |
19 | g.11105569_11105587dup | CA2582473247 | LDLR | c.921_939dup (p.Glu314LeufsTer6) c.663_681dup (p.Glu228LeufsTer6) c.917_935dup c.314-1823_314-1805dup (n.314-1823_314-1805dup) c.540_558dup (p.Glu187LeufsTer6) c.314-996_314-978dup (n.314-996_314-978dup) c.263_281dup n.813_831dup n.780_798dup | gnomAD v4 |
19 | g.11105570T>A | CA404078346 | LDLR | c.922T>A (p.Cys308Ser) c.664T>A (p.Cys222Ser) c.918T>A c.314-1822T>A (n.314-1822T>A) c.541T>A (p.Cys181Ser) c.314-995T>A (n.314-995T>A) c.264T>A n.814T>A n.781T>A | |
19 | g.11105570T>C | CA044260 | LDLR | c.922T>C (p.Cys308Arg) c.664T>C (p.Cys222Arg) c.918T>C c.314-1822T>C (n.314-1822T>C) c.541T>C (p.Cys181Arg) c.314-995T>C (n.314-995T>C) c.264T>C n.814T>C n.781T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105570T>G | CA10585051 | LDLR | c.922T>G (p.Cys308Gly) c.664T>G (p.Cys222Gly) c.918T>G c.314-1822T>G (n.314-1822T>G) c.541T>G (p.Cys181Gly) c.314-995T>G (n.314-995T>G) c.264T>G n.814T>G n.781T>G | ClinVar dbSNP |
19 | g.11105570T= | CA2322767599 | LDLR | c.922T= (p.Cys308=) c.664T= (p.Cys222=) c.918T= c.314-1822T= (n.314-1822T=) c.541T= (p.Cys181=) c.314-995T= (n.314-995T=) c.264T= n.814T= n.781T= | |
19 | g.11105570_11105587delinsCCGACTG | CA10585052 | LDLR | c.922_939delinsCCGACTG (p.Cys308ProfsTer14) c.664_681delinsCCGACTG (p.Cys222ProfsTer14) c.918_935delinsCCGACTG c.314-1822_314-1805delinsCCGACTG (n.314-1822_314-1805delinsCCGACTG) c.541_558delinsCCGACTG (p.Cys181ProfsTer14) c.314-995_314-978delinsCCGACTG (n.314-995_314-978delinsCCGACTG) c.264_281delinsCCGACTG n.814_831delinsCCGACTG n.781_798delinsCCGACTG | ClinVar dbSNP |
19 | g.11105570_11105588dup | CA2695238671 | LDLR | c.922_940dup (p.Glu314ValfsTer6) c.664_682dup (p.Glu228ValfsTer6) c.918_936dup c.314-1822_314-1804dup (n.314-1822_314-1804dup) c.541_559dup (p.Glu187ValfsTer6) c.314-995_314-977dup (n.314-995_314-977dup) c.264_282dup n.814_832dup n.781_799dup | |
19 | g.11105571G>A | CA023742 | LDLR | c.923G>A (p.Cys308Tyr) c.665G>A (p.Cys222Tyr) c.919G>A c.314-1821G>A (n.314-1821G>A) c.542G>A (p.Cys181Tyr) c.314-994G>A (n.314-994G>A) c.265G>A n.815G>A n.782G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105571G>C | CA404078352 | LDLR | c.923G>C (p.Cys308Ser) c.665G>C (p.Cys222Ser) c.919G>C c.314-1821G>C (n.314-1821G>C) c.542G>C (p.Cys181Ser) c.314-994G>C (n.314-994G>C) c.265G>C n.815G>C n.782G>C | |
19 | g.11105571G= | CA2322767600 | LDLR | c.923G= (p.Cys308=) c.665G= (p.Cys222=) c.919G= c.314-1821G= (n.314-1821G=) c.542G= (p.Cys181=) c.314-994G= (n.314-994G=) c.265G= n.815G= n.782G= | |
19 | g.11105571G>T | CA10585053 | LDLR | c.923G>T (p.Cys308Phe) c.665G>T (p.Cys222Phe) c.919G>T c.314-1821G>T (n.314-1821G>T) c.542G>T (p.Cys181Phe) c.314-994G>T (n.314-994G>T) c.265G>T n.815G>T n.782G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105571_11105579dup | CA2573155713 | LDLR | c.923_931dup (p.Asp310_Lys311insSerLysAsp) c.665_673dup (p.Asp224_Lys225insSerLysAsp) c.919_927dup c.314-1821_314-1813dup (n.314-1821_314-1813dup) c.542_550dup (p.Asp183_Lys184insSerLysAsp) c.314-994_314-986dup (n.314-994_314-986dup) c.265_273dup n.815_823dup n.782_790dup | ClinVar dbSNP |
19 | g.11105571_11105585dup | CA2580096479 | LDLR | c.923_937dup (p.Ser312_Asp313insGlyLysAspLysSer) c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) c.919_933dup c.314-1821_314-1807dup (n.314-1821_314-1807dup) c.542_556dup (p.Ser185_Asp186insGlyLysAspLysSer) c.314-994_314-980dup (n.314-994_314-980dup) c.265_279dup n.815_829dup n.782_796dup | ClinVar |
19 | g.11105572_11105588dup | CA16602306 | LDLR | c.924_940dup (p.Glu314AlafsTer?) c.666_682dup (p.Glu228AlafsTer?) c.920_936dup c.314-1820_314-1804dup (n.314-1820_314-1804dup) c.543_559dup (p.Glu187AlafsTer?) c.314-993_314-977dup (n.314-993_314-977dup) c.266_282dup n.816_832dup n.783_799dup | ClinVar dbSNP |
19 | g.11105571_11105593delinsGCAAGGACAAATCTGACGAGGAA | CA2322767601 | LDLR | c.923_945delinsGCAAGGACAAATCTGACGAGGAA (p.Cys308=) c.665_687delinsGCAAGGACAAATCTGACGAGGAA (p.Cys222=) c.919_941delinsGCAAGGACAAATCTGACGAGGAA c.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA (n.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA) c.542_564delinsGCAAGGACAAATCTGACGAGGAA (p.Cys181=) c.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA (n.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA) c.265_287delinsGCAAGGACAAATCTGACGAGGAA n.815_837delinsGCAAGGACAAATCTGACGAGGAA n.782_804delinsGCAAGGACAAATCTGACGAGGAA | |
19 | g.11105571_11105594delinsGCAAGGACAAATCTGACGAGGAAA | CA2322767602 | LDLR | c.923_946delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys308=) c.665_688delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys222=) c.919_942delinsGCAAGGACAAATCTGACGAGGAAA c.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA (n.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA) c.542_565delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys181=) c.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA (n.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA) c.265_288delinsGCAAGGACAAATCTGACGAGGAAA n.815_838delinsGCAAGGACAAATCTGACGAGGAAA n.782_805delinsGCAAGGACAAATCTGACGAGGAAA | |
19 | g.11105572del | CA2497030125 | LDLR | c.924del (p.Cys308Ter) c.666del (p.Cys222Ter) c.920del c.314-1820del (n.314-1820del) c.543del (p.Cys181Ter) c.314-993del (n.314-993del) c.266del n.816del n.783del | |
19 | g.11105572C>A | CA044280 | LDLR | c.924C>A (p.Cys308Ter) c.666C>A (p.Cys222Ter) c.920C>A c.314-1820C>A (n.314-1820C>A) c.543C>A (p.Cys181Ter) c.314-993C>A (n.314-993C>A) c.266C>A n.816C>A n.783C>A | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11105572C= | CA2322767603 | LDLR | c.924C= (p.Cys308=) c.666C= (p.Cys222=) c.920C= c.314-1820C= (n.314-1820C=) c.543C= (p.Cys181=) c.314-993C= (n.314-993C=) c.266C= n.816C= n.783C= | |
19 | g.11105572C>G | CA10585054 | LDLR | c.924C>G (p.Cys308Trp) c.666C>G (p.Cys222Trp) c.920C>G c.314-1820C>G (n.314-1820C>G) c.543C>G (p.Cys181Trp) c.314-993C>G (n.314-993C>G) c.266C>G n.816C>G n.783C>G | ClinVar dbSNP |
19 | g.11105572C>T | CA505743509 | LDLR | c.924C>T (p.Cys308=) c.666C>T (p.Cys222=) c.920C>T c.314-1820C>T (n.314-1820C>T) c.543C>T (p.Cys181=) c.314-993C>T (n.314-993C>T) c.266C>T n.816C>T n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105573_11105583del | CA2580096482 | LDLR | c.925_935del (p.Lys309Ter) c.667_677del (p.Lys223Ter) c.921_931del c.314-1819_314-1809del (n.314-1819_314-1809del) c.544_554del (p.Lys182Ter) c.314-992_314-982del (n.314-992_314-982del) c.267_277del n.817_827del n.784_794del | ClinVar |
19 | g.11105573_11105587dup | CA2573130223 | LDLR | c.925_939dup (p.Asp313_Glu314insLysAspLysSerAsp) c.667_681dup (p.Asp227_Glu228insLysAspLysSerAsp) c.921_935dup c.314-1819_314-1805dup (n.314-1819_314-1805dup) c.544_558dup (p.Asp186_Glu187insLysAspLysSerAsp) c.314-992_314-978dup (n.314-992_314-978dup) c.267_281dup n.817_831dup n.784_798dup | |
19 | g.11105573_11105587del | CA2573054702 | LDLR | c.925_939del (p.Lys309_Asp313del) c.667_681del (p.Lys223_Asp227del) c.921_935del c.314-1819_314-1805del (n.314-1819_314-1805del) c.544_558del (p.Lys182_Asp186del) c.314-992_314-978del (n.314-992_314-978del) c.267_281del n.817_831del n.784_798del | ClinVar dbSNP |
19 | g.11105572_11105593del | CA10585055 | LDLR | c.924_945del (p.Cys308Ter) c.666_687del (p.Cys222Ter) c.920_941del c.314-1820_314-1799del (n.314-1820_314-1799del) c.543_564del (p.Cys181Ter) c.314-993_314-972del (n.314-993_314-972del) c.266_287del n.816_837del n.783_804del | ClinVar dbSNP |
19 | g.11105572_11105594del | CA645373228 | LDLR | c.924_946del (p.Cys308Ter) c.666_688del (p.Cys222Ter) c.920_942del c.314-1820_314-1798del (n.314-1820_314-1798del) c.543_565del (p.Cys181Ter) c.314-993_314-971del (n.314-993_314-971del) c.266_288del n.816_838del n.783_805del | ClinVar dbSNP |
19 | g.11105573A= | CA2322767604 | LDLR | c.925A= (p.Lys309=) c.667A= (p.Lys223=) c.921A= c.314-1819A= (n.314-1819A=) c.544A= (p.Lys182=) c.314-992A= (n.314-992A=) c.267A= n.817A= n.784A= | |
19 | g.11105573A>C | CA404078362 | LDLR | c.925A>C (p.Lys309Gln) c.667A>C (p.Lys223Gln) c.921A>C c.314-1819A>C (n.314-1819A>C) c.544A>C (p.Lys182Gln) c.314-992A>C (n.314-992A>C) c.267A>C n.817A>C n.784A>C | |
19 | g.11105573A>G | CA404078358 | LDLR | c.925A>G (p.Lys309Glu) c.667A>G (p.Lys223Glu) c.921A>G c.314-1819A>G (n.314-1819A>G) c.544A>G (p.Lys182Glu) c.314-992A>G (n.314-992A>G) c.267A>G n.817A>G n.784A>G | gnomAD v4 |
19 | g.11105573A>T | CA404078360 | LDLR | c.925A>T (p.Lys309Ter) c.667A>T (p.Lys223Ter) c.921A>T c.314-1819A>T (n.314-1819A>T) c.544A>T (p.Lys182Ter) c.314-992A>T (n.314-992A>T) c.267A>T n.817A>T n.784A>T | |
19 | g.11105573_11105586dup | CA2573050581 | LDLR | c.925_938dup (p.Asp313GlufsTer?) c.667_680dup (p.Asp227GlufsTer?) c.921_934dup c.314-1819_314-1806dup (n.314-1819_314-1806dup) c.544_557dup (p.Asp186GlufsTer?) c.314-992_314-979dup (n.314-992_314-979dup) c.267_280dup n.817_830dup n.784_797dup | |
19 | g.11105573_11105588delinsAAGGACAAATCTGACG | CA2322767605 | LDLR | c.925_940delinsAAGGACAAATCTGACG (p.Lys309=) c.667_682delinsAAGGACAAATCTGACG (p.Lys223=) c.921_936delinsAAGGACAAATCTGACG c.314-1819_314-1804delinsAAGGACAAATCTGACG (n.314-1819_314-1804delinsAAGGACAAATCTGACG) c.544_559delinsAAGGACAAATCTGACG (p.Lys182=) c.314-992_314-977delinsAAGGACAAATCTGACG (n.314-992_314-977delinsAAGGACAAATCTGACG) c.267_282delinsAAGGACAAATCTGACG n.817_832delinsAAGGACAAATCTGACG n.784_799delinsAAGGACAAATCTGACG | |
19 | g.11105574A= | CA2322767606 | LDLR | c.926A= (p.Lys309=) c.668A= (p.Lys223=) c.922A= c.314-1818A= (n.314-1818A=) c.545A= (p.Lys182=) c.314-991A= (n.314-991A=) c.268A= n.818A= n.785A= | |
19 | g.11105574A>C | CA404078367 | LDLR | c.926A>C (p.Lys309Thr) c.668A>C (p.Lys223Thr) c.922A>C c.314-1818A>C (n.314-1818A>C) c.545A>C (p.Lys182Thr) c.314-991A>C (n.314-991A>C) c.268A>C n.818A>C n.785A>C | |
19 | g.11105574A>G | CA404078365 | LDLR | c.926A>G (p.Lys309Arg) c.668A>G (p.Lys223Arg) c.922A>G c.314-1818A>G (n.314-1818A>G) c.545A>G (p.Lys182Arg) c.314-991A>G (n.314-991A>G) c.268A>G n.818A>G n.785A>G | |
19 | g.11105574A>T | CA404078370 | LDLR | c.926A>T (p.Lys309Met) c.668A>T (p.Lys223Met) c.922A>T c.314-1818A>T (n.314-1818A>T) c.545A>T (p.Lys182Met) c.314-991A>T (n.314-991A>T) c.268A>T n.818A>T n.785A>T | |
19 | g.11105574_11105582delinsAGGACAAAT | CA2322767608 | LDLR | c.926_934delinsAGGACAAAT (p.Lys309=) c.668_676delinsAGGACAAAT (p.Lys223=) c.922_930delinsAGGACAAAT c.314-1818_314-1810delinsAGGACAAAT (n.314-1818_314-1810delinsAGGACAAAT) c.545_553delinsAGGACAAAT (p.Lys182=) c.314-991_314-983delinsAGGACAAAT (n.314-991_314-983delinsAGGACAAAT) c.268_276delinsAGGACAAAT n.818_826delinsAGGACAAAT n.785_793delinsAGGACAAAT | |
19 | g.11105575_11105586dup | CA10585060 | LDLR | c.927_938dup (p.Ser312_Asp313insGluAspLysSer) c.669_680dup (p.Ser226_Asp227insGluAspLysSer) c.923_934dup c.314-1817_314-1806dup (n.314-1817_314-1806dup) c.546_557dup (p.Ser185_Asp186insGluAspLysSer) c.314-990_314-979dup (n.314-990_314-979dup) c.269_280dup n.819_830dup n.786_797dup | ClinVar dbSNP |
19 | g.11105574_11105587dup | CA10585057 | LDLR | c.926_939dup (p.Glu314ArgfsTer?) c.668_681dup (p.Glu228ArgfsTer?) c.922_935dup c.314-1818_314-1805dup (n.314-1818_314-1805dup) c.545_558dup (p.Glu187ArgfsTer?) c.314-991_314-978dup (n.314-991_314-978dup) c.268_281dup n.818_831dup n.785_798dup | ClinVar dbSNP |
19 | g.11105574_11105589delinsAGGACAAATCTGACGA | CA2322767607 | LDLR | c.926_941delinsAGGACAAATCTGACGA (p.Lys309=) c.668_683delinsAGGACAAATCTGACGA (p.Lys223=) c.922_937delinsAGGACAAATCTGACGA c.314-1818_314-1803delinsAGGACAAATCTGACGA (n.314-1818_314-1803delinsAGGACAAATCTGACGA) c.545_560delinsAGGACAAATCTGACGA (p.Lys182=) c.314-991_314-976delinsAGGACAAATCTGACGA (n.314-991_314-976delinsAGGACAAATCTGACGA) c.268_283delinsAGGACAAATCTGACGA n.818_833delinsAGGACAAATCTGACGA n.785_800delinsAGGACAAATCTGACGA | |
19 | g.11105578_11105592del | CA658653703 | LDLR | c.930_944del (p.Asp310_Glu314del) c.672_686del (p.Asp224_Glu228del) c.926_940del c.314-1814_314-1800del (n.314-1814_314-1800del) c.549_563del (p.Asp183_Glu187del) c.314-987_314-973del (n.314-987_314-973del) c.272_286del n.822_836del n.789_803del | ClinVar dbSNP |
19 | g.11105575G>A | CA505743510 | LDLR | c.927G>A (p.Lys309=) c.669G>A (p.Lys223=) c.923G>A c.314-1817G>A (n.314-1817G>A) c.546G>A (p.Lys182=) c.314-990G>A (n.314-990G>A) c.269G>A n.819G>A n.786G>A | ClinVar gnomAD v4 COSMIC |
19 | g.11105575G>C | CA10585058 | LDLR | c.927G>C (p.Lys309Asn) c.669G>C (p.Lys223Asn) c.923G>C c.314-1817G>C (n.314-1817G>C) c.546G>C (p.Lys182Asn) c.314-990G>C (n.314-990G>C) c.269G>C n.819G>C n.786G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105575G= | CA2322767609 | LDLR | c.927G= (p.Lys309=) c.669G= (p.Lys223=) c.923G= c.314-1817G= (n.314-1817G=) c.546G= (p.Lys182=) c.314-990G= (n.314-990G=) c.269G= n.819G= n.786G= | |
19 | g.11105575G>T | CA404078373 | LDLR | c.927G>T (p.Lys309Asn) c.669G>T (p.Lys223Asn) c.923G>T c.314-1817G>T (n.314-1817G>T) c.546G>T (p.Lys182Asn) c.314-990G>T (n.314-990G>T) c.269G>T n.819G>T n.786G>T | |
19 | g.11105576dup | CA10585062 | LDLR | c.928dup (p.Asp310GlyfsTer4) c.670dup (p.Asp224GlyfsTer4) c.924dup c.314-1816dup (n.314-1816dup) c.547dup (p.Asp183GlyfsTer4) c.314-989dup (n.314-989dup) c.270dup n.820dup n.787dup | ClinVar dbSNP |
19 | g.11105575_11105581delinsGGACAAA | CA2322767610 | LDLR | c.927_933delinsGGACAAA (p.Lys309=) c.669_675delinsGGACAAA (p.Lys223=) c.923_929delinsGGACAAA c.314-1817_314-1811delinsGGACAAA (n.314-1817_314-1811delinsGGACAAA) c.546_552delinsGGACAAA (p.Lys182=) c.314-990_314-984delinsGGACAAA (n.314-990_314-984delinsGGACAAA) c.269_275delinsGGACAAA n.819_825delinsGGACAAA n.786_792delinsGGACAAA | |
19 | g.11105575_11105582del | CA645509264 | LDLR | c.927_934del (p.Lys309AsnfsTer2) c.669_676del (p.Lys223AsnfsTer2) c.923_930del c.314-1817_314-1810del (n.314-1817_314-1810del) c.546_553del (p.Lys182AsnfsTer2) c.314-990_314-983del (n.314-990_314-983del) c.269_276del n.819_826del n.786_793del | ClinVar dbSNP |
19 | g.11105576_11105585dup | CA2573130224 | LDLR | c.928_937dup (p.Asp313GlyfsTer4) c.670_679dup (p.Asp227GlyfsTer4) c.924_933dup c.314-1816_314-1807dup (n.314-1816_314-1807dup) c.547_556dup (p.Asp186GlyfsTer4) c.314-989_314-980dup (n.314-989_314-980dup) c.270_279dup n.820_829dup n.787_796dup | |
19 | g.11105575_11105585dup | CA10585059 | LDLR | c.927_937dup (p.Asp313GlyfsTer?) c.669_679dup (p.Asp227GlyfsTer?) c.923_933dup c.314-1817_314-1807dup (n.314-1817_314-1807dup) c.546_556dup (p.Asp186GlyfsTer?) c.314-990_314-980dup (n.314-990_314-980dup) c.269_279dup n.819_829dup n.786_796dup | ClinVar dbSNP |
19 | g.11105576_11105588dup | CA2695223210 | LDLR | c.928_940dup (p.Glu314GlyfsTer4) c.670_682dup (p.Glu228GlyfsTer4) c.924_936dup c.314-1816_314-1804dup (n.314-1816_314-1804dup) c.547_559dup (p.Glu187GlyfsTer4) c.314-989_314-977dup (n.314-989_314-977dup) c.270_282dup n.820_832dup n.787_799dup | |
19 | g.11105575_11105589delinsAACTGCGGTAAACTGCGGTAAACT | CA645373229 | LDLR | c.927_941delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp310_Glu314delinsThrAlaValAsnCysGlyLysLeu) c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu) c.923_937delinsAACTGCGGTAAACTGCGGTAAACT c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT (n.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT) c.546_560delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp183_Glu187delinsThrAlaValAsnCysGlyLysLeu) c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT (n.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT) c.269_283delinsAACTGCGGTAAACTGCGGTAAACT n.819_833delinsAACTGCGGTAAACTGCGGTAAACT n.786_800delinsAACTGCGGTAAACTGCGGTAAACT | ClinVar dbSNP |