Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100222_11107515delCA658824387LDLRc.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
19g.11101932_11106610delCA1139666288LDLRc.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
19g.11102141_11108134delCA2573050561LDLRc.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
19g.11102152_11108145delCA10584784LDLRc.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
19g.11102477_11108484delCA2573050562LDLRc.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
19g.11102664_11105600delCA2580061394LDLRc.449_952del
c.191_694del
c.445_948del
c.191_314-1792del
c.190+2319_571del
c.191_314-965del
n.341_844del
n.308_811del
ClinVar
19g.11102664_11106687delCA10584788LDLRc.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
19g.11102663_11107515delCA658824388LDLRc.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
19g.11102785_11107393delCA916084172LDLRc.570_1077del
c.312_819del
c.566_1073del
c.312_315del
c.191-2435_696del
c.312_438del
n.462_969del
n.429_936del
19g.11104109_11109216delCA2573050567LDLRc.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
19g.11104774_11112892dupCA2580612594LDLRc.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
19g.11105158_11111699dupCA2580612596LDLRc.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
19g.11105170_11111689dupCA2580612597LDLRc.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
19g.11105341_11105363delCA2582473461LDLRc.693_715del (p.Leu232ProfsTer26)
c.435_457del (p.Leu146ProfsTer26)
c.689_711del
c.314-2051_314-2029del (n.314-2051_314-2029del)
c.312_334del (p.Leu105ProfsTer26)
c.314-1224_314-1202del (n.314-1224_314-1202del)
c.35_57del
n.585_607del
n.552_574del
gnomAD v4
19g.11105345_11105357delCA2695223198LDLRc.697_709del (p.Thr233ProfsTer?)
c.439_451del (p.Thr147ProfsTer?)
c.693_705del
c.314-2047_314-2035del (n.314-2047_314-2035del)
c.316_328del (p.Thr106ProfsTer?)
c.314-1220_314-1208del (n.314-1220_314-1208del)
c.39_51del
n.589_601del
n.556_568del
19g.11105346_11105352delCA2582473462LDLRc.698_704del (p.Thr233IlefsTer?)
c.440_446del (p.Thr147IlefsTer?)
c.694_700del
c.314-2046_314-2040del (n.314-2046_314-2040del)
c.317_323del (p.Thr106IlefsTer?)
c.314-1219_314-1213del (n.314-1219_314-1213del)
c.40_46del
n.590_596del
n.557_563del
gnomAD v4
19g.11105346_11105356dupCA658653700LDLRc.698_708dup (p.Ala237ProfsTer?)
c.440_450dup (p.Ala151ProfsTer?)
c.694_704dup
c.314-2046_314-2036dup (n.314-2046_314-2036dup)
c.317_327dup (p.Ala110ProfsTer?)
c.314-1219_314-1209dup (n.314-1219_314-1209dup)
c.40_50dup
n.590_600dup
n.557_567dup
ClinVar dbSNP
19g.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACA2322767386LDLRc.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=)
c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=)
c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=)
c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
19g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACCA2322767387LDLRc.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=)
c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=)
c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=)
c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
19g.11105348_11105410delCA16602300LDLRc.700_762del (p.Cys234_Asp254del)
c.442_504del (p.Cys148_Asp168del)
c.696_758del
c.314-2044_314-1982del (n.314-2044_314-1982del)
c.319_381del (p.Cys107_Asp127del)
c.314-1217_314-1155del (n.314-1217_314-1155del)
c.42_104del
n.592_654del
n.559_621del
ClinVar dbSNP
19g.11105348T>ACA404076472LDLRc.700T>A (p.Cys234Ser)
c.442T>A (p.Cys148Ser)
c.696T>A
c.314-2044T>A (n.314-2044T>A)
c.319T>A (p.Cys107Ser)
c.314-1217T>A (n.314-1217T>A)
c.42T>A
n.592T>A
n.559T>A
19g.11105348T>CCA10584920LDLRc.700T>C (p.Cys234Arg)
c.442T>C (p.Cys148Arg)
c.696T>C
c.314-2044T>C (n.314-2044T>C)
c.319T>C (p.Cys107Arg)
c.314-1217T>C (n.314-1217T>C)
c.42T>C
n.592T>C
n.559T>C
ClinVar dbSNP
19g.11105348T>GCA404076467LDLRc.700T>G (p.Cys234Gly)
c.442T>G (p.Cys148Gly)
c.696T>G
c.314-2044T>G (n.314-2044T>G)
c.319T>G (p.Cys107Gly)
c.314-1217T>G (n.314-1217T>G)
c.42T>G
n.592T>G
n.559T>G
19g.11105348T=CA2322767388LDLRc.700T= (p.Cys234=)
c.442T= (p.Cys148=)
c.696T=
c.314-2044T= (n.314-2044T=)
c.319T= (p.Cys107=)
c.314-1217T= (n.314-1217T=)
c.42T=
n.592T=
n.559T=
19g.11105348_11105351dupCA2573050570LDLRc.700_703dup (p.Gly235ValfsTer?)
c.442_445dup (p.Gly149ValfsTer?)
c.696_699dup
c.314-2044_314-2041dup (n.314-2044_314-2041dup)
c.319_322dup (p.Gly108ValfsTer?)
c.314-1217_314-1214dup (n.314-1217_314-1214dup)
c.42_45dup
n.592_595dup
n.559_562dup
19g.11105348_11105368delinsACA2573050571LDLRc.700_720delinsA (p.Cys234MetfsTer25)
c.442_462delinsA (p.Cys148MetfsTer25)
c.696_716delinsA
c.314-2044_314-2024delinsA (n.314-2044_314-2024delinsA)
c.319_339delinsA (p.Cys107MetfsTer25)
c.314-1217_314-1197delinsA (n.314-1217_314-1197delinsA)
c.42_62delinsA
n.592_612delinsA
n.559_579delinsA
19g.11105348_11105410delinsACA645373223LDLRc.700_762delinsA (p.Cys234LysfsTer11)
c.442_504delinsA (p.Cys148LysfsTer11)
c.696_758delinsA
c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA)
c.319_381delinsA (p.Cys107LysfsTer11)
c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA)
c.42_104delinsA
n.592_654delinsA
n.559_621delinsA
ClinVar dbSNP
19g.11105349G>ACA10584921LDLRc.701G>A (p.Cys234Tyr)
c.443G>A (p.Cys148Tyr)
c.697G>A
c.314-2043G>A (n.314-2043G>A)
c.320G>A (p.Cys107Tyr)
c.314-1216G>A (n.314-1216G>A)
c.43G>A
n.593G>A
n.560G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105349G>CCA10584922LDLRc.701G>C (p.Cys234Ser)
c.443G>C (p.Cys148Ser)
c.697G>C
c.314-2043G>C (n.314-2043G>C)
c.320G>C (p.Cys107Ser)
c.314-1216G>C (n.314-1216G>C)
c.43G>C
n.593G>C
n.560G>C
ClinVar dbSNP
19g.11105349G=CA2322767389LDLRc.701G= (p.Cys234=)
c.443G= (p.Cys148=)
c.697G=
c.314-2043G= (n.314-2043G=)
c.320G= (p.Cys107=)
c.314-1216G= (n.314-1216G=)
c.43G=
n.593G=
n.560G=
19g.11105349G>TCA404076476LDLRc.701G>T (p.Cys234Phe)
c.443G>T (p.Cys148Phe)
c.697G>T
c.314-2043G>T (n.314-2043G>T)
c.320G>T (p.Cys107Phe)
c.314-1216G>T (n.314-1216G>T)
c.43G>T
n.593G>T
n.560G>T
19g.11105350T>ACA404076478LDLRc.702T>A (p.Cys234Ter)
c.444T>A (p.Cys148Ter)
c.698T>A
c.314-2042T>A (n.314-2042T>A)
c.321T>A (p.Cys107Ter)
c.314-1215T>A (n.314-1215T>A)
c.44T>A
n.594T>A
n.561T>A
19g.11105350T>CCA505743084LDLRc.702T>C (p.Cys234=)
c.444T>C (p.Cys148=)
c.698T>C
c.314-2042T>C (n.314-2042T>C)
c.321T>C (p.Cys107=)
c.314-1215T>C (n.314-1215T>C)
c.44T>C
n.594T>C
n.561T>C
19g.11105350T>GCA10584923LDLRc.702T>G (p.Cys234Trp)
c.444T>G (p.Cys148Trp)
c.698T>G
c.314-2042T>G (n.314-2042T>G)
c.321T>G (p.Cys107Trp)
c.314-1215T>G (n.314-1215T>G)
c.44T>G
n.594T>G
n.561T>G
ClinVar dbSNP
19g.11105350T=CA2322767390LDLRc.702T= (p.Cys234=)
c.444T= (p.Cys148=)
c.698T=
c.314-2042T= (n.314-2042T=)
c.321T= (p.Cys107=)
c.314-1215T= (n.314-1215T=)
c.44T=
n.594T=
n.561T=
19g.11105351G>ACA404076480LDLRc.703G>A (p.Gly235Ser)
c.445G>A (p.Gly149Ser)
c.699G>A
c.314-2041G>A (n.314-2041G>A)
c.322G>A (p.Gly108Ser)
c.314-1214G>A (n.314-1214G>A)
c.45G>A
n.595G>A
n.562G>A
19g.11105351G>CCA404076482LDLRc.703G>C (p.Gly235Arg)
c.445G>C (p.Gly149Arg)
c.699G>C
c.314-2041G>C (n.314-2041G>C)
c.322G>C (p.Gly108Arg)
c.314-1214G>C (n.314-1214G>C)
c.45G>C
n.595G>C
n.562G>C
ClinVar dbSNP
19g.11105351G=CA2322767391LDLRc.703G= (p.Gly235=)
c.445G= (p.Gly149=)
c.699G=
c.314-2041G= (n.314-2041G=)
c.322G= (p.Gly108=)
c.314-1214G= (n.314-1214G=)
c.45G=
n.595G=
n.562G=
19g.11105351G>TCA10584924LDLRc.703G>T (p.Gly235Cys)
c.445G>T (p.Gly149Cys)
c.699G>T
c.314-2041G>T (n.314-2041G>T)
c.322G>T (p.Gly108Cys)
c.314-1214G>T (n.314-1214G>T)
c.45G>T
n.595G>T
n.562G>T
ClinVar dbSNP gnomAD v4
19g.11105352_11110660delCA915941069LDLRc.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
19g.11105352G>ACA404076484LDLRc.704G>A (p.Gly235Asp)
c.446G>A (p.Gly149Asp)
c.700G>A
c.314-2040G>A (n.314-2040G>A)
c.323G>A (p.Gly108Asp)
c.314-1213G>A (n.314-1213G>A)
c.46G>A
n.596G>A
n.563G>A
19g.11105352G>CCA404076486LDLRc.704G>C (p.Gly235Ala)
c.446G>C (p.Gly149Ala)
c.700G>C
c.314-2040G>C (n.314-2040G>C)
c.323G>C (p.Gly108Ala)
c.314-1213G>C (n.314-1213G>C)
c.46G>C
n.596G>C
n.563G>C
19g.11105352G>TCA404076485LDLRc.704G>T (p.Gly235Val)
c.446G>T (p.Gly149Val)
c.700G>T
c.314-2040G>T (n.314-2040G>T)
c.323G>T (p.Gly108Val)
c.314-1213G>T (n.314-1213G>T)
c.46G>T
n.596G>T
n.563G>T
19g.11105353T>ACA505743090LDLRc.705T>A (p.Gly235=)
c.447T>A (p.Gly149=)
c.701T>A
c.314-2039T>A (n.314-2039T>A)
c.324T>A (p.Gly108=)
c.314-1212T>A (n.314-1212T>A)
c.47T>A
n.597T>A
n.564T>A
19g.11105353T>CCA043616LDLRc.705T>C (p.Gly235=)
c.447T>C (p.Gly149=)
c.701T>C
c.314-2039T>C (n.314-2039T>C)
c.324T>C (p.Gly108=)
c.314-1212T>C (n.314-1212T>C)
c.47T>C
n.597T>C
n.564T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105353T>GCA505743091LDLRc.705T>G (p.Gly235=)
c.447T>G (p.Gly149=)
c.701T>G
c.314-2039T>G (n.314-2039T>G)
c.324T>G (p.Gly108=)
c.314-1212T>G (n.314-1212T>G)
c.47T>G
n.597T>G
n.564T>G
19g.11105353T=CA2322767392LDLRc.705T= (p.Gly235=)
c.447T= (p.Gly149=)
c.701T=
c.314-2039T= (n.314-2039T=)
c.324T= (p.Gly108=)
c.314-1212T= (n.314-1212T=)
c.47T=
n.597T=
n.564T=
19g.11105354C>ACA404076488LDLRc.706C>A (p.Pro236Thr)
c.448C>A (p.Pro150Thr)
c.702C>A
c.314-2038C>A (n.314-2038C>A)
c.325C>A (p.Pro109Thr)
c.314-1211C>A (n.314-1211C>A)
c.48C>A
n.598C>A
n.565C>A
19g.11105354C>GCA404076490LDLRc.706C>G (p.Pro236Ala)
c.448C>G (p.Pro150Ala)
c.702C>G
c.314-2038C>G (n.314-2038C>G)
c.325C>G (p.Pro109Ala)
c.314-1211C>G (n.314-1211C>G)
c.48C>G
n.598C>G
n.565C>G
19g.11105354C>TCA404076492LDLRc.706C>T (p.Pro236Ser)
c.448C>T (p.Pro150Ser)
c.702C>T
c.314-2038C>T (n.314-2038C>T)
c.325C>T (p.Pro109Ser)
c.314-1211C>T (n.314-1211C>T)
c.48C>T
n.598C>T
n.565C>T
COSMIC

Number of alleles fetched