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.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.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.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.11105403_11105427delCA2695223203LDLRc.755_779del (p.Ala252GlufsTer?)
c.497_521del (p.Ala166GlufsTer?)
c.751_775del
c.314-1989_314-1965del (n.314-1989_314-1965del)
c.374_398del (p.Ala125GlufsTer?)
c.314-1162_314-1138del (n.314-1162_314-1138del)
c.97_121del
n.647_671del
n.614_638del
19g.11105410_11105427delCA2695238662LDLRc.762_779del (p.Asp254_Cys259del)
c.504_521del (p.Asp168_Cys173del)
c.758_775del
c.314-1982_314-1965del (n.314-1982_314-1965del)
c.381_398del (p.Asp127_Cys132del)
c.314-1155_314-1138del (n.314-1155_314-1138del)
c.104_121del
n.654_671del
n.621_638del
19g.11105408G>ACA023709LDLRc.760G>A (p.Asp254Asn)
c.502G>A (p.Asp168Asn)
c.756G>A
c.314-1984G>A (n.314-1984G>A)
c.379G>A (p.Asp127Asn)
c.314-1157G>A (n.314-1157G>A)
c.102G>A
n.652G>A
n.619G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105408G>CCA10584950LDLRc.760G>C (p.Asp254His)
c.502G>C (p.Asp168His)
c.756G>C
c.314-1984G>C (n.314-1984G>C)
c.379G>C (p.Asp127His)
c.314-1157G>C (n.314-1157G>C)
c.102G>C
n.652G>C
n.619G>C
 ClinVar dbSNP gnomAD v4
19g.11105408G=CA2322767436LDLRc.760G= (p.Asp254=)
c.502G= (p.Asp168=)
c.756G=
c.314-1984G= (n.314-1984G=)
c.379G= (p.Asp127=)
c.314-1157G= (n.314-1157G=)
c.102G=
n.652G=
n.619G=
19g.11105408G>TCA10584951LDLRc.760G>T (p.Asp254Tyr)
c.502G>T (p.Asp168Tyr)
c.756G>T
c.314-1984G>T (n.314-1984G>T)
c.379G>T (p.Asp127Tyr)
c.314-1157G>T (n.314-1157G>T)
c.102G>T
n.652G>T
n.619G>T
 ClinVar dbSNP
19g.11105409A=CA2322767437LDLRc.761A= (p.Asp254=)
c.503A= (p.Asp168=)
c.757A=
c.314-1983A= (n.314-1983A=)
c.380A= (p.Asp127=)
c.314-1156A= (n.314-1156A=)
c.103A=
n.653A=
n.620A=
19g.11105409A>CCA16602301LDLRc.761A>C (p.Asp254Ala)
c.503A>C (p.Asp168Ala)
c.757A>C
c.314-1983A>C (n.314-1983A>C)
c.380A>C (p.Asp127Ala)
c.314-1156A>C (n.314-1156A>C)
c.103A>C
n.653A>C
n.620A>C
 ClinVar dbSNP
19g.11105409A>GCA10584952LDLRc.761A>G (p.Asp254Gly)
c.503A>G (p.Asp168Gly)
c.757A>G
c.314-1983A>G (n.314-1983A>G)
c.380A>G (p.Asp127Gly)
c.314-1156A>G (n.314-1156A>G)
c.103A>G
n.653A>G
n.620A>G
 ClinVar dbSNP
19g.11105409A>TCA404076860LDLRc.761A>T (p.Asp254Val)
c.503A>T (p.Asp168Val)
c.757A>T
c.314-1983A>T (n.314-1983A>T)
c.380A>T (p.Asp127Val)
c.314-1156A>T (n.314-1156A>T)
c.103A>T
n.653A>T
n.620A>T
19g.11105409_11105416delinsACAACGACCA2322767438LDLRc.761_768delinsACAACGAC (p.Asp254=)
c.503_510delinsACAACGAC (p.Asp168=)
c.757_764delinsACAACGAC
c.314-1983_314-1976delinsACAACGAC (n.314-1983_314-1976delinsACAACGAC)
c.380_387delinsACAACGAC (p.Asp127=)
c.314-1156_314-1149delinsACAACGAC (n.314-1156_314-1149delinsACAACGAC)
c.103_110delinsACAACGAC
n.653_660delinsACAACGAC
n.620_627delinsACAACGAC
19g.11105410C>ACA043750LDLRc.762C>A (p.Asp254Glu)
c.504C>A (p.Asp168Glu)
c.758C>A
c.314-1982C>A (n.314-1982C>A)
c.381C>A (p.Asp127Glu)
c.314-1155C>A (n.314-1155C>A)
c.104C>A
n.654C>A
n.621C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105410C=CA2322767439LDLRc.762C= (p.Asp254=)
c.504C= (p.Asp168=)
c.758C=
c.314-1982C= (n.314-1982C=)
c.381C= (p.Asp127=)
c.314-1155C= (n.314-1155C=)
c.104C=
n.654C=
n.621C=
19g.11105410C>GCA404076865LDLRc.762C>G (p.Asp254Glu)
c.504C>G (p.Asp168Glu)
c.758C>G
c.314-1982C>G (n.314-1982C>G)
c.381C>G (p.Asp127Glu)
c.314-1155C>G (n.314-1155C>G)
c.104C>G
n.654C>G
n.621C>G
19g.11105410C>TCA505743193LDLRc.762C>T (p.Asp254=)
c.504C>T (p.Asp168=)
c.758C>T
c.314-1982C>T (n.314-1982C>T)
c.381C>T (p.Asp127=)
c.314-1155C>T (n.314-1155C>T)
c.104C>T
n.654C>T
n.621C>T
 ClinVar dbSNP
19g.11105411_11105417delCA913188993LDLRc.763_769del (p.Asn255ProfsTer?)
c.505_511del (p.Asn169ProfsTer?)
c.759_765del
c.314-1981_314-1975del (n.314-1981_314-1975del)
c.382_388del (p.Asn128ProfsTer?)
c.314-1154_314-1148del (n.314-1154_314-1148del)
c.105_111del
n.655_661del
n.622_628del
 ClinVar dbSNP
19g.11105411A=CA2322767440LDLRc.763A= (p.Asn255=)
c.505A= (p.Asn169=)
c.759A=
c.314-1981A= (n.314-1981A=)
c.382A= (p.Asn128=)
c.314-1154A= (n.314-1154A=)
c.105A=
n.655A=
n.622A=
19g.11105411A>CCA404076878LDLRc.763A>C (p.Asn255His)
c.505A>C (p.Asn169His)
c.759A>C
c.314-1981A>C (n.314-1981A>C)
c.382A>C (p.Asn128His)
c.314-1154A>C (n.314-1154A>C)
c.105A>C
n.655A>C
n.622A>C
 COSMIC
19g.11105411A>GCA404076874LDLRc.763A>G (p.Asn255Asp)
c.505A>G (p.Asn169Asp)
c.759A>G
c.314-1981A>G (n.314-1981A>G)
c.382A>G (p.Asn128Asp)
c.314-1154A>G (n.314-1154A>G)
c.105A>G
n.655A>G
n.622A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105411A>TCA404076870LDLRc.763A>T (p.Asn255Tyr)
c.505A>T (p.Asn169Tyr)
c.759A>T
c.314-1981A>T (n.314-1981A>T)
c.382A>T (p.Asn128Tyr)
c.314-1154A>T (n.314-1154A>T)
c.105A>T
n.655A>T
n.622A>T
 gnomAD v4
19g.11105412A=CA2322767441LDLRc.764A= (p.Asn255=)
c.506A= (p.Asn169=)
c.760A=
c.314-1980A= (n.314-1980A=)
c.383A= (p.Asn128=)
c.314-1153A= (n.314-1153A=)
c.106A=
n.656A=
n.623A=
19g.11105412A>CCA404076881LDLRc.764A>C (p.Asn255Thr)
c.506A>C (p.Asn169Thr)
c.760A>C
c.314-1980A>C (n.314-1980A>C)
c.383A>C (p.Asn128Thr)
c.314-1153A>C (n.314-1153A>C)
c.106A>C
n.656A>C
n.623A>C
19g.11105412A>GCA404076882LDLRc.764A>G (p.Asn255Ser)
c.506A>G (p.Asn169Ser)
c.760A>G
c.314-1980A>G (n.314-1980A>G)
c.383A>G (p.Asn128Ser)
c.314-1153A>G (n.314-1153A>G)
c.106A>G
n.656A>G
n.623A>G
 COSMIC
19g.11105412A>TCA10584953LDLRc.764A>T (p.Asn255Ile)
c.506A>T (p.Asn169Ile)
c.760A>T
c.314-1980A>T (n.314-1980A>T)
c.383A>T (p.Asn128Ile)
c.314-1153A>T (n.314-1153A>T)
c.106A>T
n.656A>T
n.623A>T
 ClinVar dbSNP
19g.11105414_11105416delCA2580096447LDLRc.766_768del (p.Asp256del)
c.508_510del (p.Asp170del)
c.762_764del
c.314-1978_314-1976del (n.314-1978_314-1976del)
c.385_387del (p.Asp129del)
c.314-1151_314-1149del (n.314-1151_314-1149del)
c.108_110del
n.658_660del
n.625_627del
 ClinVar
19g.11105413C>ACA404076884LDLRc.765C>A (p.Asn255Lys)
c.507C>A (p.Asn169Lys)
c.761C>A
c.314-1979C>A (n.314-1979C>A)
c.384C>A (p.Asn128Lys)
c.314-1152C>A (n.314-1152C>A)
c.107C>A
n.657C>A
n.624C>A
19g.11105413C=CA2322767442LDLRc.765C= (p.Asn255=)
c.507C= (p.Asn169=)
c.761C=
c.314-1979C= (n.314-1979C=)
c.384C= (p.Asn128=)
c.314-1152C= (n.314-1152C=)
c.107C=
n.657C=
n.624C=
19g.11105413C>GCA404076887LDLRc.765C>G (p.Asn255Lys)
c.507C>G (p.Asn169Lys)
c.761C>G
c.314-1979C>G (n.314-1979C>G)
c.384C>G (p.Asn128Lys)
c.314-1152C>G (n.314-1152C>G)
c.107C>G
n.657C>G
n.624C>G
19g.11105413C>TCA023711LDLRc.765C>T (p.Asn255=)
c.507C>T (p.Asn169=)
c.761C>T
c.314-1979C>T (n.314-1979C>T)
c.384C>T (p.Asn128=)
c.314-1152C>T (n.314-1152C>T)
c.107C>T
n.657C>T
n.624C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105414G>ACA043768LDLRc.766G>A (p.Asp256Asn)
c.508G>A (p.Asp170Asn)
c.762G>A
c.314-1978G>A (n.314-1978G>A)
c.385G>A (p.Asp129Asn)
c.314-1151G>A (n.314-1151G>A)
c.108G>A
n.658G>A
n.625G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105414G>CCA404076898LDLRc.766G>C (p.Asp256His)
c.508G>C (p.Asp170His)
c.762G>C
c.314-1978G>C (n.314-1978G>C)
c.385G>C (p.Asp129His)
c.314-1151G>C (n.314-1151G>C)
c.108G>C
n.658G>C
n.625G>C
19g.11105414G=CA2322767443LDLRc.766G= (p.Asp256=)
c.508G= (p.Asp170=)
c.762G=
c.314-1978G= (n.314-1978G=)
c.385G= (p.Asp129=)
c.314-1151G= (n.314-1151G=)
c.108G=
n.658G=
n.625G=

Number of alleles fetched