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.11105300_11105323delCA2573050569LDLRc.652_675del (p.Arg218_Asp225del)
c.394_417del (p.Arg132_Asp139del)
c.648_671del
c.314-2092_314-2069del (n.314-2092_314-2069del)
c.271_294del (p.Arg91_Asp98del)
c.314-1265_314-1242del (n.314-1265_314-1242del)
n.544_567del
n.511_534del
19g.11105305C>ACA404076354LDLRc.657C>A (p.Asp219Glu)
c.399C>A (p.Asp133Glu)
c.653C>A
c.314-2087C>A (n.314-2087C>A)
c.276C>A (p.Asp92Glu)
c.314-1260C>A (n.314-1260C>A)
n.549C>A
n.516C>A
19g.11105305C=CA2322767351LDLRc.657C= (p.Asp219=)
c.399C= (p.Asp133=)
c.653C=
c.314-2087C= (n.314-2087C=)
c.276C= (p.Asp92=)
c.314-1260C= (n.314-1260C=)
n.549C=
n.516C=
19g.11105305C>GCA404076355LDLRc.657C>G (p.Asp219Glu)
c.399C>G (p.Asp133Glu)
c.653C>G
c.314-2087C>G (n.314-2087C>G)
c.276C>G (p.Asp92Glu)
c.314-1260C>G (n.314-1260C>G)
n.549C>G
n.516C>G
19g.11105305C>TCA505742204LDLRc.657C>T (p.Asp219=)
c.399C>T (p.Asp133=)
c.653C>T
c.314-2087C>T (n.314-2087C>T)
c.276C>T (p.Asp92=)
c.314-1260C>T (n.314-1260C>T)
n.549C>T
n.516C>T
 ClinVar dbSNP gnomAD v4
19g.11105306T>ACA404076356LDLRc.658T>A (p.Cys220Ser)
c.400T>A (p.Cys134Ser)
c.654T>A
c.314-2086T>A (n.314-2086T>A)
c.277T>A (p.Cys93Ser)
c.314-1259T>A (n.314-1259T>A)
n.550T>A
n.517T>A
 ClinVar
19g.11105306T>CCA10576281LDLRc.658T>C (p.Cys220Arg)
c.400T>C (p.Cys134Arg)
c.654T>C
c.314-2086T>C (n.314-2086T>C)
c.277T>C (p.Cys93Arg)
c.314-1259T>C (n.314-1259T>C)
n.550T>C
n.517T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105306T>GCA404076357LDLRc.658T>G (p.Cys220Gly)
c.400T>G (p.Cys134Gly)
c.654T>G
c.314-2086T>G (n.314-2086T>G)
c.277T>G (p.Cys93Gly)
c.314-1259T>G (n.314-1259T>G)
n.550T>G
n.517T>G
 ClinVar dbSNP
19g.11105306T=CA2322767352LDLRc.658T= (p.Cys220=)
c.400T= (p.Cys134=)
c.654T=
c.314-2086T= (n.314-2086T=)
c.277T= (p.Cys93=)
c.314-1259T= (n.314-1259T=)
n.550T=
n.517T=
19g.11105307G>ACA10584902LDLRc.659G>A (p.Cys220Tyr)
c.401G>A (p.Cys134Tyr)
c.655G>A
c.314-2085G>A (n.314-2085G>A)
c.278G>A (p.Cys93Tyr)
c.314-1258G>A (n.314-1258G>A)
c.1G>A
n.551G>A
n.518G>A
 ClinVar dbSNP
19g.11105307G>CCA404076358LDLRc.659G>C (p.Cys220Ser)
c.401G>C (p.Cys134Ser)
c.655G>C
c.314-2085G>C (n.314-2085G>C)
c.278G>C (p.Cys93Ser)
c.314-1258G>C (n.314-1258G>C)
c.1G>C
n.551G>C
n.518G>C
 ClinVar dbSNP
19g.11105307G=CA2322767353LDLRc.659G= (p.Cys220=)
c.401G= (p.Cys134=)
c.655G=
c.314-2085G= (n.314-2085G=)
c.278G= (p.Cys93=)
c.314-1258G= (n.314-1258G=)
c.1G=
n.551G=
n.518G=
19g.11105307G>TCA10584903LDLRc.659G>T (p.Cys220Phe)
c.401G>T (p.Cys134Phe)
c.655G>T
c.314-2085G>T (n.314-2085G>T)
c.278G>T (p.Cys93Phe)
c.314-1258G>T (n.314-1258G>T)
c.1G>T
n.551G>T
n.518G>T
 ClinVar dbSNP
19g.11105308C>ACA404076359LDLRc.660C>A (p.Cys220Ter)
c.402C>A (p.Cys134Ter)
c.656C>A
c.314-2084C>A (n.314-2084C>A)
c.279C>A (p.Cys93Ter)
c.314-1257C>A (n.314-1257C>A)
c.2C>A
n.552C>A
n.519C>A
19g.11105308C=CA2322767354LDLRc.660C= (p.Cys220=)
c.402C= (p.Cys134=)
c.656C=
c.314-2084C= (n.314-2084C=)
c.279C= (p.Cys93=)
c.314-1257C= (n.314-1257C=)
c.2C=
n.552C=
n.519C=
19g.11105308C>GCA10584904LDLRc.660C>G (p.Cys220Trp)
c.402C>G (p.Cys134Trp)
c.656C>G
c.314-2084C>G (n.314-2084C>G)
c.279C>G (p.Cys93Trp)
c.314-1257C>G (n.314-1257C>G)
c.2C>G
n.552C>G
n.519C>G
 ClinVar dbSNP
19g.11105308C>TCA505742205LDLRc.660C>T (p.Cys220=)
c.402C>T (p.Cys134=)
c.656C>T
c.314-2084C>T (n.314-2084C>T)
c.279C>T (p.Cys93=)
c.314-1257C>T (n.314-1257C>T)
c.2C>T
n.552C>T
n.519C>T
 ClinVar dbSNP gnomAD v4
19g.11105309T>ACA404076361LDLRc.661T>A (p.Leu221Met)
c.403T>A (p.Leu135Met)
c.657T>A
c.314-2083T>A (n.314-2083T>A)
c.280T>A (p.Leu94Met)
c.314-1256T>A (n.314-1256T>A)
c.3T>A
n.553T>A
n.520T>A
19g.11105309T>CCA505742206LDLRc.661T>C (p.Leu221=)
c.403T>C (p.Leu135=)
c.657T>C
c.314-2083T>C (n.314-2083T>C)
c.280T>C (p.Leu94=)
c.314-1256T>C (n.314-1256T>C)
c.3T>C
n.553T>C
n.520T>C
 ClinVar
19g.11105309T>GCA404076360LDLRc.661T>G (p.Leu221Val)
c.403T>G (p.Leu135Val)
c.657T>G
c.314-2083T>G (n.314-2083T>G)
c.280T>G (p.Leu94Val)
c.314-1256T>G (n.314-1256T>G)
c.3T>G
n.553T>G
n.520T>G
 gnomAD v4
19g.11105310dupCA632115394LDLRc.662dup (p.Leu221PhefsTer?)
c.404dup (p.Leu135PhefsTer?)
c.658dup
c.314-2082dup (n.314-2082dup)
c.281dup (p.Leu94PhefsTer?)
c.314-1255dup (n.314-1255dup)
c.4dup
n.554dup
n.521dup
 dbSNP gnomAD v2 gnomAD v4
19g.11105310T>ACA404076362LDLRc.662T>A (p.Leu221Ter)
c.404T>A (p.Leu135Ter)
c.658T>A
c.314-2082T>A (n.314-2082T>A)
c.281T>A (p.Leu94Ter)
c.314-1255T>A (n.314-1255T>A)
c.4T>A
n.554T>A
n.521T>A
19g.11105310T>CCA404076363LDLRc.662T>C (p.Leu221Ser)
c.404T>C (p.Leu135Ser)
c.658T>C
c.314-2082T>C (n.314-2082T>C)
c.281T>C (p.Leu94Ser)
c.314-1255T>C (n.314-1255T>C)
c.4T>C
n.554T>C
n.521T>C
19g.11105310T>GCA404076364LDLRc.662T>G (p.Leu221Trp)
c.404T>G (p.Leu135Trp)
c.658T>G
c.314-2082T>G (n.314-2082T>G)
c.281T>G (p.Leu94Trp)
c.314-1255T>G (n.314-1255T>G)
c.4T>G
n.554T>G
n.521T>G
 dbSNP
19g.11105310T=CA2322767355LDLRc.662T= (p.Leu221=)
c.404T= (p.Leu135=)
c.658T=
c.314-2082T= (n.314-2082T=)
c.281T= (p.Leu94=)
c.314-1255T= (n.314-1255T=)
c.4T=
n.554T=
n.521T=
19g.11105311G>ACA505742207LDLRc.663G>A (p.Leu221=)
c.405G>A (p.Leu135=)
c.659G>A
c.314-2081G>A (n.314-2081G>A)
c.282G>A (p.Leu94=)
c.314-1254G>A (n.314-1254G>A)
c.5G>A
n.555G>A
n.522G>A
19g.11105311G>CCA404076365LDLRc.663G>C (p.Leu221Phe)
c.405G>C (p.Leu135Phe)
c.659G>C
c.314-2081G>C (n.314-2081G>C)
c.282G>C (p.Leu94Phe)
c.314-1254G>C (n.314-1254G>C)
c.5G>C
n.555G>C
n.522G>C
 dbSNP
19g.11105311G=CA2322767356LDLRc.663G= (p.Leu221=)
c.405G= (p.Leu135=)
c.659G=
c.314-2081G= (n.314-2081G=)
c.282G= (p.Leu94=)
c.314-1254G= (n.314-1254G=)
c.5G=
n.555G=
n.522G=
19g.11105311G>TCA404076366LDLRc.663G>T (p.Leu221Phe)
c.405G>T (p.Leu135Phe)
c.659G>T
c.314-2081G>T (n.314-2081G>T)
c.282G>T (p.Leu94Phe)
c.314-1254G>T (n.314-1254G>T)
c.5G>T
n.555G>T
n.522G>T
19g.11105313_11105316dupCA2695238677LDLRc.665_668dup (p.Ser224ArgfsTer?)
c.407_410dup (p.Ser138ArgfsTer?)
c.661_664dup
c.314-2079_314-2076dup (n.314-2079_314-2076dup)
c.284_287dup (p.Ser97ArgfsTer?)
c.314-1252_314-1249dup (n.314-1252_314-1249dup)
c.7_10dup
n.557_560dup
n.524_527dup
19g.11105312G>ACA404076369LDLRc.664G>A (p.Asp222Asn)
c.406G>A (p.Asp136Asn)
c.660G>A
c.314-2080G>A (n.314-2080G>A)
c.283G>A (p.Asp95Asn)
c.314-1253G>A (n.314-1253G>A)
c.6G>A
n.556G>A
n.523G>A
 ClinVar dbSNP gnomAD v4
19g.11105312G>CCA404076368LDLRc.664G>C (p.Asp222His)
c.406G>C (p.Asp136His)
c.660G>C
c.314-2080G>C (n.314-2080G>C)
c.283G>C (p.Asp95His)
c.314-1253G>C (n.314-1253G>C)
c.6G>C
n.556G>C
n.523G>C
19g.11105312G=CA2322767357LDLRc.664G= (p.Asp222=)
c.406G= (p.Asp136=)
c.660G=
c.314-2080G= (n.314-2080G=)
c.283G= (p.Asp95=)
c.314-1253G= (n.314-1253G=)
c.6G=
n.556G=
n.523G=
19g.11105312G>TCA404076367LDLRc.664G>T (p.Asp222Tyr)
c.406G>T (p.Asp136Tyr)
c.660G>T
c.314-2080G>T (n.314-2080G>T)
c.283G>T (p.Asp95Tyr)
c.314-1253G>T (n.314-1253G>T)
c.6G>T
n.556G>T
n.523G>T
19g.11105313A=CA2322767358LDLRc.665A= (p.Asp222=)
c.407A= (p.Asp136=)
c.661A=
c.314-2079A= (n.314-2079A=)
c.284A= (p.Asp95=)
c.314-1252A= (n.314-1252A=)
c.7A=
n.557A=
n.524A=
19g.11105313A>CCA404076370LDLRc.665A>C (p.Asp222Ala)
c.407A>C (p.Asp136Ala)
c.661A>C
c.314-2079A>C (n.314-2079A>C)
c.284A>C (p.Asp95Ala)
c.314-1252A>C (n.314-1252A>C)
c.7A>C
n.557A>C
n.524A>C
19g.11105313A>GCA404076371LDLRc.665A>G (p.Asp222Gly)
c.407A>G (p.Asp136Gly)
c.661A>G
c.314-2079A>G (n.314-2079A>G)
c.284A>G (p.Asp95Gly)
c.314-1252A>G (n.314-1252A>G)
c.7A>G
n.557A>G
n.524A>G

Number of alleles fetched