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.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.11105314delCA2695223196LDLRc.666del (p.Asp222GlufsTer?)
c.408del (p.Asp136GlufsTer?)
c.662del
c.314-2078del (n.314-2078del)
c.285del (p.Asp95GlufsTer?)
c.314-1251del (n.314-1251del)
c.8del
n.558del
n.525del
19g.11105314C>ACA404076372LDLRc.666C>A (p.Asp222Glu)
c.408C>A (p.Asp136Glu)
c.662C>A
c.314-2078C>A (n.314-2078C>A)
c.285C>A (p.Asp95Glu)
c.314-1251C>A (n.314-1251C>A)
c.8C>A
n.558C>A
n.525C>A
19g.11105314C=CA2322767359LDLRc.666C= (p.Asp222=)
c.408C= (p.Asp136=)
c.662C=
c.314-2078C= (n.314-2078C=)
c.285C= (p.Asp95=)
c.314-1251C= (n.314-1251C=)
c.8C=
n.558C=
n.525C=
19g.11105314C>GCA404076373LDLRc.666C>G (p.Asp222Glu)
c.408C>G (p.Asp136Glu)
c.662C>G
c.314-2078C>G (n.314-2078C>G)
c.285C>G (p.Asp95Glu)
c.314-1251C>G (n.314-1251C>G)
c.8C>G
n.558C>G
n.525C>G
 gnomAD v4
19g.11105314C>TCA043421LDLRc.666C>T (p.Asp222=)
c.408C>T (p.Asp136=)
c.662C>T
c.314-2078C>T (n.314-2078C>T)
c.285C>T (p.Asp95=)
c.314-1251C>T (n.314-1251C>T)
c.8C>T
n.558C>T
n.525C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105315G>ACA023703LDLRc.667G>A (p.Gly223Ser)
c.409G>A (p.Gly137Ser)
c.663G>A
c.314-2077G>A (n.314-2077G>A)
c.286G>A (p.Gly96Ser)
c.314-1250G>A (n.314-1250G>A)
c.9G>A
n.559G>A
n.526G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105315G>CCA404076374LDLRc.667G>C (p.Gly223Arg)
c.409G>C (p.Gly137Arg)
c.663G>C
c.314-2077G>C (n.314-2077G>C)
c.286G>C (p.Gly96Arg)
c.314-1250G>C (n.314-1250G>C)
c.9G>C
n.559G>C
n.526G>C
19g.11105315G=CA2322767360LDLRc.667G= (p.Gly223=)
c.409G= (p.Gly137=)
c.663G=
c.314-2077G= (n.314-2077G=)
c.286G= (p.Gly96=)
c.314-1250G= (n.314-1250G=)
c.9G=
n.559G=
n.526G=
19g.11105315G>TCA10584906LDLRc.667G>T (p.Gly223Cys)
c.409G>T (p.Gly137Cys)
c.663G>T
c.314-2077G>T (n.314-2077G>T)
c.286G>T (p.Gly96Cys)
c.314-1250G>T (n.314-1250G>T)
c.9G>T
n.559G>T
n.526G>T
 ClinVar dbSNP gnomAD v4
19g.11105316G>ACA404076375LDLRc.668G>A (p.Gly223Asp)
c.410G>A (p.Gly137Asp)
c.664G>A
c.314-2076G>A (n.314-2076G>A)
c.287G>A (p.Gly96Asp)
c.314-1249G>A (n.314-1249G>A)
c.10G>A
n.560G>A
n.527G>A
 gnomAD v4
19g.11105316G>CCA404076376LDLRc.668G>C (p.Gly223Ala)
c.410G>C (p.Gly137Ala)
c.664G>C
c.314-2076G>C (n.314-2076G>C)
c.287G>C (p.Gly96Ala)
c.314-1249G>C (n.314-1249G>C)
c.10G>C
n.560G>C
n.527G>C
19g.11105316G=CA2322767361LDLRc.668G= (p.Gly223=)
c.410G= (p.Gly137=)
c.664G=
c.314-2076G= (n.314-2076G=)
c.287G= (p.Gly96=)
c.314-1249G= (n.314-1249G=)
c.10G=
n.560G=
n.527G=
19g.11105316G>TCA023705LDLRc.668G>T (p.Gly223Val)
c.410G>T (p.Gly137Val)
c.664G>T
c.314-2076G>T (n.314-2076G>T)
c.287G>T (p.Gly96Val)
c.314-1249G>T (n.314-1249G>T)
c.10G>T
n.560G>T
n.527G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105317C>ACA505742209LDLRc.669C>A (p.Gly223=)
c.411C>A (p.Gly137=)
c.665C>A
c.314-2075C>A (n.314-2075C>A)
c.288C>A (p.Gly96=)
c.314-1248C>A (n.314-1248C>A)
c.11C>A
n.561C>A
n.528C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11105317C=CA2322767362LDLRc.669C= (p.Gly223=)
c.411C= (p.Gly137=)
c.665C=
c.314-2075C= (n.314-2075C=)
c.288C= (p.Gly96=)
c.314-1248C= (n.314-1248C=)
c.11C=
n.561C=
n.528C=
19g.11105317C>GCA505742210LDLRc.669C>G (p.Gly223=)
c.411C>G (p.Gly137=)
c.665C>G
c.314-2075C>G (n.314-2075C>G)
c.288C>G (p.Gly96=)
c.314-1248C>G (n.314-1248C>G)
c.11C>G
n.561C>G
n.528C>G
19g.11105317C>TCA505742211LDLRc.669C>T (p.Gly223=)
c.411C>T (p.Gly137=)
c.665C>T
c.314-2075C>T (n.314-2075C>T)
c.288C>T (p.Gly96=)
c.314-1248C>T (n.314-1248C>T)
c.11C>T
n.561C>T
n.528C>T
19g.11105318T>ACA404076377LDLRc.670T>A (p.Ser224Thr)
c.412T>A (p.Ser138Thr)
c.666T>A
c.314-2074T>A (n.314-2074T>A)
c.289T>A (p.Ser97Thr)
c.314-1247T>A (n.314-1247T>A)
c.12T>A
n.562T>A
n.529T>A
19g.11105318T>CCA404076378LDLRc.670T>C (p.Ser224Pro)
c.412T>C (p.Ser138Pro)
c.666T>C
c.314-2074T>C (n.314-2074T>C)
c.289T>C (p.Ser97Pro)
c.314-1247T>C (n.314-1247T>C)
c.12T>C
n.562T>C
n.529T>C
19g.11105318T>GCA404076379LDLRc.670T>G (p.Ser224Ala)
c.412T>G (p.Ser138Ala)
c.666T>G
c.314-2074T>G (n.314-2074T>G)
c.289T>G (p.Ser97Ala)
c.314-1247T>G (n.314-1247T>G)
c.12T>G
n.562T>G
n.529T>G
 gnomAD v4
19g.11105319C>ACA404076380LDLRc.671C>A (p.Ser224Ter)
c.413C>A (p.Ser138Ter)
c.667C>A
c.314-2073C>A (n.314-2073C>A)
c.290C>A (p.Ser97Ter)
c.314-1246C>A (n.314-1246C>A)
c.13C>A
n.563C>A
n.530C>A
 ClinVar dbSNP
19g.11105319C=CA2322767363LDLRc.671C= (p.Ser224=)
c.413C= (p.Ser138=)
c.667C=
c.314-2073C= (n.314-2073C=)
c.290C= (p.Ser97=)
c.314-1246C= (n.314-1246C=)
c.13C=
n.563C=
n.530C=
19g.11105319C>GCA043464LDLRc.671C>G (p.Ser224Ter)
c.413C>G (p.Ser138Ter)
c.667C>G
c.314-2073C>G (n.314-2073C>G)
c.290C>G (p.Ser97Ter)
c.314-1246C>G (n.314-1246C>G)
c.13C>G
n.563C>G
n.530C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105319C>TCA404076381LDLRc.671C>T (p.Ser224Leu)
c.413C>T (p.Ser138Leu)
c.667C>T
c.314-2073C>T (n.314-2073C>T)
c.290C>T (p.Ser97Leu)
c.314-1246C>T (n.314-1246C>T)
c.13C>T
n.563C>T
n.530C>T
 ClinVar gnomAD v4
19g.11105320_11105323delCA2582473459LDLRc.672_675del (p.Asp225ArgfsTer?)
c.414_417del (p.Asp139ArgfsTer?)
c.668_671del
c.314-2072_314-2069del (n.314-2072_314-2069del)
c.291_294del (p.Asp98ArgfsTer?)
c.314-1245_314-1242del (n.314-1245_314-1242del)
c.14_17del
n.564_567del
n.531_534del
 gnomAD v4
19g.11105320A>CCA505742212LDLRc.672A>C (p.Ser224=)
c.414A>C (p.Ser138=)
c.668A>C
c.314-2072A>C (n.314-2072A>C)
c.291A>C (p.Ser97=)
c.314-1245A>C (n.314-1245A>C)
c.14A>C
n.564A>C
n.531A>C
19g.11105320A>GCA505742213LDLRc.672A>G (p.Ser224=)
c.414A>G (p.Ser138=)
c.668A>G
c.314-2072A>G (n.314-2072A>G)
c.291A>G (p.Ser97=)
c.314-1245A>G (n.314-1245A>G)
c.14A>G
n.564A>G
n.531A>G
19g.11105320A>TCA505742214LDLRc.672A>T (p.Ser224=)
c.414A>T (p.Ser138=)
c.668A>T
c.314-2072A>T (n.314-2072A>T)
c.291A>T (p.Ser97=)
c.314-1245A>T (n.314-1245A>T)
c.14A>T
n.564A>T
n.531A>T
19g.11105321_11105322delCA2580096435LDLRc.673_674del (p.Asp225ArgfsTer?)
c.415_416del (p.Asp139ArgfsTer?)
c.669_670del
c.314-2071_314-2070del (n.314-2071_314-2070del)
c.292_293del (p.Asp98ArgfsTer?)
c.314-1244_314-1243del (n.314-1244_314-1243del)
c.15_16del
n.565_566del
n.532_533del
 ClinVar
19g.11105321G>ACA10584907LDLRc.673G>A (p.Asp225Asn)
c.415G>A (p.Asp139Asn)
c.669G>A
c.314-2071G>A (n.314-2071G>A)
c.292G>A (p.Asp98Asn)
c.314-1244G>A (n.314-1244G>A)
c.15G>A
n.565G>A
n.532G>A
 ClinVar dbSNP gnomAD v4
19g.11105321G>CCA10584908LDLRc.673G>C (p.Asp225His)
c.415G>C (p.Asp139His)
c.669G>C
c.314-2071G>C (n.314-2071G>C)
c.292G>C (p.Asp98His)
c.314-1244G>C (n.314-1244G>C)
c.15G>C
n.565G>C
n.532G>C
 ClinVar dbSNP COSMIC
19g.11105321G=CA2322767364LDLRc.673G= (p.Asp225=)
c.415G= (p.Asp139=)
c.669G=
c.314-2071G= (n.314-2071G=)
c.292G= (p.Asp98=)
c.314-1244G= (n.314-1244G=)
c.15G=
n.565G=
n.532G=
19g.11105321G>TCA404076382LDLRc.673G>T (p.Asp225Tyr)
c.415G>T (p.Asp139Tyr)
c.669G>T
c.314-2071G>T (n.314-2071G>T)
c.292G>T (p.Asp98Tyr)
c.314-1244G>T (n.314-1244G>T)
c.15G>T
n.565G>T
n.532G>T
19g.11105322A=CA2322767365LDLRc.674A= (p.Asp225=)
c.416A= (p.Asp139=)
c.670A=
c.314-2070A= (n.314-2070A=)
c.293A= (p.Asp98=)
c.314-1243A= (n.314-1243A=)
c.16A=
n.566A=
n.533A=
19g.11105322A>CCA404076383LDLRc.674A>C (p.Asp225Ala)
c.416A>C (p.Asp139Ala)
c.670A>C
c.314-2070A>C (n.314-2070A>C)
c.293A>C (p.Asp98Ala)
c.314-1243A>C (n.314-1243A>C)
c.16A>C
n.566A>C
n.533A>C

Number of alleles fetched