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.11105325A=CA2322767368LDLRc.677A= (p.Glu226=)
c.419A= (p.Glu140=)
c.673A=
c.314-2067A= (n.314-2067A=)
c.296A= (p.Glu99=)
c.314-1240A= (n.314-1240A=)
c.19A=
n.569A=
n.536A=
19g.11105325A>CCA404076386LDLRc.677A>C (p.Glu226Ala)
c.419A>C (p.Glu140Ala)
c.673A>C
c.314-2067A>C (n.314-2067A>C)
c.296A>C (p.Glu99Ala)
c.314-1240A>C (n.314-1240A>C)
c.19A>C
n.569A>C
n.536A>C
19g.11105325A>GCA10584912LDLRc.677A>G (p.Glu226Gly)
c.419A>G (p.Glu140Gly)
c.673A>G
c.314-2067A>G (n.314-2067A>G)
c.296A>G (p.Glu99Gly)
c.314-1240A>G (n.314-1240A>G)
c.19A>G
n.569A>G
n.536A>G
 ClinVar dbSNP gnomAD v4
19g.11105325A>TCA404076387LDLRc.677A>T (p.Glu226Val)
c.419A>T (p.Glu140Val)
c.673A>T
c.314-2067A>T (n.314-2067A>T)
c.296A>T (p.Glu99Val)
c.314-1240A>T (n.314-1240A>T)
c.19A>T
n.569A>T
n.536A>T
19g.11105326G>ACA505742216LDLRc.678G>A (p.Glu226=)
c.420G>A (p.Glu140=)
c.674G>A
c.314-2066G>A (n.314-2066G>A)
c.297G>A (p.Glu99=)
c.314-1239G>A (n.314-1239G>A)
c.20G>A
n.570G>A
n.537G>A
 gnomAD v4
19g.11105326G>CCA10584913LDLRc.678G>C (p.Glu226Asp)
c.420G>C (p.Glu140Asp)
c.674G>C
c.314-2066G>C (n.314-2066G>C)
c.297G>C (p.Glu99Asp)
c.314-1239G>C (n.314-1239G>C)
c.20G>C
n.570G>C
n.537G>C
 ClinVar dbSNP
19g.11105326G=CA2322767369LDLRc.678G= (p.Glu226=)
c.420G= (p.Glu140=)
c.674G=
c.314-2066G= (n.314-2066G=)
c.297G= (p.Glu99=)
c.314-1239G= (n.314-1239G=)
c.20G=
n.570G=
n.537G=
19g.11105326G>TCA10584914LDLRc.678G>T (p.Glu226Asp)
c.420G>T (p.Glu140Asp)
c.674G>T
c.314-2066G>T (n.314-2066G>T)
c.297G>T (p.Glu99Asp)
c.314-1239G>T (n.314-1239G>T)
c.20G>T
n.570G>T
n.537G>T
 ClinVar dbSNP
19g.11105326_11105333delinsGGCCTCCTCA2322767370LDLRc.678_685delinsGGCCTCCT (p.Glu226=)
c.420_427delinsGGCCTCCT (p.Glu140=)
c.674_681delinsGGCCTCCT
c.314-2066_314-2059delinsGGCCTCCT (n.314-2066_314-2059delinsGGCCTCCT)
c.297_304delinsGGCCTCCT (p.Glu99=)
c.314-1239_314-1232delinsGGCCTCCT (n.314-1239_314-1232delinsGGCCTCCT)
c.20_27delinsGGCCTCCT
n.570_577delinsGGCCTCCT
n.537_544delinsGGCCTCCT
19g.11105327G>ACA404076391LDLRc.679G>A (p.Ala227Thr)
c.421G>A (p.Ala141Thr)
c.675G>A
c.314-2065G>A (n.314-2065G>A)
c.298G>A (p.Ala100Thr)
c.314-1238G>A (n.314-1238G>A)
c.21G>A
n.571G>A
n.538G>A
 dbSNP
19g.11105327G>CCA404076393LDLRc.679G>C (p.Ala227Pro)
c.421G>C (p.Ala141Pro)
c.675G>C
c.314-2065G>C (n.314-2065G>C)
c.298G>C (p.Ala100Pro)
c.314-1238G>C (n.314-1238G>C)
c.21G>C
n.571G>C
n.538G>C
19g.11105327G=CA2322767371LDLRc.679G= (p.Ala227=)
c.421G= (p.Ala141=)
c.675G=
c.314-2065G= (n.314-2065G=)
c.298G= (p.Ala100=)
c.314-1238G= (n.314-1238G=)
c.21G=
n.571G=
n.538G=
19g.11105327G>TCA404076395LDLRc.679G>T (p.Ala227Ser)
c.421G>T (p.Ala141Ser)
c.675G>T
c.314-2065G>T (n.314-2065G>T)
c.298G>T (p.Ala100Ser)
c.314-1238G>T (n.314-1238G>T)
c.21G>T
n.571G>T
n.538G>T
19g.11105330_11105336delCA10584915LDLRc.682_688del (p.Ser228ArgfsTer?)
c.424_430del (p.Ser142ArgfsTer?)
c.678_684del
c.314-2062_314-2056del (n.314-2062_314-2056del)
c.301_307del (p.Ser101ArgfsTer?)
c.314-1235_314-1229del (n.314-1235_314-1229del)
c.24_30del
n.574_580del
n.541_547del
 ClinVar dbSNP
19g.11105328C>ACA404076398LDLRc.680C>A (p.Ala227Asp)
c.422C>A (p.Ala141Asp)
c.676C>A
c.314-2064C>A (n.314-2064C>A)
c.299C>A (p.Ala100Asp)
c.314-1237C>A (n.314-1237C>A)
c.22C>A
n.572C>A
n.539C>A
 gnomAD v4
19g.11105328C=CA2322767372LDLRc.680C= (p.Ala227=)
c.422C= (p.Ala141=)
c.676C=
c.314-2064C= (n.314-2064C=)
c.299C= (p.Ala100=)
c.314-1237C= (n.314-1237C=)
c.22C=
n.572C=
n.539C=
19g.11105328C>GCA404076400LDLRc.680C>G (p.Ala227Gly)
c.422C>G (p.Ala141Gly)
c.676C>G
c.314-2064C>G (n.314-2064C>G)
c.299C>G (p.Ala100Gly)
c.314-1237C>G (n.314-1237C>G)
c.22C>G
n.572C>G
n.539C>G
19g.11105328C>TCA404076402LDLRc.680C>T (p.Ala227Val)
c.422C>T (p.Ala141Val)
c.676C>T
c.314-2064C>T (n.314-2064C>T)
c.299C>T (p.Ala100Val)
c.314-1237C>T (n.314-1237C>T)
c.22C>T
n.572C>T
n.539C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11105329C>ACA505743048LDLRc.681C>A (p.Ala227=)
c.423C>A (p.Ala141=)
c.677C>A
c.314-2063C>A (n.314-2063C>A)
c.300C>A (p.Ala100=)
c.314-1236C>A (n.314-1236C>A)
c.23C>A
n.573C>A
n.540C>A
19g.11105329C>GCA505743049LDLRc.681C>G (p.Ala227=)
c.423C>G (p.Ala141=)
c.677C>G
c.314-2063C>G (n.314-2063C>G)
c.300C>G (p.Ala100=)
c.314-1236C>G (n.314-1236C>G)
c.23C>G
n.573C>G
n.540C>G
19g.11105329C>TCA505743052LDLRc.681C>T (p.Ala227=)
c.423C>T (p.Ala141=)
c.677C>T
c.314-2063C>T (n.314-2063C>T)
c.300C>T (p.Ala100=)
c.314-1236C>T (n.314-1236C>T)
c.23C>T
n.573C>T
n.540C>T
 gnomAD v4
19g.11105330T>ACA043499LDLRc.682T>A (p.Ser228Thr)
c.424T>A (p.Ser142Thr)
c.678T>A
c.314-2062T>A (n.314-2062T>A)
c.301T>A (p.Ser101Thr)
c.314-1235T>A (n.314-1235T>A)
c.24T>A
n.574T>A
n.541T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105330T>CCA404076405LDLRc.682T>C (p.Ser228Pro)
c.424T>C (p.Ser142Pro)
c.678T>C
c.314-2062T>C (n.314-2062T>C)
c.301T>C (p.Ser101Pro)
c.314-1235T>C (n.314-1235T>C)
c.24T>C
n.574T>C
n.541T>C
19g.11105330T>GCA043516LDLRc.682T>G (p.Ser228Ala)
c.424T>G (p.Ser142Ala)
c.678T>G
c.314-2062T>G (n.314-2062T>G)
c.301T>G (p.Ser101Ala)
c.314-1235T>G (n.314-1235T>G)
c.24T>G
n.574T>G
n.541T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105330T=CA2322767373LDLRc.682T= (p.Ser228=)
c.424T= (p.Ser142=)
c.678T=
c.314-2062T= (n.314-2062T=)
c.301T= (p.Ser101=)
c.314-1235T= (n.314-1235T=)
c.24T=
n.574T=
n.541T=
19g.11105331C>ACA404076408LDLRc.683C>A (p.Ser228Tyr)
c.425C>A (p.Ser142Tyr)
c.679C>A
c.314-2061C>A (n.314-2061C>A)
c.302C>A (p.Ser101Tyr)
c.314-1234C>A (n.314-1234C>A)
c.25C>A
n.575C>A
n.542C>A
19g.11105331C>GCA404076410LDLRc.683C>G (p.Ser228Cys)
c.425C>G (p.Ser142Cys)
c.679C>G
c.314-2061C>G (n.314-2061C>G)
c.302C>G (p.Ser101Cys)
c.314-1234C>G (n.314-1234C>G)
c.25C>G
n.575C>G
n.542C>G
19g.11105331C>TCA404076411LDLRc.683C>T (p.Ser228Phe)
c.425C>T (p.Ser142Phe)
c.679C>T
c.314-2061C>T (n.314-2061C>T)
c.302C>T (p.Ser101Phe)
c.314-1234C>T (n.314-1234C>T)
c.25C>T
n.575C>T
n.542C>T
 ClinVar gnomAD v4 COSMIC
19g.11105332C>ACA505743057LDLRc.684C>A (p.Ser228=)
c.426C>A (p.Ser142=)
c.680C>A
c.314-2060C>A (n.314-2060C>A)
c.303C>A (p.Ser101=)
c.314-1233C>A (n.314-1233C>A)
c.26C>A
n.576C>A
n.543C>A
 ClinVar dbSNP
19g.11105332C=CA2322767374LDLRc.684C= (p.Ser228=)
c.426C= (p.Ser142=)
c.680C=
c.314-2060C= (n.314-2060C=)
c.303C= (p.Ser101=)
c.314-1233C= (n.314-1233C=)
c.26C=
n.576C=
n.543C=
19g.11105332C>GCA505743058LDLRc.684C>G (p.Ser228=)
c.426C>G (p.Ser142=)
c.680C>G
c.314-2060C>G (n.314-2060C>G)
c.303C>G (p.Ser101=)
c.314-1233C>G (n.314-1233C>G)
c.26C>G
n.576C>G
n.543C>G
19g.11105332C>TCA505743059LDLRc.684C>T (p.Ser228=)
c.426C>T (p.Ser142=)
c.680C>T
c.314-2060C>T (n.314-2060C>T)
c.303C>T (p.Ser101=)
c.314-1233C>T (n.314-1233C>T)
c.26C>T
n.576C>T
n.543C>T
 gnomAD v4
19g.11105333T>ACA404076414LDLRc.685T>A (p.Cys229Ser)
c.427T>A (p.Cys143Ser)
c.681T>A
c.314-2059T>A (n.314-2059T>A)
c.304T>A (p.Cys102Ser)
c.314-1232T>A (n.314-1232T>A)
c.27T>A
n.577T>A
n.544T>A
 ClinVar dbSNP
19g.11105333T>CCA10584916LDLRc.685T>C (p.Cys229Arg)
c.427T>C (p.Cys143Arg)
c.681T>C
c.314-2059T>C (n.314-2059T>C)
c.304T>C (p.Cys102Arg)
c.314-1232T>C (n.314-1232T>C)
c.27T>C
n.577T>C
n.544T>C
 ClinVar dbSNP gnomAD v4
19g.11105333T>GCA10576283LDLRc.685T>G (p.Cys229Gly)
c.427T>G (p.Cys143Gly)
c.681T>G
c.314-2059T>G (n.314-2059T>G)
c.304T>G (p.Cys102Gly)
c.314-1232T>G (n.314-1232T>G)
c.27T>G
n.577T>G
n.544T>G
 ClinVar dbSNP gnomAD v4
19g.11105333T=CA2322767375LDLRc.685T= (p.Cys229=)
c.427T= (p.Cys143=)
c.681T=
c.314-2059T= (n.314-2059T=)
c.304T= (p.Cys102=)
c.314-1232T= (n.314-1232T=)
c.27T=
n.577T=
n.544T=
19g.11105334G>ACA10584917LDLRc.686G>A (p.Cys229Tyr)
c.428G>A (p.Cys143Tyr)
c.682G>A
c.314-2058G>A (n.314-2058G>A)
c.305G>A (p.Cys102Tyr)
c.314-1231G>A (n.314-1231G>A)
c.28G>A
n.578G>A
n.545G>A
 ClinVar dbSNP gnomAD v4
19g.11105334G>CCA10654844LDLRc.686G>C (p.Cys229Ser)
c.428G>C (p.Cys143Ser)
c.682G>C
c.314-2058G>C (n.314-2058G>C)
c.305G>C (p.Cys102Ser)
c.314-1231G>C (n.314-1231G>C)
c.28G>C
n.578G>C
n.545G>C
 ClinVar dbSNP
19g.11105334G=CA2322767376LDLRc.686G= (p.Cys229=)
c.428G= (p.Cys143=)
c.682G=
c.314-2058G= (n.314-2058G=)
c.305G= (p.Cys102=)
c.314-1231G= (n.314-1231G=)
c.28G=
n.578G=
n.545G=
19g.11105334G>TCA404076416LDLRc.686G>T (p.Cys229Phe)
c.428G>T (p.Cys143Phe)
c.682G>T
c.314-2058G>T (n.314-2058G>T)
c.305G>T (p.Cys102Phe)
c.314-1231G>T (n.314-1231G>T)
c.28G>T
n.578G>T
n.545G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105335C>ACA043532LDLRc.687C>A (p.Cys229Ter)
c.429C>A (p.Cys143Ter)
c.683C>A
c.314-2057C>A (n.314-2057C>A)
c.306C>A (p.Cys102Ter)
c.314-1230C>A (n.314-1230C>A)
c.29C>A
n.579C>A
n.546C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105335C=CA2322767377LDLRc.687C= (p.Cys229=)
c.429C= (p.Cys143=)
c.683C=
c.314-2057C= (n.314-2057C=)
c.306C= (p.Cys102=)
c.314-1230C= (n.314-1230C=)
c.29C=
n.579C=
n.546C=
19g.11105335C>GCA404076419LDLRc.687C>G (p.Cys229Trp)
c.429C>G (p.Cys143Trp)
c.683C>G
c.314-2057C>G (n.314-2057C>G)
c.306C>G (p.Cys102Trp)
c.314-1230C>G (n.314-1230C>G)
c.29C>G
n.579C>G
n.546C>G
19g.11105335C>TCA505743063LDLRc.687C>T (p.Cys229=)
c.429C>T (p.Cys143=)
c.683C>T
c.314-2057C>T (n.314-2057C>T)
c.306C>T (p.Cys102=)
c.314-1230C>T (n.314-1230C>T)
c.29C>T
n.579C>T
n.546C>T
 gnomAD v4
19g.11105337dupCA2582473460LDLRc.689dup (p.Val231GlyfsTer?)
c.431dup (p.Val145GlyfsTer?)
c.685dup
c.314-2055dup (n.314-2055dup)
c.308dup (p.Val104GlyfsTer?)
c.314-1228dup (n.314-1228dup)
c.31dup
n.581dup
n.548dup
 gnomAD v4
19g.11105336C>ACA404076422LDLRc.688C>A (p.Pro230Thr)
c.430C>A (p.Pro144Thr)
c.684C>A
c.314-2056C>A (n.314-2056C>A)
c.307C>A (p.Pro103Thr)
c.314-1229C>A (n.314-1229C>A)
c.30C>A
n.580C>A
n.547C>A
19g.11105336C=CA2322767378LDLRc.688C= (p.Pro230=)
c.430C= (p.Pro144=)
c.684C=
c.314-2056C= (n.314-2056C=)
c.307C= (p.Pro103=)
c.314-1229C= (n.314-1229C=)
c.30C=
n.580C=
n.547C=
19g.11105336C>GCA404076425LDLRc.688C>G (p.Pro230Ala)
c.430C>G (p.Pro144Ala)
c.684C>G
c.314-2056C>G (n.314-2056C>G)
c.307C>G (p.Pro103Ala)
c.314-1229C>G (n.314-1229C>G)
c.30C>G
n.580C>G
n.547C>G
19g.11105336C>TCA404076427LDLRc.688C>T (p.Pro230Ser)
c.430C>T (p.Pro144Ser)
c.684C>T
c.314-2056C>T (n.314-2056C>T)
c.307C>T (p.Pro103Ser)
c.314-1229C>T (n.314-1229C>T)
c.30C>T
n.580C>T
n.547C>T
19g.11105337C>ACA404076429LDLRc.689C>A (p.Pro230Gln)
c.431C>A (p.Pro144Gln)
c.685C>A
c.314-2055C>A (n.314-2055C>A)
c.308C>A (p.Pro103Gln)
c.314-1228C>A (n.314-1228C>A)
c.31C>A
n.581C>A
n.548C>A
19g.11105337C=CA2322767379LDLRc.689C= (p.Pro230=)
c.431C= (p.Pro144=)
c.685C=
c.314-2055C= (n.314-2055C=)
c.308C= (p.Pro103=)
c.314-1228C= (n.314-1228C=)
c.31C=
n.581C=
n.548C=
19g.11105337C>GCA404076432LDLRc.689C>G (p.Pro230Arg)
c.431C>G (p.Pro144Arg)
c.685C>G
c.314-2055C>G (n.314-2055C>G)
c.308C>G (p.Pro103Arg)
c.314-1228C>G (n.314-1228C>G)
c.31C>G
n.581C>G
n.548C>G
 ClinVar dbSNP
19g.11105337C>TCA305296798LDLRc.689C>T (p.Pro230Leu)
c.431C>T (p.Pro144Leu)
c.685C>T
c.314-2055C>T (n.314-2055C>T)
c.308C>T (p.Pro103Leu)
c.314-1228C>T (n.314-1228C>T)
c.31C>T
n.581C>T
n.548C>T
 ClinVar dbSNP gnomAD v4
19g.11105337_11105340dupCA10584918LDLRc.689_692dup (p.Leu232GlyfsTer?)
c.431_434dup (p.Leu146GlyfsTer?)
c.685_688dup
c.314-2055_314-2052dup (n.314-2055_314-2052dup)
c.308_311dup (p.Leu105GlyfsTer?)
c.314-1228_314-1225dup (n.314-1228_314-1225dup)
c.31_34dup
n.581_584dup
n.548_551dup
 ClinVar dbSNP
19g.11105338G>ACA043545LDLRc.690G>A (p.Pro230=)
c.432G>A (p.Pro144=)
c.686G>A
c.314-2054G>A (n.314-2054G>A)
c.309G>A (p.Pro103=)
c.314-1227G>A (n.314-1227G>A)
c.32G>A
n.582G>A
n.549G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105338G>CCA505743067LDLRc.690G>C (p.Pro230=)
c.432G>C (p.Pro144=)
c.686G>C
c.314-2054G>C (n.314-2054G>C)
c.309G>C (p.Pro103=)
c.314-1227G>C (n.314-1227G>C)
c.32G>C
n.582G>C
n.549G>C
 ClinVar dbSNP gnomAD v4
19g.11105338G=CA2322767380LDLRc.690G= (p.Pro230=)
c.432G= (p.Pro144=)
c.686G=
c.314-2054G= (n.314-2054G=)
c.309G= (p.Pro103=)
c.314-1227G= (n.314-1227G=)
c.32G=
n.582G=
n.549G=
19g.11105338G>TCA505743064LDLRc.690G>T (p.Pro230=)
c.432G>T (p.Pro144=)
c.686G>T
c.314-2054G>T (n.314-2054G>T)
c.309G>T (p.Pro103=)
c.314-1227G>T (n.314-1227G>T)
c.32G>T
n.582G>T
n.549G>T
 gnomAD v4
19g.11105339dupCA1139666291LDLRc.691dup (p.Val231GlyfsTer?)
c.433dup (p.Val145GlyfsTer?)
c.687dup
c.314-2053dup (n.314-2053dup)
c.310dup (p.Val104GlyfsTer?)
c.314-1226dup (n.314-1226dup)
c.33dup
n.583dup
n.550dup
 ClinVar dbSNP
19g.11105338_11105339insACA2497030116LDLRc.690_691insA (p.Val231SerfsTer?)
c.432_433insA (p.Val145SerfsTer?)
c.686_687insA
c.314-2054_314-2053insA (n.314-2054_314-2053insA)
c.309_310insA (p.Val104SerfsTer?)
c.314-1227_314-1226insA (n.314-1227_314-1226insA)
c.32_33insA
n.582_583insA
n.549_550insA
19g.11105339G>ACA404076435LDLRc.691G>A (p.Val231Met)
c.433G>A (p.Val145Met)
c.687G>A
c.314-2053G>A (n.314-2053G>A)
c.310G>A (p.Val104Met)
c.314-1226G>A (n.314-1226G>A)
c.33G>A
n.583G>A
n.550G>A
19g.11105339G>CCA404076437LDLRc.691G>C (p.Val231Leu)
c.433G>C (p.Val145Leu)
c.687G>C
c.314-2053G>C (n.314-2053G>C)
c.310G>C (p.Val104Leu)
c.314-1226G>C (n.314-1226G>C)
c.33G>C
n.583G>C
n.550G>C
19g.11105339G>TCA404076439LDLRc.691G>T (p.Val231Leu)
c.433G>T (p.Val145Leu)
c.687G>T
c.314-2053G>T (n.314-2053G>T)
c.310G>T (p.Val104Leu)
c.314-1226G>T (n.314-1226G>T)
c.33G>T
n.583G>T
n.550G>T
19g.11105340T>ACA404076441LDLRc.692T>A (p.Val231Glu)
c.434T>A (p.Val145Glu)
c.688T>A
c.314-2052T>A (n.314-2052T>A)
c.311T>A (p.Val104Glu)
c.314-1225T>A (n.314-1225T>A)
c.34T>A
n.584T>A
n.551T>A
19g.11105340T>CCA043591LDLRc.692T>C (p.Val231Ala)
c.434T>C (p.Val145Ala)
c.688T>C
c.314-2052T>C (n.314-2052T>C)
c.311T>C (p.Val104Ala)
c.314-1225T>C (n.314-1225T>C)
c.34T>C
n.584T>C
n.551T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105340T>GCA404076444LDLRc.692T>G (p.Val231Gly)
c.434T>G (p.Val145Gly)
c.688T>G
c.314-2052T>G (n.314-2052T>G)
c.311T>G (p.Val104Gly)
c.314-1225T>G (n.314-1225T>G)
c.34T>G
n.584T>G
n.551T>G
19g.11105340T=CA2322767381LDLRc.692T= (p.Val231=)
c.434T= (p.Val145=)
c.688T=
c.314-2052T= (n.314-2052T=)
c.311T= (p.Val104=)
c.314-1225T= (n.314-1225T=)
c.34T=
n.584T=
n.551T=
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.11105341G>ACA505743071LDLRc.693G>A (p.Val231=)
c.435G>A (p.Val145=)
c.689G>A
c.314-2051G>A (n.314-2051G>A)
c.312G>A (p.Val104=)
c.314-1224G>A (n.314-1224G>A)
c.35G>A
n.585G>A
n.552G>A
19g.11105341G>CCA505743072LDLRc.693G>C (p.Val231=)
c.435G>C (p.Val145=)
c.689G>C
c.314-2051G>C (n.314-2051G>C)
c.312G>C (p.Val104=)
c.314-1224G>C (n.314-1224G>C)
c.35G>C
n.585G>C
n.552G>C
 gnomAD v4
19g.11105341G>TCA505743073LDLRc.693G>T (p.Val231=)
c.435G>T (p.Val145=)
c.689G>T
c.314-2051G>T (n.314-2051G>T)
c.312G>T (p.Val104=)
c.314-1224G>T (n.314-1224G>T)
c.35G>T
n.585G>T
n.552G>T
19g.11105342C>ACA404076446LDLRc.694C>A (p.Leu232Ile)
c.436C>A (p.Leu146Ile)
c.690C>A
c.314-2050C>A (n.314-2050C>A)
c.313C>A (p.Leu105Ile)
c.314-1223C>A (n.314-1223C>A)
c.36C>A
n.586C>A
n.553C>A
19g.11105342C=CA2322767382LDLRc.694C= (p.Leu232=)
c.436C= (p.Leu146=)
c.690C=
c.314-2050C= (n.314-2050C=)
c.313C= (p.Leu105=)
c.314-1223C= (n.314-1223C=)
c.36C=
n.586C=
n.553C=
19g.11105342C>GCA404076450LDLRc.694C>G (p.Leu232Val)
c.436C>G (p.Leu146Val)
c.690C>G
c.314-2050C>G (n.314-2050C>G)
c.313C>G (p.Leu105Val)
c.314-1223C>G (n.314-1223C>G)
c.36C>G
n.586C>G
n.553C>G
19g.11105342C>TCA404076448LDLRc.694C>T (p.Leu232Phe)
c.436C>T (p.Leu146Phe)
c.690C>T
c.314-2050C>T (n.314-2050C>T)
c.313C>T (p.Leu105Phe)
c.314-1223C>T (n.314-1223C>T)
c.36C>T
n.586C>T
n.553C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11105343T>ACA404076452LDLRc.695T>A (p.Leu232His)
c.437T>A (p.Leu146His)
c.691T>A
c.314-2049T>A (n.314-2049T>A)
c.314T>A (p.Leu105His)
c.314-1222T>A (n.314-1222T>A)
c.37T>A
n.587T>A
n.554T>A
19g.11105343T>CCA404076453LDLRc.695T>C (p.Leu232Pro)
c.437T>C (p.Leu146Pro)
c.691T>C
c.314-2049T>C (n.314-2049T>C)
c.314T>C (p.Leu105Pro)
c.314-1222T>C (n.314-1222T>C)
c.37T>C
n.587T>C
n.554T>C
 gnomAD v4
19g.11105343T>GCA404076455LDLRc.695T>G (p.Leu232Arg)
c.437T>G (p.Leu146Arg)
c.691T>G
c.314-2049T>G (n.314-2049T>G)
c.314T>G (p.Leu105Arg)
c.314-1222T>G (n.314-1222T>G)
c.37T>G
n.587T>G
n.554T>G
19g.11105344C>ACA043600LDLRc.696C>A (p.Leu232=)
c.438C>A (p.Leu146=)
c.692C>A
c.314-2048C>A (n.314-2048C>A)
c.315C>A (p.Leu105=)
c.314-1221C>A (n.314-1221C>A)
c.38C>A
n.588C>A
n.555C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105344C=CA2322767383LDLRc.696C= (p.Leu232=)
c.438C= (p.Leu146=)
c.692C=
c.314-2048C= (n.314-2048C=)
c.315C= (p.Leu105=)
c.314-1221C= (n.314-1221C=)
c.38C=
n.588C=
n.555C=
19g.11105344C>GCA505743076LDLRc.696C>G (p.Leu232=)
c.438C>G (p.Leu146=)
c.692C>G
c.314-2048C>G (n.314-2048C>G)
c.315C>G (p.Leu105=)
c.314-1221C>G (n.314-1221C>G)
c.38C>G
n.588C>G
n.555C>G
19g.11105344C>TCA505743078LDLRc.696C>T (p.Leu232=)
c.438C>T (p.Leu146=)
c.692C>T
c.314-2048C>T (n.314-2048C>T)
c.315C>T (p.Leu105=)
c.314-1221C>T (n.314-1221C>T)
c.38C>T
n.588C>T
n.555C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105345A=CA2322767384LDLRc.697A= (p.Thr233=)
c.439A= (p.Thr147=)
c.693A=
c.314-2047A= (n.314-2047A=)
c.316A= (p.Thr106=)
c.314-1220A= (n.314-1220A=)
c.39A=
n.589A=
n.556A=
19g.11105345A>CCA404076457LDLRc.697A>C (p.Thr233Pro)
c.439A>C (p.Thr147Pro)
c.693A>C
c.314-2047A>C (n.314-2047A>C)
c.316A>C (p.Thr106Pro)
c.314-1220A>C (n.314-1220A>C)
c.39A>C
n.589A>C
n.556A>C
 dbSNP
19g.11105345A>GCA404076458LDLRc.697A>G (p.Thr233Ala)
c.439A>G (p.Thr147Ala)
c.693A>G
c.314-2047A>G (n.314-2047A>G)
c.316A>G (p.Thr106Ala)
c.314-1220A>G (n.314-1220A>G)
c.39A>G
n.589A>G
n.556A>G
19g.11105345A>TCA404076459LDLRc.697A>T (p.Thr233Ser)
c.439A>T (p.Thr147Ser)
c.693A>T
c.314-2047A>T (n.314-2047A>T)
c.316A>T (p.Thr106Ser)
c.314-1220A>T (n.314-1220A>T)
c.39A>T
n.589A>T
n.556A>T
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.11105346C>ACA404076462LDLRc.698C>A (p.Thr233Asn)
c.440C>A (p.Thr147Asn)
c.694C>A
c.314-2046C>A (n.314-2046C>A)
c.317C>A (p.Thr106Asn)
c.314-1219C>A (n.314-1219C>A)
c.40C>A
n.590C>A
n.557C>A
19g.11105346C=CA2322767385LDLRc.698C= (p.Thr233=)
c.440C= (p.Thr147=)
c.694C=
c.314-2046C= (n.314-2046C=)
c.317C= (p.Thr106=)
c.314-1219C= (n.314-1219C=)
c.40C=
n.590C=
n.557C=
19g.11105346C>GCA404076463LDLRc.698C>G (p.Thr233Ser)
c.440C>G (p.Thr147Ser)
c.694C>G
c.314-2046C>G (n.314-2046C>G)
c.317C>G (p.Thr106Ser)
c.314-1219C>G (n.314-1219C>G)
c.40C>G
n.590C>G
n.557C>G
 dbSNP
19g.11105346C>TCA10584919LDLRc.698C>T (p.Thr233Ile)
c.440C>T (p.Thr147Ile)
c.694C>T
c.314-2046C>T (n.314-2046C>T)
c.317C>T (p.Thr106Ile)
c.314-1219C>T (n.314-1219C>T)
c.40C>T
n.590C>T
n.557C>T
 ClinVar dbSNP
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.11105347C>ACA505743080LDLRc.699C>A (p.Thr233=)
c.441C>A (p.Thr147=)
c.695C>A
c.314-2045C>A (n.314-2045C>A)
c.318C>A (p.Thr106=)
c.314-1218C>A (n.314-1218C>A)
c.41C>A
n.591C>A
n.558C>A
19g.11105347C>GCA505743081LDLRc.699C>G (p.Thr233=)
c.441C>G (p.Thr147=)
c.695C>G
c.314-2045C>G (n.314-2045C>G)
c.318C>G (p.Thr106=)
c.314-1218C>G (n.314-1218C>G)
c.41C>G
n.591C>G
n.558C>G
19g.11105347C>TCA505743082LDLRc.699C>T (p.Thr233=)
c.441C>T (p.Thr147=)
c.695C>T
c.314-2045C>T (n.314-2045C>T)
c.318C>T (p.Thr106=)
c.314-1218C>T (n.314-1218C>T)
c.41C>T
n.591C>T
n.558C>T
 ClinVar dbSNP gnomAD v4
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
19g.11105356dupCA10584925LDLRc.708dup (p.Ala237ArgfsTer29)
c.450dup (p.Ala151ArgfsTer29)
c.704dup
c.314-2036dup (n.314-2036dup)
c.327dup (p.Ala110ArgfsTer29)
c.314-1209dup (n.314-1209dup)
c.50dup
n.600dup
n.567dup
 ClinVar dbSNP
19g.11105354_11105357delinsCCCGCA2322767393LDLRc.706_709delinsCCCG (p.Pro236=)
c.448_451delinsCCCG (p.Pro150=)
c.702_705delinsCCCG
c.314-2038_314-2035delinsCCCG (n.314-2038_314-2035delinsCCCG)
c.325_328delinsCCCG (p.Pro109=)
c.314-1211_314-1208delinsCCCG (n.314-1211_314-1208delinsCCCG)
c.48_51delinsCCCG
n.598_601delinsCCCG
n.565_568delinsCCCG
19g.11105355C>ACA404076494LDLRc.707C>A (p.Pro236His)
c.449C>A (p.Pro150His)
c.703C>A
c.314-2037C>A (n.314-2037C>A)
c.326C>A (p.Pro109His)
c.314-1210C>A (n.314-1210C>A)
c.49C>A
n.599C>A
n.566C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105355C=CA2322767394LDLRc.707C= (p.Pro236=)
c.449C= (p.Pro150=)
c.703C=
c.314-2037C= (n.314-2037C=)
c.326C= (p.Pro109=)
c.314-1210C= (n.314-1210C=)
c.49C=
n.599C=
n.566C=
19g.11105355C>GCA404076499LDLRc.707C>G (p.Pro236Arg)
c.449C>G (p.Pro150Arg)
c.703C>G
c.314-2037C>G (n.314-2037C>G)
c.326C>G (p.Pro109Arg)
c.314-1210C>G (n.314-1210C>G)
c.49C>G
n.599C>G
n.566C>G
19g.11105355C>TCA404076497LDLRc.707C>T (p.Pro236Leu)
c.449C>T (p.Pro150Leu)
c.703C>T
c.314-2037C>T (n.314-2037C>T)
c.326C>T (p.Pro109Leu)
c.314-1210C>T (n.314-1210C>T)
c.49C>T
n.599C>T
n.566C>T
19g.11105357_11105359delCA10584927LDLRc.709_711del (p.Ala237del)
c.451_453del (p.Ala151del)
c.705_707del
c.314-2035_314-2033del (n.314-2035_314-2033del)
c.328_330del (p.Ala110del)
c.314-1208_314-1206del (n.314-1208_314-1206del)
c.51_53del
n.601_603del
n.568_570del
 ClinVar dbSNP
19g.11105356C>ACA505743099LDLRc.708C>A (p.Pro236=)
c.450C>A (p.Pro150=)
c.704C>A
c.314-2036C>A (n.314-2036C>A)
c.327C>A (p.Pro109=)
c.314-1209C>A (n.314-1209C>A)
c.50C>A
n.600C>A
n.567C>A
19g.11105356C=CA2322767395LDLRc.708C= (p.Pro236=)
c.450C= (p.Pro150=)
c.704C=
c.314-2036C= (n.314-2036C=)
c.327C= (p.Pro109=)
c.314-1209C= (n.314-1209C=)
c.50C=
n.600C=
n.567C=
19g.11105356C>GCA505743100LDLRc.708C>G (p.Pro236=)
c.450C>G (p.Pro150=)
c.704C>G
c.314-2036C>G (n.314-2036C>G)
c.327C>G (p.Pro109=)
c.314-1209C>G (n.314-1209C>G)
c.50C>G
n.600C>G
n.567C>G
19g.11105356C>TCA043626LDLRc.708C>T (p.Pro236=)
c.450C>T (p.Pro150=)
c.704C>T
c.314-2036C>T (n.314-2036C>T)
c.327C>T (p.Pro109=)
c.314-1209C>T (n.314-1209C>T)
c.50C>T
n.600C>T
n.567C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105357G>ACA10584926LDLRc.709G>A (p.Ala237Thr)
c.451G>A (p.Ala151Thr)
c.705G>A
c.314-2035G>A (n.314-2035G>A)
c.328G>A (p.Ala110Thr)
c.314-1208G>A (n.314-1208G>A)
c.51G>A
n.601G>A
n.568G>A
 ClinVar dbSNP gnomAD v4
19g.11105357G>CCA043633LDLRc.709G>C (p.Ala237Pro)
c.451G>C (p.Ala151Pro)
c.705G>C
c.314-2035G>C (n.314-2035G>C)
c.328G>C (p.Ala110Pro)
c.314-1208G>C (n.314-1208G>C)
c.51G>C
n.601G>C
n.568G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105357G=CA2322767396LDLRc.709G= (p.Ala237=)
c.451G= (p.Ala151=)
c.705G=
c.314-2035G= (n.314-2035G=)
c.328G= (p.Ala110=)
c.314-1208G= (n.314-1208G=)
c.51G=
n.601G=
n.568G=
19g.11105357G>TCA404076505LDLRc.709G>T (p.Ala237Ser)
c.451G>T (p.Ala151Ser)
c.705G>T
c.314-2035G>T (n.314-2035G>T)
c.328G>T (p.Ala110Ser)
c.314-1208G>T (n.314-1208G>T)
c.51G>T
n.601G>T
n.568G>T
 ClinVar gnomAD v4
19g.11105358C>ACA404076507LDLRc.710C>A (p.Ala237Asp)
c.452C>A (p.Ala151Asp)
c.706C>A
c.314-2034C>A (n.314-2034C>A)
c.329C>A (p.Ala110Asp)
c.314-1207C>A (n.314-1207C>A)
c.52C>A
n.602C>A
n.569C>A
19g.11105358C>GCA404076509LDLRc.710C>G (p.Ala237Gly)
c.452C>G (p.Ala151Gly)
c.706C>G
c.314-2034C>G (n.314-2034C>G)
c.329C>G (p.Ala110Gly)
c.314-1207C>G (n.314-1207C>G)
c.52C>G
n.602C>G
n.569C>G
19g.11105358C>TCA404076511LDLRc.710C>T (p.Ala237Val)
c.452C>T (p.Ala151Val)
c.706C>T
c.314-2034C>T (n.314-2034C>T)
c.329C>T (p.Ala110Val)
c.314-1207C>T (n.314-1207C>T)
c.52C>T
n.602C>T
n.569C>T
19g.11105359C>ACA505743107LDLRc.711C>A (p.Ala237=)
c.453C>A (p.Ala151=)
c.707C>A
c.314-2033C>A (n.314-2033C>A)
c.330C>A (p.Ala110=)
c.314-1206C>A (n.314-1206C>A)
c.53C>A
n.603C>A
n.570C>A
19g.11105359C>GCA505743106LDLRc.711C>G (p.Ala237=)
c.453C>G (p.Ala151=)
c.707C>G
c.314-2033C>G (n.314-2033C>G)
c.330C>G (p.Ala110=)
c.314-1206C>G (n.314-1206C>G)
c.53C>G
n.603C>G
n.570C>G
19g.11105359C>TCA505743105LDLRc.711C>T (p.Ala237=)
c.453C>T (p.Ala151=)
c.707C>T
c.314-2033C>T (n.314-2033C>T)
c.330C>T (p.Ala110=)
c.314-1206C>T (n.314-1206C>T)
c.53C>T
n.603C>T
n.570C>T
 ClinVar dbSNP gnomAD v4
19g.11105360A>CCA404076513LDLRc.712A>C (p.Ser238Arg)
c.454A>C (p.Ser152Arg)
c.708A>C
c.314-2032A>C (n.314-2032A>C)
c.331A>C (p.Ser111Arg)
c.314-1205A>C (n.314-1205A>C)
c.54A>C
n.604A>C
n.571A>C
19g.11105360A>GCA404076515LDLRc.712A>G (p.Ser238Gly)
c.454A>G (p.Ser152Gly)
c.708A>G
c.314-2032A>G (n.314-2032A>G)
c.331A>G (p.Ser111Gly)
c.314-1205A>G (n.314-1205A>G)
c.54A>G
n.604A>G
n.571A>G
 ClinVar
19g.11105360A>TCA404076516LDLRc.712A>T (p.Ser238Cys)
c.454A>T (p.Ser152Cys)
c.708A>T
c.314-2032A>T (n.314-2032A>T)
c.331A>T (p.Ser111Cys)
c.314-1205A>T (n.314-1205A>T)
c.54A>T
n.604A>T
n.571A>T
19g.11105360dupCA2695195460LDLRc.712dup (p.Ser238LysfsTer28)
c.454dup (p.Ser152LysfsTer28)
c.708dup
c.314-2032dup (n.314-2032dup)
c.331dup (p.Ser111LysfsTer28)
c.314-1205dup (n.314-1205dup)
c.54dup
n.604dup
n.571dup
19g.11105361delCA2573050572LDLRc.713del (p.Ser238ThrfsTer?)
c.455del (p.Ser152ThrfsTer?)
c.709del
c.314-2031del (n.314-2031del)
c.332del (p.Ser111ThrfsTer?)
c.314-1204del (n.314-1204del)
c.55del
n.605del
n.572del
19g.11105361G>ACA404076518LDLRc.713G>A (p.Ser238Asn)
c.455G>A (p.Ser152Asn)
c.709G>A
c.314-2031G>A (n.314-2031G>A)
c.332G>A (p.Ser111Asn)
c.314-1204G>A (n.314-1204G>A)
c.55G>A
n.605G>A
n.572G>A
19g.11105361G>CCA404076523LDLRc.713G>C (p.Ser238Thr)
c.455G>C (p.Ser152Thr)
c.709G>C
c.314-2031G>C (n.314-2031G>C)
c.332G>C (p.Ser111Thr)
c.314-1204G>C (n.314-1204G>C)
c.55G>C
n.605G>C
n.572G>C
 gnomAD v4
19g.11105361G>TCA404076520LDLRc.713G>T (p.Ser238Ile)
c.455G>T (p.Ser152Ile)
c.709G>T
c.314-2031G>T (n.314-2031G>T)
c.332G>T (p.Ser111Ile)
c.314-1204G>T (n.314-1204G>T)
c.55G>T
n.605G>T
n.572G>T
19g.11105363_11105371delCA2695223200LDLRc.715_723del (p.Phe239_Cys241del)
c.457_465del (p.Phe153_Cys155del)
c.711_719del
c.314-2029_314-2021del (n.314-2029_314-2021del)
c.334_342del (p.Phe112_Cys114del)
c.314-1202_314-1194del (n.314-1202_314-1194del)
c.57_65del
n.607_615del
n.574_582del
19g.11105362C>ACA404076530LDLRc.714C>A (p.Ser238Arg)
c.456C>A (p.Ser152Arg)
c.710C>A
c.314-2030C>A (n.314-2030C>A)
c.333C>A (p.Ser111Arg)
c.314-1203C>A (n.314-1203C>A)
c.56C>A
n.606C>A
n.573C>A
19g.11105362C=CA2322767397LDLRc.714C= (p.Ser238=)
c.456C= (p.Ser152=)
c.710C=
c.314-2030C= (n.314-2030C=)
c.333C= (p.Ser111=)
c.314-1203C= (n.314-1203C=)
c.56C=
n.606C=
n.573C=
19g.11105362C>GCA404076532LDLRc.714C>G (p.Ser238Arg)
c.456C>G (p.Ser152Arg)
c.710C>G
c.314-2030C>G (n.314-2030C>G)
c.333C>G (p.Ser111Arg)
c.314-1203C>G (n.314-1203C>G)
c.56C>G
n.606C>G
n.573C>G
19g.11105362C>TCA505743112LDLRc.714C>T (p.Ser238=)
c.456C>T (p.Ser152=)
c.710C>T
c.314-2030C>T (n.314-2030C>T)
c.333C>T (p.Ser111=)
c.314-1203C>T (n.314-1203C>T)
c.56C>T
n.606C>T
n.573C>T
 dbSNP
19g.11105363T>ACA404076536LDLRc.715T>A (p.Phe239Ile)
c.457T>A (p.Phe153Ile)
c.711T>A
c.314-2029T>A (n.314-2029T>A)
c.334T>A (p.Phe112Ile)
c.314-1202T>A (n.314-1202T>A)
c.57T>A
n.607T>A
n.574T>A
19g.11105363T>CCA404076539LDLRc.715T>C (p.Phe239Leu)
c.457T>C (p.Phe153Leu)
c.711T>C
c.314-2029T>C (n.314-2029T>C)
c.334T>C (p.Phe112Leu)
c.314-1202T>C (n.314-1202T>C)
c.57T>C
n.607T>C
n.574T>C
 gnomAD v4
19g.11105363T>GCA10584928LDLRc.715T>G (p.Phe239Val)
c.457T>G (p.Phe153Val)
c.711T>G
c.314-2029T>G (n.314-2029T>G)
c.334T>G (p.Phe112Val)
c.314-1202T>G (n.314-1202T>G)
c.57T>G
n.607T>G
n.574T>G
 ClinVar dbSNP
19g.11105363T=CA2322767398LDLRc.715T= (p.Phe239=)
c.457T= (p.Phe153=)
c.711T=
c.314-2029T= (n.314-2029T=)
c.334T= (p.Phe112=)
c.314-1202T= (n.314-1202T=)
c.57T=
n.607T=
n.574T=
19g.11105364T>ACA404076545LDLRc.716T>A (p.Phe239Tyr)
c.458T>A (p.Phe153Tyr)
c.712T>A
c.314-2028T>A (n.314-2028T>A)
c.335T>A (p.Phe112Tyr)
c.314-1201T>A (n.314-1201T>A)
c.58T>A
n.608T>A
n.575T>A
19g.11105364T>CCA404076548LDLRc.716T>C (p.Phe239Ser)
c.458T>C (p.Phe153Ser)
c.712T>C
c.314-2028T>C (n.314-2028T>C)
c.335T>C (p.Phe112Ser)
c.314-1201T>C (n.314-1201T>C)
c.58T>C
n.608T>C
n.575T>C
19g.11105364T>GCA10584929LDLRc.716T>G (p.Phe239Cys)
c.458T>G (p.Phe153Cys)
c.712T>G
c.314-2028T>G (n.314-2028T>G)
c.335T>G (p.Phe112Cys)
c.314-1201T>G (n.314-1201T>G)
c.58T>G
n.608T>G
n.575T>G
 ClinVar dbSNP
19g.11105364T=CA2322767399LDLRc.716T= (p.Phe239=)
c.458T= (p.Phe153=)
c.712T=
c.314-2028T= (n.314-2028T=)
c.335T= (p.Phe112=)
c.314-1201T= (n.314-1201T=)
c.58T=
n.608T=
n.575T=
19g.11105364_11105365delinsTCCA2322767400LDLRc.716_717delinsTC (p.Phe239=)
c.458_459delinsTC (p.Phe153=)
c.712_713delinsTC
c.314-2028_314-2027delinsTC (n.314-2028_314-2027delinsTC)
c.335_336delinsTC (p.Phe112=)
c.314-1201_314-1200delinsTC (n.314-1201_314-1200delinsTC)
c.58_59delinsTC
n.608_609delinsTC
n.575_576delinsTC
19g.11105365C>ACA404076551LDLRc.717C>A (p.Phe239Leu)
c.459C>A (p.Phe153Leu)
c.713C>A
c.314-2027C>A (n.314-2027C>A)
c.336C>A (p.Phe112Leu)
c.314-1200C>A (n.314-1200C>A)
c.59C>A
n.609C>A
n.576C>A
19g.11105365C>GCA404076555LDLRc.717C>G (p.Phe239Leu)
c.459C>G (p.Phe153Leu)
c.713C>G
c.314-2027C>G (n.314-2027C>G)
c.336C>G (p.Phe112Leu)
c.314-1200C>G (n.314-1200C>G)
c.59C>G
n.609C>G
n.576C>G
19g.11105365C>TCA505743119LDLRc.717C>T (p.Phe239=)
c.459C>T (p.Phe153=)
c.713C>T
c.314-2027C>T (n.314-2027C>T)
c.336C>T (p.Phe112=)
c.314-1200C>T (n.314-1200C>T)
c.59C>T
n.609C>T
n.576C>T
19g.11105366delCA645294118LDLRc.718del (p.Gln240SerfsTer?)
c.460del (p.Gln154SerfsTer?)
c.714del
c.314-2026del (n.314-2026del)
c.337del (p.Gln113SerfsTer?)
c.314-1199del (n.314-1199del)
c.60del
n.610del
n.577del
 ClinVar dbSNP
19g.11105366C>ACA404076558LDLRc.718C>A (p.Gln240Lys)
c.460C>A (p.Gln154Lys)
c.714C>A
c.314-2026C>A (n.314-2026C>A)
c.337C>A (p.Gln113Lys)
c.314-1199C>A (n.314-1199C>A)
c.60C>A
n.610C>A
n.577C>A
 COSMIC
19g.11105366C=CA2322767401LDLRc.718C= (p.Gln240=)
c.460C= (p.Gln154=)
c.714C=
c.314-2026C= (n.314-2026C=)
c.337C= (p.Gln113=)
c.314-1199C= (n.314-1199C=)
c.60C=
n.610C=
n.577C=
19g.11105366C>GCA404076561LDLRc.718C>G (p.Gln240Glu)
c.460C>G (p.Gln154Glu)
c.714C>G
c.314-2026C>G (n.314-2026C>G)
c.337C>G (p.Gln113Glu)
c.314-1199C>G (n.314-1199C>G)
c.60C>G
n.610C>G
n.577C>G
19g.11105366C>TCA10584930LDLRc.718C>T (p.Gln240Ter)
c.460C>T (p.Gln154Ter)
c.714C>T
c.314-2026C>T (n.314-2026C>T)
c.337C>T (p.Gln113Ter)
c.314-1199C>T (n.314-1199C>T)
c.60C>T
n.610C>T
n.577C>T
 ClinVar dbSNP
19g.11105367A>CCA404076565LDLRc.719A>C (p.Gln240Pro)
c.461A>C (p.Gln154Pro)
c.715A>C
c.314-2025A>C (n.314-2025A>C)
c.338A>C (p.Gln113Pro)
c.314-1198A>C (n.314-1198A>C)
c.61A>C
n.611A>C
n.578A>C
19g.11105367A>GCA404076569LDLRc.719A>G (p.Gln240Arg)
c.461A>G (p.Gln154Arg)
c.715A>G
c.314-2025A>G (n.314-2025A>G)
c.338A>G (p.Gln113Arg)
c.314-1198A>G (n.314-1198A>G)
c.61A>G
n.611A>G
n.578A>G
19g.11105367A>TCA404076567LDLRc.719A>T (p.Gln240Leu)
c.461A>T (p.Gln154Leu)
c.715A>T
c.314-2025A>T (n.314-2025A>T)
c.338A>T (p.Gln113Leu)
c.314-1198A>T (n.314-1198A>T)
c.61A>T
n.611A>T
n.578A>T
19g.11105368G>ACA505743126LDLRc.720G>A (p.Gln240=)
c.462G>A (p.Gln154=)
c.716G>A
c.314-2024G>A (n.314-2024G>A)
c.339G>A (p.Gln113=)
c.314-1197G>A (n.314-1197G>A)
c.62G>A
n.612G>A
n.579G>A
 ClinVar dbSNP
19g.11105368G>CCA404076573LDLRc.720G>C (p.Gln240His)
c.462G>C (p.Gln154His)
c.716G>C
c.314-2024G>C (n.314-2024G>C)
c.339G>C (p.Gln113His)
c.314-1197G>C (n.314-1197G>C)
c.62G>C
n.612G>C
n.579G>C
 ClinVar dbSNP gnomAD v4
19g.11105368G=CA2322767402LDLRc.720G= (p.Gln240=)
c.462G= (p.Gln154=)
c.716G=
c.314-2024G= (n.314-2024G=)
c.339G= (p.Gln113=)
c.314-1197G= (n.314-1197G=)
c.62G=
n.612G=
n.579G=
19g.11105368G>TCA404076575LDLRc.720G>T (p.Gln240His)
c.462G>T (p.Gln154His)
c.716G>T
c.314-2024G>T (n.314-2024G>T)
c.339G>T (p.Gln113His)
c.314-1197G>T (n.314-1197G>T)
c.62G>T
n.612G>T
n.579G>T
19g.11105369T>ACA404076578LDLRc.721T>A (p.Cys241Ser)
c.463T>A (p.Cys155Ser)
c.717T>A
c.314-2023T>A (n.314-2023T>A)
c.340T>A (p.Cys114Ser)
c.314-1196T>A (n.314-1196T>A)
c.63T>A
n.613T>A
n.580T>A
 ClinVar dbSNP
19g.11105369T>CCA10584931LDLRc.721T>C (p.Cys241Arg)
c.463T>C (p.Cys155Arg)
c.717T>C
c.314-2023T>C (n.314-2023T>C)
c.340T>C (p.Cys114Arg)
c.314-1196T>C (n.314-1196T>C)
c.63T>C
n.613T>C
n.580T>C
 ClinVar dbSNP
19g.11105369T>GCA10584932LDLRc.721T>G (p.Cys241Gly)
c.463T>G (p.Cys155Gly)
c.717T>G
c.314-2023T>G (n.314-2023T>G)
c.340T>G (p.Cys114Gly)
c.314-1196T>G (n.314-1196T>G)
c.63T>G
n.613T>G
n.580T>G
 ClinVar dbSNP
19g.11105369T=CA2322767403LDLRc.721T= (p.Cys241=)
c.463T= (p.Cys155=)
c.717T=
c.314-2023T= (n.314-2023T=)
c.340T= (p.Cys114=)
c.314-1196T= (n.314-1196T=)
c.63T=
n.613T=
n.580T=
19g.11105370G>ACA10584933LDLRc.722G>A (p.Cys241Tyr)
c.464G>A (p.Cys155Tyr)
c.718G>A
c.314-2022G>A (n.314-2022G>A)
c.341G>A (p.Cys114Tyr)
c.314-1195G>A (n.314-1195G>A)
c.64G>A
n.614G>A
n.581G>A
 ClinVar dbSNP
19g.11105370G>CCA404076587LDLRc.722G>C (p.Cys241Ser)
c.464G>C (p.Cys155Ser)
c.718G>C
c.314-2022G>C (n.314-2022G>C)
c.341G>C (p.Cys114Ser)
c.314-1195G>C (n.314-1195G>C)
c.64G>C
n.614G>C
n.581G>C
19g.11105370G=CA2322767404LDLRc.722G= (p.Cys241=)
c.464G= (p.Cys155=)
c.718G=
c.314-2022G= (n.314-2022G=)
c.341G= (p.Cys114=)
c.314-1195G= (n.314-1195G=)
c.64G=
n.614G=
n.581G=
19g.11105370G>TCA10584934LDLRc.722G>T (p.Cys241Phe)
c.464G>T (p.Cys155Phe)
c.718G>T
c.314-2022G>T (n.314-2022G>T)
c.341G>T (p.Cys114Phe)
c.314-1195G>T (n.314-1195G>T)
c.64G>T
n.614G>T
n.581G>T
 ClinVar dbSNP
19g.11105372_11105377delCA2580096441LDLRc.724_729del (p.Asn242_Ser243del)
c.466_471del (p.Asn156_Ser157del)
c.720_725del
c.314-2020_314-2015del (n.314-2020_314-2015del)
c.343_348del (p.Asn115_Ser116del)
c.314-1193_314-1188del (n.314-1193_314-1188del)
c.66_71del
n.616_621del
n.583_588del
 ClinVar
19g.11105371C>ACA043661LDLRc.723C>A (p.Cys241Ter)
c.465C>A (p.Cys155Ter)
c.719C>A
c.314-2021C>A (n.314-2021C>A)
c.342C>A (p.Cys114Ter)
c.314-1194C>A (n.314-1194C>A)
c.65C>A
n.615C>A
n.582C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105371C=CA2322767405LDLRc.723C= (p.Cys241=)
c.465C= (p.Cys155=)
c.719C=
c.314-2021C= (n.314-2021C=)
c.342C= (p.Cys114=)
c.314-1194C= (n.314-1194C=)
c.65C=
n.615C=
n.582C=
19g.11105371C>GCA404076603LDLRc.723C>G (p.Cys241Trp)
c.465C>G (p.Cys155Trp)
c.719C>G
c.314-2021C>G (n.314-2021C>G)
c.342C>G (p.Cys114Trp)
c.314-1194C>G (n.314-1194C>G)
c.65C>G
n.615C>G
n.582C>G
19g.11105371C>TCA505743132LDLRc.723C>T (p.Cys241=)
c.465C>T (p.Cys155=)
c.719C>T
c.314-2021C>T (n.314-2021C>T)
c.342C>T (p.Cys114=)
c.314-1194C>T (n.314-1194C>T)
c.65C>T
n.615C>T
n.582C>T
19g.11105371_11105372delinsCACA2322767406LDLRc.723_724delinsCA (p.Cys241=)
c.465_466delinsCA (p.Cys155=)
c.719_720delinsCA
c.314-2021_314-2020delinsCA (n.314-2021_314-2020delinsCA)
c.342_343delinsCA (p.Cys114=)
c.314-1194_314-1193delinsCA (n.314-1194_314-1193delinsCA)
c.65_66delinsCA
n.615_616delinsCA
n.582_583delinsCA
19g.11105372_11105390dupCA10584935LDLRc.724_742dup (p.Pro248GlnfsTer24)
c.466_484dup (p.Pro162GlnfsTer24)
c.720_738dup
c.314-2020_314-2002dup (n.314-2020_314-2002dup)
c.343_361dup (p.Pro121GlnfsTer24)
c.314-1193_314-1175dup (n.314-1193_314-1175dup)
c.66_84dup
n.616_634dup
n.583_601dup
 ClinVar dbSNP
19g.11105372A>CCA404076613LDLRc.724A>C (p.Asn242His)
c.466A>C (p.Asn156His)
c.720A>C
c.314-2020A>C (n.314-2020A>C)
c.343A>C (p.Asn115His)
c.314-1193A>C (n.314-1193A>C)
c.66A>C
n.616A>C
n.583A>C
19g.11105372A>GCA404076612LDLRc.724A>G (p.Asn242Asp)
c.466A>G (p.Asn156Asp)
c.720A>G
c.314-2020A>G (n.314-2020A>G)
c.343A>G (p.Asn115Asp)
c.314-1193A>G (n.314-1193A>G)
c.66A>G
n.616A>G
n.583A>G
19g.11105372A>TCA404076617LDLRc.724A>T (p.Asn242Tyr)
c.466A>T (p.Asn156Tyr)
c.720A>T
c.314-2020A>T (n.314-2020A>T)
c.343A>T (p.Asn115Tyr)
c.314-1193A>T (n.314-1193A>T)
c.66A>T
n.616A>T
n.583A>T
19g.11105373delCA10654845LDLRc.725del (p.Asn242ThrfsTer?)
c.467del (p.Asn156ThrfsTer?)
c.721del
c.314-2019del (n.314-2019del)
c.344del (p.Asn115ThrfsTer?)
c.314-1192del (n.314-1192del)
c.67del
n.617del
n.584del
 ClinVar dbSNP
19g.11105372_11105374delinsGACA2497030117LDLRc.724_726delinsGA (p.Asn242GlufsTer?)
c.466_468delinsGA (p.Asn156GlufsTer?)
c.720_722delinsGA
c.314-2020_314-2018delinsGA (n.314-2020_314-2018delinsGA)
c.343_345delinsGA (p.Asn115GlufsTer?)
c.314-1193_314-1191delinsGA (n.314-1193_314-1191delinsGA)
c.66_68delinsGA
n.616_618delinsGA
n.583_585delinsGA
19g.11105373A>CCA404076620LDLRc.725A>C (p.Asn242Thr)
c.467A>C (p.Asn156Thr)
c.721A>C
c.314-2019A>C (n.314-2019A>C)
c.344A>C (p.Asn115Thr)
c.314-1192A>C (n.314-1192A>C)
c.67A>C
n.617A>C
n.584A>C
19g.11105373A>GCA404076624LDLRc.725A>G (p.Asn242Ser)
c.467A>G (p.Asn156Ser)
c.721A>G
c.314-2019A>G (n.314-2019A>G)
c.344A>G (p.Asn115Ser)
c.314-1192A>G (n.314-1192A>G)
c.67A>G
n.617A>G
n.584A>G
19g.11105373A>TCA404076627LDLRc.725A>T (p.Asn242Ile)
c.467A>T (p.Asn156Ile)
c.721A>T
c.314-2019A>T (n.314-2019A>T)
c.344A>T (p.Asn115Ile)
c.314-1192A>T (n.314-1192A>T)
c.67A>T
n.617A>T
n.584A>T
19g.11105374C>ACA404076630LDLRc.726C>A (p.Asn242Lys)
c.468C>A (p.Asn156Lys)
c.722C>A
c.314-2018C>A (n.314-2018C>A)
c.345C>A (p.Asn115Lys)
c.314-1191C>A (n.314-1191C>A)
c.68C>A
n.618C>A
n.585C>A
19g.11105374C=CA2322767407LDLRc.726C= (p.Asn242=)
c.468C= (p.Asn156=)
c.722C=
c.314-2018C= (n.314-2018C=)
c.345C= (p.Asn115=)
c.314-1191C= (n.314-1191C=)
c.68C=
n.618C=
n.585C=
19g.11105374C>GCA404076631LDLRc.726C>G (p.Asn242Lys)
c.468C>G (p.Asn156Lys)
c.722C>G
c.314-2018C>G (n.314-2018C>G)
c.345C>G (p.Asn115Lys)
c.314-1191C>G (n.314-1191C>G)
c.68C>G
n.618C>G
n.585C>G
19g.11105374C>TCA505743139LDLRc.726C>T (p.Asn242=)
c.468C>T (p.Asn156=)
c.722C>T
c.314-2018C>T (n.314-2018C>T)
c.345C>T (p.Asn115=)
c.314-1191C>T (n.314-1191C>T)
c.68C>T
n.618C>T
n.585C>T
19g.11105375A>CCA404076636LDLRc.727A>C (p.Ser243Arg)
c.469A>C (p.Ser157Arg)
c.723A>C
c.314-2017A>C (n.314-2017A>C)
c.346A>C (p.Ser116Arg)
c.314-1190A>C (n.314-1190A>C)
c.69A>C
n.619A>C
n.586A>C
19g.11105375A>GCA404076632LDLRc.727A>G (p.Ser243Gly)
c.469A>G (p.Ser157Gly)
c.723A>G
c.314-2017A>G (n.314-2017A>G)
c.346A>G (p.Ser116Gly)
c.314-1190A>G (n.314-1190A>G)
c.69A>G
n.619A>G
n.586A>G
19g.11105375A>TCA404076634LDLRc.727A>T (p.Ser243Cys)
c.469A>T (p.Ser157Cys)
c.723A>T
c.314-2017A>T (n.314-2017A>T)
c.346A>T (p.Ser116Cys)
c.314-1190A>T (n.314-1190A>T)
c.69A>T
n.619A>T
n.586A>T
19g.11105375_11105376dupCA916081227LDLRc.727_728dup (p.Ser243ArgfsTer?)
c.469_470dup (p.Ser157ArgfsTer?)
c.723_724dup
c.314-2017_314-2016dup (n.314-2017_314-2016dup)
c.346_347dup (p.Ser116ArgfsTer?)
c.314-1190_314-1189dup (n.314-1190_314-1189dup)
c.69_70dup
n.619_620dup
n.586_587dup
 ClinVar dbSNP
19g.11105376G>ACA404076641LDLRc.728G>A (p.Ser243Asn)
c.470G>A (p.Ser157Asn)
c.724G>A
c.314-2016G>A (n.314-2016G>A)
c.347G>A (p.Ser116Asn)
c.314-1189G>A (n.314-1189G>A)
c.70G>A
n.620G>A
n.587G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105376G>CCA404076643LDLRc.728G>C (p.Ser243Thr)
c.470G>C (p.Ser157Thr)
c.724G>C
c.314-2016G>C (n.314-2016G>C)
c.347G>C (p.Ser116Thr)
c.314-1189G>C (n.314-1189G>C)
c.70G>C
n.620G>C
n.587G>C
19g.11105376G=CA2322767408LDLRc.728G= (p.Ser243=)
c.470G= (p.Ser157=)
c.724G=
c.314-2016G= (n.314-2016G=)
c.347G= (p.Ser116=)
c.314-1189G= (n.314-1189G=)
c.70G=
n.620G=
n.587G=
19g.11105376G>TCA404076645LDLRc.728G>T (p.Ser243Ile)
c.470G>T (p.Ser157Ile)
c.724G>T
c.314-2016G>T (n.314-2016G>T)
c.347G>T (p.Ser116Ile)
c.314-1189G>T (n.314-1189G>T)
c.70G>T
n.620G>T
n.587G>T
19g.11105377C>ACA404076648LDLRc.729C>A (p.Ser243Arg)
c.471C>A (p.Ser157Arg)
c.725C>A
c.314-2015C>A (n.314-2015C>A)
c.348C>A (p.Ser116Arg)
c.314-1188C>A (n.314-1188C>A)
c.71C>A
n.621C>A
n.588C>A
19g.11105377C>GCA404076651LDLRc.729C>G (p.Ser243Arg)
c.471C>G (p.Ser157Arg)
c.725C>G
c.314-2015C>G (n.314-2015C>G)
c.348C>G (p.Ser116Arg)
c.314-1188C>G (n.314-1188C>G)
c.71C>G
n.621C>G
n.588C>G
19g.11105377C>TCA505743143LDLRc.729C>T (p.Ser243=)
c.471C>T (p.Ser157=)
c.725C>T
c.314-2015C>T (n.314-2015C>T)
c.348C>T (p.Ser116=)
c.314-1188C>T (n.314-1188C>T)
c.71C>T
n.621C>T
n.588C>T
19g.11105377_11105378delinsCTCA2322767409LDLRc.729_730delinsCT (p.Ser243=)
c.471_472delinsCT (p.Ser157=)
c.725_726delinsCT
c.314-2015_314-2014delinsCT (n.314-2015_314-2014delinsCT)
c.348_349delinsCT (p.Ser116=)
c.314-1188_314-1187delinsCT (n.314-1188_314-1187delinsCT)
c.71_72delinsCT
n.621_622delinsCT
n.588_589delinsCT
19g.11105378delCA10584936LDLRc.730del (p.Ser244ProfsTer?)
c.472del (p.Ser158ProfsTer?)
c.726del
c.314-2014del (n.314-2014del)
c.349del (p.Ser117ProfsTer?)
c.314-1187del (n.314-1187del)
c.72del
n.622del
n.589del
 ClinVar dbSNP
19g.11105378T>ACA404076663LDLRc.730T>A (p.Ser244Thr)
c.472T>A (p.Ser158Thr)
c.726T>A
c.314-2014T>A (n.314-2014T>A)
c.349T>A (p.Ser117Thr)
c.314-1187T>A (n.314-1187T>A)
c.72T>A
n.622T>A
n.589T>A
19g.11105378T>CCA404076656LDLRc.730T>C (p.Ser244Pro)
c.472T>C (p.Ser158Pro)
c.726T>C
c.314-2014T>C (n.314-2014T>C)
c.349T>C (p.Ser117Pro)
c.314-1187T>C (n.314-1187T>C)
c.72T>C
n.622T>C
n.589T>C
19g.11105378T>GCA404076660LDLRc.730T>G (p.Ser244Ala)
c.472T>G (p.Ser158Ala)
c.726T>G
c.314-2014T>G (n.314-2014T>G)
c.349T>G (p.Ser117Ala)
c.314-1187T>G (n.314-1187T>G)
c.72T>G
n.622T>G
n.589T>G
19g.11105379C>ACA404076667LDLRc.731C>A (p.Ser244Tyr)
c.473C>A (p.Ser158Tyr)
c.727C>A
c.314-2013C>A (n.314-2013C>A)
c.350C>A (p.Ser117Tyr)
c.314-1186C>A (n.314-1186C>A)
c.73C>A
n.623C>A
n.590C>A
19g.11105379C=CA2322767410LDLRc.731C= (p.Ser244=)
c.473C= (p.Ser158=)
c.727C=
c.314-2013C= (n.314-2013C=)
c.350C= (p.Ser117=)
c.314-1186C= (n.314-1186C=)
c.73C=
n.623C=
n.590C=
19g.11105379C>GCA10584937LDLRc.731C>G (p.Ser244Cys)
c.473C>G (p.Ser158Cys)
c.727C>G
c.314-2013C>G (n.314-2013C>G)
c.350C>G (p.Ser117Cys)
c.314-1186C>G (n.314-1186C>G)
c.73C>G
n.623C>G
n.590C>G
 ClinVar dbSNP
19g.11105379C>TCA305296813LDLRc.731C>T (p.Ser244Phe)
c.473C>T (p.Ser158Phe)
c.727C>T
c.314-2013C>T (n.314-2013C>T)
c.350C>T (p.Ser117Phe)
c.314-1186C>T (n.314-1186C>T)
c.73C>T
n.623C>T
n.590C>T
 dbSNP gnomAD v4
19g.11105380C>ACA505743148LDLRc.732C>A (p.Ser244=)
c.474C>A (p.Ser158=)
c.728C>A
c.314-2012C>A (n.314-2012C>A)
c.351C>A (p.Ser117=)
c.314-1185C>A (n.314-1185C>A)
c.74C>A
n.624C>A
n.591C>A
19g.11105380C>GCA505743150LDLRc.732C>G (p.Ser244=)
c.474C>G (p.Ser158=)
c.728C>G
c.314-2012C>G (n.314-2012C>G)
c.351C>G (p.Ser117=)
c.314-1185C>G (n.314-1185C>G)
c.74C>G
n.624C>G
n.591C>G
19g.11105380C>TCA505743151LDLRc.732C>T (p.Ser244=)
c.474C>T (p.Ser158=)
c.728C>T
c.314-2012C>T (n.314-2012C>T)
c.351C>T (p.Ser117=)
c.314-1185C>T (n.314-1185C>T)
c.74C>T
n.624C>T
n.591C>T
 ClinVar dbSNP
19g.11105381A=CA2322767411LDLRc.733A= (p.Thr245=)
c.475A= (p.Thr159=)
c.729A=
c.314-2011A= (n.314-2011A=)
c.352A= (p.Thr118=)
c.314-1184A= (n.314-1184A=)
c.75A=
n.625A=
n.592A=
19g.11105381A>CCA404076678LDLRc.733A>C (p.Thr245Pro)
c.475A>C (p.Thr159Pro)
c.729A>C
c.314-2011A>C (n.314-2011A>C)
c.352A>C (p.Thr118Pro)
c.314-1184A>C (n.314-1184A>C)
c.75A>C
n.625A>C
n.592A>C
19g.11105381A>GCA404076681LDLRc.733A>G (p.Thr245Ala)
c.475A>G (p.Thr159Ala)
c.729A>G
c.314-2011A>G (n.314-2011A>G)
c.352A>G (p.Thr118Ala)
c.314-1184A>G (n.314-1184A>G)
c.75A>G
n.625A>G
n.592A>G
19g.11105381A>TCA404076684LDLRc.733A>T (p.Thr245Ser)
c.475A>T (p.Thr159Ser)
c.729A>T
c.314-2011A>T (n.314-2011A>T)
c.352A>T (p.Thr118Ser)
c.314-1184A>T (n.314-1184A>T)
c.75A>T
n.625A>T
n.592A>T
 dbSNP
19g.11105382C>ACA404076688LDLRc.734C>A (p.Thr245Asn)
c.476C>A (p.Thr159Asn)
c.730C>A
c.314-2010C>A (n.314-2010C>A)
c.353C>A (p.Thr118Asn)
c.314-1183C>A (n.314-1183C>A)
c.76C>A
n.626C>A
n.593C>A
 gnomAD v4
19g.11105382C=CA2322767412LDLRc.734C= (p.Thr245=)
c.476C= (p.Thr159=)
c.730C=
c.314-2010C= (n.314-2010C=)
c.353C= (p.Thr118=)
c.314-1183C= (n.314-1183C=)
c.76C=
n.626C=
n.593C=
19g.11105382C>GCA404076692LDLRc.734C>G (p.Thr245Ser)
c.476C>G (p.Thr159Ser)
c.730C>G
c.314-2010C>G (n.314-2010C>G)
c.353C>G (p.Thr118Ser)
c.314-1183C>G (n.314-1183C>G)
c.76C>G
n.626C>G
n.593C>G
19g.11105382C>TCA10584938LDLRc.734C>T (p.Thr245Ile)
c.476C>T (p.Thr159Ile)
c.730C>T
c.314-2010C>T (n.314-2010C>T)
c.353C>T (p.Thr118Ile)
c.314-1183C>T (n.314-1183C>T)
c.76C>T
n.626C>T
n.593C>T
 ClinVar dbSNP
19g.11105384_11105392delCA2497030118LDLRc.736_744del (p.Cys246_Pro248del)
c.478_486del (p.Cys160_Pro162del)
c.732_740del
c.314-2008_314-2000del (n.314-2008_314-2000del)
c.355_363del (p.Cys119_Pro121del)
c.314-1181_314-1173del (n.314-1181_314-1173del)
c.78_86del
n.628_636del
n.595_603del
19g.11105383C>ACA505743155LDLRc.735C>A (p.Thr245=)
c.477C>A (p.Thr159=)
c.731C>A
c.314-2009C>A (n.314-2009C>A)
c.354C>A (p.Thr118=)
c.314-1182C>A (n.314-1182C>A)
c.77C>A
n.627C>A
n.594C>A
 ClinVar dbSNP
19g.11105383C=CA2322767413LDLRc.735C= (p.Thr245=)
c.477C= (p.Thr159=)
c.731C=
c.314-2009C= (n.314-2009C=)
c.354C= (p.Thr118=)
c.314-1182C= (n.314-1182C=)
c.77C=
n.627C=
n.594C=
19g.11105383C>GCA505743156LDLRc.735C>G (p.Thr245=)
c.477C>G (p.Thr159=)
c.731C>G
c.314-2009C>G (n.314-2009C>G)
c.354C>G (p.Thr118=)
c.314-1182C>G (n.314-1182C>G)
c.77C>G
n.627C>G
n.594C>G
 ClinVar
19g.11105383C>TCA505743157LDLRc.735C>T (p.Thr245=)
c.477C>T (p.Thr159=)
c.731C>T
c.314-2009C>T (n.314-2009C>T)
c.354C>T (p.Thr118=)
c.314-1182C>T (n.314-1182C>T)
c.77C>T
n.627C>T
n.594C>T
 ClinVar dbSNP
19g.11105386_11105398delCA2697556252LDLRc.738_750del (p.Ile247GlyfsTer?)
c.480_492del (p.Ile161GlyfsTer?)
c.734_746del
c.314-2006_314-1994del (n.314-2006_314-1994del)
c.357_369del (p.Ile120GlyfsTer?)
c.314-1179_314-1167del (n.314-1179_314-1167del)
c.80_92del
n.630_642del
n.597_609del
 ClinVar
19g.11105384T>ACA404076699LDLRc.736T>A (p.Cys246Ser)
c.478T>A (p.Cys160Ser)
c.732T>A
c.314-2008T>A (n.314-2008T>A)
c.355T>A (p.Cys119Ser)
c.314-1181T>A (n.314-1181T>A)
c.78T>A
n.628T>A
n.595T>A
 ClinVar dbSNP
19g.11105384T>CCA10584939LDLRc.736T>C (p.Cys246Arg)
c.478T>C (p.Cys160Arg)
c.732T>C
c.314-2008T>C (n.314-2008T>C)
c.355T>C (p.Cys119Arg)
c.314-1181T>C (n.314-1181T>C)
c.78T>C
n.628T>C
n.595T>C
 ClinVar dbSNP
19g.11105384T>GCA10584940LDLRc.736T>G (p.Cys246Gly)
c.478T>G (p.Cys160Gly)
c.732T>G
c.314-2008T>G (n.314-2008T>G)
c.355T>G (p.Cys119Gly)
c.314-1181T>G (n.314-1181T>G)
c.78T>G
n.628T>G
n.595T>G
 ClinVar dbSNP
19g.11105384T=CA2322767414LDLRc.736T= (p.Cys246=)
c.478T= (p.Cys160=)
c.732T=
c.314-2008T= (n.314-2008T=)
c.355T= (p.Cys119=)
c.314-1181T= (n.314-1181T=)
c.78T=
n.628T=
n.595T=
19g.11105385G>ACA10584941LDLRc.737G>A (p.Cys246Tyr)
c.479G>A (p.Cys160Tyr)
c.733G>A
c.314-2007G>A (n.314-2007G>A)
c.356G>A (p.Cys119Tyr)
c.314-1180G>A (n.314-1180G>A)
c.79G>A
n.629G>A
n.596G>A
 ClinVar dbSNP
19g.11105385G>CCA404076709LDLRc.737G>C (p.Cys246Ser)
c.479G>C (p.Cys160Ser)
c.733G>C
c.314-2007G>C (n.314-2007G>C)
c.356G>C (p.Cys119Ser)
c.314-1180G>C (n.314-1180G>C)
c.79G>C
n.629G>C
n.596G>C
19g.11105385G=CA2322767415LDLRc.737G= (p.Cys246=)
c.479G= (p.Cys160=)
c.733G=
c.314-2007G= (n.314-2007G=)
c.356G= (p.Cys119=)
c.314-1180G= (n.314-1180G=)
c.79G=
n.629G=
n.596G=
19g.11105385G>TCA404076712LDLRc.737G>T (p.Cys246Phe)
c.479G>T (p.Cys160Phe)
c.733G>T
c.314-2007G>T (n.314-2007G>T)
c.356G>T (p.Cys119Phe)
c.314-1180G>T (n.314-1180G>T)
c.79G>T
n.629G>T
n.596G>T
 ClinVar dbSNP
19g.11105385_11105386delinsGCCA2322767416LDLRc.737_738delinsGC (p.Cys246=)
c.479_480delinsGC (p.Cys160=)
c.733_734delinsGC
c.314-2007_314-2006delinsGC (n.314-2007_314-2006delinsGC)
c.356_357delinsGC (p.Cys119=)
c.314-1180_314-1179delinsGC (n.314-1180_314-1179delinsGC)
c.79_80delinsGC
n.629_630delinsGC
n.596_597delinsGC
19g.11105385_11105386delinsTTCA645373224LDLRc.737_738delinsTT (p.Cys246Phe)
c.479_480delinsTT (p.Cys160Phe)
c.733_734delinsTT
c.314-2007_314-2006delinsTT (n.314-2007_314-2006delinsTT)
c.356_357delinsTT (p.Cys119Phe)
c.314-1180_314-1179delinsTT (n.314-1180_314-1179delinsTT)
c.79_80delinsTT
n.629_630delinsTT
n.596_597delinsTT
 ClinVar dbSNP
19g.11105385_11105392delinsGCATCCCCCA2322767417LDLRc.737_744delinsGCATCCCC (p.Cys246=)
c.479_486delinsGCATCCCC (p.Cys160=)
c.733_740delinsGCATCCCC
c.314-2007_314-2000delinsGCATCCCC (n.314-2007_314-2000delinsGCATCCCC)
c.356_363delinsGCATCCCC (p.Cys119=)
c.314-1180_314-1173delinsGCATCCCC (n.314-1180_314-1173delinsGCATCCCC)
c.79_86delinsGCATCCCC
n.629_636delinsGCATCCCC
n.596_603delinsGCATCCCC
19g.11105386C>ACA404076719LDLRc.738C>A (p.Cys246Ter)
c.480C>A (p.Cys160Ter)
c.734C>A
c.314-2006C>A (n.314-2006C>A)
c.357C>A (p.Cys119Ter)
c.314-1179C>A (n.314-1179C>A)
c.80C>A
n.630C>A
n.597C>A
19g.11105386C=CA2322767418LDLRc.738C= (p.Cys246=)
c.480C= (p.Cys160=)
c.734C=
c.314-2006C= (n.314-2006C=)
c.357C= (p.Cys119=)
c.314-1179C= (n.314-1179C=)
c.80C=
n.630C=
n.597C=
19g.11105386C>GCA404076721LDLRc.738C>G (p.Cys246Trp)
c.480C>G (p.Cys160Trp)
c.734C>G
c.314-2006C>G (n.314-2006C>G)
c.357C>G (p.Cys119Trp)
c.314-1179C>G (n.314-1179C>G)
c.80C>G
n.630C>G
n.597C>G
19g.11105386C>TCA043673LDLRc.738C>T (p.Cys246=)
c.480C>T (p.Cys160=)
c.734C>T
c.314-2006C>T (n.314-2006C>T)
c.357C>T (p.Cys119=)
c.314-1179C>T (n.314-1179C>T)
c.80C>T
n.630C>T
n.597C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105388_11105394delCA10584942LDLRc.740_746del (p.Ile247SerfsTer?)
c.482_488del (p.Ile161SerfsTer?)
c.736_742del
c.314-2004_314-1998del (n.314-2004_314-1998del)
c.359_365del (p.Ile120SerfsTer?)
c.314-1177_314-1171del (n.314-1177_314-1171del)
c.82_88del
n.632_638del
n.599_605del
 ClinVar dbSNP
19g.11105387A>CCA404076730LDLRc.739A>C (p.Ile247Leu)
c.481A>C (p.Ile161Leu)
c.735A>C
c.314-2005A>C (n.314-2005A>C)
c.358A>C (p.Ile120Leu)
c.314-1178A>C (n.314-1178A>C)
c.81A>C
n.631A>C
n.598A>C
 gnomAD v4
19g.11105387A>GCA404076732LDLRc.739A>G (p.Ile247Val)
c.481A>G (p.Ile161Val)
c.735A>G
c.314-2005A>G (n.314-2005A>G)
c.358A>G (p.Ile120Val)
c.314-1178A>G (n.314-1178A>G)
c.81A>G
n.631A>G
n.598A>G
19g.11105387A>TCA404076735LDLRc.739A>T (p.Ile247Phe)
c.481A>T (p.Ile161Phe)
c.735A>T
c.314-2005A>T (n.314-2005A>T)
c.358A>T (p.Ile120Phe)
c.314-1178A>T (n.314-1178A>T)
c.81A>T
n.631A>T
n.598A>T
19g.11105388T>ACA043692LDLRc.740T>A (p.Ile247Asn)
c.482T>A (p.Ile161Asn)
c.736T>A
c.314-2004T>A (n.314-2004T>A)
c.359T>A (p.Ile120Asn)
c.314-1177T>A (n.314-1177T>A)
c.82T>A
n.632T>A
n.599T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105388T>CCA404076738LDLRc.740T>C (p.Ile247Thr)
c.482T>C (p.Ile161Thr)
c.736T>C
c.314-2004T>C (n.314-2004T>C)
c.359T>C (p.Ile120Thr)
c.314-1177T>C (n.314-1177T>C)
c.82T>C
n.632T>C
n.599T>C
 ClinVar dbSNP
19g.11105388T>GCA404076740LDLRc.740T>G (p.Ile247Ser)
c.482T>G (p.Ile161Ser)
c.736T>G
c.314-2004T>G (n.314-2004T>G)
c.359T>G (p.Ile120Ser)
c.314-1177T>G (n.314-1177T>G)
c.82T>G
n.632T>G
n.599T>G
19g.11105388T=CA2322767419LDLRc.740T= (p.Ile247=)
c.482T= (p.Ile161=)
c.736T=
c.314-2004T= (n.314-2004T=)
c.359T= (p.Ile120=)
c.314-1177T= (n.314-1177T=)
c.82T=
n.632T=
n.599T=
19g.11105389C>ACA305296819LDLRc.741C>A (p.Ile247=)
c.483C>A (p.Ile161=)
c.737C>A
c.314-2003C>A (n.314-2003C>A)
c.360C>A (p.Ile120=)
c.314-1176C>A (n.314-1176C>A)
c.83C>A
n.633C>A
n.600C>A
 ClinVar dbSNP gnomAD v4
19g.11105389C=CA2322767420LDLRc.741C= (p.Ile247=)
c.483C= (p.Ile161=)
c.737C=
c.314-2003C= (n.314-2003C=)
c.360C= (p.Ile120=)
c.314-1176C= (n.314-1176C=)
c.83C=
n.633C=
n.600C=
19g.11105389C>GCA404076743LDLRc.741C>G (p.Ile247Met)
c.483C>G (p.Ile161Met)
c.737C>G
c.314-2003C>G (n.314-2003C>G)
c.360C>G (p.Ile120Met)
c.314-1176C>G (n.314-1176C>G)
c.83C>G
n.633C>G
n.600C>G
19g.11105389C>TCA505743163LDLRc.741C>T (p.Ile247=)
c.483C>T (p.Ile161=)
c.737C>T
c.314-2003C>T (n.314-2003C>T)
c.360C>T (p.Ile120=)
c.314-1176C>T (n.314-1176C>T)
c.83C>T
n.633C>T
n.600C>T
 ClinVar
19g.11105393delCA645617878LDLRc.745del (p.Gln249SerfsTer?)
c.487del (p.Gln163SerfsTer?)
c.741del
c.314-1999del (n.314-1999del)
c.364del (p.Gln122SerfsTer?)
c.314-1172del (n.314-1172del)
c.87del
n.637del
n.604del
 COSMIC
19g.11105390_11105396delCA2573050573LDLRc.742_748del (p.Pro248CysfsTer?)
c.484_490del (p.Pro162CysfsTer?)
c.738_744del
c.314-2002_314-1996del (n.314-2002_314-1996del)
c.361_367del (p.Pro121CysfsTer?)
c.314-1175_314-1169del (n.314-1175_314-1169del)
c.84_90del
n.634_640del
n.601_607del
19g.11105390C>ACA404076745LDLRc.742C>A (p.Pro248Thr)
c.484C>A (p.Pro162Thr)
c.738C>A
c.314-2002C>A (n.314-2002C>A)
c.361C>A (p.Pro121Thr)
c.314-1175C>A (n.314-1175C>A)
c.84C>A
n.634C>A
n.601C>A
19g.11105390C=CA2322767421LDLRc.742C= (p.Pro248=)
c.484C= (p.Pro162=)
c.738C=
c.314-2002C= (n.314-2002C=)
c.361C= (p.Pro121=)
c.314-1175C= (n.314-1175C=)
c.84C=
n.634C=
n.601C=
19g.11105390C>GCA404076748LDLRc.742C>G (p.Pro248Ala)
c.484C>G (p.Pro162Ala)
c.738C>G
c.314-2002C>G (n.314-2002C>G)
c.361C>G (p.Pro121Ala)
c.314-1175C>G (n.314-1175C>G)
c.84C>G
n.634C>G
n.601C>G
19g.11105390C>TCA404076751LDLRc.742C>T (p.Pro248Ser)
c.484C>T (p.Pro162Ser)
c.738C>T
c.314-2002C>T (n.314-2002C>T)
c.361C>T (p.Pro121Ser)
c.314-1175C>T (n.314-1175C>T)
c.84C>T
n.634C>T
n.601C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105391_11105392insAACAGCTCCACCTGCATCCCA2573050574LDLRc.743_744insAACAGCTCCACCTGCATCC (p.Gln249ThrfsTer23)
c.485_486insAACAGCTCCACCTGCATCC (p.Gln163ThrfsTer23)
c.739_740insAACAGCTCCACCTGCATCC
c.314-2001_314-2000insAACAGCTCCACCTGCATCC (n.314-2001_314-2000insAACAGCTCCACCTGCATCC)
c.362_363insAACAGCTCCACCTGCATCC (p.Gln122ThrfsTer23)
c.314-1174_314-1173insAACAGCTCCACCTGCATCC (n.314-1174_314-1173insAACAGCTCCACCTGCATCC)
c.85_86insAACAGCTCCACCTGCATCC
n.635_636insAACAGCTCCACCTGCATCC
n.602_603insAACAGCTCCACCTGCATCC
19g.11105391C>ACA404076758LDLRc.743C>A (p.Pro248His)
c.485C>A (p.Pro162His)
c.739C>A
c.314-2001C>A (n.314-2001C>A)
c.362C>A (p.Pro121His)
c.314-1174C>A (n.314-1174C>A)
c.85C>A
n.635C>A
n.602C>A
19g.11105391C=CA2322767422LDLRc.743C= (p.Pro248=)
c.485C= (p.Pro162=)
c.739C=
c.314-2001C= (n.314-2001C=)
c.362C= (p.Pro121=)
c.314-1174C= (n.314-1174C=)
c.85C=
n.635C=
n.602C=
19g.11105391C>GCA404076755LDLRc.743C>G (p.Pro248Arg)
c.485C>G (p.Pro162Arg)
c.739C>G
c.314-2001C>G (n.314-2001C>G)
c.362C>G (p.Pro121Arg)
c.314-1174C>G (n.314-1174C>G)
c.85C>G
n.635C>G
n.602C>G
19g.11105391C>TCA10584943LDLRc.743C>T (p.Pro248Leu)
c.485C>T (p.Pro162Leu)
c.739C>T
c.314-2001C>T (n.314-2001C>T)
c.362C>T (p.Pro121Leu)
c.314-1174C>T (n.314-1174C>T)
c.85C>T
n.635C>T
n.602C>T
 ClinVar dbSNP gnomAD v4
19g.11105392C>ACA505743167LDLRc.744C>A (p.Pro248=)
c.486C>A (p.Pro162=)
c.740C>A
c.314-2000C>A (n.314-2000C>A)
c.363C>A (p.Pro121=)
c.314-1173C>A (n.314-1173C>A)
c.86C>A
n.636C>A
n.603C>A
19g.11105392C>GCA505743170LDLRc.744C>G (p.Pro248=)
c.486C>G (p.Pro162=)
c.740C>G
c.314-2000C>G (n.314-2000C>G)
c.363C>G (p.Pro121=)
c.314-1173C>G (n.314-1173C>G)
c.86C>G
n.636C>G
n.603C>G
19g.11105392C>TCA505743168LDLRc.744C>T (p.Pro248=)
c.486C>T (p.Pro162=)
c.740C>T
c.314-2000C>T (n.314-2000C>T)
c.363C>T (p.Pro121=)
c.314-1173C>T (n.314-1173C>T)
c.86C>T
n.636C>T
n.603C>T
19g.11105393C>ACA404076759LDLRc.745C>A (p.Gln249Lys)
c.487C>A (p.Gln163Lys)
c.741C>A
c.314-1999C>A (n.314-1999C>A)
c.364C>A (p.Gln122Lys)
c.314-1172C>A (n.314-1172C>A)
c.87C>A
n.637C>A
n.604C>A
19g.11105393C=CA2322767423LDLRc.745C= (p.Gln249=)
c.487C= (p.Gln163=)
c.741C=
c.314-1999C= (n.314-1999C=)
c.364C= (p.Gln122=)
c.314-1172C= (n.314-1172C=)
c.87C=
n.637C=
n.604C=
19g.11105393C>GCA404076760LDLRc.745C>G (p.Gln249Glu)
c.487C>G (p.Gln163Glu)
c.741C>G
c.314-1999C>G (n.314-1999C>G)
c.364C>G (p.Gln122Glu)
c.314-1172C>G (n.314-1172C>G)
c.87C>G
n.637C>G
n.604C>G
19g.11105393C>TCA404076762LDLRc.745C>T (p.Gln249Ter)
c.487C>T (p.Gln163Ter)
c.741C>T
c.314-1999C>T (n.314-1999C>T)
c.364C>T (p.Gln122Ter)
c.314-1172C>T (n.314-1172C>T)
c.87C>T
n.637C>T
n.604C>T
 ClinVar dbSNP
19g.11105394A>CCA404076764LDLRc.746A>C (p.Gln249Pro)
c.488A>C (p.Gln163Pro)
c.742A>C
c.314-1998A>C (n.314-1998A>C)
c.365A>C (p.Gln122Pro)
c.314-1171A>C (n.314-1171A>C)
c.88A>C
n.638A>C
n.605A>C
19g.11105394A>GCA404076767LDLRc.746A>G (p.Gln249Arg)
c.488A>G (p.Gln163Arg)
c.742A>G
c.314-1998A>G (n.314-1998A>G)
c.365A>G (p.Gln122Arg)
c.314-1171A>G (n.314-1171A>G)
c.88A>G
n.638A>G
n.605A>G
19g.11105394A>TCA404076769LDLRc.746A>T (p.Gln249Leu)
c.488A>T (p.Gln163Leu)
c.742A>T
c.314-1998A>T (n.314-1998A>T)
c.365A>T (p.Gln122Leu)
c.314-1171A>T (n.314-1171A>T)
c.88A>T
n.638A>T
n.605A>T
19g.11105394dupCA2695223202LDLRc.746dup (p.Leu250AlafsTer16)
c.488dup (p.Leu164AlafsTer16)
c.742dup
c.314-1998dup (n.314-1998dup)
c.365dup (p.Leu123AlafsTer16)
c.314-1171dup (n.314-1171dup)
c.88dup
n.638dup
n.605dup
19g.11105395G>ACA505743175LDLRc.747G>A (p.Gln249=)
c.489G>A (p.Gln163=)
c.743G>A
c.314-1997G>A (n.314-1997G>A)
c.366G>A (p.Gln122=)
c.314-1170G>A (n.314-1170G>A)
c.89G>A
n.639G>A
n.606G>A
19g.11105395G>CCA404076773LDLRc.747G>C (p.Gln249His)
c.489G>C (p.Gln163His)
c.743G>C
c.314-1997G>C (n.314-1997G>C)
c.366G>C (p.Gln122His)
c.314-1170G>C (n.314-1170G>C)
c.89G>C
n.639G>C
n.606G>C
19g.11105395G>TCA404076775LDLRc.747G>T (p.Gln249His)
c.489G>T (p.Gln163His)
c.743G>T
c.314-1997G>T (n.314-1997G>T)
c.366G>T (p.Gln122His)
c.314-1170G>T (n.314-1170G>T)
c.89G>T
n.639G>T
n.606G>T
19g.11105396C>ACA404076778LDLRc.748C>A (p.Leu250Met)
c.490C>A (p.Leu164Met)
c.744C>A
c.314-1996C>A (n.314-1996C>A)
c.367C>A (p.Leu123Met)
c.314-1169C>A (n.314-1169C>A)
c.90C>A
n.640C>A
n.607C>A
19g.11105396C=CA2322767424LDLRc.748C= (p.Leu250=)
c.490C= (p.Leu164=)
c.744C=
c.314-1996C= (n.314-1996C=)
c.367C= (p.Leu123=)
c.314-1169C= (n.314-1169C=)
c.90C=
n.640C=
n.607C=
19g.11105396C>GCA404076780LDLRc.748C>G (p.Leu250Val)
c.490C>G (p.Leu164Val)
c.744C>G
c.314-1996C>G (n.314-1996C>G)
c.367C>G (p.Leu123Val)
c.314-1169C>G (n.314-1169C>G)
c.90C>G
n.640C>G
n.607C>G
19g.11105396C>TCA505743176LDLRc.748C>T (p.Leu250=)
c.490C>T (p.Leu164=)
c.744C>T
c.314-1996C>T (n.314-1996C>T)
c.367C>T (p.Leu123=)
c.314-1169C>T (n.314-1169C>T)
c.90C>T
n.640C>T
n.607C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11105397T>ACA404076783LDLRc.749T>A (p.Leu250Gln)
c.491T>A (p.Leu164Gln)
c.745T>A
c.314-1995T>A (n.314-1995T>A)
c.368T>A (p.Leu123Gln)
c.314-1168T>A (n.314-1168T>A)
c.91T>A
n.641T>A
n.608T>A
19g.11105397T>CCA10584944LDLRc.749T>C (p.Leu250Pro)
c.491T>C (p.Leu164Pro)
c.745T>C
c.314-1995T>C (n.314-1995T>C)
c.368T>C (p.Leu123Pro)
c.314-1168T>C (n.314-1168T>C)
c.91T>C
n.641T>C
n.608T>C
 ClinVar dbSNP
19g.11105397T>GCA404076788LDLRc.749T>G (p.Leu250Arg)
c.491T>G (p.Leu164Arg)
c.745T>G
c.314-1995T>G (n.314-1995T>G)
c.368T>G (p.Leu123Arg)
c.314-1168T>G (n.314-1168T>G)
c.91T>G
n.641T>G
n.608T>G
19g.11105397T=CA2322767425LDLRc.749T= (p.Leu250=)
c.491T= (p.Leu164=)
c.745T=
c.314-1995T= (n.314-1995T=)
c.368T= (p.Leu123=)
c.314-1168T= (n.314-1168T=)
c.91T=
n.641T=
n.608T=
19g.11105398G>ACA505743177LDLRc.750G>A (p.Leu250=)
c.492G>A (p.Leu164=)
c.746G>A
c.314-1994G>A (n.314-1994G>A)
c.369G>A (p.Leu123=)
c.314-1167G>A (n.314-1167G>A)
c.92G>A
n.642G>A
n.609G>A
 dbSNP
19g.11105398G>CCA505743178LDLRc.750G>C (p.Leu250=)
c.492G>C (p.Leu164=)
c.746G>C
c.314-1994G>C (n.314-1994G>C)
c.369G>C (p.Leu123=)
c.314-1167G>C (n.314-1167G>C)
c.92G>C
n.642G>C
n.609G>C
19g.11105398G=CA2322767426LDLRc.750G= (p.Leu250=)
c.492G= (p.Leu164=)
c.746G=
c.314-1994G= (n.314-1994G=)
c.369G= (p.Leu123=)
c.314-1167G= (n.314-1167G=)
c.92G=
n.642G=
n.609G=
19g.11105398G>TCA505743179LDLRc.750G>T (p.Leu250=)
c.492G>T (p.Leu164=)
c.746G>T
c.314-1994G>T (n.314-1994G>T)
c.369G>T (p.Leu123=)
c.314-1167G>T (n.314-1167G>T)
c.92G>T
n.642G>T
n.609G>T
19g.11105399T>ACA404076797LDLRc.751T>A (p.Trp251Arg)
c.493T>A (p.Trp165Arg)
c.747T>A
c.314-1993T>A (n.314-1993T>A)
c.370T>A (p.Trp124Arg)
c.314-1166T>A (n.314-1166T>A)
c.93T>A
n.643T>A
n.610T>A
19g.11105399T>CCA404076793LDLRc.751T>C (p.Trp251Arg)
c.493T>C (p.Trp165Arg)
c.747T>C
c.314-1993T>C (n.314-1993T>C)
c.370T>C (p.Trp124Arg)
c.314-1166T>C (n.314-1166T>C)
c.93T>C
n.643T>C
n.610T>C
19g.11105399T>GCA10584945LDLRc.751T>G (p.Trp251Gly)
c.493T>G (p.Trp165Gly)
c.747T>G
c.314-1993T>G (n.314-1993T>G)
c.370T>G (p.Trp124Gly)
c.314-1166T>G (n.314-1166T>G)
c.93T>G
n.643T>G
n.610T>G
 ClinVar dbSNP
19g.11105399T=CA2322767427LDLRc.751T= (p.Trp251=)
c.493T= (p.Trp165=)
c.747T=
c.314-1993T= (n.314-1993T=)
c.370T= (p.Trp124=)
c.314-1166T= (n.314-1166T=)
c.93T=
n.643T=
n.610T=
19g.11105400G>ACA404076799LDLRc.752G>A (p.Trp251Ter)
c.494G>A (p.Trp165Ter)
c.748G>A
c.314-1992G>A (n.314-1992G>A)
c.371G>A (p.Trp124Ter)
c.314-1165G>A (n.314-1165G>A)
c.94G>A
n.644G>A
n.611G>A
 ClinVar
19g.11105400G>CCA404076800LDLRc.752G>C (p.Trp251Ser)
c.494G>C (p.Trp165Ser)
c.748G>C
c.314-1992G>C (n.314-1992G>C)
c.371G>C (p.Trp124Ser)
c.314-1165G>C (n.314-1165G>C)
c.94G>C
n.644G>C
n.611G>C
19g.11105400G=CA2322767428LDLRc.752G= (p.Trp251=)
c.494G= (p.Trp165=)
c.748G=
c.314-1992G= (n.314-1992G=)
c.371G= (p.Trp124=)
c.314-1165G= (n.314-1165G=)
c.94G=
n.644G=
n.611G=
19g.11105400G>TCA404076801LDLRc.752G>T (p.Trp251Leu)
c.494G>T (p.Trp165Leu)
c.748G>T
c.314-1992G>T (n.314-1992G>T)
c.371G>T (p.Trp124Leu)
c.314-1165G>T (n.314-1165G>T)
c.94G>T
n.644G>T
n.611G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105401G>ACA10584946LDLRc.753G>A (p.Trp251Ter)
c.495G>A (p.Trp165Ter)
c.749G>A
c.314-1991G>A (n.314-1991G>A)
c.372G>A (p.Trp124Ter)
c.314-1164G>A (n.314-1164G>A)
c.95G>A
n.645G>A
n.612G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105401G>CCA404076804LDLRc.753G>C (p.Trp251Cys)
c.495G>C (p.Trp165Cys)
c.749G>C
c.314-1991G>C (n.314-1991G>C)
c.372G>C (p.Trp124Cys)
c.314-1164G>C (n.314-1164G>C)
c.95G>C
n.645G>C
n.612G>C
19g.11105401G=CA2322767429LDLRc.753G= (p.Trp251=)
c.495G= (p.Trp165=)
c.749G=
c.314-1991G= (n.314-1991G=)
c.372G= (p.Trp124=)
c.314-1164G= (n.314-1164G=)
c.95G=
n.645G=
n.612G=
19g.11105401G>TCA404076807LDLRc.753G>T (p.Trp251Cys)
c.495G>T (p.Trp165Cys)
c.749G>T
c.314-1991G>T (n.314-1991G>T)
c.372G>T (p.Trp124Cys)
c.314-1164G>T (n.314-1164G>T)
c.95G>T
n.645G>T
n.612G>T
19g.11105402G>ACA404076810LDLRc.754G>A (p.Ala252Thr)
c.496G>A (p.Ala166Thr)
c.750G>A
c.314-1990G>A (n.314-1990G>A)
c.373G>A (p.Ala125Thr)
c.314-1163G>A (n.314-1163G>A)
c.96G>A
n.646G>A
n.613G>A
 ClinVar dbSNP
19g.11105402G>CCA404076813LDLRc.754G>C (p.Ala252Pro)
c.496G>C (p.Ala166Pro)
c.750G>C
c.314-1990G>C (n.314-1990G>C)
c.373G>C (p.Ala125Pro)
c.314-1163G>C (n.314-1163G>C)
c.96G>C
n.646G>C
n.613G>C
19g.11105402G=CA2322767430LDLRc.754G= (p.Ala252=)
c.496G= (p.Ala166=)
c.750G=
c.314-1990G= (n.314-1990G=)
c.373G= (p.Ala125=)
c.314-1163G= (n.314-1163G=)
c.96G=
n.646G=
n.613G=
19g.11105402G>TCA404076814LDLRc.754G>T (p.Ala252Ser)
c.496G>T (p.Ala166Ser)
c.750G>T
c.314-1990G>T (n.314-1990G>T)
c.373G>T (p.Ala125Ser)
c.314-1163G>T (n.314-1163G>T)
c.96G>T
n.646G>T
n.613G>T
 gnomAD v4
19g.11105403C>ACA404076815LDLRc.755C>A (p.Ala252Asp)
c.497C>A (p.Ala166Asp)
c.751C>A
c.314-1989C>A (n.314-1989C>A)
c.374C>A (p.Ala125Asp)
c.314-1162C>A (n.314-1162C>A)
c.97C>A
n.647C>A
n.614C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105403C=CA2322767431LDLRc.755C= (p.Ala252=)
c.497C= (p.Ala166=)
c.751C=
c.314-1989C= (n.314-1989C=)
c.374C= (p.Ala125=)
c.314-1162C= (n.314-1162C=)
c.97C=
n.647C=
n.614C=
19g.11105403C>GCA404076817LDLRc.755C>G (p.Ala252Gly)
c.497C>G (p.Ala166Gly)
c.751C>G
c.314-1989C>G (n.314-1989C>G)
c.374C>G (p.Ala125Gly)
c.314-1162C>G (n.314-1162C>G)
c.97C>G
n.647C>G
n.614C>G
19g.11105403C>TCA404076820LDLRc.755C>T (p.Ala252Val)
c.497C>T (p.Ala166Val)
c.751C>T
c.314-1989C>T (n.314-1989C>T)
c.374C>T (p.Ala125Val)
c.314-1162C>T (n.314-1162C>T)
c.97C>T
n.647C>T
n.614C>T
 gnomAD v4
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.11105404C>ACA505743184LDLRc.756C>A (p.Ala252=)
c.498C>A (p.Ala166=)
c.752C>A
c.314-1988C>A (n.314-1988C>A)
c.375C>A (p.Ala125=)
c.314-1161C>A (n.314-1161C>A)
c.98C>A
n.648C>A
n.615C>A
19g.11105404C=CA2322767432LDLRc.756C= (p.Ala252=)
c.498C= (p.Ala166=)
c.752C=
c.314-1988C= (n.314-1988C=)
c.375C= (p.Ala125=)
c.314-1161C= (n.314-1161C=)
c.98C=
n.648C=
n.615C=
19g.11105404C>GCA505743185LDLRc.756C>G (p.Ala252=)
c.498C>G (p.Ala166=)
c.752C>G
c.314-1988C>G (n.314-1988C>G)
c.375C>G (p.Ala125=)
c.314-1161C>G (n.314-1161C>G)
c.98C>G
n.648C>G
n.615C>G
 gnomAD v4
19g.11105404C>TCA043710LDLRc.756C>T (p.Ala252=)
c.498C>T (p.Ala166=)
c.752C>T
c.314-1988C>T (n.314-1988C>T)
c.375C>T (p.Ala125=)
c.314-1161C>T (n.314-1161C>T)
c.98C>T
n.648C>T
n.615C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.11105405T>ACA404076833LDLRc.757T>A (p.Cys253Ser)
c.499T>A (p.Cys167Ser)
c.753T>A
c.314-1987T>A (n.314-1987T>A)
c.376T>A (p.Cys126Ser)
c.314-1160T>A (n.314-1160T>A)
c.99T>A
n.649T>A
n.616T>A
19g.11105405T>CCA10584947LDLRc.757T>C (p.Cys253Arg)
c.499T>C (p.Cys167Arg)
c.753T>C
c.314-1987T>C (n.314-1987T>C)
c.376T>C (p.Cys126Arg)
c.314-1160T>C (n.314-1160T>C)
c.99T>C
n.649T>C
n.616T>C
 ClinVar dbSNP
19g.11105405T>GCA404076825LDLRc.757T>G (p.Cys253Gly)
c.499T>G (p.Cys167Gly)
c.753T>G
c.314-1987T>G (n.314-1987T>G)
c.376T>G (p.Cys126Gly)
c.314-1160T>G (n.314-1160T>G)
c.99T>G
n.649T>G
n.616T>G
19g.11105405T=CA2322767433LDLRc.757T= (p.Cys253=)
c.499T= (p.Cys167=)
c.753T=
c.314-1987T= (n.314-1987T=)
c.376T= (p.Cys126=)
c.314-1160T= (n.314-1160T=)
c.99T=
n.649T=
n.616T=
19g.11105406G>ACA10584948LDLRc.758G>A (p.Cys253Tyr)
c.500G>A (p.Cys167Tyr)
c.754G>A
c.314-1986G>A (n.314-1986G>A)
c.377G>A (p.Cys126Tyr)
c.314-1159G>A (n.314-1159G>A)
c.100G>A
n.650G>A
n.617G>A
 ClinVar dbSNP
19g.11105406G>CCA404076837LDLRc.758G>C (p.Cys253Ser)
c.500G>C (p.Cys167Ser)
c.754G>C
c.314-1986G>C (n.314-1986G>C)
c.377G>C (p.Cys126Ser)
c.314-1159G>C (n.314-1159G>C)
c.100G>C
n.650G>C
n.617G>C
 ClinVar dbSNP
19g.11105406G=CA2322767434LDLRc.758G= (p.Cys253=)
c.500G= (p.Cys167=)
c.754G=
c.314-1986G= (n.314-1986G=)
c.377G= (p.Cys126=)
c.314-1159G= (n.314-1159G=)
c.100G=
n.650G=
n.617G=
19g.11105406G>TCA404076839LDLRc.758G>T (p.Cys253Phe)
c.500G>T (p.Cys167Phe)
c.754G>T
c.314-1986G>T (n.314-1986G>T)
c.377G>T (p.Cys126Phe)
c.314-1159G>T (n.314-1159G>T)
c.100G>T
n.650G>T
n.617G>T
19g.11105407C>ACA023707LDLRc.759C>A (p.Cys253Ter)
c.501C>A (p.Cys167Ter)
c.755C>A
c.314-1985C>A (n.314-1985C>A)
c.378C>A (p.Cys126Ter)
c.314-1158C>A (n.314-1158C>A)
c.101C>A
n.651C>A
n.618C>A
 ClinVar dbSNP gnomAD v4
19g.11105407C=CA2322767435LDLRc.759C= (p.Cys253=)
c.501C= (p.Cys167=)
c.755C=
c.314-1985C= (n.314-1985C=)
c.378C= (p.Cys126=)
c.314-1158C= (n.314-1158C=)
c.101C=
n.651C=
n.618C=
19g.11105407C>GCA10584949LDLRc.759C>G (p.Cys253Trp)
c.501C>G (p.Cys167Trp)
c.755C>G
c.314-1985C>G (n.314-1985C>G)
c.378C>G (p.Cys126Trp)
c.314-1158C>G (n.314-1158C>G)
c.101C>G
n.651C>G
n.618C>G
 ClinVar dbSNP
19g.11105407C>TCA043722LDLRc.759C>T (p.Cys253=)
c.501C>T (p.Cys167=)
c.755C>T
c.314-1985C>T (n.314-1985C>T)
c.378C>T (p.Cys126=)
c.314-1158C>T (n.314-1158C>T)
c.101C>T
n.651C>T
n.618C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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=
19g.11105414G>TCA404076893LDLRc.766G>T (p.Asp256Tyr)
c.508G>T (p.Asp170Tyr)
c.762G>T
c.314-1978G>T (n.314-1978G>T)
c.385G>T (p.Asp129Tyr)
c.314-1151G>T (n.314-1151G>T)
c.108G>T
n.658G>T
n.625G>T
19g.11105414_11105415insCCA10584954LDLRc.766_767insC (p.Asp256AlafsTer10)
c.508_509insC (p.Asp170AlafsTer10)
c.762_763insC
c.314-1978_314-1977insC (n.314-1978_314-1977insC)
c.385_386insC (p.Asp129AlafsTer10)
c.314-1151_314-1150insC (n.314-1151_314-1150insC)
c.108_109insC
n.658_659insC
n.625_626insC
 ClinVar dbSNP
19g.11105415A=CA2322767444LDLRc.767A= (p.Asp256=)
c.509A= (p.Asp170=)
c.763A=
c.314-1977A= (n.314-1977A=)
c.386A= (p.Asp129=)
c.314-1150A= (n.314-1150A=)
c.109A=
n.659A=
n.626A=
19g.11105415A>CCA404076906LDLRc.767A>C (p.Asp256Ala)
c.509A>C (p.Asp170Ala)
c.763A>C
c.314-1977A>C (n.314-1977A>C)
c.386A>C (p.Asp129Ala)
c.314-1150A>C (n.314-1150A>C)
c.109A>C
n.659A>C
n.626A>C
19g.11105415A>GCA043784LDLRc.767A>G (p.Asp256Gly)
c.509A>G (p.Asp170Gly)
c.763A>G
c.314-1977A>G (n.314-1977A>G)
c.386A>G (p.Asp129Gly)
c.314-1150A>G (n.314-1150A>G)
c.109A>G
n.659A>G
n.626A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105415A>TCA404076912LDLRc.767A>T (p.Asp256Val)
c.509A>T (p.Asp170Val)
c.763A>T
c.314-1977A>T (n.314-1977A>T)
c.386A>T (p.Asp129Val)
c.314-1150A>T (n.314-1150A>T)
c.109A>T
n.659A>T
n.626A>T
19g.11105415_11105416delinsACCA2322767445LDLRc.767_768delinsAC (p.Asp256=)
c.509_510delinsAC (p.Asp170=)
c.763_764delinsAC
c.314-1977_314-1976delinsAC (n.314-1977_314-1976delinsAC)
c.386_387delinsAC (p.Asp129=)
c.314-1150_314-1149delinsAC (n.314-1150_314-1149delinsAC)
c.109_110delinsAC
n.659_660delinsAC
n.626_627delinsAC
19g.11105416C>ACA16609804LDLRc.768C>A (p.Asp256Glu)
c.510C>A (p.Asp170Glu)
c.764C>A
c.314-1976C>A (n.314-1976C>A)
c.387C>A (p.Asp129Glu)
c.314-1149C>A (n.314-1149C>A)
c.110C>A
n.660C>A
n.627C>A
 ClinVar dbSNP
19g.11105416C=CA2322767446LDLRc.768C= (p.Asp256=)
c.510C= (p.Asp170=)
c.764C=
c.314-1976C= (n.314-1976C=)
c.387C= (p.Asp129=)
c.314-1149C= (n.314-1149C=)
c.110C=
n.660C=
n.627C=
19g.11105416C>GCA404076916LDLRc.768C>G (p.Asp256Glu)
c.510C>G (p.Asp170Glu)
c.764C>G
c.314-1976C>G (n.314-1976C>G)
c.387C>G (p.Asp129Glu)
c.314-1149C>G (n.314-1149C>G)
c.110C>G
n.660C>G
n.627C>G
 gnomAD v4
19g.11105416C>TCA505743201LDLRc.768C>T (p.Asp256=)
c.510C>T (p.Asp170=)
c.764C>T
c.314-1976C>T (n.314-1976C>T)
c.387C>T (p.Asp129=)
c.314-1149C>T (n.314-1149C>T)
c.110C>T
n.660C>T
n.627C>T
 gnomAD v4
19g.11105419dupCA10584956LDLRc.771dup (p.Asp258ArgfsTer8)
c.513dup (p.Asp172ArgfsTer8)
c.767dup
c.314-1973dup (n.314-1973dup)
c.390dup (p.Asp131ArgfsTer8)
c.314-1146dup (n.314-1146dup)
c.113dup
n.663dup
n.630dup
 ClinVar dbSNP
19g.11105419delCA10584955LDLRc.771del (p.Asp258ThrfsTer?)
c.513del (p.Asp172ThrfsTer?)
c.767del
c.314-1973del (n.314-1973del)
c.390del (p.Asp131ThrfsTer?)
c.314-1146del (n.314-1146del)
c.113del
n.663del
n.630del
 ClinVar dbSNP gnomAD v4
19g.11105417C>ACA404076924LDLRc.769C>A (p.Pro257Thr)
c.511C>A (p.Pro171Thr)
c.765C>A
c.314-1975C>A (n.314-1975C>A)
c.388C>A (p.Pro130Thr)
c.314-1148C>A (n.314-1148C>A)
c.111C>A
n.661C>A
n.628C>A
 ClinVar dbSNP
19g.11105417C=CA2322767447LDLRc.769C= (p.Pro257=)
c.511C= (p.Pro171=)
c.765C=
c.314-1975C= (n.314-1975C=)
c.388C= (p.Pro130=)
c.314-1148C= (n.314-1148C=)
c.111C=
n.661C=
n.628C=
19g.11105417C>GCA404076929LDLRc.769C>G (p.Pro257Ala)
c.511C>G (p.Pro171Ala)
c.765C>G
c.314-1975C>G (n.314-1975C>G)
c.388C>G (p.Pro130Ala)
c.314-1148C>G (n.314-1148C>G)
c.111C>G
n.661C>G
n.628C>G
19g.11105417C>TCA404076926LDLRc.769C>T (p.Pro257Ser)
c.511C>T (p.Pro171Ser)
c.765C>T
c.314-1975C>T (n.314-1975C>T)
c.388C>T (p.Pro130Ser)
c.314-1148C>T (n.314-1148C>T)
c.111C>T
n.661C>T
n.628C>T
19g.11105418C>ACA404076930LDLRc.770C>A (p.Pro257His)
c.512C>A (p.Pro171His)
c.766C>A
c.314-1974C>A (n.314-1974C>A)
c.389C>A (p.Pro130His)
c.314-1147C>A (n.314-1147C>A)
c.112C>A
n.662C>A
n.629C>A
19g.11105418C=CA2322767448LDLRc.770C= (p.Pro257=)
c.512C= (p.Pro171=)
c.766C=
c.314-1974C= (n.314-1974C=)
c.389C= (p.Pro130=)
c.314-1147C= (n.314-1147C=)
c.112C=
n.662C=
n.629C=
19g.11105418C>GCA404076931LDLRc.770C>G (p.Pro257Arg)
c.512C>G (p.Pro171Arg)
c.766C>G
c.314-1974C>G (n.314-1974C>G)
c.389C>G (p.Pro130Arg)
c.314-1147C>G (n.314-1147C>G)
c.112C>G
n.662C>G
n.629C>G
19g.11105418C>TCA404076932LDLRc.770C>T (p.Pro257Leu)
c.512C>T (p.Pro171Leu)
c.766C>T
c.314-1974C>T (n.314-1974C>T)
c.389C>T (p.Pro130Leu)
c.314-1147C>T (n.314-1147C>T)
c.112C>T
n.662C>T
n.629C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105419C>ACA505743203LDLRc.771C>A (p.Pro257=)
c.513C>A (p.Pro171=)
c.767C>A
c.314-1973C>A (n.314-1973C>A)
c.390C>A (p.Pro130=)
c.314-1146C>A (n.314-1146C>A)
c.113C>A
n.663C>A
n.630C>A
 ClinVar
19g.11105419C=CA2322767449LDLRc.771C= (p.Pro257=)
c.513C= (p.Pro171=)
c.767C=
c.314-1973C= (n.314-1973C=)
c.390C= (p.Pro130=)
c.314-1146C= (n.314-1146C=)
c.113C=
n.663C=
n.630C=
19g.11105419C>GCA505743204LDLRc.771C>G (p.Pro257=)
c.513C>G (p.Pro171=)
c.767C>G
c.314-1973C>G (n.314-1973C>G)
c.390C>G (p.Pro130=)
c.314-1146C>G (n.314-1146C>G)
c.113C>G
n.663C>G
n.630C>G
19g.11105419C>TCA043796LDLRc.771C>T (p.Pro257=)
c.513C>T (p.Pro171=)
c.767C>T
c.314-1973C>T (n.314-1973C>T)
c.390C>T (p.Pro130=)
c.314-1146C>T (n.314-1146C>T)
c.113C>T
n.663C>T
n.630C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105420G>ACA10584957LDLRc.772G>A (p.Asp258Asn)
c.514G>A (p.Asp172Asn)
c.768G>A
c.314-1972G>A (n.314-1972G>A)
c.391G>A (p.Asp131Asn)
c.314-1145G>A (n.314-1145G>A)
c.114G>A
n.664G>A
n.631G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105420G>CCA10584958LDLRc.772G>C (p.Asp258His)
c.514G>C (p.Asp172His)
c.768G>C
c.314-1972G>C (n.314-1972G>C)
c.391G>C (p.Asp131His)
c.314-1145G>C (n.314-1145G>C)
c.114G>C
n.664G>C
n.631G>C
 ClinVar dbSNP gnomAD v4
19g.11105420G=CA2322767450LDLRc.772G= (p.Asp258=)
c.514G= (p.Asp172=)
c.768G=
c.314-1972G= (n.314-1972G=)
c.391G= (p.Asp131=)
c.314-1145G= (n.314-1145G=)
c.114G=
n.664G=
n.631G=
19g.11105420G>TCA10584959LDLRc.772G>T (p.Asp258Tyr)
c.514G>T (p.Asp172Tyr)
c.768G>T
c.314-1972G>T (n.314-1972G>T)
c.391G>T (p.Asp131Tyr)
c.314-1145G>T (n.314-1145G>T)
c.114G>T
n.664G>T
n.631G>T
 ClinVar dbSNP gnomAD v4
19g.11105422_11105430dupCA10584962LDLRc.774_782dup (p.Asp261_Gly262insCysGluAsp)
c.516_524dup (p.Asp175_Gly176insCysGluAsp)
c.770_778dup
c.314-1970_314-1962dup (n.314-1970_314-1962dup)
c.393_401dup (p.Asp134_Gly135insCysGluAsp)
c.314-1143_314-1135dup (n.314-1143_314-1135dup)
c.116_124dup
n.666_674dup
n.633_641dup
 ClinVar dbSNP
19g.11105421A=CA2322767451LDLRc.773A= (p.Asp258=)
c.515A= (p.Asp172=)
c.769A=
c.314-1971A= (n.314-1971A=)
c.392A= (p.Asp131=)
c.314-1144A= (n.314-1144A=)
c.115A=
n.665A=
n.632A=
19g.11105421A>CCA404076938LDLRc.773A>C (p.Asp258Ala)
c.515A>C (p.Asp172Ala)
c.769A>C
c.314-1971A>C (n.314-1971A>C)
c.392A>C (p.Asp131Ala)
c.314-1144A>C (n.314-1144A>C)
c.115A>C
n.665A>C
n.632A>C
 ClinVar
19g.11105421A>GCA10584960LDLRc.773A>G (p.Asp258Gly)
c.515A>G (p.Asp172Gly)
c.769A>G
c.314-1971A>G (n.314-1971A>G)
c.392A>G (p.Asp131Gly)
c.314-1144A>G (n.314-1144A>G)
c.115A>G
n.665A>G
n.632A>G
 ClinVar dbSNP
19g.11105421A>TCA404076942LDLRc.773A>T (p.Asp258Val)
c.515A>T (p.Asp172Val)
c.769A>T
c.314-1971A>T (n.314-1971A>T)
c.392A>T (p.Asp131Val)
c.314-1144A>T (n.314-1144A>T)
c.115A>T
n.665A>T
n.632A>T
19g.11105421_11105422delinsTTCA2580612602LDLRc.773_774delinsTT (p.Asp258Val)
c.515_516delinsTT (p.Asp172Val)
c.769_770delinsTT
c.314-1971_314-1970delinsTT (n.314-1971_314-1970delinsTT)
c.392_393delinsTT (p.Asp131Val)
c.314-1144_314-1143delinsTT (n.314-1144_314-1143delinsTT)
c.115_116delinsTT
n.665_666delinsTT
n.632_633delinsTT
 ClinVar
19g.11105422C>ACA404076945LDLRc.774C>A (p.Asp258Glu)
c.516C>A (p.Asp172Glu)
c.770C>A
c.314-1970C>A (n.314-1970C>A)
c.393C>A (p.Asp131Glu)
c.314-1143C>A (n.314-1143C>A)
c.116C>A
n.666C>A
n.633C>A
19g.11105422C=CA2322767452LDLRc.774C= (p.Asp258=)
c.516C= (p.Asp172=)
c.770C=
c.314-1970C= (n.314-1970C=)
c.393C= (p.Asp131=)
c.314-1143C= (n.314-1143C=)
c.116C=
n.666C=
n.633C=
19g.11105422C>GCA10584961LDLRc.774C>G (p.Asp258Glu)
c.516C>G (p.Asp172Glu)
c.770C>G
c.314-1970C>G (n.314-1970C>G)
c.393C>G (p.Asp131Glu)
c.314-1143C>G (n.314-1143C>G)
c.116C>G
n.666C>G
n.633C>G
 ClinVar dbSNP
19g.11105422C>TCA505743211LDLRc.774C>T (p.Asp258=)
c.516C>T (p.Asp172=)
c.770C>T
c.314-1970C>T (n.314-1970C>T)
c.393C>T (p.Asp131=)
c.314-1143C>T (n.314-1143C>T)
c.116C>T
n.666C>T
n.633C>T
 COSMIC
19g.11105423T>ACA404076950LDLRc.775T>A (p.Cys259Ser)
c.517T>A (p.Cys173Ser)
c.771T>A
c.314-1969T>A (n.314-1969T>A)
c.394T>A (p.Cys132Ser)
c.314-1142T>A (n.314-1142T>A)
c.117T>A
n.667T>A
n.634T>A
19g.11105423T>CCA10584963LDLRc.775T>C (p.Cys259Arg)
c.517T>C (p.Cys173Arg)
c.771T>C
c.314-1969T>C (n.314-1969T>C)
c.394T>C (p.Cys132Arg)
c.314-1142T>C (n.314-1142T>C)
c.117T>C
n.667T>C
n.634T>C
 ClinVar dbSNP gnomAD v4
19g.11105423T>GCA10584964LDLRc.775T>G (p.Cys259Gly)
c.517T>G (p.Cys173Gly)
c.771T>G
c.314-1969T>G (n.314-1969T>G)
c.394T>G (p.Cys132Gly)
c.314-1142T>G (n.314-1142T>G)
c.117T>G
n.667T>G
n.634T>G
 ClinVar dbSNP
19g.11105423T=CA2322767455LDLRc.775T= (p.Cys259=)
c.517T= (p.Cys173=)
c.771T=
c.314-1969T= (n.314-1969T=)
c.394T= (p.Cys132=)
c.314-1142T= (n.314-1142T=)
c.117T=
n.667T=
n.634T=
19g.11105423_11105424delinsTGCA2322767454LDLRc.775_776delinsTG (p.Cys259=)
c.517_518delinsTG (p.Cys173=)
c.771_772delinsTG
c.314-1969_314-1968delinsTG (n.314-1969_314-1968delinsTG)
c.394_395delinsTG (p.Cys132=)
c.314-1142_314-1141delinsTG (n.314-1142_314-1141delinsTG)
c.117_118delinsTG
n.667_668delinsTG
n.634_635delinsTG
19g.11105423_11105437delinsTGCGAAGATGGCTCGCA2322767453LDLRc.775_789delinsTGCGAAGATGGCTCG (p.Cys259=)
c.517_531delinsTGCGAAGATGGCTCG (p.Cys173=)
c.771_785delinsTGCGAAGATGGCTCG
c.314-1969_314-1955delinsTGCGAAGATGGCTCG (n.314-1969_314-1955delinsTGCGAAGATGGCTCG)
c.394_408delinsTGCGAAGATGGCTCG (p.Cys132=)
c.314-1142_314-1128delinsTGCGAAGATGGCTCG (n.314-1142_314-1128delinsTGCGAAGATGGCTCG)
c.117_131delinsTGCGAAGATGGCTCG
n.667_681delinsTGCGAAGATGGCTCG
n.634_648delinsTGCGAAGATGGCTCG
19g.11105424delCA10584966LDLRc.776del (p.Cys259SerfsTer?)
c.518del (p.Cys173SerfsTer?)
c.772del
c.314-1968del (n.314-1968del)
c.395del (p.Cys132SerfsTer?)
c.314-1141del (n.314-1141del)
c.118del
n.668del
n.635del
 ClinVar dbSNP gnomAD v4
19g.11105424G>ACA10584965LDLRc.776G>A (p.Cys259Tyr)
c.518G>A (p.Cys173Tyr)
c.772G>A
c.314-1968G>A (n.314-1968G>A)
c.395G>A (p.Cys132Tyr)
c.314-1141G>A (n.314-1141G>A)
c.118G>A
n.668G>A
n.635G>A
 ClinVar dbSNP
19g.11105424G>CCA404076968LDLRc.776G>C (p.Cys259Ser)
c.518G>C (p.Cys173Ser)
c.772G>C
c.314-1968G>C (n.314-1968G>C)
c.395G>C (p.Cys132Ser)
c.314-1141G>C (n.314-1141G>C)
c.118G>C
n.668G>C
n.635G>C
 ClinVar dbSNP
19g.11105424G=CA2322767456LDLRc.776G= (p.Cys259=)
c.518G= (p.Cys173=)
c.772G=
c.314-1968G= (n.314-1968G=)
c.395G= (p.Cys132=)
c.314-1141G= (n.314-1141G=)
c.118G=
n.668G=
n.635G=
19g.11105424G>TCA404076971LDLRc.776G>T (p.Cys259Phe)
c.518G>T (p.Cys173Phe)
c.772G>T
c.314-1968G>T (n.314-1968G>T)
c.395G>T (p.Cys132Phe)
c.314-1141G>T (n.314-1141G>T)
c.118G>T
n.668G>T
n.635G>T
19g.11105425_11105438delCA645373225LDLRc.777_790del (p.Cys259Ter)
c.519_532del (p.Cys173Ter)
c.773_786del
c.314-1967_314-1954del (n.314-1967_314-1954del)
c.396_409del (p.Cys132Ter)
c.314-1140_314-1127del (n.314-1140_314-1127del)
c.119_132del
n.669_682del
n.636_649del
 ClinVar dbSNP
19g.11105425C>ACA10584967LDLRc.777C>A (p.Cys259Ter)
c.519C>A (p.Cys173Ter)
c.773C>A
c.314-1967C>A (n.314-1967C>A)
c.396C>A (p.Cys132Ter)
c.314-1140C>A (n.314-1140C>A)
c.119C>A
n.669C>A
n.636C>A
 ClinVar dbSNP gnomAD v4
19g.11105425C=CA2322767457LDLRc.777C= (p.Cys259=)
c.519C= (p.Cys173=)
c.773C=
c.314-1967C= (n.314-1967C=)
c.396C= (p.Cys132=)
c.314-1140C= (n.314-1140C=)
c.119C=
n.669C=
n.636C=
19g.11105425C>GCA10584968LDLRc.777C>G (p.Cys259Trp)
c.519C>G (p.Cys173Trp)
c.773C>G
c.314-1967C>G (n.314-1967C>G)
c.396C>G (p.Cys132Trp)
c.314-1140C>G (n.314-1140C>G)
c.119C>G
n.669C>G
n.636C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105425C>TCA043809LDLRc.777C>T (p.Cys259=)
c.519C>T (p.Cys173=)
c.773C>T
c.314-1967C>T (n.314-1967C>T)
c.396C>T (p.Cys132=)
c.314-1140C>T (n.314-1140C>T)
c.119C>T
n.669C>T
n.636C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched