Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100222_11107515delCA658824387LDLRc.326-1_1198+1del
c.68-1_940+1del
c.322-1_1194+1del
c.68-1_436+1del
c.68-1_817+1del
c.68-1_559+1del
n.218-1_1090+1del
n.185-1_1057+1del
 ClinVar
19g.11101932_11106610delCA1139666288LDLRc.449-732_998del
c.191-732_740del
c.445-732_994del
c.191-732_314-782del
c.190+1587_617del
c.191-732_359del
n.341-732_890del
n.308-732_857del
 ClinVar
19g.11102141_11108134delCA2573050561LDLRc.449-523_1198+620del
c.191-523_940+620del
c.445-523_1194+620del
c.191-523_436+620del
c.190+1796_817+620del
c.191-523_559+620del
n.341-523_1090+620del
n.308-523_1057+620del
19g.11102152_11108145delCA10584784LDLRc.449-512_1198+631del
c.191-512_940+631del
c.445-512_1194+631del
c.191-512_436+631del
c.190+1807_817+631del
c.191-512_559+631del
n.341-512_1090+631del
n.308-512_1057+631del
 ClinVar
19g.11102477_11108484delCA2573050562LDLRc.449-187_1198+970del
c.191-187_940+970del
c.445-187_1194+970del
c.191-187_436+970del
c.190+2132_817+970del
c.191-187_559+970del
n.341-187_1090+970del
n.308-187_1057+970del
19g.11102664_11105600delCA2580061394LDLRc.449_952del
c.191_694del
c.445_948del
c.191_314-1792del
c.190+2319_571del
c.191_314-965del
n.341_844del
n.308_811del
 ClinVar
19g.11102664_11106687delCA10584788LDLRc.449_1075del
c.191_817del
c.445_1071del
c.191_314-705del
c.190+2319_694del
c.191_436del
n.341_967del
n.308_934del
19g.11102663_11107515delCA658824388LDLRc.449-1_1198+1del
c.191-1_940+1del
c.445-1_1194+1del
c.191-1_436+1del
c.190+2318_817+1del
c.191-1_559+1del
n.341-1_1090+1del
n.308-1_1057+1del
 ClinVar
19g.11102785_11107393delCA916084172LDLRc.570_1077del
c.312_819del
c.566_1073del
c.312_315del
c.191-2435_696del
c.312_438del
n.462_969del
n.429_936del
19g.11104109_11109216delCA2573050567LDLRc.572-1111_1199-1436del
c.314-1111_941-1436del
c.314-1111_940+1702del
c.568-1111_1195-1436del
c.313+1323_437-1436del
c.191-1111_818-1436del
c.313+1323_560-1436del
n.464-1111_1091-1436del
n.431-1111_1058-1436del
19g.11104774_11112892dupCA2580612594LDLRc.572-446_1445-386dup
c.314-446_1187-386dup
c.314-446_1067-386dup
c.568-446_1441-386dup
c.313+1988_683-386dup
c.191-446_1064-386dup
c.314-1791_806-386dup
n.464-446_1337-386dup
n.431-446_1304-386dup
19g.11105158_11111699dupCA2580612596LDLRc.572-62_1444+60dup
c.314-62_1186+60dup
c.314-62_1066+60dup
c.568-62_1440+60dup
c.314-2234_682+60dup
c.191-62_1063+60dup
c.314-1407_805+60dup
n.464-62_1336+60dup
n.431-62_1303+60dup
19g.11105170_11111689dupCA2580612597LDLRc.572-50_1444+50dup
c.314-50_1186+50dup
c.314-50_1066+50dup
c.568-50_1440+50dup
c.314-2222_682+50dup
c.191-50_1063+50dup
c.314-1395_805+50dup
n.464-50_1336+50dup
n.431-50_1303+50dup
19g.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACA2322767386LDLRc.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=)
c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=)
c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=)
c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA)
c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA
19g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACCA2322767387LDLRc.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=)
c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=)
c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=)
c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC)
c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC
19g.11105348_11105410delCA16602300LDLRc.700_762del (p.Cys234_Asp254del)
c.442_504del (p.Cys148_Asp168del)
c.696_758del
c.314-2044_314-1982del (n.314-2044_314-1982del)
c.319_381del (p.Cys107_Asp127del)
c.314-1217_314-1155del (n.314-1217_314-1155del)
c.42_104del
n.592_654del
n.559_621del
 ClinVar dbSNP
19g.11105348_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.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.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.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
19g.11105426delCA2695223204LDLRc.778del (p.Glu260LysfsTer?)
c.520del (p.Glu174LysfsTer?)
c.774del
c.314-1966del (n.314-1966del)
c.397del (p.Glu133LysfsTer?)
c.314-1139del (n.314-1139del)
c.120del
n.670del
n.637del
19g.11105426G>ACA043821LDLRc.778G>A (p.Glu260Lys)
c.520G>A (p.Glu174Lys)
c.774G>A
c.314-1966G>A (n.314-1966G>A)
c.397G>A (p.Glu133Lys)
c.314-1139G>A (n.314-1139G>A)
c.120G>A
n.670G>A
n.637G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11105426G>CCA404076983LDLRc.778G>C (p.Glu260Gln)
c.520G>C (p.Glu174Gln)
c.774G>C
c.314-1966G>C (n.314-1966G>C)
c.397G>C (p.Glu133Gln)
c.314-1139G>C (n.314-1139G>C)
c.120G>C
n.670G>C
n.637G>C
19g.11105426G=CA2322767458LDLRc.778G= (p.Glu260=)
c.520G= (p.Glu174=)
c.774G=
c.314-1966G= (n.314-1966G=)
c.397G= (p.Glu133=)
c.314-1139G= (n.314-1139G=)
c.120G=
n.670G=
n.637G=
19g.11105426G>TCA043837LDLRc.778G>T (p.Glu260Ter)
c.520G>T (p.Glu174Ter)
c.774G>T
c.314-1966G>T (n.314-1966G>T)
c.397G>T (p.Glu133Ter)
c.314-1139G>T (n.314-1139G>T)
c.120G>T
n.670G>T
n.637G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105427A>CCA404076988LDLRc.779A>C (p.Glu260Ala)
c.521A>C (p.Glu174Ala)
c.775A>C
c.314-1965A>C (n.314-1965A>C)
c.398A>C (p.Glu133Ala)
c.314-1138A>C (n.314-1138A>C)
c.121A>C
n.671A>C
n.638A>C
19g.11105427A>GCA404076991LDLRc.779A>G (p.Glu260Gly)
c.521A>G (p.Glu174Gly)
c.775A>G
c.314-1965A>G (n.314-1965A>G)
c.398A>G (p.Glu133Gly)
c.314-1138A>G (n.314-1138A>G)
c.121A>G
n.671A>G
n.638A>G
19g.11105427A>TCA404076994LDLRc.779A>T (p.Glu260Val)
c.521A>T (p.Glu174Val)
c.775A>T
c.314-1965A>T (n.314-1965A>T)
c.398A>T (p.Glu133Val)
c.314-1138A>T (n.314-1138A>T)
c.121A>T
n.671A>T
n.638A>T
19g.11105428A>CCA404076999LDLRc.780A>C (p.Glu260Asp)
c.522A>C (p.Glu174Asp)
c.776A>C
c.314-1964A>C (n.314-1964A>C)
c.399A>C (p.Glu133Asp)
c.314-1137A>C (n.314-1137A>C)
c.122A>C
n.672A>C
n.639A>C
19g.11105428A>GCA505743220LDLRc.780A>G (p.Glu260=)
c.522A>G (p.Glu174=)
c.776A>G
c.314-1964A>G (n.314-1964A>G)
c.399A>G (p.Glu133=)
c.314-1137A>G (n.314-1137A>G)
c.122A>G
n.672A>G
n.639A>G
19g.11105428A>TCA404077001LDLRc.780A>T (p.Glu260Asp)
c.522A>T (p.Glu174Asp)
c.776A>T
c.314-1964A>T (n.314-1964A>T)
c.399A>T (p.Glu133Asp)
c.314-1137A>T (n.314-1137A>T)
c.122A>T
n.672A>T
n.639A>T
19g.11105428_11105440delinsAGATGGCTCGGATCA2322767459LDLRc.780_792delinsAGATGGCTCGGAT (p.Glu260=)
c.522_534delinsAGATGGCTCGGAT (p.Glu174=)
c.776_788delinsAGATGGCTCGGAT
c.314-1964_314-1952delinsAGATGGCTCGGAT (n.314-1964_314-1952delinsAGATGGCTCGGAT)
c.399_411delinsAGATGGCTCGGAT (p.Glu133=)
c.314-1137_314-1125delinsAGATGGCTCGGAT (n.314-1137_314-1125delinsAGATGGCTCGGAT)
c.122_134delinsAGATGGCTCGGAT
n.672_684delinsAGATGGCTCGGAT
n.639_651delinsAGATGGCTCGGAT
19g.11105429G>ACA023713LDLRc.781G>A (p.Asp261Asn)
c.523G>A (p.Asp175Asn)
c.777G>A
c.314-1963G>A (n.314-1963G>A)
c.400G>A (p.Asp134Asn)
c.314-1136G>A (n.314-1136G>A)
c.123G>A
n.673G>A
n.640G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105429G>CCA404077006LDLRc.781G>C (p.Asp261His)
c.523G>C (p.Asp175His)
c.777G>C
c.314-1963G>C (n.314-1963G>C)
c.400G>C (p.Asp134His)
c.314-1136G>C (n.314-1136G>C)
c.123G>C
n.673G>C
n.640G>C
19g.11105429G=CA2322767460LDLRc.781G= (p.Asp261=)
c.523G= (p.Asp175=)
c.777G=
c.314-1963G= (n.314-1963G=)
c.400G= (p.Asp134=)
c.314-1136G= (n.314-1136G=)
c.123G=
n.673G=
n.640G=
19g.11105429G>TCA10584969LDLRc.781G>T (p.Asp261Tyr)
c.523G>T (p.Asp175Tyr)
c.777G>T
c.314-1963G>T (n.314-1963G>T)
c.400G>T (p.Asp134Tyr)
c.314-1136G>T (n.314-1136G>T)
c.123G>T
n.673G>T
n.640G>T
 ClinVar dbSNP
19g.11105431_11105442delCA10584970LDLRc.783_794del (p.Asp261_Asp264del)
c.525_536del (p.Asp175_Asp178del)
c.779_790del
c.314-1961_314-1950del (n.314-1961_314-1950del)
c.402_413del (p.Asp134_Asp137del)
c.314-1134_314-1123del (n.314-1134_314-1123del)
c.125_136del
n.675_686del
n.642_653del
 ClinVar dbSNP
19g.11105430A>CCA404077014LDLRc.782A>C (p.Asp261Ala)
c.524A>C (p.Asp175Ala)
c.778A>C
c.314-1962A>C (n.314-1962A>C)
c.401A>C (p.Asp134Ala)
c.314-1135A>C (n.314-1135A>C)
c.124A>C
n.674A>C
n.641A>C
19g.11105430A>GCA404077017LDLRc.782A>G (p.Asp261Gly)
c.524A>G (p.Asp175Gly)
c.778A>G
c.314-1962A>G (n.314-1962A>G)
c.401A>G (p.Asp134Gly)
c.314-1135A>G (n.314-1135A>G)
c.124A>G
n.674A>G
n.641A>G
19g.11105430A>TCA404077020LDLRc.782A>T (p.Asp261Val)
c.524A>T (p.Asp175Val)
c.778A>T
c.314-1962A>T (n.314-1962A>T)
c.401A>T (p.Asp134Val)
c.314-1135A>T (n.314-1135A>T)
c.124A>T
n.674A>T
n.641A>T
 gnomAD v4
19g.11105431T>ACA404077022LDLRc.783T>A (p.Asp261Glu)
c.525T>A (p.Asp175Glu)
c.779T>A
c.314-1961T>A (n.314-1961T>A)
c.402T>A (p.Asp134Glu)
c.314-1134T>A (n.314-1134T>A)
c.125T>A
n.675T>A
n.642T>A
19g.11105431T>CCA505743224LDLRc.783T>C (p.Asp261=)
c.525T>C (p.Asp175=)
c.779T>C
c.314-1961T>C (n.314-1961T>C)
c.402T>C (p.Asp134=)
c.314-1134T>C (n.314-1134T>C)
c.125T>C
n.675T>C
n.642T>C
 ClinVar
19g.11105431T>GCA404077023LDLRc.783T>G (p.Asp261Glu)
c.525T>G (p.Asp175Glu)
c.779T>G
c.314-1961T>G (n.314-1961T>G)
c.402T>G (p.Asp134Glu)
c.314-1134T>G (n.314-1134T>G)
c.125T>G
n.675T>G
n.642T>G
19g.11105431T=CA2322767461LDLRc.783T= (p.Asp261=)
c.525T= (p.Asp175=)
c.779T=
c.314-1961T= (n.314-1961T=)
c.402T= (p.Asp134=)
c.314-1134T= (n.314-1134T=)
c.125T=
n.675T=
n.642T=
19g.11105432G>ACA404077026LDLRc.784G>A (p.Gly262Ser)
c.526G>A (p.Gly176Ser)
c.780G>A
c.314-1960G>A (n.314-1960G>A)
c.403G>A (p.Gly135Ser)
c.314-1133G>A (n.314-1133G>A)
c.126G>A
n.676G>A
n.643G>A
 gnomAD v4
19g.11105432G>CCA404077029LDLRc.784G>C (p.Gly262Arg)
c.526G>C (p.Gly176Arg)
c.780G>C
c.314-1960G>C (n.314-1960G>C)
c.403G>C (p.Gly135Arg)
c.314-1133G>C (n.314-1133G>C)
c.126G>C
n.676G>C
n.643G>C
19g.11105432G>TCA404077031LDLRc.784G>T (p.Gly262Cys)
c.526G>T (p.Gly176Cys)
c.780G>T
c.314-1960G>T (n.314-1960G>T)
c.403G>T (p.Gly135Cys)
c.314-1133G>T (n.314-1133G>T)
c.126G>T
n.676G>T
n.643G>T
19g.11105432_11105439dupCA10584971LDLRc.784_791dup (p.Asp264GlufsTer31)
c.526_533dup (p.Asp178GlufsTer31)
c.780_787dup
c.314-1960_314-1953dup (n.314-1960_314-1953dup)
c.403_410dup (p.Asp137GlufsTer31)
c.314-1133_314-1126dup (n.314-1133_314-1126dup)
c.126_133dup
n.676_683dup
n.643_650dup
 ClinVar dbSNP gnomAD v4
19g.11105433G>ACA404077051LDLRc.785G>A (p.Gly262Asp)
c.527G>A (p.Gly176Asp)
c.781G>A
c.314-1959G>A (n.314-1959G>A)
c.404G>A (p.Gly135Asp)
c.314-1132G>A (n.314-1132G>A)
c.127G>A
n.677G>A
n.644G>A
19g.11105433G>CCA404077042LDLRc.785G>C (p.Gly262Ala)
c.527G>C (p.Gly176Ala)
c.781G>C
c.314-1959G>C (n.314-1959G>C)
c.404G>C (p.Gly135Ala)
c.314-1132G>C (n.314-1132G>C)
c.127G>C
n.677G>C
n.644G>C
19g.11105433G=CA2322767462LDLRc.785G= (p.Gly262=)
c.527G= (p.Gly176=)
c.781G=
c.314-1959G= (n.314-1959G=)
c.404G= (p.Gly135=)
c.314-1132G= (n.314-1132G=)
c.127G=
n.677G=
n.644G=
19g.11105433G>TCA10584972LDLRc.785G>T (p.Gly262Val)
c.527G>T (p.Gly176Val)
c.781G>T
c.314-1959G>T (n.314-1959G>T)
c.404G>T (p.Gly135Val)
c.314-1132G>T (n.314-1132G>T)
c.127G>T
n.677G>T
n.644G>T
 ClinVar dbSNP gnomAD v4
19g.11105434C>ACA505743228LDLRc.786C>A (p.Gly262=)
c.528C>A (p.Gly176=)
c.782C>A
c.314-1958C>A (n.314-1958C>A)
c.405C>A (p.Gly135=)
c.314-1131C>A (n.314-1131C>A)
c.128C>A
n.678C>A
n.645C>A
19g.11105434C=CA2322767463LDLRc.786C= (p.Gly262=)
c.528C= (p.Gly176=)
c.782C=
c.314-1958C= (n.314-1958C=)
c.405C= (p.Gly135=)
c.314-1131C= (n.314-1131C=)
c.128C=
n.678C=
n.645C=
19g.11105434C>GCA505743229LDLRc.786C>G (p.Gly262=)
c.528C>G (p.Gly176=)
c.782C>G
c.314-1958C>G (n.314-1958C>G)
c.405C>G (p.Gly135=)
c.314-1131C>G (n.314-1131C>G)
c.128C>G
n.678C>G
n.645C>G
19g.11105434C>TCA505743230LDLRc.786C>T (p.Gly262=)
c.528C>T (p.Gly176=)
c.782C>T
c.314-1958C>T (n.314-1958C>T)
c.405C>T (p.Gly135=)
c.314-1131C>T (n.314-1131C>T)
c.128C>T
n.678C>T
n.645C>T
 ClinVar dbSNP
19g.11105435T>ACA404077055LDLRc.787T>A (p.Ser263Thr)
c.529T>A (p.Ser177Thr)
c.783T>A
c.314-1957T>A (n.314-1957T>A)
c.406T>A (p.Ser136Thr)
c.314-1130T>A (n.314-1130T>A)
c.129T>A
n.679T>A
n.646T>A
19g.11105435T>CCA16609805LDLRc.787T>C (p.Ser263Pro)
c.529T>C (p.Ser177Pro)
c.783T>C
c.314-1957T>C (n.314-1957T>C)
c.406T>C (p.Ser136Pro)
c.314-1130T>C (n.314-1130T>C)
c.129T>C
n.679T>C
n.646T>C
 ClinVar dbSNP
19g.11105435T>GCA404077058LDLRc.787T>G (p.Ser263Ala)
c.529T>G (p.Ser177Ala)
c.783T>G
c.314-1957T>G (n.314-1957T>G)
c.406T>G (p.Ser136Ala)
c.314-1130T>G (n.314-1130T>G)
c.129T>G
n.679T>G
n.646T>G
19g.11105435T=CA2322767464LDLRc.787T= (p.Ser263=)
c.529T= (p.Ser177=)
c.783T=
c.314-1957T= (n.314-1957T=)
c.406T= (p.Ser136=)
c.314-1130T= (n.314-1130T=)
c.129T=
n.679T=
n.646T=
19g.11105436C>ACA404077059LDLRc.788C>A (p.Ser263Ter)
c.530C>A (p.Ser177Ter)
c.784C>A
c.314-1956C>A (n.314-1956C>A)
c.407C>A (p.Ser136Ter)
c.314-1129C>A (n.314-1129C>A)
c.130C>A
n.680C>A
n.647C>A
19g.11105436C=CA2322767465LDLRc.788C= (p.Ser263=)
c.530C= (p.Ser177=)
c.784C=
c.314-1956C= (n.314-1956C=)
c.407C= (p.Ser136=)
c.314-1129C= (n.314-1129C=)
c.130C=
n.680C=
n.647C=
19g.11105436C>GCA404077062LDLRc.788C>G (p.Ser263Trp)
c.530C>G (p.Ser177Trp)
c.784C>G
c.314-1956C>G (n.314-1956C>G)
c.407C>G (p.Ser136Trp)
c.314-1129C>G (n.314-1129C>G)
c.130C>G
n.680C>G
n.647C>G
 ClinVar
19g.11105436C>TCA023715LDLRc.788C>T (p.Ser263Leu)
c.530C>T (p.Ser177Leu)
c.784C>T
c.314-1956C>T (n.314-1956C>T)
c.407C>T (p.Ser136Leu)
c.314-1129C>T (n.314-1129C>T)
c.130C>T
n.680C>T
n.647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105436_11105437delinsCGCA2322767466LDLRc.788_789delinsCG (p.Ser263=)
c.530_531delinsCG (p.Ser177=)
c.784_785delinsCG
c.314-1956_314-1955delinsCG (n.314-1956_314-1955delinsCG)
c.407_408delinsCG (p.Ser136=)
c.314-1129_314-1128delinsCG (n.314-1129_314-1128delinsCG)
c.130_131delinsCG
n.680_681delinsCG
n.647_648delinsCG
19g.11105437G>ACA043856LDLRc.789G>A (p.Ser263=)
c.531G>A (p.Ser177=)
c.785G>A
c.314-1955G>A (n.314-1955G>A)
c.408G>A (p.Ser136=)
c.314-1128G>A (n.314-1128G>A)
c.131G>A
n.681G>A
n.648G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105437G>CCA505743235LDLRc.789G>C (p.Ser263=)
c.531G>C (p.Ser177=)
c.785G>C
c.314-1955G>C (n.314-1955G>C)
c.408G>C (p.Ser136=)
c.314-1128G>C (n.314-1128G>C)
c.131G>C
n.681G>C
n.648G>C
19g.11105437G=CA2322767467LDLRc.789G= (p.Ser263=)
c.531G= (p.Ser177=)
c.785G=
c.314-1955G= (n.314-1955G=)
c.408G= (p.Ser136=)
c.314-1128G= (n.314-1128G=)
c.131G=
n.681G=
n.648G=
19g.11105437G>TCA505743236LDLRc.789G>T (p.Ser263=)
c.531G>T (p.Ser177=)
c.785G>T
c.314-1955G>T (n.314-1955G>T)
c.408G>T (p.Ser136=)
c.314-1128G>T (n.314-1128G>T)
c.131G>T
n.681G>T
n.648G>T
19g.11105438delCA645509258LDLRc.790del (p.Asp264MetfsTer28)
c.532del (p.Asp178MetfsTer28)
c.786del
c.314-1954del (n.314-1954del)
c.409del (p.Asp137MetfsTer28)
c.314-1127del (n.314-1127del)
c.132del
n.682del
n.649del
 ClinVar dbSNP
19g.11105438G>ACA10584973LDLRc.790G>A (p.Asp264Asn)
c.532G>A (p.Asp178Asn)
c.786G>A
c.314-1954G>A (n.314-1954G>A)
c.409G>A (p.Asp137Asn)
c.314-1127G>A (n.314-1127G>A)
c.132G>A
n.682G>A
n.649G>A
 ClinVar dbSNP COSMIC
19g.11105438G>CCA10584974LDLRc.790G>C (p.Asp264His)
c.532G>C (p.Asp178His)
c.786G>C
c.314-1954G>C (n.314-1954G>C)
c.409G>C (p.Asp137His)
c.314-1127G>C (n.314-1127G>C)
c.132G>C
n.682G>C
n.649G>C
 ClinVar dbSNP
19g.11105438G=CA2322767468LDLRc.790G= (p.Asp264=)
c.532G= (p.Asp178=)
c.786G=
c.314-1954G= (n.314-1954G=)
c.409G= (p.Asp137=)
c.314-1127G= (n.314-1127G=)
c.132G=
n.682G=
n.649G=
19g.11105438G>TCA10584975LDLRc.790G>T (p.Asp264Tyr)
c.532G>T (p.Asp178Tyr)
c.786G>T
c.314-1954G>T (n.314-1954G>T)
c.409G>T (p.Asp137Tyr)
c.314-1127G>T (n.314-1127G>T)
c.132G>T
n.682G>T
n.649G>T
 ClinVar dbSNP
19g.11105438_11105439insTCA10584976LDLRc.790_791insT (p.Asp264ValfsTer2)
c.532_533insT (p.Asp178ValfsTer2)
c.786_787insT
c.314-1954_314-1953insT (n.314-1954_314-1953insT)
c.409_410insT (p.Asp137ValfsTer2)
c.314-1127_314-1126insT (n.314-1127_314-1126insT)
c.132_133insT
n.682_683insT
n.649_650insT
 ClinVar dbSNP
19g.11105439A=CA2322767469LDLRc.791A= (p.Asp264=)
c.533A= (p.Asp178=)
c.787A=
c.314-1953A= (n.314-1953A=)
c.410A= (p.Asp137=)
c.314-1126A= (n.314-1126A=)
c.133A=
n.683A=
n.650A=
19g.11105439A>CCA404077079LDLRc.791A>C (p.Asp264Ala)
c.533A>C (p.Asp178Ala)
c.787A>C
c.314-1953A>C (n.314-1953A>C)
c.410A>C (p.Asp137Ala)
c.314-1126A>C (n.314-1126A>C)
c.133A>C
n.683A>C
n.650A>C
19g.11105439A>GCA10584977LDLRc.791A>G (p.Asp264Gly)
c.533A>G (p.Asp178Gly)
c.787A>G
c.314-1953A>G (n.314-1953A>G)
c.410A>G (p.Asp137Gly)
c.314-1126A>G (n.314-1126A>G)
c.133A>G
n.683A>G
n.650A>G
 ClinVar dbSNP
19g.11105439A>TCA10576284LDLRc.791A>T (p.Asp264Val)
c.533A>T (p.Asp178Val)
c.787A>T
c.314-1953A>T (n.314-1953A>T)
c.410A>T (p.Asp137Val)
c.314-1126A>T (n.314-1126A>T)
c.133A>T
n.683A>T
n.650A>T
 ClinVar dbSNP gnomAD v4
19g.11105440T>ACA404077082LDLRc.792T>A (p.Asp264Glu)
c.534T>A (p.Asp178Glu)
c.788T>A
c.314-1952T>A (n.314-1952T>A)
c.411T>A (p.Asp137Glu)
c.314-1125T>A (n.314-1125T>A)
c.134T>A
n.684T>A
n.651T>A
19g.11105440T>CCA505743240LDLRc.792T>C (p.Asp264=)
c.534T>C (p.Asp178=)
c.788T>C
c.314-1952T>C (n.314-1952T>C)
c.411T>C (p.Asp137=)
c.314-1125T>C (n.314-1125T>C)
c.134T>C
n.684T>C
n.651T>C
19g.11105440T>GCA10584978LDLRc.792T>G (p.Asp264Glu)
c.534T>G (p.Asp178Glu)
c.788T>G
c.314-1952T>G (n.314-1952T>G)
c.411T>G (p.Asp137Glu)
c.314-1125T>G (n.314-1125T>G)
c.134T>G
n.684T>G
n.651T>G
 ClinVar dbSNP
19g.11105440T=CA2322767470LDLRc.792T= (p.Asp264=)
c.534T= (p.Asp178=)
c.788T=
c.314-1952T= (n.314-1952T=)
c.411T= (p.Asp137=)
c.314-1125T= (n.314-1125T=)
c.134T=
n.684T=
n.651T=
19g.11105441G>ACA10584979LDLRc.793G>A (p.Glu265Lys)
c.535G>A (p.Glu179Lys)
c.789G>A
c.314-1951G>A (n.314-1951G>A)
c.412G>A (p.Glu138Lys)
c.314-1124G>A (n.314-1124G>A)
c.135G>A
n.685G>A
n.652G>A
 ClinVar dbSNP
19g.11105441G>CCA404077089LDLRc.793G>C (p.Glu265Gln)
c.535G>C (p.Glu179Gln)
c.789G>C
c.314-1951G>C (n.314-1951G>C)
c.412G>C (p.Glu138Gln)
c.314-1124G>C (n.314-1124G>C)
c.135G>C
n.685G>C
n.652G>C
19g.11105441G=CA2322767471LDLRc.793G= (p.Glu265=)
c.535G= (p.Glu179=)
c.789G=
c.314-1951G= (n.314-1951G=)
c.412G= (p.Glu138=)
c.314-1124G= (n.314-1124G=)
c.135G=
n.685G=
n.652G=
19g.11105441G>TCA10584980LDLRc.793G>T (p.Glu265Ter)
c.535G>T (p.Glu179Ter)
c.789G>T
c.314-1951G>T (n.314-1951G>T)
c.412G>T (p.Glu138Ter)
c.314-1124G>T (n.314-1124G>T)
c.135G>T
n.685G>T
n.652G>T
 ClinVar dbSNP gnomAD v4
19g.11105441_11105442insGCTCGGAGCA645509259LDLRc.793_794insGCTCGGAG (p.Glu265GlyfsTer30)
c.535_536insGCTCGGAG (p.Glu179GlyfsTer30)
c.789_790insGCTCGGAG
c.314-1951_314-1950insGCTCGGAG (n.314-1951_314-1950insGCTCGGAG)
c.412_413insGCTCGGAG (p.Glu138GlyfsTer30)
c.314-1124_314-1123insGCTCGGAG (n.314-1124_314-1123insGCTCGGAG)
c.135_136insGCTCGGAG
n.685_686insGCTCGGAG
n.652_653insGCTCGGAG
 ClinVar dbSNP
19g.11105441_11105442delinsATCA2695238655LDLRc.793_794delinsAT (p.Glu265Met)
c.535_536delinsAT (p.Glu179Met)
c.789_790delinsAT
c.314-1951_314-1950delinsAT (n.314-1951_314-1950delinsAT)
c.412_413delinsAT (p.Glu138Met)
c.314-1124_314-1123delinsAT (n.314-1124_314-1123delinsAT)
c.135_136delinsAT
n.685_686delinsAT
n.652_653delinsAT
 ClinVar
19g.11105442A=CA2322767472LDLRc.794A= (p.Glu265=)
c.536A= (p.Glu179=)
c.790A=
c.314-1950A= (n.314-1950A=)
c.413A= (p.Glu138=)
c.314-1123A= (n.314-1123A=)
c.136A=
n.686A=
n.653A=
19g.11105442A>CCA404077094LDLRc.794A>C (p.Glu265Ala)
c.536A>C (p.Glu179Ala)
c.790A>C
c.314-1950A>C (n.314-1950A>C)
c.413A>C (p.Glu138Ala)
c.314-1123A>C (n.314-1123A>C)
c.136A>C
n.686A>C
n.653A>C
 ClinVar
19g.11105442A>GCA10584981LDLRc.794A>G (p.Glu265Gly)
c.536A>G (p.Glu179Gly)
c.790A>G
c.314-1950A>G (n.314-1950A>G)
c.413A>G (p.Glu138Gly)
c.314-1123A>G (n.314-1123A>G)
c.136A>G
n.686A>G
n.653A>G
 ClinVar dbSNP
19g.11105442A>TCA404077096LDLRc.794A>T (p.Glu265Val)
c.536A>T (p.Glu179Val)
c.790A>T
c.314-1950A>T (n.314-1950A>T)
c.413A>T (p.Glu138Val)
c.314-1123A>T (n.314-1123A>T)
c.136A>T
n.686A>T
n.653A>T
19g.11105443G>ACA505743242LDLRc.795G>A (p.Glu265=)
c.537G>A (p.Glu179=)
c.791G>A
c.314-1949G>A (n.314-1949G>A)
c.414G>A (p.Glu138=)
c.314-1122G>A (n.314-1122G>A)
c.137G>A
n.687G>A
n.654G>A
19g.11105443G>CCA404077097LDLRc.795G>C (p.Glu265Asp)
c.537G>C (p.Glu179Asp)
c.791G>C
c.314-1949G>C (n.314-1949G>C)
c.414G>C (p.Glu138Asp)
c.314-1122G>C (n.314-1122G>C)
c.137G>C
n.687G>C
n.654G>C
 gnomAD v4
19g.11105443G>TCA404077098LDLRc.795G>T (p.Glu265Asp)
c.537G>T (p.Glu179Asp)
c.791G>T
c.314-1949G>T (n.314-1949G>T)
c.414G>T (p.Glu138Asp)
c.314-1122G>T (n.314-1122G>T)
c.137G>T
n.687G>T
n.654G>T
19g.11105444T>ACA404077103LDLRc.796T>A (p.Trp266Arg)
c.538T>A (p.Trp180Arg)
c.792T>A
c.314-1948T>A (n.314-1948T>A)
c.415T>A (p.Trp139Arg)
c.314-1121T>A (n.314-1121T>A)
c.138T>A
n.688T>A
n.655T>A
19g.11105444T>CCA404077105LDLRc.796T>C (p.Trp266Arg)
c.538T>C (p.Trp180Arg)
c.792T>C
c.314-1948T>C (n.314-1948T>C)
c.415T>C (p.Trp139Arg)
c.314-1121T>C (n.314-1121T>C)
c.138T>C
n.688T>C
n.655T>C
19g.11105444T>GCA404077107LDLRc.796T>G (p.Trp266Gly)
c.538T>G (p.Trp180Gly)
c.792T>G
c.314-1948T>G (n.314-1948T>G)
c.415T>G (p.Trp139Gly)
c.314-1121T>G (n.314-1121T>G)
c.138T>G
n.688T>G
n.655T>G
19g.11105445G>ACA10584982LDLRc.797G>A (p.Trp266Ter)
c.539G>A (p.Trp180Ter)
c.793G>A
c.314-1947G>A (n.314-1947G>A)
c.416G>A (p.Trp139Ter)
c.314-1120G>A (n.314-1120G>A)
c.139G>A
n.689G>A
n.656G>A
 ClinVar dbSNP
19g.11105445G>CCA404077112LDLRc.797G>C (p.Trp266Ser)
c.539G>C (p.Trp180Ser)
c.793G>C
c.314-1947G>C (n.314-1947G>C)
c.416G>C (p.Trp139Ser)
c.314-1120G>C (n.314-1120G>C)
c.139G>C
n.689G>C
n.656G>C
19g.11105445G=CA2322767473LDLRc.797G= (p.Trp266=)
c.539G= (p.Trp180=)
c.793G=
c.314-1947G= (n.314-1947G=)
c.416G= (p.Trp139=)
c.314-1120G= (n.314-1120G=)
c.139G=
n.689G=
n.656G=
19g.11105445G>TCA404077109LDLRc.797G>T (p.Trp266Leu)
c.539G>T (p.Trp180Leu)
c.793G>T
c.314-1947G>T (n.314-1947G>T)
c.416G>T (p.Trp139Leu)
c.314-1120G>T (n.314-1120G>T)
c.139G>T
n.689G>T
n.656G>T
 gnomAD v4
19g.11105446G>ACA404077118LDLRc.798G>A (p.Trp266Ter)
c.540G>A (p.Trp180Ter)
c.794G>A
c.314-1946G>A (n.314-1946G>A)
c.417G>A (p.Trp139Ter)
c.314-1119G>A (n.314-1119G>A)
c.140G>A
n.690G>A
n.657G>A
19g.11105446G>CCA404077115LDLRc.798G>C (p.Trp266Cys)
c.540G>C (p.Trp180Cys)
c.794G>C
c.314-1946G>C (n.314-1946G>C)
c.417G>C (p.Trp139Cys)
c.314-1119G>C (n.314-1119G>C)
c.140G>C
n.690G>C
n.657G>C
19g.11105446G>TCA404077116LDLRc.798G>T (p.Trp266Cys)
c.540G>T (p.Trp180Cys)
c.794G>T
c.314-1946G>T (n.314-1946G>T)
c.417G>T (p.Trp139Cys)
c.314-1119G>T (n.314-1119G>T)
c.140G>T
n.690G>T
n.657G>T
19g.11105447C>ACA404077120LDLRc.799C>A (p.Pro267Thr)
c.541C>A (p.Pro181Thr)
c.795C>A
c.314-1945C>A (n.314-1945C>A)
c.418C>A (p.Pro140Thr)
c.314-1118C>A (n.314-1118C>A)
c.141C>A
n.691C>A
n.658C>A
19g.11105447C>GCA404077122LDLRc.799C>G (p.Pro267Ala)
c.541C>G (p.Pro181Ala)
c.795C>G
c.314-1945C>G (n.314-1945C>G)
c.418C>G (p.Pro140Ala)
c.314-1118C>G (n.314-1118C>G)
c.141C>G
n.691C>G
n.658C>G
19g.11105447C>TCA404077123LDLRc.799C>T (p.Pro267Ser)
c.541C>T (p.Pro181Ser)
c.795C>T
c.314-1945C>T (n.314-1945C>T)
c.418C>T (p.Pro140Ser)
c.314-1118C>T (n.314-1118C>T)
c.141C>T
n.691C>T
n.658C>T
19g.11105447_11105448delinsTACA2497030119LDLRc.799_800delinsTA (p.Pro267Ter)
c.541_542delinsTA (p.Pro181Ter)
c.795_796delinsTA
c.314-1945_314-1944delinsTA (n.314-1945_314-1944delinsTA)
c.418_419delinsTA (p.Pro140Ter)
c.314-1118_314-1117delinsTA (n.314-1118_314-1117delinsTA)
c.141_142delinsTA
n.691_692delinsTA
n.658_659delinsTA
19g.11105448C>ACA404077130LDLRc.800C>A (p.Pro267Gln)
c.542C>A (p.Pro181Gln)
c.796C>A
c.314-1944C>A (n.314-1944C>A)
c.419C>A (p.Pro140Gln)
c.314-1117C>A (n.314-1117C>A)
c.142C>A
n.692C>A
n.659C>A
19g.11105448C=CA2322767474LDLRc.800C= (p.Pro267=)
c.542C= (p.Pro181=)
c.796C=
c.314-1944C= (n.314-1944C=)
c.419C= (p.Pro140=)
c.314-1117C= (n.314-1117C=)
c.142C=
n.692C=
n.659C=
19g.11105448C>GCA023717LDLRc.800C>G (p.Pro267Arg)
c.542C>G (p.Pro181Arg)
c.796C>G
c.314-1944C>G (n.314-1944C>G)
c.419C>G (p.Pro140Arg)
c.314-1117C>G (n.314-1117C>G)
c.142C>G
n.692C>G
n.659C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105448C>TCA305296856LDLRc.800C>T (p.Pro267Leu)
c.542C>T (p.Pro181Leu)
c.796C>T
c.314-1944C>T (n.314-1944C>T)
c.419C>T (p.Pro140Leu)
c.314-1117C>T (n.314-1117C>T)
c.142C>T
n.692C>T
n.659C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105449G>ACA043878LDLRc.801G>A (p.Pro267=)
c.543G>A (p.Pro181=)
c.797G>A
c.314-1943G>A (n.314-1943G>A)
c.420G>A (p.Pro140=)
c.314-1116G>A (n.314-1116G>A)
c.143G>A
n.693G>A
n.660G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11105449G>CCA505743248LDLRc.801G>C (p.Pro267=)
c.543G>C (p.Pro181=)
c.797G>C
c.314-1943G>C (n.314-1943G>C)
c.420G>C (p.Pro140=)
c.314-1116G>C (n.314-1116G>C)
c.143G>C
n.693G>C
n.660G>C
 dbSNP gnomAD v2 gnomAD v4
19g.11105449G=CA2322767475LDLRc.801G= (p.Pro267=)
c.543G= (p.Pro181=)
c.797G=
c.314-1943G= (n.314-1943G=)
c.420G= (p.Pro140=)
c.314-1116G= (n.314-1116G=)
c.143G=
n.693G=
n.660G=
19g.11105449G>TCA043886LDLRc.801G>T (p.Pro267=)
c.543G>T (p.Pro181=)
c.797G>T
c.314-1943G>T (n.314-1943G>T)
c.420G>T (p.Pro140=)
c.314-1116G>T (n.314-1116G>T)
c.143G>T
n.693G>T
n.660G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105450C>ACA404077139LDLRc.802C>A (p.Gln268Lys)
c.544C>A (p.Gln182Lys)
c.798C>A
c.314-1942C>A (n.314-1942C>A)
c.421C>A (p.Gln141Lys)
c.314-1115C>A (n.314-1115C>A)
c.144C>A
n.694C>A
n.661C>A
19g.11105450C=CA2322767476LDLRc.802C= (p.Gln268=)
c.544C= (p.Gln182=)
c.798C=
c.314-1942C= (n.314-1942C=)
c.421C= (p.Gln141=)
c.314-1115C= (n.314-1115C=)
c.144C=
n.694C=
n.661C=
19g.11105450C>GCA404077142LDLRc.802C>G (p.Gln268Glu)
c.544C>G (p.Gln182Glu)
c.798C>G
c.314-1942C>G (n.314-1942C>G)
c.421C>G (p.Gln141Glu)
c.314-1115C>G (n.314-1115C>G)
c.144C>G
n.694C>G
n.661C>G
19g.11105450C>TCA10584983LDLRc.802C>T (p.Gln268Ter)
c.544C>T (p.Gln182Ter)
c.798C>T
c.314-1942C>T (n.314-1942C>T)
c.421C>T (p.Gln141Ter)
c.314-1115C>T (n.314-1115C>T)
c.144C>T
n.694C>T
n.661C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11105450delinsGCCCAATCA2497030120LDLRc.802delinsGCCCAAT (p.Gln268AlafsTer3)
c.544delinsGCCCAAT (p.Gln182AlafsTer3)
c.798delinsGCCCAAT
c.314-1942delinsGCCCAAT (n.314-1942delinsGCCCAAT)
c.421delinsGCCCAAT (p.Gln141AlafsTer3)
c.314-1115delinsGCCCAAT (n.314-1115delinsGCCCAAT)
c.144delinsGCCCAAT
n.694delinsGCCCAAT
n.661delinsGCCCAAT
19g.11105451A=CA2322767477LDLRc.803A= (p.Gln268=)
c.545A= (p.Gln182=)
c.799A=
c.314-1941A= (n.314-1941A=)
c.422A= (p.Gln141=)
c.314-1114A= (n.314-1114A=)
c.145A=
n.695A=
n.662A=
19g.11105451A>CCA404077151LDLRc.803A>C (p.Gln268Pro)
c.545A>C (p.Gln182Pro)
c.799A>C
c.314-1941A>C (n.314-1941A>C)
c.422A>C (p.Gln141Pro)
c.314-1114A>C (n.314-1114A>C)
c.145A>C
n.695A>C
n.662A>C
19g.11105451A>GCA023719LDLRc.803A>G (p.Gln268Arg)
c.545A>G (p.Gln182Arg)
c.799A>G
c.314-1941A>G (n.314-1941A>G)
c.422A>G (p.Gln141Arg)
c.314-1114A>G (n.314-1114A>G)
c.145A>G
n.695A>G
n.662A>G
 ClinVar dbSNP ExAC gnomAD v2
19g.11105451A>TCA404077154LDLRc.803A>T (p.Gln268Leu)
c.545A>T (p.Gln182Leu)
c.799A>T
c.314-1941A>T (n.314-1941A>T)
c.422A>T (p.Gln141Leu)
c.314-1114A>T (n.314-1114A>T)
c.145A>T
n.695A>T
n.662A>T
19g.11105452G>ACA505743251LDLRc.804G>A (p.Gln268=)
c.546G>A (p.Gln182=)
c.800G>A
c.314-1940G>A (n.314-1940G>A)
c.423G>A (p.Gln141=)
c.314-1113G>A (n.314-1113G>A)
c.146G>A
n.696G>A
n.663G>A
19g.11105452G>CCA404077160LDLRc.804G>C (p.Gln268His)
c.546G>C (p.Gln182His)
c.800G>C
c.314-1940G>C (n.314-1940G>C)
c.423G>C (p.Gln141His)
c.314-1113G>C (n.314-1113G>C)
c.146G>C
n.696G>C
n.663G>C
19g.11105452G>TCA404077164LDLRc.804G>T (p.Gln268His)
c.546G>T (p.Gln182His)
c.800G>T
c.314-1940G>T (n.314-1940G>T)
c.423G>T (p.Gln141His)
c.314-1113G>T (n.314-1113G>T)
c.146G>T
n.696G>T
n.663G>T
19g.11105453C>ACA404077170LDLRc.805C>A (p.Arg269Ser)
c.547C>A (p.Arg183Ser)
c.801C>A
c.314-1939C>A (n.314-1939C>A)
c.424C>A (p.Arg142Ser)
c.314-1112C>A (n.314-1112C>A)
c.147C>A
n.697C>A
n.664C>A
 ClinVar dbSNP gnomAD v4
19g.11105453C=CA2322767478LDLRc.805C= (p.Arg269=)
c.547C= (p.Arg183=)
c.801C=
c.314-1939C= (n.314-1939C=)
c.424C= (p.Arg142=)
c.314-1112C= (n.314-1112C=)
c.147C=
n.697C=
n.664C=
19g.11105453C>GCA404077173LDLRc.805C>G (p.Arg269Gly)
c.547C>G (p.Arg183Gly)
c.801C>G
c.314-1939C>G (n.314-1939C>G)
c.424C>G (p.Arg142Gly)
c.314-1112C>G (n.314-1112C>G)
c.147C>G
n.697C>G
n.664C>G
19g.11105453C>TCA305296860LDLRc.805C>T (p.Arg269Cys)
c.547C>T (p.Arg183Cys)
c.801C>T
c.314-1939C>T (n.314-1939C>T)
c.424C>T (p.Arg142Cys)
c.314-1112C>T (n.314-1112C>T)
c.147C>T
n.697C>T
n.664C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105454G>ACA043915LDLRc.806G>A (p.Arg269His)
c.548G>A (p.Arg183His)
c.802G>A
c.314-1938G>A (n.314-1938G>A)
c.425G>A (p.Arg142His)
c.314-1111G>A (n.314-1111G>A)
c.148G>A
n.698G>A
n.665G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11105454G>CCA404077183LDLRc.806G>C (p.Arg269Pro)
c.548G>C (p.Arg183Pro)
c.802G>C
c.314-1938G>C (n.314-1938G>C)
c.425G>C (p.Arg142Pro)
c.314-1111G>C (n.314-1111G>C)
c.148G>C
n.698G>C
n.665G>C
19g.11105454G=CA2322767479LDLRc.806G= (p.Arg269=)
c.548G= (p.Arg183=)
c.802G=
c.314-1938G= (n.314-1938G=)
c.425G= (p.Arg142=)
c.314-1111G= (n.314-1111G=)
c.148G=
n.698G=
n.665G=
19g.11105454G>TCA404077191LDLRc.806G>T (p.Arg269Leu)
c.548G>T (p.Arg183Leu)
c.802G>T
c.314-1938G>T (n.314-1938G>T)
c.425G>T (p.Arg142Leu)
c.314-1111G>T (n.314-1111G>T)
c.148G>T
n.698G>T
n.665G>T
19g.11105455C>ACA505743256LDLRc.807C>A (p.Arg269=)
c.549C>A (p.Arg183=)
c.803C>A
c.314-1937C>A (n.314-1937C>A)
c.426C>A (p.Arg142=)
c.314-1110C>A (n.314-1110C>A)
c.149C>A
n.699C>A
n.666C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11105455C=CA2322767480LDLRc.807C= (p.Arg269=)
c.549C= (p.Arg183=)
c.803C=
c.314-1937C= (n.314-1937C=)
c.426C= (p.Arg142=)
c.314-1110C= (n.314-1110C=)
c.149C=
n.699C=
n.666C=
19g.11105455C>GCA505743258LDLRc.807C>G (p.Arg269=)
c.549C>G (p.Arg183=)
c.803C>G
c.314-1937C>G (n.314-1937C>G)
c.426C>G (p.Arg142=)
c.314-1110C>G (n.314-1110C>G)
c.149C>G
n.699C>G
n.666C>G
 gnomAD v4
19g.11105455C>TCA505743261LDLRc.807C>T (p.Arg269=)
c.549C>T (p.Arg183=)
c.803C>T
c.314-1937C>T (n.314-1937C>T)
c.426C>T (p.Arg142=)
c.314-1110C>T (n.314-1110C>T)
c.149C>T
n.699C>T
n.666C>T
 gnomAD v4
19g.11105456T>ACA404077193LDLRc.808T>A (p.Cys270Ser)
c.550T>A (p.Cys184Ser)
c.804T>A
c.314-1936T>A (n.314-1936T>A)
c.427T>A (p.Cys143Ser)
c.314-1109T>A (n.314-1109T>A)
c.150T>A
n.700T>A
n.667T>A
19g.11105456T>CCA10584984LDLRc.808T>C (p.Cys270Arg)
c.550T>C (p.Cys184Arg)
c.804T>C
c.314-1936T>C (n.314-1936T>C)
c.427T>C (p.Cys143Arg)
c.314-1109T>C (n.314-1109T>C)
c.150T>C
n.700T>C
n.667T>C
 ClinVar dbSNP
19g.11105456T>GCA404077201LDLRc.808T>G (p.Cys270Gly)
c.550T>G (p.Cys184Gly)
c.804T>G
c.314-1936T>G (n.314-1936T>G)
c.427T>G (p.Cys143Gly)
c.314-1109T>G (n.314-1109T>G)
c.150T>G
n.700T>G
n.667T>G
19g.11105456T=CA2322767481LDLRc.808T= (p.Cys270=)
c.550T= (p.Cys184=)
c.804T=
c.314-1936T= (n.314-1936T=)
c.427T= (p.Cys143=)
c.314-1109T= (n.314-1109T=)
c.150T=
n.700T=
n.667T=
19g.11105457G>ACA023721LDLRc.809G>A (p.Cys270Tyr)
c.551G>A (p.Cys184Tyr)
c.805G>A
c.314-1935G>A (n.314-1935G>A)
c.428G>A (p.Cys143Tyr)
c.314-1108G>A (n.314-1108G>A)
c.151G>A
n.701G>A
n.668G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105457G>CCA404077216LDLRc.809G>C (p.Cys270Ser)
c.551G>C (p.Cys184Ser)
c.805G>C
c.314-1935G>C (n.314-1935G>C)
c.428G>C (p.Cys143Ser)
c.314-1108G>C (n.314-1108G>C)
c.151G>C
n.701G>C
n.668G>C
 ClinVar dbSNP
19g.11105457G=CA2322767482LDLRc.809G= (p.Cys270=)
c.551G= (p.Cys184=)
c.805G=
c.314-1935G= (n.314-1935G=)
c.428G= (p.Cys143=)
c.314-1108G= (n.314-1108G=)
c.151G=
n.701G=
n.668G=
19g.11105457G>TCA404077206LDLRc.809G>T (p.Cys270Phe)
c.551G>T (p.Cys184Phe)
c.805G>T
c.314-1935G>T (n.314-1935G>T)
c.428G>T (p.Cys143Phe)
c.314-1108G>T (n.314-1108G>T)
c.151G>T
n.701G>T
n.668G>T
19g.11105457_11105459delinsTTCA2573050575LDLRc.809_811delinsTT (p.Cys270PhefsTer22)
c.551_553delinsTT (p.Cys184PhefsTer22)
c.805_807delinsTT
c.314-1935_314-1933delinsTT (n.314-1935_314-1933delinsTT)
c.428_430delinsTT (p.Cys143PhefsTer22)
c.314-1108_314-1106delinsTT (n.314-1108_314-1106delinsTT)
c.151_153delinsTT
n.701_703delinsTT
n.668_670delinsTT
19g.11105458T>ACA404077219LDLRc.810T>A (p.Cys270Ter)
c.552T>A (p.Cys184Ter)
c.806T>A
c.314-1934T>A (n.314-1934T>A)
c.429T>A (p.Cys143Ter)
c.314-1107T>A (n.314-1107T>A)
c.152T>A
n.702T>A
n.669T>A
19g.11105458T>CCA505743364LDLRc.810T>C (p.Cys270=)
c.552T>C (p.Cys184=)
c.806T>C
c.314-1934T>C (n.314-1934T>C)
c.429T>C (p.Cys143=)
c.314-1107T>C (n.314-1107T>C)
c.152T>C
n.702T>C
n.669T>C
 ClinVar dbSNP gnomAD v4
19g.11105458T>GCA10584985LDLRc.810T>G (p.Cys270Trp)
c.552T>G (p.Cys184Trp)
c.806T>G
c.314-1934T>G (n.314-1934T>G)
c.429T>G (p.Cys143Trp)
c.314-1107T>G (n.314-1107T>G)
c.152T>G
n.702T>G
n.669T>G
 ClinVar dbSNP
19g.11105458T=CA2322767483LDLRc.810T= (p.Cys270=)
c.552T= (p.Cys184=)
c.806T=
c.314-1934T= (n.314-1934T=)
c.429T= (p.Cys143=)
c.314-1107T= (n.314-1107T=)
c.152T=
n.702T=
n.669T=
19g.11105459A>CCA505743365LDLRc.811A>C (p.Arg271=)
c.553A>C (p.Arg185=)
c.807A>C
c.314-1933A>C (n.314-1933A>C)
c.430A>C (p.Arg144=)
c.314-1106A>C (n.314-1106A>C)
c.153A>C
n.703A>C
n.670A>C
19g.11105459A>GCA404077225LDLRc.811A>G (p.Arg271Gly)
c.553A>G (p.Arg185Gly)
c.807A>G
c.314-1933A>G (n.314-1933A>G)
c.430A>G (p.Arg144Gly)
c.314-1106A>G (n.314-1106A>G)
c.153A>G
n.703A>G
n.670A>G
 gnomAD v4
19g.11105459A>TCA404077229LDLRc.811A>T (p.Arg271Trp)
c.553A>T (p.Arg185Trp)
c.807A>T
c.314-1933A>T (n.314-1933A>T)
c.430A>T (p.Arg144Trp)
c.314-1106A>T (n.314-1106A>T)
c.153A>T
n.703A>T
n.670A>T
 ClinVar dbSNP gnomAD v4
19g.11105459_11105460delinsAGCA2322767484LDLRc.811_812delinsAG (p.Arg271=)
c.553_554delinsAG (p.Arg185=)
c.807_808delinsAG
c.314-1933_314-1932delinsAG (n.314-1933_314-1932delinsAG)
c.430_431delinsAG (p.Arg144=)
c.314-1106_314-1105delinsAG (n.314-1106_314-1105delinsAG)
c.153_154delinsAG
n.703_704delinsAG
n.670_671delinsAG
19g.11105460G>ACA404077242LDLRc.812G>A (p.Arg271Lys)
c.554G>A (p.Arg185Lys)
c.808G>A
c.314-1932G>A (n.314-1932G>A)
c.431G>A (p.Arg144Lys)
c.314-1105G>A (n.314-1105G>A)
c.154G>A
n.704G>A
n.671G>A
19g.11105460G>CCA404077245LDLRc.812G>C (p.Arg271Thr)
c.554G>C (p.Arg185Thr)
c.808G>C
c.314-1932G>C (n.314-1932G>C)
c.431G>C (p.Arg144Thr)
c.314-1105G>C (n.314-1105G>C)
c.154G>C
n.704G>C
n.671G>C
 gnomAD v4
19g.11105460G>TCA404077238LDLRc.812G>T (p.Arg271Met)
c.554G>T (p.Arg185Met)
c.808G>T
c.314-1932G>T (n.314-1932G>T)
c.431G>T (p.Arg144Met)
c.314-1105G>T (n.314-1105G>T)
c.154G>T
n.704G>T
n.671G>T
19g.11105463dupCA645509260LDLRc.815dup (p.Leu273SerfsTer9)
c.557dup (p.Leu187SerfsTer9)
c.811dup
c.314-1929dup (n.314-1929dup)
c.434dup (p.Leu146SerfsTer9)
c.314-1102dup (n.314-1102dup)
c.157dup
n.707dup
n.674dup
 ClinVar dbSNP
19g.11105463delCA10584986LDLRc.815del (p.Gly272ValfsTer20)
c.557del (p.Gly186ValfsTer20)
c.811del
c.314-1929del (n.314-1929del)
c.434del (p.Gly145ValfsTer20)
c.314-1102del (n.314-1102del)
c.157del
n.707del
n.674del
 ClinVar dbSNP
19g.11105461G>ACA505743370LDLRc.813G>A (p.Arg271=)
c.555G>A (p.Arg185=)
c.809G>A
c.314-1931G>A (n.314-1931G>A)
c.432G>A (p.Arg144=)
c.314-1104G>A (n.314-1104G>A)
c.155G>A
n.705G>A
n.672G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105461G>CCA404077250LDLRc.813G>C (p.Arg271Ser)
c.555G>C (p.Arg185Ser)
c.809G>C
c.314-1931G>C (n.314-1931G>C)
c.432G>C (p.Arg144Ser)
c.314-1104G>C (n.314-1104G>C)
c.155G>C
n.705G>C
n.672G>C
 dbSNP gnomAD v2 gnomAD v4
19g.11105461G=CA2322767485LDLRc.813G= (p.Arg271=)
c.555G= (p.Arg185=)
c.809G=
c.314-1931G= (n.314-1931G=)
c.432G= (p.Arg144=)
c.314-1104G= (n.314-1104G=)
c.155G=
n.705G=
n.672G=
19g.11105461G>TCA404077255LDLRc.813G>T (p.Arg271Ser)
c.555G>T (p.Arg185Ser)
c.809G>T
c.314-1931G>T (n.314-1931G>T)
c.432G>T (p.Arg144Ser)
c.314-1104G>T (n.314-1104G>T)
c.155G>T
n.705G>T
n.672G>T
19g.11105462G>ACA404077257LDLRc.814G>A (p.Gly272Ser)
c.556G>A (p.Gly186Ser)
c.810G>A
c.314-1930G>A (n.314-1930G>A)
c.433G>A (p.Gly145Ser)
c.314-1103G>A (n.314-1103G>A)
c.156G>A
n.706G>A
n.673G>A
 gnomAD v4
19g.11105462G>CCA404077259LDLRc.814G>C (p.Gly272Arg)
c.556G>C (p.Gly186Arg)
c.810G>C
c.314-1930G>C (n.314-1930G>C)
c.433G>C (p.Gly145Arg)
c.314-1103G>C (n.314-1103G>C)
c.156G>C
n.706G>C
n.673G>C
19g.11105462G>TCA404077261LDLRc.814G>T (p.Gly272Cys)
c.556G>T (p.Gly186Cys)
c.810G>T
c.314-1930G>T (n.314-1930G>T)
c.433G>T (p.Gly145Cys)
c.314-1103G>T (n.314-1103G>T)
c.156G>T
n.706G>T
n.673G>T
19g.11105463G>ACA404077265LDLRc.815G>A (p.Gly272Asp)
c.557G>A (p.Gly186Asp)
c.811G>A
c.314-1929G>A (n.314-1929G>A)
c.434G>A (p.Gly145Asp)
c.314-1102G>A (n.314-1102G>A)
c.157G>A
n.707G>A
n.674G>A
19g.11105463G>CCA404077268LDLRc.815G>C (p.Gly272Ala)
c.557G>C (p.Gly186Ala)
c.811G>C
c.314-1929G>C (n.314-1929G>C)
c.434G>C (p.Gly145Ala)
c.314-1102G>C (n.314-1102G>C)
c.157G>C
n.707G>C
n.674G>C
19g.11105463G>TCA404077285LDLRc.815G>T (p.Gly272Val)
c.557G>T (p.Gly186Val)
c.811G>T
c.314-1929G>T (n.314-1929G>T)
c.434G>T (p.Gly145Val)
c.314-1102G>T (n.314-1102G>T)
c.157G>T
n.707G>T
n.674G>T
19g.11105463_11105474delinsGTCTTTACGTGTCA2322767486LDLRc.815_826delinsGTCTTTACGTGT (p.Gly272=)
c.557_568delinsGTCTTTACGTGT (p.Gly186=)
c.811_822delinsGTCTTTACGTGT
c.314-1929_314-1918delinsGTCTTTACGTGT (n.314-1929_314-1918delinsGTCTTTACGTGT)
c.434_445delinsGTCTTTACGTGT (p.Gly145=)
c.314-1102_314-1091delinsGTCTTTACGTGT (n.314-1102_314-1091delinsGTCTTTACGTGT)
c.157_168delinsGTCTTTACGTGT
n.707_718delinsGTCTTTACGTGT
n.674_685delinsGTCTTTACGTGT
19g.11105464T>ACA505743376LDLRc.816T>A (p.Gly272=)
c.558T>A (p.Gly186=)
c.812T>A
c.314-1928T>A (n.314-1928T>A)
c.435T>A (p.Gly145=)
c.314-1101T>A (n.314-1101T>A)
c.158T>A
n.708T>A
n.675T>A
19g.11105464T>CCA505743374LDLRc.816T>C (p.Gly272=)
c.558T>C (p.Gly186=)
c.812T>C
c.314-1928T>C (n.314-1928T>C)
c.435T>C (p.Gly145=)
c.314-1101T>C (n.314-1101T>C)
c.158T>C
n.708T>C
n.675T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11105464T>GCA505743375LDLRc.816T>G (p.Gly272=)
c.558T>G (p.Gly186=)
c.812T>G
c.314-1928T>G (n.314-1928T>G)
c.435T>G (p.Gly145=)
c.314-1101T>G (n.314-1101T>G)
c.158T>G
n.708T>G
n.675T>G
19g.11105464T=CA2322767487LDLRc.816T= (p.Gly272=)
c.558T= (p.Gly186=)
c.812T=
c.314-1928T= (n.314-1928T=)
c.435T= (p.Gly145=)
c.314-1101T= (n.314-1101T=)
c.158T=
n.708T=
n.675T=
19g.11105465_11105468dupCA2695238654LDLRc.817_820dup (p.Tyr274SerfsTer9)
c.559_562dup (p.Tyr188SerfsTer9)
c.813_816dup
c.314-1927_314-1924dup (n.314-1927_314-1924dup)
c.436_439dup (p.Tyr147SerfsTer9)
c.314-1100_314-1097dup (n.314-1100_314-1097dup)
c.159_162dup
n.709_712dup
n.676_679dup
19g.11105466_11105476delCA1139666250LDLRc.818_828del (p.Leu273ProfsTer5)
c.560_570del (p.Leu187ProfsTer5)
c.814_824del
c.314-1926_314-1916del (n.314-1926_314-1916del)
c.437_447del (p.Leu146ProfsTer5)
c.314-1099_314-1089del (n.314-1099_314-1089del)
c.160_170del
n.710_720del
n.677_687del
 ClinVar dbSNP
19g.11105464_11105465insGCA10584987LDLRc.816_817insG (p.Leu273AlafsTer9)
c.558_559insG (p.Leu187AlafsTer9)
c.812_813insG
c.314-1928_314-1927insG (n.314-1928_314-1927insG)
c.435_436insG (p.Leu146AlafsTer9)
c.314-1101_314-1100insG (n.314-1101_314-1100insG)
c.158_159insG
n.708_709insG
n.675_676insG
 ClinVar dbSNP
19g.11105465C>ACA404077299LDLRc.817C>A (p.Leu273Ile)
c.559C>A (p.Leu187Ile)
c.813C>A
c.314-1927C>A (n.314-1927C>A)
c.436C>A (p.Leu146Ile)
c.314-1100C>A (n.314-1100C>A)
c.159C>A
n.709C>A
n.676C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11105465C=CA2322767489LDLRc.817C= (p.Leu273=)
c.559C= (p.Leu187=)
c.813C=
c.314-1927C= (n.314-1927C=)
c.436C= (p.Leu146=)
c.314-1100C= (n.314-1100C=)
c.159C=
n.709C=
n.676C=
19g.11105465C>GCA404077295LDLRc.817C>G (p.Leu273Val)
c.559C>G (p.Leu187Val)
c.813C>G
c.314-1927C>G (n.314-1927C>G)
c.436C>G (p.Leu146Val)
c.314-1100C>G (n.314-1100C>G)
c.159C>G
n.709C>G
n.676C>G
19g.11105465C>TCA404077291LDLRc.817C>T (p.Leu273Phe)
c.559C>T (p.Leu187Phe)
c.813C>T
c.314-1927C>T (n.314-1927C>T)
c.436C>T (p.Leu146Phe)
c.314-1100C>T (n.314-1100C>T)
c.159C>T
n.709C>T
n.676C>T
19g.11105465_11105467delinsCTTCA2322767488LDLRc.817_819delinsCTT (p.Leu273=)
c.559_561delinsCTT (p.Leu187=)
c.813_815delinsCTT
c.314-1927_314-1925delinsCTT (n.314-1927_314-1925delinsCTT)
c.436_438delinsCTT (p.Leu146=)
c.314-1100_314-1098delinsCTT (n.314-1100_314-1098delinsCTT)
c.159_161delinsCTT
n.709_711delinsCTT
n.676_678delinsCTT
19g.11105466T>ACA404077309LDLRc.818T>A (p.Leu273His)
c.560T>A (p.Leu187His)
c.814T>A
c.314-1926T>A (n.314-1926T>A)
c.437T>A (p.Leu146His)
c.314-1099T>A (n.314-1099T>A)
c.160T>A
n.710T>A
n.677T>A
19g.11105466T>CCA404077313LDLRc.818T>C (p.Leu273Pro)
c.560T>C (p.Leu187Pro)
c.814T>C
c.314-1926T>C (n.314-1926T>C)
c.437T>C (p.Leu146Pro)
c.314-1099T>C (n.314-1099T>C)
c.160T>C
n.710T>C
n.677T>C
19g.11105466T>GCA404077314LDLRc.818T>G (p.Leu273Arg)
c.560T>G (p.Leu187Arg)
c.814T>G
c.314-1926T>G (n.314-1926T>G)
c.437T>G (p.Leu146Arg)
c.314-1099T>G (n.314-1099T>G)
c.160T>G
n.710T>G
n.677T>G
19g.11105468delCA10584989LDLRc.820del (p.Tyr274ThrfsTer18)
c.562del (p.Tyr188ThrfsTer18)
c.816del
c.314-1924del (n.314-1924del)
c.439del (p.Tyr147ThrfsTer18)
c.314-1097del (n.314-1097del)
c.162del
n.712del
n.679del
 ClinVar dbSNP gnomAD v4
19g.11105467_11105468delCA10584988LDLRc.819_820del (p.Tyr274ArgfsTer7)
c.561_562del (p.Tyr188ArgfsTer7)
c.815_816del
c.314-1925_314-1924del (n.314-1925_314-1924del)
c.438_439del (p.Tyr147ArgfsTer7)
c.314-1098_314-1097del (n.314-1098_314-1097del)
c.161_162del
n.711_712del
n.678_679del
 ClinVar dbSNP
19g.11105467T>ACA505743379LDLRc.819T>A (p.Leu273=)
c.561T>A (p.Leu187=)
c.815T>A
c.314-1925T>A (n.314-1925T>A)
c.438T>A (p.Leu146=)
c.314-1098T>A (n.314-1098T>A)
c.161T>A
n.711T>A
n.678T>A
19g.11105467T>CCA505743380LDLRc.819T>C (p.Leu273=)
c.561T>C (p.Leu187=)
c.815T>C
c.314-1925T>C (n.314-1925T>C)
c.438T>C (p.Leu146=)
c.314-1098T>C (n.314-1098T>C)
c.161T>C
n.711T>C
n.678T>C
19g.11105467T>GCA505743381LDLRc.819T>G (p.Leu273=)
c.561T>G (p.Leu187=)
c.815T>G
c.314-1925T>G (n.314-1925T>G)
c.438T>G (p.Leu146=)
c.314-1098T>G (n.314-1098T>G)
c.161T>G
n.711T>G
n.678T>G
19g.11105469_11105475delCA2497030121LDLRc.821_827del (p.Tyr274SerfsTer16)
c.563_569del (p.Tyr188SerfsTer16)
c.817_823del
c.314-1923_314-1917del (n.314-1923_314-1917del)
c.440_446del (p.Tyr147SerfsTer16)
c.314-1096_314-1090del (n.314-1096_314-1090del)
c.163_169del
n.713_719del
n.680_686del

Number of alleles fetched