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.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.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.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.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.11106161_11107857delCA2573050584LDLRc.953-404_1198+343del
c.695-404_940+343del
c.949-404_1194+343del
c.314-1231_436+343del
c.572-404_817+343del
c.314-404_559+343del
c.295-404_540+343del
n.845-404_1090+343del
n.812-404_1057+343del
19g.11106209_11108573delCA10585092LDLRc.953-356_1198+1059del
c.695-356_940+1059del
c.949-356_1194+1059del
c.314-1183_436+1059del
c.572-356_817+1059del
c.314-356_559+1059del
c.295-356_540+1059del
n.845-356_1090+1059del
n.812-356_1057+1059del
 ClinVar
19g.11106498_11114133delCA404079331LDLRc.953-67_1844+371del
c.695-67_1586+371del
c.695-67_1466+371del
c.949-67_1840+371del
c.314-894_1082+371del
c.572-67_1463+371del
c.314-67_1205+371del
n.845-67_1736+371del
n.812-67_1703+371del
 ClinVar
19g.11106564_11107515delCA658824389LDLRc.953-1_1198+1del
c.695-1_940+1del
c.949-1_1194+1del
c.314-828_436+1del
c.572-1_817+1del
c.314-1_559+1del
n.209_456del
c.295-1_540+1del
n.845-1_1090+1del
n.812-1_1057+1del
 ClinVar
19g.11107413_11107422dupCA645509270LDLRc.1097_1106dup (p.Cys370GlnfsTer20)
c.839_848dup (p.Cys284GlnfsTer20)
c.1093_1102dup
c.335_344dup (p.Cys116GlnfsTer20)
c.716_725dup (p.Cys243GlnfsTer20)
c.458_467dup (p.Cys157GlnfsTer20)
n.354_363dup
c.439_448dup
n.989_998dup
n.956_965dup
 ClinVar dbSNP
19g.11107422A>CCA404080636LDLRc.1106A>C (p.Lys369Thr)
c.848A>C (p.Lys283Thr)
c.1102A>C
c.344A>C (p.Lys115Thr)
c.725A>C (p.Lys242Thr)
c.467A>C (p.Lys156Thr)
n.363A>C
c.448A>C
n.998A>C
n.965A>C
 ClinVar
19g.11107422A>GCA404080643LDLRc.1106A>G (p.Lys369Arg)
c.848A>G (p.Lys283Arg)
c.1102A>G
c.344A>G (p.Lys115Arg)
c.725A>G (p.Lys242Arg)
c.467A>G (p.Lys156Arg)
n.363A>G
c.448A>G
n.998A>G
n.965A>G
19g.11107422A>TCA404080645LDLRc.1106A>T (p.Lys369Met)
c.848A>T (p.Lys283Met)
c.1102A>T
c.344A>T (p.Lys115Met)
c.725A>T (p.Lys242Met)
c.467A>T (p.Lys156Met)
n.363A>T
c.448A>T
n.998A>T
n.965A>T
19g.11107423G>ACA505485069LDLRc.1107G>A (p.Lys369=)
c.849G>A (p.Lys283=)
c.1103G>A
c.345G>A (p.Lys115=)
c.726G>A (p.Lys242=)
c.468G>A (p.Lys156=)
n.364G>A
c.449G>A
n.999G>A
n.966G>A
19g.11107423G>CCA404080648LDLRc.1107G>C (p.Lys369Asn)
c.849G>C (p.Lys283Asn)
c.1103G>C
c.345G>C (p.Lys115Asn)
c.726G>C (p.Lys242Asn)
c.468G>C (p.Lys156Asn)
n.364G>C
c.449G>C
n.999G>C
n.966G>C
19g.11107423G>TCA404080649LDLRc.1107G>T (p.Lys369Asn)
c.849G>T (p.Lys283Asn)
c.1103G>T
c.345G>T (p.Lys115Asn)
c.726G>T (p.Lys242Asn)
c.468G>T (p.Lys156Asn)
n.364G>T
c.449G>T
n.999G>T
n.966G>T
19g.11107423_11107426delinsGTGTCA2322768583LDLRc.1107_1110delinsGTGT (p.Lys369=)
c.849_852delinsGTGT (p.Lys283=)
c.1103_1106delinsGTGT
c.345_348delinsGTGT (p.Lys115=)
c.726_729delinsGTGT (p.Lys242=)
c.468_471delinsGTGT (p.Lys156=)
n.364_367delinsGTGT
c.449_452delinsGTGT
n.999_1002delinsGTGT
n.966_969delinsGTGT
19g.11107424T>ACA10585157LDLRc.1108T>A (p.Cys370Ser)
c.850T>A (p.Cys284Ser)
c.1104T>A
c.346T>A (p.Cys116Ser)
c.727T>A (p.Cys243Ser)
c.469T>A (p.Cys157Ser)
n.365T>A
c.450T>A
n.1000T>A
n.967T>A
 ClinVar dbSNP
19g.11107424T>CCA10585158LDLRc.1108T>C (p.Cys370Arg)
c.850T>C (p.Cys284Arg)
c.1104T>C
c.346T>C (p.Cys116Arg)
c.727T>C (p.Cys243Arg)
c.469T>C (p.Cys157Arg)
n.365T>C
c.450T>C
n.1000T>C
n.967T>C
 ClinVar dbSNP
19g.11107424T>GCA10585159LDLRc.1108T>G (p.Cys370Gly)
c.850T>G (p.Cys284Gly)
c.1104T>G
c.346T>G (p.Cys116Gly)
c.727T>G (p.Cys243Gly)
c.469T>G (p.Cys157Gly)
n.365T>G
c.450T>G
n.1000T>G
n.967T>G
 ClinVar dbSNP
19g.11107424T=CA2322768584LDLRc.1108T= (p.Cys370=)
c.850T= (p.Cys284=)
c.1104T=
c.346T= (p.Cys116=)
c.727T= (p.Cys243=)
c.469T= (p.Cys157=)
n.365T=
c.450T=
n.1000T=
n.967T=
19g.11107424_11107426delCA1139666260LDLRc.1108_1110del (p.Cys370del)
c.850_852del (p.Cys284del)
c.1104_1106del
c.346_348del (p.Cys116del)
c.727_729del (p.Cys243del)
c.469_471del (p.Cys157del)
n.365_367del
c.450_452del
n.1000_1002del
n.967_969del
 ClinVar dbSNP
19g.11107425G>ACA404080656LDLRc.1109G>A (p.Cys370Tyr)
c.851G>A (p.Cys284Tyr)
c.1105G>A
c.347G>A (p.Cys116Tyr)
c.728G>A (p.Cys243Tyr)
c.470G>A (p.Cys157Tyr)
n.366G>A
c.451G>A
n.1001G>A
n.968G>A
 ClinVar
19g.11107425G>CCA10585160LDLRc.1109G>C (p.Cys370Ser)
c.851G>C (p.Cys284Ser)
c.1105G>C
c.347G>C (p.Cys116Ser)
c.728G>C (p.Cys243Ser)
c.470G>C (p.Cys157Ser)
n.366G>C
c.451G>C
n.1001G>C
n.968G>C
 ClinVar dbSNP
19g.11107425G=CA2322768585LDLRc.1109G= (p.Cys370=)
c.851G= (p.Cys284=)
c.1105G=
c.347G= (p.Cys116=)
c.728G= (p.Cys243=)
c.470G= (p.Cys157=)
n.366G=
c.451G=
n.1001G=
n.968G=
19g.11107425G>TCA404080659LDLRc.1109G>T (p.Cys370Phe)
c.851G>T (p.Cys284Phe)
c.1105G>T
c.347G>T (p.Cys116Phe)
c.728G>T (p.Cys243Phe)
c.470G>T (p.Cys157Phe)
n.366G>T
c.451G>T
n.1001G>T
n.968G>T
 ClinVar dbSNP
19g.11107426T>ACA404080663LDLRc.1110T>A (p.Cys370Ter)
c.852T>A (p.Cys284Ter)
c.1106T>A
c.348T>A (p.Cys116Ter)
c.729T>A (p.Cys243Ter)
c.471T>A (p.Cys157Ter)
n.367T>A
c.452T>A
n.1002T>A
n.969T>A
 ClinVar
19g.11107426T>CCA505485070LDLRc.1110T>C (p.Cys370=)
c.852T>C (p.Cys284=)
c.1106T>C
c.348T>C (p.Cys116=)
c.729T>C (p.Cys243=)
c.471T>C (p.Cys157=)
n.367T>C
c.452T>C
n.1002T>C
n.969T>C
 dbSNP gnomAD v4
19g.11107426T>GCA404080662LDLRc.1110T>G (p.Cys370Trp)
c.852T>G (p.Cys284Trp)
c.1106T>G
c.348T>G (p.Cys116Trp)
c.729T>G (p.Cys243Trp)
c.471T>G (p.Cys157Trp)
n.367T>G
c.452T>G
n.1002T>G
n.969T>G
19g.11107426T=CA2322768586LDLRc.1110T= (p.Cys370=)
c.852T= (p.Cys284=)
c.1106T=
c.348T= (p.Cys116=)
c.729T= (p.Cys243=)
c.471T= (p.Cys157=)
n.367T=
c.452T=
n.1002T=
n.969T=
19g.11107427C>ACA404080667LDLRc.1111C>A (p.His371Asn)
c.853C>A (p.His285Asn)
c.1107C>A
c.349C>A (p.His117Asn)
c.730C>A (p.His244Asn)
c.472C>A (p.His158Asn)
n.368C>A
c.453C>A
n.1003C>A
n.970C>A
19g.11107427C=CA2322768587LDLRc.1111C= (p.His371=)
c.853C= (p.His285=)
c.1107C=
c.349C= (p.His117=)
c.730C= (p.His244=)
c.472C= (p.His158=)
n.368C=
c.453C=
n.1003C=
n.970C=
19g.11107427C>GCA404080670LDLRc.1111C>G (p.His371Asp)
c.853C>G (p.His285Asp)
c.1107C>G
c.349C>G (p.His117Asp)
c.730C>G (p.His244Asp)
c.472C>G (p.His158Asp)
n.368C>G
c.453C>G
n.1003C>G
n.970C>G
19g.11107427C>TCA023780LDLRc.1111C>T (p.His371Tyr)
c.853C>T (p.His285Tyr)
c.1107C>T
c.349C>T (p.His117Tyr)
c.730C>T (p.His244Tyr)
c.472C>T (p.His158Tyr)
n.368C>T
c.453C>T
n.1003C>T
n.970C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107428A=CA2322768588LDLRc.1112A= (p.His371=)
c.854A= (p.His285=)
c.1108A=
c.350A= (p.His117=)
c.731A= (p.His244=)
c.473A= (p.His158=)
n.369A=
c.454A=
n.1004A=
n.971A=
19g.11107428A>CCA404080672LDLRc.1112A>C (p.His371Pro)
c.854A>C (p.His285Pro)
c.1108A>C
c.350A>C (p.His117Pro)
c.731A>C (p.His244Pro)
c.473A>C (p.His158Pro)
n.369A>C
c.454A>C
n.1004A>C
n.971A>C
19g.11107428A>GCA404080674LDLRc.1112A>G (p.His371Arg)
c.854A>G (p.His285Arg)
c.1108A>G
c.350A>G (p.His117Arg)
c.731A>G (p.His244Arg)
c.473A>G (p.His158Arg)
n.369A>G
c.454A>G
n.1004A>G
n.971A>G
 ClinVar dbSNP gnomAD v4
19g.11107428A>TCA404080676LDLRc.1112A>T (p.His371Leu)
c.854A>T (p.His285Leu)
c.1108A>T
c.350A>T (p.His117Leu)
c.731A>T (p.His244Leu)
c.473A>T (p.His158Leu)
n.369A>T
c.454A>T
n.1004A>T
n.971A>T
19g.11107429C>ACA10585161LDLRc.1113C>A (p.His371Gln)
c.855C>A (p.His285Gln)
c.1109C>A
c.351C>A (p.His117Gln)
c.732C>A (p.His244Gln)
c.474C>A (p.His158Gln)
n.370C>A
c.455C>A
n.1005C>A
n.972C>A
 ClinVar dbSNP gnomAD v4
19g.11107429C=CA2322768589LDLRc.1113C= (p.His371=)
c.855C= (p.His285=)
c.1109C=
c.351C= (p.His117=)
c.732C= (p.His244=)
c.474C= (p.His158=)
n.370C=
c.455C=
n.1005C=
n.972C=
19g.11107429C>GCA404080680LDLRc.1113C>G (p.His371Gln)
c.855C>G (p.His285Gln)
c.1109C>G
c.351C>G (p.His117Gln)
c.732C>G (p.His244Gln)
c.474C>G (p.His158Gln)
n.370C>G
c.455C>G
n.1005C>G
n.972C>G
19g.11107429C>TCA505485071LDLRc.1113C>T (p.His371=)
c.855C>T (p.His285=)
c.1109C>T
c.351C>T (p.His117=)
c.732C>T (p.His244=)
c.474C>T (p.His158=)
n.370C>T
c.455C>T
n.1005C>T
n.972C>T
 dbSNP gnomAD v4
19g.11107430A=CA2322768590LDLRc.1114A= (p.Ser372=)
c.856A= (p.Ser286=)
c.1110A=
c.352A= (p.Ser118=)
c.733A= (p.Ser245=)
c.475A= (p.Ser159=)
n.371A=
c.456A=
n.1006A=
n.973A=
19g.11107430A>CCA404080682LDLRc.1114A>C (p.Ser372Arg)
c.856A>C (p.Ser286Arg)
c.1110A>C
c.352A>C (p.Ser118Arg)
c.733A>C (p.Ser245Arg)
c.475A>C (p.Ser159Arg)
n.371A>C
c.456A>C
n.1006A>C
n.973A>C
19g.11107430A>GCA404080689LDLRc.1114A>G (p.Ser372Gly)
c.856A>G (p.Ser286Gly)
c.1110A>G
c.352A>G (p.Ser118Gly)
c.733A>G (p.Ser245Gly)
c.475A>G (p.Ser159Gly)
n.371A>G
c.456A>G
n.1006A>G
n.973A>G
 ClinVar dbSNP

Number of alleles fetched