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.11107403G>ACA023775LDLRc.1087G>A (p.Glu363Lys)
c.829G>A (p.Glu277Lys)
c.1083G>A
c.325G>A (p.Glu109Lys)
c.706G>A (p.Glu236Lys)
c.448G>A (p.Glu150Lys)
n.344G>A
c.429G>A
n.979G>A
n.946G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.[11107403G>A;11113359T>C]CA645373253LDLRc.[1087G>A;1526T>C] (p.[Glu363Lys;Ile509Thr])
c.[829G>A;1268T>C] (p.[Glu277Lys;Ile423Thr])
c.[829G>A;1148T>C] (p.[Glu277Lys;Ile383Thr])
c.[1083G>A;1522T>C]
c.[325G>A;764T>C] (p.[Glu109Lys;Ile255Thr])
c.[706G>A;1145T>C] (p.[Glu236Lys;Ile382Thr])
c.[448G>A;887T>C] (p.[Glu150Lys;Ile296Thr])
c.[429G>A;748T>C]
n.[979G>A;1418T>C]
n.[946G>A;1385T>C]
 ClinVar
19g.11107403G>CCA404080523LDLRc.1087G>C (p.Glu363Gln)
c.829G>C (p.Glu277Gln)
c.1083G>C
c.325G>C (p.Glu109Gln)
c.706G>C (p.Glu236Gln)
c.448G>C (p.Glu150Gln)
n.344G>C
c.429G>C
n.979G>C
n.946G>C
19g.11107403G=CA2322768571LDLRc.1087G= (p.Glu363=)
c.829G= (p.Glu277=)
c.1083G=
c.325G= (p.Glu109=)
c.706G= (p.Glu236=)
c.448G= (p.Glu150=)
n.344G=
c.429G=
n.979G=
n.946G=
19g.11107403G>TCA404080521LDLRc.1087G>T (p.Glu363Ter)
c.829G>T (p.Glu277Ter)
c.1083G>T
c.325G>T (p.Glu109Ter)
c.706G>T (p.Glu236Ter)
c.448G>T (p.Glu150Ter)
n.344G>T
c.429G>T
n.979G>T
n.946G>T
 ClinVar dbSNP
19g.11107404A>CCA404080526LDLRc.1088A>C (p.Glu363Ala)
c.830A>C (p.Glu277Ala)
c.1084A>C
c.326A>C (p.Glu109Ala)
c.707A>C (p.Glu236Ala)
c.449A>C (p.Glu150Ala)
n.345A>C
c.430A>C
n.980A>C
n.947A>C
19g.11107404A>GCA404080527LDLRc.1088A>G (p.Glu363Gly)
c.830A>G (p.Glu277Gly)
c.1084A>G
c.326A>G (p.Glu109Gly)
c.707A>G (p.Glu236Gly)
c.449A>G (p.Glu150Gly)
n.345A>G
c.430A>G
n.980A>G
n.947A>G
 gnomAD v4
19g.11107404A>TCA404080530LDLRc.1088A>T (p.Glu363Val)
c.830A>T (p.Glu277Val)
c.1084A>T
c.326A>T (p.Glu109Val)
c.707A>T (p.Glu236Val)
c.449A>T (p.Glu150Val)
n.345A>T
c.430A>T
n.980A>T
n.947A>T
19g.11107405G>ACA505485059LDLRc.1089G>A (p.Glu363=)
c.831G>A (p.Glu277=)
c.1085G>A
c.327G>A (p.Glu109=)
c.708G>A (p.Glu236=)
c.450G>A (p.Glu150=)
n.346G>A
c.431G>A
n.981G>A
n.948G>A
 COSMIC
19g.11107405G>CCA029826LDLRc.1089G>C (p.Glu363Asp)
c.831G>C (p.Glu277Asp)
c.1085G>C
c.327G>C (p.Glu109Asp)
c.708G>C (p.Glu236Asp)
c.450G>C (p.Glu150Asp)
n.346G>C
c.431G>C
n.981G>C
n.948G>C
 dbSNP ExAC gnomAD v2
19g.11107405G=CA2322768572LDLRc.1089G= (p.Glu363=)
c.831G= (p.Glu277=)
c.1085G=
c.327G= (p.Glu109=)
c.708G= (p.Glu236=)
c.450G= (p.Glu150=)
n.346G=
c.431G=
n.981G=
n.948G=
19g.11107405G>TCA404080534LDLRc.1089G>T (p.Glu363Asp)
c.831G>T (p.Glu277Asp)
c.1085G>T
c.327G>T (p.Glu109Asp)
c.708G>T (p.Glu236Asp)
c.450G>T (p.Glu150Asp)
n.346G>T
c.431G>T
n.981G>T
n.948G>T
19g.11107406G>ACA404080538LDLRc.1090G>A (p.Gly364Arg)
c.832G>A (p.Gly278Arg)
c.1086G>A
c.328G>A (p.Gly110Arg)
c.709G>A (p.Gly237Arg)
c.451G>A (p.Gly151Arg)
n.347G>A
c.432G>A
n.982G>A
n.949G>A
19g.11107406G>CCA404080540LDLRc.1090G>C (p.Gly364Arg)
c.832G>C (p.Gly278Arg)
c.1086G>C
c.328G>C (p.Gly110Arg)
c.709G>C (p.Gly237Arg)
c.451G>C (p.Gly151Arg)
n.347G>C
c.432G>C
n.982G>C
n.949G>C
 gnomAD v4
19g.11107406G=CA2322768573LDLRc.1090G= (p.Gly364=)
c.832G= (p.Gly278=)
c.1086G=
c.328G= (p.Gly110=)
c.709G= (p.Gly237=)
c.451G= (p.Gly151=)
n.347G=
c.432G=
n.982G=
n.949G=
19g.11107406G>TCA404080543LDLRc.1090G>T (p.Gly364Ter)
c.832G>T (p.Gly278Ter)
c.1086G>T
c.328G>T (p.Gly110Ter)
c.709G>T (p.Gly237Ter)
c.451G>T (p.Gly151Ter)
n.347G>T
c.432G>T
n.982G>T
n.949G>T
 ClinVar dbSNP gnomAD v4
19g.11107407G>ACA404080545LDLRc.1091G>A (p.Gly364Glu)
c.833G>A (p.Gly278Glu)
c.1087G>A
c.329G>A (p.Gly110Glu)
c.710G>A (p.Gly237Glu)
c.452G>A (p.Gly151Glu)
n.348G>A
c.433G>A
n.983G>A
n.950G>A
19g.11107407G>CCA404080548LDLRc.1091G>C (p.Gly364Ala)
c.833G>C (p.Gly278Ala)
c.1087G>C
c.329G>C (p.Gly110Ala)
c.710G>C (p.Gly237Ala)
c.452G>C (p.Gly151Ala)
n.348G>C
c.433G>C
n.983G>C
n.950G>C
19g.11107407G>TCA404080551LDLRc.1091G>T (p.Gly364Val)
c.833G>T (p.Gly278Val)
c.1087G>T
c.329G>T (p.Gly110Val)
c.710G>T (p.Gly237Val)
c.452G>T (p.Gly151Val)
n.348G>T
c.433G>T
n.983G>T
n.950G>T
19g.11107408A>CCA505485060LDLRc.1092A>C (p.Gly364=)
c.834A>C (p.Gly278=)
c.1088A>C
c.330A>C (p.Gly110=)
c.711A>C (p.Gly237=)
c.453A>C (p.Gly151=)
n.349A>C
c.434A>C
n.984A>C
n.951A>C
19g.11107408A>GCA505485061LDLRc.1092A>G (p.Gly364=)
c.834A>G (p.Gly278=)
c.1088A>G
c.330A>G (p.Gly110=)
c.711A>G (p.Gly237=)
c.453A>G (p.Gly151=)
n.349A>G
c.434A>G
n.984A>G
n.951A>G
19g.11107408A>TCA505485062LDLRc.1092A>T (p.Gly364=)
c.834A>T (p.Gly278=)
c.1088A>T
c.330A>T (p.Gly110=)
c.711A>T (p.Gly237=)
c.453A>T (p.Gly151=)
n.349A>T
c.434A>T
n.984A>T
n.951A>T
19g.11107409C>ACA404080559LDLRc.1093C>A (p.Pro365Thr)
c.835C>A (p.Pro279Thr)
c.1089C>A
c.331C>A (p.Pro111Thr)
c.712C>A (p.Pro238Thr)
c.454C>A (p.Pro152Thr)
n.350C>A
c.435C>A
n.985C>A
n.952C>A
19g.11107409C=CA2322768574LDLRc.1093C= (p.Pro365=)
c.835C= (p.Pro279=)
c.1089C=
c.331C= (p.Pro111=)
c.712C= (p.Pro238=)
c.454C= (p.Pro152=)
n.350C=
c.435C=
n.985C=
n.952C=
19g.11107409C>GCA404080556LDLRc.1093C>G (p.Pro365Ala)
c.835C>G (p.Pro279Ala)
c.1089C>G
c.331C>G (p.Pro111Ala)
c.712C>G (p.Pro238Ala)
c.454C>G (p.Pro152Ala)
n.350C>G
c.435C>G
n.985C>G
n.952C>G
19g.11107409C>TCA404080554LDLRc.1093C>T (p.Pro365Ser)
c.835C>T (p.Pro279Ser)
c.1089C>T
c.331C>T (p.Pro111Ser)
c.712C>T (p.Pro238Ser)
c.454C>T (p.Pro152Ser)
n.350C>T
c.435C>T
n.985C>T
n.952C>T
 ClinVar dbSNP
19g.11107410C>ACA305298509LDLRc.1094C>A (p.Pro365His)
c.836C>A (p.Pro279His)
c.1090C>A
c.332C>A (p.Pro111His)
c.713C>A (p.Pro238His)
c.455C>A (p.Pro152His)
n.351C>A
c.436C>A
n.986C>A
n.953C>A
 dbSNP gnomAD v4
19g.11107410C=CA2322768575LDLRc.1094C= (p.Pro365=)
c.836C= (p.Pro279=)
c.1090C=
c.332C= (p.Pro111=)
c.713C= (p.Pro238=)
c.455C= (p.Pro152=)
n.351C=
c.436C=
n.986C=
n.953C=
19g.11107410C>GCA404080563LDLRc.1094C>G (p.Pro365Arg)
c.836C>G (p.Pro279Arg)
c.1090C>G
c.332C>G (p.Pro111Arg)
c.713C>G (p.Pro238Arg)
c.455C>G (p.Pro152Arg)
n.351C>G
c.436C>G
n.986C>G
n.953C>G
19g.11107410C>TCA404080564LDLRc.1094C>T (p.Pro365Leu)
c.836C>T (p.Pro279Leu)
c.1090C>T
c.332C>T (p.Pro111Leu)
c.713C>T (p.Pro238Leu)
c.455C>T (p.Pro152Leu)
n.351C>T
c.436C>T
n.986C>T
n.953C>T
19g.11107411C>ACA505485063LDLRc.1095C>A (p.Pro365=)
c.837C>A (p.Pro279=)
c.1091C>A
c.333C>A (p.Pro111=)
c.714C>A (p.Pro238=)
c.456C>A (p.Pro152=)
n.352C>A
c.437C>A
n.987C>A
n.954C>A
19g.11107411C=CA2322768576LDLRc.1095C= (p.Pro365=)
c.837C= (p.Pro279=)
c.1091C=
c.333C= (p.Pro111=)
c.714C= (p.Pro238=)
c.456C= (p.Pro152=)
n.352C=
c.437C=
n.987C=
n.954C=
19g.11107411C>GCA505485064LDLRc.1095C>G (p.Pro365=)
c.837C>G (p.Pro279=)
c.1091C>G
c.333C>G (p.Pro111=)
c.714C>G (p.Pro238=)
c.456C>G (p.Pro152=)
n.352C>G
c.437C>G
n.987C>G
n.954C>G
 gnomAD v4
19g.11107411C>TCA505485065LDLRc.1095C>T (p.Pro365=)
c.837C>T (p.Pro279=)
c.1091C>T
c.333C>T (p.Pro111=)
c.714C>T (p.Pro238=)
c.456C>T (p.Pro152=)
n.352C>T
c.437C>T
n.987C>T
n.954C>T
19g.11107412A>CCA404080566LDLRc.1096A>C (p.Asn366His)
c.838A>C (p.Asn280His)
c.1092A>C
c.334A>C (p.Asn112His)
c.715A>C (p.Asn239His)
c.457A>C (p.Asn153His)
n.353A>C
c.438A>C
n.988A>C
n.955A>C
19g.11107412A>GCA404080569LDLRc.1096A>G (p.Asn366Asp)
c.838A>G (p.Asn280Asp)
c.1092A>G
c.334A>G (p.Asn112Asp)
c.715A>G (p.Asn239Asp)
c.457A>G (p.Asn153Asp)
n.353A>G
c.438A>G
n.988A>G
n.955A>G
19g.11107412A>TCA404080571LDLRc.1096A>T (p.Asn366Tyr)
c.838A>T (p.Asn280Tyr)
c.1092A>T
c.334A>T (p.Asn112Tyr)
c.715A>T (p.Asn239Tyr)
c.457A>T (p.Asn153Tyr)
n.353A>T
c.438A>T
n.988A>T
n.955A>T
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.11107413A>CCA404080574LDLRc.1097A>C (p.Asn366Thr)
c.839A>C (p.Asn280Thr)
c.1093A>C
c.335A>C (p.Asn112Thr)
c.716A>C (p.Asn239Thr)
c.458A>C (p.Asn153Thr)
n.354A>C
c.439A>C
n.989A>C
n.956A>C
19g.11107413A>GCA404080576LDLRc.1097A>G (p.Asn366Ser)
c.839A>G (p.Asn280Ser)
c.1093A>G
c.335A>G (p.Asn112Ser)
c.716A>G (p.Asn239Ser)
c.458A>G (p.Asn153Ser)
n.354A>G
c.439A>G
n.989A>G
n.956A>G
19g.11107413A>TCA404080578LDLRc.1097A>T (p.Asn366Ile)
c.839A>T (p.Asn280Ile)
c.1093A>T
c.335A>T (p.Asn112Ile)
c.716A>T (p.Asn239Ile)
c.458A>T (p.Asn153Ile)
n.354A>T
c.439A>T
n.989A>T
n.956A>T
 gnomAD v4
19g.11107414C>ACA404080580LDLRc.1098C>A (p.Asn366Lys)
c.840C>A (p.Asn280Lys)
c.1094C>A
c.336C>A (p.Asn112Lys)
c.717C>A (p.Asn239Lys)
c.459C>A (p.Asn153Lys)
n.355C>A
c.440C>A
n.990C>A
n.957C>A
19g.11107414C=CA2322768577LDLRc.1098C= (p.Asn366=)
c.840C= (p.Asn280=)
c.1094C=
c.336C= (p.Asn112=)
c.717C= (p.Asn239=)
c.459C= (p.Asn153=)
n.355C=
c.440C=
n.990C=
n.957C=
19g.11107414C>GCA404080582LDLRc.1098C>G (p.Asn366Lys)
c.840C>G (p.Asn280Lys)
c.1094C>G
c.336C>G (p.Asn112Lys)
c.717C>G (p.Asn239Lys)
c.459C>G (p.Asn153Lys)
n.355C>G
c.440C>G
n.990C>G
n.957C>G
19g.11107414C>TCA505485066LDLRc.1098C>T (p.Asn366=)
c.840C>T (p.Asn280=)
c.1094C>T
c.336C>T (p.Asn112=)
c.717C>T (p.Asn239=)
c.459C>T (p.Asn153=)
n.355C>T
c.440C>T
n.990C>T
n.957C>T
 gnomAD v4
19g.11107414_11107415insTCA645509271LDLRc.1098_1099insT (p.Lys367Ter)
c.840_841insT (p.Lys281Ter)
c.1094_1095insT
c.336_337insT (p.Lys113Ter)
c.717_718insT (p.Lys240Ter)
c.459_460insT (p.Lys154Ter)
n.355_356insT
c.440_441insT
n.990_991insT
n.957_958insT
 ClinVar dbSNP
19g.11107415A>CCA404080592LDLRc.1099A>C (p.Lys367Gln)
c.841A>C (p.Lys281Gln)
c.1095A>C
c.337A>C (p.Lys113Gln)
c.718A>C (p.Lys240Gln)
c.460A>C (p.Lys154Gln)
n.356A>C
c.441A>C
n.991A>C
n.958A>C
 gnomAD v4
19g.11107415A>GCA404080589LDLRc.1099A>G (p.Lys367Glu)
c.841A>G (p.Lys281Glu)
c.1095A>G
c.337A>G (p.Lys113Glu)
c.718A>G (p.Lys240Glu)
c.460A>G (p.Lys154Glu)
n.356A>G
c.441A>G
n.991A>G
n.958A>G
19g.11107415A>TCA404080586LDLRc.1099A>T (p.Lys367Ter)
c.841A>T (p.Lys281Ter)
c.1095A>T
c.337A>T (p.Lys113Ter)
c.718A>T (p.Lys240Ter)
c.460A>T (p.Lys154Ter)
n.356A>T
c.441A>T
n.991A>T
n.958A>T
19g.11107416delCA2695238669LDLRc.1100del (p.Lys367SerfsTer?)
c.842del (p.Lys281SerfsTer?)
c.1096del
c.338del (p.Lys113SerfsTer?)
c.719del (p.Lys240SerfsTer?)
c.461del (p.Lys154SerfsTer?)
n.357del
c.442del
n.992del
n.959del
19g.11107416A>CCA404080596LDLRc.1100A>C (p.Lys367Thr)
c.842A>C (p.Lys281Thr)
c.1096A>C
c.338A>C (p.Lys113Thr)
c.719A>C (p.Lys240Thr)
c.461A>C (p.Lys154Thr)
n.357A>C
c.442A>C
n.992A>C
n.959A>C
19g.11107416A>GCA404080599LDLRc.1100A>G (p.Lys367Arg)
c.842A>G (p.Lys281Arg)
c.1096A>G
c.338A>G (p.Lys113Arg)
c.719A>G (p.Lys240Arg)
c.461A>G (p.Lys154Arg)
n.357A>G
c.442A>G
n.992A>G
n.959A>G
19g.11107416A>TCA404080600LDLRc.1100A>T (p.Lys367Met)
c.842A>T (p.Lys281Met)
c.1096A>T
c.338A>T (p.Lys113Met)
c.719A>T (p.Lys240Met)
c.461A>T (p.Lys154Met)
n.357A>T
c.442A>T
n.992A>T
n.959A>T
19g.11107417G>ACA029857LDLRc.1101G>A (p.Lys367=)
c.843G>A (p.Lys281=)
c.1097G>A
c.339G>A (p.Lys113=)
c.720G>A (p.Lys240=)
c.462G>A (p.Lys154=)
n.358G>A
c.443G>A
n.993G>A
n.960G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107417G>CCA404080605LDLRc.1101G>C (p.Lys367Asn)
c.843G>C (p.Lys281Asn)
c.1097G>C
c.339G>C (p.Lys113Asn)
c.720G>C (p.Lys240Asn)
c.462G>C (p.Lys154Asn)
n.358G>C
c.443G>C
n.993G>C
n.960G>C
19g.11107417G=CA2322768578LDLRc.1101G= (p.Lys367=)
c.843G= (p.Lys281=)
c.1097G=
c.339G= (p.Lys113=)
c.720G= (p.Lys240=)
c.462G= (p.Lys154=)
n.358G=
c.443G=
n.993G=
n.960G=
19g.11107417G>TCA404080607LDLRc.1101G>T (p.Lys367Asn)
c.843G>T (p.Lys281Asn)
c.1097G>T
c.339G>T (p.Lys113Asn)
c.720G>T (p.Lys240Asn)
c.462G>T (p.Lys154Asn)
n.358G>T
c.443G>T
n.993G>T
n.960G>T
19g.11107417_11107418insGGACCA1139666259LDLRc.1101_1102insGGAC (p.Phe368GlyfsTer20)
c.843_844insGGAC (p.Phe282GlyfsTer20)
c.1097_1098insGGAC
c.339_340insGGAC (p.Phe114GlyfsTer20)
c.720_721insGGAC (p.Phe241GlyfsTer20)
c.462_463insGGAC (p.Phe155GlyfsTer20)
n.358_359insGGAC
c.443_444insGGAC
n.993_994insGGAC
n.960_961insGGAC
 ClinVar dbSNP
19g.11107418T>ACA404080616LDLRc.1102T>A (p.Phe368Ile)
c.844T>A (p.Phe282Ile)
c.1098T>A
c.340T>A (p.Phe114Ile)
c.721T>A (p.Phe241Ile)
c.463T>A (p.Phe155Ile)
n.359T>A
c.444T>A
n.994T>A
n.961T>A
19g.11107418T>CCA404080610LDLRc.1102T>C (p.Phe368Leu)
c.844T>C (p.Phe282Leu)
c.1098T>C
c.340T>C (p.Phe114Leu)
c.721T>C (p.Phe241Leu)
c.463T>C (p.Phe155Leu)
n.359T>C
c.444T>C
n.994T>C
n.961T>C
 ClinVar dbSNP
19g.11107418T>GCA404080613LDLRc.1102T>G (p.Phe368Val)
c.844T>G (p.Phe282Val)
c.1098T>G
c.340T>G (p.Phe114Val)
c.721T>G (p.Phe241Val)
c.463T>G (p.Phe155Val)
n.359T>G
c.444T>G
n.994T>G
n.961T>G
 gnomAD v4
19g.11107418T=CA2322768579LDLRc.1102T= (p.Phe368=)
c.844T= (p.Phe282=)
c.1098T=
c.340T= (p.Phe114=)
c.721T= (p.Phe241=)
c.463T= (p.Phe155=)
n.359T=
c.444T=
n.994T=
n.961T=
19g.11107419T>ACA404080620LDLRc.1103T>A (p.Phe368Tyr)
c.845T>A (p.Phe282Tyr)
c.1099T>A
c.341T>A (p.Phe114Tyr)
c.722T>A (p.Phe241Tyr)
c.464T>A (p.Phe155Tyr)
n.360T>A
c.445T>A
n.995T>A
n.962T>A
 ClinVar
19g.11107419T>CCA404080622LDLRc.1103T>C (p.Phe368Ser)
c.845T>C (p.Phe282Ser)
c.1099T>C
c.341T>C (p.Phe114Ser)
c.722T>C (p.Phe241Ser)
c.464T>C (p.Phe155Ser)
n.360T>C
c.445T>C
n.995T>C
n.962T>C
 ClinVar dbSNP gnomAD v4
19g.11107419T>GCA404080624LDLRc.1103T>G (p.Phe368Cys)
c.845T>G (p.Phe282Cys)
c.1099T>G
c.341T>G (p.Phe114Cys)
c.722T>G (p.Phe241Cys)
c.464T>G (p.Phe155Cys)
n.360T>G
c.445T>G
n.995T>G
n.962T>G
 ClinVar dbSNP
19g.11107419T=CA2322768580LDLRc.1103T= (p.Phe368=)
c.845T= (p.Phe282=)
c.1099T=
c.341T= (p.Phe114=)
c.722T= (p.Phe241=)
c.464T= (p.Phe155=)
n.360T=
c.445T=
n.995T=
n.962T=
19g.11107420C>ACA023778LDLRc.1104C>A (p.Phe368Leu)
c.846C>A (p.Phe282Leu)
c.1100C>A
c.342C>A (p.Phe114Leu)
c.723C>A (p.Phe241Leu)
c.465C>A (p.Phe155Leu)
n.361C>A
c.446C>A
n.996C>A
n.963C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107420C=CA2322768581LDLRc.1104C= (p.Phe368=)
c.846C= (p.Phe282=)
c.1100C=
c.342C= (p.Phe114=)
c.723C= (p.Phe241=)
c.465C= (p.Phe155=)
n.361C=
c.446C=
n.996C=
n.963C=
19g.11107420C>GCA404080626LDLRc.1104C>G (p.Phe368Leu)
c.846C>G (p.Phe282Leu)
c.1100C>G
c.342C>G (p.Phe114Leu)
c.723C>G (p.Phe241Leu)
c.465C>G (p.Phe155Leu)
n.361C>G
c.446C>G
n.996C>G
n.963C>G
19g.11107420C>TCA505485068LDLRc.1104C>T (p.Phe368=)
c.846C>T (p.Phe282=)
c.1100C>T
c.342C>T (p.Phe114=)
c.723C>T (p.Phe241=)
c.465C>T (p.Phe155=)
n.361C>T
c.446C>T
n.996C>T
n.963C>T
19g.11107421A=CA2322768582LDLRc.1105A= (p.Lys369=)
c.847A= (p.Lys283=)
c.1101A=
c.343A= (p.Lys115=)
c.724A= (p.Lys242=)
c.466A= (p.Lys156=)
n.362A=
c.447A=
n.997A=
n.964A=
19g.11107421A>CCA404080629LDLRc.1105A>C (p.Lys369Gln)
c.847A>C (p.Lys283Gln)
c.1101A>C
c.343A>C (p.Lys115Gln)
c.724A>C (p.Lys242Gln)
c.466A>C (p.Lys156Gln)
n.362A>C
c.447A>C
n.997A>C
n.964A>C
19g.11107421A>GCA404080633LDLRc.1105A>G (p.Lys369Glu)
c.847A>G (p.Lys283Glu)
c.1101A>G
c.343A>G (p.Lys115Glu)
c.724A>G (p.Lys242Glu)
c.466A>G (p.Lys156Glu)
n.362A>G
c.447A>G
n.997A>G
n.964A>G
19g.11107421A>TCA404080631LDLRc.1105A>T (p.Lys369Ter)
c.847A>T (p.Lys283Ter)
c.1101A>T
c.343A>T (p.Lys115Ter)
c.724A>T (p.Lys242Ter)
c.466A>T (p.Lys156Ter)
n.362A>T
c.447A>T
n.997A>T
n.964A>T
 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
19g.11107430A>TCA404080691LDLRc.1114A>T (p.Ser372Cys)
c.856A>T (p.Ser286Cys)
c.1110A>T
c.352A>T (p.Ser118Cys)
c.733A>T (p.Ser245Cys)
c.475A>T (p.Ser159Cys)
n.371A>T
c.456A>T
n.1006A>T
n.973A>T
19g.11107431G>ACA404080693LDLRc.1115G>A (p.Ser372Asn)
c.857G>A (p.Ser286Asn)
c.1111G>A
c.353G>A (p.Ser118Asn)
c.734G>A (p.Ser245Asn)
c.476G>A (p.Ser159Asn)
n.372G>A
c.457G>A
n.1007G>A
n.974G>A
19g.11107431G>CCA404080695LDLRc.1115G>C (p.Ser372Thr)
c.857G>C (p.Ser286Thr)
c.1111G>C
c.353G>C (p.Ser118Thr)
c.734G>C (p.Ser245Thr)
c.476G>C (p.Ser159Thr)
n.372G>C
c.457G>C
n.1007G>C
n.974G>C
19g.11107431G>TCA404080696LDLRc.1115G>T (p.Ser372Ile)
c.857G>T (p.Ser286Ile)
c.1111G>T
c.353G>T (p.Ser118Ile)
c.734G>T (p.Ser245Ile)
c.476G>T (p.Ser159Ile)
n.372G>T
c.457G>T
n.1007G>T
n.974G>T
19g.11107432C>ACA029904LDLRc.1116C>A (p.Ser372Arg)
c.858C>A (p.Ser286Arg)
c.1112C>A
c.354C>A (p.Ser118Arg)
c.735C>A (p.Ser245Arg)
c.477C>A (p.Ser159Arg)
n.373C>A
c.458C>A
n.1008C>A
n.975C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107432C=CA2322768591LDLRc.1116C= (p.Ser372=)
c.858C= (p.Ser286=)
c.1112C=
c.354C= (p.Ser118=)
c.735C= (p.Ser245=)
c.477C= (p.Ser159=)
n.373C=
c.458C=
n.1008C=
n.975C=
19g.11107432C>GCA404080699LDLRc.1116C>G (p.Ser372Arg)
c.858C>G (p.Ser286Arg)
c.1112C>G
c.354C>G (p.Ser118Arg)
c.735C>G (p.Ser245Arg)
c.477C>G (p.Ser159Arg)
n.373C>G
c.458C>G
n.1008C>G
n.975C>G
19g.11107432C>TCA029921LDLRc.1116C>T (p.Ser372=)
c.858C>T (p.Ser286=)
c.1112C>T
c.354C>T (p.Ser118=)
c.735C>T (p.Ser245=)
c.477C>T (p.Ser159=)
n.373C>T
c.458C>T
n.1008C>T
n.975C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107432_11107433delinsCGCA2322768592LDLRc.1116_1117delinsCG (p.Ser372=)
c.858_859delinsCG (p.Ser286=)
c.1112_1113delinsCG
c.354_355delinsCG (p.Ser118=)
c.735_736delinsCG (p.Ser245=)
c.477_478delinsCG (p.Ser159=)
n.373_374delinsCG
c.458_459delinsCG
n.1008_1009delinsCG
n.975_976delinsCG
19g.11107433G>ACA023782LDLRc.1117G>A (p.Gly373Ser)
c.859G>A (p.Gly287Ser)
c.1113G>A
c.355G>A (p.Gly119Ser)
c.736G>A (p.Gly246Ser)
c.478G>A (p.Gly160Ser)
n.374G>A
c.459G>A
n.1009G>A
n.976G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107433G>CCA404080727LDLRc.1117G>C (p.Gly373Arg)
c.859G>C (p.Gly287Arg)
c.1113G>C
c.355G>C (p.Gly119Arg)
c.736G>C (p.Gly246Arg)
c.478G>C (p.Gly160Arg)
n.374G>C
c.459G>C
n.1009G>C
n.976G>C
19g.11107433G=CA2322768593LDLRc.1117G= (p.Gly373=)
c.859G= (p.Gly287=)
c.1113G=
c.355G= (p.Gly119=)
c.736G= (p.Gly246=)
c.478G= (p.Gly160=)
n.374G=
c.459G=
n.1009G=
n.976G=
19g.11107433G>TCA10585162LDLRc.1117G>T (p.Gly373Cys)
c.859G>T (p.Gly287Cys)
c.1113G>T
c.355G>T (p.Gly119Cys)
c.736G>T (p.Gly246Cys)
c.478G>T (p.Gly160Cys)
n.374G>T
c.459G>T
n.1009G>T
n.976G>T
 ClinVar dbSNP
19g.11107434delCA645373254LDLRc.1118del (p.Gly373AlafsTer?)
c.860del (p.Gly287AlafsTer?)
c.1114del
c.356del (p.Gly119AlafsTer?)
c.737del (p.Gly246AlafsTer?)
c.479del (p.Gly160AlafsTer?)
n.375del
c.460del
n.1010del
n.977del
 ClinVar dbSNP
19g.11107434G>ACA404080735LDLRc.1118G>A (p.Gly373Asp)
c.860G>A (p.Gly287Asp)
c.1114G>A
c.356G>A (p.Gly119Asp)
c.737G>A (p.Gly246Asp)
c.479G>A (p.Gly160Asp)
n.375G>A
c.460G>A
n.1010G>A
n.977G>A
19g.11107434G>CCA404080741LDLRc.1118G>C (p.Gly373Ala)
c.860G>C (p.Gly287Ala)
c.1114G>C
c.356G>C (p.Gly119Ala)
c.737G>C (p.Gly246Ala)
c.479G>C (p.Gly160Ala)
n.375G>C
c.460G>C
n.1010G>C
n.977G>C
19g.11107434G>TCA404080743LDLRc.1118G>T (p.Gly373Val)
c.860G>T (p.Gly287Val)
c.1114G>T
c.356G>T (p.Gly119Val)
c.737G>T (p.Gly246Val)
c.479G>T (p.Gly160Val)
n.375G>T
c.460G>T
n.1010G>T
n.977G>T
19g.11107435C>ACA505485072LDLRc.1119C>A (p.Gly373=)
c.861C>A (p.Gly287=)
c.1115C>A
c.357C>A (p.Gly119=)
c.738C>A (p.Gly246=)
c.480C>A (p.Gly160=)
n.376C>A
c.461C>A
n.1011C>A
n.978C>A
19g.11107435C=CA2322768594LDLRc.1119C= (p.Gly373=)
c.861C= (p.Gly287=)
c.1115C=
c.357C= (p.Gly119=)
c.738C= (p.Gly246=)
c.480C= (p.Gly160=)
n.376C=
c.461C=
n.1011C=
n.978C=
19g.11107435C>GCA505485073LDLRc.1119C>G (p.Gly373=)
c.861C>G (p.Gly287=)
c.1115C>G
c.357C>G (p.Gly119=)
c.738C>G (p.Gly246=)
c.480C>G (p.Gly160=)
n.376C>G
c.461C>G
n.1011C>G
n.978C>G
19g.11107435C>TCA029955LDLRc.1119C>T (p.Gly373=)
c.861C>T (p.Gly287=)
c.1115C>T
c.357C>T (p.Gly119=)
c.738C>T (p.Gly246=)
c.480C>T (p.Gly160=)
n.376C>T
c.461C>T
n.1011C>T
n.978C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107436G>ACA023783LDLRc.1120G>A (p.Glu374Lys)
c.862G>A (p.Glu288Lys)
c.1116G>A
c.358G>A (p.Glu120Lys)
c.739G>A (p.Glu247Lys)
c.481G>A (p.Glu161Lys)
n.377G>A
c.462G>A
n.1012G>A
n.979G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11107436G>CCA404080752LDLRc.1120G>C (p.Glu374Gln)
c.862G>C (p.Glu288Gln)
c.1116G>C
c.358G>C (p.Glu120Gln)
c.739G>C (p.Glu247Gln)
c.481G>C (p.Glu161Gln)
n.377G>C
c.462G>C
n.1012G>C
n.979G>C
19g.11107436G=CA2322768595LDLRc.1120G= (p.Glu374=)
c.862G= (p.Glu288=)
c.1116G=
c.358G= (p.Glu120=)
c.739G= (p.Glu247=)
c.481G= (p.Glu161=)
n.377G=
c.462G=
n.1012G=
n.979G=
19g.11107436G>TCA10585163LDLRc.1120G>T (p.Glu374Ter)
c.862G>T (p.Glu288Ter)
c.1116G>T
c.358G>T (p.Glu120Ter)
c.739G>T (p.Glu247Ter)
c.481G>T (p.Glu161Ter)
n.377G>T
c.462G>T
n.1012G>T
n.979G>T
 ClinVar dbSNP
19g.11107437A>CCA404080759LDLRc.1121A>C (p.Glu374Ala)
c.863A>C (p.Glu288Ala)
c.1117A>C
c.359A>C (p.Glu120Ala)
c.740A>C (p.Glu247Ala)
c.482A>C (p.Glu161Ala)
n.378A>C
c.463A>C
n.1013A>C
n.980A>C
19g.11107437A>GCA404080762LDLRc.1121A>G (p.Glu374Gly)
c.863A>G (p.Glu288Gly)
c.1117A>G
c.359A>G (p.Glu120Gly)
c.740A>G (p.Glu247Gly)
c.482A>G (p.Glu161Gly)
n.378A>G
c.463A>G
n.1013A>G
n.980A>G
19g.11107437A>TCA404080766LDLRc.1121A>T (p.Glu374Val)
c.863A>T (p.Glu288Val)
c.1117A>T
c.359A>T (p.Glu120Val)
c.740A>T (p.Glu247Val)
c.482A>T (p.Glu161Val)
n.378A>T
c.463A>T
n.1013A>T
n.980A>T
19g.11107438A>CCA404080769LDLRc.1122A>C (p.Glu374Asp)
c.864A>C (p.Glu288Asp)
c.1118A>C
c.360A>C (p.Glu120Asp)
c.741A>C (p.Glu247Asp)
c.483A>C (p.Glu161Asp)
n.379A>C
c.464A>C
n.1014A>C
n.981A>C
19g.11107438A>GCA505485074LDLRc.1122A>G (p.Glu374=)
c.864A>G (p.Glu288=)
c.1118A>G
c.360A>G (p.Glu120=)
c.741A>G (p.Glu247=)
c.483A>G (p.Glu161=)
n.379A>G
c.464A>G
n.1014A>G
n.981A>G
19g.11107438A>TCA404080767LDLRc.1122A>T (p.Glu374Asp)
c.864A>T (p.Glu288Asp)
c.1118A>T
c.360A>T (p.Glu120Asp)
c.741A>T (p.Glu247Asp)
c.483A>T (p.Glu161Asp)
n.379A>T
c.464A>T
n.1014A>T
n.981A>T
19g.11107438_11107439delinsATCA2322768596LDLRc.1122_1123delinsAT (p.Glu374=)
c.864_865delinsAT (p.Glu288=)
c.1118_1119delinsAT
c.360_361delinsAT (p.Glu120=)
c.741_742delinsAT (p.Glu247=)
c.483_484delinsAT (p.Glu161=)
n.379_380delinsAT
c.464_465delinsAT
n.1014_1015delinsAT
n.981_982delinsAT
19g.11107439delCA10585165LDLRc.1123del (p.Cys375AlafsTer?)
c.865del (p.Cys289AlafsTer?)
c.1119del
c.361del (p.Cys121AlafsTer?)
c.742del (p.Cys248AlafsTer?)
c.484del (p.Cys162AlafsTer?)
n.380del
c.465del
n.1015del
n.982del
 ClinVar dbSNP
19g.11107439T>ACA404080775LDLRc.1123T>A (p.Cys375Ser)
c.865T>A (p.Cys289Ser)
c.1119T>A
c.361T>A (p.Cys121Ser)
c.742T>A (p.Cys248Ser)
c.484T>A (p.Cys162Ser)
n.380T>A
c.465T>A
n.1015T>A
n.982T>A
19g.11107439T>CCA10585164LDLRc.1123T>C (p.Cys375Arg)
c.865T>C (p.Cys289Arg)
c.1119T>C
c.361T>C (p.Cys121Arg)
c.742T>C (p.Cys248Arg)
c.484T>C (p.Cys162Arg)
n.380T>C
c.465T>C
n.1015T>C
n.982T>C
 ClinVar dbSNP
19g.11107439T>GCA404080780LDLRc.1123T>G (p.Cys375Gly)
c.865T>G (p.Cys289Gly)
c.1119T>G
c.361T>G (p.Cys121Gly)
c.742T>G (p.Cys248Gly)
c.484T>G (p.Cys162Gly)
n.380T>G
c.465T>G
n.1015T>G
n.982T>G
 ClinVar dbSNP
19g.11107439T=CA2322768597LDLRc.1123T= (p.Cys375=)
c.865T= (p.Cys289=)
c.1119T=
c.361T= (p.Cys121=)
c.742T= (p.Cys248=)
c.484T= (p.Cys162=)
n.380T=
c.465T=
n.1015T=
n.982T=
19g.11107440G>ACA404080788LDLRc.1124G>A (p.Cys375Tyr)
c.866G>A (p.Cys289Tyr)
c.1120G>A
c.362G>A (p.Cys121Tyr)
c.743G>A (p.Cys248Tyr)
c.485G>A (p.Cys162Tyr)
n.381G>A
c.466G>A
n.1016G>A
n.983G>A
 ClinVar dbSNP
19g.11107440G>CCA404080791LDLRc.1124G>C (p.Cys375Ser)
c.866G>C (p.Cys289Ser)
c.1120G>C
c.362G>C (p.Cys121Ser)
c.743G>C (p.Cys248Ser)
c.485G>C (p.Cys162Ser)
n.381G>C
c.466G>C
n.1016G>C
n.983G>C
 gnomAD v4
19g.11107440G=CA2322768598LDLRc.1124G= (p.Cys375=)
c.866G= (p.Cys289=)
c.1120G=
c.362G= (p.Cys121=)
c.743G= (p.Cys248=)
c.485G= (p.Cys162=)
n.381G=
c.466G=
n.1016G=
n.983G=
19g.11107440G>TCA404080793LDLRc.1124G>T (p.Cys375Phe)
c.866G>T (p.Cys289Phe)
c.1120G>T
c.362G>T (p.Cys121Phe)
c.743G>T (p.Cys248Phe)
c.485G>T (p.Cys162Phe)
n.381G>T
c.466G>T
n.1016G>T
n.983G>T
19g.11107441C>ACA404080801LDLRc.1125C>A (p.Cys375Ter)
c.867C>A (p.Cys289Ter)
c.1121C>A
c.363C>A (p.Cys121Ter)
c.744C>A (p.Cys248Ter)
c.486C>A (p.Cys162Ter)
n.382C>A
c.467C>A
n.1017C>A
n.984C>A
 ClinVar
19g.11107441C>GCA404080804LDLRc.1125C>G (p.Cys375Trp)
c.867C>G (p.Cys289Trp)
c.1121C>G
c.363C>G (p.Cys121Trp)
c.744C>G (p.Cys248Trp)
c.486C>G (p.Cys162Trp)
n.382C>G
c.467C>G
n.1017C>G
n.984C>G
19g.11107441C>TCA505485075LDLRc.1125C>T (p.Cys375=)
c.867C>T (p.Cys289=)
c.1121C>T
c.363C>T (p.Cys121=)
c.744C>T (p.Cys248=)
c.486C>T (p.Cys162=)
n.382C>T
c.467C>T
n.1017C>T
n.984C>T
 ClinVar gnomAD v4
19g.11107443_11107445dupCA10585167LDLRc.1127_1129dup (p.Ile376_Thr377insIle)
c.869_871dup (p.Ile290_Thr291insIle)
c.1123_1125dup
c.365_367dup (p.Ile122_Thr123insIle)
c.746_748dup (p.Ile249_Thr250insIle)
c.488_490dup (p.Ile163_Thr164insIle)
n.384_386dup
c.469_471dup
n.1019_1021dup
n.986_988dup
 ClinVar dbSNP
19g.11107442A>CCA404080808LDLRc.1126A>C (p.Ile376Leu)
c.868A>C (p.Ile290Leu)
c.1122A>C
c.364A>C (p.Ile122Leu)
c.745A>C (p.Ile249Leu)
c.487A>C (p.Ile163Leu)
n.383A>C
c.468A>C
n.1018A>C
n.985A>C
19g.11107442A>GCA404080813LDLRc.1126A>G (p.Ile376Val)
c.868A>G (p.Ile290Val)
c.1122A>G
c.364A>G (p.Ile122Val)
c.745A>G (p.Ile249Val)
c.487A>G (p.Ile163Val)
n.383A>G
c.468A>G
n.1018A>G
n.985A>G
19g.11107442A>TCA404080816LDLRc.1126A>T (p.Ile376Phe)
c.868A>T (p.Ile290Phe)
c.1122A>T
c.364A>T (p.Ile122Phe)
c.745A>T (p.Ile249Phe)
c.487A>T (p.Ile163Phe)
n.383A>T
c.468A>T
n.1018A>T
n.985A>T
19g.11107443T>ACA404080819LDLRc.1127T>A (p.Ile376Asn)
c.869T>A (p.Ile290Asn)
c.1123T>A
c.365T>A (p.Ile122Asn)
c.746T>A (p.Ile249Asn)
c.488T>A (p.Ile163Asn)
n.384T>A
c.469T>A
n.1019T>A
n.986T>A
19g.11107443T>CCA404080822LDLRc.1127T>C (p.Ile376Thr)
c.869T>C (p.Ile290Thr)
c.1123T>C
c.365T>C (p.Ile122Thr)
c.746T>C (p.Ile249Thr)
c.488T>C (p.Ile163Thr)
n.384T>C
c.469T>C
n.1019T>C
n.986T>C
19g.11107443T>GCA10585166LDLRc.1127T>G (p.Ile376Ser)
c.869T>G (p.Ile290Ser)
c.1123T>G
c.365T>G (p.Ile122Ser)
c.746T>G (p.Ile249Ser)
c.488T>G (p.Ile163Ser)
n.384T>G
c.469T>G
n.1019T>G
n.986T>G
 ClinVar dbSNP
19g.11107443T=CA2322768599LDLRc.1127T= (p.Ile376=)
c.869T= (p.Ile290=)
c.1123T=
c.365T= (p.Ile122=)
c.746T= (p.Ile249=)
c.488T= (p.Ile163=)
n.384T=
c.469T=
n.1019T=
n.986T=
19g.11107444C>ACA505485077LDLRc.1128C>A (p.Ile376=)
c.870C>A (p.Ile290=)
c.1124C>A
c.366C>A (p.Ile122=)
c.747C>A (p.Ile249=)
c.489C>A (p.Ile163=)
n.385C>A
c.470C>A
n.1020C>A
n.987C>A
19g.11107444C>GCA404080827LDLRc.1128C>G (p.Ile376Met)
c.870C>G (p.Ile290Met)
c.1124C>G
c.366C>G (p.Ile122Met)
c.747C>G (p.Ile249Met)
c.489C>G (p.Ile163Met)
n.385C>G
c.470C>G
n.1020C>G
n.987C>G
19g.11107444C>TCA505485076LDLRc.1128C>T (p.Ile376=)
c.870C>T (p.Ile290=)
c.1124C>T
c.366C>T (p.Ile122=)
c.747C>T (p.Ile249=)
c.489C>T (p.Ile163=)
n.385C>T
c.470C>T
n.1020C>T
n.987C>T
19g.11107445A=CA2322768600LDLRc.1129A= (p.Thr377=)
c.871A= (p.Thr291=)
c.1125A=
c.367A= (p.Thr123=)
c.748A= (p.Thr250=)
c.490A= (p.Thr164=)
n.386A=
c.471A=
n.1021A=
n.988A=
19g.11107445A>CCA029979LDLRc.1129A>C (p.Thr377Pro)
c.871A>C (p.Thr291Pro)
c.1125A>C
c.367A>C (p.Thr123Pro)
c.748A>C (p.Thr250Pro)
c.490A>C (p.Thr164Pro)
n.386A>C
c.471A>C
n.1021A>C
n.988A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107445A>GCA404080832LDLRc.1129A>G (p.Thr377Ala)
c.871A>G (p.Thr291Ala)
c.1125A>G
c.367A>G (p.Thr123Ala)
c.748A>G (p.Thr250Ala)
c.490A>G (p.Thr164Ala)
n.386A>G
c.471A>G
n.1021A>G
n.988A>G
19g.11107445A>TCA404080829LDLRc.1129A>T (p.Thr377Ser)
c.871A>T (p.Thr291Ser)
c.1125A>T
c.367A>T (p.Thr123Ser)
c.748A>T (p.Thr250Ser)
c.490A>T (p.Thr164Ser)
n.386A>T
c.471A>T
n.1021A>T
n.988A>T
19g.11107445_11107446delinsACCA2322768601LDLRc.1129_1130delinsAC (p.Thr377=)
c.871_872delinsAC (p.Thr291=)
c.1125_1126delinsAC
c.367_368delinsAC (p.Thr123=)
c.748_749delinsAC (p.Thr250=)
c.490_491delinsAC (p.Thr164=)
n.386_387delinsAC
c.471_472delinsAC
n.1021_1022delinsAC
n.988_989delinsAC
19g.11107446C>ACA404080840LDLRc.1130C>A (p.Thr377Asn)
c.872C>A (p.Thr291Asn)
c.1126C>A
c.368C>A (p.Thr123Asn)
c.749C>A (p.Thr250Asn)
c.491C>A (p.Thr164Asn)
n.387C>A
c.472C>A
n.1022C>A
n.989C>A
19g.11107446C>GCA404080844LDLRc.1130C>G (p.Thr377Ser)
c.872C>G (p.Thr291Ser)
c.1126C>G
c.368C>G (p.Thr123Ser)
c.749C>G (p.Thr250Ser)
c.491C>G (p.Thr164Ser)
n.387C>G
c.472C>G
n.1022C>G
n.989C>G
19g.11107446C>TCA404080847LDLRc.1130C>T (p.Thr377Ile)
c.872C>T (p.Thr291Ile)
c.1126C>T
c.368C>T (p.Thr123Ile)
c.749C>T (p.Thr250Ile)
c.491C>T (p.Thr164Ile)
n.387C>T
c.472C>T
n.1022C>T
n.989C>T
19g.11107448delCA10585168LDLRc.1132del (p.Leu378TrpfsTer?)
c.874del (p.Leu292TrpfsTer?)
c.1128del
c.370del (p.Leu124TrpfsTer?)
c.751del (p.Leu251TrpfsTer?)
c.493del (p.Leu165TrpfsTer?)
n.389del
c.474del
n.1024del
n.991del
 ClinVar dbSNP
19g.11107447C>ACA505485078LDLRc.1131C>A (p.Thr377=)
c.873C>A (p.Thr291=)
c.1127C>A
c.369C>A (p.Thr123=)
c.750C>A (p.Thr250=)
c.492C>A (p.Thr164=)
n.388C>A
c.473C>A
n.1023C>A
n.990C>A
 ClinVar gnomAD v4
19g.11107447C>GCA505485079LDLRc.1131C>G (p.Thr377=)
c.873C>G (p.Thr291=)
c.1127C>G
c.369C>G (p.Thr123=)
c.750C>G (p.Thr250=)
c.492C>G (p.Thr164=)
n.388C>G
c.473C>G
n.1023C>G
n.990C>G
19g.11107447C>TCA505485080LDLRc.1131C>T (p.Thr377=)
c.873C>T (p.Thr291=)
c.1127C>T
c.369C>T (p.Thr123=)
c.750C>T (p.Thr250=)
c.492C>T (p.Thr164=)
n.388C>T
c.473C>T
n.1023C>T
n.990C>T
 ClinVar
19g.11107448C>ACA404080852LDLRc.1132C>A (p.Leu378Met)
c.874C>A (p.Leu292Met)
c.1128C>A
c.370C>A (p.Leu124Met)
c.751C>A (p.Leu251Met)
c.493C>A (p.Leu165Met)
n.389C>A
c.474C>A
n.1024C>A
n.991C>A
19g.11107448C=CA2322768602LDLRc.1132C= (p.Leu378=)
c.874C= (p.Leu292=)
c.1128C=
c.370C= (p.Leu124=)
c.751C= (p.Leu251=)
c.493C= (p.Leu165=)
n.389C=
c.474C=
n.1024C=
n.991C=
19g.11107448C>GCA404080856LDLRc.1132C>G (p.Leu378Val)
c.874C>G (p.Leu292Val)
c.1128C>G
c.370C>G (p.Leu124Val)
c.751C>G (p.Leu251Val)
c.493C>G (p.Leu165Val)
n.389C>G
c.474C>G
n.1024C>G
n.991C>G
19g.11107448C>TCA029996LDLRc.1132C>T (p.Leu378=)
c.874C>T (p.Leu292=)
c.1128C>T
c.370C>T (p.Leu124=)
c.751C>T (p.Leu251=)
c.493C>T (p.Leu165=)
n.389C>T
c.474C>T
n.1024C>T
n.991C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107449T>ACA404080868LDLRc.1133T>A (p.Leu378Gln)
c.875T>A (p.Leu292Gln)
c.1129T>A
c.371T>A (p.Leu124Gln)
c.752T>A (p.Leu251Gln)
c.494T>A (p.Leu165Gln)
n.390T>A
c.475T>A
n.1025T>A
n.992T>A
 gnomAD v4
19g.11107449T>CCA404080872LDLRc.1133T>C (p.Leu378Pro)
c.875T>C (p.Leu292Pro)
c.1129T>C
c.371T>C (p.Leu124Pro)
c.752T>C (p.Leu251Pro)
c.494T>C (p.Leu165Pro)
n.390T>C
c.475T>C
n.1025T>C
n.992T>C
19g.11107449T>GCA404080875LDLRc.1133T>G (p.Leu378Arg)
c.875T>G (p.Leu292Arg)
c.1129T>G
c.371T>G (p.Leu124Arg)
c.752T>G (p.Leu251Arg)
c.494T>G (p.Leu165Arg)
n.390T>G
c.475T>G
n.1025T>G
n.992T>G
19g.11107449dupCA10585169LDLRc.1133dup (p.Asp379GlyfsTer8)
c.875dup (p.Asp293GlyfsTer8)
c.1129dup
c.371dup (p.Asp125GlyfsTer8)
c.752dup (p.Asp252GlyfsTer8)
c.494dup (p.Asp166GlyfsTer8)
n.390dup
c.475dup
n.1025dup
n.992dup
 ClinVar dbSNP
19g.11107449_11107450delinsTGCA2322768603LDLRc.1133_1134delinsTG (p.Leu378=)
c.875_876delinsTG (p.Leu292=)
c.1129_1130delinsTG
c.371_372delinsTG (p.Leu124=)
c.752_753delinsTG (p.Leu251=)
c.494_495delinsTG (p.Leu165=)
n.390_391delinsTG
c.475_476delinsTG
n.1025_1026delinsTG
n.992_993delinsTG
19g.11107450G>ACA505485083LDLRc.1134G>A (p.Leu378=)
c.876G>A (p.Leu292=)
c.1130G>A
c.372G>A (p.Leu124=)
c.753G>A (p.Leu251=)
c.495G>A (p.Leu165=)
n.391G>A
c.476G>A
n.1026G>A
n.993G>A
 dbSNP gnomAD v4
19g.11107450G>CCA505485082LDLRc.1134G>C (p.Leu378=)
c.876G>C (p.Leu292=)
c.1130G>C
c.372G>C (p.Leu124=)
c.753G>C (p.Leu251=)
c.495G>C (p.Leu165=)
n.391G>C
c.476G>C
n.1026G>C
n.993G>C
19g.11107450G>TCA505485081LDLRc.1134G>T (p.Leu378=)
c.876G>T (p.Leu292=)
c.1130G>T
c.372G>T (p.Leu124=)
c.753G>T (p.Leu251=)
c.495G>T (p.Leu165=)
n.391G>T
c.476G>T
n.1026G>T
n.993G>T
 gnomAD v4
19g.11107451dupCA2695228119LDLRc.1135dup (p.Asp379GlyfsTer8)
c.877dup (p.Asp293GlyfsTer8)
c.1131dup
c.373dup (p.Asp125GlyfsTer8)
c.754dup (p.Asp252GlyfsTer8)
c.496dup (p.Asp166GlyfsTer8)
n.392dup
c.477dup
n.1027dup
n.994dup
19g.11107451delCA10585170LDLRc.1135del (p.Asp379ThrfsTer?)
c.877del (p.Asp293ThrfsTer?)
c.1131del
c.373del (p.Asp125ThrfsTer?)
c.754del (p.Asp252ThrfsTer?)
c.496del (p.Asp166ThrfsTer?)
n.392del
c.477del
n.1027del
n.994del
 ClinVar dbSNP
19g.11107451G>ACA404080883LDLRc.1135G>A (p.Asp379Asn)
c.877G>A (p.Asp293Asn)
c.1131G>A
c.373G>A (p.Asp125Asn)
c.754G>A (p.Asp252Asn)
c.496G>A (p.Asp166Asn)
n.392G>A
c.477G>A
n.1027G>A
n.994G>A
19g.11107451G>CCA404080886LDLRc.1135G>C (p.Asp379His)
c.877G>C (p.Asp293His)
c.1131G>C
c.373G>C (p.Asp125His)
c.754G>C (p.Asp252His)
c.496G>C (p.Asp166His)
n.392G>C
c.477G>C
n.1027G>C
n.994G>C
19g.11107451G>TCA404080889LDLRc.1135G>T (p.Asp379Tyr)
c.877G>T (p.Asp293Tyr)
c.1131G>T
c.373G>T (p.Asp125Tyr)
c.754G>T (p.Asp252Tyr)
c.496G>T (p.Asp166Tyr)
n.392G>T
c.477G>T
n.1027G>T
n.994G>T
19g.11107452A>CCA404080895LDLRc.1136A>C (p.Asp379Ala)
c.878A>C (p.Asp293Ala)
c.1132A>C
c.374A>C (p.Asp125Ala)
c.755A>C (p.Asp252Ala)
c.497A>C (p.Asp166Ala)
n.393A>C
c.478A>C
n.1028A>C
n.995A>C
19g.11107452A>GCA404080893LDLRc.1136A>G (p.Asp379Gly)
c.878A>G (p.Asp293Gly)
c.1132A>G
c.374A>G (p.Asp125Gly)
c.755A>G (p.Asp252Gly)
c.497A>G (p.Asp166Gly)
n.393A>G
c.478A>G
n.1028A>G
n.995A>G
19g.11107452A>TCA404080898LDLRc.1136A>T (p.Asp379Val)
c.878A>T (p.Asp293Val)
c.1132A>T
c.374A>T (p.Asp125Val)
c.755A>T (p.Asp252Val)
c.497A>T (p.Asp166Val)
n.393A>T
c.478A>T
n.1028A>T
n.995A>T
19g.11107453C>ACA404080901LDLRc.1137C>A (p.Asp379Glu)
c.879C>A (p.Asp293Glu)
c.1133C>A
c.375C>A (p.Asp125Glu)
c.756C>A (p.Asp252Glu)
c.498C>A (p.Asp166Glu)
n.394C>A
c.479C>A
n.1029C>A
n.996C>A
19g.11107453C>GCA404080903LDLRc.1137C>G (p.Asp379Glu)
c.879C>G (p.Asp293Glu)
c.1133C>G
c.375C>G (p.Asp125Glu)
c.756C>G (p.Asp252Glu)
c.498C>G (p.Asp166Glu)
n.394C>G
c.479C>G
n.1029C>G
n.996C>G
19g.11107453C>TCA505485084LDLRc.1137C>T (p.Asp379=)
c.879C>T (p.Asp293=)
c.1133C>T
c.375C>T (p.Asp125=)
c.756C>T (p.Asp252=)
c.498C>T (p.Asp166=)
n.394C>T
c.479C>T
n.1029C>T
n.996C>T
19g.11107453_11107455delinsCAACA2322768604LDLRc.1137_1139delinsCAA (p.Asp379=)
c.879_881delinsCAA (p.Asp293=)
c.1133_1135delinsCAA
c.375_377delinsCAA (p.Asp125=)
c.756_758delinsCAA (p.Asp252=)
c.498_500delinsCAA (p.Asp166=)
n.394_396delinsCAA
c.479_481delinsCAA
n.1029_1031delinsCAA
n.996_998delinsCAA
19g.11107454A=CA2322768605LDLRc.1138A= (p.Lys380=)
c.880A= (p.Lys294=)
c.1134A=
c.376A= (p.Lys126=)
c.757A= (p.Lys253=)
c.499A= (p.Lys167=)
n.395A=
c.480A=
n.1030A=
n.997A=
19g.11107454A>CCA404080906LDLRc.1138A>C (p.Lys380Gln)
c.880A>C (p.Lys294Gln)
c.1134A>C
c.376A>C (p.Lys126Gln)
c.757A>C (p.Lys253Gln)
c.499A>C (p.Lys167Gln)
n.395A>C
c.480A>C
n.1030A>C
n.997A>C
19g.11107454A>GCA10585171LDLRc.1138A>G (p.Lys380Glu)
c.880A>G (p.Lys294Glu)
c.1134A>G
c.376A>G (p.Lys126Glu)
c.757A>G (p.Lys253Glu)
c.499A>G (p.Lys167Glu)
n.395A>G
c.480A>G
n.1030A>G
n.997A>G
 ClinVar dbSNP
19g.11107454A>TCA404080909LDLRc.1138A>T (p.Lys380Ter)
c.880A>T (p.Lys294Ter)
c.1134A>T
c.376A>T (p.Lys126Ter)
c.757A>T (p.Lys253Ter)
c.499A>T (p.Lys167Ter)
n.395A>T
c.480A>T
n.1030A>T
n.997A>T
19g.11107455_11107456delCA10585172LDLRc.1139_1140del (p.Lys380SerfsTer6)
c.881_882del (p.Lys294SerfsTer6)
c.1135_1136del
c.377_378del (p.Lys126SerfsTer6)
c.758_759del (p.Lys253SerfsTer6)
c.500_501del (p.Lys167SerfsTer6)
n.396_397del
c.481_482del
n.1031_1032del
n.998_999del
 ClinVar dbSNP
19g.11107455A=CA2322768606LDLRc.1139A= (p.Lys380=)
c.881A= (p.Lys294=)
c.1135A=
c.377A= (p.Lys126=)
c.758A= (p.Lys253=)
c.500A= (p.Lys167=)
n.396A=
c.481A=
n.1031A=
n.998A=
19g.11107455A>CCA404080911LDLRc.1139A>C (p.Lys380Thr)
c.881A>C (p.Lys294Thr)
c.1135A>C
c.377A>C (p.Lys126Thr)
c.758A>C (p.Lys253Thr)
c.500A>C (p.Lys167Thr)
n.396A>C
c.481A>C
n.1031A>C
n.998A>C
19g.11107455A>GCA305298511LDLRc.1139A>G (p.Lys380Arg)
c.881A>G (p.Lys294Arg)
c.1135A>G
c.377A>G (p.Lys126Arg)
c.758A>G (p.Lys253Arg)
c.500A>G (p.Lys167Arg)
n.396A>G
c.481A>G
n.1031A>G
n.998A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11107455A>TCA404080913LDLRc.1139A>T (p.Lys380Ile)
c.881A>T (p.Lys294Ile)
c.1135A>T
c.377A>T (p.Lys126Ile)
c.758A>T (p.Lys253Ile)
c.500A>T (p.Lys167Ile)
n.396A>T
c.481A>T
n.1031A>T
n.998A>T
19g.11107455_11107457delinsAAGCA2322768607LDLRc.1139_1141delinsAAG (p.Lys380=)
c.881_883delinsAAG (p.Lys294=)
c.1135_1137delinsAAG
c.377_379delinsAAG (p.Lys126=)
c.758_760delinsAAG (p.Lys253=)
c.500_502delinsAAG (p.Lys167=)
n.396_398delinsAAG
c.481_483delinsAAG
n.1031_1033delinsAAG
n.998_1000delinsAAG
19g.11107455_11107456insCATGTCTAGTCTCTCA2582473987LDLRc.1139_1140insCATGTCTAGTCTCT (p.Lys380AsnfsTer6)
c.881_882insCATGTCTAGTCTCT (p.Lys294AsnfsTer6)
c.1135_1136insCATGTCTAGTCTCT
c.377_378insCATGTCTAGTCTCT (p.Lys126AsnfsTer6)
c.758_759insCATGTCTAGTCTCT (p.Lys253AsnfsTer6)
c.500_501insCATGTCTAGTCTCT (p.Lys167AsnfsTer6)
n.396_397insCATGTCTAGTCTCT
c.481_482insCATGTCTAGTCTCT
n.1031_1032insCATGTCTAGTCTCT
n.998_999insCATGTCTAGTCTCT
 gnomAD v4
19g.11107456A>CCA404080914LDLRc.1140A>C (p.Lys380Asn)
c.882A>C (p.Lys294Asn)
c.1136A>C
c.378A>C (p.Lys126Asn)
c.759A>C (p.Lys253Asn)
c.501A>C (p.Lys167Asn)
n.397A>C
c.482A>C
n.1032A>C
n.999A>C
 gnomAD v4
19g.11107456A>GCA505485085LDLRc.1140A>G (p.Lys380=)
c.882A>G (p.Lys294=)
c.1136A>G
c.378A>G (p.Lys126=)
c.759A>G (p.Lys253=)
c.501A>G (p.Lys167=)
n.397A>G
c.482A>G
n.1032A>G
n.999A>G
19g.11107456A>TCA404080917LDLRc.1140A>T (p.Lys380Asn)
c.882A>T (p.Lys294Asn)
c.1136A>T
c.378A>T (p.Lys126Asn)
c.759A>T (p.Lys253Asn)
c.501A>T (p.Lys167Asn)
n.397A>T
c.482A>T
n.1032A>T
n.999A>T
19g.11107456_11107457delCA645373255LDLRc.1140_1141del (p.Lys380AsnfsTer6)
c.882_883del (p.Lys294AsnfsTer6)
c.1136_1137del
c.378_379del (p.Lys126AsnfsTer6)
c.759_760del (p.Lys253AsnfsTer6)
c.501_502del (p.Lys167AsnfsTer6)
n.397_398del
c.482_483del
n.1032_1033del
n.999_1000del
 ClinVar dbSNP
19g.11107456_11107457delinsAGCA2322768608LDLRc.1140_1141delinsAG (p.Lys380=)
c.882_883delinsAG (p.Lys294=)
c.1136_1137delinsAG
c.378_379delinsAG (p.Lys126=)
c.759_760delinsAG (p.Lys253=)
c.501_502delinsAG (p.Lys167=)
n.397_398delinsAG
c.482_483delinsAG
n.1032_1033delinsAG
n.999_1000delinsAG
19g.11107457delCA1139666261LDLRc.1141del (p.Val381SerfsTer?)
c.883del (p.Val295SerfsTer?)
c.1137del
c.379del (p.Val127SerfsTer?)
c.760del (p.Val254SerfsTer?)
c.502del (p.Val168SerfsTer?)
n.398del
c.483del
n.1033del
n.1000del
 ClinVar dbSNP
19g.11107457G>ACA404080919LDLRc.1141G>A (p.Val381Ile)
c.883G>A (p.Val295Ile)
c.1137G>A
c.379G>A (p.Val127Ile)
c.760G>A (p.Val254Ile)
c.502G>A (p.Val168Ile)
n.398G>A
c.483G>A
n.1033G>A
n.1000G>A
 gnomAD v4
19g.11107457G>CCA404080921LDLRc.1141G>C (p.Val381Leu)
c.883G>C (p.Val295Leu)
c.1137G>C
c.379G>C (p.Val127Leu)
c.760G>C (p.Val254Leu)
c.502G>C (p.Val168Leu)
n.398G>C
c.483G>C
n.1033G>C
n.1000G>C
19g.11107457G>TCA404080923LDLRc.1141G>T (p.Val381Phe)
c.883G>T (p.Val295Phe)
c.1137G>T
c.379G>T (p.Val127Phe)
c.760G>T (p.Val254Phe)
c.502G>T (p.Val168Phe)
n.398G>T
c.483G>T
n.1033G>T
n.1000G>T
19g.11107457_11107458delinsGTCA2322768609LDLRc.1141_1142delinsGT (p.Val381=)
c.883_884delinsGT (p.Val295=)
c.1137_1138delinsGT
c.379_380delinsGT (p.Val127=)
c.760_761delinsGT (p.Val254=)
c.502_503delinsGT (p.Val168=)
n.398_399delinsGT
c.483_484delinsGT
n.1033_1034delinsGT
n.1000_1001delinsGT
19g.11107458delCA10585173LDLRc.1142del (p.Val381AlafsTer?)
c.884del (p.Val295AlafsTer?)
c.1138del
c.380del (p.Val127AlafsTer?)
c.761del (p.Val254AlafsTer?)
c.503del (p.Val168AlafsTer?)
n.399del
c.484del
n.1034del
n.1001del
 ClinVar dbSNP
19g.11107458T>ACA404080925LDLRc.1142T>A (p.Val381Asp)
c.884T>A (p.Val295Asp)
c.1138T>A
c.380T>A (p.Val127Asp)
c.761T>A (p.Val254Asp)
c.503T>A (p.Val168Asp)
n.399T>A
c.484T>A
n.1034T>A
n.1001T>A
19g.11107458T>CCA404080926LDLRc.1142T>C (p.Val381Ala)
c.884T>C (p.Val295Ala)
c.1138T>C
c.380T>C (p.Val127Ala)
c.761T>C (p.Val254Ala)
c.503T>C (p.Val168Ala)
n.399T>C
c.484T>C
n.1034T>C
n.1001T>C
19g.11107458T>GCA404080927LDLRc.1142T>G (p.Val381Gly)
c.884T>G (p.Val295Gly)
c.1138T>G
c.380T>G (p.Val127Gly)
c.761T>G (p.Val254Gly)
c.503T>G (p.Val168Gly)
n.399T>G
c.484T>G
n.1034T>G
n.1001T>G
 ClinVar
19g.11107459C>ACA505485088LDLRc.1143C>A (p.Val381=)
c.885C>A (p.Val295=)
c.1139C>A
c.381C>A (p.Val127=)
c.762C>A (p.Val254=)
c.504C>A (p.Val168=)
n.400C>A
c.485C>A
n.1035C>A
n.1002C>A
19g.11107459C=CA2322768610LDLRc.1143C= (p.Val381=)
c.885C= (p.Val295=)
c.1139C=
c.381C= (p.Val127=)
c.762C= (p.Val254=)
c.504C= (p.Val168=)
n.400C=
c.485C=
n.1035C=
n.1002C=
19g.11107459C>GCA505485087LDLRc.1143C>G (p.Val381=)
c.885C>G (p.Val295=)
c.1139C>G
c.381C>G (p.Val127=)
c.762C>G (p.Val254=)
c.504C>G (p.Val168=)
n.400C>G
c.485C>G
n.1035C>G
n.1002C>G
19g.11107459C>TCA505485086LDLRc.1143C>T (p.Val381=)
c.885C>T (p.Val295=)
c.1139C>T
c.381C>T (p.Val127=)
c.762C>T (p.Val254=)
c.504C>T (p.Val168=)
n.400C>T
c.485C>T
n.1035C>T
n.1002C>T
 ClinVar dbSNP
19g.11107460T>ACA404080933LDLRc.1144T>A (p.Cys382Ser)
c.886T>A (p.Cys296Ser)
c.1140T>A
c.382T>A (p.Cys128Ser)
c.763T>A (p.Cys255Ser)
c.505T>A (p.Cys169Ser)
n.401T>A
c.486T>A
n.1036T>A
n.1003T>A
19g.11107460T>CCA404080930LDLRc.1144T>C (p.Cys382Arg)
c.886T>C (p.Cys296Arg)
c.1140T>C
c.382T>C (p.Cys128Arg)
c.763T>C (p.Cys255Arg)
c.505T>C (p.Cys169Arg)
n.401T>C
c.486T>C
n.1036T>C
n.1003T>C
 ClinVar dbSNP
19g.11107460T>GCA404080929LDLRc.1144T>G (p.Cys382Gly)
c.886T>G (p.Cys296Gly)
c.1140T>G
c.382T>G (p.Cys128Gly)
c.763T>G (p.Cys255Gly)
c.505T>G (p.Cys169Gly)
n.401T>G
c.486T>G
n.1036T>G
n.1003T>G
 ClinVar
19g.11107460T=CA2322768611LDLRc.1144T= (p.Cys382=)
c.886T= (p.Cys296=)
c.1140T=
c.382T= (p.Cys128=)
c.763T= (p.Cys255=)
c.505T= (p.Cys169=)
n.401T=
c.486T=
n.1036T=
n.1003T=
19g.11107460_11107461insACA030025LDLRc.1144_1145insA (p.Cys382Ter)
c.886_887insA (p.Cys296Ter)
c.1140_1141insA
c.382_383insA (p.Cys128Ter)
c.763_764insA (p.Cys255Ter)
c.505_506insA (p.Cys169Ter)
n.401_402insA
c.486_487insA
n.1036_1037insA
n.1003_1004insA
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107461G>ACA10585174LDLRc.1145G>A (p.Cys382Tyr)
c.887G>A (p.Cys296Tyr)
c.1141G>A
c.383G>A (p.Cys128Tyr)
c.764G>A (p.Cys255Tyr)
c.506G>A (p.Cys169Tyr)
n.402G>A
c.487G>A
n.1037G>A
n.1004G>A
 ClinVar dbSNP gnomAD v4
19g.11107461G>CCA10585175LDLRc.1145G>C (p.Cys382Ser)
c.887G>C (p.Cys296Ser)
c.1141G>C
c.383G>C (p.Cys128Ser)
c.764G>C (p.Cys255Ser)
c.506G>C (p.Cys169Ser)
n.402G>C
c.487G>C
n.1037G>C
n.1004G>C
 ClinVar dbSNP
19g.11107461G=CA2322768612LDLRc.1145G= (p.Cys382=)
c.887G= (p.Cys296=)
c.1141G=
c.383G= (p.Cys128=)
c.764G= (p.Cys255=)
c.506G= (p.Cys169=)
n.402G=
c.487G=
n.1037G=
n.1004G=
19g.11107461G>TCA404080938LDLRc.1145G>T (p.Cys382Phe)
c.887G>T (p.Cys296Phe)
c.1141G>T
c.383G>T (p.Cys128Phe)
c.764G>T (p.Cys255Phe)
c.506G>T (p.Cys169Phe)
n.402G>T
c.487G>T
n.1037G>T
n.1004G>T
 ClinVar dbSNP
19g.11107461_11107462delinsAACA2573320456LDLRc.1145_1146delinsAA (p.Cys382Ter)
c.887_888delinsAA (p.Cys296Ter)
c.1141_1142delinsAA
c.383_384delinsAA (p.Cys128Ter)
c.764_765delinsAA (p.Cys255Ter)
c.506_507delinsAA (p.Cys169Ter)
n.402_403delinsAA
c.487_488delinsAA
n.1037_1038delinsAA
n.1004_1005delinsAA
19g.11107461_11107463delinsAGCCA10585176LDLRc.1145_1147delinsAGC (p.Cys382Ter)
c.887_889delinsAGC (p.Cys296Ter)
c.1141_1143delinsAGC
c.383_385delinsAGC (p.Cys128Ter)
c.764_766delinsAGC (p.Cys255Ter)
c.506_508delinsAGC (p.Cys169Ter)
n.402_404delinsAGC
c.487_489delinsAGC
n.1037_1039delinsAGC
n.1004_1006delinsAGC
 ClinVar dbSNP
19g.11107461_11107463delinsGCACA2322768613LDLRc.1145_1147delinsGCA (p.Cys382=)
c.887_889delinsGCA (p.Cys296=)
c.1141_1143delinsGCA
c.383_385delinsGCA (p.Cys128=)
c.764_766delinsGCA (p.Cys255=)
c.506_508delinsGCA (p.Cys169=)
n.402_404delinsGCA
c.487_489delinsGCA
n.1037_1039delinsGCA
n.1004_1006delinsGCA
19g.11107462C>ACA10585177LDLRc.1146C>A (p.Cys382Ter)
c.888C>A (p.Cys296Ter)
c.1142C>A
c.384C>A (p.Cys128Ter)
c.765C>A (p.Cys255Ter)
c.507C>A (p.Cys169Ter)
n.403C>A
c.488C>A
n.1038C>A
n.1005C>A
 ClinVar dbSNP
19g.11107462C=CA2322768614LDLRc.1146C= (p.Cys382=)
c.888C= (p.Cys296=)
c.1142C=
c.384C= (p.Cys128=)
c.765C= (p.Cys255=)
c.507C= (p.Cys169=)
n.403C=
c.488C=
n.1038C=
n.1005C=
19g.11107462C>GCA404080941LDLRc.1146C>G (p.Cys382Trp)
c.888C>G (p.Cys296Trp)
c.1142C>G
c.384C>G (p.Cys128Trp)
c.765C>G (p.Cys255Trp)
c.507C>G (p.Cys169Trp)
n.403C>G
c.488C>G
n.1038C>G
n.1005C>G
 ClinVar
19g.11107462C>TCA505485089LDLRc.1146C>T (p.Cys382=)
c.888C>T (p.Cys296=)
c.1142C>T
c.384C>T (p.Cys128=)
c.765C>T (p.Cys255=)
c.507C>T (p.Cys169=)
n.403C>T
c.488C>T
n.1038C>T
n.1005C>T
19g.11107462_11107463delinsCACA2322768615LDLRc.1146_1147delinsCA (p.Cys382=)
c.888_889delinsCA (p.Cys296=)
c.1142_1143delinsCA
c.384_385delinsCA (p.Cys128=)
c.765_766delinsCA (p.Cys255=)
c.507_508delinsCA (p.Cys169=)
n.403_404delinsCA
c.488_489delinsCA
n.1038_1039delinsCA
n.1005_1006delinsCA
19g.11107463A=CA2322768616LDLRc.1147A= (p.Asn383=)
c.889A= (p.Asn297=)
c.1143A=
c.385A= (p.Asn129=)
c.766A= (p.Asn256=)
c.508A= (p.Asn170=)
n.404A=
c.489A=
n.1039A=
n.1006A=
19g.11107463A>CCA10585178LDLRc.1147A>C (p.Asn383His)
c.889A>C (p.Asn297His)
c.1143A>C
c.385A>C (p.Asn129His)
c.766A>C (p.Asn256His)
c.508A>C (p.Asn170His)
n.404A>C
c.489A>C
n.1039A>C
n.1006A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11107463A>GCA404080946LDLRc.1147A>G (p.Asn383Asp)
c.889A>G (p.Asn297Asp)
c.1143A>G
c.385A>G (p.Asn129Asp)
c.766A>G (p.Asn256Asp)
c.508A>G (p.Asn170Asp)
n.404A>G
c.489A>G
n.1039A>G
n.1006A>G
 gnomAD v4
19g.11107463A>TCA404080947LDLRc.1147A>T (p.Asn383Tyr)
c.889A>T (p.Asn297Tyr)
c.1143A>T
c.385A>T (p.Asn129Tyr)
c.766A>T (p.Asn256Tyr)
c.508A>T (p.Asn170Tyr)
n.404A>T
c.489A>T
n.1039A>T
n.1006A>T
19g.11107464delCA030039LDLRc.1148del (p.Asn383ThrfsTer?)
c.890del (p.Asn297ThrfsTer?)
c.1144del
c.386del (p.Asn129ThrfsTer?)
c.767del (p.Asn256ThrfsTer?)
c.509del (p.Asn170ThrfsTer?)
n.405del
c.490del
n.1040del
n.1007del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107464A=CA2322768617LDLRc.1148A= (p.Asn383=)
c.890A= (p.Asn297=)
c.1144A=
c.386A= (p.Asn129=)
c.767A= (p.Asn256=)
c.509A= (p.Asn170=)
n.405A=
c.490A=
n.1040A=
n.1007A=
19g.11107464A>CCA404080954LDLRc.1148A>C (p.Asn383Thr)
c.890A>C (p.Asn297Thr)
c.1144A>C
c.386A>C (p.Asn129Thr)
c.767A>C (p.Asn256Thr)
c.509A>C (p.Asn170Thr)
n.405A>C
c.490A>C
n.1040A>C
n.1007A>C
 ClinVar dbSNP
19g.11107464A>GCA404080953LDLRc.1148A>G (p.Asn383Ser)
c.890A>G (p.Asn297Ser)
c.1144A>G
c.386A>G (p.Asn129Ser)
c.767A>G (p.Asn256Ser)
c.509A>G (p.Asn170Ser)
n.405A>G
c.490A>G
n.1040A>G
n.1007A>G
 ClinVar dbSNP COSMIC
19g.11107464A>TCA404080956LDLRc.1148A>T (p.Asn383Ile)
c.890A>T (p.Asn297Ile)
c.1144A>T
c.386A>T (p.Asn129Ile)
c.767A>T (p.Asn256Ile)
c.509A>T (p.Asn170Ile)
n.405A>T
c.490A>T
n.1040A>T
n.1007A>T
19g.11107464_11107466delinsCCCA2573320457LDLRc.1148_1150delinsCC (p.Asn383ThrfsTer?)
c.890_892delinsCC (p.Asn297ThrfsTer?)
c.1144_1146delinsCC
c.386_388delinsCC (p.Asn129ThrfsTer?)
c.767_769delinsCC (p.Asn256ThrfsTer?)
c.509_511delinsCC (p.Asn170ThrfsTer?)
n.405_407delinsCC
c.490_492delinsCC
n.1040_1042delinsCC
n.1007_1009delinsCC
19g.11107465delCA2695228123LDLRc.1149del (p.Asn383LysfsTer?)
c.891del (p.Asn297LysfsTer?)
c.1145del
c.387del (p.Asn129LysfsTer?)
c.768del (p.Asn256LysfsTer?)
c.510del (p.Asn170LysfsTer?)
n.406del
c.491del
n.1041del
n.1008del
19g.11107465C>ACA404080958LDLRc.1149C>A (p.Asn383Lys)
c.891C>A (p.Asn297Lys)
c.1145C>A
c.387C>A (p.Asn129Lys)
c.768C>A (p.Asn256Lys)
c.510C>A (p.Asn170Lys)
n.406C>A
c.491C>A
n.1041C>A
n.1008C>A
19g.11107465C=CA2322768618LDLRc.1149C= (p.Asn383=)
c.891C= (p.Asn297=)
c.1145C=
c.387C= (p.Asn129=)
c.768C= (p.Asn256=)
c.510C= (p.Asn170=)
n.406C=
c.491C=
n.1041C=
n.1008C=
19g.11107465C>GCA404080960LDLRc.1149C>G (p.Asn383Lys)
c.891C>G (p.Asn297Lys)
c.1145C>G
c.387C>G (p.Asn129Lys)
c.768C>G (p.Asn256Lys)
c.510C>G (p.Asn170Lys)
n.406C>G
c.491C>G
n.1041C>G
n.1008C>G
19g.11107465C>TCA505485090LDLRc.1149C>T (p.Asn383=)
c.891C>T (p.Asn297=)
c.1145C>T
c.387C>T (p.Asn129=)
c.768C>T (p.Asn256=)
c.510C>T (p.Asn170=)
n.406C>T
c.491C>T
n.1041C>T
n.1008C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11107466delCA2017997786LDLRc.1150del (p.Met384TrpfsTer?)
c.892del (p.Met298TrpfsTer?)
c.1146del
c.388del (p.Met130TrpfsTer?)
c.769del (p.Met257TrpfsTer?)
c.511del (p.Met171TrpfsTer?)
n.407del
c.492del
n.1042del
n.1009del
19g.11107466A=CA2322768619LDLRc.1150A= (p.Met384=)
c.892A= (p.Met298=)
c.1146A=
c.388A= (p.Met130=)
c.769A= (p.Met257=)
c.511A= (p.Met171=)
n.407A=
c.492A=
n.1042A=
n.1009A=
19g.11107466A>CCA404080963LDLRc.1150A>C (p.Met384Leu)
c.892A>C (p.Met298Leu)
c.1146A>C
c.388A>C (p.Met130Leu)
c.769A>C (p.Met257Leu)
c.511A>C (p.Met171Leu)
n.407A>C
c.492A>C
n.1042A>C
n.1009A>C
19g.11107466A>GCA023786LDLRc.1150A>G (p.Met384Val)
c.892A>G (p.Met298Val)
c.1146A>G
c.388A>G (p.Met130Val)
c.769A>G (p.Met257Val)
c.511A>G (p.Met171Val)
n.407A>G
c.492A>G
n.1042A>G
n.1009A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107466A>TCA404080965LDLRc.1150A>T (p.Met384Leu)
c.892A>T (p.Met298Leu)
c.1146A>T
c.388A>T (p.Met130Leu)
c.769A>T (p.Met257Leu)
c.511A>T (p.Met171Leu)
n.407A>T
c.492A>T
n.1042A>T
n.1009A>T
19g.11107467T>ACA404080968LDLRc.1151T>A (p.Met384Lys)
c.893T>A (p.Met298Lys)
c.1147T>A
c.389T>A (p.Met130Lys)
c.770T>A (p.Met257Lys)
c.512T>A (p.Met171Lys)
n.408T>A
c.493T>A
n.1043T>A
n.1010T>A
19g.11107467T>CCA404080969LDLRc.1151T>C (p.Met384Thr)
c.893T>C (p.Met298Thr)
c.1147T>C
c.389T>C (p.Met130Thr)
c.770T>C (p.Met257Thr)
c.512T>C (p.Met171Thr)
n.408T>C
c.493T>C
n.1043T>C
n.1010T>C
 ClinVar gnomAD v4
19g.11107467T>GCA404080971LDLRc.1151T>G (p.Met384Arg)
c.893T>G (p.Met298Arg)
c.1147T>G
c.389T>G (p.Met130Arg)
c.770T>G (p.Met257Arg)
c.512T>G (p.Met171Arg)
n.408T>G
c.493T>G
n.1043T>G
n.1010T>G
19g.11107467dupCA2580096310LDLRc.1151dup (p.Met384IlefsTer3)
c.893dup (p.Met298IlefsTer3)
c.1147dup
c.389dup (p.Met130IlefsTer3)
c.770dup (p.Met257IlefsTer3)
c.512dup (p.Met171IlefsTer3)
n.408dup
c.493dup
n.1043dup
n.1010dup
 ClinVar
19g.11107468G>ACA404080974LDLRc.1152G>A (p.Met384Ile)
c.894G>A (p.Met298Ile)
c.1148G>A
c.390G>A (p.Met130Ile)
c.771G>A (p.Met257Ile)
c.513G>A (p.Met171Ile)
n.409G>A
c.494G>A
n.1044G>A
n.1011G>A
 gnomAD v4
19g.11107468G>CCA404080976LDLRc.1152G>C (p.Met384Ile)
c.894G>C (p.Met298Ile)
c.1148G>C
c.390G>C (p.Met130Ile)
c.771G>C (p.Met257Ile)
c.513G>C (p.Met171Ile)
n.409G>C
c.494G>C
n.1044G>C
n.1011G>C
19g.11107468G>TCA404080978LDLRc.1152G>T (p.Met384Ile)
c.894G>T (p.Met298Ile)
c.1148G>T
c.390G>T (p.Met130Ile)
c.771G>T (p.Met257Ile)
c.513G>T (p.Met171Ile)
n.409G>T
c.494G>T
n.1044G>T
n.1011G>T
 gnomAD v4
19g.11107468_11107469delCA2497030139LDLRc.1152_1153del (p.Met384IlefsTer2)
c.894_895del (p.Met298IlefsTer2)
c.1148_1149del
c.390_391del (p.Met130IlefsTer2)
c.771_772del (p.Met257IlefsTer2)
c.513_514del (p.Met171IlefsTer2)
n.409_410del
c.494_495del
n.1044_1045del
n.1011_1012del
19g.11107469G>ACA10585179LDLRc.1153G>A (p.Ala385Thr)
c.895G>A (p.Ala299Thr)
c.1149G>A
c.391G>A (p.Ala131Thr)
c.772G>A (p.Ala258Thr)
c.514G>A (p.Ala172Thr)
n.410G>A
c.495G>A
n.1045G>A
n.1012G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11107469G>CCA404080981LDLRc.1153G>C (p.Ala385Pro)
c.895G>C (p.Ala299Pro)
c.1149G>C
c.391G>C (p.Ala131Pro)
c.772G>C (p.Ala258Pro)
c.514G>C (p.Ala172Pro)
n.410G>C
c.495G>C
n.1045G>C
n.1012G>C
19g.11107469G=CA2322768620LDLRc.1153G= (p.Ala385=)
c.895G= (p.Ala299=)
c.1149G=
c.391G= (p.Ala131=)
c.772G= (p.Ala258=)
c.514G= (p.Ala172=)
n.410G=
c.495G=
n.1045G=
n.1012G=
19g.11107469G>TCA10585180LDLRc.1153G>T (p.Ala385Ser)
c.895G>T (p.Ala299Ser)
c.1149G>T
c.391G>T (p.Ala131Ser)
c.772G>T (p.Ala258Ser)
c.514G>T (p.Ala172Ser)
n.410G>T
c.495G>T
n.1045G>T
n.1012G>T
 ClinVar dbSNP
19g.11107469_11107470delinsGCCA2322768621LDLRc.1153_1154delinsGC (p.Ala385=)
c.895_896delinsGC (p.Ala299=)
c.1149_1150delinsGC
c.391_392delinsGC (p.Ala131=)
c.772_773delinsGC (p.Ala258=)
c.514_515delinsGC (p.Ala172=)
n.410_411delinsGC
c.495_496delinsGC
n.1045_1046delinsGC
n.1012_1013delinsGC
19g.11107470delCA10585181LDLRc.1154del (p.Ala385ValfsTer?)
c.896del (p.Ala299ValfsTer?)
c.1150del
c.392del (p.Ala131ValfsTer?)
c.773del (p.Ala258ValfsTer?)
c.515del (p.Ala172ValfsTer?)
n.411del
c.496del
n.1046del
n.1013del
 ClinVar dbSNP
19g.11107470C>ACA404080986LDLRc.1154C>A (p.Ala385Asp)
c.896C>A (p.Ala299Asp)
c.1150C>A
c.392C>A (p.Ala131Asp)
c.773C>A (p.Ala258Asp)
c.515C>A (p.Ala172Asp)
n.411C>A
c.496C>A
n.1046C>A
n.1013C>A
19g.11107470C>GCA404080987LDLRc.1154C>G (p.Ala385Gly)
c.896C>G (p.Ala299Gly)
c.1150C>G
c.392C>G (p.Ala131Gly)
c.773C>G (p.Ala258Gly)
c.515C>G (p.Ala172Gly)
n.411C>G
c.496C>G
n.1046C>G
n.1013C>G
19g.11107470C>TCA404080990LDLRc.1154C>T (p.Ala385Val)
c.896C>T (p.Ala299Val)
c.1150C>T
c.392C>T (p.Ala131Val)
c.773C>T (p.Ala258Val)
c.515C>T (p.Ala172Val)
n.411C>T
c.496C>T
n.1046C>T
n.1013C>T
19g.11107471T>ACA505485091LDLRc.1155T>A (p.Ala385=)
c.897T>A (p.Ala299=)
c.1151T>A
c.393T>A (p.Ala131=)
c.774T>A (p.Ala258=)
c.516T>A (p.Ala172=)
n.412T>A
c.497T>A
n.1047T>A
n.1014T>A
19g.11107471T>CCA505485092LDLRc.1155T>C (p.Ala385=)
c.897T>C (p.Ala299=)
c.1151T>C
c.393T>C (p.Ala131=)
c.774T>C (p.Ala258=)
c.516T>C (p.Ala172=)
n.412T>C
c.497T>C
n.1047T>C
n.1014T>C
19g.11107471T>GCA505485093LDLRc.1155T>G (p.Ala385=)
c.897T>G (p.Ala299=)
c.1151T>G
c.393T>G (p.Ala131=)
c.774T>G (p.Ala258=)
c.516T>G (p.Ala172=)
n.412T>G
c.497T>G
n.1047T>G
n.1014T>G
 ClinVar dbSNP
19g.11107472A=CA2322768622LDLRc.1156A= (p.Arg386=)
c.898A= (p.Arg300=)
c.1152A=
c.394A= (p.Arg132=)
c.775A= (p.Arg259=)
c.517A= (p.Arg173=)
n.413A=
c.498A=
n.1048A=
n.1015A=
19g.11107472A>CCA505485094LDLRc.1156A>C (p.Arg386=)
c.898A>C (p.Arg300=)
c.1152A>C
c.394A>C (p.Arg132=)
c.775A>C (p.Arg259=)
c.517A>C (p.Arg173=)
n.413A>C
c.498A>C
n.1048A>C
n.1015A>C
19g.11107472A>GCA030068LDLRc.1156A>G (p.Arg386Gly)
c.898A>G (p.Arg300Gly)
c.1152A>G
c.394A>G (p.Arg132Gly)
c.775A>G (p.Arg259Gly)
c.517A>G (p.Arg173Gly)
n.413A>G
c.498A>G
n.1048A>G
n.1015A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107472A>TCA10585182LDLRc.1156A>T (p.Arg386Ter)
c.898A>T (p.Arg300Ter)
c.1152A>T
c.394A>T (p.Arg132Ter)
c.775A>T (p.Arg259Ter)
c.517A>T (p.Arg173Ter)
n.413A>T
c.498A>T
n.1048A>T
n.1015A>T
 ClinVar dbSNP
19g.11107472_11107483delinsAGAGACTGCCGGCA2322768623LDLRc.1156_1167delinsAGAGACTGCCGG (p.Arg386=)
c.898_909delinsAGAGACTGCCGG (p.Arg300=)
c.1152_1163delinsAGAGACTGCCGG
c.394_405delinsAGAGACTGCCGG (p.Arg132=)
c.775_786delinsAGAGACTGCCGG (p.Arg259=)
c.517_528delinsAGAGACTGCCGG (p.Arg173=)
n.413_424delinsAGAGACTGCCGG
c.498_509delinsAGAGACTGCCGG
n.1048_1059delinsAGAGACTGCCGG
n.1015_1026delinsAGAGACTGCCGG
19g.11107473G>ACA404080996LDLRc.1157G>A (p.Arg386Lys)
c.899G>A (p.Arg300Lys)
c.1153G>A
c.395G>A (p.Arg132Lys)
c.776G>A (p.Arg259Lys)
c.518G>A (p.Arg173Lys)
n.414G>A
c.499G>A
n.1049G>A
n.1016G>A
 ClinVar dbSNP
19g.11107473G>CCA404080998LDLRc.1157G>C (p.Arg386Thr)
c.899G>C (p.Arg300Thr)
c.1153G>C
c.395G>C (p.Arg132Thr)
c.776G>C (p.Arg259Thr)
c.518G>C (p.Arg173Thr)
n.414G>C
c.499G>C
n.1049G>C
n.1016G>C
 ClinVar gnomAD v4 COSMIC
19g.11107473G=CA2322768624LDLRc.1157G= (p.Arg386=)
c.899G= (p.Arg300=)
c.1153G=
c.395G= (p.Arg132=)
c.776G= (p.Arg259=)
c.518G= (p.Arg173=)
n.414G=
c.499G=
n.1049G=
n.1016G=
19g.11107473G>TCA404080999LDLRc.1157G>T (p.Arg386Ile)
c.899G>T (p.Arg300Ile)
c.1153G>T
c.395G>T (p.Arg132Ile)
c.776G>T (p.Arg259Ile)
c.518G>T (p.Arg173Ile)
n.414G>T
c.499G>T
n.1049G>T
n.1016G>T
19g.11107475_11107485delCA1139666262LDLRc.1159_1169del (p.Asp387LeufsTer4)
c.901_911del (p.Asp301LeufsTer4)
c.1155_1165del
c.397_407del (p.Asp133LeufsTer4)
c.778_788del (p.Asp260LeufsTer4)
c.520_530del (p.Asp174LeufsTer4)
n.416_426del
c.501_511del
n.1051_1061del
n.1018_1028del
 ClinVar dbSNP
19g.11107474A>CCA404081001LDLRc.1158A>C (p.Arg386Ser)
c.900A>C (p.Arg300Ser)
c.1154A>C
c.396A>C (p.Arg132Ser)
c.777A>C (p.Arg259Ser)
c.519A>C (p.Arg173Ser)
n.415A>C
c.500A>C
n.1050A>C
n.1017A>C
19g.11107474A>GCA505485095LDLRc.1158A>G (p.Arg386=)
c.900A>G (p.Arg300=)
c.1154A>G
c.396A>G (p.Arg132=)
c.777A>G (p.Arg259=)
c.519A>G (p.Arg173=)
n.415A>G
c.500A>G
n.1050A>G
n.1017A>G
 ClinVar gnomAD v4
19g.11107474A>TCA404081002LDLRc.1158A>T (p.Arg386Ser)
c.900A>T (p.Arg300Ser)
c.1154A>T
c.396A>T (p.Arg132Ser)
c.777A>T (p.Arg259Ser)
c.519A>T (p.Arg173Ser)
n.415A>T
c.500A>T
n.1050A>T
n.1017A>T
19g.11107475G>ACA404081006LDLRc.1159G>A (p.Asp387Asn)
c.901G>A (p.Asp301Asn)
c.1155G>A
c.397G>A (p.Asp133Asn)
c.778G>A (p.Asp260Asn)
c.520G>A (p.Asp174Asn)
n.416G>A
c.501G>A
n.1051G>A
n.1018G>A
19g.11107475G>CCA404081007LDLRc.1159G>C (p.Asp387His)
c.901G>C (p.Asp301His)
c.1155G>C
c.397G>C (p.Asp133His)
c.778G>C (p.Asp260His)
c.520G>C (p.Asp174His)
n.416G>C
c.501G>C
n.1051G>C
n.1018G>C
19g.11107475G=CA2322768625LDLRc.1159G= (p.Asp387=)
c.901G= (p.Asp301=)
c.1155G=
c.397G= (p.Asp133=)
c.778G= (p.Asp260=)
c.520G= (p.Asp174=)
n.416G=
c.501G=
n.1051G=
n.1018G=
19g.11107475G>TCA10585183LDLRc.1159G>T (p.Asp387Tyr)
c.901G>T (p.Asp301Tyr)
c.1155G>T
c.397G>T (p.Asp133Tyr)
c.778G>T (p.Asp260Tyr)
c.520G>T (p.Asp174Tyr)
n.416G>T
c.501G>T
n.1051G>T
n.1018G>T
 ClinVar dbSNP
19g.11107476A=CA2322768626LDLRc.1160A= (p.Asp387=)
c.902A= (p.Asp301=)
c.1156A=
c.398A= (p.Asp133=)
c.779A= (p.Asp260=)
c.521A= (p.Asp174=)
n.417A=
c.502A=
n.1052A=
n.1019A=
19g.11107476A>CCA10585184LDLRc.1160A>C (p.Asp387Ala)
c.902A>C (p.Asp301Ala)
c.1156A>C
c.398A>C (p.Asp133Ala)
c.779A>C (p.Asp260Ala)
c.521A>C (p.Asp174Ala)
n.417A>C
c.502A>C
n.1052A>C
n.1019A>C
 ClinVar dbSNP
19g.11107476A>GCA10585185LDLRc.1160A>G (p.Asp387Gly)
c.902A>G (p.Asp301Gly)
c.1156A>G
c.398A>G (p.Asp133Gly)
c.779A>G (p.Asp260Gly)
c.521A>G (p.Asp174Gly)
n.417A>G
c.502A>G
n.1052A>G
n.1019A>G
 ClinVar dbSNP
19g.11107476A>TCA404081010LDLRc.1160A>T (p.Asp387Val)
c.902A>T (p.Asp301Val)
c.1156A>T
c.398A>T (p.Asp133Val)
c.779A>T (p.Asp260Val)
c.521A>T (p.Asp174Val)
n.417A>T
c.502A>T
n.1052A>T
n.1019A>T
 ClinVar
19g.11107477C>ACA404081013LDLRc.1161C>A (p.Asp387Glu)
c.903C>A (p.Asp301Glu)
c.1157C>A
c.399C>A (p.Asp133Glu)
c.780C>A (p.Asp260Glu)
c.522C>A (p.Asp174Glu)
n.418C>A
c.503C>A
n.1053C>A
n.1020C>A
 gnomAD v4
19g.11107477C=CA2322768627LDLRc.1161C= (p.Asp387=)
c.903C= (p.Asp301=)
c.1157C=
c.399C= (p.Asp133=)
c.780C= (p.Asp260=)
c.522C= (p.Asp174=)
n.418C=
c.503C=
n.1053C=
n.1020C=
19g.11107477C>GCA404081014LDLRc.1161C>G (p.Asp387Glu)
c.903C>G (p.Asp301Glu)
c.1157C>G
c.399C>G (p.Asp133Glu)
c.780C>G (p.Asp260Glu)
c.522C>G (p.Asp174Glu)
n.418C>G
c.503C>G
n.1053C>G
n.1020C>G
19g.11107477C>TCA505485096LDLRc.1161C>T (p.Asp387=)
c.903C>T (p.Asp301=)
c.1157C>T
c.399C>T (p.Asp133=)
c.780C>T (p.Asp260=)
c.522C>T (p.Asp174=)
n.418C>T
c.503C>T
n.1053C>T
n.1020C>T
 ClinVar dbSNP
19g.11107478T>ACA404081017LDLRc.1162T>A (p.Cys388Ser)
c.904T>A (p.Cys302Ser)
c.1158T>A
c.400T>A (p.Cys134Ser)
c.781T>A (p.Cys261Ser)
c.523T>A (p.Cys175Ser)
n.419T>A
c.504T>A
n.1054T>A
n.1021T>A
19g.11107478T>CCA404081019LDLRc.1162T>C (p.Cys388Arg)
c.904T>C (p.Cys302Arg)
c.1158T>C
c.400T>C (p.Cys134Arg)
c.781T>C (p.Cys261Arg)
c.523T>C (p.Cys175Arg)
n.419T>C
c.504T>C
n.1054T>C
n.1021T>C
 ClinVar dbSNP
19g.11107478T>GCA404081021LDLRc.1162T>G (p.Cys388Gly)
c.904T>G (p.Cys302Gly)
c.1158T>G
c.400T>G (p.Cys134Gly)
c.781T>G (p.Cys261Gly)
c.523T>G (p.Cys175Gly)
n.419T>G
c.504T>G
n.1054T>G
n.1021T>G
 ClinVar dbSNP
19g.11107478T=CA2322768628LDLRc.1162T= (p.Cys388=)
c.904T= (p.Cys302=)
c.1158T=
c.400T= (p.Cys134=)
c.781T= (p.Cys261=)
c.523T= (p.Cys175=)
n.419T=
c.504T=
n.1054T=
n.1021T=
19g.11107478_11107479delinsTGCA2322768629LDLRc.1162_1163delinsTG (p.Cys388=)
c.904_905delinsTG (p.Cys302=)
c.1158_1159delinsTG
c.400_401delinsTG (p.Cys134=)
c.781_782delinsTG (p.Cys261=)
c.523_524delinsTG (p.Cys175=)
n.419_420delinsTG
c.504_505delinsTG
n.1054_1055delinsTG
n.1021_1022delinsTG
19g.11107479delCA10654847LDLRc.1163del (p.Cys388SerfsTer?)
c.905del (p.Cys302SerfsTer?)
c.905del (p.Cys302SerfsTer28)
c.1159del
c.401del (p.Cys134SerfsTer?)
c.782del (p.Cys261SerfsTer?)
c.524del (p.Cys175SerfsTer?)
n.420del
c.505del
n.1055del
n.1022del
 ClinVar dbSNP
19g.11107479G>ACA10585186LDLRc.1163G>A (p.Cys388Tyr)
c.905G>A (p.Cys302Tyr)
c.1159G>A
c.401G>A (p.Cys134Tyr)
c.782G>A (p.Cys261Tyr)
c.524G>A (p.Cys175Tyr)
n.420G>A
c.505G>A
n.1055G>A
n.1022G>A
 ClinVar dbSNP gnomAD v4
19g.11107479G>CCA404081026LDLRc.1163G>C (p.Cys388Ser)
c.905G>C (p.Cys302Ser)
c.1159G>C
c.401G>C (p.Cys134Ser)
c.782G>C (p.Cys261Ser)
c.524G>C (p.Cys175Ser)
n.420G>C
c.505G>C
n.1055G>C
n.1022G>C
19g.11107479G=CA2322768630LDLRc.1163G= (p.Cys388=)
c.905G= (p.Cys302=)
c.1159G=
c.401G= (p.Cys134=)
c.782G= (p.Cys261=)
c.524G= (p.Cys175=)
n.420G=
c.505G=
n.1055G=
n.1022G=
19g.11107479G>TCA404081028LDLRc.1163G>T (p.Cys388Phe)
c.905G>T (p.Cys302Phe)
c.1159G>T
c.401G>T (p.Cys134Phe)
c.782G>T (p.Cys261Phe)
c.524G>T (p.Cys175Phe)
n.420G>T
c.505G>T
n.1055G>T
n.1022G>T
 ClinVar dbSNP
19g.11107480C>ACA404081032LDLRc.1164C>A (p.Cys388Ter)
c.906C>A (p.Cys302Ter)
c.1160C>A
c.402C>A (p.Cys134Ter)
c.783C>A (p.Cys261Ter)
c.525C>A (p.Cys175Ter)
n.421C>A
c.506C>A
n.1056C>A
n.1023C>A
 ClinVar
19g.11107480C=CA2322768631LDLRc.1164C= (p.Cys388=)
c.906C= (p.Cys302=)
c.1160C=
c.402C= (p.Cys134=)
c.783C= (p.Cys261=)
c.525C= (p.Cys175=)
n.421C=
c.506C=
n.1056C=
n.1023C=
19g.11107480C>GCA10585187LDLRc.1164C>G (p.Cys388Trp)
c.906C>G (p.Cys302Trp)
c.1160C>G
c.402C>G (p.Cys134Trp)
c.783C>G (p.Cys261Trp)
c.525C>G (p.Cys175Trp)
n.421C>G
c.506C>G
n.1056C>G
n.1023C>G
 ClinVar dbSNP
19g.11107480C>TCA505485097LDLRc.1164C>T (p.Cys388=)
c.906C>T (p.Cys302=)
c.1160C>T
c.402C>T (p.Cys134=)
c.783C>T (p.Cys261=)
c.525C>T (p.Cys175=)
n.421C>T
c.506C>T
n.1056C>T
n.1023C>T
19g.11107481delCA2560332380LDLRc.1165del (p.Arg389GlyfsTer?)
c.907del (p.Arg303GlyfsTer?)
c.907del (p.Arg303GlyfsTer27)
c.1161del
c.403del (p.Arg135GlyfsTer?)
c.784del (p.Arg262GlyfsTer?)
c.526del (p.Arg176GlyfsTer?)
n.422del
c.507del
n.1057del
n.1024del
19g.11107482_11107500dupCA10576289LDLRc.1166_1184dup (p.Ile396GlyfsTer5)
c.908_926dup (p.Ile310GlyfsTer5)
c.1162_1180dup
c.404_422dup (p.Ile142GlyfsTer5)
c.785_803dup (p.Ile269GlyfsTer5)
c.527_545dup (p.Ile183GlyfsTer5)
n.423_441dup
c.508_526dup
n.1058_1076dup
n.1025_1043dup
 ClinVar dbSNP gnomAD v4
19g.11107481C>ACA505485098LDLRc.1165C>A (p.Arg389=)
c.907C>A (p.Arg303=)
c.1161C>A
c.403C>A (p.Arg135=)
c.784C>A (p.Arg262=)
c.526C>A (p.Arg176=)
n.422C>A
c.507C>A
n.1057C>A
n.1024C>A
 COSMIC
19g.11107481C=CA2322768632LDLRc.1165C= (p.Arg389=)
c.907C= (p.Arg303=)
c.1161C=
c.403C= (p.Arg135=)
c.784C= (p.Arg262=)
c.526C= (p.Arg176=)
n.422C=
c.507C=
n.1057C=
n.1024C=
19g.11107481C>GCA404081035LDLRc.1165C>G (p.Arg389Gly)
c.907C>G (p.Arg303Gly)
c.1161C>G
c.403C>G (p.Arg135Gly)
c.784C>G (p.Arg262Gly)
c.526C>G (p.Arg176Gly)
n.422C>G
c.507C>G
n.1057C>G
n.1024C>G
 dbSNP gnomAD v4
19g.11107481C>TCA023787LDLRc.1165C>T (p.Arg389Trp)
c.907C>T (p.Arg303Trp)
c.1161C>T
c.403C>T (p.Arg135Trp)
c.784C>T (p.Arg262Trp)
c.526C>T (p.Arg176Trp)
n.422C>T
c.507C>T
n.1057C>T
n.1024C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107481_11107482delinsCGCA2322768633LDLRc.1165_1166delinsCG (p.Arg389=)
c.907_908delinsCG (p.Arg303=)
c.1161_1162delinsCG
c.403_404delinsCG (p.Arg135=)
c.784_785delinsCG (p.Arg262=)
c.526_527delinsCG (p.Arg176=)
n.422_423delinsCG
c.507_508delinsCG
n.1057_1058delinsCG
n.1024_1025delinsCG
19g.11107482G>ACA023789LDLRc.1166G>A (p.Arg389Gln)
c.908G>A (p.Arg303Gln)
c.1162G>A
c.404G>A (p.Arg135Gln)
c.785G>A (p.Arg262Gln)
c.527G>A (p.Arg176Gln)
n.423G>A
c.508G>A
n.1058G>A
n.1025G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11107482G>CCA404081036LDLRc.1166G>C (p.Arg389Pro)
c.908G>C (p.Arg303Pro)
c.1162G>C
c.404G>C (p.Arg135Pro)
c.785G>C (p.Arg262Pro)
c.527G>C (p.Arg176Pro)
n.423G>C
c.508G>C
n.1058G>C
n.1025G>C
19g.11107482G=CA2322768634LDLRc.1166G= (p.Arg389=)
c.908G= (p.Arg303=)
c.1162G=
c.404G= (p.Arg135=)
c.785G= (p.Arg262=)
c.527G= (p.Arg176=)
n.423G=
c.508G=
n.1058G=
n.1025G=
19g.11107482G>TCA404081037LDLRc.1166G>T (p.Arg389Leu)
c.908G>T (p.Arg303Leu)
c.1162G>T
c.404G>T (p.Arg135Leu)
c.785G>T (p.Arg262Leu)
c.527G>T (p.Arg176Leu)
n.423G>T
c.508G>T
n.1058G>T
n.1025G>T
19g.11107484dupCA2695228125LDLRc.1168dup (p.Asp390GlyfsTer5)
c.910dup (p.Asp304GlyfsTer5)
c.1164dup
c.406dup (p.Asp136GlyfsTer5)
c.787dup (p.Asp263GlyfsTer5)
c.529dup (p.Asp177GlyfsTer5)
n.425dup
c.510dup
n.1060dup
n.1027dup
19g.11107484delCA1139666263LDLRc.1168del (p.Asp390ThrfsTer?)
c.910del (p.Asp304ThrfsTer?)
c.910del (p.Asp304ThrfsTer26)
c.1164del
c.406del (p.Asp136ThrfsTer?)
c.787del (p.Asp263ThrfsTer?)
c.529del (p.Asp177ThrfsTer?)
n.425del
c.510del
n.1060del
n.1027del
 ClinVar dbSNP
19g.11107483G>ACA505485100LDLRc.1167G>A (p.Arg389=)
c.909G>A (p.Arg303=)
c.1163G>A
c.405G>A (p.Arg135=)
c.786G>A (p.Arg262=)
c.528G>A (p.Arg176=)
n.424G>A
c.509G>A
n.1059G>A
n.1026G>A
19g.11107483G>CCA505485101LDLRc.1167G>C (p.Arg389=)
c.909G>C (p.Arg303=)
c.1163G>C
c.405G>C (p.Arg135=)
c.786G>C (p.Arg262=)
c.528G>C (p.Arg176=)
n.424G>C
c.509G>C
n.1059G>C
n.1026G>C
 gnomAD v4
19g.11107483G>TCA505485099LDLRc.1167G>T (p.Arg389=)
c.909G>T (p.Arg303=)
c.1163G>T
c.405G>T (p.Arg135=)
c.786G>T (p.Arg262=)
c.528G>T (p.Arg176=)
n.424G>T
c.509G>T
n.1059G>T
n.1026G>T
19g.11107484G>ACA023792LDLRc.1168G>A (p.Asp390Asn)
c.910G>A (p.Asp304Asn)
c.1164G>A
c.406G>A (p.Asp136Asn)
c.787G>A (p.Asp263Asn)
c.529G>A (p.Asp177Asn)
n.425G>A
c.510G>A
n.1060G>A
n.1027G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107484G>CCA404081038LDLRc.1168G>C (p.Asp390His)
c.910G>C (p.Asp304His)
c.1164G>C
c.406G>C (p.Asp136His)
c.787G>C (p.Asp263His)
c.529G>C (p.Asp177His)
n.425G>C
c.510G>C
n.1060G>C
n.1027G>C
 ClinVar dbSNP gnomAD v4
19g.11107484G=CA2322768635LDLRc.1168G= (p.Asp390=)
c.910G= (p.Asp304=)
c.1164G=
c.406G= (p.Asp136=)
c.787G= (p.Asp263=)
c.529G= (p.Asp177=)
n.425G=
c.510G=
n.1060G=
n.1027G=
19g.11107484G>TCA10585188LDLRc.1168G>T (p.Asp390Tyr)
c.910G>T (p.Asp304Tyr)
c.1164G>T
c.406G>T (p.Asp136Tyr)
c.787G>T (p.Asp263Tyr)
c.529G>T (p.Asp177Tyr)
n.425G>T
c.510G>T
n.1060G>T
n.1027G>T
 ClinVar dbSNP gnomAD v4
19g.11107485A=CA2322768636LDLRc.1169A= (p.Asp390=)
c.911A= (p.Asp304=)
c.1165A=
c.407A= (p.Asp136=)
c.788A= (p.Asp263=)
c.530A= (p.Asp177=)
n.426A=
c.511A=
n.1061A=
n.1028A=
19g.11107485A>CCA404081039LDLRc.1169A>C (p.Asp390Ala)
c.911A>C (p.Asp304Ala)
c.1165A>C
c.407A>C (p.Asp136Ala)
c.788A>C (p.Asp263Ala)
c.530A>C (p.Asp177Ala)
n.426A>C
c.511A>C
n.1061A>C
n.1028A>C
19g.11107485A>GCA404081040LDLRc.1169A>G (p.Asp390Gly)
c.911A>G (p.Asp304Gly)
c.1165A>G
c.407A>G (p.Asp136Gly)
c.788A>G (p.Asp263Gly)
c.530A>G (p.Asp177Gly)
n.426A>G
c.511A>G
n.1061A>G
n.1028A>G
19g.11107485A>TCA404081041LDLRc.1169A>T (p.Asp390Val)
c.911A>T (p.Asp304Val)
c.1165A>T
c.407A>T (p.Asp136Val)
c.788A>T (p.Asp263Val)
c.530A>T (p.Asp177Val)
n.426A>T
c.511A>T
n.1061A>T
n.1028A>T
 ClinVar dbSNP
19g.11107486delCA2695228127LDLRc.1170del (p.Trp391GlyfsTer?)
c.912del (p.Trp305GlyfsTer?)
c.912del (p.Trp305GlyfsTer25)
c.1166del
c.408del (p.Trp137GlyfsTer?)
c.789del (p.Trp264GlyfsTer?)
c.531del (p.Trp178GlyfsTer?)
n.427del
c.512del
n.1062del
n.1029del
19g.11107486C>ACA404081042LDLRc.1170C>A (p.Asp390Glu)
c.912C>A (p.Asp304Glu)
c.1166C>A
c.408C>A (p.Asp136Glu)
c.789C>A (p.Asp263Glu)
c.531C>A (p.Asp177Glu)
n.427C>A
c.512C>A
n.1062C>A
n.1029C>A
19g.11107486C=CA2322768637LDLRc.1170C= (p.Asp390=)
c.912C= (p.Asp304=)
c.1166C=
c.408C= (p.Asp136=)
c.789C= (p.Asp263=)
c.531C= (p.Asp177=)
n.427C=
c.512C=
n.1062C=
n.1029C=
19g.11107486C>GCA10576290LDLRc.1170C>G (p.Asp390Glu)
c.912C>G (p.Asp304Glu)
c.1166C>G
c.408C>G (p.Asp136Glu)
c.789C>G (p.Asp263Glu)
c.531C>G (p.Asp177Glu)
n.427C>G
c.512C>G
n.1062C>G
n.1029C>G
 ClinVar dbSNP gnomAD v4
19g.11107486C>TCA505485102LDLRc.1170C>T (p.Asp390=)
c.912C>T (p.Asp304=)
c.1166C>T
c.408C>T (p.Asp136=)
c.789C>T (p.Asp263=)
c.531C>T (p.Asp177=)
n.427C>T
c.512C>T
n.1062C>T
n.1029C>T
19g.11107487T>ACA404081043LDLRc.1171T>A (p.Trp391Arg)
c.913T>A (p.Trp305Arg)
c.1167T>A
c.409T>A (p.Trp137Arg)
c.790T>A (p.Trp264Arg)
c.532T>A (p.Trp178Arg)
n.428T>A
c.513T>A
n.1063T>A
n.1030T>A
19g.11107487T>CCA404081044LDLRc.1171T>C (p.Trp391Arg)
c.913T>C (p.Trp305Arg)
c.1167T>C
c.409T>C (p.Trp137Arg)
c.790T>C (p.Trp264Arg)
c.532T>C (p.Trp178Arg)
n.428T>C
c.513T>C
n.1063T>C
n.1030T>C
19g.11107487T>GCA030157LDLRc.1171T>G (p.Trp391Gly)
c.913T>G (p.Trp305Gly)
c.1167T>G
c.409T>G (p.Trp137Gly)
c.790T>G (p.Trp264Gly)
c.532T>G (p.Trp178Gly)
n.428T>G
c.513T>G
n.1063T>G
n.1030T>G
 dbSNP ExAC gnomAD v2
19g.11107487T=CA2322768638LDLRc.1171T= (p.Trp391=)
c.913T= (p.Trp305=)
c.1167T=
c.409T= (p.Trp137=)
c.790T= (p.Trp264=)
c.532T= (p.Trp178=)
n.428T=
c.513T=
n.1063T=
n.1030T=
19g.11107488G>ACA10585189LDLRc.1172G>A (p.Trp391Ter)
c.914G>A (p.Trp305Ter)
c.1168G>A
c.410G>A (p.Trp137Ter)
c.791G>A (p.Trp264Ter)
c.533G>A (p.Trp178Ter)
n.429G>A
c.514G>A
n.1064G>A
n.1031G>A
 ClinVar dbSNP
19g.11107488G>CCA10585190LDLRc.1172G>C (p.Trp391Ser)
c.914G>C (p.Trp305Ser)
c.1168G>C
c.410G>C (p.Trp137Ser)
c.791G>C (p.Trp264Ser)
c.533G>C (p.Trp178Ser)
n.429G>C
c.514G>C
n.1064G>C
n.1031G>C
 ClinVar dbSNP
19g.11107488G=CA2322768639LDLRc.1172G= (p.Trp391=)
c.914G= (p.Trp305=)
c.1168G=
c.410G= (p.Trp137=)
c.791G= (p.Trp264=)
c.533G= (p.Trp178=)
n.429G=
c.514G=
n.1064G=
n.1031G=
19g.11107488G>TCA404081045LDLRc.1172G>T (p.Trp391Leu)
c.914G>T (p.Trp305Leu)
c.1168G>T
c.410G>T (p.Trp137Leu)
c.791G>T (p.Trp264Leu)
c.533G>T (p.Trp178Leu)
n.429G>T
c.514G>T
n.1064G>T
n.1031G>T
 gnomAD v4
19g.11107489G>ACA030183LDLRc.1173G>A (p.Trp391Ter)
c.915G>A (p.Trp305Ter)
c.1169G>A
c.411G>A (p.Trp137Ter)
c.792G>A (p.Trp264Ter)
c.534G>A (p.Trp178Ter)
n.430G>A
c.515G>A
n.1065G>A
n.1032G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107489G>CCA10585191LDLRc.1173G>C (p.Trp391Cys)
c.915G>C (p.Trp305Cys)
c.1169G>C
c.411G>C (p.Trp137Cys)
c.792G>C (p.Trp264Cys)
c.534G>C (p.Trp178Cys)
n.430G>C
c.515G>C
n.1065G>C
n.1032G>C
 ClinVar dbSNP
19g.11107489G=CA2322768640LDLRc.1173G= (p.Trp391=)
c.915G= (p.Trp305=)
c.1169G=
c.411G= (p.Trp137=)
c.792G= (p.Trp264=)
c.534G= (p.Trp178=)
n.430G=
c.515G=
n.1065G=
n.1032G=
19g.11107489G>TCA404081046LDLRc.1173G>T (p.Trp391Cys)
c.915G>T (p.Trp305Cys)
c.1169G>T
c.411G>T (p.Trp137Cys)
c.792G>T (p.Trp264Cys)
c.534G>T (p.Trp178Cys)
n.430G>T
c.515G>T
n.1065G>T
n.1032G>T
 ClinVar dbSNP
19g.11107490_11107493dupCA10585192LDLRc.1174_1177dup (p.Asp393ValfsTer3)
c.916_919dup (p.Asp307ValfsTer3)
c.1170_1173dup
c.412_415dup (p.Asp139ValfsTer3)
c.793_796dup (p.Asp266ValfsTer3)
c.535_538dup (p.Asp180ValfsTer3)
n.431_434dup
c.516_519dup
n.1066_1069dup
n.1033_1036dup
 ClinVar dbSNP
19g.11107490T>ACA404081047LDLRc.1174T>A (p.Ser392Thr)
c.916T>A (p.Ser306Thr)
c.1170T>A
c.412T>A (p.Ser138Thr)
c.793T>A (p.Ser265Thr)
c.535T>A (p.Ser179Thr)
n.431T>A
c.516T>A
n.1066T>A
n.1033T>A
19g.11107490T>CCA404081048LDLRc.1174T>C (p.Ser392Pro)
c.916T>C (p.Ser306Pro)
c.1170T>C
c.412T>C (p.Ser138Pro)
c.793T>C (p.Ser265Pro)
c.535T>C (p.Ser179Pro)
n.431T>C
c.516T>C
n.1066T>C
n.1033T>C
19g.11107490T>GCA404081049LDLRc.1174T>G (p.Ser392Ala)
c.916T>G (p.Ser306Ala)
c.1170T>G
c.412T>G (p.Ser138Ala)
c.793T>G (p.Ser265Ala)
c.535T>G (p.Ser179Ala)
n.431T>G
c.516T>G
n.1066T>G
n.1033T>G
 dbSNP
19g.11107490T=CA2322768641LDLRc.1174T= (p.Ser392=)
c.916T= (p.Ser306=)
c.1170T=
c.412T= (p.Ser138=)
c.793T= (p.Ser265=)
c.535T= (p.Ser179=)
n.431T=
c.516T=
n.1066T=
n.1033T=
19g.11107491C>ACA10585193LDLRc.1175C>A (p.Ser392Ter)
c.917C>A (p.Ser306Ter)
c.1171C>A
c.413C>A (p.Ser138Ter)
c.794C>A (p.Ser265Ter)
c.536C>A (p.Ser179Ter)
n.432C>A
c.517C>A
n.1067C>A
n.1034C>A
 ClinVar dbSNP gnomAD v4
19g.11107491C=CA2322768642LDLRc.1175C= (p.Ser392=)
c.917C= (p.Ser306=)
c.1171C=
c.413C= (p.Ser138=)
c.794C= (p.Ser265=)
c.536C= (p.Ser179=)
n.432C=
c.517C=
n.1067C=
n.1034C=
19g.11107491C>GCA10585194LDLRc.1175C>G (p.Ser392Ter)
c.917C>G (p.Ser306Ter)
c.1171C>G
c.413C>G (p.Ser138Ter)
c.794C>G (p.Ser265Ter)
c.536C>G (p.Ser179Ter)
n.432C>G
c.517C>G
n.1067C>G
n.1034C>G
 ClinVar dbSNP
19g.11107491C>TCA10576291LDLRc.1175C>T (p.Ser392Leu)
c.917C>T (p.Ser306Leu)
c.1171C>T
c.413C>T (p.Ser138Leu)
c.794C>T (p.Ser265Leu)
c.536C>T (p.Ser179Leu)
n.432C>T
c.517C>T
n.1067C>T
n.1034C>T
 ClinVar gnomAD v4
19g.11107492A>CCA505485103LDLRc.1176A>C (p.Ser392=)
c.918A>C (p.Ser306=)
c.1172A>C
c.414A>C (p.Ser138=)
c.795A>C (p.Ser265=)
c.537A>C (p.Ser179=)
n.433A>C
c.518A>C
n.1068A>C
n.1035A>C
19g.11107492A>GCA505485104LDLRc.1176A>G (p.Ser392=)
c.918A>G (p.Ser306=)
c.1172A>G
c.414A>G (p.Ser138=)
c.795A>G (p.Ser265=)
c.537A>G (p.Ser179=)
n.433A>G
c.518A>G
n.1068A>G
n.1035A>G
19g.11107492A>TCA505485105LDLRc.1176A>T (p.Ser392=)
c.918A>T (p.Ser306=)
c.1172A>T
c.414A>T (p.Ser138=)
c.795A>T (p.Ser265=)
c.537A>T (p.Ser179=)
n.433A>T
c.518A>T
n.1068A>T
n.1035A>T
19g.11107492_11107493delinsCCCA2695228128LDLRc.1176_1177delinsCC (p.Asp393His)
c.918_919delinsCC (p.Asp307His)
c.1172_1173delinsCC
c.414_415delinsCC (p.Asp139His)
c.795_796delinsCC (p.Asp266His)
c.537_538delinsCC (p.Asp180His)
n.433_434delinsCC
c.518_519delinsCC
n.1068_1069delinsCC
n.1035_1036delinsCC
19g.11107493G>ACA10585195LDLRc.1177G>A (p.Asp393Asn)
c.919G>A (p.Asp307Asn)
c.1173G>A
c.415G>A (p.Asp139Asn)
c.796G>A (p.Asp266Asn)
c.538G>A (p.Asp180Asn)
n.434G>A
c.519G>A
n.1069G>A
n.1036G>A
 ClinVar dbSNP
19g.11107493G>CCA10585196LDLRc.1177G>C (p.Asp393His)
c.919G>C (p.Asp307His)
c.1173G>C
c.415G>C (p.Asp139His)
c.796G>C (p.Asp266His)
c.538G>C (p.Asp180His)
n.434G>C
c.519G>C
n.1069G>C
n.1036G>C
 ClinVar dbSNP gnomAD v4
19g.11107493G=CA2322768643LDLRc.1177G= (p.Asp393=)
c.919G= (p.Asp307=)
c.1173G=
c.415G= (p.Asp139=)
c.796G= (p.Asp266=)
c.538G= (p.Asp180=)
n.434G=
c.519G=
n.1069G=
n.1036G=
19g.11107493G>TCA404081050LDLRc.1177G>T (p.Asp393Tyr)
c.919G>T (p.Asp307Tyr)
c.1173G>T
c.415G>T (p.Asp139Tyr)
c.796G>T (p.Asp266Tyr)
c.538G>T (p.Asp180Tyr)
n.434G>T
c.519G>T
n.1069G>T
n.1036G>T
 ClinVar dbSNP
19g.11107494A=CA2322768644LDLRc.1178A= (p.Asp393=)
c.920A= (p.Asp307=)
c.1174A=
c.416A= (p.Asp139=)
c.797A= (p.Asp266=)
c.539A= (p.Asp180=)
n.435A=
c.520A=
n.1070A=
n.1037A=
19g.11107494A>CCA404081051LDLRc.1178A>C (p.Asp393Ala)
c.920A>C (p.Asp307Ala)
c.1174A>C
c.416A>C (p.Asp139Ala)
c.797A>C (p.Asp266Ala)
c.539A>C (p.Asp180Ala)
n.435A>C
c.520A>C
n.1070A>C
n.1037A>C
 ClinVar
19g.11107494A>GCA404081052LDLRc.1178A>G (p.Asp393Gly)
c.920A>G (p.Asp307Gly)
c.1174A>G
c.416A>G (p.Asp139Gly)
c.797A>G (p.Asp266Gly)
c.539A>G (p.Asp180Gly)
n.435A>G
c.520A>G
n.1070A>G
n.1037A>G
 ClinVar dbSNP gnomAD v4
19g.11107494A>TCA404081053LDLRc.1178A>T (p.Asp393Val)
c.920A>T (p.Asp307Val)
c.1174A>T
c.416A>T (p.Asp139Val)
c.797A>T (p.Asp266Val)
c.539A>T (p.Asp180Val)
n.435A>T
c.520A>T
n.1070A>T
n.1037A>T
19g.11107495T>ACA404081054LDLRc.1179T>A (p.Asp393Glu)
c.921T>A (p.Asp307Glu)
c.1175T>A
c.417T>A (p.Asp139Glu)
c.798T>A (p.Asp266Glu)
c.540T>A (p.Asp180Glu)
n.436T>A
c.521T>A
n.1071T>A
n.1038T>A
 gnomAD v4
19g.11107495T>CCA505485106LDLRc.1179T>C (p.Asp393=)
c.921T>C (p.Asp307=)
c.1175T>C
c.417T>C (p.Asp139=)
c.798T>C (p.Asp266=)
c.540T>C (p.Asp180=)
n.436T>C
c.521T>C
n.1071T>C
n.1038T>C
 gnomAD v4
19g.11107495T>GCA10585197LDLRc.1179T>G (p.Asp393Glu)
c.921T>G (p.Asp307Glu)
c.1175T>G
c.417T>G (p.Asp139Glu)
c.798T>G (p.Asp266Glu)
c.540T>G (p.Asp180Glu)
n.436T>G
c.521T>G
n.1071T>G
n.1038T>G
 ClinVar dbSNP
19g.11107495T=CA2322768645LDLRc.1179T= (p.Asp393=)
c.921T= (p.Asp307=)
c.1175T=
c.417T= (p.Asp139=)
c.798T= (p.Asp266=)
c.540T= (p.Asp180=)
n.436T=
c.521T=
n.1071T=
n.1038T=
19g.11107496G>ACA10585198LDLRc.1180G>A (p.Glu394Lys)
c.922G>A (p.Glu308Lys)
c.1176G>A
c.418G>A (p.Glu140Lys)
c.799G>A (p.Glu267Lys)
c.541G>A (p.Glu181Lys)
n.437G>A
c.522G>A
n.1072G>A
n.1039G>A
 ClinVar dbSNP
19g.11107496G>CCA404081055LDLRc.1180G>C (p.Glu394Gln)
c.922G>C (p.Glu308Gln)
c.1176G>C
c.418G>C (p.Glu140Gln)
c.799G>C (p.Glu267Gln)
c.541G>C (p.Glu181Gln)
n.437G>C
c.522G>C
n.1072G>C
n.1039G>C
19g.11107496G=CA2322768646LDLRc.1180G= (p.Glu394=)
c.922G= (p.Glu308=)
c.1176G=
c.418G= (p.Glu140=)
c.799G= (p.Glu267=)
c.541G= (p.Glu181=)
n.437G=
c.522G=
n.1072G=
n.1039G=
19g.11107496G>TCA404081056LDLRc.1180G>T (p.Glu394Ter)
c.922G>T (p.Glu308Ter)
c.1176G>T
c.418G>T (p.Glu140Ter)
c.799G>T (p.Glu267Ter)
c.541G>T (p.Glu181Ter)
n.437G>T
c.522G>T
n.1072G>T
n.1039G>T
 ClinVar dbSNP
19g.11107497A>CCA404081057LDLRc.1181A>C (p.Glu394Ala)
c.923A>C (p.Glu308Ala)
c.1177A>C
c.419A>C (p.Glu140Ala)
c.800A>C (p.Glu267Ala)
c.542A>C (p.Glu181Ala)
n.438A>C
c.523A>C
n.1073A>C
n.1040A>C
19g.11107497A>GCA404081058LDLRc.1181A>G (p.Glu394Gly)
c.923A>G (p.Glu308Gly)
c.1177A>G
c.419A>G (p.Glu140Gly)
c.800A>G (p.Glu267Gly)
c.542A>G (p.Glu181Gly)
n.438A>G
c.523A>G
n.1073A>G
n.1040A>G
19g.11107497A>TCA404081059LDLRc.1181A>T (p.Glu394Val)
c.923A>T (p.Glu308Val)
c.1177A>T
c.419A>T (p.Glu140Val)
c.800A>T (p.Glu267Val)
c.542A>T (p.Glu181Val)
n.438A>T
c.523A>T
n.1073A>T
n.1040A>T
19g.11107497_11107504delinsAACCCATCCA2322768647LDLRc.1181_1188delinsAACCCATC (p.Glu394=)
c.923_930delinsAACCCATC (p.Glu308=)
c.1177_1184delinsAACCCATC
c.419_426delinsAACCCATC (p.Glu140=)
c.800_807delinsAACCCATC (p.Glu267=)
c.542_549delinsAACCCATC (p.Glu181=)
n.438_445delinsAACCCATC
c.523_530delinsAACCCATC
n.1073_1080delinsAACCCATC
n.1040_1047delinsAACCCATC
19g.11107498A=CA2322768648LDLRc.1182A= (p.Glu394=)
c.924A= (p.Glu308=)
c.1178A=
c.420A= (p.Glu140=)
c.801A= (p.Glu267=)
c.543A= (p.Glu181=)
n.439A=
c.524A=
n.1074A=
n.1041A=
19g.11107498A>CCA404081060LDLRc.1182A>C (p.Glu394Asp)
c.924A>C (p.Glu308Asp)
c.1178A>C
c.420A>C (p.Glu140Asp)
c.801A>C (p.Glu267Asp)
c.543A>C (p.Glu181Asp)
n.439A>C
c.524A>C
n.1074A>C
n.1041A>C
19g.11107498A>GCA505485107LDLRc.1182A>G (p.Glu394=)
c.924A>G (p.Glu308=)
c.1178A>G
c.420A>G (p.Glu140=)
c.801A>G (p.Glu267=)
c.543A>G (p.Glu181=)
n.439A>G
c.524A>G
n.1074A>G
n.1041A>G
 ClinVar dbSNP gnomAD v4
19g.11107498A>TCA16602317LDLRc.1182A>T (p.Glu394Asp)
c.924A>T (p.Glu308Asp)
c.1178A>T
c.420A>T (p.Glu140Asp)
c.801A>T (p.Glu267Asp)
c.543A>T (p.Glu181Asp)
n.439A>T
c.524A>T
n.1074A>T
n.1041A>T
 ClinVar dbSNP
19g.11107499_11107505delCA023793LDLRc.1183_1189del (p.Pro395LysfsTer?)
c.925_931del (p.Pro309LysfsTer?)
c.925_931del (p.Pro309LysfsTer19)
c.1179_1185del
c.421_427del (p.Pro141LysfsTer?)
c.802_808del (p.Pro268LysfsTer?)
c.544_550del (p.Pro182LysfsTer?)
n.440_446del
c.525_531del
n.1075_1081del
n.1042_1048del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11107499C>ACA404081062LDLRc.1183C>A (p.Pro395Thr)
c.925C>A (p.Pro309Thr)
c.1179C>A
c.421C>A (p.Pro141Thr)
c.802C>A (p.Pro268Thr)
c.544C>A (p.Pro182Thr)
n.440C>A
c.525C>A
n.1075C>A
n.1042C>A
19g.11107499C>GCA404081061LDLRc.1183C>G (p.Pro395Ala)
c.925C>G (p.Pro309Ala)
c.1179C>G
c.421C>G (p.Pro141Ala)
c.802C>G (p.Pro268Ala)
c.544C>G (p.Pro182Ala)
n.440C>G
c.525C>G
n.1075C>G
n.1042C>G
 gnomAD v4
19g.11107499C>TCA404081063LDLRc.1183C>T (p.Pro395Ser)
c.925C>T (p.Pro309Ser)
c.1179C>T
c.421C>T (p.Pro141Ser)
c.802C>T (p.Pro268Ser)
c.544C>T (p.Pro182Ser)
n.440C>T
c.525C>T
n.1075C>T
n.1042C>T
19g.11107500C>ACA404081066LDLRc.1184C>A (p.Pro395His)
c.926C>A (p.Pro309His)
c.1180C>A
c.422C>A (p.Pro141His)
c.803C>A (p.Pro268His)
c.545C>A (p.Pro182His)
n.441C>A
c.526C>A
n.1076C>A
n.1043C>A
 ClinVar dbSNP
19g.11107500C=CA2322768649LDLRc.1184C= (p.Pro395=)
c.926C= (p.Pro309=)
c.1180C=
c.422C= (p.Pro141=)
c.803C= (p.Pro268=)
c.545C= (p.Pro182=)
n.441C=
c.526C=
n.1076C=
n.1043C=
19g.11107500C>GCA404081064LDLRc.1184C>G (p.Pro395Arg)
c.926C>G (p.Pro309Arg)
c.1180C>G
c.422C>G (p.Pro141Arg)
c.803C>G (p.Pro268Arg)
c.545C>G (p.Pro182Arg)
n.441C>G
c.526C>G
n.1076C>G
n.1043C>G
19g.11107500C>TCA404081065LDLRc.1184C>T (p.Pro395Leu)
c.926C>T (p.Pro309Leu)
c.1180C>T
c.422C>T (p.Pro141Leu)
c.803C>T (p.Pro268Leu)
c.545C>T (p.Pro182Leu)
n.441C>T
c.526C>T
n.1076C>T
n.1043C>T
19g.11107501C>ACA505485110LDLRc.1185C>A (p.Pro395=)
c.927C>A (p.Pro309=)
c.1181C>A
c.423C>A (p.Pro141=)
c.804C>A (p.Pro268=)
c.546C>A (p.Pro182=)
n.442C>A
c.527C>A
n.1077C>A
n.1044C>A
 gnomAD v4
19g.11107501C=CA2322768650LDLRc.1185C= (p.Pro395=)
c.927C= (p.Pro309=)
c.1181C=
c.423C= (p.Pro141=)
c.804C= (p.Pro268=)
c.546C= (p.Pro182=)
n.442C=
c.527C=
n.1077C=
n.1044C=
19g.11107501C>GCA505485108LDLRc.1185C>G (p.Pro395=)
c.927C>G (p.Pro309=)
c.1181C>G
c.423C>G (p.Pro141=)
c.804C>G (p.Pro268=)
c.546C>G (p.Pro182=)
n.442C>G
c.527C>G
n.1077C>G
n.1044C>G
19g.11107501C>TCA505485109LDLRc.1185C>T (p.Pro395=)
c.927C>T (p.Pro309=)
c.1181C>T
c.423C>T (p.Pro141=)
c.804C>T (p.Pro268=)
c.546C>T (p.Pro182=)
n.442C>T
c.527C>T
n.1077C>T
n.1044C>T
19g.11107502A=CA2322768651LDLRc.1186A= (p.Ile396=)
c.928A= (p.Ile310=)
c.1182A=
c.424A= (p.Ile142=)
c.805A= (p.Ile269=)
c.547A= (p.Ile183=)
n.443A=
c.528A=
n.1078A=
n.1045A=
19g.11107502A>CCA404081067LDLRc.1186A>C (p.Ile396Leu)
c.928A>C (p.Ile310Leu)
c.1182A>C
c.424A>C (p.Ile142Leu)
c.805A>C (p.Ile269Leu)
c.547A>C (p.Ile183Leu)
n.443A>C
c.528A>C
n.1078A>C
n.1045A>C
19g.11107502A>GCA404081068LDLRc.1186A>G (p.Ile396Val)
c.928A>G (p.Ile310Val)
c.1182A>G
c.424A>G (p.Ile142Val)
c.805A>G (p.Ile269Val)
c.547A>G (p.Ile183Val)
n.443A>G
c.528A>G
n.1078A>G
n.1045A>G
19g.11107502A>TCA030202LDLRc.1186A>T (p.Ile396Phe)
c.928A>T (p.Ile310Phe)
c.1182A>T
c.424A>T (p.Ile142Phe)
c.805A>T (p.Ile269Phe)
c.547A>T (p.Ile183Phe)
n.443A>T
c.528A>T
n.1078A>T
n.1045A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107502dupCA658653708LDLRc.1186dup (p.Ile396AsnfsTer22)
c.928dup (p.Ile310AsnfsTer22)
c.928dup (p.Ile310AsnfsTer8)
c.1182dup
c.424dup (p.Ile142AsnfsTer22)
c.805dup (p.Ile269AsnfsTer22)
c.547dup (p.Ile183AsnfsTer22)
n.443dup
c.528dup
n.1078dup
n.1045dup
 ClinVar dbSNP
19g.11107503T>ACA404081069LDLRc.1187T>A (p.Ile396Asn)
c.929T>A (p.Ile310Asn)
c.1183T>A
c.425T>A (p.Ile142Asn)
c.806T>A (p.Ile269Asn)
c.548T>A (p.Ile183Asn)
n.444T>A
c.529T>A
n.1079T>A
n.1046T>A
 ClinVar dbSNP gnomAD v4
19g.11107503T>CCA10585199LDLRc.1187T>C (p.Ile396Thr)
c.929T>C (p.Ile310Thr)
c.1183T>C
c.425T>C (p.Ile142Thr)
c.806T>C (p.Ile269Thr)
c.548T>C (p.Ile183Thr)
n.444T>C
c.529T>C
n.1079T>C
n.1046T>C
 ClinVar dbSNP
19g.11107503T>GCA404081070LDLRc.1187T>G (p.Ile396Ser)
c.929T>G (p.Ile310Ser)
c.1183T>G
c.425T>G (p.Ile142Ser)
c.806T>G (p.Ile269Ser)
c.548T>G (p.Ile183Ser)
n.444T>G
c.529T>G
n.1079T>G
n.1046T>G
19g.11107503T=CA2322768652LDLRc.1187T= (p.Ile396=)
c.929T= (p.Ile310=)
c.1183T=
c.425T= (p.Ile142=)
c.806T= (p.Ile269=)
c.548T= (p.Ile183=)
n.444T=
c.529T=
n.1079T=
n.1046T=

Number of alleles fetched