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.11102785_11107393delCA916084172LDLRc.570_1077del
c.312_819del
c.566_1073del
c.312_315del
c.191-2435_696del
c.312_438del
n.462_969del
n.429_936del
19g.11104109_11109216delCA2573050567LDLRc.572-1111_1199-1436del
c.314-1111_941-1436del
c.314-1111_940+1702del
c.568-1111_1195-1436del
c.313+1323_437-1436del
c.191-1111_818-1436del
c.313+1323_560-1436del
n.464-1111_1091-1436del
n.431-1111_1058-1436del
19g.11104774_11112892dupCA2580612594LDLRc.572-446_1445-386dup
c.314-446_1187-386dup
c.314-446_1067-386dup
c.568-446_1441-386dup
c.313+1988_683-386dup
c.191-446_1064-386dup
c.314-1791_806-386dup
n.464-446_1337-386dup
n.431-446_1304-386dup
19g.11105158_11111699dupCA2580612596LDLRc.572-62_1444+60dup
c.314-62_1186+60dup
c.314-62_1066+60dup
c.568-62_1440+60dup
c.314-2234_682+60dup
c.191-62_1063+60dup
c.314-1407_805+60dup
n.464-62_1336+60dup
n.431-62_1303+60dup
19g.11105170_11111689dupCA2580612597LDLRc.572-50_1444+50dup
c.314-50_1186+50dup
c.314-50_1066+50dup
c.568-50_1440+50dup
c.314-2222_682+50dup
c.191-50_1063+50dup
c.314-1395_805+50dup
n.464-50_1336+50dup
n.431-50_1303+50dup
19g.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.11106684_11107392delCA645509269LDLRc.1072_1076del
c.814_818del
c.1068_1072del
c.314-708_314del
c.691_695del
c.433_437del
n.329_333del
c.414_418del
n.964_968del
n.931_935del
 ClinVar
19g.11107350delCA2582473971LDLRc.1076-42del (n.1076-42del)
c.818-42del (n.818-42del)
c.1072-42del
c.314-42del (n.314-42del)
c.695-42del (n.695-42del)
c.437-42del (n.437-42del)
n.333-42del
c.418-42del
n.968-42del
n.935-42del
 gnomAD v4
19g.11107350G=CA2322768542LDLRc.1076-42G= (n.1076-42G=)
c.818-42G= (n.818-42G=)
c.1072-42G=
c.314-42G= (n.314-42G=)
c.695-42G= (n.695-42G=)
c.437-42G= (n.437-42G=)
n.333-42G=
c.418-42G=
n.968-42G=
n.935-42G=
19g.11107350G>TCA2322768543LDLRc.1076-42G>T (n.1076-42G>T)
c.818-42G>T (n.818-42G>T)
c.1072-42G>T
c.314-42G>T (n.314-42G>T)
c.695-42G>T (n.695-42G>T)
c.437-42G>T (n.437-42G>T)
n.333-42G>T
c.418-42G>T
n.968-42G>T
n.935-42G>T
 dbSNP
19g.11107351A=CA2322768544LDLRc.1076-41A= (n.1076-41A=)
c.818-41A= (n.818-41A=)
c.1072-41A=
c.314-41A= (n.314-41A=)
c.695-41A= (n.695-41A=)
c.437-41A= (n.437-41A=)
n.333-41A=
c.418-41A=
n.968-41A=
n.935-41A=
19g.11107351A>GCA783244366LDLRc.1076-41A>G (n.1076-41A>G)
c.818-41A>G (n.818-41A>G)
c.1072-41A>G
c.314-41A>G (n.314-41A>G)
c.695-41A>G (n.695-41A>G)
c.437-41A>G (n.437-41A>G)
n.333-41A>G
c.418-41A>G
n.968-41A>G
n.935-41A>G
 dbSNP gnomAD v4
19g.11107352C>TCA2582473972LDLRc.1076-40C>T (n.1076-40C>T)
c.818-40C>T (n.818-40C>T)
c.1072-40C>T
c.314-40C>T (n.314-40C>T)
c.695-40C>T (n.695-40C>T)
c.437-40C>T (n.437-40C>T)
n.333-40C>T
c.418-40C>T
n.968-40C>T
n.935-40C>T
 gnomAD v4
19g.11107353A>CCA2582473973LDLRc.1076-39A>C (n.1076-39A>C)
c.818-39A>C (n.818-39A>C)
c.1072-39A>C
c.314-39A>C (n.314-39A>C)
c.695-39A>C (n.695-39A>C)
c.437-39A>C (n.437-39A>C)
n.333-39A>C
c.418-39A>C
n.968-39A>C
n.935-39A>C
 gnomAD v4
19g.11107353A>TCA2813590222LDLRc.1076-39A>T (n.1076-39A>T)
c.818-39A>T (n.818-39A>T)
c.1072-39A>T
c.314-39A>T (n.314-39A>T)
c.695-39A>T (n.695-39A>T)
c.437-39A>T (n.437-39A>T)
n.333-39A>T
c.418-39A>T
n.968-39A>T
n.935-39A>T
19g.11107354C>GCA2735608220LDLRc.1076-38C>G (n.1076-38C>G)
c.818-38C>G (n.818-38C>G)
c.1072-38C>G
c.314-38C>G (n.314-38C>G)
c.695-38C>G (n.695-38C>G)
c.437-38C>G (n.437-38C>G)
n.333-38C>G
c.418-38C>G
n.968-38C>G
n.935-38C>G
 dbSNP
19g.11107355A=CA2322768545LDLRc.1076-37A= (n.1076-37A=)
c.818-37A= (n.818-37A=)
c.1072-37A=
c.314-37A= (n.314-37A=)
c.695-37A= (n.695-37A=)
c.437-37A= (n.437-37A=)
n.333-37A=
c.418-37A=
n.968-37A=
n.935-37A=
19g.11107355A>GCA993533853LDLRc.1076-37A>G (n.1076-37A>G)
c.818-37A>G (n.818-37A>G)
c.1072-37A>G
c.314-37A>G (n.314-37A>G)
c.695-37A>G (n.695-37A>G)
c.437-37A>G (n.437-37A>G)
n.333-37A>G
c.418-37A>G
n.968-37A>G
n.935-37A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11107356C>GCA2582473974LDLRc.1076-36C>G (n.1076-36C>G)
c.818-36C>G (n.818-36C>G)
c.1072-36C>G
c.314-36C>G (n.314-36C>G)
c.695-36C>G (n.695-36C>G)
c.437-36C>G (n.437-36C>G)
n.333-36C>G
c.418-36C>G
n.968-36C>G
n.935-36C>G
 gnomAD v4
19g.11107356C>TCA2582473975LDLRc.1076-36C>T (n.1076-36C>T)
c.818-36C>T (n.818-36C>T)
c.1072-36C>T
c.314-36C>T (n.314-36C>T)
c.695-36C>T (n.695-36C>T)
c.437-36C>T (n.437-36C>T)
n.333-36C>T
c.418-36C>T
n.968-36C>T
n.935-36C>T
 gnomAD v4
19g.11107357C=CA2322768546LDLRc.1076-35C= (n.1076-35C=)
c.818-35C= (n.818-35C=)
c.1072-35C=
c.314-35C= (n.314-35C=)
c.695-35C= (n.695-35C=)
c.437-35C= (n.437-35C=)
n.333-35C=
c.418-35C=
n.968-35C=
n.935-35C=
19g.11107357C>GCA631764296LDLRc.1076-35C>G (n.1076-35C>G)
c.818-35C>G (n.818-35C>G)
c.1072-35C>G
c.314-35C>G (n.314-35C>G)
c.695-35C>G (n.695-35C>G)
c.437-35C>G (n.437-35C>G)
n.333-35C>G
c.418-35C>G
n.968-35C>G
n.935-35C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11107357C>TCA2582473976LDLRc.1076-35C>T (n.1076-35C>T)
c.818-35C>T (n.818-35C>T)
c.1072-35C>T
c.314-35C>T (n.314-35C>T)
c.695-35C>T (n.695-35C>T)
c.437-35C>T (n.437-35C>T)
n.333-35C>T
c.418-35C>T
n.968-35C>T
n.935-35C>T
 gnomAD v4
19g.11107358T>GCA2582473977LDLRc.1076-34T>G (n.1076-34T>G)
c.818-34T>G (n.818-34T>G)
c.1072-34T>G
c.314-34T>G (n.314-34T>G)
c.695-34T>G (n.695-34T>G)
c.437-34T>G (n.437-34T>G)
n.333-34T>G
c.418-34T>G
n.968-34T>G
n.935-34T>G
 gnomAD v4
19g.11107360A=CA2322768547LDLRc.1076-32A= (n.1076-32A=)
c.818-32A= (n.818-32A=)
c.1072-32A=
c.314-32A= (n.314-32A=)
c.695-32A= (n.695-32A=)
c.437-32A= (n.437-32A=)
n.333-32A=
c.418-32A=
n.968-32A=
n.935-32A=
19g.11107360A>GCA305298506LDLRc.1076-32A>G (n.1076-32A>G)
c.818-32A>G (n.818-32A>G)
c.1072-32A>G
c.314-32A>G (n.314-32A>G)
c.695-32A>G (n.695-32A>G)
c.437-32A>G (n.437-32A>G)
n.333-32A>G
c.418-32A>G
n.968-32A>G
n.935-32A>G
 dbSNP
19g.11107360A>TCA2582473978LDLRc.1076-32A>T (n.1076-32A>T)
c.818-32A>T (n.818-32A>T)
c.1072-32A>T
c.314-32A>T (n.314-32A>T)
c.695-32A>T (n.695-32A>T)
c.437-32A>T (n.437-32A>T)
n.333-32A>T
c.418-32A>T
n.968-32A>T
n.935-32A>T
 gnomAD v4
19g.11107362C>ACA2322768549LDLRc.1076-30C>A (n.1076-30C>A)
c.818-30C>A (n.818-30C>A)
c.1072-30C>A
c.314-30C>A (n.314-30C>A)
c.695-30C>A (n.695-30C>A)
c.437-30C>A (n.437-30C>A)
n.333-30C>A
c.418-30C>A
n.968-30C>A
n.935-30C>A
 dbSNP
19g.11107362C=CA2322768548LDLRc.1076-30C= (n.1076-30C=)
c.818-30C= (n.818-30C=)
c.1072-30C=
c.314-30C= (n.314-30C=)
c.695-30C= (n.695-30C=)
c.437-30C= (n.437-30C=)
n.333-30C=
c.418-30C=
n.968-30C=
n.935-30C=
19g.11107362C>TCA2582473979LDLRc.1076-30C>T (n.1076-30C>T)
c.818-30C>T (n.818-30C>T)
c.1072-30C>T
c.314-30C>T (n.314-30C>T)
c.695-30C>T (n.695-30C>T)
c.437-30C>T (n.437-30C>T)
n.333-30C>T
c.418-30C>T
n.968-30C>T
n.935-30C>T
 gnomAD v4
19g.11107363T>CCA2582473980LDLRc.1076-29T>C (n.1076-29T>C)
c.818-29T>C (n.818-29T>C)
c.1072-29T>C
c.314-29T>C (n.314-29T>C)
c.695-29T>C (n.695-29T>C)
c.437-29T>C (n.437-29T>C)
n.333-29T>C
c.418-29T>C
n.968-29T>C
n.935-29T>C
 gnomAD v4
19g.11107363T>GCA631764298LDLRc.1076-29T>G (n.1076-29T>G)
c.818-29T>G (n.818-29T>G)
c.1072-29T>G
c.314-29T>G (n.314-29T>G)
c.695-29T>G (n.695-29T>G)
c.437-29T>G (n.437-29T>G)
n.333-29T>G
c.418-29T>G
n.968-29T>G
n.935-29T>G
 dbSNP gnomAD v2 gnomAD v4
19g.11107363T=CA2322768550LDLRc.1076-29T= (n.1076-29T=)
c.818-29T= (n.818-29T=)
c.1072-29T=
c.314-29T= (n.314-29T=)
c.695-29T= (n.695-29T=)
c.437-29T= (n.437-29T=)
n.333-29T=
c.418-29T=
n.968-29T=
n.935-29T=
19g.11107365C=CA2322768551LDLRc.1076-27C= (n.1076-27C=)
c.818-27C= (n.818-27C=)
c.1072-27C=
c.314-27C= (n.314-27C=)
c.695-27C= (n.695-27C=)
c.437-27C= (n.437-27C=)
n.333-27C=
c.418-27C=
n.968-27C=
n.935-27C=
19g.11107365C>TCA993533855LDLRc.1076-27C>T (n.1076-27C>T)
c.818-27C>T (n.818-27C>T)
c.1072-27C>T
c.314-27C>T (n.314-27C>T)
c.695-27C>T (n.695-27C>T)
c.437-27C>T (n.437-27C>T)
n.333-27C>T
c.418-27C>T
n.968-27C>T
n.935-27C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11107366_11107369delCA2582473981LDLRc.1076-26_1076-23del (n.1076-26_1076-23del)
c.818-26_818-23del (n.818-26_818-23del)
c.1072-26_1072-23del
c.314-26_314-23del (n.314-26_314-23del)
c.695-26_695-23del (n.695-26_695-23del)
c.437-26_437-23del (n.437-26_437-23del)
n.333-26_333-23del
c.418-26_418-23del
n.968-26_968-23del
n.935-26_935-23del
 gnomAD v4
19g.11107369C=CA2322768552LDLRc.1076-23C= (n.1076-23C=)
c.818-23C= (n.818-23C=)
c.1072-23C=
c.314-23C= (n.314-23C=)
c.695-23C= (n.695-23C=)
c.437-23C= (n.437-23C=)
n.333-23C=
c.418-23C=
n.968-23C=
n.935-23C=
19g.11107369C>GCA993533857LDLRc.1076-23C>G (n.1076-23C>G)
c.818-23C>G (n.818-23C>G)
c.1072-23C>G
c.314-23C>G (n.314-23C>G)
c.695-23C>G (n.695-23C>G)
c.437-23C>G (n.437-23C>G)
n.333-23C>G
c.418-23C>G
n.968-23C>G
n.935-23C>G
 dbSNP gnomAD v3 gnomAD v4
19g.11107369C>TCA029663LDLRc.1076-23C>T (n.1076-23C>T)
c.818-23C>T (n.818-23C>T)
c.1072-23C>T
c.314-23C>T (n.314-23C>T)
c.695-23C>T (n.695-23C>T)
c.437-23C>T (n.437-23C>T)
n.333-23C>T
c.418-23C>T
n.968-23C>T
n.935-23C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107372C=CA2322768554LDLRc.1076-20C= (n.1076-20C=)
c.818-20C= (n.818-20C=)
c.1072-20C=
c.314-20C= (n.314-20C=)
c.695-20C= (n.695-20C=)
c.437-20C= (n.437-20C=)
n.333-20C=
c.418-20C=
n.968-20C=
n.935-20C=
19g.11107372C>GCA2322768553LDLRc.1076-20C>G (n.1076-20C>G)
c.818-20C>G (n.818-20C>G)
c.1072-20C>G
c.314-20C>G (n.314-20C>G)
c.695-20C>G (n.695-20C>G)
c.437-20C>G (n.437-20C>G)
n.333-20C>G
c.418-20C>G
n.968-20C>G
n.935-20C>G
 ClinVar dbSNP
19g.11107372C>TCA993533860LDLRc.1076-20C>T (n.1076-20C>T)
c.818-20C>T (n.818-20C>T)
c.1072-20C>T
c.314-20C>T (n.314-20C>T)
c.695-20C>T (n.695-20C>T)
c.437-20C>T (n.437-20C>T)
n.333-20C>T
c.418-20C>T
n.968-20C>T
n.935-20C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11107379_11107380dupCA2582473982LDLRc.1076-13_1076-12dup (n.1076-13_1076-12dup)
c.818-13_818-12dup (n.818-13_818-12dup)
c.1072-13_1072-12dup
c.314-13_314-12dup (n.314-13_314-12dup)
c.695-13_695-12dup (n.695-13_695-12dup)
c.437-13_437-12dup (n.437-13_437-12dup)
n.333-13_333-12dup
c.418-13_418-12dup
n.968-13_968-12dup
n.935-13_935-12dup
 gnomAD v4
19g.11107375C>ACA2813590223LDLRc.1076-17C>A (n.1076-17C>A)
c.818-17C>A (n.818-17C>A)
c.1072-17C>A
c.314-17C>A (n.314-17C>A)
c.695-17C>A (n.695-17C>A)
c.437-17C>A (n.437-17C>A)
n.333-17C>A
c.418-17C>A
n.968-17C>A
n.935-17C>A
19g.11107377C=CA2322768555LDLRc.1076-15C= (n.1076-15C=)
c.818-15C= (n.818-15C=)
c.1072-15C=
c.314-15C= (n.314-15C=)
c.695-15C= (n.695-15C=)
c.437-15C= (n.437-15C=)
n.333-15C=
c.418-15C=
n.968-15C=
n.935-15C=
19g.11107377C>GCA029652LDLRc.1076-15C>G (n.1076-15C>G)
c.818-15C>G (n.818-15C>G)
c.1072-15C>G
c.314-15C>G (n.314-15C>G)
c.695-15C>G (n.695-15C>G)
c.437-15C>G (n.437-15C>G)
n.333-15C>G
c.418-15C>G
n.968-15C>G
n.935-15C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107377C>TCA2582473983LDLRc.1076-15C>T (n.1076-15C>T)
c.818-15C>T (n.818-15C>T)
c.1072-15C>T
c.314-15C>T (n.314-15C>T)
c.695-15C>T (n.695-15C>T)
c.437-15C>T (n.437-15C>T)
n.333-15C>T
c.418-15C>T
n.968-15C>T
n.935-15C>T
 gnomAD v4
19g.11107378T>GCA2582473984LDLRc.1076-14T>G (n.1076-14T>G)
c.818-14T>G (n.818-14T>G)
c.1072-14T>G
c.314-14T>G (n.314-14T>G)
c.695-14T>G (n.695-14T>G)
c.437-14T>G (n.437-14T>G)
n.333-14T>G
c.418-14T>G
n.968-14T>G
n.935-14T>G
 gnomAD v4
19g.11107379C>TCA2739276483LDLRc.1076-13C>T (n.1076-13C>T)
c.818-13C>T (n.818-13C>T)
c.1072-13C>T
c.314-13C>T (n.314-13C>T)
c.695-13C>T (n.695-13C>T)
c.437-13C>T (n.437-13C>T)
n.333-13C>T
c.418-13C>T
n.968-13C>T
n.935-13C>T
 ClinVar
19g.11107385C>ACA305298507LDLRc.1076-7C>A (n.1076-7C>A)
c.818-7C>A (n.818-7C>A)
c.1072-7C>A
c.314-7C>A (n.314-7C>A)
c.695-7C>A (n.695-7C>A)
c.437-7C>A (n.437-7C>A)
n.333-7C>A
c.418-7C>A
n.968-7C>A
n.935-7C>A
 ClinVar dbSNP
19g.11107385C=CA2322768556LDLRc.1076-7C= (n.1076-7C=)
c.818-7C= (n.818-7C=)
c.1072-7C=
c.314-7C= (n.314-7C=)
c.695-7C= (n.695-7C=)
c.437-7C= (n.437-7C=)
n.333-7C=
c.418-7C=
n.968-7C=
n.935-7C=
19g.11107385C>GCA2322768557LDLRc.1076-7C>G (n.1076-7C>G)
c.818-7C>G (n.818-7C>G)
c.1072-7C>G
c.314-7C>G (n.314-7C>G)
c.695-7C>G (n.695-7C>G)
c.437-7C>G (n.437-7C>G)
n.333-7C>G
c.418-7C>G
n.968-7C>G
n.935-7C>G
 ClinVar dbSNP
19g.11107385C>TCA2582473985LDLRc.1076-7C>T (n.1076-7C>T)
c.818-7C>T (n.818-7C>T)
c.1072-7C>T
c.314-7C>T (n.314-7C>T)
c.695-7C>T (n.695-7C>T)
c.437-7C>T (n.437-7C>T)
n.333-7C>T
c.418-7C>T
n.968-7C>T
n.935-7C>T
 gnomAD v4
19g.11107387C>ACA2582473986LDLRc.1076-5C>A (n.1076-5C>A)
c.818-5C>A (n.818-5C>A)
c.1072-5C>A
c.314-5C>A (n.314-5C>A)
c.695-5C>A (n.695-5C>A)
c.437-5C>A (n.437-5C>A)
n.333-5C>A
c.418-5C>A
n.968-5C>A
n.935-5C>A
 gnomAD v4
19g.11107387C>TCA2580096282LDLRc.1076-5C>T (n.1076-5C>T)
c.818-5C>T (n.818-5C>T)
c.1072-5C>T
c.314-5C>T (n.314-5C>T)
c.695-5C>T (n.695-5C>T)
c.437-5C>T (n.437-5C>T)
n.333-5C>T
c.418-5C>T
n.968-5C>T
n.935-5C>T
 ClinVar gnomAD v4
19g.11107388A>GCA2739276484LDLRc.1076-4A>G (n.1076-4A>G)
c.818-4A>G (n.818-4A>G)
c.1072-4A>G
c.314-4A>G (n.314-4A>G)
c.695-4A>G (n.695-4A>G)
c.437-4A>G (n.437-4A>G)
n.333-4A>G
c.418-4A>G
n.968-4A>G
n.935-4A>G
 ClinVar
19g.11107389C=CA2322768558LDLRc.1076-3C= (n.1076-3C=)
c.818-3C= (n.818-3C=)
c.1072-3C=
c.314-3C= (n.314-3C=)
c.695-3C= (n.695-3C=)
c.437-3C= (n.437-3C=)
n.333-3C=
c.418-3C=
n.968-3C=
n.935-3C=
19g.11107389C>GCA10588894LDLRc.1076-3C>G (n.1076-3C>G)
c.818-3C>G (n.818-3C>G)
c.1072-3C>G
c.314-3C>G (n.314-3C>G)
c.695-3C>G (n.695-3C>G)
c.437-3C>G (n.437-3C>G)
n.333-3C>G
c.418-3C>G
n.968-3C>G
n.935-3C>G
 ClinVar dbSNP
19g.11107389C>TCA631764305LDLRc.1076-3C>T (n.1076-3C>T)
c.818-3C>T (n.818-3C>T)
c.1072-3C>T
c.314-3C>T (n.314-3C>T)
c.695-3C>T (n.695-3C>T)
c.437-3C>T (n.437-3C>T)
n.333-3C>T
c.418-3C>T
n.968-3C>T
n.935-3C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11107390A=CA2322768559LDLRc.1076-2A= (n.1076-2A=)
c.818-2A= (n.818-2A=)
c.1072-2A=
c.314-2A= (n.314-2A=)
c.695-2A= (n.695-2A=)
c.437-2A= (n.437-2A=)
n.333-2A=
c.418-2A=
n.968-2A=
n.935-2A=
19g.11107390A>CCA404080458LDLRc.1076-2A>C (n.1076-2A>C)
c.818-2A>C (n.818-2A>C)
c.1072-2A>C
c.314-2A>C (n.314-2A>C)
c.695-2A>C (n.695-2A>C)
c.437-2A>C (n.437-2A>C)
n.333-2A>C
c.418-2A>C
n.968-2A>C
n.935-2A>C
19g.11107390A>GCA10585149LDLRc.1076-2A>G (n.1076-2A>G)
c.818-2A>G (n.818-2A>G)
c.1072-2A>G
c.314-2A>G (n.314-2A>G)
c.695-2A>G (n.695-2A>G)
c.437-2A>G (n.437-2A>G)
n.333-2A>G
c.418-2A>G
n.968-2A>G
n.935-2A>G
 ClinVar dbSNP
19g.11107390A>TCA404080462LDLRc.1076-2A>T (n.1076-2A>T)
c.818-2A>T (n.818-2A>T)
c.1072-2A>T
c.314-2A>T (n.314-2A>T)
c.695-2A>T (n.695-2A>T)
c.437-2A>T (n.437-2A>T)
n.333-2A>T
c.418-2A>T
n.968-2A>T
n.935-2A>T
19g.11107391G>ACA10585150LDLRc.1076-1G>A (n.1076-1G>A)
c.818-1G>A (n.818-1G>A)
c.1072-1G>A
c.314-1G>A (n.314-1G>A)
c.695-1G>A (n.695-1G>A)
c.437-1G>A (n.437-1G>A)
n.333-1G>A
c.418-1G>A
n.968-1G>A
n.935-1G>A
 ClinVar dbSNP gnomAD v4
19g.11107391G>CCA404080465LDLRc.1076-1G>C (n.1076-1G>C)
c.818-1G>C (n.818-1G>C)
c.1072-1G>C
c.314-1G>C (n.314-1G>C)
c.695-1G>C (n.695-1G>C)
c.437-1G>C (n.437-1G>C)
n.333-1G>C
c.418-1G>C
n.968-1G>C
n.935-1G>C
19g.11107391G=CA2322768560LDLRc.1076-1G= (n.1076-1G=)
c.818-1G= (n.818-1G=)
c.1072-1G=
c.314-1G= (n.314-1G=)
c.695-1G= (n.695-1G=)
c.437-1G= (n.437-1G=)
n.333-1G=
c.418-1G=
n.968-1G=
n.935-1G=
19g.11107391G>TCA404080468LDLRc.1076-1G>T (n.1076-1G>T)
c.818-1G>T (n.818-1G>T)
c.1072-1G>T
c.314-1G>T (n.314-1G>T)
c.695-1G>T (n.695-1G>T)
c.437-1G>T (n.437-1G>T)
n.333-1G>T
c.418-1G>T
n.968-1G>T
n.935-1G>T
19g.11107391_11107399delinsGTGACACTCCA2322768561LDLRc.1076-1_1083delinsGTGACACTC
c.818-1_825delinsGTGACACTC
c.1072-1_1079delinsGTGACACTC
c.314-1_321delinsGTGACACTC
c.695-1_702delinsGTGACACTC
c.437-1_444delinsGTGACACTC
n.333-1_340delinsGTGACACTC
c.418-1_425delinsGTGACACTC
n.968-1_975delinsGTGACACTC
n.935-1_942delinsGTGACACTC
19g.11107392T>ACA404080473LDLRc.1076T>A (p.Val359Glu)
c.818T>A (p.Val273Glu)
c.1072T>A
c.314T>A (p.Leu105Gln)
c.695T>A (p.Val232Glu)
c.437T>A (p.Val146Glu)
n.333T>A
c.418T>A
n.968T>A
n.935T>A
19g.11107392T>CCA404080470LDLRc.1076T>C (p.Val359Ala)
c.818T>C (p.Val273Ala)
c.1072T>C
c.314T>C (p.Leu105Pro)
c.695T>C (p.Val232Ala)
c.437T>C (p.Val146Ala)
n.333T>C
c.418T>C
n.968T>C
n.935T>C
19g.11107392T>GCA305298508LDLRc.1076T>G (p.Val359Gly)
c.818T>G (p.Val273Gly)
c.1072T>G
c.314T>G (p.Leu105Arg)
c.695T>G (p.Val232Gly)
c.437T>G (p.Val146Gly)
n.333T>G
c.418T>G
n.968T>G
n.935T>G
 dbSNP
19g.11107392T=CA2322768562LDLRc.1076T= (p.Val359=)
c.818T= (p.Val273=)
c.1072T=
c.314T= (p.Leu105=)
c.695T= (p.Val232=)
c.437T= (p.Val146=)
n.333T=
c.418T=
n.968T=
n.935T=
19g.11107394_11107401delCA10585152LDLRc.1078_1085del (p.Thr360ArgfsTer24)
c.820_827del (p.Thr274ArgfsTer24)
c.1074_1081del
c.316_323del (p.Thr106ArgfsTer24)
c.697_704del (p.Thr233ArgfsTer24)
c.439_446del (p.Thr147ArgfsTer24)
n.335_342del
c.420_427del
n.970_977del
n.937_944del
 ClinVar dbSNP
19g.11107393G>ACA505485046LDLRc.1077G>A (p.Val359=)
c.819G>A (p.Val273=)
c.1073G>A
c.315G>A (p.Leu105=)
c.696G>A (p.Val232=)
c.438G>A (p.Val146=)
n.334G>A
c.419G>A
n.969G>A
n.936G>A
 ClinVar dbSNP
19g.11107393G>CCA505485047LDLRc.1077G>C (p.Val359=)
c.819G>C (p.Val273=)
c.1073G>C
c.315G>C (p.Leu105=)
c.696G>C (p.Val232=)
c.438G>C (p.Val146=)
n.334G>C
c.419G>C
n.969G>C
n.936G>C
19g.11107393G=CA2322768564LDLRc.1077G= (p.Val359=)
c.819G= (p.Val273=)
c.1073G=
c.315G= (p.Leu105=)
c.696G= (p.Val232=)
c.438G= (p.Val146=)
n.334G=
c.419G=
n.969G=
n.936G=
19g.11107393G>TCA505485048LDLRc.1077G>T (p.Val359=)
c.819G>T (p.Val273=)
c.1073G>T
c.315G>T (p.Leu105=)
c.696G>T (p.Val232=)
c.438G>T (p.Val146=)
n.334G>T
c.419G>T
n.969G>T
n.936G>T
19g.11107393_11107394delinsGACA2322768563LDLRc.1077_1078delinsGA (p.Val359=)
c.819_820delinsGA (p.Val273=)
c.1073_1074delinsGA
c.315_316delinsGA (p.Leu105=)
c.696_697delinsGA (p.Val232=)
c.438_439delinsGA (p.Val146=)
n.334_335delinsGA
c.419_420delinsGA
n.969_970delinsGA
n.936_937delinsGA
19g.11107394delCA029718LDLRc.1078del (p.Thr360HisfsTer?)
c.820del (p.Thr274HisfsTer?)
c.1074del
c.316del (p.Thr106HisfsTer?)
c.697del (p.Thr233HisfsTer?)
c.439del (p.Thr147HisfsTer?)
n.335del
c.420del
n.970del
n.937del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107394A=CA2322768565LDLRc.1078A= (p.Thr360=)
c.820A= (p.Thr274=)
c.1074A=
c.316A= (p.Thr106=)
c.697A= (p.Thr233=)
c.439A= (p.Thr147=)
n.335A=
c.420A=
n.970A=
n.937A=
19g.11107394A>CCA404080476LDLRc.1078A>C (p.Thr360Pro)
c.820A>C (p.Thr274Pro)
c.1074A>C
c.316A>C (p.Thr106Pro)
c.697A>C (p.Thr233Pro)
c.439A>C (p.Thr147Pro)
n.335A>C
c.420A>C
n.970A>C
n.937A>C
19g.11107394A>GCA404080478LDLRc.1078A>G (p.Thr360Ala)
c.820A>G (p.Thr274Ala)
c.1074A>G
c.316A>G (p.Thr106Ala)
c.697A>G (p.Thr233Ala)
c.439A>G (p.Thr147Ala)
n.335A>G
c.420A>G
n.970A>G
n.937A>G
19g.11107394A>TCA10585151LDLRc.1078A>T (p.Thr360Ser)
c.820A>T (p.Thr274Ser)
c.1074A>T
c.316A>T (p.Thr106Ser)
c.697A>T (p.Thr233Ser)
c.439A>T (p.Thr147Ser)
n.335A>T
c.420A>T
n.970A>T
n.937A>T
 ClinVar dbSNP
19g.11107395delCA404080487LDLRc.1079del (p.Thr360AsnfsTer?)
c.821del (p.Thr274AsnfsTer?)
c.1075del
c.317del (p.Thr106AsnfsTer?)
c.698del (p.Thr233AsnfsTer?)
c.440del (p.Thr147AsnfsTer?)
n.336del
c.421del
n.971del
n.938del
19g.11107395C>ACA029736LDLRc.1079C>A (p.Thr360Lys)
c.821C>A (p.Thr274Lys)
c.1075C>A
c.317C>A (p.Thr106Lys)
c.698C>A (p.Thr233Lys)
c.440C>A (p.Thr147Lys)
n.336C>A
c.421C>A
n.971C>A
n.938C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107395C=CA2322768566LDLRc.1079C= (p.Thr360=)
c.821C= (p.Thr274=)
c.1075C=
c.317C= (p.Thr106=)
c.698C= (p.Thr233=)
c.440C= (p.Thr147=)
n.336C=
c.421C=
n.971C=
n.938C=
19g.11107395C>GCA404080492LDLRc.1079C>G (p.Thr360Arg)
c.821C>G (p.Thr274Arg)
c.1075C>G
c.317C>G (p.Thr106Arg)
c.698C>G (p.Thr233Arg)
c.440C>G (p.Thr147Arg)
n.336C>G
c.421C>G
n.971C>G
n.938C>G
19g.11107395C>TCA404080490LDLRc.1079C>T (p.Thr360Ile)
c.821C>T (p.Thr274Ile)
c.1075C>T
c.317C>T (p.Thr106Ile)
c.698C>T (p.Thr233Ile)
c.440C>T (p.Thr147Ile)
n.336C>T
c.421C>T
n.971C>T
n.938C>T
19g.11107396A>CCA505485052LDLRc.1080A>C (p.Thr360=)
c.822A>C (p.Thr274=)
c.1076A>C
c.318A>C (p.Thr106=)
c.699A>C (p.Thr233=)
c.441A>C (p.Thr147=)
n.337A>C
c.422A>C
n.972A>C
n.939A>C
19g.11107396A>GCA505485053LDLRc.1080A>G (p.Thr360=)
c.822A>G (p.Thr274=)
c.1076A>G
c.318A>G (p.Thr106=)
c.699A>G (p.Thr233=)
c.441A>G (p.Thr147=)
n.337A>G
c.422A>G
n.972A>G
n.939A>G
19g.11107396A>TCA505485054LDLRc.1080A>T (p.Thr360=)
c.822A>T (p.Thr274=)
c.1076A>T
c.318A>T (p.Thr106=)
c.699A>T (p.Thr233=)
c.441A>T (p.Thr147=)
n.337A>T
c.422A>T
n.972A>T
n.939A>T
19g.11107396_11107398delinsACTCA2322768567LDLRc.1080_1082delinsACT (p.Thr360=)
c.822_824delinsACT (p.Thr274=)
c.1076_1078delinsACT
c.318_320delinsACT (p.Thr106=)
c.699_701delinsACT (p.Thr233=)
c.441_443delinsACT (p.Thr147=)
n.337_339delinsACT
c.422_424delinsACT
n.972_974delinsACT
n.939_941delinsACT
19g.11107397C>ACA404080496LDLRc.1081C>A (p.Leu361Ile)
c.823C>A (p.Leu275Ile)
c.1077C>A
c.319C>A (p.Leu107Ile)
c.700C>A (p.Leu234Ile)
c.442C>A (p.Leu148Ile)
n.338C>A
c.423C>A
n.973C>A
n.940C>A
19g.11107397C>GCA404080497LDLRc.1081C>G (p.Leu361Val)
c.823C>G (p.Leu275Val)
c.1077C>G
c.319C>G (p.Leu107Val)
c.700C>G (p.Leu234Val)
c.442C>G (p.Leu148Val)
n.338C>G
c.423C>G
n.973C>G
n.940C>G
 gnomAD v4
19g.11107397C>TCA404080500LDLRc.1081C>T (p.Leu361Phe)
c.823C>T (p.Leu275Phe)
c.1077C>T
c.319C>T (p.Leu107Phe)
c.700C>T (p.Leu234Phe)
c.442C>T (p.Leu148Phe)
n.338C>T
c.423C>T
n.973C>T
n.940C>T
19g.11107399_11107400delCA10585153LDLRc.1083_1084del (p.Cys362ArgfsTer24)
c.825_826del (p.Cys276ArgfsTer24)
c.1079_1080del
c.321_322del (p.Cys108ArgfsTer24)
c.702_703del (p.Cys235ArgfsTer24)
c.444_445del (p.Cys149ArgfsTer24)
n.340_341del
c.425_426del
n.975_976del
n.942_943del
 ClinVar dbSNP
19g.11107398T>ACA404080503LDLRc.1082T>A (p.Leu361His)
c.824T>A (p.Leu275His)
c.1078T>A
c.320T>A (p.Leu107His)
c.701T>A (p.Leu234His)
c.443T>A (p.Leu148His)
n.339T>A
c.424T>A
n.974T>A
n.941T>A
19g.11107398T>CCA404080506LDLRc.1082T>C (p.Leu361Pro)
c.824T>C (p.Leu275Pro)
c.1078T>C
c.320T>C (p.Leu107Pro)
c.701T>C (p.Leu234Pro)
c.443T>C (p.Leu148Pro)
n.339T>C
c.424T>C
n.974T>C
n.941T>C
19g.11107398T>GCA404080508LDLRc.1082T>G (p.Leu361Arg)
c.824T>G (p.Leu275Arg)
c.1078T>G
c.320T>G (p.Leu107Arg)
c.701T>G (p.Leu234Arg)
c.443T>G (p.Leu148Arg)
n.339T>G
c.424T>G
n.974T>G
n.941T>G
 gnomAD v4
19g.11107399C>ACA505485056LDLRc.1083C>A (p.Leu361=)
c.825C>A (p.Leu275=)
c.1079C>A
c.321C>A (p.Leu107=)
c.702C>A (p.Leu234=)
c.444C>A (p.Leu148=)
n.340C>A
c.425C>A
n.975C>A
n.942C>A
19g.11107399C>GCA505485057LDLRc.1083C>G (p.Leu361=)
c.825C>G (p.Leu275=)
c.1079C>G
c.321C>G (p.Leu107=)
c.702C>G (p.Leu234=)
c.444C>G (p.Leu148=)
n.340C>G
c.425C>G
n.975C>G
n.942C>G
 ClinVar
19g.11107399C>TCA505485058LDLRc.1083C>T (p.Leu361=)
c.825C>T (p.Leu275=)
c.1079C>T
c.321C>T (p.Leu107=)
c.702C>T (p.Leu234=)
c.444C>T (p.Leu148=)
n.340C>T
c.425C>T
n.975C>T
n.942C>T
19g.11107400T>ACA404080512LDLRc.1084T>A (p.Cys362Ser)
c.826T>A (p.Cys276Ser)
c.1080T>A
c.322T>A (p.Cys108Ser)
c.703T>A (p.Cys235Ser)
c.445T>A (p.Cys149Ser)
n.341T>A
c.426T>A
n.976T>A
n.943T>A
 gnomAD v4
19g.11107400T>CCA10585154LDLRc.1084T>C (p.Cys362Arg)
c.826T>C (p.Cys276Arg)
c.1080T>C
c.322T>C (p.Cys108Arg)
c.703T>C (p.Cys235Arg)
c.445T>C (p.Cys149Arg)
n.341T>C
c.426T>C
n.976T>C
n.943T>C
 ClinVar dbSNP
19g.11107400T>GCA10585155LDLRc.1084T>G (p.Cys362Gly)
c.826T>G (p.Cys276Gly)
c.1080T>G
c.322T>G (p.Cys108Gly)
c.703T>G (p.Cys235Gly)
c.445T>G (p.Cys149Gly)
n.341T>G
c.426T>G
n.976T>G
n.943T>G
 ClinVar dbSNP
19g.11107400T=CA2322768568LDLRc.1084T= (p.Cys362=)
c.826T= (p.Cys276=)
c.1080T=
c.322T= (p.Cys108=)
c.703T= (p.Cys235=)
c.445T= (p.Cys149=)
n.341T=
c.426T=
n.976T=
n.943T=
19g.11107401G>ACA029759LDLRc.1085G>A (p.Cys362Tyr)
c.827G>A (p.Cys276Tyr)
c.1081G>A
c.323G>A (p.Cys108Tyr)
c.704G>A (p.Cys235Tyr)
c.446G>A (p.Cys149Tyr)
n.342G>A
c.427G>A
n.977G>A
n.944G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107401G>CCA023771LDLRc.1085G>C (p.Cys362Ser)
c.827G>C (p.Cys276Ser)
c.1081G>C
c.323G>C (p.Cys108Ser)
c.704G>C (p.Cys235Ser)
c.446G>C (p.Cys149Ser)
n.342G>C
c.427G>C
n.977G>C
n.944G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107401G=CA2322768569LDLRc.1085G= (p.Cys362=)
c.827G= (p.Cys276=)
c.1081G=
c.323G= (p.Cys108=)
c.704G= (p.Cys235=)
c.446G= (p.Cys149=)
n.342G=
c.427G=
n.977G=
n.944G=
19g.11107401G>TCA404080519LDLRc.1085G>T (p.Cys362Phe)
c.827G>T (p.Cys276Phe)
c.1081G>T
c.323G>T (p.Cys108Phe)
c.704G>T (p.Cys235Phe)
c.446G>T (p.Cys149Phe)
n.342G>T
c.427G>T
n.977G>T
n.944G>T
19g.11107402C>ACA023773LDLRc.1086C>A (p.Cys362Ter)
c.828C>A (p.Cys276Ter)
c.1082C>A
c.324C>A (p.Cys108Ter)
c.705C>A (p.Cys235Ter)
c.447C>A (p.Cys149Ter)
n.343C>A
c.428C>A
n.978C>A
n.945C>A
 ClinVar dbSNP
19g.11107402C=CA2322768570LDLRc.1086C= (p.Cys362=)
c.828C= (p.Cys276=)
c.1082C=
c.324C= (p.Cys108=)
c.705C= (p.Cys235=)
c.447C= (p.Cys149=)
n.343C=
c.428C=
n.978C=
n.945C=
19g.11107402C>GCA10585156LDLRc.1086C>G (p.Cys362Trp)
c.828C>G (p.Cys276Trp)
c.1082C>G
c.324C>G (p.Cys108Trp)
c.705C>G (p.Cys235Trp)
c.447C>G (p.Cys149Trp)
n.343C>G
c.428C>G
n.978C>G
n.945C>G
 ClinVar dbSNP gnomAD v4
19g.11107402C>TCA029790LDLRc.1086C>T (p.Cys362=)
c.828C>T (p.Cys276=)
c.1082C>T
c.324C>T (p.Cys108=)
c.705C>T (p.Cys235=)
c.447C>T (p.Cys149=)
n.343C>T
c.428C>T
n.978C>T
n.945C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched