Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100222_11107515del | CA658824387 | LDLR | c.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 |
19 | g.11102141_11108134del | CA2573050561 | LDLR | c.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 | |
19 | g.11102152_11108145del | CA10584784 | LDLR | c.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 |
19 | g.11102477_11108484del | CA2573050562 | LDLR | c.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 | |
19 | g.11102663_11107515del | CA658824388 | LDLR | c.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 |
19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
19 | g.11104109_11109216del | CA2573050567 | LDLR | c.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 | |
19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.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 | |
19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.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 | |
19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.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 | |
19 | g.11105352_11110660del | CA915941069 | LDLR | c.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 | |
19 | g.11106161_11107857del | CA2573050584 | LDLR | c.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 | |
19 | g.11106209_11108573del | CA10585092 | LDLR | c.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 |
19 | g.11106498_11114133del | CA404079331 | LDLR | c.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 |
19 | g.11106564_11107515del | CA658824389 | LDLR | c.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 |
19 | g.11106684_11107392del | CA645509269 | LDLR | c.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 |
19 | g.11107354C>G | CA2735608220 | LDLR | c.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 |
19 | g.11107355A= | CA2322768545 | LDLR | c.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= | |
19 | g.11107355A>G | CA993533853 | LDLR | c.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 |
19 | g.11107356C>G | CA2582473974 | LDLR | c.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 |
19 | g.11107356C>T | CA2582473975 | LDLR | c.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 |
19 | g.11107357C= | CA2322768546 | LDLR | c.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= | |
19 | g.11107357C>G | CA631764296 | LDLR | c.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 |
19 | g.11107357C>T | CA2582473976 | LDLR | c.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 |
19 | g.11107358T>G | CA2582473977 | LDLR | c.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 |
19 | g.11107360A= | CA2322768547 | LDLR | c.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= | |
19 | g.11107360A>G | CA305298506 | LDLR | c.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 |
19 | g.11107360A>T | CA2582473978 | LDLR | c.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 |
19 | g.11107362C>A | CA2322768549 | LDLR | c.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 |
19 | g.11107362C= | CA2322768548 | LDLR | c.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= | |
19 | g.11107362C>T | CA2582473979 | LDLR | c.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 |
19 | g.11107363T>C | CA2582473980 | LDLR | c.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 |
19 | g.11107363T>G | CA631764298 | LDLR | c.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 |
19 | g.11107363T= | CA2322768550 | LDLR | c.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= | |
19 | g.11107365C= | CA2322768551 | LDLR | c.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= | |
19 | g.11107365C>T | CA993533855 | LDLR | c.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 |
19 | g.11107366_11107369del | CA2582473981 | LDLR | c.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 |
19 | g.11107369C= | CA2322768552 | LDLR | c.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= | |
19 | g.11107369C>G | CA993533857 | LDLR | c.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 |
19 | g.11107369C>T | CA029663 | LDLR | c.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 |
19 | g.11107372C= | CA2322768554 | LDLR | c.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= | |
19 | g.11107372C>G | CA2322768553 | LDLR | c.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 |
19 | g.11107372C>T | CA993533860 | LDLR | c.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 |
19 | g.11107379_11107380dup | CA2582473982 | LDLR | c.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 |
19 | g.11107375C>A | CA2813590223 | LDLR | c.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 | |
19 | g.11107377C= | CA2322768555 | LDLR | c.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= | |
19 | g.11107377C>G | CA029652 | LDLR | c.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 |
19 | g.11107377C>T | CA2582473983 | LDLR | c.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 |
19 | g.11107378T>G | CA2582473984 | LDLR | c.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 |
19 | g.11107379C>T | CA2739276483 | LDLR | c.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 |
19 | g.11107385C>A | CA305298507 | LDLR | c.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 |
19 | g.11107385C= | CA2322768556 | LDLR | c.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= | |
19 | g.11107385C>G | CA2322768557 | LDLR | c.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 |
19 | g.11107385C>T | CA2582473985 | LDLR | c.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 |
19 | g.11107387C>A | CA2582473986 | LDLR | c.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 |
19 | g.11107387C>T | CA2580096282 | LDLR | c.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 |
19 | g.11107388A>G | CA2739276484 | LDLR | c.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 |
19 | g.11107389C= | CA2322768558 | LDLR | c.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= | |
19 | g.11107389C>G | CA10588894 | LDLR | c.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 |
19 | g.11107389C>T | CA631764305 | LDLR | c.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 | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107390A= | CA2322768559 | LDLR | c.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= | |
19 | g.11107390A>C | CA404080458 | LDLR | c.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 | |
19 | g.11107390A>G | CA10585149 | LDLR | c.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 |
19 | g.11107390A>T | CA404080462 | LDLR | c.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 | |
19 | g.11107391G>A | CA10585150 | LDLR | c.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 |
19 | g.11107391G>C | CA404080465 | LDLR | c.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 | |
19 | g.11107391G= | CA2322768560 | LDLR | c.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= | |
19 | g.11107391G>T | CA404080468 | LDLR | c.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 | |
19 | g.11107391_11107399delinsGTGACACTC | CA2322768561 | LDLR | c.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 | |
19 | g.11107392T>A | CA404080473 | LDLR | c.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 | |
19 | g.11107392T>C | CA404080470 | LDLR | c.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 | |
19 | g.11107392T>G | CA305298508 | LDLR | c.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 | ClinVar dbSNP |
19 | g.11107392T= | CA2322768562 | LDLR | c.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= | |
19 | g.11107394_11107401del | CA10585152 | LDLR | c.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 |
19 | g.11107393G>A | CA505485046 | LDLR | c.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 |
19 | g.11107393G>C | CA505485047 | LDLR | c.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 | |
19 | g.11107393G= | CA2322768564 | LDLR | c.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= | |
19 | g.11107393G>T | CA505485048 | LDLR | c.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 | |
19 | g.11107393_11107394delinsGA | CA2322768563 | LDLR | c.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 | |
19 | g.11107394del | CA029718 | LDLR | c.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 |
19 | g.11107394A= | CA2322768565 | LDLR | c.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= | |
19 | g.11107394A>C | CA404080476 | LDLR | c.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 | |
19 | g.11107394A>G | CA404080478 | LDLR | c.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 | |
19 | g.11107394A>T | CA10585151 | LDLR | c.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 |
19 | g.11107395del | CA404080487 | LDLR | c.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 | |
19 | g.11107395C>A | CA029736 | LDLR | c.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 |
19 | g.11107395C= | CA2322768566 | LDLR | c.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= | |
19 | g.11107395C>G | CA404080492 | LDLR | c.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 | |
19 | g.11107395C>T | CA404080490 | LDLR | c.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 | |
19 | g.11107396A>C | CA505485052 | LDLR | c.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 | |
19 | g.11107396A>G | CA505485053 | LDLR | c.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 | |
19 | g.11107396A>T | CA505485054 | LDLR | c.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 | |
19 | g.11107396_11107398delinsACT | CA2322768567 | LDLR | c.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 | |
19 | g.11107397C>A | CA404080496 | LDLR | c.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 | |
19 | g.11107397C>G | CA404080497 | LDLR | c.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 |
19 | g.11107397C>T | CA404080500 | LDLR | c.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 | |
19 | g.11107399_11107400del | CA10585153 | LDLR | c.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 |
19 | g.11107398T>A | CA404080503 | LDLR | c.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 | |
19 | g.11107398T>C | CA404080506 | LDLR | c.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 | |
19 | g.11107398T>G | CA404080508 | LDLR | c.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 |
19 | g.11107399C>A | CA505485056 | LDLR | c.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 | |
19 | g.11107399C>G | CA505485057 | LDLR | c.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 |
19 | g.11107399C>T | CA505485058 | LDLR | c.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 | |
19 | g.11107400T>A | CA404080512 | LDLR | c.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 |
19 | g.11107400T>C | CA10585154 | LDLR | c.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 |
19 | g.11107400T>G | CA10585155 | LDLR | c.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 |
19 | g.11107400T= | CA2322768568 | LDLR | c.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= | |
19 | g.11107401G>A | CA029759 | LDLR | c.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 |
19 | g.11107401G>C | CA023771 | LDLR | c.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 |
19 | g.11107401G= | CA2322768569 | LDLR | c.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= | |
19 | g.11107401G>T | CA404080519 | LDLR | c.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 | |
19 | g.11107402C>A | CA023773 | LDLR | c.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 |
19 | g.11107402C= | CA2322768570 | LDLR | c.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= | |
19 | g.11107402C>G | CA10585156 | LDLR | c.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 |
19 | g.11107402C>T | CA029790 | LDLR | c.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 |
19 | g.11107403G>A | CA023775 | LDLR | c.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 |
19 | g.[11107403G>A;11113359T>C] | CA645373253 | LDLR | c.[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] | |
19 | g.11107403G>C | CA404080523 | LDLR | c.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 | |
19 | g.11107403G= | CA2322768571 | LDLR | c.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= | |
19 | g.11107403G>T | CA404080521 | LDLR | c.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 |
19 | g.11107404A>C | CA404080526 | LDLR | c.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 | |
19 | g.11107404A>G | CA404080527 | LDLR | c.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 |
19 | g.11107404A>T | CA404080530 | LDLR | c.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 | |
19 | g.11107405G>A | CA505485059 | LDLR | c.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 |
19 | g.11107405G>C | CA029826 | LDLR | c.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 | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11107405G= | CA2322768572 | LDLR | c.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= | |
19 | g.11107405G>T | CA404080534 | LDLR | c.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 | |
19 | g.11107406G>A | CA404080538 | LDLR | c.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 | |
19 | g.11107406G>C | CA404080540 | LDLR | c.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 |
19 | g.11107406G= | CA2322768573 | LDLR | c.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= | |
19 | g.11107406G>T | CA404080543 | LDLR | c.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 |
19 | g.11107407G>A | CA404080545 | LDLR | c.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 | ClinVar |
19 | g.11107407G>C | CA404080548 | LDLR | c.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 | |
19 | g.11107407G>T | CA404080551 | LDLR | c.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 | |
19 | g.11107408A>C | CA505485060 | LDLR | c.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 | |
19 | g.11107408A>G | CA505485061 | LDLR | c.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 | |
19 | g.11107408A>T | CA505485062 | LDLR | c.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 | |
19 | g.11107409C>A | CA404080559 | LDLR | c.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 | |
19 | g.11107409C= | CA2322768574 | LDLR | c.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= | |
19 | g.11107409C>G | CA404080556 | LDLR | c.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 | |
19 | g.11107409C>T | CA404080554 | LDLR | c.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 |
19 | g.11107410C>A | CA305298509 | LDLR | c.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 |
19 | g.11107410C= | CA2322768575 | LDLR | c.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= | |
19 | g.11107410C>G | CA404080563 | LDLR | c.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 | ClinVar |
19 | g.11107410C>T | CA404080564 | LDLR | c.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 | |
19 | g.11107411C>A | CA505485063 | LDLR | c.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 | |
19 | g.11107411C= | CA2322768576 | LDLR | c.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= | |
19 | g.11107411C>G | CA505485064 | LDLR | c.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 |
19 | g.11107411C>T | CA505485065 | LDLR | c.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 | |
19 | g.11107412A>C | CA404080566 | LDLR | c.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 | |
19 | g.11107412A>G | CA404080569 | LDLR | c.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 | |
19 | g.11107412A>T | CA404080571 | LDLR | c.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 | |
19 | g.11107413_11107422dup | CA645509270 | LDLR | c.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 |
19 | g.11107413A>C | CA404080574 | LDLR | c.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 | |
19 | g.11107413A>G | CA404080576 | LDLR | c.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 | |
19 | g.11107413A>T | CA404080578 | LDLR | c.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 |
19 | g.11107414C>A | CA404080580 | LDLR | c.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 | |
19 | g.11107414C= | CA2322768577 | LDLR | c.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= | |
19 | g.11107414C>G | CA404080582 | LDLR | c.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 | |
19 | g.11107414C>T | CA505485066 | LDLR | c.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 |
19 | g.11107414_11107415insT | CA645509271 | LDLR | c.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 |
19 | g.11107415A>C | CA404080592 | LDLR | c.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 |
19 | g.11107415A>G | CA404080589 | LDLR | c.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 | |
19 | g.11107415A>T | CA404080586 | LDLR | c.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 | |
19 | g.11107416del | CA2695238669 | LDLR | c.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 | |
19 | g.11107416A>C | CA404080596 | LDLR | c.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 | |
19 | g.11107416A>G | CA404080599 | LDLR | c.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 | |
19 | g.11107416A>T | CA404080600 | LDLR | c.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 | |
19 | g.11107417G>A | CA029857 | LDLR | c.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 |
19 | g.11107417G>C | CA404080605 | LDLR | c.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 | |
19 | g.11107417G= | CA2322768578 | LDLR | c.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= | |
19 | g.11107417G>T | CA404080607 | LDLR | c.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 | |
19 | g.11107417_11107418insGGAC | CA1139666259 | LDLR | c.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 |
19 | g.11107418T>A | CA404080616 | LDLR | c.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 | |
19 | g.11107418T>C | CA404080610 | LDLR | c.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 |
19 | g.11107418T>G | CA404080613 | LDLR | c.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 |
19 | g.11107418T= | CA2322768579 | LDLR | c.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= | |
19 | g.11107418_11107426delinsGGACTTCAAG | CA2837994633 | LDLR | c.1102_1110delinsGGACTTCAAG (p.Phe368GlyfsTer19) c.844_852delinsGGACTTCAAG (p.Phe282GlyfsTer19) c.1098_1106delinsGGACTTCAAG c.340_348delinsGGACTTCAAG (p.Phe114GlyfsTer19) c.721_729delinsGGACTTCAAG (p.Phe241GlyfsTer19) c.463_471delinsGGACTTCAAG (p.Phe155GlyfsTer19) n.359_367delinsGGACTTCAAG c.444_452delinsGGACTTCAAG n.994_1002delinsGGACTTCAAG n.961_969delinsGGACTTCAAG | |
19 | g.11107419T>A | CA404080620 | LDLR | c.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 |
19 | g.11107419T>C | CA404080622 | LDLR | c.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 |
19 | g.11107419T>G | CA404080624 | LDLR | c.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 |
19 | g.11107419T= | CA2322768580 | LDLR | c.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= | |
19 | g.11107420C>A | CA023778 | LDLR | c.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 |
19 | g.11107420C= | CA2322768581 | LDLR | c.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= | |
19 | g.11107420C>G | CA404080626 | LDLR | c.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 | |
19 | g.11107420C>T | CA505485068 | LDLR | c.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 | |
19 | g.11107421A= | CA2322768582 | LDLR | c.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= | |
19 | g.11107421A>C | CA404080629 | LDLR | c.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 | |
19 | g.11107421A>G | CA404080633 | LDLR | c.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 | |
19 | g.11107421A>T | CA404080631 | LDLR | c.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 |
19 | g.11107422A>C | CA404080636 | LDLR | c.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 |
19 | g.11107422A>G | CA404080643 | LDLR | c.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 | |
19 | g.11107422A>T | CA404080645 | LDLR | c.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 | |
19 | g.11107423G>A | CA505485069 | LDLR | c.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 | |
19 | g.11107423G>C | CA404080648 | LDLR | c.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 | |
19 | g.11107423G>T | CA404080649 | LDLR | c.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 | |
19 | g.11107423_11107426delinsGTGT | CA2322768583 | LDLR | c.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 | |
19 | g.11107424T>A | CA10585157 | LDLR | c.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 |
19 | g.11107424T>C | CA10585158 | LDLR | c.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 |
19 | g.11107424T>G | CA10585159 | LDLR | c.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 |
19 | g.11107424T= | CA2322768584 | LDLR | c.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= | |
19 | g.11107424_11107426del | CA1139666260 | LDLR | c.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 |
19 | g.11107425G>A | CA404080656 | LDLR | c.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 |
19 | g.11107425G>C | CA10585160 | LDLR | c.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 |
19 | g.11107425G= | CA2322768585 | LDLR | c.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= | |
19 | g.11107425G>T | CA404080659 | LDLR | c.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 |
19 | g.11107426T>A | CA404080663 | LDLR | c.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 |
19 | g.11107426T>C | CA505485070 | LDLR | c.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 |
19 | g.11107426T>G | CA404080662 | LDLR | c.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 | |
19 | g.11107426T= | CA2322768586 | LDLR | c.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= | |
19 | g.11107427C>A | CA404080667 | LDLR | c.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 | |
19 | g.11107427C= | CA2322768587 | LDLR | c.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= | |
19 | g.11107427C>G | CA404080670 | LDLR | c.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 | |
19 | g.11107427C>T | CA023780 | LDLR | c.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 |
19 | g.11107428A= | CA2322768588 | LDLR | c.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= | |
19 | g.11107428A>C | CA404080672 | LDLR | c.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 | |
19 | g.11107428A>G | CA404080674 | LDLR | c.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 |
19 | g.11107428A>T | CA404080676 | LDLR | c.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 | |
19 | g.11107429C>A | CA10585161 | LDLR | c.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 |
19 | g.11107429C= | CA2322768589 | LDLR | c.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= | |
19 | g.11107429C>G | CA404080680 | LDLR | c.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 | |
19 | g.11107429C>T | CA505485071 | LDLR | c.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 |
19 | g.11107430A= | CA2322768590 | LDLR | c.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= | |
19 | g.11107430A>C | CA404080682 | LDLR | c.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 | |
19 | g.11107430A>G | CA404080689 | LDLR | c.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 |
19 | g.11107430A>T | CA404080691 | LDLR | c.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 | |
19 | g.11107431G>A | CA404080693 | LDLR | c.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 | |
19 | g.11107431G>C | CA404080695 | LDLR | c.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 | |
19 | g.11107431G>T | CA404080696 | LDLR | c.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 | |
19 | g.11107431dup | CA2840305535 | LDLR | c.1115dup (p.Ser372ArgfsTer15) c.857dup (p.Ser286ArgfsTer15) c.1111dup c.353dup (p.Ser118ArgfsTer15) c.734dup (p.Ser245ArgfsTer15) c.476dup (p.Ser159ArgfsTer15) n.372dup c.457dup n.1007dup n.974dup | |
19 | g.11107432C>A | CA029904 | LDLR | c.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 |
19 | g.11107432C= | CA2322768591 | LDLR | c.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= | |
19 | g.11107432C>G | CA404080699 | LDLR | c.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 | |
19 | g.11107432C>T | CA029921 | LDLR | c.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 |
19 | g.11107432_11107433delinsCG | CA2322768592 | LDLR | c.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 | |
19 | g.11107433G>A | CA023782 | LDLR | c.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 |
19 | g.11107433G>C | CA404080727 | LDLR | c.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 | |
19 | g.11107433G= | CA2322768593 | LDLR | c.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= | |
19 | g.11107433G>T | CA10585162 | LDLR | c.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 |
19 | g.11107434del | CA645373254 | LDLR | c.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 |
19 | g.11107434G>A | CA404080735 | LDLR | c.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 | |
19 | g.11107434G>C | CA404080741 | LDLR | c.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 | |
19 | g.11107434G>T | CA404080743 | LDLR | c.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 | |
19 | g.11107435C>A | CA505485072 | LDLR | c.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 | |
19 | g.11107435C= | CA2322768594 | LDLR | c.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= | |
19 | g.11107435C>G | CA505485073 | LDLR | c.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 | |
19 | g.11107435C>T | CA029955 | LDLR | c.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 |
19 | g.11107436G>A | CA023783 | LDLR | c.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 |
19 | g.11107436G>C | CA404080752 | LDLR | c.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 | |
19 | g.11107436G= | CA2322768595 | LDLR | c.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= | |
19 | g.11107436G>T | CA10585163 | LDLR | c.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 |
19 | g.11107437A>C | CA404080759 | LDLR | c.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 | |
19 | g.11107437A>G | CA404080762 | LDLR | c.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 | |
19 | g.11107437A>T | CA404080766 | LDLR | c.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 | |
19 | g.11107438A>C | CA404080769 | LDLR | c.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 | |
19 | g.11107438A>G | CA505485074 | LDLR | c.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 | |
19 | g.11107438A>T | CA404080767 | LDLR | c.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 | |
19 | g.11107438_11107439delinsAT | CA2322768596 | LDLR | c.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 | |
19 | g.11107439del | CA10585165 | LDLR | c.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 |
19 | g.11107439T>A | CA404080775 | LDLR | c.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 | |
19 | g.11107439T>C | CA10585164 | LDLR | c.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 |
19 | g.11107439T>G | CA404080780 | LDLR | c.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 |
19 | g.11107439T= | CA2322768597 | LDLR | c.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= | |
19 | g.11107440G>A | CA404080788 | LDLR | c.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 |
19 | g.11107440G>C | CA404080791 | LDLR | c.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 |
19 | g.11107440G= | CA2322768598 | LDLR | c.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= | |
19 | g.11107440G>T | CA404080793 | LDLR | c.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 | |
19 | g.11107441C>A | CA404080801 | LDLR | c.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 |
19 | g.11107441C>G | CA404080804 | LDLR | c.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 | |
19 | g.11107441C>T | CA505485075 | LDLR | c.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 |
19 | g.11107443_11107445dup | CA10585167 | LDLR | c.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 |
19 | g.11107442A>C | CA404080808 | LDLR | c.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 | |
19 | g.11107442A>G | CA404080813 | LDLR | c.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 | |
19 | g.11107442A>T | CA404080816 | LDLR | c.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 | |
19 | g.11107443T>A | CA404080819 | LDLR | c.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 | |
19 | g.11107443T>C | CA404080822 | LDLR | c.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 | |
19 | g.11107443T>G | CA10585166 | LDLR | c.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 |
19 | g.11107443T= | CA2322768599 | LDLR | c.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= | |
19 | g.11107444C>A | CA505485077 | LDLR | c.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 | |
19 | g.11107444C>G | CA404080827 | LDLR | c.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 | |
19 | g.11107444C>T | CA505485076 | LDLR | c.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 | |
19 | g.11107445A= | CA2322768600 | LDLR | c.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= | |
19 | g.11107445A>C | CA029979 | LDLR | c.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 |
19 | g.11107445A>G | CA404080832 | LDLR | c.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 | |
19 | g.11107445A>T | CA404080829 | LDLR | c.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 | |
19 | g.11107445_11107446delinsAC | CA2322768601 | LDLR | c.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 | |
19 | g.11107446C>A | CA404080840 | LDLR | c.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 | |
19 | g.11107446C>G | CA404080844 | LDLR | c.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 | |
19 | g.11107446C>T | CA404080847 | LDLR | c.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 | |
19 | g.11107448del | CA10585168 | LDLR | c.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 |
19 | g.11107447C>A | CA505485078 | LDLR | c.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 |
19 | g.11107447C>G | CA505485079 | LDLR | c.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 | |
19 | g.11107447C>T | CA505485080 | LDLR | c.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 |
19 | g.11107448C>A | CA404080852 | LDLR | c.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 | |
19 | g.11107448C= | CA2322768602 | LDLR | c.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= | |
19 | g.11107448C>G | CA404080856 | LDLR | c.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 | |
19 | g.11107448C>T | CA029996 | LDLR | c.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 |
19 | g.11107449T>A | CA404080868 | LDLR | c.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 |
19 | g.11107449T>C | CA404080872 | LDLR | c.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 | |
19 | g.11107449T>G | CA404080875 | LDLR | c.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 | |
19 | g.11107449dup | CA10585169 | LDLR | c.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 |
19 | g.11107449_11107450delinsTG | CA2322768603 | LDLR | c.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 | |
19 | g.11107450G>A | CA505485083 | LDLR | c.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 |
19 | g.11107450G>C | CA505485082 | LDLR | c.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 | |
19 | g.11107450G>T | CA505485081 | LDLR | c.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 |
19 | g.11107451dup | CA2695228119 | LDLR | c.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 | |
19 | g.11107451del | CA10585170 | LDLR | c.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 |
19 | g.11107451G>A | CA404080883 | LDLR | c.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 | |
19 | g.11107451G>C | CA404080886 | LDLR | c.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 | |
19 | g.11107451G>T | CA404080889 | LDLR | c.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 | |
19 | g.11107452A>C | CA404080895 | LDLR | c.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 | |
19 | g.11107452A>G | CA404080893 | LDLR | c.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 | |
19 | g.11107452A>T | CA404080898 | LDLR | c.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 | |
19 | g.11107453C>A | CA404080901 | LDLR | c.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 | |
19 | g.11107453C>G | CA404080903 | LDLR | c.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 | |
19 | g.11107453C>T | CA505485084 | LDLR | c.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 | |
19 | g.11107453_11107455delinsCAA | CA2322768604 | LDLR | c.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 | |
19 | g.11107454A= | CA2322768605 | LDLR | c.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= | |
19 | g.11107454A>C | CA404080906 | LDLR | c.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 | |
19 | g.11107454A>G | CA10585171 | LDLR | c.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 |
19 | g.11107454A>T | CA404080909 | LDLR | c.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 | |
19 | g.11107455_11107456del | CA10585172 | LDLR | c.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 |