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.11107330G>A | CA2322768532 | LDLR | c.1076-62G>A (n.1076-62G>A) c.818-62G>A (n.818-62G>A) c.1072-62G>A c.314-62G>A (n.314-62G>A) c.695-62G>A (n.695-62G>A) c.437-62G>A (n.437-62G>A) n.333-62G>A c.418-62G>A n.968-62G>A n.935-62G>A | dbSNP |
19 | g.11107330G= | CA2322768531 | LDLR | c.1076-62G= (n.1076-62G=) c.818-62G= (n.818-62G=) c.1072-62G= c.314-62G= (n.314-62G=) c.695-62G= (n.695-62G=) c.437-62G= (n.437-62G=) n.333-62G= c.418-62G= n.968-62G= n.935-62G= | |
19 | g.11107330dup | CA2840305533 | LDLR | c.1076-62dup (n.1076-62dup) c.818-62dup (n.818-62dup) c.1072-62dup c.314-62dup (n.314-62dup) c.695-62dup (n.695-62dup) c.437-62dup (n.437-62dup) n.333-62dup c.418-62dup n.968-62dup n.935-62dup | |
19 | g.11107331C>A | CA2582473963 | LDLR | c.1076-61C>A (n.1076-61C>A) c.818-61C>A (n.818-61C>A) c.1072-61C>A c.314-61C>A (n.314-61C>A) c.695-61C>A (n.695-61C>A) c.437-61C>A (n.437-61C>A) n.333-61C>A c.418-61C>A n.968-61C>A n.935-61C>A | gnomAD v4 |
19 | g.11107331C>T | CA2582473964 | LDLR | c.1076-61C>T (n.1076-61C>T) c.818-61C>T (n.818-61C>T) c.1072-61C>T c.314-61C>T (n.314-61C>T) c.695-61C>T (n.695-61C>T) c.437-61C>T (n.437-61C>T) n.333-61C>T c.418-61C>T n.968-61C>T n.935-61C>T | gnomAD v4 |
19 | g.11107332C>A | CA2582473965 | LDLR | c.1076-60C>A (n.1076-60C>A) c.818-60C>A (n.818-60C>A) c.1072-60C>A c.314-60C>A (n.314-60C>A) c.695-60C>A (n.695-60C>A) c.437-60C>A (n.437-60C>A) n.333-60C>A c.418-60C>A n.968-60C>A n.935-60C>A | gnomAD v4 |
19 | g.11107333A= | CA2322768534 | LDLR | c.1076-59A= (n.1076-59A=) c.818-59A= (n.818-59A=) c.1072-59A= c.314-59A= (n.314-59A=) c.695-59A= (n.695-59A=) c.437-59A= (n.437-59A=) n.333-59A= c.418-59A= n.968-59A= n.935-59A= | |
19 | g.11107333A>G | CA2322768533 | LDLR | c.1076-59A>G (n.1076-59A>G) c.818-59A>G (n.818-59A>G) c.1072-59A>G c.314-59A>G (n.314-59A>G) c.695-59A>G (n.695-59A>G) c.437-59A>G (n.437-59A>G) n.333-59A>G c.418-59A>G n.968-59A>G n.935-59A>G | dbSNP |
19 | g.11107334A= | CA2322768535 | LDLR | c.1076-58A= (n.1076-58A=) c.818-58A= (n.818-58A=) c.1072-58A= c.314-58A= (n.314-58A=) c.695-58A= (n.695-58A=) c.437-58A= (n.437-58A=) n.333-58A= c.418-58A= n.968-58A= n.935-58A= | |
19 | g.11107334A>C | CA2322768536 | LDLR | c.1076-58A>C (n.1076-58A>C) c.818-58A>C (n.818-58A>C) c.1072-58A>C c.314-58A>C (n.314-58A>C) c.695-58A>C (n.695-58A>C) c.437-58A>C (n.437-58A>C) n.333-58A>C c.418-58A>C n.968-58A>C n.935-58A>C | dbSNP |
19 | g.11107335G>A | CA2582473966 | LDLR | c.1076-57G>A (n.1076-57G>A) c.818-57G>A (n.818-57G>A) c.1072-57G>A c.314-57G>A (n.314-57G>A) c.695-57G>A (n.695-57G>A) c.437-57G>A (n.437-57G>A) n.333-57G>A c.418-57G>A n.968-57G>A n.935-57G>A | gnomAD v4 |
19 | g.11107336C>A | CA2322768538 | LDLR | c.1076-56C>A (n.1076-56C>A) c.818-56C>A (n.818-56C>A) c.1072-56C>A c.314-56C>A (n.314-56C>A) c.695-56C>A (n.695-56C>A) c.437-56C>A (n.437-56C>A) n.333-56C>A c.418-56C>A n.968-56C>A n.935-56C>A | dbSNP gnomAD v4 |
19 | g.11107336C= | CA2322768537 | LDLR | c.1076-56C= (n.1076-56C=) c.818-56C= (n.818-56C=) c.1072-56C= c.314-56C= (n.314-56C=) c.695-56C= (n.695-56C=) c.437-56C= (n.437-56C=) n.333-56C= c.418-56C= n.968-56C= n.935-56C= | |
19 | g.11107336C>T | CA2582473967 | LDLR | c.1076-56C>T (n.1076-56C>T) c.818-56C>T (n.818-56C>T) c.1072-56C>T c.314-56C>T (n.314-56C>T) c.695-56C>T (n.695-56C>T) c.437-56C>T (n.437-56C>T) n.333-56C>T c.418-56C>T n.968-56C>T n.935-56C>T | gnomAD v4 |
19 | g.11107340C>G | CA2582473968 | LDLR | c.1076-52C>G (n.1076-52C>G) c.818-52C>G (n.818-52C>G) c.1072-52C>G c.314-52C>G (n.314-52C>G) c.695-52C>G (n.695-52C>G) c.437-52C>G (n.437-52C>G) n.333-52C>G c.418-52C>G n.968-52C>G n.935-52C>G | gnomAD v4 |
19 | g.11107341T>A | CA029703 | LDLR | c.1076-51T>A (n.1076-51T>A) c.818-51T>A (n.818-51T>A) c.1072-51T>A c.314-51T>A (n.314-51T>A) c.695-51T>A (n.695-51T>A) c.437-51T>A (n.437-51T>A) n.333-51T>A c.418-51T>A n.968-51T>A n.935-51T>A | dbSNP ExAC gnomAD v2 |
19 | g.11107341T= | CA2322768539 | LDLR | c.1076-51T= (n.1076-51T=) c.818-51T= (n.818-51T=) c.1072-51T= c.314-51T= (n.314-51T=) c.695-51T= (n.695-51T=) c.437-51T= (n.437-51T=) n.333-51T= c.418-51T= n.968-51T= n.935-51T= | |
19 | g.11107342G>A | CA631764292 | LDLR | c.1076-50G>A (n.1076-50G>A) c.818-50G>A (n.818-50G>A) c.1072-50G>A c.314-50G>A (n.314-50G>A) c.695-50G>A (n.695-50G>A) c.437-50G>A (n.437-50G>A) n.333-50G>A c.418-50G>A n.968-50G>A n.935-50G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11107342G= | CA2322768540 | LDLR | c.1076-50G= (n.1076-50G=) c.818-50G= (n.818-50G=) c.1072-50G= c.314-50G= (n.314-50G=) c.695-50G= (n.695-50G=) c.437-50G= (n.437-50G=) n.333-50G= c.418-50G= n.968-50G= n.935-50G= | |
19 | g.11107343A>G | CA2582473969 | LDLR | c.1076-49A>G (n.1076-49A>G) c.818-49A>G (n.818-49A>G) c.1072-49A>G c.314-49A>G (n.314-49A>G) c.695-49A>G (n.695-49A>G) c.437-49A>G (n.437-49A>G) n.333-49A>G c.418-49A>G n.968-49A>G n.935-49A>G | gnomAD v4 |
19 | g.11107344G>T | CA2582473970 | LDLR | c.1076-48G>T (n.1076-48G>T) c.818-48G>T (n.818-48G>T) c.1072-48G>T c.314-48G>T (n.314-48G>T) c.695-48G>T (n.695-48G>T) c.437-48G>T (n.437-48G>T) n.333-48G>T c.418-48G>T n.968-48G>T n.935-48G>T | gnomAD v4 |
19 | g.11107345G>A | CA029680 | LDLR | c.1076-47G>A (n.1076-47G>A) c.818-47G>A (n.818-47G>A) c.1072-47G>A c.314-47G>A (n.314-47G>A) c.695-47G>A (n.695-47G>A) c.437-47G>A (n.437-47G>A) n.333-47G>A c.418-47G>A n.968-47G>A n.935-47G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11107345G= | CA2322768541 | LDLR | c.1076-47G= (n.1076-47G=) c.818-47G= (n.818-47G=) c.1072-47G= c.314-47G= (n.314-47G=) c.695-47G= (n.695-47G=) c.437-47G= (n.437-47G=) n.333-47G= c.418-47G= n.968-47G= n.935-47G= | |
19 | g.11107346C>T | CA2564408481 | LDLR | c.1076-46C>T (n.1076-46C>T) c.818-46C>T (n.818-46C>T) c.1072-46C>T c.314-46C>T (n.314-46C>T) c.695-46C>T (n.695-46C>T) c.437-46C>T (n.437-46C>T) n.333-46C>T c.418-46C>T n.968-46C>T n.935-46C>T | gnomAD v4 |
19 | g.11107347dup | CA2838209180 | LDLR | c.1076-45dup (n.1076-45dup) c.818-45dup (n.818-45dup) c.1072-45dup c.314-45dup (n.314-45dup) c.695-45dup (n.695-45dup) c.437-45dup (n.437-45dup) n.333-45dup c.418-45dup n.968-45dup n.935-45dup | |
19 | g.11107348C>T | CA2840305534 | LDLR | c.1076-44C>T (n.1076-44C>T) c.818-44C>T (n.818-44C>T) c.1072-44C>T c.314-44C>T (n.314-44C>T) c.695-44C>T (n.695-44C>T) c.437-44C>T (n.437-44C>T) n.333-44C>T c.418-44C>T n.968-44C>T n.935-44C>T | |
19 | g.11107350del | CA2582473971 | LDLR | c.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 |
19 | g.11107350G= | CA2322768542 | LDLR | c.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= | |
19 | g.11107350G>T | CA2322768543 | LDLR | c.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 |
19 | g.11107351A= | CA2322768544 | LDLR | c.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= | |
19 | g.11107351A>G | CA783244366 | LDLR | c.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 |
19 | g.11107352C>T | CA2582473972 | LDLR | c.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 |
19 | g.11107353A>C | CA2582473973 | LDLR | c.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 |
19 | g.11107353A>T | CA2813590222 | LDLR | c.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 | |
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 |