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.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | 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.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
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.11106438_11107211delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG | CA2322768086 | LDLR | c.953-127_1076-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG c.695-127_818-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG c.949-127_1072-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG c.314-954_314-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG (n.314-954_314-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG) c.572-127_695-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG c.314-127_437-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG n.83_333-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG c.295-127_418-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG n.845-127_968-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG n.812-127_935-181delinsTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTG | |
19 | g.11106469_11107241del | CA250468 | LDLR | c.953-96_1076-151del c.695-96_818-151del c.949-96_1072-151del c.314-923_314-151del (n.314-923_314-151del) c.572-96_695-151del c.314-96_437-151del n.114_333-151del c.295-96_418-151del n.845-96_968-151del n.812-96_935-151del | dbSNP |
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.11106574_11106660del | CA2695228112 | LDLR | c.962_1048del (p.Thr321_Asp349del) c.704_790del (p.Thr235_Asp263del) c.958_1044del c.314-818_314-732del (n.314-818_314-732del) c.581_667del (p.Thr194_Asp222del) c.323_409del (p.Thr108_Asp136del) n.219_305del c.304_390del n.854_940del n.821_907del | |
19 | g.11106574_11106661delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT | CA2322768146 | LDLR | c.962_1049delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr321=) c.704_791delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr235=) c.958_1045delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT c.314-818_314-731delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (n.314-818_314-731delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT) c.581_668delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr194=) c.323_410delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT (p.Thr108=) n.219_306delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT c.304_391delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT n.854_941delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT n.821_908delinsCCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACAT | |
19 | g.11106575_11106661del | CA10585098 | LDLR | c.963_1049del (p.Cys322_Met350del) c.705_791del (p.Cys236_Met264del) c.959_1045del c.314-817_314-731del (n.314-817_314-731del) c.582_668del (p.Cys195_Met223del) c.324_410del (p.Cys109_Met137del) n.220_306del c.305_391del n.855_941del n.822_908del | ClinVar dbSNP |
19 | g.11106579C>A | CA404079450 | LDLR | c.967C>A (p.Arg323Ser) c.709C>A (p.Arg237Ser) c.963C>A c.314-813C>A (n.314-813C>A) c.586C>A (p.Arg196Ser) c.328C>A (p.Arg110Ser) n.224C>A c.309C>A n.859C>A n.826C>A | |
19 | g.11106579C= | CA2322768149 | LDLR | c.967C= (p.Arg323=) c.709C= (p.Arg237=) c.963C= c.314-813C= (n.314-813C=) c.586C= (p.Arg196=) c.328C= (p.Arg110=) n.224C= c.309C= n.859C= n.826C= | |
19 | g.11106579C>G | CA404079452 | LDLR | c.967C>G (p.Arg323Gly) c.709C>G (p.Arg237Gly) c.963C>G c.314-813C>G (n.314-813C>G) c.586C>G (p.Arg196Gly) c.328C>G (p.Arg110Gly) n.224C>G c.309C>G n.859C>G n.826C>G | |
19 | g.11106579C>T | CA10585102 | LDLR | c.967C>T (p.Arg323Cys) c.709C>T (p.Arg237Cys) c.963C>T c.314-813C>T (n.314-813C>T) c.586C>T (p.Arg196Cys) c.328C>T (p.Arg110Cys) n.224C>T c.309C>T n.859C>T n.826C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11106580G>A | CA044568 | LDLR | c.968G>A (p.Arg323His) c.710G>A (p.Arg237His) c.964G>A c.314-812G>A (n.314-812G>A) c.587G>A (p.Arg196His) c.329G>A (p.Arg110His) n.225G>A c.310G>A n.860G>A n.827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106580G>C | CA404079459 | LDLR | c.968G>C (p.Arg323Pro) c.710G>C (p.Arg237Pro) c.964G>C c.314-812G>C (n.314-812G>C) c.587G>C (p.Arg196Pro) c.329G>C (p.Arg110Pro) n.225G>C c.310G>C n.860G>C n.827G>C | gnomAD v4 |
19 | g.11106580G= | CA2322768150 | LDLR | c.968G= (p.Arg323=) c.710G= (p.Arg237=) c.964G= c.314-812G= (n.314-812G=) c.587G= (p.Arg196=) c.329G= (p.Arg110=) n.225G= c.310G= n.860G= n.827G= | |
19 | g.11106580G>T | CA404079462 | LDLR | c.968G>T (p.Arg323Leu) c.710G>T (p.Arg237Leu) c.964G>T c.314-812G>T (n.314-812G>T) c.587G>T (p.Arg196Leu) c.329G>T (p.Arg110Leu) n.225G>T c.310G>T n.860G>T n.827G>T | |
19 | g.11106581C>A | CA505484886 | LDLR | c.969C>A (p.Arg323=) c.711C>A (p.Arg237=) c.965C>A c.314-811C>A (n.314-811C>A) c.588C>A (p.Arg196=) c.330C>A (p.Arg110=) n.226C>A c.311C>A n.861C>A n.828C>A | ClinVar |
19 | g.11106581C= | CA2322768151 | LDLR | c.969C= (p.Arg323=) c.711C= (p.Arg237=) c.965C= c.314-811C= (n.314-811C=) c.588C= (p.Arg196=) c.330C= (p.Arg110=) n.226C= c.311C= n.861C= n.828C= | |
19 | g.11106581C>G | CA505484887 | LDLR | c.969C>G (p.Arg323=) c.711C>G (p.Arg237=) c.965C>G c.314-811C>G (n.314-811C>G) c.588C>G (p.Arg196=) c.330C>G (p.Arg110=) n.226C>G c.311C>G n.861C>G n.828C>G | |
19 | g.11106581C>T | CA044586 | LDLR | c.969C>T (p.Arg323=) c.711C>T (p.Arg237=) c.965C>T c.314-811C>T (n.314-811C>T) c.588C>T (p.Arg196=) c.330C>T (p.Arg110=) n.226C>T c.311C>T n.861C>T n.828C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106583del | CA2497030130 | LDLR | c.971del (p.Pro324LeufsTer27) c.713del (p.Pro238LeufsTer27) c.967del c.314-809del (n.314-809del) c.590del (p.Pro197LeufsTer27) c.332del (p.Pro111LeufsTer27) n.228del c.313del n.863del n.830del | |
19 | g.11106582C>A | CA404079469 | LDLR | c.970C>A (p.Pro324Thr) c.712C>A (p.Pro238Thr) c.966C>A c.314-810C>A (n.314-810C>A) c.589C>A (p.Pro197Thr) c.331C>A (p.Pro111Thr) n.227C>A c.312C>A n.862C>A n.829C>A | gnomAD v4 |
19 | g.11106582C= | CA2322768152 | LDLR | c.970C= (p.Pro324=) c.712C= (p.Pro238=) c.966C= c.314-810C= (n.314-810C=) c.589C= (p.Pro197=) c.331C= (p.Pro111=) n.227C= c.312C= n.862C= n.829C= | |
19 | g.11106582C>G | CA404079472 | LDLR | c.970C>G (p.Pro324Ala) c.712C>G (p.Pro238Ala) c.966C>G c.314-810C>G (n.314-810C>G) c.589C>G (p.Pro197Ala) c.331C>G (p.Pro111Ala) n.227C>G c.312C>G n.862C>G n.829C>G | ClinVar dbSNP |
19 | g.11106582C>T | CA044601 | LDLR | c.970C>T (p.Pro324Ser) c.712C>T (p.Pro238Ser) c.966C>T c.314-810C>T (n.314-810C>T) c.589C>T (p.Pro197Ser) c.331C>T (p.Pro111Ser) n.227C>T c.312C>T n.862C>T n.829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106583C>A | CA404079478 | LDLR | c.971C>A (p.Pro324His) c.713C>A (p.Pro238His) c.967C>A c.314-809C>A (n.314-809C>A) c.590C>A (p.Pro197His) c.332C>A (p.Pro111His) n.228C>A c.313C>A n.863C>A n.830C>A | |
19 | g.11106583C>G | CA404079481 | LDLR | c.971C>G (p.Pro324Arg) c.713C>G (p.Pro238Arg) c.967C>G c.314-809C>G (n.314-809C>G) c.590C>G (p.Pro197Arg) c.332C>G (p.Pro111Arg) n.228C>G c.313C>G n.863C>G n.830C>G | |
19 | g.11106583C>T | CA404079484 | LDLR | c.971C>T (p.Pro324Leu) c.713C>T (p.Pro238Leu) c.967C>T c.314-809C>T (n.314-809C>T) c.590C>T (p.Pro197Leu) c.332C>T (p.Pro111Leu) n.228C>T c.313C>T n.863C>T n.830C>T | gnomAD v4 |
19 | g.11106584T>A | CA505484890 | LDLR | c.972T>A (p.Pro324=) c.714T>A (p.Pro238=) c.968T>A c.314-808T>A (n.314-808T>A) c.591T>A (p.Pro197=) c.333T>A (p.Pro111=) n.229T>A c.314T>A n.864T>A n.831T>A | |
19 | g.11106584T>C | CA505484889 | LDLR | c.972T>C (p.Pro324=) c.714T>C (p.Pro238=) c.968T>C c.314-808T>C (n.314-808T>C) c.591T>C (p.Pro197=) c.333T>C (p.Pro111=) n.229T>C c.314T>C n.864T>C n.831T>C | |
19 | g.11106584T>G | CA505484888 | LDLR | c.972T>G (p.Pro324=) c.714T>G (p.Pro238=) c.968T>G c.314-808T>G (n.314-808T>G) c.591T>G (p.Pro197=) c.333T>G (p.Pro111=) n.229T>G c.314T>G n.864T>G n.831T>G | |
19 | g.11106585G>A | CA404079487 | LDLR | c.973G>A (p.Asp325Asn) c.715G>A (p.Asp239Asn) c.969G>A c.314-807G>A (n.314-807G>A) c.592G>A (p.Asp198Asn) c.334G>A (p.Asp112Asn) n.230G>A c.315G>A n.865G>A n.832G>A | ClinVar |
19 | g.11106585G>C | CA404079493 | LDLR | c.973G>C (p.Asp325His) c.715G>C (p.Asp239His) c.969G>C c.314-807G>C (n.314-807G>C) c.592G>C (p.Asp198His) c.334G>C (p.Asp112His) n.230G>C c.315G>C n.865G>C n.832G>C | |
19 | g.11106585G>T | CA404079496 | LDLR | c.973G>T (p.Asp325Tyr) c.715G>T (p.Asp239Tyr) c.969G>T c.314-807G>T (n.314-807G>T) c.592G>T (p.Asp198Tyr) c.334G>T (p.Asp112Tyr) n.230G>T c.315G>T n.865G>T n.832G>T | |
19 | g.11106586A>C | CA404079498 | LDLR | c.974A>C (p.Asp325Ala) c.716A>C (p.Asp239Ala) c.970A>C c.314-806A>C (n.314-806A>C) c.593A>C (p.Asp198Ala) c.335A>C (p.Asp112Ala) n.231A>C c.316A>C n.866A>C n.833A>C | |
19 | g.11106586A>G | CA404079501 | LDLR | c.974A>G (p.Asp325Gly) c.716A>G (p.Asp239Gly) c.970A>G c.314-806A>G (n.314-806A>G) c.593A>G (p.Asp198Gly) c.335A>G (p.Asp112Gly) n.231A>G c.316A>G n.866A>G n.833A>G | |
19 | g.11106586A>T | CA404079504 | LDLR | c.974A>T (p.Asp325Val) c.716A>T (p.Asp239Val) c.970A>T c.314-806A>T (n.314-806A>T) c.593A>T (p.Asp198Val) c.335A>T (p.Asp112Val) n.231A>T c.316A>T n.866A>T n.833A>T | |
19 | g.11106587C>A | CA404079516 | LDLR | c.975C>A (p.Asp325Glu) c.717C>A (p.Asp239Glu) c.971C>A c.314-805C>A (n.314-805C>A) c.594C>A (p.Asp198Glu) c.336C>A (p.Asp112Glu) n.232C>A c.317C>A n.867C>A n.834C>A | |
19 | g.11106587C= | CA2322768153 | LDLR | c.975C= (p.Asp325=) c.717C= (p.Asp239=) c.971C= c.314-805C= (n.314-805C=) c.594C= (p.Asp198=) c.336C= (p.Asp112=) n.232C= c.317C= n.867C= n.834C= | |
19 | g.11106587C>G | CA404079512 | LDLR | c.975C>G (p.Asp325Glu) c.717C>G (p.Asp239Glu) c.971C>G c.314-805C>G (n.314-805C>G) c.594C>G (p.Asp198Glu) c.336C>G (p.Asp112Glu) n.232C>G c.317C>G n.867C>G n.834C>G | |
19 | g.11106587C>T | CA505484891 | LDLR | c.975C>T (p.Asp325=) c.717C>T (p.Asp239=) c.971C>T c.314-805C>T (n.314-805C>T) c.594C>T (p.Asp198=) c.336C>T (p.Asp112=) n.232C>T c.317C>T n.867C>T n.834C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106588G>A | CA023755 | LDLR | c.976G>A (p.Glu326Lys) c.718G>A (p.Glu240Lys) c.972G>A c.314-804G>A (n.314-804G>A) c.595G>A (p.Glu199Lys) c.337G>A (p.Glu113Lys) n.233G>A c.318G>A n.868G>A n.835G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11106588G>C | CA404079521 | LDLR | c.976G>C (p.Glu326Gln) c.718G>C (p.Glu240Gln) c.972G>C c.314-804G>C (n.314-804G>C) c.595G>C (p.Glu199Gln) c.337G>C (p.Glu113Gln) n.233G>C c.318G>C n.868G>C n.835G>C | |
19 | g.11106588G= | CA2322768154 | LDLR | c.976G= (p.Glu326=) c.718G= (p.Glu240=) c.972G= c.314-804G= (n.314-804G=) c.595G= (p.Glu199=) c.337G= (p.Glu113=) n.233G= c.318G= n.868G= n.835G= | |
19 | g.11106588G>T | CA10585103 | LDLR | c.976G>T (p.Glu326Ter) c.718G>T (p.Glu240Ter) c.972G>T c.314-804G>T (n.314-804G>T) c.595G>T (p.Glu199Ter) c.337G>T (p.Glu113Ter) n.233G>T c.318G>T n.868G>T n.835G>T | ClinVar dbSNP |
19 | g.11106589_11106596del | CA2838010115 | LDLR | c.977_984del (p.Glu326ValfsTer3) c.719_726del (p.Glu240ValfsTer3) c.973_980del c.314-803_314-796del (n.314-803_314-796del) c.596_603del (p.Glu199ValfsTer3) c.338_345del (p.Glu113ValfsTer3) n.234_241del c.319_326del n.869_876del n.836_843del | |
19 | g.11106589A>C | CA404079525 | LDLR | c.977A>C (p.Glu326Ala) c.719A>C (p.Glu240Ala) c.973A>C c.314-803A>C (n.314-803A>C) c.596A>C (p.Glu199Ala) c.338A>C (p.Glu113Ala) n.234A>C c.319A>C n.869A>C n.836A>C | COSMIC |
19 | g.11106589A>G | CA404079529 | LDLR | c.977A>G (p.Glu326Gly) c.719A>G (p.Glu240Gly) c.973A>G c.314-803A>G (n.314-803A>G) c.596A>G (p.Glu199Gly) c.338A>G (p.Glu113Gly) n.234A>G c.319A>G n.869A>G n.836A>G | |
19 | g.11106589A>T | CA404079549 | LDLR | c.977A>T (p.Glu326Val) c.719A>T (p.Glu240Val) c.973A>T c.314-803A>T (n.314-803A>T) c.596A>T (p.Glu199Val) c.338A>T (p.Glu113Val) n.234A>T c.319A>T n.869A>T n.836A>T | |
19 | g.11106590A= | CA2322768155 | LDLR | c.978A= (p.Glu326=) c.720A= (p.Glu240=) c.974A= c.314-802A= (n.314-802A=) c.597A= (p.Glu199=) c.339A= (p.Glu113=) n.235A= c.320A= n.870A= n.837A= | |
19 | g.11106590A>C | CA404079555 | LDLR | c.978A>C (p.Glu326Asp) c.720A>C (p.Glu240Asp) c.974A>C c.314-802A>C (n.314-802A>C) c.597A>C (p.Glu199Asp) c.339A>C (p.Glu113Asp) n.235A>C c.320A>C n.870A>C n.837A>C | |
19 | g.11106590A>G | CA044625 | LDLR | c.978A>G (p.Glu326=) c.720A>G (p.Glu240=) c.974A>G c.314-802A>G (n.314-802A>G) c.597A>G (p.Glu199=) c.339A>G (p.Glu113=) n.235A>G c.320A>G n.870A>G n.837A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106590A>T | CA404079561 | LDLR | c.978A>T (p.Glu326Asp) c.720A>T (p.Glu240Asp) c.974A>T c.314-802A>T (n.314-802A>T) c.597A>T (p.Glu199Asp) c.339A>T (p.Glu113Asp) n.235A>T c.320A>T n.870A>T n.837A>T | |
19 | g.11106591T>A | CA404079565 | LDLR | c.979T>A (p.Phe327Ile) c.721T>A (p.Phe241Ile) c.975T>A c.314-801T>A (n.314-801T>A) c.598T>A (p.Phe200Ile) c.340T>A (p.Phe114Ile) n.236T>A c.321T>A n.871T>A n.838T>A | |
19 | g.11106591T>C | CA404079568 | LDLR | c.979T>C (p.Phe327Leu) c.721T>C (p.Phe241Leu) c.975T>C c.314-801T>C (n.314-801T>C) c.598T>C (p.Phe200Leu) c.340T>C (p.Phe114Leu) n.236T>C c.321T>C n.871T>C n.838T>C | |
19 | g.11106591T>G | CA404079571 | LDLR | c.979T>G (p.Phe327Val) c.721T>G (p.Phe241Val) c.975T>G c.314-801T>G (n.314-801T>G) c.598T>G (p.Phe200Val) c.340T>G (p.Phe114Val) n.236T>G c.321T>G n.871T>G n.838T>G | |
19 | g.11106592del | CA2695228113 | LDLR | c.980del (p.Phe327SerfsTer24) c.722del (p.Phe241SerfsTer24) c.976del c.314-800del (n.314-800del) c.599del (p.Phe200SerfsTer24) c.341del (p.Phe114SerfsTer24) n.237del c.322del n.872del n.839del | |
19 | g.11106592T>A | CA404079575 | LDLR | c.980T>A (p.Phe327Tyr) c.722T>A (p.Phe241Tyr) c.976T>A c.314-800T>A (n.314-800T>A) c.599T>A (p.Phe200Tyr) c.341T>A (p.Phe114Tyr) n.237T>A c.322T>A n.872T>A n.839T>A | |
19 | g.11106592T>C | CA044642 | LDLR | c.980T>C (p.Phe327Ser) c.722T>C (p.Phe241Ser) c.976T>C c.314-800T>C (n.314-800T>C) c.599T>C (p.Phe200Ser) c.341T>C (p.Phe114Ser) n.237T>C c.322T>C n.872T>C n.839T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106592T>G | CA404079574 | LDLR | c.980T>G (p.Phe327Cys) c.722T>G (p.Phe241Cys) c.976T>G c.314-800T>G (n.314-800T>G) c.599T>G (p.Phe200Cys) c.341T>G (p.Phe114Cys) n.237T>G c.322T>G n.872T>G n.839T>G | ClinVar dbSNP |
19 | g.11106592T= | CA2322768156 | LDLR | c.980T= (p.Phe327=) c.722T= (p.Phe241=) c.976T= c.314-800T= (n.314-800T=) c.599T= (p.Phe200=) c.341T= (p.Phe114=) n.237T= c.322T= n.872T= n.839T= | |
19 | g.11106593C>A | CA404079576 | LDLR | c.981C>A (p.Phe327Leu) c.723C>A (p.Phe241Leu) c.977C>A c.314-799C>A (n.314-799C>A) c.600C>A (p.Phe200Leu) c.342C>A (p.Phe114Leu) n.238C>A c.323C>A n.873C>A n.840C>A | gnomAD v4 |
19 | g.11106593C>G | CA404079578 | LDLR | c.981C>G (p.Phe327Leu) c.723C>G (p.Phe241Leu) c.977C>G c.314-799C>G (n.314-799C>G) c.600C>G (p.Phe200Leu) c.342C>G (p.Phe114Leu) n.238C>G c.323C>G n.873C>G n.840C>G | |
19 | g.11106593C>T | CA505484892 | LDLR | c.981C>T (p.Phe327=) c.723C>T (p.Phe241=) c.977C>T c.314-799C>T (n.314-799C>T) c.600C>T (p.Phe200=) c.342C>T (p.Phe114=) n.238C>T c.323C>T n.873C>T n.840C>T | COSMIC |
19 | g.11106594C>A | CA404079580 | LDLR | c.982C>A (p.Gln328Lys) c.724C>A (p.Gln242Lys) c.978C>A c.314-798C>A (n.314-798C>A) c.601C>A (p.Gln201Lys) c.343C>A (p.Gln115Lys) n.239C>A c.324C>A n.874C>A n.841C>A | |
19 | g.11106594C= | CA2322768157 | LDLR | c.982C= (p.Gln328=) c.724C= (p.Gln242=) c.978C= c.314-798C= (n.314-798C=) c.601C= (p.Gln201=) c.343C= (p.Gln115=) n.239C= c.324C= n.874C= n.841C= | |
19 | g.11106594C>G | CA404079583 | LDLR | c.982C>G (p.Gln328Glu) c.724C>G (p.Gln242Glu) c.978C>G c.314-798C>G (n.314-798C>G) c.601C>G (p.Gln201Glu) c.343C>G (p.Gln115Glu) n.239C>G c.324C>G n.874C>G n.841C>G | |
19 | g.11106594C>T | CA10585104 | LDLR | c.982C>T (p.Gln328Ter) c.724C>T (p.Gln242Ter) c.978C>T c.314-798C>T (n.314-798C>T) c.601C>T (p.Gln201Ter) c.343C>T (p.Gln115Ter) n.239C>T c.324C>T n.874C>T n.841C>T | ClinVar dbSNP |
19 | g.11106595del | CA2695228114 | LDLR | c.983del (p.Gln328ArgfsTer23) c.725del (p.Gln242ArgfsTer23) c.979del c.314-797del (n.314-797del) c.602del (p.Gln201ArgfsTer23) c.344del (p.Gln115ArgfsTer23) n.240del c.325del n.875del n.842del | |
19 | g.11106595A>C | CA404079587 | LDLR | c.983A>C (p.Gln328Pro) c.725A>C (p.Gln242Pro) c.979A>C c.314-797A>C (n.314-797A>C) c.602A>C (p.Gln201Pro) c.344A>C (p.Gln115Pro) n.240A>C c.325A>C n.875A>C n.842A>C | |
19 | g.11106595A>G | CA404079590 | LDLR | c.983A>G (p.Gln328Arg) c.725A>G (p.Gln242Arg) c.979A>G c.314-797A>G (n.314-797A>G) c.602A>G (p.Gln201Arg) c.344A>G (p.Gln115Arg) n.240A>G c.325A>G n.875A>G n.842A>G | |
19 | g.11106595A>T | CA404079591 | LDLR | c.983A>T (p.Gln328Leu) c.725A>T (p.Gln242Leu) c.979A>T c.314-797A>T (n.314-797A>T) c.602A>T (p.Gln201Leu) c.344A>T (p.Gln115Leu) n.240A>T c.325A>T n.875A>T n.842A>T | |
19 | g.11106596G>A | CA505484893 | LDLR | c.984G>A (p.Gln328=) c.726G>A (p.Gln242=) c.980G>A c.314-796G>A (n.314-796G>A) c.603G>A (p.Gln201=) c.345G>A (p.Gln115=) n.241G>A c.326G>A n.876G>A n.843G>A | ClinVar |
19 | g.11106596G>C | CA404079595 | LDLR | c.984G>C (p.Gln328His) c.726G>C (p.Gln242His) c.980G>C c.314-796G>C (n.314-796G>C) c.603G>C (p.Gln201His) c.345G>C (p.Gln115His) n.241G>C c.326G>C n.876G>C n.843G>C | |
19 | g.11106596G>T | CA404079598 | LDLR | c.984G>T (p.Gln328His) c.726G>T (p.Gln242His) c.980G>T c.314-796G>T (n.314-796G>T) c.603G>T (p.Gln201His) c.345G>T (p.Gln115His) n.241G>T c.326G>T n.876G>T n.843G>T | |
19 | g.11106597T>A | CA404079600 | LDLR | c.985T>A (p.Cys329Ser) c.727T>A (p.Cys243Ser) c.981T>A c.314-795T>A (n.314-795T>A) c.604T>A (p.Cys202Ser) c.346T>A (p.Cys116Ser) n.242T>A c.327T>A n.877T>A n.844T>A | ClinVar dbSNP |
19 | g.11106597T>C | CA10585105 | LDLR | c.985T>C (p.Cys329Arg) c.727T>C (p.Cys243Arg) c.981T>C c.314-795T>C (n.314-795T>C) c.604T>C (p.Cys202Arg) c.346T>C (p.Cys116Arg) n.242T>C c.327T>C n.877T>C n.844T>C | ClinVar dbSNP |
19 | g.11106597T>G | CA404079605 | LDLR | c.985T>G (p.Cys329Gly) c.727T>G (p.Cys243Gly) c.981T>G c.314-795T>G (n.314-795T>G) c.604T>G (p.Cys202Gly) c.346T>G (p.Cys116Gly) n.242T>G c.327T>G n.877T>G n.844T>G | |
19 | g.11106597T= | CA2322768158 | LDLR | c.985T= (p.Cys329=) c.727T= (p.Cys243=) c.981T= c.314-795T= (n.314-795T=) c.604T= (p.Cys202=) c.346T= (p.Cys116=) n.242T= c.327T= n.877T= n.844T= | |
19 | g.11106598G>A | CA404079613 | LDLR | c.986G>A (p.Cys329Tyr) c.728G>A (p.Cys243Tyr) c.982G>A c.314-794G>A (n.314-794G>A) c.605G>A (p.Cys202Tyr) c.347G>A (p.Cys116Tyr) n.243G>A c.328G>A n.878G>A n.845G>A | |
19 | g.11106598G>C | CA404079610 | LDLR | c.986G>C (p.Cys329Ser) c.728G>C (p.Cys243Ser) c.982G>C c.314-794G>C (n.314-794G>C) c.605G>C (p.Cys202Ser) c.347G>C (p.Cys116Ser) n.243G>C c.328G>C n.878G>C n.845G>C | |
19 | g.11106598G>T | CA404079607 | LDLR | c.986G>T (p.Cys329Phe) c.728G>T (p.Cys243Phe) c.982G>T c.314-794G>T (n.314-794G>T) c.605G>T (p.Cys202Phe) c.347G>T (p.Cys116Phe) n.243G>T c.328G>T n.878G>T n.845G>T | |
19 | g.11106599C>A | CA404079620 | LDLR | c.987C>A (p.Cys329Ter) c.729C>A (p.Cys243Ter) c.983C>A c.314-793C>A (n.314-793C>A) c.606C>A (p.Cys202Ter) c.348C>A (p.Cys116Ter) n.244C>A c.329C>A n.879C>A n.846C>A | gnomAD v4 |
19 | g.11106599C>G | CA404079617 | LDLR | c.987C>G (p.Cys329Trp) c.729C>G (p.Cys243Trp) c.983C>G c.314-793C>G (n.314-793C>G) c.606C>G (p.Cys202Trp) c.348C>G (p.Cys116Trp) n.244C>G c.329C>G n.879C>G n.846C>G | |
19 | g.11106599C>T | CA505484894 | LDLR | c.987C>T (p.Cys329=) c.729C>T (p.Cys243=) c.983C>T c.314-793C>T (n.314-793C>T) c.606C>T (p.Cys202=) c.348C>T (p.Cys116=) n.244C>T c.329C>T n.879C>T n.846C>T | ClinVar |
19 | g.11106600T>A | CA404079625 | LDLR | c.988T>A (p.Ser330Thr) c.730T>A (p.Ser244Thr) c.984T>A c.314-792T>A (n.314-792T>A) c.607T>A (p.Ser203Thr) c.349T>A (p.Ser117Thr) n.245T>A c.330T>A n.880T>A n.847T>A | |
19 | g.11106600T>C | CA404079627 | LDLR | c.988T>C (p.Ser330Pro) c.730T>C (p.Ser244Pro) c.984T>C c.314-792T>C (n.314-792T>C) c.607T>C (p.Ser203Pro) c.349T>C (p.Ser117Pro) n.245T>C c.330T>C n.880T>C n.847T>C | |
19 | g.11106600T>G | CA404079631 | LDLR | c.988T>G (p.Ser330Ala) c.730T>G (p.Ser244Ala) c.984T>G c.314-792T>G (n.314-792T>G) c.607T>G (p.Ser203Ala) c.349T>G (p.Ser117Ala) n.245T>G c.330T>G n.880T>G n.847T>G | gnomAD v4 |
19 | g.11106601C>A | CA404079635 | LDLR | c.989C>A (p.Ser330Tyr) c.731C>A (p.Ser244Tyr) c.985C>A c.314-791C>A (n.314-791C>A) c.608C>A (p.Ser203Tyr) c.350C>A (p.Ser117Tyr) n.246C>A c.331C>A n.881C>A n.848C>A | |
19 | g.11106601C= | CA2322768159 | LDLR | c.989C= (p.Ser330=) c.731C= (p.Ser244=) c.985C= c.314-791C= (n.314-791C=) c.608C= (p.Ser203=) c.350C= (p.Ser117=) n.246C= c.331C= n.881C= n.848C= | |
19 | g.11106601C>G | CA404079636 | LDLR | c.989C>G (p.Ser330Cys) c.731C>G (p.Ser244Cys) c.985C>G c.314-791C>G (n.314-791C>G) c.608C>G (p.Ser203Cys) c.350C>G (p.Ser117Cys) n.246C>G c.331C>G n.881C>G n.848C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106601C>T | CA404079640 | LDLR | c.989C>T (p.Ser330Phe) c.731C>T (p.Ser244Phe) c.985C>T c.314-791C>T (n.314-791C>T) c.608C>T (p.Ser203Phe) c.350C>T (p.Ser117Phe) n.246C>T c.331C>T n.881C>T n.848C>T | |
19 | g.11106602del | CA2573050585 | LDLR | c.990del (p.Asp331MetfsTer20) c.732del (p.Asp245MetfsTer20) c.986del c.314-790del (n.314-790del) c.609del (p.Asp204MetfsTer20) c.351del (p.Asp118MetfsTer20) n.247del c.332del n.882del n.849del | |
19 | g.11106602T>A | CA505484895 | LDLR | c.990T>A (p.Ser330=) c.732T>A (p.Ser244=) c.986T>A c.314-790T>A (n.314-790T>A) c.609T>A (p.Ser203=) c.351T>A (p.Ser117=) n.247T>A c.332T>A n.882T>A n.849T>A | |
19 | g.11106602T>C | CA505484896 | LDLR | c.990T>C (p.Ser330=) c.732T>C (p.Ser244=) c.986T>C c.314-790T>C (n.314-790T>C) c.609T>C (p.Ser203=) c.351T>C (p.Ser117=) n.247T>C c.332T>C n.882T>C n.849T>C | |
19 | g.11106602T>G | CA505484897 | LDLR | c.990T>G (p.Ser330=) c.732T>G (p.Ser244=) c.986T>G c.314-790T>G (n.314-790T>G) c.609T>G (p.Ser203=) c.351T>G (p.Ser117=) n.247T>G c.332T>G n.882T>G n.849T>G | |
19 | g.11106603G>A | CA404079648 | LDLR | c.991G>A (p.Asp331Asn) c.733G>A (p.Asp245Asn) c.987G>A c.314-789G>A (n.314-789G>A) c.610G>A (p.Asp204Asn) c.352G>A (p.Asp118Asn) n.248G>A c.333G>A n.883G>A n.850G>A | |
19 | g.11106603G>C | CA404079643 | LDLR | c.991G>C (p.Asp331His) c.733G>C (p.Asp245His) c.987G>C c.314-789G>C (n.314-789G>C) c.610G>C (p.Asp204His) c.352G>C (p.Asp118His) n.248G>C c.333G>C n.883G>C n.850G>C | |
19 | g.11106603G>T | CA404079645 | LDLR | c.991G>T (p.Asp331Tyr) c.733G>T (p.Asp245Tyr) c.987G>T c.314-789G>T (n.314-789G>T) c.610G>T (p.Asp204Tyr) c.352G>T (p.Asp118Tyr) n.248G>T c.333G>T n.883G>T n.850G>T | COSMIC |
19 | g.11106603dup | CA2695238653 | LDLR | c.991dup (p.Asp331GlyfsTer12) c.733dup (p.Asp245GlyfsTer12) c.987dup c.314-789dup (n.314-789dup) c.610dup (p.Asp204GlyfsTer12) c.352dup (p.Asp118GlyfsTer12) n.248dup c.333dup n.883dup n.850dup | |
19 | g.11106604A>C | CA404079651 | LDLR | c.992A>C (p.Asp331Ala) c.734A>C (p.Asp245Ala) c.988A>C c.314-788A>C (n.314-788A>C) c.611A>C (p.Asp204Ala) c.353A>C (p.Asp118Ala) n.249A>C c.334A>C n.884A>C n.851A>C | |
19 | g.11106604A>G | CA404079654 | LDLR | c.992A>G (p.Asp331Gly) c.734A>G (p.Asp245Gly) c.988A>G c.314-788A>G (n.314-788A>G) c.611A>G (p.Asp204Gly) c.353A>G (p.Asp118Gly) n.249A>G c.334A>G n.884A>G n.851A>G | |
19 | g.11106604A>T | CA404079655 | LDLR | c.992A>T (p.Asp331Val) c.734A>T (p.Asp245Val) c.988A>T c.314-788A>T (n.314-788A>T) c.611A>T (p.Asp204Val) c.353A>T (p.Asp118Val) n.249A>T c.334A>T n.884A>T n.851A>T | |
19 | g.11106605T>A | CA16609323 | LDLR | c.993T>A (p.Asp331Glu) c.735T>A (p.Asp245Glu) c.989T>A c.314-787T>A (n.314-787T>A) c.612T>A (p.Asp204Glu) c.354T>A (p.Asp118Glu) n.250T>A c.335T>A n.885T>A n.852T>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106605T>C | CA505484898 | LDLR | c.993T>C (p.Asp331=) c.735T>C (p.Asp245=) c.989T>C c.314-787T>C (n.314-787T>C) c.612T>C (p.Asp204=) c.354T>C (p.Asp118=) n.250T>C c.335T>C n.885T>C n.852T>C | ClinVar dbSNP |
19 | g.11106605T>G | CA404079665 | LDLR | c.993T>G (p.Asp331Glu) c.735T>G (p.Asp245Glu) c.989T>G c.314-787T>G (n.314-787T>G) c.612T>G (p.Asp204Glu) c.354T>G (p.Asp118Glu) n.250T>G c.335T>G n.885T>G n.852T>G | |
19 | g.11106605T= | CA2322768161 | LDLR | c.993T= (p.Asp331=) c.735T= (p.Asp245=) c.989T= c.314-787T= (n.314-787T=) c.612T= (p.Asp204=) c.354T= (p.Asp118=) n.250T= c.335T= n.885T= n.852T= | |
19 | g.11106605_11106606delinsTG | CA2322768160 | LDLR | c.993_994delinsTG (p.Asp331=) c.735_736delinsTG (p.Asp245=) c.989_990delinsTG c.314-787_314-786delinsTG (n.314-787_314-786delinsTG) c.612_613delinsTG (p.Asp204=) c.354_355delinsTG (p.Asp118=) n.250_251delinsTG c.335_336delinsTG n.885_886delinsTG n.852_853delinsTG | |
19 | g.11106606G>A | CA044657 | LDLR | c.994G>A (p.Gly332Arg) c.736G>A (p.Gly246Arg) c.990G>A c.314-786G>A (n.314-786G>A) c.613G>A (p.Gly205Arg) c.355G>A (p.Gly119Arg) n.251G>A c.336G>A n.886G>A n.853G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106606G>C | CA404079673 | LDLR | c.994G>C (p.Gly332Arg) c.736G>C (p.Gly246Arg) c.990G>C c.314-786G>C (n.314-786G>C) c.613G>C (p.Gly205Arg) c.355G>C (p.Gly119Arg) n.251G>C c.336G>C n.886G>C n.853G>C | |
19 | g.11106606G= | CA2322768162 | LDLR | c.994G= (p.Gly332=) c.736G= (p.Gly246=) c.990G= c.314-786G= (n.314-786G=) c.613G= (p.Gly205=) c.355G= (p.Gly119=) n.251G= c.336G= n.886G= n.853G= | |
19 | g.11106606G>T | CA404079671 | LDLR | c.994G>T (p.Gly332Ter) c.736G>T (p.Gly246Ter) c.990G>T c.314-786G>T (n.314-786G>T) c.613G>T (p.Gly205Ter) c.355G>T (p.Gly119Ter) n.251G>T c.336G>T n.886G>T n.853G>T | |
19 | g.11106607del | CA10585107 | LDLR | c.995del (p.Gly332GlufsTer19) c.737del (p.Gly246GlufsTer19) c.991del c.314-785del (n.314-785del) c.614del (p.Gly205GlufsTer19) c.356del (p.Gly119GlufsTer19) n.252del c.337del n.887del n.854del | ClinVar dbSNP |
19 | g.11106607G>A | CA10585106 | LDLR | c.995G>A (p.Gly332Glu) c.737G>A (p.Gly246Glu) c.991G>A c.314-785G>A (n.314-785G>A) c.614G>A (p.Gly205Glu) c.356G>A (p.Gly119Glu) n.252G>A c.337G>A n.887G>A n.854G>A | ClinVar dbSNP |
19 | g.11106607G>C | CA404079677 | LDLR | c.995G>C (p.Gly332Ala) c.737G>C (p.Gly246Ala) c.991G>C c.314-785G>C (n.314-785G>C) c.614G>C (p.Gly205Ala) c.356G>C (p.Gly119Ala) n.252G>C c.337G>C n.887G>C n.854G>C | |
19 | g.11106607G= | CA2322768163 | LDLR | c.995G= (p.Gly332=) c.737G= (p.Gly246=) c.991G= c.314-785G= (n.314-785G=) c.614G= (p.Gly205=) c.356G= (p.Gly119=) n.252G= c.337G= n.887G= n.854G= | |
19 | g.11106607G>T | CA404079680 | LDLR | c.995G>T (p.Gly332Val) c.737G>T (p.Gly246Val) c.991G>T c.314-785G>T (n.314-785G>T) c.614G>T (p.Gly205Val) c.356G>T (p.Gly119Val) n.252G>T c.337G>T n.887G>T n.854G>T | ClinVar dbSNP |
19 | g.11106608A= | CA2322768164 | LDLR | c.996A= (p.Gly332=) c.738A= (p.Gly246=) c.992A= c.314-784A= (n.314-784A=) c.615A= (p.Gly205=) c.357A= (p.Gly119=) n.253A= c.338A= n.888A= n.855A= | |
19 | g.11106608A>C | CA505484899 | LDLR | c.996A>C (p.Gly332=) c.738A>C (p.Gly246=) c.992A>C c.314-784A>C (n.314-784A>C) c.615A>C (p.Gly205=) c.357A>C (p.Gly119=) n.253A>C c.338A>C n.888A>C n.855A>C | |
19 | g.11106608A>G | CA505484900 | LDLR | c.996A>G (p.Gly332=) c.738A>G (p.Gly246=) c.992A>G c.314-784A>G (n.314-784A>G) c.615A>G (p.Gly205=) c.357A>G (p.Gly119=) n.253A>G c.338A>G n.888A>G n.855A>G | ClinVar dbSNP |
19 | g.11106608A>T | CA505484901 | LDLR | c.996A>T (p.Gly332=) c.738A>T (p.Gly246=) c.992A>T c.314-784A>T (n.314-784A>T) c.615A>T (p.Gly205=) c.357A>T (p.Gly119=) n.253A>T c.338A>T n.888A>T n.855A>T | |
19 | g.11106609A>C | CA404079684 | LDLR | c.997A>C (p.Asn333His) c.739A>C (p.Asn247His) c.993A>C c.314-783A>C (n.314-783A>C) c.616A>C (p.Asn206His) c.358A>C (p.Asn120His) n.254A>C c.339A>C n.889A>C n.856A>C | |
19 | g.11106609A>G | CA404079686 | LDLR | c.997A>G (p.Asn333Asp) c.739A>G (p.Asn247Asp) c.993A>G c.314-783A>G (n.314-783A>G) c.616A>G (p.Asn206Asp) c.358A>G (p.Asn120Asp) n.254A>G c.339A>G n.889A>G n.856A>G | |
19 | g.11106609A>T | CA404079688 | LDLR | c.997A>T (p.Asn333Tyr) c.739A>T (p.Asn247Tyr) c.993A>T c.314-783A>T (n.314-783A>T) c.616A>T (p.Asn206Tyr) c.358A>T (p.Asn120Tyr) n.254A>T c.339A>T n.889A>T n.856A>T | |
19 | g.11106610A= | CA2322768165 | LDLR | c.998A= (p.Asn333=) c.740A= (p.Asn247=) c.994A= c.314-782A= (n.314-782A=) c.617A= (p.Asn206=) c.359A= (p.Asn120=) n.255A= c.340A= n.890A= n.857A= | |
19 | g.11106610A>C | CA404079689 | LDLR | c.998A>C (p.Asn333Thr) c.740A>C (p.Asn247Thr) c.994A>C c.314-782A>C (n.314-782A>C) c.617A>C (p.Asn206Thr) c.359A>C (p.Asn120Thr) n.255A>C c.340A>C n.890A>C n.857A>C | |
19 | g.11106610A>G | CA404079691 | LDLR | c.998A>G (p.Asn333Ser) c.740A>G (p.Asn247Ser) c.994A>G c.314-782A>G (n.314-782A>G) c.617A>G (p.Asn206Ser) c.359A>G (p.Asn120Ser) n.255A>G c.340A>G n.890A>G n.857A>G | dbSNP gnomAD v4 |
19 | g.11106610A>T | CA404079694 | LDLR | c.998A>T (p.Asn333Ile) c.740A>T (p.Asn247Ile) c.994A>T c.314-782A>T (n.314-782A>T) c.617A>T (p.Asn206Ile) c.359A>T (p.Asn120Ile) n.255A>T c.340A>T n.890A>T n.857A>T | |
19 | g.11106611C>A | CA404079696 | LDLR | c.999C>A (p.Asn333Lys) c.741C>A (p.Asn247Lys) c.995C>A c.314-781C>A (n.314-781C>A) c.618C>A (p.Asn206Lys) c.360C>A (p.Asn120Lys) n.256C>A c.341C>A n.891C>A n.858C>A | |
19 | g.11106611C>G | CA404079698 | LDLR | c.999C>G (p.Asn333Lys) c.741C>G (p.Asn247Lys) c.995C>G c.314-781C>G (n.314-781C>G) c.618C>G (p.Asn206Lys) c.360C>G (p.Asn120Lys) n.256C>G c.341C>G n.891C>G n.858C>G | ClinVar COSMIC |
19 | g.11106611C>T | CA505484923 | LDLR | c.999C>T (p.Asn333=) c.741C>T (p.Asn247=) c.995C>T c.314-781C>T (n.314-781C>T) c.618C>T (p.Asn206=) c.360C>T (p.Asn120=) n.256C>T c.341C>T n.891C>T n.858C>T | ClinVar |
19 | g.11106612T>A | CA404079700 | LDLR | c.1000T>A (p.Cys334Ser) c.742T>A (p.Cys248Ser) c.996T>A c.314-780T>A (n.314-780T>A) c.619T>A (p.Cys207Ser) c.361T>A (p.Cys121Ser) n.257T>A c.342T>A n.892T>A n.859T>A | |
19 | g.11106612T>C | CA404079703 | LDLR | c.1000T>C (p.Cys334Arg) c.742T>C (p.Cys248Arg) c.996T>C c.314-780T>C (n.314-780T>C) c.619T>C (p.Cys207Arg) c.361T>C (p.Cys121Arg) n.257T>C c.342T>C n.892T>C n.859T>C | |
19 | g.11106612T>G | CA10585108 | LDLR | c.1000T>G (p.Cys334Gly) c.742T>G (p.Cys248Gly) c.996T>G c.314-780T>G (n.314-780T>G) c.619T>G (p.Cys207Gly) c.361T>G (p.Cys121Gly) n.257T>G c.342T>G n.892T>G n.859T>G | ClinVar dbSNP gnomAD v4 |
19 | g.11106612T= | CA2322768166 | LDLR | c.1000T= (p.Cys334=) c.742T= (p.Cys248=) c.996T= c.314-780T= (n.314-780T=) c.619T= (p.Cys207=) c.361T= (p.Cys121=) n.257T= c.342T= n.892T= n.859T= | |
19 | g.11106613G>A | CA10585109 | LDLR | c.1001G>A (p.Cys334Tyr) c.743G>A (p.Cys248Tyr) c.997G>A c.314-779G>A (n.314-779G>A) c.620G>A (p.Cys207Tyr) c.362G>A (p.Cys121Tyr) n.258G>A c.343G>A n.893G>A n.860G>A | ClinVar dbSNP COSMIC |
19 | g.11106613G>C | CA16602314 | LDLR | c.1001G>C (p.Cys334Ser) c.743G>C (p.Cys248Ser) c.997G>C c.314-779G>C (n.314-779G>C) c.620G>C (p.Cys207Ser) c.362G>C (p.Cys121Ser) n.258G>C c.343G>C n.893G>C n.860G>C | ClinVar dbSNP |
19 | g.11106613G= | CA2322768167 | LDLR | c.1001G= (p.Cys334=) c.743G= (p.Cys248=) c.997G= c.314-779G= (n.314-779G=) c.620G= (p.Cys207=) c.362G= (p.Cys121=) n.258G= c.343G= n.893G= n.860G= | |
19 | g.11106613G>T | CA10585110 | LDLR | c.1001G>T (p.Cys334Phe) c.743G>T (p.Cys248Phe) c.997G>T c.314-779G>T (n.314-779G>T) c.620G>T (p.Cys207Phe) c.362G>T (p.Cys121Phe) n.258G>T c.343G>T n.893G>T n.860G>T | ClinVar dbSNP |
19 | g.11106613_11106614delinsAA | CA2838032758 | LDLR | c.1001_1002delinsAA (p.Cys334Ter) c.743_744delinsAA (p.Cys248Ter) c.997_998delinsAA c.314-779_314-778delinsAA (n.314-779_314-778delinsAA) c.620_621delinsAA (p.Cys207Ter) c.362_363delinsAA (p.Cys121Ter) n.258_259delinsAA c.343_344delinsAA n.893_894delinsAA n.860_861delinsAA | |
19 | g.11106614C>A | CA10585111 | LDLR | c.1002C>A (p.Cys334Ter) c.744C>A (p.Cys248Ter) c.998C>A c.314-778C>A (n.314-778C>A) c.621C>A (p.Cys207Ter) c.363C>A (p.Cys121Ter) n.259C>A c.344C>A n.894C>A n.861C>A | ClinVar dbSNP |
19 | g.11106614C= | CA2322768168 | LDLR | c.1002C= (p.Cys334=) c.744C= (p.Cys248=) c.998C= c.314-778C= (n.314-778C=) c.621C= (p.Cys207=) c.363C= (p.Cys121=) n.259C= c.344C= n.894C= n.861C= | |
19 | g.11106614C>G | CA404079709 | LDLR | c.1002C>G (p.Cys334Trp) c.744C>G (p.Cys248Trp) c.998C>G c.314-778C>G (n.314-778C>G) c.621C>G (p.Cys207Trp) c.363C>G (p.Cys121Trp) n.259C>G c.344C>G n.894C>G n.861C>G | |
19 | g.11106614C>T | CA505484925 | LDLR | c.1002C>T (p.Cys334=) c.744C>T (p.Cys248=) c.998C>T c.314-778C>T (n.314-778C>T) c.621C>T (p.Cys207=) c.363C>T (p.Cys121=) n.259C>T c.344C>T n.894C>T n.861C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11106615A>C | CA404079711 | LDLR | c.1003A>C (p.Ile335Leu) c.745A>C (p.Ile249Leu) c.999A>C c.314-777A>C (n.314-777A>C) c.622A>C (p.Ile208Leu) c.364A>C (p.Ile122Leu) n.260A>C c.345A>C n.895A>C n.862A>C | |
19 | g.11106615A>G | CA404079713 | LDLR | c.1003A>G (p.Ile335Val) c.745A>G (p.Ile249Val) c.999A>G c.314-777A>G (n.314-777A>G) c.622A>G (p.Ile208Val) c.364A>G (p.Ile122Val) n.260A>G c.345A>G n.895A>G n.862A>G | COSMIC |
19 | g.11106615A>T | CA404079714 | LDLR | c.1003A>T (p.Ile335Phe) c.745A>T (p.Ile249Phe) c.999A>T c.314-777A>T (n.314-777A>T) c.622A>T (p.Ile208Phe) c.364A>T (p.Ile122Phe) n.260A>T c.345A>T n.895A>T n.862A>T | |
19 | g.11106616T>A | CA404079716 | LDLR | c.1004T>A (p.Ile335Asn) c.746T>A (p.Ile249Asn) c.1000T>A c.314-776T>A (n.314-776T>A) c.623T>A (p.Ile208Asn) c.365T>A (p.Ile122Asn) n.261T>A c.346T>A n.896T>A n.863T>A | |
19 | g.11106616T>C | CA10585112 | LDLR | c.1004T>C (p.Ile335Thr) c.746T>C (p.Ile249Thr) c.1000T>C c.314-776T>C (n.314-776T>C) c.623T>C (p.Ile208Thr) c.365T>C (p.Ile122Thr) n.261T>C c.346T>C n.896T>C n.863T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106616T>G | CA404079717 | LDLR | c.1004T>G (p.Ile335Ser) c.746T>G (p.Ile249Ser) c.1000T>G c.314-776T>G (n.314-776T>G) c.623T>G (p.Ile208Ser) c.365T>G (p.Ile122Ser) n.261T>G c.346T>G n.896T>G n.863T>G | |
19 | g.11106616T= | CA2322768169 | LDLR | c.1004T= (p.Ile335=) c.746T= (p.Ile249=) c.1000T= c.314-776T= (n.314-776T=) c.623T= (p.Ile208=) c.365T= (p.Ile122=) n.261T= c.346T= n.896T= n.863T= | |
19 | g.11106617C>A | CA505484927 | LDLR | c.1005C>A (p.Ile335=) c.747C>A (p.Ile249=) c.1001C>A c.314-775C>A (n.314-775C>A) c.624C>A (p.Ile208=) c.366C>A (p.Ile122=) n.262C>A c.347C>A n.897C>A n.864C>A | gnomAD v4 |
19 | g.11106617C>G | CA404079720 | LDLR | c.1005C>G (p.Ile335Met) c.747C>G (p.Ile249Met) c.1001C>G c.314-775C>G (n.314-775C>G) c.624C>G (p.Ile208Met) c.366C>G (p.Ile122Met) n.262C>G c.347C>G n.897C>G n.864C>G | |
19 | g.11106617C>T | CA505484929 | LDLR | c.1005C>T (p.Ile335=) c.747C>T (p.Ile249=) c.1001C>T c.314-775C>T (n.314-775C>T) c.624C>T (p.Ile208=) c.366C>T (p.Ile122=) n.262C>T c.347C>T n.897C>T n.864C>T | ClinVar |
19 | g.11106618C>A | CA404079724 | LDLR | c.1006C>A (p.His336Asn) c.748C>A (p.His250Asn) c.1002C>A c.314-774C>A (n.314-774C>A) c.625C>A (p.His209Asn) c.367C>A (p.His123Asn) n.263C>A c.348C>A n.898C>A n.865C>A | |
19 | g.11106618C>G | CA404079722 | LDLR | c.1006C>G (p.His336Asp) c.748C>G (p.His250Asp) c.1002C>G c.314-774C>G (n.314-774C>G) c.625C>G (p.His209Asp) c.367C>G (p.His123Asp) n.263C>G c.348C>G n.898C>G n.865C>G | |
19 | g.11106618C>T | CA404079723 | LDLR | c.1006C>T (p.His336Tyr) c.748C>T (p.His250Tyr) c.1002C>T c.314-774C>T (n.314-774C>T) c.625C>T (p.His209Tyr) c.367C>T (p.His123Tyr) n.263C>T c.348C>T n.898C>T n.865C>T | |
19 | g.11106619A= | CA2322768170 | LDLR | c.1007A= (p.His336=) c.749A= (p.His250=) c.1003A= c.314-773A= (n.314-773A=) c.626A= (p.His209=) c.368A= (p.His123=) n.264A= c.349A= n.899A= n.866A= | |
19 | g.11106619A>C | CA404079726 | LDLR | c.1007A>C (p.His336Pro) c.749A>C (p.His250Pro) c.1003A>C c.314-773A>C (n.314-773A>C) c.626A>C (p.His209Pro) c.368A>C (p.His123Pro) n.264A>C c.349A>C n.899A>C n.866A>C | gnomAD v4 |
19 | g.11106619A>G | CA404079728 | LDLR | c.1007A>G (p.His336Arg) c.749A>G (p.His250Arg) c.1003A>G c.314-773A>G (n.314-773A>G) c.626A>G (p.His209Arg) c.368A>G (p.His123Arg) n.264A>G c.349A>G n.899A>G n.866A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106619A>T | CA404079731 | LDLR | c.1007A>T (p.His336Leu) c.749A>T (p.His250Leu) c.1003A>T c.314-773A>T (n.314-773A>T) c.626A>T (p.His209Leu) c.368A>T (p.His123Leu) n.264A>T c.349A>T n.899A>T n.866A>T | |
19 | g.11106620T>A | CA305298358 | LDLR | c.1008T>A (p.His336Gln) c.750T>A (p.His250Gln) c.1004T>A c.314-772T>A (n.314-772T>A) c.627T>A (p.His209Gln) c.369T>A (p.His123Gln) n.265T>A c.350T>A n.900T>A n.867T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106620T>C | CA10585113 | LDLR | c.1008T>C (p.His336=) c.750T>C (p.His250=) c.1004T>C c.314-772T>C (n.314-772T>C) c.627T>C (p.His209=) c.369T>C (p.His123=) n.265T>C c.350T>C n.900T>C n.867T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106620T>G | CA404079742 | LDLR | c.1008T>G (p.His336Gln) c.750T>G (p.His250Gln) c.1004T>G c.314-772T>G (n.314-772T>G) c.627T>G (p.His209Gln) c.369T>G (p.His123Gln) n.265T>G c.350T>G n.900T>G n.867T>G | |
19 | g.11106620T= | CA2322768171 | LDLR | c.1008T= (p.His336=) c.750T= (p.His250=) c.1004T= c.314-772T= (n.314-772T=) c.627T= (p.His209=) c.369T= (p.His123=) n.265T= c.350T= n.900T= n.867T= | |
19 | g.11106621G>A | CA029211 | LDLR | c.1009G>A (p.Gly337Ser) c.751G>A (p.Gly251Ser) c.1005G>A c.314-771G>A (n.314-771G>A) c.628G>A (p.Gly210Ser) c.370G>A (p.Gly124Ser) n.266G>A c.351G>A n.901G>A n.868G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106621G>C | CA404079749 | LDLR | c.1009G>C (p.Gly337Arg) c.751G>C (p.Gly251Arg) c.1005G>C c.314-771G>C (n.314-771G>C) c.628G>C (p.Gly210Arg) c.370G>C (p.Gly124Arg) n.266G>C c.351G>C n.901G>C n.868G>C | |
19 | g.11106621G= | CA2322768172 | LDLR | c.1009G= (p.Gly337=) c.751G= (p.Gly251=) c.1005G= c.314-771G= (n.314-771G=) c.628G= (p.Gly210=) c.370G= (p.Gly124=) n.266G= c.351G= n.901G= n.868G= | |
19 | g.11106621G>T | CA404079753 | LDLR | c.1009G>T (p.Gly337Cys) c.751G>T (p.Gly251Cys) c.1005G>T c.314-771G>T (n.314-771G>T) c.628G>T (p.Gly210Cys) c.370G>T (p.Gly124Cys) n.266G>T c.351G>T n.901G>T n.868G>T | |
19 | g.11106622dup | CA10585114 | LDLR | c.1010dup (p.Ser338GlnfsTer5) c.752dup (p.Ser252GlnfsTer5) c.1006dup c.314-770dup (n.314-770dup) c.629dup (p.Ser211GlnfsTer5) c.371dup (p.Ser125GlnfsTer5) n.267dup c.352dup n.902dup n.869dup | ClinVar dbSNP |
19 | g.11106626_11106632del | CA2573050586 | LDLR | c.1014_1020del (p.Arg339ValfsTer10) c.756_762del (p.Arg253ValfsTer10) c.1010_1016del c.314-766_314-760del (n.314-766_314-760del) c.633_639del (p.Arg212ValfsTer10) c.375_381del (p.Arg126ValfsTer10) n.271_277del c.356_362del n.906_912del n.873_879del | |
19 | g.11106622G>A | CA404079757 | LDLR | c.1010G>A (p.Gly337Asp) c.752G>A (p.Gly251Asp) c.1006G>A c.314-770G>A (n.314-770G>A) c.629G>A (p.Gly210Asp) c.371G>A (p.Gly124Asp) n.267G>A c.352G>A n.902G>A n.869G>A | ClinVar dbSNP |
19 | g.11106622G>C | CA404079761 | LDLR | c.1010G>C (p.Gly337Ala) c.752G>C (p.Gly251Ala) c.1006G>C c.314-770G>C (n.314-770G>C) c.629G>C (p.Gly210Ala) c.371G>C (p.Gly124Ala) n.267G>C c.352G>C n.902G>C n.869G>C | |
19 | g.11106622G= | CA2322768173 | LDLR | c.1010G= (p.Gly337=) c.752G= (p.Gly251=) c.1006G= c.314-770G= (n.314-770G=) c.629G= (p.Gly210=) c.371G= (p.Gly124=) n.267G= c.352G= n.902G= n.869G= | |
19 | g.11106622G>T | CA404079765 | LDLR | c.1010G>T (p.Gly337Val) c.752G>T (p.Gly251Val) c.1006G>T c.314-770G>T (n.314-770G>T) c.629G>T (p.Gly210Val) c.371G>T (p.Gly124Val) n.267G>T c.352G>T n.902G>T n.869G>T | |
19 | g.11106623C>A | CA505484931 | LDLR | c.1011C>A (p.Gly337=) c.753C>A (p.Gly251=) c.1007C>A c.314-769C>A (n.314-769C>A) c.630C>A (p.Gly210=) c.372C>A (p.Gly124=) n.268C>A c.353C>A n.903C>A n.870C>A | |
19 | g.11106623C= | CA2322768174 | LDLR | c.1011C= (p.Gly337=) c.753C= (p.Gly251=) c.1007C= c.314-769C= (n.314-769C=) c.630C= (p.Gly210=) c.372C= (p.Gly124=) n.268C= c.353C= n.903C= n.870C= | |
19 | g.11106623C>G | CA505484932 | LDLR | c.1011C>G (p.Gly337=) c.753C>G (p.Gly251=) c.1007C>G c.314-769C>G (n.314-769C>G) c.630C>G (p.Gly210=) c.372C>G (p.Gly124=) n.268C>G c.353C>G n.903C>G n.870C>G | |
19 | g.11106623C>T | CA505484934 | LDLR | c.1011C>T (p.Gly337=) c.753C>T (p.Gly251=) c.1007C>T c.314-769C>T (n.314-769C>T) c.630C>T (p.Gly210=) c.372C>T (p.Gly124=) n.268C>T c.353C>T n.903C>T n.870C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106624A>C | CA404079773 | LDLR | c.1012A>C (p.Ser338Arg) c.754A>C (p.Ser252Arg) c.1008A>C c.314-768A>C (n.314-768A>C) c.631A>C (p.Ser211Arg) c.373A>C (p.Ser125Arg) n.269A>C c.354A>C n.904A>C n.871A>C | |
19 | g.11106624A>G | CA404079783 | LDLR | c.1012A>G (p.Ser338Gly) c.754A>G (p.Ser252Gly) c.1008A>G c.314-768A>G (n.314-768A>G) c.631A>G (p.Ser211Gly) c.373A>G (p.Ser125Gly) n.269A>G c.354A>G n.904A>G n.871A>G | |
19 | g.11106624A>T | CA404079768 | LDLR | c.1012A>T (p.Ser338Cys) c.754A>T (p.Ser252Cys) c.1008A>T c.314-768A>T (n.314-768A>T) c.631A>T (p.Ser211Cys) c.373A>T (p.Ser125Cys) n.269A>T c.354A>T n.904A>T n.871A>T | |
19 | g.11106625G>A | CA404079787 | LDLR | c.1013G>A (p.Ser338Asn) c.755G>A (p.Ser252Asn) c.1009G>A c.314-767G>A (n.314-767G>A) c.632G>A (p.Ser211Asn) c.374G>A (p.Ser125Asn) n.270G>A c.355G>A n.905G>A n.872G>A | |
19 | g.11106625G>C | CA404079791 | LDLR | c.1013G>C (p.Ser338Thr) c.755G>C (p.Ser252Thr) c.1009G>C c.314-767G>C (n.314-767G>C) c.632G>C (p.Ser211Thr) c.374G>C (p.Ser125Thr) n.270G>C c.355G>C n.905G>C n.872G>C | |
19 | g.11106625G>T | CA404079795 | LDLR | c.1013G>T (p.Ser338Ile) c.755G>T (p.Ser252Ile) c.1009G>T c.314-767G>T (n.314-767G>T) c.632G>T (p.Ser211Ile) c.374G>T (p.Ser125Ile) n.270G>T c.355G>T n.905G>T n.872G>T | |
19 | g.11106626C>A | CA029237 | LDLR | c.1014C>A (p.Ser338Arg) c.756C>A (p.Ser252Arg) c.1010C>A c.314-766C>A (n.314-766C>A) c.633C>A (p.Ser211Arg) c.375C>A (p.Ser125Arg) n.271C>A c.356C>A n.906C>A n.873C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106626C= | CA2322768175 | LDLR | c.1014C= (p.Ser338=) c.756C= (p.Ser252=) c.1010C= c.314-766C= (n.314-766C=) c.633C= (p.Ser211=) c.375C= (p.Ser125=) n.271C= c.356C= n.906C= n.873C= | |
19 | g.11106626C>G | CA404079803 | LDLR | c.1014C>G (p.Ser338Arg) c.756C>G (p.Ser252Arg) c.1010C>G c.314-766C>G (n.314-766C>G) c.633C>G (p.Ser211Arg) c.375C>G (p.Ser125Arg) n.271C>G c.356C>G n.906C>G n.873C>G | |
19 | g.11106626C>T | CA505484937 | LDLR | c.1014C>T (p.Ser338=) c.756C>T (p.Ser252=) c.1010C>T c.314-766C>T (n.314-766C>T) c.633C>T (p.Ser211=) c.375C>T (p.Ser125=) n.271C>T c.356C>T n.906C>T n.873C>T | |
19 | g.11106627C>A | CA505484938 | LDLR | c.1015C>A (p.Arg339=) c.757C>A (p.Arg253=) c.1011C>A c.314-765C>A (n.314-765C>A) c.634C>A (p.Arg212=) c.376C>A (p.Arg126=) n.272C>A c.357C>A n.907C>A n.874C>A | |
19 | g.11106627C= | CA2322768176 | LDLR | c.1015C= (p.Arg339=) c.757C= (p.Arg253=) c.1011C= c.314-765C= (n.314-765C=) c.634C= (p.Arg212=) c.376C= (p.Arg126=) n.272C= c.357C= n.907C= n.874C= | |
19 | g.11106627C>G | CA404079806 | LDLR | c.1015C>G (p.Arg339Gly) c.757C>G (p.Arg253Gly) c.1011C>G c.314-765C>G (n.314-765C>G) c.634C>G (p.Arg212Gly) c.376C>G (p.Arg126Gly) n.272C>G c.357C>G n.907C>G n.874C>G | |
19 | g.11106627C>T | CA023757 | LDLR | c.1015C>T (p.Arg339Trp) c.757C>T (p.Arg253Trp) c.1011C>T c.314-765C>T (n.314-765C>T) c.634C>T (p.Arg212Trp) c.376C>T (p.Arg126Trp) n.272C>T c.357C>T n.907C>T n.874C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106628G>A | CA029258 | LDLR | c.1016G>A (p.Arg339Gln) c.758G>A (p.Arg253Gln) c.1012G>A c.314-764G>A (n.314-764G>A) c.635G>A (p.Arg212Gln) c.377G>A (p.Arg126Gln) n.273G>A c.358G>A n.908G>A n.875G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106628G>C | CA10585115 | LDLR | c.1016G>C (p.Arg339Pro) c.758G>C (p.Arg253Pro) c.1012G>C c.314-764G>C (n.314-764G>C) c.635G>C (p.Arg212Pro) c.377G>C (p.Arg126Pro) n.273G>C c.358G>C n.908G>C n.875G>C | ClinVar dbSNP |
19 | g.11106628G= | CA2322768177 | LDLR | c.1016G= (p.Arg339=) c.758G= (p.Arg253=) c.1012G= c.314-764G= (n.314-764G=) c.635G= (p.Arg212=) c.377G= (p.Arg126=) n.273G= c.358G= n.908G= n.875G= | |
19 | g.11106628G>T | CA404079816 | LDLR | c.1016G>T (p.Arg339Leu) c.758G>T (p.Arg253Leu) c.1012G>T c.314-764G>T (n.314-764G>T) c.635G>T (p.Arg212Leu) c.377G>T (p.Arg126Leu) n.273G>T c.358G>T n.908G>T n.875G>T | |
19 | g.11106629G>A | CA505484940 | LDLR | c.1017G>A (p.Arg339=) c.759G>A (p.Arg253=) c.1013G>A c.314-763G>A (n.314-763G>A) c.636G>A (p.Arg212=) c.378G>A (p.Arg126=) n.274G>A c.359G>A n.909G>A n.876G>A | ClinVar dbSNP COSMIC |
19 | g.11106629G>C | CA505484941 | LDLR | c.1017G>C (p.Arg339=) c.759G>C (p.Arg253=) c.1013G>C c.314-763G>C (n.314-763G>C) c.636G>C (p.Arg212=) c.378G>C (p.Arg126=) n.274G>C c.359G>C n.909G>C n.876G>C | |
19 | g.11106629G= | CA2322768178 | LDLR | c.1017G= (p.Arg339=) c.759G= (p.Arg253=) c.1013G= c.314-763G= (n.314-763G=) c.636G= (p.Arg212=) c.378G= (p.Arg126=) n.274G= c.359G= n.909G= n.876G= | |
19 | g.11106629G>T | CA505484942 | LDLR | c.1017G>T (p.Arg339=) c.759G>T (p.Arg253=) c.1013G>T c.314-763G>T (n.314-763G>T) c.636G>T (p.Arg212=) c.378G>T (p.Arg126=) n.274G>T c.359G>T n.909G>T n.876G>T | ClinVar |
19 | g.11106630C>A | CA404079829 | LDLR | c.1018C>A (p.Gln340Lys) c.760C>A (p.Gln254Lys) c.1014C>A c.314-762C>A (n.314-762C>A) c.637C>A (p.Gln213Lys) c.379C>A (p.Gln127Lys) n.275C>A c.360C>A n.910C>A n.877C>A | |
19 | g.11106630C= | CA2322768179 | LDLR | c.1018C= (p.Gln340=) c.760C= (p.Gln254=) c.1014C= c.314-762C= (n.314-762C=) c.637C= (p.Gln213=) c.379C= (p.Gln127=) n.275C= c.360C= n.910C= n.877C= | |
19 | g.11106630C>G | CA029271 | LDLR | c.1018C>G (p.Gln340Glu) c.760C>G (p.Gln254Glu) c.1014C>G c.314-762C>G (n.314-762C>G) c.637C>G (p.Gln213Glu) c.379C>G (p.Gln127Glu) n.275C>G c.360C>G n.910C>G n.877C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106630C>T | CA10585116 | LDLR | c.1018C>T (p.Gln340Ter) c.760C>T (p.Gln254Ter) c.1014C>T c.314-762C>T (n.314-762C>T) c.637C>T (p.Gln213Ter) c.379C>T (p.Gln127Ter) n.275C>T c.360C>T n.910C>T n.877C>T | ClinVar dbSNP |
19 | g.11106631A= | CA2322768180 | LDLR | c.1019A= (p.Gln340=) c.761A= (p.Gln254=) c.1015A= c.314-761A= (n.314-761A=) c.638A= (p.Gln213=) c.380A= (p.Gln127=) n.276A= c.361A= n.911A= n.878A= | |
19 | g.11106631A>C | CA10585117 | LDLR | c.1019A>C (p.Gln340Pro) c.761A>C (p.Gln254Pro) c.1015A>C c.314-761A>C (n.314-761A>C) c.638A>C (p.Gln213Pro) c.380A>C (p.Gln127Pro) n.276A>C c.361A>C n.911A>C n.878A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11106631A>G | CA404079843 | LDLR | c.1019A>G (p.Gln340Arg) c.761A>G (p.Gln254Arg) c.1015A>G c.314-761A>G (n.314-761A>G) c.638A>G (p.Gln213Arg) c.380A>G (p.Gln127Arg) n.276A>G c.361A>G n.911A>G n.878A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106631A>T | CA404079840 | LDLR | c.1019A>T (p.Gln340Leu) c.761A>T (p.Gln254Leu) c.1015A>T c.314-761A>T (n.314-761A>T) c.638A>T (p.Gln213Leu) c.380A>T (p.Gln127Leu) n.276A>T c.361A>T n.911A>T n.878A>T | |
19 | g.11106632G>A | CA029289 | LDLR | c.1020G>A (p.Gln340=) c.762G>A (p.Gln254=) c.1016G>A c.314-760G>A (n.314-760G>A) c.639G>A (p.Gln213=) c.381G>A (p.Gln127=) n.277G>A c.362G>A n.912G>A n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106632G>C | CA404079854 | LDLR | c.1020G>C (p.Gln340His) c.762G>C (p.Gln254His) c.1016G>C c.314-760G>C (n.314-760G>C) c.639G>C (p.Gln213His) c.381G>C (p.Gln127His) n.277G>C c.362G>C n.912G>C n.879G>C | |
19 | g.11106632G= | CA2322768181 | LDLR | c.1020G= (p.Gln340=) c.762G= (p.Gln254=) c.1016G= c.314-760G= (n.314-760G=) c.639G= (p.Gln213=) c.381G= (p.Gln127=) n.277G= c.362G= n.912G= n.879G= | |
19 | g.11106632G>T | CA10585118 | LDLR | c.1020G>T (p.Gln340His) c.762G>T (p.Gln254His) c.1016G>T c.314-760G>T (n.314-760G>T) c.639G>T (p.Gln213His) c.381G>T (p.Gln127His) n.277G>T c.362G>T n.912G>T n.879G>T | ClinVar dbSNP |
19 | g.11106632_11106633delinsAC | CA10585119 | LDLR | c.1020_1021delinsAC (p.Cys341Arg) c.762_763delinsAC (p.Cys255Arg) c.1016_1017delinsAC c.314-760_314-759delinsAC (n.314-760_314-759delinsAC) c.639_640delinsAC (p.Cys214Arg) c.381_382delinsAC (p.Cys128Arg) n.277_278delinsAC c.362_363delinsAC n.912_913delinsAC n.879_880delinsAC | ClinVar |
19 | g.11106632_11106633delinsTG | CA2573050587 | LDLR | c.1020_1021delinsTG (p.Gln340_Cys341delinsHisGly) c.762_763delinsTG (p.Gln254_Cys255delinsHisGly) c.1016_1017delinsTG c.314-760_314-759delinsTG (n.314-760_314-759delinsTG) c.639_640delinsTG (p.Gln213_Cys214delinsHisGly) c.381_382delinsTG (p.Gln127_Cys128delinsHisGly) n.277_278delinsTG c.362_363delinsTG n.912_913delinsTG n.879_880delinsTG | |
19 | g.11106633T>A | CA10585120 | LDLR | c.1021T>A (p.Cys341Ser) c.763T>A (p.Cys255Ser) c.1017T>A c.314-759T>A (n.314-759T>A) c.640T>A (p.Cys214Ser) c.382T>A (p.Cys128Ser) n.278T>A c.363T>A n.913T>A n.880T>A | ClinVar dbSNP |
19 | g.11106633T>C | CA10585121 | LDLR | c.1021T>C (p.Cys341Arg) c.763T>C (p.Cys255Arg) c.1017T>C c.314-759T>C (n.314-759T>C) c.640T>C (p.Cys214Arg) c.382T>C (p.Cys128Arg) n.278T>C c.363T>C n.913T>C n.880T>C | ClinVar dbSNP gnomAD v2 |
19 | g.11106633T>G | CA10585122 | LDLR | c.1021T>G (p.Cys341Gly) c.763T>G (p.Cys255Gly) c.1017T>G c.314-759T>G (n.314-759T>G) c.640T>G (p.Cys214Gly) c.382T>G (p.Cys128Gly) n.278T>G c.363T>G n.913T>G n.880T>G | ClinVar dbSNP |
19 | g.11106633T= | CA2322768182 | LDLR | c.1021T= (p.Cys341=) c.763T= (p.Cys255=) c.1017T= c.314-759T= (n.314-759T=) c.640T= (p.Cys214=) c.382T= (p.Cys128=) n.278T= c.363T= n.913T= n.880T= | |
19 | g.11106634G>A | CA10585123 | LDLR | c.1022G>A (p.Cys341Tyr) c.764G>A (p.Cys255Tyr) c.1018G>A c.314-758G>A (n.314-758G>A) c.641G>A (p.Cys214Tyr) c.383G>A (p.Cys128Tyr) n.279G>A c.364G>A n.914G>A n.881G>A | ClinVar dbSNP |
19 | g.11106634G>C | CA404079870 | LDLR | c.1022G>C (p.Cys341Ser) c.764G>C (p.Cys255Ser) c.1018G>C c.314-758G>C (n.314-758G>C) c.641G>C (p.Cys214Ser) c.383G>C (p.Cys128Ser) n.279G>C c.364G>C n.914G>C n.881G>C | |
19 | g.11106634G= | CA2322768183 | LDLR | c.1022G= (p.Cys341=) c.764G= (p.Cys255=) c.1018G= c.314-758G= (n.314-758G=) c.641G= (p.Cys214=) c.383G= (p.Cys128=) n.279G= c.364G= n.914G= n.881G= | |
19 | g.11106634G>T | CA404079874 | LDLR | c.1022G>T (p.Cys341Phe) c.764G>T (p.Cys255Phe) c.1018G>T c.314-758G>T (n.314-758G>T) c.641G>T (p.Cys214Phe) c.383G>T (p.Cys128Phe) n.279G>T c.364G>T n.914G>T n.881G>T | ClinVar dbSNP |
19 | g.11106634_11106635delinsTA | CA2830763871 | LDLR | c.1022_1023delinsTA (p.Cys341Leu) c.764_765delinsTA (p.Cys255Leu) c.1018_1019delinsTA c.314-758_314-757delinsTA (n.314-758_314-757delinsTA) c.641_642delinsTA (p.Cys214Leu) c.383_384delinsTA (p.Cys128Leu) n.279_280delinsTA c.364_365delinsTA n.914_915delinsTA n.881_882delinsTA | |
19 | g.11106635T>A | CA404079880 | LDLR | c.1023T>A (p.Cys341Ter) c.765T>A (p.Cys255Ter) c.1019T>A c.314-757T>A (n.314-757T>A) c.642T>A (p.Cys214Ter) c.384T>A (p.Cys128Ter) n.280T>A c.365T>A n.915T>A n.882T>A | |
19 | g.11106635T>C | CA505484947 | LDLR | c.1023T>C (p.Cys341=) c.765T>C (p.Cys255=) c.1019T>C c.314-757T>C (n.314-757T>C) c.642T>C (p.Cys214=) c.384T>C (p.Cys128=) n.280T>C c.365T>C n.915T>C n.882T>C | |
19 | g.11106635T>G | CA404079884 | LDLR | c.1023T>G (p.Cys341Trp) c.765T>G (p.Cys255Trp) c.1019T>G c.314-757T>G (n.314-757T>G) c.642T>G (p.Cys214Trp) c.384T>G (p.Cys128Trp) n.280T>G c.365T>G n.915T>G n.882T>G | |
19 | g.11106636G>A | CA404079889 | LDLR | c.1024G>A (p.Asp342Asn) c.766G>A (p.Asp256Asn) c.1020G>A c.314-756G>A (n.314-756G>A) c.643G>A (p.Asp215Asn) c.385G>A (p.Asp129Asn) n.281G>A c.366G>A n.916G>A n.883G>A | |
19 | g.11106636G>C | CA404079892 | LDLR | c.1024G>C (p.Asp342His) c.766G>C (p.Asp256His) c.1020G>C c.314-756G>C (n.314-756G>C) c.643G>C (p.Asp215His) c.385G>C (p.Asp129His) n.281G>C c.366G>C n.916G>C n.883G>C | |
19 | g.11106636G>T | CA404079897 | LDLR | c.1024G>T (p.Asp342Tyr) c.766G>T (p.Asp256Tyr) c.1020G>T c.314-756G>T (n.314-756G>T) c.643G>T (p.Asp215Tyr) c.385G>T (p.Asp129Tyr) n.281G>T c.366G>T n.916G>T n.883G>T | |
19 | g.11106637A= | CA2322768184 | LDLR | c.1025A= (p.Asp342=) c.767A= (p.Asp256=) c.1021A= c.314-755A= (n.314-755A=) c.644A= (p.Asp215=) c.386A= (p.Asp129=) n.282A= c.367A= n.917A= n.884A= | |
19 | g.11106637A>C | CA404079906 | LDLR | c.1025A>C (p.Asp342Ala) c.767A>C (p.Asp256Ala) c.1021A>C c.314-755A>C (n.314-755A>C) c.644A>C (p.Asp215Ala) c.386A>C (p.Asp129Ala) n.282A>C c.367A>C n.917A>C n.884A>C | |
19 | g.11106637A>G | CA10585124 | LDLR | c.1025A>G (p.Asp342Gly) c.767A>G (p.Asp256Gly) c.1021A>G c.314-755A>G (n.314-755A>G) c.644A>G (p.Asp215Gly) c.386A>G (p.Asp129Gly) n.282A>G c.367A>G n.917A>G n.884A>G | ClinVar dbSNP |
19 | g.11106637A>T | CA404079901 | LDLR | c.1025A>T (p.Asp342Val) c.767A>T (p.Asp256Val) c.1021A>T c.314-755A>T (n.314-755A>T) c.644A>T (p.Asp215Val) c.386A>T (p.Asp129Val) n.282A>T c.367A>T n.917A>T n.884A>T | |
19 | g.11106638C>A | CA404079911 | LDLR | c.1026C>A (p.Asp342Glu) c.768C>A (p.Asp256Glu) c.1022C>A c.314-754C>A (n.314-754C>A) c.645C>A (p.Asp215Glu) c.387C>A (p.Asp129Glu) n.283C>A c.368C>A n.918C>A n.885C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11106638C= | CA2322768185 | LDLR | c.1026C= (p.Asp342=) c.768C= (p.Asp256=) c.1022C= c.314-754C= (n.314-754C=) c.645C= (p.Asp215=) c.387C= (p.Asp129=) n.283C= c.368C= n.918C= n.885C= | |
19 | g.11106638C>G | CA10585125 | LDLR | c.1026C>G (p.Asp342Glu) c.768C>G (p.Asp256Glu) c.1022C>G c.314-754C>G (n.314-754C>G) c.645C>G (p.Asp215Glu) c.387C>G (p.Asp129Glu) n.283C>G c.368C>G n.918C>G n.885C>G | ClinVar dbSNP |
19 | g.11106638C>T | CA505484949 | LDLR | c.1026C>T (p.Asp342=) c.768C>T (p.Asp256=) c.1022C>T c.314-754C>T (n.314-754C>T) c.645C>T (p.Asp215=) c.387C>T (p.Asp129=) n.283C>T c.368C>T n.918C>T n.885C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106639C>A | CA505484950 | LDLR | c.1027C>A (p.Arg343=) c.769C>A (p.Arg257=) c.1023C>A c.314-753C>A (n.314-753C>A) c.646C>A (p.Arg216=) c.388C>A (p.Arg130=) n.284C>A c.369C>A n.919C>A n.886C>A | |
19 | g.11106639C= | CA2322768186 | LDLR | c.1027C= (p.Arg343=) c.769C= (p.Arg257=) c.1023C= c.314-753C= (n.314-753C=) c.646C= (p.Arg216=) c.388C= (p.Arg130=) n.284C= c.369C= n.919C= n.886C= | |
19 | g.11106639C>G | CA404079917 | LDLR | c.1027C>G (p.Arg343Gly) c.769C>G (p.Arg257Gly) c.1023C>G c.314-753C>G (n.314-753C>G) c.646C>G (p.Arg216Gly) c.388C>G (p.Arg130Gly) n.284C>G c.369C>G n.919C>G n.886C>G | |
19 | g.11106639C>T | CA029314 | LDLR | c.1027C>T (p.Arg343Trp) c.769C>T (p.Arg257Trp) c.1023C>T c.314-753C>T (n.314-753C>T) c.646C>T (p.Arg216Trp) c.388C>T (p.Arg130Trp) n.284C>T c.369C>T n.919C>T n.886C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11106639_11106640delinsCG | CA2322768187 | LDLR | c.1027_1028delinsCG (p.Arg343=) c.769_770delinsCG (p.Arg257=) c.1023_1024delinsCG c.314-753_314-752delinsCG (n.314-753_314-752delinsCG) c.646_647delinsCG (p.Arg216=) c.388_389delinsCG (p.Arg130=) n.284_285delinsCG c.369_370delinsCG n.919_920delinsCG n.886_887delinsCG | |
19 | g.11106640G>A | CA029330 | LDLR | c.1028G>A (p.Arg343Gln) c.770G>A (p.Arg257Gln) c.1024G>A c.314-752G>A (n.314-752G>A) c.647G>A (p.Arg216Gln) c.389G>A (p.Arg130Gln) n.285G>A c.370G>A n.920G>A n.887G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106640G>C | CA404079930 | LDLR | c.1028G>C (p.Arg343Pro) c.770G>C (p.Arg257Pro) c.1024G>C c.314-752G>C (n.314-752G>C) c.647G>C (p.Arg216Pro) c.389G>C (p.Arg130Pro) n.285G>C c.370G>C n.920G>C n.887G>C | ClinVar dbSNP |
19 | g.11106640G= | CA2322768188 | LDLR | c.1028G= (p.Arg343=) c.770G= (p.Arg257=) c.1024G= c.314-752G= (n.314-752G=) c.647G= (p.Arg216=) c.389G= (p.Arg130=) n.285G= c.370G= n.920G= n.887G= | |
19 | g.11106640G>T | CA10585126 | LDLR | c.1028G>T (p.Arg343Leu) c.770G>T (p.Arg257Leu) c.1024G>T c.314-752G>T (n.314-752G>T) c.647G>T (p.Arg216Leu) c.389G>T (p.Arg130Leu) n.285G>T c.370G>T n.920G>T n.887G>T | ClinVar dbSNP |
19 | g.11106640_11106641delinsAC | CA023759 | LDLR | c.1028_1029delinsAC (p.Arg343His) c.770_771delinsAC (p.Arg257His) c.1024_1025delinsAC c.314-752_314-751delinsAC (n.314-752_314-751delinsAC) c.647_648delinsAC (p.Arg216His) c.389_390delinsAC (p.Arg130His) n.285_286delinsAC c.370_371delinsAC n.920_921delinsAC n.887_888delinsAC | ClinVar dbSNP |
19 | g.11106640_11106641delinsGG | CA2322768189 | LDLR | c.1028_1029delinsGG (p.Arg343=) c.770_771delinsGG (p.Arg257=) c.1024_1025delinsGG c.314-752_314-751delinsGG (n.314-752_314-751delinsGG) c.647_648delinsGG (p.Arg216=) c.389_390delinsGG (p.Arg130=) n.285_286delinsGG c.370_371delinsGG n.920_921delinsGG n.887_888delinsGG | |
19 | g.11106642del | CA913191017 | LDLR | c.1030del (p.Glu344AsnfsTer7) c.772del (p.Glu258AsnfsTer7) c.1026del c.314-750del (n.314-750del) c.649del (p.Glu217AsnfsTer7) c.391del (p.Glu131AsnfsTer7) n.287del c.372del n.922del n.889del | ClinVar dbSNP |
19 | g.11106641G>A | CA505484951 | LDLR | c.1029G>A (p.Arg343=) c.771G>A (p.Arg257=) c.1025G>A c.314-751G>A (n.314-751G>A) c.648G>A (p.Arg216=) c.390G>A (p.Arg130=) n.286G>A c.371G>A n.921G>A n.888G>A | |
19 | g.11106641G>C | CA505484952 | LDLR | c.1029G>C (p.Arg343=) c.771G>C (p.Arg257=) c.1025G>C c.314-751G>C (n.314-751G>C) c.648G>C (p.Arg216=) c.390G>C (p.Arg130=) n.286G>C c.371G>C n.921G>C n.888G>C | |
19 | g.11106641G>T | CA505484953 | LDLR | c.1029G>T (p.Arg343=) c.771G>T (p.Arg257=) c.1025G>T c.314-751G>T (n.314-751G>T) c.648G>T (p.Arg216=) c.390G>T (p.Arg130=) n.286G>T c.371G>T n.921G>T n.888G>T | |
19 | g.11106642G>A | CA10585127 | LDLR | c.1030G>A (p.Glu344Lys) c.772G>A (p.Glu258Lys) c.1026G>A c.314-750G>A (n.314-750G>A) c.649G>A (p.Glu217Lys) c.391G>A (p.Glu131Lys) n.287G>A c.372G>A n.922G>A n.889G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11106642G>C | CA404079935 | LDLR | c.1030G>C (p.Glu344Gln) c.772G>C (p.Glu258Gln) c.1026G>C c.314-750G>C (n.314-750G>C) c.649G>C (p.Glu217Gln) c.391G>C (p.Glu131Gln) n.287G>C c.372G>C n.922G>C n.889G>C | |
19 | g.11106642G= | CA2322768190 | LDLR | c.1030G= (p.Glu344=) c.772G= (p.Glu258=) c.1026G= c.314-750G= (n.314-750G=) c.649G= (p.Glu217=) c.391G= (p.Glu131=) n.287G= c.372G= n.922G= n.889G= | |
19 | g.11106642G>T | CA10585128 | LDLR | c.1030G>T (p.Glu344Ter) c.772G>T (p.Glu258Ter) c.1026G>T c.314-750G>T (n.314-750G>T) c.649G>T (p.Glu217Ter) c.391G>T (p.Glu131Ter) n.287G>T c.372G>T n.922G>T n.889G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106643A>C | CA404079945 | LDLR | c.1031A>C (p.Glu344Ala) c.773A>C (p.Glu258Ala) c.1027A>C c.314-749A>C (n.314-749A>C) c.650A>C (p.Glu217Ala) c.392A>C (p.Glu131Ala) n.288A>C c.373A>C n.923A>C n.890A>C | gnomAD v4 |
19 | g.11106643A>G | CA404079948 | LDLR | c.1031A>G (p.Glu344Gly) c.773A>G (p.Glu258Gly) c.1027A>G c.314-749A>G (n.314-749A>G) c.650A>G (p.Glu217Gly) c.392A>G (p.Glu131Gly) n.288A>G c.373A>G n.923A>G n.890A>G | |
19 | g.11106643A>T | CA404079949 | LDLR | c.1031A>T (p.Glu344Val) c.773A>T (p.Glu258Val) c.1027A>T c.314-749A>T (n.314-749A>T) c.650A>T (p.Glu217Val) c.392A>T (p.Glu131Val) n.288A>T c.373A>T n.923A>T n.890A>T | |
19 | g.11106643_11106645delinsAAT | CA2322768191 | LDLR | c.1031_1033delinsAAT (p.Glu344=) c.773_775delinsAAT (p.Glu258=) c.1027_1029delinsAAT c.314-749_314-747delinsAAT (n.314-749_314-747delinsAAT) c.650_652delinsAAT (p.Glu217=) c.392_394delinsAAT (p.Glu131=) n.288_290delinsAAT c.373_375delinsAAT n.923_925delinsAAT n.890_892delinsAAT | |
19 | g.11106644A= | CA2322768192 | LDLR | c.1032A= (p.Glu344=) c.774A= (p.Glu258=) c.1028A= c.314-748A= (n.314-748A=) c.651A= (p.Glu217=) c.393A= (p.Glu131=) n.289A= c.374A= n.924A= n.891A= | |
19 | g.11106644A>C | CA404079954 | LDLR | c.1032A>C (p.Glu344Asp) c.774A>C (p.Glu258Asp) c.1028A>C c.314-748A>C (n.314-748A>C) c.651A>C (p.Glu217Asp) c.393A>C (p.Glu131Asp) n.289A>C c.374A>C n.924A>C n.891A>C | gnomAD v4 |
19 | g.11106644A>G | CA505484954 | LDLR | c.1032A>G (p.Glu344=) c.774A>G (p.Glu258=) c.1028A>G c.314-748A>G (n.314-748A>G) c.651A>G (p.Glu217=) c.393A>G (p.Glu131=) n.289A>G c.374A>G n.924A>G n.891A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106644A>T | CA404079963 | LDLR | c.1032A>T (p.Glu344Asp) c.774A>T (p.Glu258Asp) c.1028A>T c.314-748A>T (n.314-748A>T) c.651A>T (p.Glu217Asp) c.393A>T (p.Glu131Asp) n.289A>T c.374A>T n.924A>T n.891A>T | |
19 | g.11106646_11106647del | CA10585129 | LDLR | c.1034_1035del (p.Tyr345Ter) c.776_777del (p.Tyr259Ter) c.1030_1031del c.314-746_314-745del (n.314-746_314-745del) c.653_654del (p.Tyr218Ter) c.395_396del (p.Tyr132Ter) n.291_292del c.376_377del n.926_927del n.893_894del | ClinVar dbSNP |
19 | g.11106645T>A | CA404079968 | LDLR | c.1033T>A (p.Tyr345Asn) c.775T>A (p.Tyr259Asn) c.1029T>A c.314-747T>A (n.314-747T>A) c.652T>A (p.Tyr218Asn) c.394T>A (p.Tyr132Asn) n.290T>A c.375T>A n.925T>A n.892T>A | |
19 | g.11106645T>C | CA404079973 | LDLR | c.1033T>C (p.Tyr345His) c.775T>C (p.Tyr259His) c.1029T>C c.314-747T>C (n.314-747T>C) c.652T>C (p.Tyr218His) c.394T>C (p.Tyr132His) n.290T>C c.375T>C n.925T>C n.892T>C | |
19 | g.11106645T>G | CA404079975 | LDLR | c.1033T>G (p.Tyr345Asp) c.775T>G (p.Tyr259Asp) c.1029T>G c.314-747T>G (n.314-747T>G) c.652T>G (p.Tyr218Asp) c.394T>G (p.Tyr132Asp) n.290T>G c.375T>G n.925T>G n.892T>G | |
19 | g.11106646A= | CA2322768194 | LDLR | c.1034A= (p.Tyr345=) c.776A= (p.Tyr259=) c.1030A= c.314-746A= (n.314-746A=) c.653A= (p.Tyr218=) c.395A= (p.Tyr132=) n.291A= c.376A= n.926A= n.893A= | |
19 | g.11106646A>C | CA404079979 | LDLR | c.1034A>C (p.Tyr345Ser) c.776A>C (p.Tyr259Ser) c.1030A>C c.314-746A>C (n.314-746A>C) c.653A>C (p.Tyr218Ser) c.395A>C (p.Tyr132Ser) n.291A>C c.376A>C n.926A>C n.893A>C | ClinVar dbSNP |
19 | g.11106646A>G | CA404079981 | LDLR | c.1034A>G (p.Tyr345Cys) c.776A>G (p.Tyr259Cys) c.1030A>G c.314-746A>G (n.314-746A>G) c.653A>G (p.Tyr218Cys) c.395A>G (p.Tyr132Cys) n.291A>G c.376A>G n.926A>G n.893A>G | dbSNP gnomAD v4 |
19 | g.11106646A>T | CA404079984 | LDLR | c.1034A>T (p.Tyr345Phe) c.776A>T (p.Tyr259Phe) c.1030A>T c.314-746A>T (n.314-746A>T) c.653A>T (p.Tyr218Phe) c.395A>T (p.Tyr132Phe) n.291A>T c.376A>T n.926A>T n.893A>T | |
19 | g.11106646_11106650delinsATGAC | CA2322768193 | LDLR | c.1034_1038delinsATGAC (p.Tyr345=) c.776_780delinsATGAC (p.Tyr259=) c.1030_1034delinsATGAC c.314-746_314-742delinsATGAC (n.314-746_314-742delinsATGAC) c.653_657delinsATGAC (p.Tyr218=) c.395_399delinsATGAC (p.Tyr132=) n.291_295delinsATGAC c.376_380delinsATGAC n.926_930delinsATGAC n.893_897delinsATGAC | |
19 | g.11106650_11106663del | CA2695195459 | LDLR | c.1038_1051del (p.Asp346GlufsTer3) c.780_793del (p.Asp260GlufsTer3) c.1034_1047del c.314-742_314-729del (n.314-742_314-729del) c.657_670del (p.Asp219GlufsTer3) c.399_412del (p.Asp133GlufsTer3) n.295_308del c.380_393del n.930_943del n.897_910del | |
19 | g.11106647T>A | CA404079986 | LDLR | c.1035T>A (p.Tyr345Ter) c.777T>A (p.Tyr259Ter) c.1031T>A c.314-745T>A (n.314-745T>A) c.654T>A (p.Tyr218Ter) c.396T>A (p.Tyr132Ter) n.292T>A c.377T>A n.927T>A n.894T>A | |
19 | g.11106647T>C | CA505484955 | LDLR | c.1035T>C (p.Tyr345=) c.777T>C (p.Tyr259=) c.1031T>C c.314-745T>C (n.314-745T>C) c.654T>C (p.Tyr218=) c.396T>C (p.Tyr132=) n.292T>C c.377T>C n.927T>C n.894T>C | |
19 | g.11106647T>G | CA404079987 | LDLR | c.1035T>G (p.Tyr345Ter) c.777T>G (p.Tyr259Ter) c.1031T>G c.314-745T>G (n.314-745T>G) c.654T>G (p.Tyr218Ter) c.396T>G (p.Tyr132Ter) n.292T>G c.377T>G n.927T>G n.894T>G | ClinVar dbSNP |
19 | g.11106649_11106652del | CA915951652 | LDLR | c.1037_1040del (p.Asp346AlafsTer4) c.779_782del (p.Asp260AlafsTer4) c.1033_1036del c.314-743_314-740del (n.314-743_314-740del) c.656_659del (p.Asp219AlafsTer4) c.398_401del (p.Asp133AlafsTer4) n.294_297del c.379_382del n.929_932del n.896_899del | ClinVar dbSNP |
19 | g.11106648G>A | CA404079991 | LDLR | c.1036G>A (p.Asp346Asn) c.778G>A (p.Asp260Asn) c.1032G>A c.314-744G>A (n.314-744G>A) c.655G>A (p.Asp219Asn) c.397G>A (p.Asp133Asn) n.293G>A c.378G>A n.928G>A n.895G>A | |
19 | g.11106648G>C | CA404079993 | LDLR | c.1036G>C (p.Asp346His) c.778G>C (p.Asp260His) c.1032G>C c.314-744G>C (n.314-744G>C) c.655G>C (p.Asp219His) c.397G>C (p.Asp133His) n.293G>C c.378G>C n.928G>C n.895G>C | |
19 | g.11106648G>T | CA404079999 | LDLR | c.1036G>T (p.Asp346Tyr) c.778G>T (p.Asp260Tyr) c.1032G>T c.314-744G>T (n.314-744G>T) c.655G>T (p.Asp219Tyr) c.397G>T (p.Asp133Tyr) n.293G>T c.378G>T n.928G>T n.895G>T | gnomAD v4 |
19 | g.11106649A= | CA2322768195 | LDLR | c.1037A= (p.Asp346=) c.779A= (p.Asp260=) c.1033A= c.314-743A= (n.314-743A=) c.656A= (p.Asp219=) c.398A= (p.Asp133=) n.294A= c.379A= n.929A= n.896A= | |
19 | g.11106649A>C | CA404080001 | LDLR | c.1037A>C (p.Asp346Ala) c.779A>C (p.Asp260Ala) c.1033A>C c.314-743A>C (n.314-743A>C) c.656A>C (p.Asp219Ala) c.398A>C (p.Asp133Ala) n.294A>C c.379A>C n.929A>C n.896A>C | |
19 | g.11106649A>G | CA404080003 | LDLR | c.1037A>G (p.Asp346Gly) c.779A>G (p.Asp260Gly) c.1033A>G c.314-743A>G (n.314-743A>G) c.656A>G (p.Asp219Gly) c.398A>G (p.Asp133Gly) n.294A>G c.379A>G n.929A>G n.896A>G | ClinVar dbSNP |
19 | g.11106649A>T | CA404080002 | LDLR | c.1037A>T (p.Asp346Val) c.779A>T (p.Asp260Val) c.1033A>T c.314-743A>T (n.314-743A>T) c.656A>T (p.Asp219Val) c.398A>T (p.Asp133Val) n.294A>T c.379A>T n.929A>T n.896A>T | |
19 | g.11106650C>A | CA404080004 | LDLR | c.1038C>A (p.Asp346Glu) c.780C>A (p.Asp260Glu) c.1034C>A c.314-742C>A (n.314-742C>A) c.657C>A (p.Asp219Glu) c.399C>A (p.Asp133Glu) n.295C>A c.380C>A n.930C>A n.897C>A | ClinVar dbSNP |
19 | g.11106650C= | CA2322768196 | LDLR | c.1038C= (p.Asp346=) c.780C= (p.Asp260=) c.1034C= c.314-742C= (n.314-742C=) c.657C= (p.Asp219=) c.399C= (p.Asp133=) n.295C= c.380C= n.930C= n.897C= | |
19 | g.11106650C>G | CA404080005 | LDLR | c.1038C>G (p.Asp346Glu) c.780C>G (p.Asp260Glu) c.1034C>G c.314-742C>G (n.314-742C>G) c.657C>G (p.Asp219Glu) c.399C>G (p.Asp133Glu) n.295C>G c.380C>G n.930C>G n.897C>G | dbSNP |
19 | g.11106650C>T | CA505484956 | LDLR | c.1038C>T (p.Asp346=) c.780C>T (p.Asp260=) c.1034C>T c.314-742C>T (n.314-742C>T) c.657C>T (p.Asp219=) c.399C>T (p.Asp133=) n.295C>T c.380C>T n.930C>T n.897C>T | ClinVar |
19 | g.11106650_11106651delinsCT | CA2322768197 | LDLR | c.1038_1039delinsCT (p.Asp346=) c.780_781delinsCT (p.Asp260=) c.1034_1035delinsCT c.314-742_314-741delinsCT (n.314-742_314-741delinsCT) c.657_658delinsCT (p.Asp219=) c.399_400delinsCT (p.Asp133=) n.295_296delinsCT c.380_381delinsCT n.930_931delinsCT n.897_898delinsCT | |
19 | g.11106651del | CA10585130 | LDLR | c.1039del (p.Cys347AlafsTer4) c.781del (p.Cys261AlafsTer4) c.1035del c.314-741del (n.314-741del) c.658del (p.Cys220AlafsTer4) c.400del (p.Cys134AlafsTer4) n.296del c.381del n.931del n.898del | ClinVar dbSNP |
19 | g.11106651T>A | CA404080006 | LDLR | c.1039T>A (p.Cys347Ser) c.781T>A (p.Cys261Ser) c.1035T>A c.314-741T>A (n.314-741T>A) c.658T>A (p.Cys220Ser) c.400T>A (p.Cys134Ser) n.296T>A c.381T>A n.931T>A n.898T>A | ClinVar dbSNP |
19 | g.11106651T>C | CA404080008 | LDLR | c.1039T>C (p.Cys347Arg) c.781T>C (p.Cys261Arg) c.1035T>C c.314-741T>C (n.314-741T>C) c.658T>C (p.Cys220Arg) c.400T>C (p.Cys134Arg) n.296T>C c.381T>C n.931T>C n.898T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106651T>G | CA404080020 | LDLR | c.1039T>G (p.Cys347Gly) c.781T>G (p.Cys261Gly) c.1035T>G c.314-741T>G (n.314-741T>G) c.658T>G (p.Cys220Gly) c.400T>G (p.Cys134Gly) n.296T>G c.381T>G n.931T>G n.898T>G | |
19 | g.11106651T= | CA2322768198 | LDLR | c.1039T= (p.Cys347=) c.781T= (p.Cys261=) c.1035T= c.314-741T= (n.314-741T=) c.658T= (p.Cys220=) c.400T= (p.Cys134=) n.296T= c.381T= n.931T= n.898T= | |
19 | g.11106652G>A | CA16602315 | LDLR | c.1040G>A (p.Cys347Tyr) c.782G>A (p.Cys261Tyr) c.1036G>A c.314-740G>A (n.314-740G>A) c.659G>A (p.Cys220Tyr) c.401G>A (p.Cys134Tyr) n.297G>A c.382G>A n.932G>A n.899G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11106652G>C | CA404080025 | LDLR | c.1040G>C (p.Cys347Ser) c.782G>C (p.Cys261Ser) c.1036G>C c.314-740G>C (n.314-740G>C) c.659G>C (p.Cys220Ser) c.401G>C (p.Cys134Ser) n.297G>C c.382G>C n.932G>C n.899G>C | |
19 | g.11106652G= | CA2322768199 | LDLR | c.1040G= (p.Cys347=) c.782G= (p.Cys261=) c.1036G= c.314-740G= (n.314-740G=) c.659G= (p.Cys220=) c.401G= (p.Cys134=) n.297G= c.382G= n.932G= n.899G= | |
19 | g.11106652G>T | CA023761 | LDLR | c.1040G>T (p.Cys347Phe) c.782G>T (p.Cys261Phe) c.1036G>T c.314-740G>T (n.314-740G>T) c.659G>T (p.Cys220Phe) c.401G>T (p.Cys134Phe) n.297G>T c.382G>T n.932G>T n.899G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106653C>A | CA16602316 | LDLR | c.1041C>A (p.Cys347Ter) c.783C>A (p.Cys261Ter) c.1037C>A c.314-739C>A (n.314-739C>A) c.660C>A (p.Cys220Ter) c.402C>A (p.Cys134Ter) n.298C>A c.383C>A n.933C>A n.900C>A | ClinVar dbSNP |
19 | g.11106653C= | CA2322768200 | LDLR | c.1041C= (p.Cys347=) c.783C= (p.Cys261=) c.1037C= c.314-739C= (n.314-739C=) c.660C= (p.Cys220=) c.402C= (p.Cys134=) n.298C= c.383C= n.933C= n.900C= | |
19 | g.11106653C>G | CA404080030 | LDLR | c.1041C>G (p.Cys347Trp) c.783C>G (p.Cys261Trp) c.1037C>G c.314-739C>G (n.314-739C>G) c.660C>G (p.Cys220Trp) c.402C>G (p.Cys134Trp) n.298C>G c.383C>G n.933C>G n.900C>G | |
19 | g.11106653C>T | CA505484957 | LDLR | c.1041C>T (p.Cys347=) c.783C>T (p.Cys261=) c.1037C>T c.314-739C>T (n.314-739C>T) c.660C>T (p.Cys220=) c.402C>T (p.Cys134=) n.298C>T c.383C>T n.933C>T n.900C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106654A>C | CA404080034 | LDLR | c.1042A>C (p.Lys348Gln) c.784A>C (p.Lys262Gln) c.1038A>C c.314-738A>C (n.314-738A>C) c.661A>C (p.Lys221Gln) c.403A>C (p.Lys135Gln) n.299A>C c.384A>C n.934A>C n.901A>C | |
19 | g.11106654A>G | CA404080037 | LDLR | c.1042A>G (p.Lys348Glu) c.784A>G (p.Lys262Glu) c.1038A>G c.314-738A>G (n.314-738A>G) c.661A>G (p.Lys221Glu) c.403A>G (p.Lys135Glu) n.299A>G c.384A>G n.934A>G n.901A>G | |
19 | g.11106654A>T | CA404080040 | LDLR | c.1042A>T (p.Lys348Ter) c.784A>T (p.Lys262Ter) c.1038A>T c.314-738A>T (n.314-738A>T) c.661A>T (p.Lys221Ter) c.403A>T (p.Lys135Ter) n.299A>T c.384A>T n.934A>T n.901A>T | |
19 | g.11106655A>C | CA404080050 | LDLR | c.1043A>C (p.Lys348Thr) c.785A>C (p.Lys262Thr) c.1039A>C c.314-737A>C (n.314-737A>C) c.662A>C (p.Lys221Thr) c.404A>C (p.Lys135Thr) n.300A>C c.385A>C n.935A>C n.902A>C | |
19 | g.11106655A>G | CA404080044 | LDLR | c.1043A>G (p.Lys348Arg) c.785A>G (p.Lys262Arg) c.1039A>G c.314-737A>G (n.314-737A>G) c.662A>G (p.Lys221Arg) c.404A>G (p.Lys135Arg) n.300A>G c.385A>G n.935A>G n.902A>G | |
19 | g.11106655A>T | CA404080047 | LDLR | c.1043A>T (p.Lys348Met) c.785A>T (p.Lys262Met) c.1039A>T c.314-737A>T (n.314-737A>T) c.662A>T (p.Lys221Met) c.404A>T (p.Lys135Met) n.300A>T c.385A>T n.935A>T n.902A>T | |
19 | g.11106656G>A | CA505484958 | LDLR | c.1044G>A (p.Lys348=) c.786G>A (p.Lys262=) c.1040G>A c.314-736G>A (n.314-736G>A) c.663G>A (p.Lys221=) c.405G>A (p.Lys135=) n.301G>A c.386G>A n.936G>A n.903G>A | COSMIC |
19 | g.11106656G>C | CA404080055 | LDLR | c.1044G>C (p.Lys348Asn) c.786G>C (p.Lys262Asn) c.1040G>C c.314-736G>C (n.314-736G>C) c.663G>C (p.Lys221Asn) c.405G>C (p.Lys135Asn) n.301G>C c.386G>C n.936G>C n.903G>C | |
19 | g.11106656G>T | CA404080057 | LDLR | c.1044G>T (p.Lys348Asn) c.786G>T (p.Lys262Asn) c.1040G>T c.314-736G>T (n.314-736G>T) c.663G>T (p.Lys221Asn) c.405G>T (p.Lys135Asn) n.301G>T c.386G>T n.936G>T n.903G>T | gnomAD v4 |
19 | g.11106657G>A | CA029359 | LDLR | c.1045G>A (p.Asp349Asn) c.787G>A (p.Asp263Asn) c.1041G>A c.314-735G>A (n.314-735G>A) c.664G>A (p.Asp222Asn) c.406G>A (p.Asp136Asn) n.302G>A c.387G>A n.937G>A n.904G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106657G>C | CA404080062 | LDLR | c.1045G>C (p.Asp349His) c.787G>C (p.Asp263His) c.1041G>C c.314-735G>C (n.314-735G>C) c.664G>C (p.Asp222His) c.406G>C (p.Asp136His) n.302G>C c.387G>C n.937G>C n.904G>C | |
19 | g.11106657G= | CA2322768201 | LDLR | c.1045G= (p.Asp349=) c.787G= (p.Asp263=) c.1041G= c.314-735G= (n.314-735G=) c.664G= (p.Asp222=) c.406G= (p.Asp136=) n.302G= c.387G= n.937G= n.904G= | |
19 | g.11106657G>T | CA404080066 | LDLR | c.1045G>T (p.Asp349Tyr) c.787G>T (p.Asp263Tyr) c.1041G>T c.314-735G>T (n.314-735G>T) c.664G>T (p.Asp222Tyr) c.406G>T (p.Asp136Tyr) n.302G>T c.387G>T n.937G>T n.904G>T | ClinVar |
19 | g.11106658A= | CA2322768202 | LDLR | c.1046A= (p.Asp349=) c.788A= (p.Asp263=) c.1042A= c.314-734A= (n.314-734A=) c.665A= (p.Asp222=) c.407A= (p.Asp136=) n.303A= c.388A= n.938A= n.905A= | |
19 | g.11106658A>C | CA404080071 | LDLR | c.1046A>C (p.Asp349Ala) c.788A>C (p.Asp263Ala) c.1042A>C c.314-734A>C (n.314-734A>C) c.665A>C (p.Asp222Ala) c.407A>C (p.Asp136Ala) n.303A>C c.388A>C n.938A>C n.905A>C | |
19 | g.11106658A>G | CA305298382 | LDLR | c.1046A>G (p.Asp349Gly) c.788A>G (p.Asp263Gly) c.1042A>G c.314-734A>G (n.314-734A>G) c.665A>G (p.Asp222Gly) c.407A>G (p.Asp136Gly) n.303A>G c.388A>G n.938A>G n.905A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106658A>T | CA404080074 | LDLR | c.1046A>T (p.Asp349Val) c.788A>T (p.Asp263Val) c.1042A>T c.314-734A>T (n.314-734A>T) c.665A>T (p.Asp222Val) c.407A>T (p.Asp136Val) n.303A>T c.388A>T n.938A>T n.905A>T | |
19 | g.11106659C>A | CA404080075 | LDLR | c.1047C>A (p.Asp349Glu) c.789C>A (p.Asp263Glu) c.1043C>A c.314-733C>A (n.314-733C>A) c.666C>A (p.Asp222Glu) c.408C>A (p.Asp136Glu) n.304C>A c.389C>A n.939C>A n.906C>A | |
19 | g.11106659C= | CA2322768204 | LDLR | c.1047C= (p.Asp349=) c.789C= (p.Asp263=) c.1043C= c.314-733C= (n.314-733C=) c.666C= (p.Asp222=) c.408C= (p.Asp136=) n.304C= c.389C= n.939C= n.906C= | |
19 | g.11106659C>G | CA404080077 | LDLR | c.1047C>G (p.Asp349Glu) c.789C>G (p.Asp263Glu) c.1043C>G c.314-733C>G (n.314-733C>G) c.666C>G (p.Asp222Glu) c.408C>G (p.Asp136Glu) n.304C>G c.389C>G n.939C>G n.906C>G | |
19 | g.11106659C>T | CA505484959 | LDLR | c.1047C>T (p.Asp349=) c.789C>T (p.Asp263=) c.1043C>T c.314-733C>T (n.314-733C>T) c.666C>T (p.Asp222=) c.408C>T (p.Asp136=) n.304C>T c.389C>T n.939C>T n.906C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106659dup | CA2497030138 | LDLR | c.1047dup (p.Met350HisfsTer4) c.789dup (p.Met264HisfsTer4) c.1043dup c.314-733dup (n.314-733dup) c.666dup (p.Met223HisfsTer4) c.408dup (p.Met137HisfsTer4) n.304dup c.389dup n.939dup n.906dup | |
19 | g.11106659_11106663delinsCATGA | CA2322768203 | LDLR | c.1047_1051delinsCATGA (p.Asp349=) c.789_793delinsCATGA (p.Asp263=) c.1043_1047delinsCATGA c.314-733_314-729delinsCATGA (n.314-733_314-729delinsCATGA) c.666_670delinsCATGA (p.Asp222=) c.408_412delinsCATGA (p.Asp136=) n.304_308delinsCATGA c.389_393delinsCATGA n.939_943delinsCATGA n.906_910delinsCATGA | |
19 | g.11106660A= | CA2322768206 | LDLR | c.1048A= (p.Met350=) c.790A= (p.Met264=) c.1044A= c.314-732A= (n.314-732A=) c.667A= (p.Met223=) c.409A= (p.Met137=) n.305A= c.390A= n.940A= n.907A= | |
19 | g.11106660A>C | CA023763 | LDLR | c.1048A>C (p.Met350Leu) c.790A>C (p.Met264Leu) c.1044A>C c.314-732A>C (n.314-732A>C) c.667A>C (p.Met223Leu) c.409A>C (p.Met137Leu) n.305A>C c.390A>C n.940A>C n.907A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106660A>G | CA10585131 | LDLR | c.1048A>G (p.Met350Val) c.790A>G (p.Met264Val) c.1044A>G c.314-732A>G (n.314-732A>G) c.667A>G (p.Met223Val) c.409A>G (p.Met137Val) n.305A>G c.390A>G n.940A>G n.907A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11106660A>T | CA404080083 | LDLR | c.1048A>T (p.Met350Leu) c.790A>T (p.Met264Leu) c.1044A>T c.314-732A>T (n.314-732A>T) c.667A>T (p.Met223Leu) c.409A>T (p.Met137Leu) n.305A>T c.390A>T n.940A>T n.907A>T | gnomAD v4 |
19 | g.11106660_11106661delinsAT | CA2322768205 | LDLR | c.1048_1049delinsAT (p.Met350=) c.790_791delinsAT (p.Met264=) c.1044_1045delinsAT c.314-732_314-731delinsAT (n.314-732_314-731delinsAT) c.667_668delinsAT (p.Met223=) c.409_410delinsAT (p.Met137=) n.305_306delinsAT c.390_391delinsAT n.940_941delinsAT n.907_908delinsAT | |
19 | g.11106660_11106663del | CA10585132 | LDLR | c.1048_1051del (p.Met350AlafsTer9) c.790_793del (p.Met264AlafsTer9) c.1044_1047del c.314-732_314-729del (n.314-732_314-729del) c.667_670del (p.Met223AlafsTer9) c.409_412del (p.Met137AlafsTer9) n.305_308del c.390_393del n.940_943del n.907_910del | ClinVar dbSNP |
19 | g.11106661_11106663del | CA2573050588 | LDLR | c.1049_1051del (p.Met350del) c.791_793del (p.Met264del) c.1045_1047del c.314-731_314-729del (n.314-731_314-729del) c.668_670del (p.Met223del) c.410_412del (p.Met137del) n.306_308del c.391_393del n.941_943del n.908_910del | |
19 | g.11106661del | CA1139666257 | LDLR | c.1049del (p.Met350ArgfsTer10) c.791del (p.Met264ArgfsTer10) c.1045del c.314-731del (n.314-731del) c.668del (p.Met223ArgfsTer10) c.410del (p.Met137ArgfsTer10) n.306del c.391del n.941del n.908del | ClinVar dbSNP |
19 | g.11106661T>A | CA404080092 | LDLR | c.1049T>A (p.Met350Lys) c.791T>A (p.Met264Lys) c.1045T>A c.314-731T>A (n.314-731T>A) c.668T>A (p.Met223Lys) c.410T>A (p.Met137Lys) n.306T>A c.391T>A n.941T>A n.908T>A | |
19 | g.11106661T>C | CA029390 | LDLR | c.1049T>C (p.Met350Thr) c.791T>C (p.Met264Thr) c.1045T>C c.314-731T>C (n.314-731T>C) c.668T>C (p.Met223Thr) c.410T>C (p.Met137Thr) n.306T>C c.391T>C n.941T>C n.908T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106661T>G | CA404080097 | LDLR | c.1049T>G (p.Met350Arg) c.791T>G (p.Met264Arg) c.1045T>G c.314-731T>G (n.314-731T>G) c.668T>G (p.Met223Arg) c.410T>G (p.Met137Arg) n.306T>G c.391T>G n.941T>G n.908T>G | |
19 | g.11106661T= | CA2322768207 | LDLR | c.1049T= (p.Met350=) c.791T= (p.Met264=) c.1045T= c.314-731T= (n.314-731T=) c.668T= (p.Met223=) c.410T= (p.Met137=) n.306T= c.391T= n.941T= n.908T= | |
19 | g.11106662G>A | CA404080102 | LDLR | c.1050G>A (p.Met350Ile) c.792G>A (p.Met264Ile) c.1046G>A c.314-730G>A (n.314-730G>A) c.669G>A (p.Met223Ile) c.411G>A (p.Met137Ile) n.307G>A c.392G>A n.942G>A n.909G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106662G>C | CA404080105 | LDLR | c.1050G>C (p.Met350Ile) c.792G>C (p.Met264Ile) c.1046G>C c.314-730G>C (n.314-730G>C) c.669G>C (p.Met223Ile) c.411G>C (p.Met137Ile) n.307G>C c.392G>C n.942G>C n.909G>C | |
19 | g.11106662G= | CA2322768208 | LDLR | c.1050G= (p.Met350=) c.792G= (p.Met264=) c.1046G= c.314-730G= (n.314-730G=) c.669G= (p.Met223=) c.411G= (p.Met137=) n.307G= c.392G= n.942G= n.909G= | |
19 | g.11106662G>T | CA404080106 | LDLR | c.1050G>T (p.Met350Ile) c.792G>T (p.Met264Ile) c.1046G>T c.314-730G>T (n.314-730G>T) c.669G>T (p.Met223Ile) c.411G>T (p.Met137Ile) n.307G>T c.392G>T n.942G>T n.909G>T | |
19 | g.11106663A= | CA2322768209 | LDLR | c.1051A= (p.Ser351=) c.793A= (p.Ser265=) c.1047A= c.314-729A= (n.314-729A=) c.670A= (p.Ser224=) c.412A= (p.Ser138=) n.308A= c.393A= n.943A= n.910A= | |
19 | g.11106663A>C | CA404080107 | LDLR | c.1051A>C (p.Ser351Arg) c.793A>C (p.Ser265Arg) c.1047A>C c.314-729A>C (n.314-729A>C) c.670A>C (p.Ser224Arg) c.412A>C (p.Ser138Arg) n.308A>C c.393A>C n.943A>C n.910A>C | |
19 | g.11106663A>G | CA404080109 | LDLR | c.1051A>G (p.Ser351Gly) c.793A>G (p.Ser265Gly) c.1047A>G c.314-729A>G (n.314-729A>G) c.670A>G (p.Ser224Gly) c.412A>G (p.Ser138Gly) n.308A>G c.393A>G n.943A>G n.910A>G | |
19 | g.11106663A>T | CA10585133 | LDLR | c.1051A>T (p.Ser351Cys) c.793A>T (p.Ser265Cys) c.1047A>T c.314-729A>T (n.314-729A>T) c.670A>T (p.Ser224Cys) c.412A>T (p.Ser138Cys) n.308A>T c.393A>T n.943A>T n.910A>T | ClinVar dbSNP |
19 | g.11106664G>A | CA404080115 | LDLR | c.1052G>A (p.Ser351Asn) c.794G>A (p.Ser265Asn) c.1048G>A c.314-728G>A (n.314-728G>A) c.671G>A (p.Ser224Asn) c.413G>A (p.Ser138Asn) n.309G>A c.394G>A n.944G>A n.911G>A | gnomAD v4 |
19 | g.11106664G>C | CA404080118 | LDLR | c.1052G>C (p.Ser351Thr) c.794G>C (p.Ser265Thr) c.1048G>C c.314-728G>C (n.314-728G>C) c.671G>C (p.Ser224Thr) c.413G>C (p.Ser138Thr) n.309G>C c.394G>C n.944G>C n.911G>C | |
19 | g.11106664G>T | CA404080123 | LDLR | c.1052G>T (p.Ser351Ile) c.794G>T (p.Ser265Ile) c.1048G>T c.314-728G>T (n.314-728G>T) c.671G>T (p.Ser224Ile) c.413G>T (p.Ser138Ile) n.309G>T c.394G>T n.944G>T n.911G>T | |
19 | g.11106665C>A | CA404080125 | LDLR | c.1053C>A (p.Ser351Arg) c.795C>A (p.Ser265Arg) c.1049C>A c.314-727C>A (n.314-727C>A) c.672C>A (p.Ser224Arg) c.414C>A (p.Ser138Arg) n.310C>A c.395C>A n.945C>A n.912C>A | |
19 | g.11106665C= | CA2322768210 | LDLR | c.1053C= (p.Ser351=) c.795C= (p.Ser265=) c.1049C= c.314-727C= (n.314-727C=) c.672C= (p.Ser224=) c.414C= (p.Ser138=) n.310C= c.395C= n.945C= n.912C= | |
19 | g.11106665C>G | CA404080124 | LDLR | c.1053C>G (p.Ser351Arg) c.795C>G (p.Ser265Arg) c.1049C>G c.314-727C>G (n.314-727C>G) c.672C>G (p.Ser224Arg) c.414C>G (p.Ser138Arg) n.310C>G c.395C>G n.945C>G n.912C>G | |
19 | g.11106665C>T | CA029404 | LDLR | c.1053C>T (p.Ser351=) c.795C>T (p.Ser265=) c.1049C>T c.314-727C>T (n.314-727C>T) c.672C>T (p.Ser224=) c.414C>T (p.Ser138=) n.310C>T c.395C>T n.945C>T n.912C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106665_11106669delinsCGATG | CA2322768212 | LDLR | c.1053_1057delinsCGATG (p.Ser351=) c.795_799delinsCGATG (p.Ser265=) c.1049_1053delinsCGATG c.314-727_314-723delinsCGATG (n.314-727_314-723delinsCGATG) c.672_676delinsCGATG (p.Ser224=) c.414_418delinsCGATG (p.Ser138=) n.310_314delinsCGATG c.395_399delinsCGATG n.945_949delinsCGATG n.912_916delinsCGATG | |
19 | g.11106665_11106670delinsCGATGA | CA2322768211 | LDLR | c.1053_1058delinsCGATGA (p.Ser351=) c.795_800delinsCGATGA (p.Ser265=) c.1049_1054delinsCGATGA c.314-727_314-722delinsCGATGA (n.314-727_314-722delinsCGATGA) c.672_677delinsCGATGA (p.Ser224=) c.414_419delinsCGATGA (p.Ser138=) n.310_315delinsCGATGA c.395_400delinsCGATGA n.945_950delinsCGATGA n.912_917delinsCGATGA | |
19 | g.11106666G>A | CA10576288 | LDLR | c.1054G>A (p.Asp352Asn) c.796G>A (p.Asp266Asn) c.1050G>A c.314-726G>A (n.314-726G>A) c.673G>A (p.Asp225Asn) c.415G>A (p.Asp139Asn) n.311G>A c.396G>A n.946G>A n.913G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106666G>C | CA404080132 | LDLR | c.1054G>C (p.Asp352His) c.796G>C (p.Asp266His) c.1050G>C c.314-726G>C (n.314-726G>C) c.673G>C (p.Asp225His) c.415G>C (p.Asp139His) n.311G>C c.396G>C n.946G>C n.913G>C | ClinVar gnomAD v4 |
19 | g.11106666G= | CA2322768213 | LDLR | c.1054G= (p.Asp352=) c.796G= (p.Asp266=) c.1050G= c.314-726G= (n.314-726G=) c.673G= (p.Asp225=) c.415G= (p.Asp139=) n.311G= c.396G= n.946G= n.913G= | |
19 | g.11106666G>T | CA10585134 | LDLR | c.1054G>T (p.Asp352Tyr) c.796G>T (p.Asp266Tyr) c.1050G>T c.314-726G>T (n.314-726G>T) c.673G>T (p.Asp225Tyr) c.415G>T (p.Asp139Tyr) n.311G>T c.396G>T n.946G>T n.913G>T | ClinVar dbSNP |
19 | g.11106666_11106669del | CA10585135 | LDLR | c.1054_1057del (p.Asp352LysfsTer7) c.796_799del (p.Asp266LysfsTer7) c.1050_1053del c.314-726_314-723del (n.314-726_314-723del) c.673_676del (p.Asp225LysfsTer7) c.415_418del (p.Asp139LysfsTer7) n.311_314del c.396_399del n.946_949del n.913_916del | ClinVar dbSNP |
19 | g.11106666_11106670del | CA645509268 | LDLR | c.1054_1058del (p.Asp352SerfsTer5) c.796_800del (p.Asp266SerfsTer5) c.1050_1054del c.314-726_314-722del (n.314-726_314-722del) c.673_677del (p.Asp225SerfsTer5) c.415_419del (p.Asp139SerfsTer5) n.311_315del c.396_400del n.946_950del n.913_917del | ClinVar dbSNP |
19 | g.11106667A= | CA2322768214 | LDLR | c.1055A= (p.Asp352=) c.797A= (p.Asp266=) c.1051A= c.314-725A= (n.314-725A=) c.674A= (p.Asp225=) c.416A= (p.Asp139=) n.312A= c.397A= n.947A= n.914A= | |
19 | g.11106667A>C | CA404080138 | LDLR | c.1055A>C (p.Asp352Ala) c.797A>C (p.Asp266Ala) c.1051A>C c.314-725A>C (n.314-725A>C) c.674A>C (p.Asp225Ala) c.416A>C (p.Asp139Ala) n.312A>C c.397A>C n.947A>C n.914A>C | |
19 | g.11106667A>G | CA10585136 | LDLR | c.1055A>G (p.Asp352Gly) c.797A>G (p.Asp266Gly) c.1051A>G c.314-725A>G (n.314-725A>G) c.674A>G (p.Asp225Gly) c.416A>G (p.Asp139Gly) n.312A>G c.397A>G n.947A>G n.914A>G | ClinVar dbSNP |
19 | g.11106667A>T | CA10585137 | LDLR | c.1055A>T (p.Asp352Val) c.797A>T (p.Asp266Val) c.1051A>T c.314-725A>T (n.314-725A>T) c.674A>T (p.Asp225Val) c.416A>T (p.Asp139Val) n.312A>T c.397A>T n.947A>T n.914A>T | ClinVar dbSNP |
19 | g.11106668T>A | CA023765 | LDLR | c.1056T>A (p.Asp352Glu) c.798T>A (p.Asp266Glu) c.1052T>A c.314-724T>A (n.314-724T>A) c.675T>A (p.Asp225Glu) c.417T>A (p.Asp139Glu) n.313T>A c.398T>A n.948T>A n.915T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106668T>C | CA505484960 | LDLR | c.1056T>C (p.Asp352=) c.798T>C (p.Asp266=) c.1052T>C c.314-724T>C (n.314-724T>C) c.675T>C (p.Asp225=) c.417T>C (p.Asp139=) n.313T>C c.398T>C n.948T>C n.915T>C | ClinVar dbSNP |
19 | g.11106668T>G | CA404080145 | LDLR | c.1056T>G (p.Asp352Glu) c.798T>G (p.Asp266Glu) c.1052T>G c.314-724T>G (n.314-724T>G) c.675T>G (p.Asp225Glu) c.417T>G (p.Asp139Glu) n.313T>G c.398T>G n.948T>G n.915T>G | |
19 | g.11106668T= | CA2322768215 | LDLR | c.1056T= (p.Asp352=) c.798T= (p.Asp266=) c.1052T= c.314-724T= (n.314-724T=) c.675T= (p.Asp225=) c.417T= (p.Asp139=) n.313T= c.398T= n.948T= n.915T= | |
19 | g.11106670_11106679del | CA2695238679 | LDLR | c.1058_1067del (p.Glu353AlafsTer4) c.800_809del (p.Glu267AlafsTer4) c.1054_1063del c.314-722_314-713del (n.314-722_314-713del) c.677_686del (p.Glu226AlafsTer4) c.419_428del (p.Glu140AlafsTer4) n.315_324del c.400_409del n.950_959del n.917_926del | |
19 | g.11106669G>A | CA10585138 | LDLR | c.1057G>A (p.Glu353Lys) c.799G>A (p.Glu267Lys) c.1053G>A c.314-723G>A (n.314-723G>A) c.676G>A (p.Glu226Lys) c.418G>A (p.Glu140Lys) n.314G>A c.399G>A n.949G>A n.916G>A | ClinVar dbSNP |
19 | g.11106669G>C | CA404080152 | LDLR | c.1057G>C (p.Glu353Gln) c.799G>C (p.Glu267Gln) c.1053G>C c.314-723G>C (n.314-723G>C) c.676G>C (p.Glu226Gln) c.418G>C (p.Glu140Gln) n.314G>C c.399G>C n.949G>C n.916G>C | |
19 | g.11106669G= | CA2322768216 | LDLR | c.1057G= (p.Glu353=) c.799G= (p.Glu267=) c.1053G= c.314-723G= (n.314-723G=) c.676G= (p.Glu226=) c.418G= (p.Glu140=) n.314G= c.399G= n.949G= n.916G= | |
19 | g.11106669G>T | CA404080155 | LDLR | c.1057G>T (p.Glu353Ter) c.799G>T (p.Glu267Ter) c.1053G>T c.314-723G>T (n.314-723G>T) c.676G>T (p.Glu226Ter) c.418G>T (p.Glu140Ter) n.314G>T c.399G>T n.949G>T n.916G>T | |
19 | g.11106670A= | CA2322768217 | LDLR | c.1058A= (p.Glu353=) c.800A= (p.Glu267=) c.1054A= c.314-722A= (n.314-722A=) c.677A= (p.Glu226=) c.419A= (p.Glu140=) n.315A= c.400A= n.950A= n.917A= | |
19 | g.11106670A>C | CA10585139 | LDLR | c.1058A>C (p.Glu353Ala) c.800A>C (p.Glu267Ala) c.1054A>C c.314-722A>C (n.314-722A>C) c.677A>C (p.Glu226Ala) c.419A>C (p.Glu140Ala) n.315A>C c.400A>C n.950A>C n.917A>C | ClinVar dbSNP |
19 | g.11106670A>G | CA404080165 | LDLR | c.1058A>G (p.Glu353Gly) c.800A>G (p.Glu267Gly) c.1054A>G c.314-722A>G (n.314-722A>G) c.677A>G (p.Glu226Gly) c.419A>G (p.Glu140Gly) n.315A>G c.400A>G n.950A>G n.917A>G | |
19 | g.11106670A>T | CA404080159 | LDLR | c.1058A>T (p.Glu353Val) c.800A>T (p.Glu267Val) c.1054A>T c.314-722A>T (n.314-722A>T) c.677A>T (p.Glu226Val) c.419A>T (p.Glu140Val) n.315A>T c.400A>T n.950A>T n.917A>T | |
19 | g.11106671A= | CA2322768218 | LDLR | c.1059A= (p.Glu353=) c.801A= (p.Glu267=) c.1055A= c.314-721A= (n.314-721A=) c.678A= (p.Glu226=) c.420A= (p.Glu140=) n.316A= c.401A= n.951A= n.918A= | |
19 | g.11106671A>C | CA404080171 | LDLR | c.1059A>C (p.Glu353Asp) c.801A>C (p.Glu267Asp) c.1055A>C c.314-721A>C (n.314-721A>C) c.678A>C (p.Glu226Asp) c.420A>C (p.Glu140Asp) n.316A>C c.401A>C n.951A>C n.918A>C | |
19 | g.11106671A>G | CA505484961 | LDLR | c.1059A>G (p.Glu353=) c.801A>G (p.Glu267=) c.1055A>G c.314-721A>G (n.314-721A>G) c.678A>G (p.Glu226=) c.420A>G (p.Glu140=) n.316A>G c.401A>G n.951A>G n.918A>G | |
19 | g.11106671A>T | CA10585140 | LDLR | c.1059A>T (p.Glu353Asp) c.801A>T (p.Glu267Asp) c.1055A>T c.314-721A>T (n.314-721A>T) c.678A>T (p.Glu226Asp) c.420A>T (p.Glu140Asp) n.316A>T c.401A>T n.951A>T n.918A>T | ClinVar dbSNP |
19 | g.11106672G>A | CA029434 | LDLR | c.1060G>A (p.Val354Ile) c.802G>A (p.Val268Ile) c.1056G>A c.314-720G>A (n.314-720G>A) c.679G>A (p.Val227Ile) c.421G>A (p.Val141Ile) n.317G>A c.402G>A n.952G>A n.919G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106672G>C | CA404080177 | LDLR | c.1060G>C (p.Val354Leu) c.802G>C (p.Val268Leu) c.1056G>C c.314-720G>C (n.314-720G>C) c.679G>C (p.Val227Leu) c.421G>C (p.Val141Leu) n.317G>C c.402G>C n.952G>C n.919G>C | |
19 | g.11106672G= | CA2322768219 | LDLR | c.1060G= (p.Val354=) c.802G= (p.Val268=) c.1056G= c.314-720G= (n.314-720G=) c.679G= (p.Val227=) c.421G= (p.Val141=) n.317G= c.402G= n.952G= n.919G= | |
19 | g.11106672G>T | CA404080180 | LDLR | c.1060G>T (p.Val354Phe) c.802G>T (p.Val268Phe) c.1056G>T c.314-720G>T (n.314-720G>T) c.679G>T (p.Val227Phe) c.421G>T (p.Val141Phe) n.317G>T c.402G>T n.952G>T n.919G>T | |
19 | g.11106675_11106683del | CA2697556240 | LDLR | c.1063_1071del (p.Gly355_Val357del) c.805_813del (p.Gly269_Val271del) c.1059_1067del c.314-717_314-709del (n.314-717_314-709del) c.682_690del (p.Gly228_Val230del) c.424_432del (p.Gly142_Val144del) n.320_328del c.405_413del n.955_963del n.922_930del | ClinVar |
19 | g.11106673T>A | CA404080186 | LDLR | c.1061T>A (p.Val354Asp) c.803T>A (p.Val268Asp) c.1057T>A c.314-719T>A (n.314-719T>A) c.680T>A (p.Val227Asp) c.422T>A (p.Val141Asp) n.318T>A c.403T>A n.953T>A n.920T>A | |
19 | g.11106673T>C | CA404080191 | LDLR | c.1061T>C (p.Val354Ala) c.803T>C (p.Val268Ala) c.1057T>C c.314-719T>C (n.314-719T>C) c.680T>C (p.Val227Ala) c.422T>C (p.Val141Ala) n.318T>C c.403T>C n.953T>C n.920T>C | |
19 | g.11106673T>G | CA404080194 | LDLR | c.1061T>G (p.Val354Gly) c.803T>G (p.Val268Gly) c.1057T>G c.314-719T>G (n.314-719T>G) c.680T>G (p.Val227Gly) c.422T>G (p.Val141Gly) n.318T>G c.403T>G n.953T>G n.920T>G | |
19 | g.11106674T>A | CA505484962 | LDLR | c.1062T>A (p.Val354=) c.804T>A (p.Val268=) c.1058T>A c.314-718T>A (n.314-718T>A) c.681T>A (p.Val227=) c.423T>A (p.Val141=) n.319T>A c.404T>A n.954T>A n.921T>A | |
19 | g.11106674T>C | CA029447 | LDLR | c.1062T>C (p.Val354=) c.804T>C (p.Val268=) c.1058T>C c.314-718T>C (n.314-718T>C) c.681T>C (p.Val227=) c.423T>C (p.Val141=) n.319T>C c.404T>C n.954T>C n.921T>C | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11106674T>G | CA505484963 | LDLR | c.1062T>G (p.Val354=) c.804T>G (p.Val268=) c.1058T>G c.314-718T>G (n.314-718T>G) c.681T>G (p.Val227=) c.423T>G (p.Val141=) n.319T>G c.404T>G n.954T>G n.921T>G | |
19 | g.11106674T= | CA2322768220 | LDLR | c.1062T= (p.Val354=) c.804T= (p.Val268=) c.1058T= c.314-718T= (n.314-718T=) c.681T= (p.Val227=) c.423T= (p.Val141=) n.319T= c.404T= n.954T= n.921T= | |
19 | g.11106675G>A | CA404080212 | LDLR | c.1063G>A (p.Gly355Ser) c.805G>A (p.Gly269Ser) c.1059G>A c.314-717G>A (n.314-717G>A) c.682G>A (p.Gly228Ser) c.424G>A (p.Gly142Ser) n.320G>A c.405G>A n.955G>A n.922G>A | ClinVar dbSNP |
19 | g.11106675G>C | CA404080217 | LDLR | c.1063G>C (p.Gly355Arg) c.805G>C (p.Gly269Arg) c.1059G>C c.314-717G>C (n.314-717G>C) c.682G>C (p.Gly228Arg) c.424G>C (p.Gly142Arg) n.320G>C c.405G>C n.955G>C n.922G>C | |
19 | g.11106675G= | CA2322768221 | LDLR | c.1063G= (p.Gly355=) c.805G= (p.Gly269=) c.1059G= c.314-717G= (n.314-717G=) c.682G= (p.Gly228=) c.424G= (p.Gly142=) n.320G= c.405G= n.955G= n.922G= | |
19 | g.11106675G>T | CA404080221 | LDLR | c.1063G>T (p.Gly355Cys) c.805G>T (p.Gly269Cys) c.1059G>T c.314-717G>T (n.314-717G>T) c.682G>T (p.Gly228Cys) c.424G>T (p.Gly142Cys) n.320G>T c.405G>T n.955G>T n.922G>T | |
19 | g.11106676G>A | CA023767 | LDLR | c.1064G>A (p.Gly355Asp) c.806G>A (p.Gly269Asp) c.1060G>A c.314-716G>A (n.314-716G>A) c.683G>A (p.Gly228Asp) c.425G>A (p.Gly142Asp) n.321G>A c.406G>A n.956G>A n.923G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106676G>C | CA404080230 | LDLR | c.1064G>C (p.Gly355Ala) c.806G>C (p.Gly269Ala) c.1060G>C c.314-716G>C (n.314-716G>C) c.683G>C (p.Gly228Ala) c.425G>C (p.Gly142Ala) n.321G>C c.406G>C n.956G>C n.923G>C | |
19 | g.11106676G= | CA2322768222 | LDLR | c.1064G= (p.Gly355=) c.806G= (p.Gly269=) c.1060G= c.314-716G= (n.314-716G=) c.683G= (p.Gly228=) c.425G= (p.Gly142=) n.321G= c.406G= n.956G= n.923G= | |
19 | g.11106676G>T | CA305298394 | LDLR | c.1064G>T (p.Gly355Val) c.806G>T (p.Gly269Val) c.1060G>T c.314-716G>T (n.314-716G>T) c.683G>T (p.Gly228Val) c.425G>T (p.Gly142Val) n.321G>T c.406G>T n.956G>T n.923G>T | dbSNP |
19 | g.11106677C>A | CA505484966 | LDLR | c.1065C>A (p.Gly355=) c.807C>A (p.Gly269=) c.1061C>A c.314-715C>A (n.314-715C>A) c.684C>A (p.Gly228=) c.426C>A (p.Gly142=) n.322C>A c.407C>A n.957C>A n.924C>A | |
19 | g.11106677C= | CA2322768223 | LDLR | c.1065C= (p.Gly355=) c.807C= (p.Gly269=) c.1061C= c.314-715C= (n.314-715C=) c.684C= (p.Gly228=) c.426C= (p.Gly142=) n.322C= c.407C= n.957C= n.924C= | |
19 | g.11106677C>G | CA505484965 | LDLR | c.1065C>G (p.Gly355=) c.807C>G (p.Gly269=) c.1061C>G c.314-715C>G (n.314-715C>G) c.684C>G (p.Gly228=) c.426C>G (p.Gly142=) n.322C>G c.407C>G n.957C>G n.924C>G | |
19 | g.11106677C>T | CA505484964 | LDLR | c.1065C>T (p.Gly355=) c.807C>T (p.Gly269=) c.1061C>T c.314-715C>T (n.314-715C>T) c.684C>T (p.Gly228=) c.426C>T (p.Gly142=) n.322C>T c.407C>T n.957C>T n.924C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106678T>A | CA10585141 | LDLR | c.1066T>A (p.Cys356Ser) c.808T>A (p.Cys270Ser) c.1062T>A c.314-714T>A (n.314-714T>A) c.685T>A (p.Cys229Ser) c.427T>A (p.Cys143Ser) n.323T>A c.408T>A n.958T>A n.925T>A | ClinVar dbSNP |
19 | g.11106678T>C | CA10585142 | LDLR | c.1066T>C (p.Cys356Arg) c.808T>C (p.Cys270Arg) c.1062T>C c.314-714T>C (n.314-714T>C) c.685T>C (p.Cys229Arg) c.427T>C (p.Cys143Arg) n.323T>C c.408T>C n.958T>C n.925T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106678T>G | CA404080239 | LDLR | c.1066T>G (p.Cys356Gly) c.808T>G (p.Cys270Gly) c.1062T>G c.314-714T>G (n.314-714T>G) c.685T>G (p.Cys229Gly) c.427T>G (p.Cys143Gly) n.323T>G c.408T>G n.958T>G n.925T>G | gnomAD v4 |
19 | g.11106678T= | CA2322768224 | LDLR | c.1066T= (p.Cys356=) c.808T= (p.Cys270=) c.1062T= c.314-714T= (n.314-714T=) c.685T= (p.Cys229=) c.427T= (p.Cys143=) n.323T= c.408T= n.958T= n.925T= | |
19 | g.11106679G>A | CA10585143 | LDLR | c.1067G>A (p.Cys356Tyr) c.809G>A (p.Cys270Tyr) c.1063G>A c.314-713G>A (n.314-713G>A) c.686G>A (p.Cys229Tyr) c.428G>A (p.Cys143Tyr) n.324G>A c.409G>A n.959G>A n.926G>A | ClinVar dbSNP |
19 | g.11106679G>C | CA404080256 | LDLR | c.1067G>C (p.Cys356Ser) c.809G>C (p.Cys270Ser) c.1063G>C c.314-713G>C (n.314-713G>C) c.686G>C (p.Cys229Ser) c.428G>C (p.Cys143Ser) n.324G>C c.409G>C n.959G>C n.926G>C | |
19 | g.11106679G= | CA2322768225 | LDLR | c.1067G= (p.Cys356=) c.809G= (p.Cys270=) c.1063G= c.314-713G= (n.314-713G=) c.686G= (p.Cys229=) c.428G= (p.Cys143=) n.324G= c.409G= n.959G= n.926G= | |
19 | g.11106679G>T | CA404080260 | LDLR | c.1067G>T (p.Cys356Phe) c.809G>T (p.Cys270Phe) c.1063G>T c.314-713G>T (n.314-713G>T) c.686G>T (p.Cys229Phe) c.428G>T (p.Cys143Phe) n.324G>T c.409G>T n.959G>T n.926G>T |