Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
19 | g.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.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.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 | |
19 | g.11106680C>A | CA10585144 | LDLR | c.1068C>A (p.Cys356Ter) c.810C>A (p.Cys270Ter) c.1064C>A c.314-712C>A (n.314-712C>A) c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) n.325C>A c.410C>A n.960C>A n.927C>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11106680C= | CA2322768226 | LDLR | c.1068C= (p.Cys356=) c.810C= (p.Cys270=) c.1064C= c.314-712C= (n.314-712C=) c.687C= (p.Cys229=) c.429C= (p.Cys143=) n.325C= c.410C= n.960C= n.927C= | |
19 | g.11106680C>G | CA404080270 | LDLR | c.1068C>G (p.Cys356Trp) c.810C>G (p.Cys270Trp) c.1064C>G c.314-712C>G (n.314-712C>G) c.687C>G (p.Cys229Trp) c.429C>G (p.Cys143Trp) n.325C>G c.410C>G n.960C>G n.927C>G | ClinVar dbSNP |
19 | g.11106680C>T | CA029479 | LDLR | c.1068C>T (p.Cys356=) c.810C>T (p.Cys270=) c.1064C>T c.314-712C>T (n.314-712C>T) c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) n.325C>T c.410C>T n.960C>T n.927C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106681G>A | CA023769 | LDLR | c.1069G>A (p.Val357Ile) c.811G>A (p.Val271Ile) c.1065G>A c.314-711G>A (n.314-711G>A) c.688G>A (p.Val230Ile) c.430G>A (p.Val144Ile) n.326G>A c.411G>A n.961G>A n.928G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11106681G>C | CA404080274 | LDLR | c.1069G>C (p.Val357Leu) c.811G>C (p.Val271Leu) c.1065G>C c.314-711G>C (n.314-711G>C) c.688G>C (p.Val230Leu) c.430G>C (p.Val144Leu) n.326G>C c.411G>C n.961G>C n.928G>C | |
19 | g.11106681G= | CA2322768227 | LDLR | c.1069G= (p.Val357=) c.811G= (p.Val271=) c.1065G= c.314-711G= (n.314-711G=) c.688G= (p.Val230=) c.430G= (p.Val144=) n.326G= c.411G= n.961G= n.928G= | |
19 | g.11106681G>T | CA404080277 | LDLR | c.1069G>T (p.Val357Phe) c.811G>T (p.Val271Phe) c.1065G>T c.314-711G>T (n.314-711G>T) c.688G>T (p.Val230Phe) c.430G>T (p.Val144Phe) n.326G>T c.411G>T n.961G>T n.928G>T | |
19 | g.11106682T>A | CA404080282 | LDLR | c.1070T>A (p.Val357Asp) c.812T>A (p.Val271Asp) c.1066T>A c.314-710T>A (n.314-710T>A) c.689T>A (p.Val230Asp) c.431T>A (p.Val144Asp) n.327T>A c.412T>A n.962T>A n.929T>A | |
19 | g.11106682T>C | CA404080283 | LDLR | c.1070T>C (p.Val357Ala) c.812T>C (p.Val271Ala) c.1066T>C c.314-710T>C (n.314-710T>C) c.689T>C (p.Val230Ala) c.431T>C (p.Val144Ala) n.327T>C c.412T>C n.962T>C n.929T>C | |
19 | g.11106682T>G | CA404080284 | LDLR | c.1070T>G (p.Val357Gly) c.812T>G (p.Val271Gly) c.1066T>G c.314-710T>G (n.314-710T>G) c.689T>G (p.Val230Gly) c.431T>G (p.Val144Gly) n.327T>G c.412T>G n.962T>G n.929T>G | |
19 | g.11106683T>A | CA505484967 | LDLR | c.1071T>A (p.Val357=) c.813T>A (p.Val271=) c.1067T>A c.314-709T>A (n.314-709T>A) c.690T>A (p.Val230=) c.432T>A (p.Val144=) n.328T>A c.413T>A n.963T>A n.930T>A | gnomAD v4 |
19 | g.11106683T>C | CA505484968 | LDLR | c.1071T>C (p.Val357=) c.813T>C (p.Val271=) c.1067T>C c.314-709T>C (n.314-709T>C) c.690T>C (p.Val230=) c.432T>C (p.Val144=) n.328T>C c.413T>C n.963T>C n.930T>C | |
19 | g.11106683T>G | CA505484969 | LDLR | c.1071T>G (p.Val357=) c.813T>G (p.Val271=) c.1067T>G c.314-709T>G (n.314-709T>G) c.690T>G (p.Val230=) c.432T>G (p.Val144=) n.328T>G c.413T>G n.963T>G n.930T>G | |
19 | g.11106683_11106687delinsTAATG | CA2322768228 | LDLR | c.1071_1075delinsTAATG (p.Val357=) c.813_817delinsTAATG (p.Val271=) c.1067_1071delinsTAATG c.314-709_314-705delinsTAATG (n.314-709_314-705delinsTAATG) c.690_694delinsTAATG (p.Val230=) c.432_436delinsTAATG (p.Val144=) n.328_332delinsTAATG c.413_417delinsTAATG n.963_967delinsTAATG n.930_934delinsTAATG | |
19 | g.11106684_11107392del | CA645509269 | LDLR | c.1072_1076del c.814_818del c.1068_1072del c.314-708_314del c.691_695del c.433_437del n.329_333del c.414_418del n.964_968del n.931_935del | ClinVar |
19 | g.11106684A>C | CA404080294 | LDLR | c.1072A>C (p.Asn358His) c.814A>C (p.Asn272His) c.1068A>C c.314-708A>C (n.314-708A>C) c.691A>C (p.Asn231His) c.433A>C (p.Asn145His) n.329A>C c.414A>C n.964A>C n.931A>C | |
19 | g.11106684A>G | CA404080297 | LDLR | c.1072A>G (p.Asn358Asp) c.814A>G (p.Asn272Asp) c.1068A>G c.314-708A>G (n.314-708A>G) c.691A>G (p.Asn231Asp) c.433A>G (p.Asn145Asp) n.329A>G c.414A>G n.964A>G n.931A>G | |
19 | g.11106684A>T | CA404080291 | LDLR | c.1072A>T (p.Asn358Tyr) c.814A>T (p.Asn272Tyr) c.1068A>T c.314-708A>T (n.314-708A>T) c.691A>T (p.Asn231Tyr) c.433A>T (p.Asn145Tyr) n.329A>T c.414A>T n.964A>T n.931A>T | |
19 | g.11106684_11106687del | CA10585145 | LDLR | c.1072_1075del (p.Asn358Ter) c.814_817del (p.Asn272Ter) c.1068_1071del c.314-708_314-705del (n.314-708_314-705del) c.691_694del (p.Asn231Ter) c.433_436del (p.Asn145Ter) n.329_332del c.414_417del n.964_967del n.931_934del | ClinVar dbSNP |
19 | g.11106685A= | CA2322768229 | LDLR | c.1073A= (p.Asn358=) c.815A= (p.Asn272=) c.1069A= c.314-707A= (n.314-707A=) c.692A= (p.Asn231=) c.434A= (p.Asn145=) n.330A= c.415A= n.965A= n.932A= | |
19 | g.11106685A>C | CA10585146 | LDLR | c.1073A>C (p.Asn358Thr) c.815A>C (p.Asn272Thr) c.1069A>C c.314-707A>C (n.314-707A>C) c.692A>C (p.Asn231Thr) c.434A>C (p.Asn145Thr) n.330A>C c.415A>C n.965A>C n.932A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11106685A>G | CA404080304 | LDLR | c.1073A>G (p.Asn358Ser) c.815A>G (p.Asn272Ser) c.1069A>G c.314-707A>G (n.314-707A>G) c.692A>G (p.Asn231Ser) c.434A>G (p.Asn145Ser) n.330A>G c.415A>G n.965A>G n.932A>G | gnomAD v4 |
19 | g.11106685A>T | CA404080307 | LDLR | c.1073A>T (p.Asn358Ile) c.815A>T (p.Asn272Ile) c.1069A>T c.314-707A>T (n.314-707A>T) c.692A>T (p.Asn231Ile) c.434A>T (p.Asn145Ile) n.330A>T c.415A>T n.965A>T n.932A>T | |
19 | g.11106686T>A | CA404080312 | LDLR | c.1074T>A (p.Asn358Lys) c.816T>A (p.Asn272Lys) c.1070T>A c.314-706T>A (n.314-706T>A) c.693T>A (p.Asn231Lys) c.435T>A (p.Asn145Lys) n.331T>A c.416T>A n.966T>A n.933T>A | COSMIC |
19 | g.11106686T>C | CA505484970 | LDLR | c.1074T>C (p.Asn358=) c.816T>C (p.Asn272=) c.1070T>C c.314-706T>C (n.314-706T>C) c.693T>C (p.Asn231=) c.435T>C (p.Asn145=) n.331T>C c.416T>C n.966T>C n.933T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106686T>G | CA404080315 | LDLR | c.1074T>G (p.Asn358Lys) c.816T>G (p.Asn272Lys) c.1070T>G c.314-706T>G (n.314-706T>G) c.693T>G (p.Asn231Lys) c.435T>G (p.Asn145Lys) n.331T>G c.416T>G n.966T>G n.933T>G | |
19 | g.11106686T= | CA2322768230 | LDLR | c.1074T= (p.Asn358=) c.816T= (p.Asn272=) c.1070T= c.314-706T= (n.314-706T=) c.693T= (p.Asn231=) c.435T= (p.Asn145=) n.331T= c.416T= n.966T= n.933T= | |
19 | g.11106687G>A | CA404080320 | LDLR | c.1075G>A (p.Val359Met) c.817G>A (p.Val273Met) c.1071G>A c.314-705G>A (n.314-705G>A) c.694G>A (p.Val232Met) c.436G>A (p.Val146Met) n.332G>A c.417G>A n.967G>A n.934G>A | |
19 | g.11106687G>C | CA404080324 | LDLR | c.1075G>C (p.Val359Leu) c.817G>C (p.Val273Leu) c.1071G>C c.314-705G>C (n.314-705G>C) c.694G>C (p.Val232Leu) c.436G>C (p.Val146Leu) n.332G>C c.417G>C n.967G>C n.934G>C | |
19 | g.11106687G= | CA2322768231 | LDLR | c.1075G= (p.Val359=) c.817G= (p.Val273=) c.1071G= c.314-705G= (n.314-705G=) c.694G= (p.Val232=) c.436G= (p.Val146=) n.332G= c.417G= n.967G= n.934G= | |
19 | g.11106687G>T | CA404080328 | LDLR | c.1075G>T (p.Val359Leu) c.817G>T (p.Val273Leu) c.1071G>T c.314-705G>T (n.314-705G>T) c.694G>T (p.Val232Leu) c.436G>T (p.Val146Leu) n.332G>T c.417G>T n.967G>T n.934G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106687_11106688insTGACACTCT | CA2735607973 | LDLR | c.1075_1075+1insTGACACTCT (n.1075_1075+1insTGACACTCT) c.817_817+1insTGACACTCT (n.817_817+1insTGACACTCT) c.1071_1071+1insTGACACTCT c.314-705_314-704insTGACACTCT (n.314-705_314-704insTGACACTCT) c.694_694+1insTGACACTCT (n.694_694+1insTGACACTCT) c.436_436+1insTGACACTCT (n.436_436+1insTGACACTCT) n.332_332+1insTGACACTCT c.417_417+1insTGACACTCT n.967_967+1insTGACACTCT n.934_934+1insTGACACTCT | dbSNP |
19 | g.11106688G>A | CA10585147 | LDLR | c.1075+1G>A (n.1075+1G>A) c.817+1G>A (n.817+1G>A) c.1071+1G>A c.314-704G>A (n.314-704G>A) c.694+1G>A (n.694+1G>A) c.436+1G>A (n.436+1G>A) n.332+1G>A c.417+1G>A n.967+1G>A n.934+1G>A | ClinVar dbSNP |
19 | g.11106688G>C | CA404080337 | LDLR | c.1075+1G>C (n.1075+1G>C) c.817+1G>C (n.817+1G>C) c.1071+1G>C c.314-704G>C (n.314-704G>C) c.694+1G>C (n.694+1G>C) c.436+1G>C (n.436+1G>C) n.332+1G>C c.417+1G>C n.967+1G>C n.934+1G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106688G= | CA2322768232 | LDLR | c.1075+1G= (n.1075+1G=) c.817+1G= (n.817+1G=) c.1071+1G= c.314-704G= (n.314-704G=) c.694+1G= (n.694+1G=) c.436+1G= (n.436+1G=) n.332+1G= c.417+1G= n.967+1G= n.934+1G= | |
19 | g.11106688G>T | CA404080341 | LDLR | c.1075+1G>T (n.1075+1G>T) c.817+1G>T (n.817+1G>T) c.1071+1G>T c.314-704G>T (n.314-704G>T) c.694+1G>T (n.694+1G>T) c.436+1G>T (n.436+1G>T) n.332+1G>T c.417+1G>T n.967+1G>T n.934+1G>T | ClinVar dbSNP |
19 | g.11106688_11106689insCTG | CA2573054703 | LDLR | c.1075+1_1075+2insCTG (n.1075+1_1075+2insCTG) c.817+1_817+2insCTG (n.817+1_817+2insCTG) c.1071+1_1071+2insCTG c.314-704_314-703insCTG (n.314-704_314-703insCTG) c.694+1_694+2insCTG (n.694+1_694+2insCTG) c.436+1_436+2insCTG (n.436+1_436+2insCTG) n.332+1_332+2insCTG c.417+1_417+2insCTG n.967+1_967+2insCTG n.934+1_934+2insCTG | dbSNP |
19 | g.11106689T>A | CA404080348 | LDLR | c.1075+2T>A (n.1075+2T>A) c.817+2T>A (n.817+2T>A) c.1071+2T>A c.314-703T>A (n.314-703T>A) c.694+2T>A (n.694+2T>A) c.436+2T>A (n.436+2T>A) n.332+2T>A c.417+2T>A n.967+2T>A n.934+2T>A | |
19 | g.11106689T>C | CA10585148 | LDLR | c.1075+2T>C (n.1075+2T>C) c.817+2T>C (n.817+2T>C) c.1071+2T>C c.314-703T>C (n.314-703T>C) c.694+2T>C (n.694+2T>C) c.436+2T>C (n.436+2T>C) n.332+2T>C c.417+2T>C n.967+2T>C n.934+2T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11106689T>G | CA404080351 | LDLR | c.1075+2T>G (n.1075+2T>G) c.817+2T>G (n.817+2T>G) c.1071+2T>G c.314-703T>G (n.314-703T>G) c.694+2T>G (n.694+2T>G) c.436+2T>G (n.436+2T>G) n.332+2T>G c.417+2T>G n.967+2T>G n.934+2T>G | ClinVar dbSNP |
19 | g.11106689T= | CA2322768233 | LDLR | c.1075+2T= (n.1075+2T=) c.817+2T= (n.817+2T=) c.1071+2T= c.314-703T= (n.314-703T=) c.694+2T= (n.694+2T=) c.436+2T= (n.436+2T=) n.332+2T= c.417+2T= n.967+2T= n.934+2T= | |
19 | g.11106690G>A | CA2322768235 | LDLR | c.1075+3G>A (n.1075+3G>A) c.817+3G>A (n.817+3G>A) c.1071+3G>A c.314-702G>A (n.314-702G>A) c.694+3G>A (n.694+3G>A) c.436+3G>A (n.436+3G>A) n.332+3G>A c.417+3G>A n.967+3G>A n.934+3G>A | dbSNP |
19 | g.11106690G= | CA2322768234 | LDLR | c.1075+3G= (n.1075+3G=) c.817+3G= (n.817+3G=) c.1071+3G= c.314-702G= (n.314-702G=) c.694+3G= (n.694+3G=) c.436+3G= (n.436+3G=) n.332+3G= c.417+3G= n.967+3G= n.934+3G= | |
19 | g.11106690G>T | CA645617879 | LDLR | c.1075+3G>T (n.1075+3G>T) c.817+3G>T (n.817+3G>T) c.1071+3G>T c.314-702G>T (n.314-702G>T) c.694+3G>T (n.694+3G>T) c.436+3G>T (n.436+3G>T) n.332+3G>T c.417+3G>T n.967+3G>T n.934+3G>T | COSMIC |
19 | g.11106692G>C | CA029578 | LDLR | c.1075+5G>C (n.1075+5G>C) c.817+5G>C (n.817+5G>C) c.1071+5G>C c.314-700G>C (n.314-700G>C) c.694+5G>C (n.694+5G>C) c.436+5G>C (n.436+5G>C) n.332+5G>C c.417+5G>C n.967+5G>C n.934+5G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106692G= | CA2322768236 | LDLR | c.1075+5G= (n.1075+5G=) c.817+5G= (n.817+5G=) c.1071+5G= c.314-700G= (n.314-700G=) c.694+5G= (n.694+5G=) c.436+5G= (n.436+5G=) n.332+5G= c.417+5G= n.967+5G= n.934+5G= | |
19 | g.11106693C= | CA2322768237 | LDLR | c.1075+6C= (n.1075+6C=) c.817+6C= (n.817+6C=) c.1071+6C= c.314-699C= (n.314-699C=) c.694+6C= (n.694+6C=) c.436+6C= (n.436+6C=) n.332+6C= c.417+6C= n.967+6C= n.934+6C= | |
19 | g.11106693C>G | CA2735343050 | LDLR | c.1075+6C>G (n.1075+6C>G) c.817+6C>G (n.817+6C>G) c.1071+6C>G c.314-699C>G (n.314-699C>G) c.694+6C>G (n.694+6C>G) c.436+6C>G (n.436+6C>G) n.332+6C>G c.417+6C>G n.967+6C>G n.934+6C>G | dbSNP |
19 | g.11106693C>T | CA029590 | LDLR | c.1075+6C>T (n.1075+6C>T) c.817+6C>T (n.817+6C>T) c.1071+6C>T c.314-699C>T (n.314-699C>T) c.694+6C>T (n.694+6C>T) c.436+6C>T (n.436+6C>T) n.332+6C>T c.417+6C>T n.967+6C>T n.934+6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106694G>A | CA029625 | LDLR | c.1075+7G>A (n.1075+7G>A) c.817+7G>A (n.817+7G>A) c.1071+7G>A c.314-698G>A (n.314-698G>A) c.694+7G>A (n.694+7G>A) c.436+7G>A (n.436+7G>A) n.332+7G>A c.417+7G>A n.967+7G>A n.934+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106694G= | CA2322768238 | LDLR | c.1075+7G= (n.1075+7G=) c.817+7G= (n.817+7G=) c.1071+7G= c.314-698G= (n.314-698G=) c.694+7G= (n.694+7G=) c.436+7G= (n.436+7G=) n.332+7G= c.417+7G= n.967+7G= n.934+7G= | |
19 | g.11106694G>T | CA2322768239 | LDLR | c.1075+7G>T (n.1075+7G>T) c.817+7G>T (n.817+7G>T) c.1071+7G>T c.314-698G>T (n.314-698G>T) c.694+7G>T (n.694+7G>T) c.436+7G>T (n.436+7G>T) n.332+7G>T c.417+7G>T n.967+7G>T n.934+7G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11106696T>C | CA029634 | LDLR | c.1075+9T>C (n.1075+9T>C) c.817+9T>C (n.817+9T>C) c.1071+9T>C c.314-696T>C (n.314-696T>C) c.694+9T>C (n.694+9T>C) c.436+9T>C (n.436+9T>C) n.332+9T>C c.417+9T>C n.967+9T>C n.934+9T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106696T= | CA2322768240 | LDLR | c.1075+9T= (n.1075+9T=) c.817+9T= (n.817+9T=) c.1071+9T= c.314-696T= (n.314-696T=) c.694+9T= (n.694+9T=) c.436+9T= (n.436+9T=) n.332+9T= c.417+9T= n.967+9T= n.934+9T= | |
19 | g.11106698G>A | CA2830773972 | LDLR | c.1075+11G>A (n.1075+11G>A) c.817+11G>A (n.817+11G>A) c.1071+11G>A c.314-694G>A (n.314-694G>A) c.694+11G>A (n.694+11G>A) c.436+11G>A (n.436+11G>A) n.332+11G>A c.417+11G>A n.967+11G>A n.934+11G>A | |
19 | g.11106698G>C | CA2582473825 | LDLR | c.1075+11G>C (n.1075+11G>C) c.817+11G>C (n.817+11G>C) c.1071+11G>C c.314-694G>C (n.314-694G>C) c.694+11G>C (n.694+11G>C) c.436+11G>C (n.436+11G>C) n.332+11G>C c.417+11G>C n.967+11G>C n.934+11G>C | gnomAD v4 |
19 | g.11106699C>T | CA505484971 | LDLR | c.1075+12C>T (n.1075+12C>T) c.817+12C>T (n.817+12C>T) c.1071+12C>T c.314-693C>T (n.314-693C>T) c.694+12C>T (n.694+12C>T) c.436+12C>T (n.436+12C>T) n.332+12C>T c.417+12C>T n.967+12C>T n.934+12C>T | |
19 | g.11106700C= | CA2322768241 | LDLR | c.1075+13C= (n.1075+13C=) c.817+13C= (n.817+13C=) c.1071+13C= c.314-692C= (n.314-692C=) c.694+13C= (n.694+13C=) c.436+13C= (n.436+13C=) n.332+13C= c.417+13C= n.967+13C= n.934+13C= | |
19 | g.11106700C>T | CA305298404 | LDLR | c.1075+13C>T (n.1075+13C>T) c.817+13C>T (n.817+13C>T) c.1071+13C>T c.314-692C>T (n.314-692C>T) c.694+13C>T (n.694+13C>T) c.436+13C>T (n.436+13C>T) n.332+13C>T c.417+13C>T n.967+13C>T n.934+13C>T | ClinVar dbSNP |
19 | g.11106701A= | CA2322768242 | LDLR | c.1075+14A= (n.1075+14A=) c.817+14A= (n.817+14A=) c.1071+14A= c.314-691A= (n.314-691A=) c.694+14A= (n.694+14A=) c.436+14A= (n.436+14A=) n.332+14A= c.417+14A= n.967+14A= n.934+14A= | |
19 | g.11106701A>G | CA029522 | LDLR | c.1075+14A>G (n.1075+14A>G) c.817+14A>G (n.817+14A>G) c.1071+14A>G c.314-691A>G (n.314-691A>G) c.694+14A>G (n.694+14A>G) c.436+14A>G (n.436+14A>G) n.332+14A>G c.417+14A>G n.967+14A>G n.934+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106702T>A | CA2576625918 | LDLR | c.1075+15T>A (n.1075+15T>A) c.817+15T>A (n.817+15T>A) c.1071+15T>A c.314-690T>A (n.314-690T>A) c.694+15T>A (n.694+15T>A) c.436+15T>A (n.436+15T>A) n.332+15T>A c.417+15T>A n.967+15T>A n.934+15T>A | gnomAD v4 |
19 | g.11106703C>T | CA2576625919 | LDLR | c.1075+16C>T (n.1075+16C>T) c.817+16C>T (n.817+16C>T) c.1071+16C>T c.314-689C>T (n.314-689C>T) c.694+16C>T (n.694+16C>T) c.436+16C>T (n.436+16C>T) n.332+16C>T c.417+16C>T n.967+16C>T n.934+16C>T | gnomAD v4 |
19 | g.11106705G>C | CA029541 | LDLR | c.1075+18G>C (n.1075+18G>C) c.817+18G>C (n.817+18G>C) c.1071+18G>C c.314-687G>C (n.314-687G>C) c.694+18G>C (n.694+18G>C) c.436+18G>C (n.436+18G>C) n.332+18G>C c.417+18G>C n.967+18G>C n.934+18G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106705G= | CA2322768243 | LDLR | c.1075+18G= (n.1075+18G=) c.817+18G= (n.817+18G=) c.1071+18G= c.314-687G= (n.314-687G=) c.694+18G= (n.694+18G=) c.436+18G= (n.436+18G=) n.332+18G= c.417+18G= n.967+18G= n.934+18G= | |
19 | g.11106706G>A | CA783244132 | LDLR | c.1075+19G>A (n.1075+19G>A) c.817+19G>A (n.817+19G>A) c.1071+19G>A c.314-686G>A (n.314-686G>A) c.694+19G>A (n.694+19G>A) c.436+19G>A (n.436+19G>A) n.332+19G>A c.417+19G>A n.967+19G>A n.934+19G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11106706G= | CA2322768244 | LDLR | c.1075+19G= (n.1075+19G=) c.817+19G= (n.817+19G=) c.1071+19G= c.314-686G= (n.314-686G=) c.694+19G= (n.694+19G=) c.436+19G= (n.436+19G=) n.332+19G= c.417+19G= n.967+19G= n.934+19G= | |
19 | g.11106708T>C | CA2582473826 | LDLR | c.1075+21T>C (n.1075+21T>C) c.817+21T>C (n.817+21T>C) c.1071+21T>C c.314-684T>C (n.314-684T>C) c.694+21T>C (n.694+21T>C) c.436+21T>C (n.436+21T>C) n.332+21T>C c.417+21T>C n.967+21T>C n.934+21T>C | gnomAD v4 |
19 | g.11106709T>C | CA2576625921 | LDLR | c.1075+22T>C (n.1075+22T>C) c.817+22T>C (n.817+22T>C) c.1071+22T>C c.314-683T>C (n.314-683T>C) c.694+22T>C (n.694+22T>C) c.436+22T>C (n.436+22T>C) n.332+22T>C c.417+22T>C n.967+22T>C n.934+22T>C | gnomAD v4 |
19 | g.11106711C= | CA2322768245 | LDLR | c.1075+24C= (n.1075+24C=) c.817+24C= (n.817+24C=) c.1071+24C= c.314-681C= (n.314-681C=) c.694+24C= (n.694+24C=) c.436+24C= (n.436+24C=) n.332+24C= c.417+24C= n.967+24C= n.934+24C= | |
19 | g.11106711C>G | CA2576625922 | LDLR | c.1075+24C>G (n.1075+24C>G) c.817+24C>G (n.817+24C>G) c.1071+24C>G c.314-681C>G (n.314-681C>G) c.694+24C>G (n.694+24C>G) c.436+24C>G (n.436+24C>G) n.332+24C>G c.417+24C>G n.967+24C>G n.934+24C>G | |
19 | g.11106711C>T | CA2322768246 | LDLR | c.1075+24C>T (n.1075+24C>T) c.817+24C>T (n.817+24C>T) c.1071+24C>T c.314-681C>T (n.314-681C>T) c.694+24C>T (n.694+24C>T) c.436+24C>T (n.436+24C>T) n.332+24C>T c.417+24C>T n.967+24C>T n.934+24C>T | dbSNP |
19 | g.11106715C>A | CA2582473827 | LDLR | c.1075+28C>A (n.1075+28C>A) c.817+28C>A (n.817+28C>A) c.1071+28C>A c.314-677C>A (n.314-677C>A) c.694+28C>A (n.694+28C>A) c.436+28C>A (n.436+28C>A) n.332+28C>A c.417+28C>A n.967+28C>A n.934+28C>A | gnomAD v4 |
19 | g.11106715C= | CA2322768247 | LDLR | c.1075+28C= (n.1075+28C=) c.817+28C= (n.817+28C=) c.1071+28C= c.314-677C= (n.314-677C=) c.694+28C= (n.694+28C=) c.436+28C= (n.436+28C=) n.332+28C= c.417+28C= n.967+28C= n.934+28C= | |
19 | g.11106715C>G | CA631763913 | LDLR | c.1075+28C>G (n.1075+28C>G) c.817+28C>G (n.817+28C>G) c.1071+28C>G c.314-677C>G (n.314-677C>G) c.694+28C>G (n.694+28C>G) c.436+28C>G (n.436+28C>G) n.332+28C>G c.417+28C>G n.967+28C>G n.934+28C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11106715C>T | CA2576625923 | LDLR | c.1075+28C>T (n.1075+28C>T) c.817+28C>T (n.817+28C>T) c.1071+28C>T c.314-677C>T (n.314-677C>T) c.694+28C>T (n.694+28C>T) c.436+28C>T (n.436+28C>T) n.332+28C>T c.417+28C>T n.967+28C>T n.934+28C>T | gnomAD v4 |
19 | g.11106716C>G | CA2582473828 | LDLR | c.1075+29C>G (n.1075+29C>G) c.817+29C>G (n.817+29C>G) c.1071+29C>G c.314-676C>G (n.314-676C>G) c.694+29C>G (n.694+29C>G) c.436+29C>G (n.436+29C>G) n.332+29C>G c.417+29C>G n.967+29C>G n.934+29C>G | gnomAD v4 |
19 | g.11106717C= | CA2322768248 | LDLR | c.1075+30C= (n.1075+30C=) c.817+30C= (n.817+30C=) c.1071+30C= c.314-675C= (n.314-675C=) c.694+30C= (n.694+30C=) c.436+30C= (n.436+30C=) n.332+30C= c.417+30C= n.967+30C= n.934+30C= | |
19 | g.11106717C>T | CA783244136 | LDLR | c.1075+30C>T (n.1075+30C>T) c.817+30C>T (n.817+30C>T) c.1071+30C>T c.314-675C>T (n.314-675C>T) c.694+30C>T (n.694+30C>T) c.436+30C>T (n.436+30C>T) n.332+30C>T c.417+30C>T n.967+30C>T n.934+30C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106718C= | CA2322768249 | LDLR | c.1075+31C= (n.1075+31C=) c.817+31C= (n.817+31C=) c.1071+31C= c.314-674C= (n.314-674C=) c.694+31C= (n.694+31C=) c.436+31C= (n.436+31C=) n.332+31C= c.417+31C= n.967+31C= n.934+31C= | |
19 | g.11106718C>T | CA2322768250 | LDLR | c.1075+31C>T (n.1075+31C>T) c.817+31C>T (n.817+31C>T) c.1071+31C>T c.314-674C>T (n.314-674C>T) c.694+31C>T (n.694+31C>T) c.436+31C>T (n.436+31C>T) n.332+31C>T c.417+31C>T n.967+31C>T n.934+31C>T | dbSNP |
19 | g.11106719C>T | CA2582473829 | LDLR | c.1075+32C>T (n.1075+32C>T) c.817+32C>T (n.817+32C>T) c.1071+32C>T c.314-673C>T (n.314-673C>T) c.694+32C>T (n.694+32C>T) c.436+32C>T (n.436+32C>T) n.332+32C>T c.417+32C>T n.967+32C>T n.934+32C>T | gnomAD v4 |
19 | g.11106721T>A | CA2582473830 | LDLR | c.1075+34T>A (n.1075+34T>A) c.817+34T>A (n.817+34T>A) c.1071+34T>A c.314-671T>A (n.314-671T>A) c.694+34T>A (n.694+34T>A) c.436+34T>A (n.436+34T>A) n.332+34T>A c.417+34T>A n.967+34T>A n.934+34T>A | gnomAD v4 |
19 | g.11106721T>C | CA029554 | LDLR | c.1075+34T>C (n.1075+34T>C) c.817+34T>C (n.817+34T>C) c.1071+34T>C c.314-671T>C (n.314-671T>C) c.694+34T>C (n.694+34T>C) c.436+34T>C (n.436+34T>C) n.332+34T>C c.417+34T>C n.967+34T>C n.934+34T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11106721T= | CA2322768251 | LDLR | c.1075+34T= (n.1075+34T=) c.817+34T= (n.817+34T=) c.1071+34T= c.314-671T= (n.314-671T=) c.694+34T= (n.694+34T=) c.436+34T= (n.436+34T=) n.332+34T= c.417+34T= n.967+34T= n.934+34T= | |
19 | g.11106723C>A | CA2582473831 | LDLR | c.1075+36C>A (n.1075+36C>A) c.817+36C>A (n.817+36C>A) c.1071+36C>A c.314-669C>A (n.314-669C>A) c.694+36C>A (n.694+36C>A) c.436+36C>A (n.436+36C>A) n.332+36C>A c.417+36C>A n.967+36C>A n.934+36C>A | gnomAD v4 |
19 | g.11106723C>T | CA2582473832 | LDLR | c.1075+36C>T (n.1075+36C>T) c.817+36C>T (n.817+36C>T) c.1071+36C>T c.314-669C>T (n.314-669C>T) c.694+36C>T (n.694+36C>T) c.436+36C>T (n.436+36C>T) n.332+36C>T c.417+36C>T n.967+36C>T n.934+36C>T | gnomAD v4 |
19 | g.11106727G>A | CA305298407 | LDLR | c.1075+40G>A (n.1075+40G>A) c.817+40G>A (n.817+40G>A) c.1071+40G>A c.314-665G>A (n.314-665G>A) c.694+40G>A (n.694+40G>A) c.436+40G>A (n.436+40G>A) n.332+40G>A c.417+40G>A n.967+40G>A n.934+40G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106727G= | CA2322768252 | LDLR | c.1075+40G= (n.1075+40G=) c.817+40G= (n.817+40G=) c.1071+40G= c.314-665G= (n.314-665G=) c.694+40G= (n.694+40G=) c.436+40G= (n.436+40G=) n.332+40G= c.417+40G= n.967+40G= n.934+40G= | |
19 | g.11106728dup | CA2838196471 | LDLR | c.1075+41dup (n.1075+41dup) c.817+41dup (n.817+41dup) c.1071+41dup c.314-664dup (n.314-664dup) c.694+41dup (n.694+41dup) c.436+41dup (n.436+41dup) n.332+41dup c.417+41dup n.967+41dup n.934+41dup | |
19 | g.11106729G>A | CA2582473833 | LDLR | c.1075+42G>A (n.1075+42G>A) c.817+42G>A (n.817+42G>A) c.1071+42G>A c.314-663G>A (n.314-663G>A) c.694+42G>A (n.694+42G>A) c.436+42G>A (n.436+42G>A) n.332+42G>A c.417+42G>A n.967+42G>A n.934+42G>A | gnomAD v4 |
19 | g.11106729G= | CA2322768253 | LDLR | c.1075+42G= (n.1075+42G=) c.817+42G= (n.817+42G=) c.1071+42G= c.314-663G= (n.314-663G=) c.694+42G= (n.694+42G=) c.436+42G= (n.436+42G=) n.332+42G= c.417+42G= n.967+42G= n.934+42G= | |
19 | g.11106729G>T | CA631763914 | LDLR | c.1075+42G>T (n.1075+42G>T) c.817+42G>T (n.817+42G>T) c.1071+42G>T c.314-663G>T (n.314-663G>T) c.694+42G>T (n.694+42G>T) c.436+42G>T (n.436+42G>T) n.332+42G>T c.417+42G>T n.967+42G>T n.934+42G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11106730C= | CA2322768254 | LDLR | c.1075+43C= (n.1075+43C=) c.817+43C= (n.817+43C=) c.1071+43C= c.314-662C= (n.314-662C=) c.694+43C= (n.694+43C=) c.436+43C= (n.436+43C=) n.332+43C= c.417+43C= n.967+43C= n.934+43C= | |
19 | g.11106730C>G | CA2576625924 | LDLR | c.1075+43C>G (n.1075+43C>G) c.817+43C>G (n.817+43C>G) c.1071+43C>G c.314-662C>G (n.314-662C>G) c.694+43C>G (n.694+43C>G) c.436+43C>G (n.436+43C>G) n.332+43C>G c.417+43C>G n.967+43C>G n.934+43C>G | gnomAD v4 |
19 | g.11106730C>T | CA305298409 | LDLR | c.1075+43C>T (n.1075+43C>T) c.817+43C>T (n.817+43C>T) c.1071+43C>T c.314-662C>T (n.314-662C>T) c.694+43C>T (n.694+43C>T) c.436+43C>T (n.436+43C>T) n.332+43C>T c.417+43C>T n.967+43C>T n.934+43C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11106731C>T | CA2582473834 | LDLR | c.1075+44C>T (n.1075+44C>T) c.817+44C>T (n.817+44C>T) c.1071+44C>T c.314-661C>T (n.314-661C>T) c.694+44C>T (n.694+44C>T) c.436+44C>T (n.436+44C>T) n.332+44C>T c.417+44C>T n.967+44C>T n.934+44C>T | gnomAD v4 |
19 | g.11106732T>C | CA2582473835 | LDLR | c.1075+45T>C (n.1075+45T>C) c.817+45T>C (n.817+45T>C) c.1071+45T>C c.314-660T>C (n.314-660T>C) c.694+45T>C (n.694+45T>C) c.436+45T>C (n.436+45T>C) n.332+45T>C c.417+45T>C n.967+45T>C n.934+45T>C | gnomAD v4 |