Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
19 | g.11106161_11107857del | CA2573050584 | LDLR | c.953-404_1198+343del c.695-404_940+343del c.949-404_1194+343del c.314-1231_436+343del c.572-404_817+343del c.314-404_559+343del c.295-404_540+343del n.845-404_1090+343del n.812-404_1057+343del | |
19 | g.11106209_11108573del | CA10585092 | LDLR | c.953-356_1198+1059del c.695-356_940+1059del c.949-356_1194+1059del c.314-1183_436+1059del c.572-356_817+1059del c.314-356_559+1059del c.295-356_540+1059del n.845-356_1090+1059del n.812-356_1057+1059del | ClinVar |
19 | g.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.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.11107087C= | CA2322768417 | LDLR | c.1076-305C= (n.1076-305C=) c.818-305C= (n.818-305C=) c.1072-305C= c.314-305C= (n.314-305C=) c.695-305C= (n.695-305C=) c.437-305C= (n.437-305C=) n.333-305C= c.418-305C= n.968-305C= n.935-305C= | |
19 | g.11107087C>T | CA305298471 | LDLR | c.1076-305C>T (n.1076-305C>T) c.818-305C>T (n.818-305C>T) c.1072-305C>T c.314-305C>T (n.314-305C>T) c.695-305C>T (n.695-305C>T) c.437-305C>T (n.437-305C>T) n.333-305C>T c.418-305C>T n.968-305C>T n.935-305C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107090A= | CA2322768418 | LDLR | c.1076-302A= (n.1076-302A=) c.818-302A= (n.818-302A=) c.1072-302A= c.314-302A= (n.314-302A=) c.695-302A= (n.695-302A=) c.437-302A= (n.437-302A=) n.333-302A= c.418-302A= n.968-302A= n.935-302A= | |
19 | g.11107090A>G | CA305298472 | LDLR | c.1076-302A>G (n.1076-302A>G) c.818-302A>G (n.818-302A>G) c.1072-302A>G c.314-302A>G (n.314-302A>G) c.695-302A>G (n.695-302A>G) c.437-302A>G (n.437-302A>G) n.333-302A>G c.418-302A>G n.968-302A>G n.935-302A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107093G>A | CA305298473 | LDLR | c.1076-299G>A (n.1076-299G>A) c.818-299G>A (n.818-299G>A) c.1072-299G>A c.314-299G>A (n.314-299G>A) c.695-299G>A (n.695-299G>A) c.437-299G>A (n.437-299G>A) n.333-299G>A c.418-299G>A n.968-299G>A n.935-299G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107093G= | CA2322768419 | LDLR | c.1076-299G= (n.1076-299G=) c.818-299G= (n.818-299G=) c.1072-299G= c.314-299G= (n.314-299G=) c.695-299G= (n.695-299G=) c.437-299G= (n.437-299G=) n.333-299G= c.418-299G= n.968-299G= n.935-299G= | |
19 | g.11107093G>T | CA783244254 | LDLR | c.1076-299G>T (n.1076-299G>T) c.818-299G>T (n.818-299G>T) c.1072-299G>T c.314-299G>T (n.314-299G>T) c.695-299G>T (n.695-299G>T) c.437-299G>T (n.437-299G>T) n.333-299G>T c.418-299G>T n.968-299G>T n.935-299G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107095G>A | CA2813590178 | LDLR | c.1076-297G>A (n.1076-297G>A) c.818-297G>A (n.818-297G>A) c.1072-297G>A c.314-297G>A (n.314-297G>A) c.695-297G>A (n.695-297G>A) c.437-297G>A (n.437-297G>A) n.333-297G>A c.418-297G>A n.968-297G>A n.935-297G>A | |
19 | g.11107097T>A | CA993533684 | LDLR | c.1076-295T>A (n.1076-295T>A) c.818-295T>A (n.818-295T>A) c.1072-295T>A c.314-295T>A (n.314-295T>A) c.695-295T>A (n.695-295T>A) c.437-295T>A (n.437-295T>A) n.333-295T>A c.418-295T>A n.968-295T>A n.935-295T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107097T= | CA2322768420 | LDLR | c.1076-295T= (n.1076-295T=) c.818-295T= (n.818-295T=) c.1072-295T= c.314-295T= (n.314-295T=) c.695-295T= (n.695-295T=) c.437-295T= (n.437-295T=) n.333-295T= c.418-295T= n.968-295T= n.935-295T= | |
19 | g.11107098A= | CA2322768421 | LDLR | c.1076-294A= (n.1076-294A=) c.818-294A= (n.818-294A=) c.1072-294A= c.314-294A= (n.314-294A=) c.695-294A= (n.695-294A=) c.437-294A= (n.437-294A=) n.333-294A= c.418-294A= n.968-294A= n.935-294A= | |
19 | g.11107098A>G | CA631763935 | LDLR | c.1076-294A>G (n.1076-294A>G) c.818-294A>G (n.818-294A>G) c.1072-294A>G c.314-294A>G (n.314-294A>G) c.695-294A>G (n.695-294A>G) c.437-294A>G (n.437-294A>G) n.333-294A>G c.418-294A>G n.968-294A>G n.935-294A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107102T>C | CA631763936 | LDLR | c.1076-290T>C (n.1076-290T>C) c.818-290T>C (n.818-290T>C) c.1072-290T>C c.314-290T>C (n.314-290T>C) c.695-290T>C (n.695-290T>C) c.437-290T>C (n.437-290T>C) n.333-290T>C c.418-290T>C n.968-290T>C n.935-290T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107102T= | CA2322768422 | LDLR | c.1076-290T= (n.1076-290T=) c.818-290T= (n.818-290T=) c.1072-290T= c.314-290T= (n.314-290T=) c.695-290T= (n.695-290T=) c.437-290T= (n.437-290T=) n.333-290T= c.418-290T= n.968-290T= n.935-290T= | |
19 | g.11107105C= | CA2322768423 | LDLR | c.1076-287C= (n.1076-287C=) c.818-287C= (n.818-287C=) c.1072-287C= c.314-287C= (n.314-287C=) c.695-287C= (n.695-287C=) c.437-287C= (n.437-287C=) n.333-287C= c.418-287C= n.968-287C= n.935-287C= | |
19 | g.11107105C>T | CA305298474 | LDLR | c.1076-287C>T (n.1076-287C>T) c.818-287C>T (n.818-287C>T) c.1072-287C>T c.314-287C>T (n.314-287C>T) c.695-287C>T (n.695-287C>T) c.437-287C>T (n.437-287C>T) n.333-287C>T c.418-287C>T n.968-287C>T n.935-287C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107107G>A | CA2322768425 | LDLR | c.1076-285G>A (n.1076-285G>A) c.818-285G>A (n.818-285G>A) c.1072-285G>A c.314-285G>A (n.314-285G>A) c.695-285G>A (n.695-285G>A) c.437-285G>A (n.437-285G>A) n.333-285G>A c.418-285G>A n.968-285G>A n.935-285G>A | dbSNP |
19 | g.11107107G= | CA2322768424 | LDLR | c.1076-285G= (n.1076-285G=) c.818-285G= (n.818-285G=) c.1072-285G= c.314-285G= (n.314-285G=) c.695-285G= (n.695-285G=) c.437-285G= (n.437-285G=) n.333-285G= c.418-285G= n.968-285G= n.935-285G= | |
19 | g.11107109T>C | CA631763937 | LDLR | c.1076-283T>C (n.1076-283T>C) c.818-283T>C (n.818-283T>C) c.1072-283T>C c.314-283T>C (n.314-283T>C) c.695-283T>C (n.695-283T>C) c.437-283T>C (n.437-283T>C) n.333-283T>C c.418-283T>C n.968-283T>C n.935-283T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107109T>G | CA783244261 | LDLR | c.1076-283T>G (n.1076-283T>G) c.818-283T>G (n.818-283T>G) c.1072-283T>G c.314-283T>G (n.314-283T>G) c.695-283T>G (n.695-283T>G) c.437-283T>G (n.437-283T>G) n.333-283T>G c.418-283T>G n.968-283T>G n.935-283T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107109T= | CA2322768426 | LDLR | c.1076-283T= (n.1076-283T=) c.818-283T= (n.818-283T=) c.1072-283T= c.314-283T= (n.314-283T=) c.695-283T= (n.695-283T=) c.437-283T= (n.437-283T=) n.333-283T= c.418-283T= n.968-283T= n.935-283T= | |
19 | g.11107111T>A | CA305298475 | LDLR | c.1076-281T>A (n.1076-281T>A) c.818-281T>A (n.818-281T>A) c.1072-281T>A c.314-281T>A (n.314-281T>A) c.695-281T>A (n.695-281T>A) c.437-281T>A (n.437-281T>A) n.333-281T>A c.418-281T>A n.968-281T>A n.935-281T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107111T= | CA2322768427 | LDLR | c.1076-281T= (n.1076-281T=) c.818-281T= (n.818-281T=) c.1072-281T= c.314-281T= (n.314-281T=) c.695-281T= (n.695-281T=) c.437-281T= (n.437-281T=) n.333-281T= c.418-281T= n.968-281T= n.935-281T= | |
19 | g.11107112G= | CA2322768429 | LDLR | c.1076-280G= (n.1076-280G=) c.818-280G= (n.818-280G=) c.1072-280G= c.314-280G= (n.314-280G=) c.695-280G= (n.695-280G=) c.437-280G= (n.437-280G=) n.333-280G= c.418-280G= n.968-280G= n.935-280G= | |
19 | g.11107112G>T | CA2322768428 | LDLR | c.1076-280G>T (n.1076-280G>T) c.818-280G>T (n.818-280G>T) c.1072-280G>T c.314-280G>T (n.314-280G>T) c.695-280G>T (n.695-280G>T) c.437-280G>T (n.437-280G>T) n.333-280G>T c.418-280G>T n.968-280G>T n.935-280G>T | dbSNP |
19 | g.11107115C= | CA2322768430 | LDLR | c.1076-277C= (n.1076-277C=) c.818-277C= (n.818-277C=) c.1072-277C= c.314-277C= (n.314-277C=) c.695-277C= (n.695-277C=) c.437-277C= (n.437-277C=) n.333-277C= c.418-277C= n.968-277C= n.935-277C= | |
19 | g.11107115C>T | CA2322768431 | LDLR | c.1076-277C>T (n.1076-277C>T) c.818-277C>T (n.818-277C>T) c.1072-277C>T c.314-277C>T (n.314-277C>T) c.695-277C>T (n.695-277C>T) c.437-277C>T (n.437-277C>T) n.333-277C>T c.418-277C>T n.968-277C>T n.935-277C>T | dbSNP |
19 | g.11107116C= | CA2322768432 | LDLR | c.1076-276C= (n.1076-276C=) c.818-276C= (n.818-276C=) c.1072-276C= c.314-276C= (n.314-276C=) c.695-276C= (n.695-276C=) c.437-276C= (n.437-276C=) n.333-276C= c.418-276C= n.968-276C= n.935-276C= | |
19 | g.11107116C>T | CA305298476 | LDLR | c.1076-276C>T (n.1076-276C>T) c.818-276C>T (n.818-276C>T) c.1072-276C>T c.314-276C>T (n.314-276C>T) c.695-276C>T (n.695-276C>T) c.437-276C>T (n.437-276C>T) n.333-276C>T c.418-276C>T n.968-276C>T n.935-276C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107119T>C | CA631763938 | LDLR | c.1076-273T>C (n.1076-273T>C) c.818-273T>C (n.818-273T>C) c.1072-273T>C c.314-273T>C (n.314-273T>C) c.695-273T>C (n.695-273T>C) c.437-273T>C (n.437-273T>C) n.333-273T>C c.418-273T>C n.968-273T>C n.935-273T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107119T= | CA2322768433 | LDLR | c.1076-273T= (n.1076-273T=) c.818-273T= (n.818-273T=) c.1072-273T= c.314-273T= (n.314-273T=) c.695-273T= (n.695-273T=) c.437-273T= (n.437-273T=) n.333-273T= c.418-273T= n.968-273T= n.935-273T= | |
19 | g.11107121C>A | CA2581939168 | LDLR | c.1076-271C>A (n.1076-271C>A) c.818-271C>A (n.818-271C>A) c.1072-271C>A c.314-271C>A (n.314-271C>A) c.695-271C>A (n.695-271C>A) c.437-271C>A (n.437-271C>A) n.333-271C>A c.418-271C>A n.968-271C>A n.935-271C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107121C= | CA2322768434 | LDLR | c.1076-271C= (n.1076-271C=) c.818-271C= (n.818-271C=) c.1072-271C= c.314-271C= (n.314-271C=) c.695-271C= (n.695-271C=) c.437-271C= (n.437-271C=) n.333-271C= c.418-271C= n.968-271C= n.935-271C= | |
19 | g.11107121C>T | CA305298477 | LDLR | c.1076-271C>T (n.1076-271C>T) c.818-271C>T (n.818-271C>T) c.1072-271C>T c.314-271C>T (n.314-271C>T) c.695-271C>T (n.695-271C>T) c.437-271C>T (n.437-271C>T) n.333-271C>T c.418-271C>T n.968-271C>T n.935-271C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107122G>A | CA305298478 | LDLR | c.1076-270G>A (n.1076-270G>A) c.818-270G>A (n.818-270G>A) c.1072-270G>A c.314-270G>A (n.314-270G>A) c.695-270G>A (n.695-270G>A) c.437-270G>A (n.437-270G>A) n.333-270G>A c.418-270G>A n.968-270G>A n.935-270G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107122G= | CA2322768435 | LDLR | c.1076-270G= (n.1076-270G=) c.818-270G= (n.818-270G=) c.1072-270G= c.314-270G= (n.314-270G=) c.695-270G= (n.695-270G=) c.437-270G= (n.437-270G=) n.333-270G= c.418-270G= n.968-270G= n.935-270G= | |
19 | g.11107122G>T | CA783244269 | LDLR | c.1076-270G>T (n.1076-270G>T) c.818-270G>T (n.818-270G>T) c.1072-270G>T c.314-270G>T (n.314-270G>T) c.695-270G>T (n.695-270G>T) c.437-270G>T (n.437-270G>T) n.333-270G>T c.418-270G>T n.968-270G>T n.935-270G>T | dbSNP |
19 | g.11107125A= | CA2322768436 | LDLR | c.1076-267A= (n.1076-267A=) c.818-267A= (n.818-267A=) c.1072-267A= c.314-267A= (n.314-267A=) c.695-267A= (n.695-267A=) c.437-267A= (n.437-267A=) n.333-267A= c.418-267A= n.968-267A= n.935-267A= | |
19 | g.11107125A>C | CA631764256 | LDLR | c.1076-267A>C (n.1076-267A>C) c.818-267A>C (n.818-267A>C) c.1072-267A>C c.314-267A>C (n.314-267A>C) c.695-267A>C (n.695-267A>C) c.437-267A>C (n.437-267A>C) n.333-267A>C c.418-267A>C n.968-267A>C n.935-267A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107125A>G | CA993533692 | LDLR | c.1076-267A>G (n.1076-267A>G) c.818-267A>G (n.818-267A>G) c.1072-267A>G c.314-267A>G (n.314-267A>G) c.695-267A>G (n.695-267A>G) c.437-267A>G (n.437-267A>G) n.333-267A>G c.418-267A>G n.968-267A>G n.935-267A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107128C>A | CA993533694 | LDLR | c.1076-264C>A (n.1076-264C>A) c.818-264C>A (n.818-264C>A) c.1072-264C>A c.314-264C>A (n.314-264C>A) c.695-264C>A (n.695-264C>A) c.437-264C>A (n.437-264C>A) n.333-264C>A c.418-264C>A n.968-264C>A n.935-264C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107128C= | CA2322768437 | LDLR | c.1076-264C= (n.1076-264C=) c.818-264C= (n.818-264C=) c.1072-264C= c.314-264C= (n.314-264C=) c.695-264C= (n.695-264C=) c.437-264C= (n.437-264C=) n.333-264C= c.418-264C= n.968-264C= n.935-264C= | |
19 | g.11107128C>G | CA2735396801 | LDLR | c.1076-264C>G (n.1076-264C>G) c.818-264C>G (n.818-264C>G) c.1072-264C>G c.314-264C>G (n.314-264C>G) c.695-264C>G (n.695-264C>G) c.437-264C>G (n.437-264C>G) n.333-264C>G c.418-264C>G n.968-264C>G n.935-264C>G | dbSNP |
19 | g.11107129C= | CA2322768440 | LDLR | c.1076-263C= (n.1076-263C=) c.818-263C= (n.818-263C=) c.1072-263C= c.314-263C= (n.314-263C=) c.695-263C= (n.695-263C=) c.437-263C= (n.437-263C=) n.333-263C= c.418-263C= n.968-263C= n.935-263C= | |
19 | g.11107129C>G | CA2322768439 | LDLR | c.1076-263C>G (n.1076-263C>G) c.818-263C>G (n.818-263C>G) c.1072-263C>G c.314-263C>G (n.314-263C>G) c.695-263C>G (n.695-263C>G) c.437-263C>G (n.437-263C>G) n.333-263C>G c.418-263C>G n.968-263C>G n.935-263C>G | dbSNP |
19 | g.11107129_11107130delinsCT | CA2322768438 | LDLR | c.1076-263_1076-262delinsCT (n.1076-263_1076-262delinsCT) c.818-263_818-262delinsCT (n.818-263_818-262delinsCT) c.1072-263_1072-262delinsCT c.314-263_314-262delinsCT (n.314-263_314-262delinsCT) c.695-263_695-262delinsCT (n.695-263_695-262delinsCT) c.437-263_437-262delinsCT (n.437-263_437-262delinsCT) n.333-263_333-262delinsCT c.418-263_418-262delinsCT n.968-263_968-262delinsCT n.935-263_935-262delinsCT | |
19 | g.11107130del | CA631764257 | LDLR | c.1076-262del (n.1076-262del) c.818-262del (n.818-262del) c.1072-262del c.314-262del (n.314-262del) c.695-262del (n.695-262del) c.437-262del (n.437-262del) n.333-262del c.418-262del n.968-262del n.935-262del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107130T>G | CA783244272 | LDLR | c.1076-262T>G (n.1076-262T>G) c.818-262T>G (n.818-262T>G) c.1072-262T>G c.314-262T>G (n.314-262T>G) c.695-262T>G (n.695-262T>G) c.437-262T>G (n.437-262T>G) n.333-262T>G c.418-262T>G n.968-262T>G n.935-262T>G | dbSNP |
19 | g.11107130T= | CA2322768441 | LDLR | c.1076-262T= (n.1076-262T=) c.818-262T= (n.818-262T=) c.1072-262T= c.314-262T= (n.314-262T=) c.695-262T= (n.695-262T=) c.437-262T= (n.437-262T=) n.333-262T= c.418-262T= n.968-262T= n.935-262T= | |
19 | g.11107132_11107133delinsAT | CA2322768442 | LDLR | c.1076-260_1076-259delinsAT (n.1076-260_1076-259delinsAT) c.818-260_818-259delinsAT (n.818-260_818-259delinsAT) c.1072-260_1072-259delinsAT c.314-260_314-259delinsAT (n.314-260_314-259delinsAT) c.695-260_695-259delinsAT (n.695-260_695-259delinsAT) c.437-260_437-259delinsAT (n.437-260_437-259delinsAT) n.333-260_333-259delinsAT c.418-260_418-259delinsAT n.968-260_968-259delinsAT n.935-260_935-259delinsAT | |
19 | g.11107133T>C | CA2813590192 | LDLR | c.1076-259T>C (n.1076-259T>C) c.818-259T>C (n.818-259T>C) c.1072-259T>C c.314-259T>C (n.314-259T>C) c.695-259T>C (n.695-259T>C) c.437-259T>C (n.437-259T>C) n.333-259T>C c.418-259T>C n.968-259T>C n.935-259T>C | |
19 | g.11107139_11107140insTTTTTTTT | CA993533705 | LDLR | c.1076-253_1076-252insTTTTTTTT (n.1076-253_1076-252insTTTTTTTT) c.818-253_818-252insTTTTTTTT (n.818-253_818-252insTTTTTTTT) c.1072-253_1072-252insTTTTTTTT c.314-253_314-252insTTTTTTTT (n.314-253_314-252insTTTTTTTT) c.695-253_695-252insTTTTTTTT (n.695-253_695-252insTTTTTTTT) c.437-253_437-252insTTTTTTTT (n.437-253_437-252insTTTTTTTT) n.333-253_333-252insTTTTTTTT c.418-253_418-252insTTTTTTTT n.968-253_968-252insTTTTTTTT n.935-253_935-252insTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTT | CA993533714 | LDLR | c.1076-253_1076-252insTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTT) c.818-253_818-252insTTTTTTTTT (n.818-253_818-252insTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTT c.314-253_314-252insTTTTTTTTT (n.314-253_314-252insTTTTTTTTT) c.695-253_695-252insTTTTTTTTT (n.695-253_695-252insTTTTTTTTT) c.437-253_437-252insTTTTTTTTT (n.437-253_437-252insTTTTTTTTT) n.333-253_333-252insTTTTTTTTT c.418-253_418-252insTTTTTTTTT n.968-253_968-252insTTTTTTTTT n.935-253_935-252insTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTT | CA993533726 | LDLR | c.1076-253_1076-252insTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTTTT | CA993533728 | LDLR | c.1076-253_1076-252insTTTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTTTTTTTTT | CA993533730 | LDLR | c.1076-253_1076-252insTTTTTTTTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTTTTTTTTTTT | CA993533731 | LDLR | c.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTTTTTTTTTTTTT | CA631764258 | LDLR | c.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTTTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTTTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTTTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTTTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTTTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTTTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTTTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTTTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTTTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTTTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTTTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTTTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107139_11107140insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA993533746 | LDLR | c.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1076-253_1076-252insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.818-253_818-252insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.818-253_818-252insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1072-253_1072-252insTTTTTTTTTTTTTTTTTTTTTTTTTT c.314-253_314-252insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.314-253_314-252insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.695-253_695-252insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.695-253_695-252insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.437-253_437-252insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.437-253_437-252insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.333-253_333-252insTTTTTTTTTTTTTTTTTTTTTTTTTT c.418-253_418-252insTTTTTTTTTTTTTTTTTTTTTTTTTT n.968-253_968-252insTTTTTTTTTTTTTTTTTTTTTTTTTT n.935-253_935-252insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
19 | g.11107139dup | CA2322768443 | LDLR | c.1076-253dup (n.1076-253dup) c.818-253dup (n.818-253dup) c.1072-253dup c.314-253dup (n.314-253dup) c.695-253dup (n.695-253dup) c.437-253dup (n.437-253dup) n.333-253dup c.418-253dup n.968-253dup n.935-253dup | dbSNP |
19 | g.11107139del | CA2322768444 | LDLR | c.1076-253del (n.1076-253del) c.818-253del (n.818-253del) c.1072-253del c.314-253del (n.314-253del) c.695-253del (n.695-253del) c.437-253del (n.437-253del) n.333-253del c.418-253del n.968-253del n.935-253del | dbSNP |
19 | g.11107135T>C | CA783244277 | LDLR | c.1076-257T>C (n.1076-257T>C) c.818-257T>C (n.818-257T>C) c.1072-257T>C c.314-257T>C (n.314-257T>C) c.695-257T>C (n.695-257T>C) c.437-257T>C (n.437-257T>C) n.333-257T>C c.418-257T>C n.968-257T>C n.935-257T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107135T= | CA2322768445 | LDLR | c.1076-257T= (n.1076-257T=) c.818-257T= (n.818-257T=) c.1072-257T= c.314-257T= (n.314-257T=) c.695-257T= (n.695-257T=) c.437-257T= (n.437-257T=) n.333-257T= c.418-257T= n.968-257T= n.935-257T= | |
19 | g.11107140G>C | CA993533752 | LDLR | c.1076-252G>C (n.1076-252G>C) c.818-252G>C (n.818-252G>C) c.1072-252G>C c.314-252G>C (n.314-252G>C) c.695-252G>C (n.695-252G>C) c.437-252G>C (n.437-252G>C) n.333-252G>C c.418-252G>C n.968-252G>C n.935-252G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107140G= | CA2322768446 | LDLR | c.1076-252G= (n.1076-252G=) c.818-252G= (n.818-252G=) c.1072-252G= c.314-252G= (n.314-252G=) c.695-252G= (n.695-252G=) c.437-252G= (n.437-252G=) n.333-252G= c.418-252G= n.968-252G= n.935-252G= | |
19 | g.11107140G>T | CA631764260 | LDLR | c.1076-252G>T (n.1076-252G>T) c.818-252G>T (n.818-252G>T) c.1072-252G>T c.314-252G>T (n.314-252G>T) c.695-252G>T (n.695-252G>T) c.437-252G>T (n.437-252G>T) n.333-252G>T c.418-252G>T n.968-252G>T n.935-252G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107140_11107142del | CA993533749 | LDLR | c.1076-252_1076-250del (n.1076-252_1076-250del) c.818-252_818-250del (n.818-252_818-250del) c.1072-252_1072-250del c.314-252_314-250del (n.314-252_314-250del) c.695-252_695-250del (n.695-252_695-250del) c.437-252_437-250del (n.437-252_437-250del) n.333-252_333-250del c.418-252_418-250del n.968-252_968-250del n.935-252_935-250del | gnomAD v3 gnomAD v4 |
19 | g.11107142A>T | CA631764261 | LDLR | c.1076-250A>T (n.1076-250A>T) c.818-250A>T (n.818-250A>T) c.1072-250A>T c.314-250A>T (n.314-250A>T) c.695-250A>T (n.695-250A>T) c.437-250A>T (n.437-250A>T) n.333-250A>T c.418-250A>T n.968-250A>T n.935-250A>T | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107148A>T | CA993533756 | LDLR | c.1076-244A>T (n.1076-244A>T) c.818-244A>T (n.818-244A>T) c.1072-244A>T c.314-244A>T (n.314-244A>T) c.695-244A>T (n.695-244A>T) c.437-244A>T (n.437-244A>T) n.333-244A>T c.418-244A>T n.968-244A>T n.935-244A>T | gnomAD v3 gnomAD v4 |
19 | g.11107149G>C | CA631764263 | LDLR | c.1076-243G>C (n.1076-243G>C) c.818-243G>C (n.818-243G>C) c.1072-243G>C c.314-243G>C (n.314-243G>C) c.695-243G>C (n.695-243G>C) c.437-243G>C (n.437-243G>C) n.333-243G>C c.418-243G>C n.968-243G>C n.935-243G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107149G= | CA2322768447 | LDLR | c.1076-243G= (n.1076-243G=) c.818-243G= (n.818-243G=) c.1072-243G= c.314-243G= (n.314-243G=) c.695-243G= (n.695-243G=) c.437-243G= (n.437-243G=) n.333-243G= c.418-243G= n.968-243G= n.935-243G= | |
19 | g.11107149G>T | CA993533757 | LDLR | c.1076-243G>T (n.1076-243G>T) c.818-243G>T (n.818-243G>T) c.1072-243G>T c.314-243G>T (n.314-243G>T) c.695-243G>T (n.695-243G>T) c.437-243G>T (n.437-243G>T) n.333-243G>T c.418-243G>T n.968-243G>T n.935-243G>T | gnomAD v3 gnomAD v4 |
19 | g.11107150T>G | CA2322768449 | LDLR | c.1076-242T>G (n.1076-242T>G) c.818-242T>G (n.818-242T>G) c.1072-242T>G c.314-242T>G (n.314-242T>G) c.695-242T>G (n.695-242T>G) c.437-242T>G (n.437-242T>G) n.333-242T>G c.418-242T>G n.968-242T>G n.935-242T>G | dbSNP |
19 | g.11107150T= | CA2322768448 | LDLR | c.1076-242T= (n.1076-242T=) c.818-242T= (n.818-242T=) c.1072-242T= c.314-242T= (n.314-242T=) c.695-242T= (n.695-242T=) c.437-242T= (n.437-242T=) n.333-242T= c.418-242T= n.968-242T= n.935-242T= | |
19 | g.11107151_11107160del | CA2581939169 | LDLR | c.1076-241_1076-232del (n.1076-241_1076-232del) c.818-241_818-232del (n.818-241_818-232del) c.1072-241_1072-232del c.314-241_314-232del (n.314-241_314-232del) c.695-241_695-232del (n.695-241_695-232del) c.437-241_437-232del (n.437-241_437-232del) n.333-241_333-232del c.418-241_418-232del n.968-241_968-232del n.935-241_935-232del | gnomAD v3 gnomAD v4 |
19 | g.11107152G>A | CA783244280 | LDLR | c.1076-240G>A (n.1076-240G>A) c.818-240G>A (n.818-240G>A) c.1072-240G>A c.314-240G>A (n.314-240G>A) c.695-240G>A (n.695-240G>A) c.437-240G>A (n.437-240G>A) n.333-240G>A c.418-240G>A n.968-240G>A n.935-240G>A | dbSNP |
19 | g.11107152G= | CA2322768450 | LDLR | c.1076-240G= (n.1076-240G=) c.818-240G= (n.818-240G=) c.1072-240G= c.314-240G= (n.314-240G=) c.695-240G= (n.695-240G=) c.437-240G= (n.437-240G=) n.333-240G= c.418-240G= n.968-240G= n.935-240G= | |
19 | g.11107153A= | CA2322768451 | LDLR | c.1076-239A= (n.1076-239A=) c.818-239A= (n.818-239A=) c.1072-239A= c.314-239A= (n.314-239A=) c.695-239A= (n.695-239A=) c.437-239A= (n.437-239A=) n.333-239A= c.418-239A= n.968-239A= n.935-239A= | |
19 | g.11107153A>C | CA631764264 | LDLR | c.1076-239A>C (n.1076-239A>C) c.818-239A>C (n.818-239A>C) c.1072-239A>C c.314-239A>C (n.314-239A>C) c.695-239A>C (n.695-239A>C) c.437-239A>C (n.437-239A>C) n.333-239A>C c.418-239A>C n.968-239A>C n.935-239A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107158C= | CA2322768452 | LDLR | c.1076-234C= (n.1076-234C=) c.818-234C= (n.818-234C=) c.1072-234C= c.314-234C= (n.314-234C=) c.695-234C= (n.695-234C=) c.437-234C= (n.437-234C=) n.333-234C= c.418-234C= n.968-234C= n.935-234C= | |
19 | g.11107158C>T | CA305298479 | LDLR | c.1076-234C>T (n.1076-234C>T) c.818-234C>T (n.818-234C>T) c.1072-234C>T c.314-234C>T (n.314-234C>T) c.695-234C>T (n.695-234C>T) c.437-234C>T (n.437-234C>T) n.333-234C>T c.418-234C>T n.968-234C>T n.935-234C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107159G>A | CA305298480 | LDLR | c.1076-233G>A (n.1076-233G>A) c.818-233G>A (n.818-233G>A) c.1072-233G>A c.314-233G>A (n.314-233G>A) c.695-233G>A (n.695-233G>A) c.437-233G>A (n.437-233G>A) n.333-233G>A c.418-233G>A n.968-233G>A n.935-233G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107159G= | CA2322768453 | LDLR | c.1076-233G= (n.1076-233G=) c.818-233G= (n.818-233G=) c.1072-233G= c.314-233G= (n.314-233G=) c.695-233G= (n.695-233G=) c.437-233G= (n.437-233G=) n.333-233G= c.418-233G= n.968-233G= n.935-233G= | |
19 | g.11107165G>A | CA2322768455 | LDLR | c.1076-227G>A (n.1076-227G>A) c.818-227G>A (n.818-227G>A) c.1072-227G>A c.314-227G>A (n.314-227G>A) c.695-227G>A (n.695-227G>A) c.437-227G>A (n.437-227G>A) n.333-227G>A c.418-227G>A n.968-227G>A n.935-227G>A | dbSNP |
19 | g.11107165G>C | CA783244285 | LDLR | c.1076-227G>C (n.1076-227G>C) c.818-227G>C (n.818-227G>C) c.1072-227G>C c.314-227G>C (n.314-227G>C) c.695-227G>C (n.695-227G>C) c.437-227G>C (n.437-227G>C) n.333-227G>C c.418-227G>C n.968-227G>C n.935-227G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107165G= | CA2322768454 | LDLR | c.1076-227G= (n.1076-227G=) c.818-227G= (n.818-227G=) c.1072-227G= c.314-227G= (n.314-227G=) c.695-227G= (n.695-227G=) c.437-227G= (n.437-227G=) n.333-227G= c.418-227G= n.968-227G= n.935-227G= | |
19 | g.11107169T>C | CA305298481 | LDLR | c.1076-223T>C (n.1076-223T>C) c.818-223T>C (n.818-223T>C) c.1072-223T>C c.314-223T>C (n.314-223T>C) c.695-223T>C (n.695-223T>C) c.437-223T>C (n.437-223T>C) n.333-223T>C c.418-223T>C n.968-223T>C n.935-223T>C | dbSNP |
19 | g.11107169T= | CA2322768456 | LDLR | c.1076-223T= (n.1076-223T=) c.818-223T= (n.818-223T=) c.1072-223T= c.314-223T= (n.314-223T=) c.695-223T= (n.695-223T=) c.437-223T= (n.437-223T=) n.333-223T= c.418-223T= n.968-223T= n.935-223T= | |
19 | g.11107171T>C | CA305298482 | LDLR | c.1076-221T>C (n.1076-221T>C) c.818-221T>C (n.818-221T>C) c.1072-221T>C c.314-221T>C (n.314-221T>C) c.695-221T>C (n.695-221T>C) c.437-221T>C (n.437-221T>C) n.333-221T>C c.418-221T>C n.968-221T>C n.935-221T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107171T= | CA2322768457 | LDLR | c.1076-221T= (n.1076-221T=) c.818-221T= (n.818-221T=) c.1072-221T= c.314-221T= (n.314-221T=) c.695-221T= (n.695-221T=) c.437-221T= (n.437-221T=) n.333-221T= c.418-221T= n.968-221T= n.935-221T= | |
19 | g.11107173G>A | CA631764269 | LDLR | c.1076-219G>A (n.1076-219G>A) c.818-219G>A (n.818-219G>A) c.1072-219G>A c.314-219G>A (n.314-219G>A) c.695-219G>A (n.695-219G>A) c.437-219G>A (n.437-219G>A) n.333-219G>A c.418-219G>A n.968-219G>A n.935-219G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11107173G= | CA2322768458 | LDLR | c.1076-219G= (n.1076-219G=) c.818-219G= (n.818-219G=) c.1072-219G= c.314-219G= (n.314-219G=) c.695-219G= (n.695-219G=) c.437-219G= (n.437-219G=) n.333-219G= c.418-219G= n.968-219G= n.935-219G= | |
19 | g.11107174C= | CA2322768459 | LDLR | c.1076-218C= (n.1076-218C=) c.818-218C= (n.818-218C=) c.1072-218C= c.314-218C= (n.314-218C=) c.695-218C= (n.695-218C=) c.437-218C= (n.437-218C=) n.333-218C= c.418-218C= n.968-218C= n.935-218C= | |
19 | g.11107174C>T | CA505485040 | LDLR | c.1076-218C>T (n.1076-218C>T) c.818-218C>T (n.818-218C>T) c.1072-218C>T c.314-218C>T (n.314-218C>T) c.695-218C>T (n.695-218C>T) c.437-218C>T (n.437-218C>T) n.333-218C>T c.418-218C>T n.968-218C>T n.935-218C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107176C= | CA2322768460 | LDLR | c.1076-216C= (n.1076-216C=) c.818-216C= (n.818-216C=) c.1072-216C= c.314-216C= (n.314-216C=) c.695-216C= (n.695-216C=) c.437-216C= (n.437-216C=) n.333-216C= c.418-216C= n.968-216C= n.935-216C= | |
19 | g.11107176C>G | CA2322768461 | LDLR | c.1076-216C>G (n.1076-216C>G) c.818-216C>G (n.818-216C>G) c.1072-216C>G c.314-216C>G (n.314-216C>G) c.695-216C>G (n.695-216C>G) c.437-216C>G (n.437-216C>G) n.333-216C>G c.418-216C>G n.968-216C>G n.935-216C>G | dbSNP |
19 | g.11107177A= | CA2322768462 | LDLR | c.1076-215A= (n.1076-215A=) c.818-215A= (n.818-215A=) c.1072-215A= c.314-215A= (n.314-215A=) c.695-215A= (n.695-215A=) c.437-215A= (n.437-215A=) n.333-215A= c.418-215A= n.968-215A= n.935-215A= | |
19 | g.11107177A>C | CA2322768463 | LDLR | c.1076-215A>C (n.1076-215A>C) c.818-215A>C (n.818-215A>C) c.1072-215A>C c.314-215A>C (n.314-215A>C) c.695-215A>C (n.695-215A>C) c.437-215A>C (n.437-215A>C) n.333-215A>C c.418-215A>C n.968-215A>C n.935-215A>C | dbSNP |
19 | g.11107177A>G | CA993533764 | LDLR | c.1076-215A>G (n.1076-215A>G) c.818-215A>G (n.818-215A>G) c.1072-215A>G c.314-215A>G (n.314-215A>G) c.695-215A>G (n.695-215A>G) c.437-215A>G (n.437-215A>G) n.333-215A>G c.418-215A>G n.968-215A>G n.935-215A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107183G= | CA2322768464 | LDLR | c.1076-209G= (n.1076-209G=) c.818-209G= (n.818-209G=) c.1072-209G= c.314-209G= (n.314-209G=) c.695-209G= (n.695-209G=) c.437-209G= (n.437-209G=) n.333-209G= c.418-209G= n.968-209G= n.935-209G= | |
19 | g.11107185_11107195dup | CA993533765 | LDLR | c.1076-207_1076-197dup (n.1076-207_1076-197dup) c.818-207_818-197dup (n.818-207_818-197dup) c.1072-207_1072-197dup c.314-207_314-197dup (n.314-207_314-197dup) c.695-207_695-197dup (n.695-207_695-197dup) c.437-207_437-197dup (n.437-207_437-197dup) n.333-207_333-197dup c.418-207_418-197dup n.968-207_968-197dup n.935-207_935-197dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11107185C= | CA2322768465 | LDLR | c.1076-207C= (n.1076-207C=) c.818-207C= (n.818-207C=) c.1072-207C= c.314-207C= (n.314-207C=) c.695-207C= (n.695-207C=) c.437-207C= (n.437-207C=) n.333-207C= c.418-207C= n.968-207C= n.935-207C= | |
19 | g.11107185C>T | CA2322768466 | LDLR | c.1076-207C>T (n.1076-207C>T) c.818-207C>T (n.818-207C>T) c.1072-207C>T c.314-207C>T (n.314-207C>T) c.695-207C>T (n.695-207C>T) c.437-207C>T (n.437-207C>T) n.333-207C>T c.418-207C>T n.968-207C>T n.935-207C>T | dbSNP |
19 | g.11107187C= | CA2322768467 | LDLR | c.1076-205C= (n.1076-205C=) c.818-205C= (n.818-205C=) c.1072-205C= c.314-205C= (n.314-205C=) c.695-205C= (n.695-205C=) c.437-205C= (n.437-205C=) n.333-205C= c.418-205C= n.968-205C= n.935-205C= | |
19 | g.11107187C>G | CA305298483 | LDLR | c.1076-205C>G (n.1076-205C>G) c.818-205C>G (n.818-205C>G) c.1072-205C>G c.314-205C>G (n.314-205C>G) c.695-205C>G (n.695-205C>G) c.437-205C>G (n.437-205C>G) n.333-205C>G c.418-205C>G n.968-205C>G n.935-205C>G | dbSNP gnomAD v3 |
19 | g.11107187C>T | CA631764271 | LDLR | c.1076-205C>T (n.1076-205C>T) c.818-205C>T (n.818-205C>T) c.1072-205C>T c.314-205C>T (n.314-205C>T) c.695-205C>T (n.695-205C>T) c.437-205C>T (n.437-205C>T) n.333-205C>T c.418-205C>T n.968-205C>T n.935-205C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |