UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 19 | g.11107188G>A | CA2735360671 | LDLR | c.1076-204G>A (n.1076-204G>A) c.818-204G>A (n.818-204G>A) c.1072-204G>A c.314-204G>A (n.314-204G>A) c.695-204G>A (n.695-204G>A) c.437-204G>A (n.437-204G>A) n.333-204G>A c.418-204G>A n.968-204G>A n.935-204G>A | dbSNP |
| 19 | g.11107188G= | CA2322768468 | LDLR | c.1076-204G= (n.1076-204G=) c.818-204G= (n.818-204G=) c.1072-204G= c.314-204G= (n.314-204G=) c.695-204G= (n.695-204G=) c.437-204G= (n.437-204G=) n.333-204G= c.418-204G= n.968-204G= n.935-204G= | |
| 19 | g.11107188G>T | CA783244295 | LDLR | c.1076-204G>T (n.1076-204G>T) c.818-204G>T (n.818-204G>T) c.1072-204G>T c.314-204G>T (n.314-204G>T) c.695-204G>T (n.695-204G>T) c.437-204G>T (n.437-204G>T) n.333-204G>T c.418-204G>T n.968-204G>T n.935-204G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107192T>C | CA305298484 | LDLR | c.1076-200T>C (n.1076-200T>C) c.818-200T>C (n.818-200T>C) c.1072-200T>C c.314-200T>C (n.314-200T>C) c.695-200T>C (n.695-200T>C) c.437-200T>C (n.437-200T>C) n.333-200T>C c.418-200T>C n.968-200T>C n.935-200T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107192T= | CA2322768469 | LDLR | c.1076-200T= (n.1076-200T=) c.818-200T= (n.818-200T=) c.1072-200T= c.314-200T= (n.314-200T=) c.695-200T= (n.695-200T=) c.437-200T= (n.437-200T=) n.333-200T= c.418-200T= n.968-200T= n.935-200T= | |
| 19 | g.11107193C= | CA2322768470 | LDLR | c.1076-199C= (n.1076-199C=) c.818-199C= (n.818-199C=) c.1072-199C= c.314-199C= (n.314-199C=) c.695-199C= (n.695-199C=) c.437-199C= (n.437-199C=) n.333-199C= c.418-199C= n.968-199C= n.935-199C= | |
| 19 | g.11107193C>T | CA2322768471 | LDLR | c.1076-199C>T (n.1076-199C>T) c.818-199C>T (n.818-199C>T) c.1072-199C>T c.314-199C>T (n.314-199C>T) c.695-199C>T (n.695-199C>T) c.437-199C>T (n.437-199C>T) n.333-199C>T c.418-199C>T n.968-199C>T n.935-199C>T | dbSNP |
| 19 | g.11107199C>A | CA783244301 | LDLR | c.1076-193C>A (n.1076-193C>A) c.818-193C>A (n.818-193C>A) c.1072-193C>A c.314-193C>A (n.314-193C>A) c.695-193C>A (n.695-193C>A) c.437-193C>A (n.437-193C>A) n.333-193C>A c.418-193C>A n.968-193C>A n.935-193C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107199C= | CA2322768472 | LDLR | c.1076-193C= (n.1076-193C=) c.818-193C= (n.818-193C=) c.1072-193C= c.314-193C= (n.314-193C=) c.695-193C= (n.695-193C=) c.437-193C= (n.437-193C=) n.333-193C= c.418-193C= n.968-193C= n.935-193C= | |
| 19 | g.11107202A= | CA2322768473 | LDLR | c.1076-190A= (n.1076-190A=) c.818-190A= (n.818-190A=) c.1072-190A= c.314-190A= (n.314-190A=) c.695-190A= (n.695-190A=) c.437-190A= (n.437-190A=) n.333-190A= c.418-190A= n.968-190A= n.935-190A= | |
| 19 | g.11107202A>G | CA2322768474 | LDLR | c.1076-190A>G (n.1076-190A>G) c.818-190A>G (n.818-190A>G) c.1072-190A>G c.314-190A>G (n.314-190A>G) c.695-190A>G (n.695-190A>G) c.437-190A>G (n.437-190A>G) n.333-190A>G c.418-190A>G n.968-190A>G n.935-190A>G | dbSNP |
| 19 | g.11107205C>A | CA305298486 | LDLR | c.1076-187C>A (n.1076-187C>A) c.818-187C>A (n.818-187C>A) c.1072-187C>A c.314-187C>A (n.314-187C>A) c.695-187C>A (n.695-187C>A) c.437-187C>A (n.437-187C>A) n.333-187C>A c.418-187C>A n.968-187C>A n.935-187C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107205C= | CA2322768475 | LDLR | c.1076-187C= (n.1076-187C=) c.818-187C= (n.818-187C=) c.1072-187C= c.314-187C= (n.314-187C=) c.695-187C= (n.695-187C=) c.437-187C= (n.437-187C=) n.333-187C= c.418-187C= n.968-187C= n.935-187C= | |
| 19 | g.11107205C>G | CA2503063648 | LDLR | c.1076-187C>G (n.1076-187C>G) c.818-187C>G (n.818-187C>G) c.1072-187C>G c.314-187C>G (n.314-187C>G) c.695-187C>G (n.695-187C>G) c.437-187C>G (n.437-187C>G) n.333-187C>G c.418-187C>G n.968-187C>G n.935-187C>G | |
| 19 | g.11107205C>T | CA2322768476 | LDLR | c.1076-187C>T (n.1076-187C>T) c.818-187C>T (n.818-187C>T) c.1072-187C>T c.314-187C>T (n.314-187C>T) c.695-187C>T (n.695-187C>T) c.437-187C>T (n.437-187C>T) n.333-187C>T c.418-187C>T n.968-187C>T n.935-187C>T | dbSNP |
| 19 | g.11107206G>A | CA783244304 | LDLR | c.1076-186G>A (n.1076-186G>A) c.818-186G>A (n.818-186G>A) c.1072-186G>A c.314-186G>A (n.314-186G>A) c.695-186G>A (n.695-186G>A) c.437-186G>A (n.437-186G>A) n.333-186G>A c.418-186G>A n.968-186G>A n.935-186G>A | dbSNP |
| 19 | g.11107206G= | CA2322768477 | LDLR | c.1076-186G= (n.1076-186G=) c.818-186G= (n.818-186G=) c.1072-186G= c.314-186G= (n.314-186G=) c.695-186G= (n.695-186G=) c.437-186G= (n.437-186G=) n.333-186G= c.418-186G= n.968-186G= n.935-186G= | |
| 19 | g.11107213C= | CA2322768478 | LDLR | c.1076-179C= (n.1076-179C=) c.818-179C= (n.818-179C=) c.1072-179C= c.314-179C= (n.314-179C=) c.695-179C= (n.695-179C=) c.437-179C= (n.437-179C=) n.333-179C= c.418-179C= n.968-179C= n.935-179C= | |
| 19 | g.11107213C>T | CA993533774 | LDLR | c.1076-179C>T (n.1076-179C>T) c.818-179C>T (n.818-179C>T) c.1072-179C>T c.314-179C>T (n.314-179C>T) c.695-179C>T (n.695-179C>T) c.437-179C>T (n.437-179C>T) n.333-179C>T c.418-179C>T n.968-179C>T n.935-179C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107214T>C | CA2813590197 | LDLR | c.1076-178T>C (n.1076-178T>C) c.818-178T>C (n.818-178T>C) c.1072-178T>C c.314-178T>C (n.314-178T>C) c.695-178T>C (n.695-178T>C) c.437-178T>C (n.437-178T>C) n.333-178T>C c.418-178T>C n.968-178T>C n.935-178T>C | |
| 19 | g.11107215_11107216delinsGC | CA2322768479 | LDLR | c.1076-177_1076-176delinsGC (n.1076-177_1076-176delinsGC) c.818-177_818-176delinsGC (n.818-177_818-176delinsGC) c.1072-177_1072-176delinsGC c.314-177_314-176delinsGC (n.314-177_314-176delinsGC) c.695-177_695-176delinsGC (n.695-177_695-176delinsGC) c.437-177_437-176delinsGC (n.437-177_437-176delinsGC) n.333-177_333-176delinsGC c.418-177_418-176delinsGC n.968-177_968-176delinsGC n.935-177_935-176delinsGC | |
| 19 | g.11107217del | CA2322768480 | LDLR | c.1076-175del (n.1076-175del) c.818-175del (n.818-175del) c.1072-175del c.314-175del (n.314-175del) c.695-175del (n.695-175del) c.437-175del (n.437-175del) n.333-175del c.418-175del n.968-175del n.935-175del | dbSNP |
| 19 | g.11107221G>A | CA2580651308 | LDLR | c.1076-171G>A (n.1076-171G>A) c.818-171G>A (n.818-171G>A) c.1072-171G>A c.314-171G>A (n.314-171G>A) c.695-171G>A (n.695-171G>A) c.437-171G>A (n.437-171G>A) n.333-171G>A c.418-171G>A n.968-171G>A n.935-171G>A | dbSNP gnomAD v3 |
| 19 | g.11107223C>A | CA2741610415 | LDLR | c.1076-169C>A (n.1076-169C>A) c.818-169C>A (n.818-169C>A) c.1072-169C>A c.314-169C>A (n.314-169C>A) c.695-169C>A (n.695-169C>A) c.437-169C>A (n.437-169C>A) n.333-169C>A c.418-169C>A n.968-169C>A n.935-169C>A | |
| 19 | g.11107223C= | CA2322768481 | LDLR | c.1076-169C= (n.1076-169C=) c.818-169C= (n.818-169C=) c.1072-169C= c.314-169C= (n.314-169C=) c.695-169C= (n.695-169C=) c.437-169C= (n.437-169C=) n.333-169C= c.418-169C= n.968-169C= n.935-169C= | |
| 19 | g.11107223C>T | CA993533776 | LDLR | c.1076-169C>T (n.1076-169C>T) c.818-169C>T (n.818-169C>T) c.1072-169C>T c.314-169C>T (n.314-169C>T) c.695-169C>T (n.695-169C>T) c.437-169C>T (n.437-169C>T) n.333-169C>T c.418-169C>T n.968-169C>T n.935-169C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107228A= | CA2322768482 | LDLR | c.1076-164A= (n.1076-164A=) c.818-164A= (n.818-164A=) c.1072-164A= c.314-164A= (n.314-164A=) c.695-164A= (n.695-164A=) c.437-164A= (n.437-164A=) n.333-164A= c.418-164A= n.968-164A= n.935-164A= | |
| 19 | g.11107228A>G | CA2322768483 | LDLR | c.1076-164A>G (n.1076-164A>G) c.818-164A>G (n.818-164A>G) c.1072-164A>G c.314-164A>G (n.314-164A>G) c.695-164A>G (n.695-164A>G) c.437-164A>G (n.437-164A>G) n.333-164A>G c.418-164A>G n.968-164A>G n.935-164A>G | dbSNP |
| 19 | g.11107229A= | CA2322768484 | LDLR | c.1076-163A= (n.1076-163A=) c.818-163A= (n.818-163A=) c.1072-163A= c.314-163A= (n.314-163A=) c.695-163A= (n.695-163A=) c.437-163A= (n.437-163A=) n.333-163A= c.418-163A= n.968-163A= n.935-163A= | |
| 19 | g.11107229A>G | CA783244320 | LDLR | c.1076-163A>G (n.1076-163A>G) c.818-163A>G (n.818-163A>G) c.1072-163A>G c.314-163A>G (n.314-163A>G) c.695-163A>G (n.695-163A>G) c.437-163A>G (n.437-163A>G) n.333-163A>G c.418-163A>G n.968-163A>G n.935-163A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107233G>C | CA993533779 | LDLR | c.1076-159G>C (n.1076-159G>C) c.818-159G>C (n.818-159G>C) c.1072-159G>C c.314-159G>C (n.314-159G>C) c.695-159G>C (n.695-159G>C) c.437-159G>C (n.437-159G>C) n.333-159G>C c.418-159G>C n.968-159G>C n.935-159G>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107233G= | CA2322768485 | LDLR | c.1076-159G= (n.1076-159G=) c.818-159G= (n.818-159G=) c.1072-159G= c.314-159G= (n.314-159G=) c.695-159G= (n.695-159G=) c.437-159G= (n.437-159G=) n.333-159G= c.418-159G= n.968-159G= n.935-159G= | |
| 19 | g.11107239A= | CA2322768486 | LDLR | c.1076-153A= (n.1076-153A=) c.818-153A= (n.818-153A=) c.1072-153A= c.314-153A= (n.314-153A=) c.695-153A= (n.695-153A=) c.437-153A= (n.437-153A=) n.333-153A= c.418-153A= n.968-153A= n.935-153A= | |
| 19 | g.11107239A>G | CA2322768487 | LDLR | c.1076-153A>G (n.1076-153A>G) c.818-153A>G (n.818-153A>G) c.1072-153A>G c.314-153A>G (n.314-153A>G) c.695-153A>G (n.695-153A>G) c.437-153A>G (n.437-153A>G) n.333-153A>G c.418-153A>G n.968-153A>G n.935-153A>G | dbSNP |
| 19 | g.11107240T>C | CA993533780 | LDLR | c.1076-152T>C (n.1076-152T>C) c.818-152T>C (n.818-152T>C) c.1072-152T>C c.314-152T>C (n.314-152T>C) c.695-152T>C (n.695-152T>C) c.437-152T>C (n.437-152T>C) n.333-152T>C c.418-152T>C n.968-152T>C n.935-152T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11107240T= | CA2322768488 | LDLR | c.1076-152T= (n.1076-152T=) c.818-152T= (n.818-152T=) c.1072-152T= c.314-152T= (n.314-152T=) c.695-152T= (n.695-152T=) c.437-152T= (n.437-152T=) n.333-152T= c.418-152T= n.968-152T= n.935-152T= | |
| 19 | g.11107241T>C | CA2582473902 | LDLR | c.1076-151T>C (n.1076-151T>C) c.818-151T>C (n.818-151T>C) c.1072-151T>C c.314-151T>C (n.314-151T>C) c.695-151T>C (n.695-151T>C) c.437-151T>C (n.437-151T>C) n.333-151T>C c.418-151T>C n.968-151T>C n.935-151T>C | gnomAD v4 |