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.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11105600_11106565del | CA10585087 | LDLR | c.952_953del c.694_695del c.948_949del c.314-1792_314-827del (n.314-1792_314-827del) c.571_572del c.314-965_314del c.294_295del n.844_845del n.811_812del | ClinVar |
| 19 | g.11105601_11106564dup | CA2695195457 | LDLR | c.952+1_953-1dup c.694+1_695-1dup c.948+1_949-1dup c.314-1791_314-828dup (n.314-1791_314-828dup) c.571+1_572-1dup c.314-964_314-1dup (n.314-964_314-1dup) c.294+1_295-1dup n.844+1_845-1dup n.811+1_812-1dup | |
| 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.11106529_11106531del | CA2582473811 | LDLR | c.953-36_953-34del (n.953-36_953-34del) c.695-36_695-34del (n.695-36_695-34del) c.949-36_949-34del c.314-863_314-861del (n.314-863_314-861del) c.572-36_572-34del (n.572-36_572-34del) c.314-36_314-34del (n.314-36_314-34del) n.174_176del c.295-36_295-34del n.845-36_845-34del n.812-36_812-34del | gnomAD v4 |
| 19 | g.11106527T>C | CA2582473814 | LDLR | c.953-38T>C (n.953-38T>C) c.695-38T>C (n.695-38T>C) c.949-38T>C c.314-865T>C (n.314-865T>C) c.572-38T>C (n.572-38T>C) c.314-38T>C (n.314-38T>C) n.172T>C c.295-38T>C n.845-38T>C n.812-38T>C | gnomAD v4 |
| 19 | g.11106530T>A | CA2322768125 | LDLR | c.953-35T>A (n.953-35T>A) c.695-35T>A (n.695-35T>A) c.949-35T>A c.314-862T>A (n.314-862T>A) c.572-35T>A (n.572-35T>A) c.314-35T>A (n.314-35T>A) n.175T>A c.295-35T>A n.845-35T>A n.812-35T>A | dbSNP |
| 19 | g.11106530T>C | CA2582473815 | LDLR | c.953-35T>C (n.953-35T>C) c.695-35T>C (n.695-35T>C) c.949-35T>C c.314-862T>C (n.314-862T>C) c.572-35T>C (n.572-35T>C) c.314-35T>C (n.314-35T>C) n.175T>C c.295-35T>C n.845-35T>C n.812-35T>C | gnomAD v4 |
| 19 | g.11106530T= | CA2322768124 | LDLR | c.953-35T= (n.953-35T=) c.695-35T= (n.695-35T=) c.949-35T= c.314-862T= (n.314-862T=) c.572-35T= (n.572-35T=) c.314-35T= (n.314-35T=) n.175T= c.295-35T= n.845-35T= n.812-35T= | |
| 19 | g.11106531T>G | CA2576625870 | LDLR | c.953-34T>G (n.953-34T>G) c.695-34T>G (n.695-34T>G) c.949-34T>G c.314-861T>G (n.314-861T>G) c.572-34T>G (n.572-34T>G) c.314-34T>G (n.314-34T>G) n.176T>G c.295-34T>G n.845-34T>G n.812-34T>G | gnomAD v4 |
| 19 | g.11106533A>G | CA2582473816 | LDLR | c.953-32A>G (n.953-32A>G) c.695-32A>G (n.695-32A>G) c.949-32A>G c.314-859A>G (n.314-859A>G) c.572-32A>G (n.572-32A>G) c.314-32A>G (n.314-32A>G) n.178A>G c.295-32A>G n.845-32A>G n.812-32A>G | gnomAD v4 |
| 19 | g.11106534G>A | CA2582473817 | LDLR | c.953-31G>A (n.953-31G>A) c.695-31G>A (n.695-31G>A) c.949-31G>A c.314-858G>A (n.314-858G>A) c.572-31G>A (n.572-31G>A) c.314-31G>A (n.314-31G>A) n.179G>A c.295-31G>A n.845-31G>A n.812-31G>A | gnomAD v4 |
| 19 | g.11106537A= | CA2322768126 | LDLR | c.953-28A= (n.953-28A=) c.695-28A= (n.695-28A=) c.949-28A= c.314-855A= (n.314-855A=) c.572-28A= (n.572-28A=) c.314-28A= (n.314-28A=) n.182A= c.295-28A= n.845-28A= n.812-28A= | |
| 19 | g.11106537A>G | CA2322768127 | LDLR | c.953-28A>G (n.953-28A>G) c.695-28A>G (n.695-28A>G) c.949-28A>G c.314-855A>G (n.314-855A>G) c.572-28A>G (n.572-28A>G) c.314-28A>G (n.314-28A>G) n.182A>G c.295-28A>G n.845-28A>G n.812-28A>G | dbSNP gnomAD v4 |
| 19 | g.11106537A>T | CA305298336 | LDLR | c.953-28A>T (n.953-28A>T) c.695-28A>T (n.695-28A>T) c.949-28A>T c.314-855A>T (n.314-855A>T) c.572-28A>T (n.572-28A>T) c.314-28A>T (n.314-28A>T) n.182A>T c.295-28A>T n.845-28A>T n.812-28A>T | dbSNP |
| 19 | g.11106538A= | CA2322768128 | LDLR | c.953-27A= (n.953-27A=) c.695-27A= (n.695-27A=) c.949-27A= c.314-854A= (n.314-854A=) c.572-27A= (n.572-27A=) c.314-27A= (n.314-27A=) n.183A= c.295-27A= n.845-27A= n.812-27A= | |
| 19 | g.11106538A>G | CA631763714 | LDLR | c.953-27A>G (n.953-27A>G) c.695-27A>G (n.695-27A>G) c.949-27A>G c.314-854A>G (n.314-854A>G) c.572-27A>G (n.572-27A>G) c.314-27A>G (n.314-27A>G) n.183A>G c.295-27A>G n.845-27A>G n.812-27A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106539_11106544delinsTCAACA | CA2322768129 | LDLR | c.953-26_953-21delinsTCAACA (n.953-26_953-21delinsTCAACA) c.695-26_695-21delinsTCAACA (n.695-26_695-21delinsTCAACA) c.949-26_949-21delinsTCAACA c.314-853_314-848delinsTCAACA (n.314-853_314-848delinsTCAACA) c.572-26_572-21delinsTCAACA (n.572-26_572-21delinsTCAACA) c.314-26_314-21delinsTCAACA (n.314-26_314-21delinsTCAACA) n.184_189delinsTCAACA c.295-26_295-21delinsTCAACA n.845-26_845-21delinsTCAACA n.812-26_812-21delinsTCAACA | |
| 19 | g.11106540C>A | CA2582473818 | LDLR | c.953-25C>A (n.953-25C>A) c.695-25C>A (n.695-25C>A) c.949-25C>A c.314-852C>A (n.314-852C>A) c.572-25C>A (n.572-25C>A) c.314-25C>A (n.314-25C>A) n.185C>A c.295-25C>A n.845-25C>A n.812-25C>A | gnomAD v4 |
| 19 | g.11106540C>G | CA2582473819 | LDLR | c.953-25C>G (n.953-25C>G) c.695-25C>G (n.695-25C>G) c.949-25C>G c.314-852C>G (n.314-852C>G) c.572-25C>G (n.572-25C>G) c.314-25C>G (n.314-25C>G) n.185C>G c.295-25C>G n.845-25C>G n.812-25C>G | gnomAD v4 |
| 19 | g.11106542_11106546del | CA783243743 | LDLR | c.953-23_953-19del (n.953-23_953-19del) c.695-23_695-19del (n.695-23_695-19del) c.949-23_949-19del c.314-850_314-846del (n.314-850_314-846del) c.572-23_572-19del (n.572-23_572-19del) c.314-23_314-19del (n.314-23_314-19del) n.187_191del c.295-23_295-19del n.845-23_845-19del n.812-23_812-19del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106542A= | CA2322768130 | LDLR | c.953-23A= (n.953-23A=) c.695-23A= (n.695-23A=) c.949-23A= c.314-850A= (n.314-850A=) c.572-23A= (n.572-23A=) c.314-23A= (n.314-23A=) n.187A= c.295-23A= n.845-23A= n.812-23A= | |
| 19 | g.11106542A>G | CA2322768131 | LDLR | c.953-23A>G (n.953-23A>G) c.695-23A>G (n.695-23A>G) c.949-23A>G c.314-850A>G (n.314-850A>G) c.572-23A>G (n.572-23A>G) c.314-23A>G (n.314-23A>G) n.187A>G c.295-23A>G n.845-23A>G n.812-23A>G | dbSNP gnomAD v4 |
| 19 | g.11106543C= | CA2322768132 | LDLR | c.953-22C= (n.953-22C=) c.695-22C= (n.695-22C=) c.949-22C= c.314-849C= (n.314-849C=) c.572-22C= (n.572-22C=) c.314-22C= (n.314-22C=) n.188C= c.295-22C= n.845-22C= n.812-22C= | |
| 19 | g.11106543C>T | CA631763715 | LDLR | c.953-22C>T (n.953-22C>T) c.695-22C>T (n.695-22C>T) c.949-22C>T c.314-849C>T (n.314-849C>T) c.572-22C>T (n.572-22C>T) c.314-22C>T (n.314-22C>T) n.188C>T c.295-22C>T n.845-22C>T n.812-22C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11106545C= | CA2322768133 | LDLR | c.953-20C= (n.953-20C=) c.695-20C= (n.695-20C=) c.949-20C= c.314-847C= (n.314-847C=) c.572-20C= (n.572-20C=) c.314-20C= (n.314-20C=) n.190C= c.295-20C= n.845-20C= n.812-20C= | |
| 19 | g.11106545C>T | CA044515 | LDLR | c.953-20C>T (n.953-20C>T) c.695-20C>T (n.695-20C>T) c.949-20C>T c.314-847C>T (n.314-847C>T) c.572-20C>T (n.572-20C>T) c.314-20C>T (n.314-20C>T) n.190C>T c.295-20C>T n.845-20C>T n.812-20C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106546A>G | CA2582473820 | LDLR | c.953-19A>G (n.953-19A>G) c.695-19A>G (n.695-19A>G) c.949-19A>G c.314-846A>G (n.314-846A>G) c.572-19A>G (n.572-19A>G) c.314-19A>G (n.314-19A>G) n.191A>G c.295-19A>G n.845-19A>G n.812-19A>G | gnomAD v4 |
| 19 | g.11106546_11106548delinsACT | CA2322768134 | LDLR | c.953-19_953-17delinsACT (n.953-19_953-17delinsACT) c.695-19_695-17delinsACT (n.695-19_695-17delinsACT) c.949-19_949-17delinsACT c.314-846_314-844delinsACT (n.314-846_314-844delinsACT) c.572-19_572-17delinsACT (n.572-19_572-17delinsACT) c.314-19_314-17delinsACT (n.314-19_314-17delinsACT) n.191_193delinsACT c.295-19_295-17delinsACT n.845-19_845-17delinsACT n.812-19_812-17delinsACT | |
| 19 | g.11106547C>G | CA2576625871 | LDLR | c.953-18C>G (n.953-18C>G) c.695-18C>G (n.695-18C>G) c.949-18C>G c.314-845C>G (n.314-845C>G) c.572-18C>G (n.572-18C>G) c.314-18C>G (n.314-18C>G) n.192C>G c.295-18C>G n.845-18C>G n.812-18C>G | ClinVar gnomAD v4 |
| 19 | g.11106549_11106550del | CA993533301 | LDLR | c.953-16_953-15del (n.953-16_953-15del) c.695-16_695-15del (n.695-16_695-15del) c.949-16_949-15del c.314-843_314-842del (n.314-843_314-842del) c.572-16_572-15del (n.572-16_572-15del) c.314-16_314-15del (n.314-16_314-15del) n.194_195del c.295-16_295-15del n.845-16_845-15del n.812-16_812-15del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106548T>C | CA2740091874 | LDLR | c.953-17T>C (n.953-17T>C) c.695-17T>C (n.695-17T>C) c.949-17T>C c.314-844T>C (n.314-844T>C) c.572-17T>C (n.572-17T>C) c.314-17T>C (n.314-17T>C) n.193T>C c.295-17T>C n.845-17T>C n.812-17T>C | ClinVar |
| 19 | g.11106550T>C | CA2582473821 | LDLR | c.953-15T>C (n.953-15T>C) c.695-15T>C (n.695-15T>C) c.949-15T>C c.314-842T>C (n.314-842T>C) c.572-15T>C (n.572-15T>C) c.314-15T>C (n.314-15T>C) n.195T>C c.295-15T>C n.845-15T>C n.812-15T>C | gnomAD v4 |
| 19 | g.11106550T>G | CA2739276482 | LDLR | c.953-15T>G (n.953-15T>G) c.695-15T>G (n.695-15T>G) c.949-15T>G c.314-842T>G (n.314-842T>G) c.572-15T>G (n.572-15T>G) c.314-15T>G (n.314-15T>G) n.195T>G c.295-15T>G n.845-15T>G n.812-15T>G | ClinVar |
| 19 | g.11106552T>C | CA10585094 | LDLR | c.953-13T>C (n.953-13T>C) c.695-13T>C (n.695-13T>C) c.949-13T>C c.314-840T>C (n.314-840T>C) c.572-13T>C (n.572-13T>C) c.314-13T>C (n.314-13T>C) n.197T>C c.295-13T>C n.845-13T>C n.812-13T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106552T= | CA2322768135 | LDLR | c.953-13T= (n.953-13T=) c.695-13T= (n.695-13T=) c.949-13T= c.314-840T= (n.314-840T=) c.572-13T= (n.572-13T=) c.314-13T= (n.314-13T=) n.197T= c.295-13T= n.845-13T= n.812-13T= | |
| 19 | g.11106555T>C | CA044507 | LDLR | c.953-10T>C (n.953-10T>C) c.695-10T>C (n.695-10T>C) c.949-10T>C c.314-837T>C (n.314-837T>C) c.572-10T>C (n.572-10T>C) c.314-10T>C (n.314-10T>C) n.200T>C c.295-10T>C n.845-10T>C n.812-10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106555T>G | CA2582473822 | LDLR | c.953-10T>G (n.953-10T>G) c.695-10T>G (n.695-10T>G) c.949-10T>G c.314-837T>G (n.314-837T>G) c.572-10T>G (n.572-10T>G) c.314-10T>G (n.314-10T>G) n.200T>G c.295-10T>G n.845-10T>G n.812-10T>G | ClinVar gnomAD v4 |
| 19 | g.11106555T= | CA2322768136 | LDLR | c.953-10T= (n.953-10T=) c.695-10T= (n.695-10T=) c.949-10T= c.314-837T= (n.314-837T=) c.572-10T= (n.572-10T=) c.314-10T= (n.314-10T=) n.200T= c.295-10T= n.845-10T= n.812-10T= | |
| 19 | g.11106556G>A | CA631763719 | LDLR | c.953-9G>A (n.953-9G>A) c.695-9G>A (n.695-9G>A) c.949-9G>A c.314-836G>A (n.314-836G>A) c.572-9G>A (n.572-9G>A) c.314-9G>A (n.314-9G>A) n.201G>A c.295-9G>A n.845-9G>A n.812-9G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11106556G= | CA2322768137 | LDLR | c.953-9G= (n.953-9G=) c.695-9G= (n.695-9G=) c.949-9G= c.314-836G= (n.314-836G=) c.572-9G= (n.572-9G=) c.314-9G= (n.314-9G=) n.201G= c.295-9G= n.845-9G= n.812-9G= | |
| 19 | g.11106557_11106567delinsTTTTCCAGCTG | CA2322768138 | LDLR | c.953-8_955delinsTTTTCCAGCTG c.695-8_697delinsTTTTCCAGCTG c.949-8_951delinsTTTTCCAGCTG c.314-835_314-825delinsTTTTCCAGCTG (n.314-835_314-825delinsTTTTCCAGCTG) c.572-8_574delinsTTTTCCAGCTG c.314-8_316delinsTTTTCCAGCTG n.202_212delinsTTTTCCAGCTG c.295-8_297delinsTTTTCCAGCTG n.845-8_847delinsTTTTCCAGCTG n.812-8_814delinsTTTTCCAGCTG | |
| 19 | g.11106559_11106568del | CA10585095 | LDLR | c.953-6_956del c.695-6_698del c.949-6_952del c.314-833_314-824del (n.314-833_314-824del) c.572-6_575del c.314-6_317del n.204_213del c.295-6_298del n.845-6_848del n.812-6_815del | ClinVar dbSNP |
| 19 | g.11106559T>A | CA2582473823 | LDLR | c.953-6T>A (n.953-6T>A) c.695-6T>A (n.695-6T>A) c.949-6T>A c.314-833T>A (n.314-833T>A) c.572-6T>A (n.572-6T>A) c.314-6T>A (n.314-6T>A) n.204T>A c.295-6T>A n.845-6T>A n.812-6T>A | gnomAD v4 |
| 19 | g.11106559T>C | CA2582473824 | LDLR | c.953-6T>C (n.953-6T>C) c.695-6T>C (n.695-6T>C) c.949-6T>C c.314-833T>C (n.314-833T>C) c.572-6T>C (n.572-6T>C) c.314-6T>C (n.314-6T>C) n.204T>C c.295-6T>C n.845-6T>C n.812-6T>C | gnomAD v4 |
| 19 | g.11106560T>A | CA2697556238 | LDLR | c.953-5T>A (n.953-5T>A) c.695-5T>A (n.695-5T>A) c.949-5T>A c.314-832T>A (n.314-832T>A) c.572-5T>A (n.572-5T>A) c.314-5T>A (n.314-5T>A) n.205T>A c.295-5T>A n.845-5T>A n.812-5T>A | ClinVar |
| 19 | g.11106562C= | CA2322768139 | LDLR | c.953-3C= (n.953-3C=) c.695-3C= (n.695-3C=) c.949-3C= c.314-830C= (n.314-830C=) c.572-3C= (n.572-3C=) c.314-3C= (n.314-3C=) n.207C= c.295-3C= n.845-3C= n.812-3C= | |
| 19 | g.11106562C>T | CA044536 | LDLR | c.953-3C>T (n.953-3C>T) c.695-3C>T (n.695-3C>T) c.949-3C>T c.314-830C>T (n.314-830C>T) c.572-3C>T (n.572-3C>T) c.314-3C>T (n.314-3C>T) n.207C>T c.295-3C>T n.845-3C>T n.812-3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106563A>C | CA404079354 | LDLR | c.953-2A>C (n.953-2A>C) c.695-2A>C (n.695-2A>C) c.949-2A>C c.314-829A>C (n.314-829A>C) c.572-2A>C (n.572-2A>C) c.314-2A>C (n.314-2A>C) n.208A>C c.295-2A>C n.845-2A>C n.812-2A>C | |
| 19 | g.11106563A>G | CA404079357 | LDLR | c.953-2A>G (n.953-2A>G) c.695-2A>G (n.695-2A>G) c.949-2A>G c.314-829A>G (n.314-829A>G) c.572-2A>G (n.572-2A>G) c.314-2A>G (n.314-2A>G) n.208A>G c.295-2A>G n.845-2A>G n.812-2A>G | |
| 19 | g.11106563A>T | CA404079360 | LDLR | c.953-2A>T (n.953-2A>T) c.695-2A>T (n.695-2A>T) c.949-2A>T c.314-829A>T (n.314-829A>T) c.572-2A>T (n.572-2A>T) c.314-2A>T (n.314-2A>T) n.208A>T c.295-2A>T n.845-2A>T n.812-2A>T | |
| 19 | g.11106564G>A | CA10654846 | LDLR | c.953-1G>A (n.953-1G>A) c.695-1G>A (n.695-1G>A) c.949-1G>A c.314-828G>A (n.314-828G>A) c.572-1G>A (n.572-1G>A) c.314-1G>A (n.314-1G>A) n.209G>A c.295-1G>A n.845-1G>A n.812-1G>A | ClinVar dbSNP |
| 19 | g.11106564G>C | CA404079366 | LDLR | c.953-1G>C (n.953-1G>C) c.695-1G>C (n.695-1G>C) c.949-1G>C c.314-828G>C (n.314-828G>C) c.572-1G>C (n.572-1G>C) c.314-1G>C (n.314-1G>C) n.209G>C c.295-1G>C n.845-1G>C n.812-1G>C | ClinVar |
| 19 | g.11106564G= | CA2322768140 | LDLR | c.953-1G= (n.953-1G=) c.695-1G= (n.695-1G=) c.949-1G= c.314-828G= (n.314-828G=) c.572-1G= (n.572-1G=) c.314-1G= (n.314-1G=) n.209G= c.295-1G= n.845-1G= n.812-1G= | |
| 19 | g.11106564G>T | CA10585096 | LDLR | c.953-1G>T (n.953-1G>T) c.695-1G>T (n.695-1G>T) c.949-1G>T c.314-828G>T (n.314-828G>T) c.572-1G>T (n.572-1G>T) c.314-1G>T (n.314-1G>T) n.209G>T c.295-1G>T n.845-1G>T n.812-1G>T | ClinVar dbSNP |
| 19 | g.11106564_11106574delinsGCTGTGGCCAC | CA2322768141 | LDLR | c.953-1_962delinsGCTGTGGCCAC c.695-1_704delinsGCTGTGGCCAC c.949-1_958delinsGCTGTGGCCAC c.314-828_314-818delinsGCTGTGGCCAC (n.314-828_314-818delinsGCTGTGGCCAC) c.572-1_581delinsGCTGTGGCCAC c.314-1_323delinsGCTGTGGCCAC n.209_219delinsGCTGTGGCCAC c.295-1_304delinsGCTGTGGCCAC n.845-1_854delinsGCTGTGGCCAC n.812-1_821delinsGCTGTGGCCAC | |
| 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.11106565C>A | CA404079369 | LDLR | c.953C>A (p.Ala318Asp) c.695C>A (p.Ala232Asp) c.949C>A c.314-827C>A (n.314-827C>A) c.572C>A (p.Ala191Asp) c.314C>A (p.Pro105His) n.210C>A c.295C>A n.845C>A n.812C>A | |
| 19 | g.11106565C>G | CA404079371 | LDLR | c.953C>G (p.Ala318Gly) c.695C>G (p.Ala232Gly) c.949C>G c.314-827C>G (n.314-827C>G) c.572C>G (p.Ala191Gly) c.314C>G (p.Pro105Arg) n.210C>G c.295C>G n.845C>G n.812C>G | |
| 19 | g.11106565C>T | CA404079375 | LDLR | c.953C>T (p.Ala318Val) c.695C>T (p.Ala232Val) c.949C>T c.314-827C>T (n.314-827C>T) c.572C>T (p.Ala191Val) c.314C>T (p.Pro105Leu) n.210C>T c.295C>T n.845C>T n.812C>T | |
| 19 | g.11106569_11106578del | CA916080181 | LDLR | c.957_966del (p.Thr321LeufsTer27) c.699_708del (p.Thr235LeufsTer27) c.953_962del c.314-823_314-814del (n.314-823_314-814del) c.576_585del (p.Thr194LeufsTer27) c.318_327del (p.Thr108LeufsTer27) n.214_223del c.299_308del n.849_858del n.816_825del | ClinVar dbSNP |
| 19 | g.11106566T>A | CA505484873 | LDLR | c.954T>A (p.Ala318=) c.696T>A (p.Ala232=) c.950T>A c.314-826T>A (n.314-826T>A) c.573T>A (p.Ala191=) c.315T>A (p.Pro105=) n.211T>A c.296T>A n.846T>A n.813T>A | |
| 19 | g.11106566T>C | CA505484874 | LDLR | c.954T>C (p.Ala318=) c.696T>C (p.Ala232=) c.950T>C c.314-826T>C (n.314-826T>C) c.573T>C (p.Ala191=) c.315T>C (p.Pro105=) n.211T>C c.296T>C n.846T>C n.813T>C | |
| 19 | g.11106566T>G | CA505484875 | LDLR | c.954T>G (p.Ala318=) c.696T>G (p.Ala232=) c.950T>G c.314-826T>G (n.314-826T>G) c.573T>G (p.Ala191=) c.315T>G (p.Pro105=) n.211T>G c.296T>G n.846T>G n.813T>G | |
| 19 | g.11106567G>A | CA404079377 | LDLR | c.955G>A (p.Val319Met) c.697G>A (p.Val233Met) c.951G>A c.314-825G>A (n.314-825G>A) c.574G>A (p.Val192Met) c.316G>A (p.Val106Met) n.212G>A c.297G>A n.847G>A n.814G>A | |
| 19 | g.11106567G>C | CA404079380 | LDLR | c.955G>C (p.Val319Leu) c.697G>C (p.Val233Leu) c.951G>C c.314-825G>C (n.314-825G>C) c.574G>C (p.Val192Leu) c.316G>C (p.Val106Leu) n.212G>C c.297G>C n.847G>C n.814G>C | |
| 19 | g.11106567G= | CA2322768142 | LDLR | c.955G= (p.Val319=) c.697G= (p.Val233=) c.951G= c.314-825G= (n.314-825G=) c.574G= (p.Val192=) c.316G= (p.Val106=) n.212G= c.297G= n.847G= n.814G= | |
| 19 | g.11106567G>T | CA305298343 | LDLR | c.955G>T (p.Val319Leu) c.697G>T (p.Val233Leu) c.951G>T c.314-825G>T (n.314-825G>T) c.574G>T (p.Val192Leu) c.316G>T (p.Val106Leu) n.212G>T c.297G>T n.847G>T n.814G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106568T>A | CA404079386 | LDLR | c.956T>A (p.Val319Glu) c.698T>A (p.Val233Glu) c.952T>A c.314-824T>A (n.314-824T>A) c.575T>A (p.Val192Glu) c.317T>A (p.Val106Glu) n.213T>A c.298T>A n.848T>A n.815T>A | |
| 19 | g.11106568T>C | CA404079388 | LDLR | c.956T>C (p.Val319Ala) c.698T>C (p.Val233Ala) c.952T>C c.314-824T>C (n.314-824T>C) c.575T>C (p.Val192Ala) c.317T>C (p.Val106Ala) n.213T>C c.298T>C n.848T>C n.815T>C | |
| 19 | g.11106568T>G | CA404079390 | LDLR | c.956T>G (p.Val319Gly) c.698T>G (p.Val233Gly) c.952T>G c.314-824T>G (n.314-824T>G) c.575T>G (p.Val192Gly) c.317T>G (p.Val106Gly) n.213T>G c.298T>G n.848T>G n.815T>G | |
| 19 | g.11106569G>A | CA505484878 | LDLR | c.957G>A (p.Val319=) c.699G>A (p.Val233=) c.953G>A c.314-823G>A (n.314-823G>A) c.576G>A (p.Val192=) c.318G>A (p.Val106=) n.214G>A c.299G>A n.849G>A n.816G>A | |
| 19 | g.11106569G>C | CA505484877 | LDLR | c.957G>C (p.Val319=) c.699G>C (p.Val233=) c.953G>C c.314-823G>C (n.314-823G>C) c.576G>C (p.Val192=) c.318G>C (p.Val106=) n.214G>C c.299G>C n.849G>C n.816G>C | |
| 19 | g.11106569G>T | CA505484876 | LDLR | c.957G>T (p.Val319=) c.699G>T (p.Val233=) c.953G>T c.314-823G>T (n.314-823G>T) c.576G>T (p.Val192=) c.318G>T (p.Val106=) n.214G>T c.299G>T n.849G>T n.816G>T | |
| 19 | g.11106570G>A | CA404079395 | LDLR | c.958G>A (p.Ala320Thr) c.700G>A (p.Ala234Thr) c.954G>A c.314-822G>A (n.314-822G>A) c.577G>A (p.Ala193Thr) c.319G>A (p.Ala107Thr) n.215G>A c.300G>A n.850G>A n.817G>A | gnomAD v4 |
| 19 | g.11106570G>C | CA404079396 | LDLR | c.958G>C (p.Ala320Pro) c.700G>C (p.Ala234Pro) c.954G>C c.314-822G>C (n.314-822G>C) c.577G>C (p.Ala193Pro) c.319G>C (p.Ala107Pro) n.215G>C c.300G>C n.850G>C n.817G>C | |
| 19 | g.11106570G>T | CA404079399 | LDLR | c.958G>T (p.Ala320Ser) c.700G>T (p.Ala234Ser) c.954G>T c.314-822G>T (n.314-822G>T) c.577G>T (p.Ala193Ser) c.319G>T (p.Ala107Ser) n.215G>T c.300G>T n.850G>T n.817G>T | |
| 19 | g.11106570_11106571delinsGC | CA2322768143 | LDLR | c.958_959delinsGC (p.Ala320=) c.700_701delinsGC (p.Ala234=) c.954_955delinsGC c.314-822_314-821delinsGC (n.314-822_314-821delinsGC) c.577_578delinsGC (p.Ala193=) c.319_320delinsGC (p.Ala107=) n.215_216delinsGC c.300_301delinsGC n.850_851delinsGC n.817_818delinsGC | |
| 19 | g.11106571C>A | CA404079407 | LDLR | c.959C>A (p.Ala320Asp) c.701C>A (p.Ala234Asp) c.955C>A c.314-821C>A (n.314-821C>A) c.578C>A (p.Ala193Asp) c.320C>A (p.Ala107Asp) n.216C>A c.301C>A n.851C>A n.818C>A | |
| 19 | g.11106571C>G | CA404079404 | LDLR | c.959C>G (p.Ala320Gly) c.701C>G (p.Ala234Gly) c.955C>G c.314-821C>G (n.314-821C>G) c.578C>G (p.Ala193Gly) c.320C>G (p.Ala107Gly) n.216C>G c.301C>G n.851C>G n.818C>G | |
| 19 | g.11106571C>T | CA404079403 | LDLR | c.959C>T (p.Ala320Val) c.701C>T (p.Ala234Val) c.955C>T c.314-821C>T (n.314-821C>T) c.578C>T (p.Ala193Val) c.320C>T (p.Ala107Val) n.216C>T c.301C>T n.851C>T n.818C>T | gnomAD v4 |
| 19 | g.11106572del | CA645509267 | LDLR | c.960del (p.Thr321ProfsTer?) c.702del (p.Thr235ProfsTer?) c.956del c.314-820del (n.314-820del) c.579del (p.Thr194ProfsTer?) c.321del (p.Thr108ProfsTer?) n.217del c.302del n.852del n.819del | ClinVar dbSNP |
| 19 | g.11106572C>A | CA505484879 | LDLR | c.960C>A (p.Ala320=) c.702C>A (p.Ala234=) c.956C>A c.314-820C>A (n.314-820C>A) c.579C>A (p.Ala193=) c.321C>A (p.Ala107=) n.217C>A c.302C>A n.852C>A n.819C>A | |
| 19 | g.11106572C= | CA2322768144 | LDLR | c.960C= (p.Ala320=) c.702C= (p.Ala234=) c.956C= c.314-820C= (n.314-820C=) c.579C= (p.Ala193=) c.321C= (p.Ala107=) n.217C= c.302C= n.852C= n.819C= | |
| 19 | g.11106572C>G | CA505484880 | LDLR | c.960C>G (p.Ala320=) c.702C>G (p.Ala234=) c.956C>G c.314-820C>G (n.314-820C>G) c.579C>G (p.Ala193=) c.321C>G (p.Ala107=) n.217C>G c.302C>G n.852C>G n.819C>G | |
| 19 | g.11106572C>T | CA505484881 | LDLR | c.960C>T (p.Ala320=) c.702C>T (p.Ala234=) c.956C>T c.314-820C>T (n.314-820C>T) c.579C>T (p.Ala193=) c.321C>T (p.Ala107=) n.217C>T c.302C>T n.852C>T n.819C>T | |
| 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.11106573A= | CA2322768145 | LDLR | c.961A= (p.Thr321=) c.703A= (p.Thr235=) c.957A= c.314-819A= (n.314-819A=) c.580A= (p.Thr194=) c.322A= (p.Thr108=) n.218A= c.303A= n.853A= n.820A= | |
| 19 | g.11106573A>C | CA404079412 | LDLR | c.961A>C (p.Thr321Pro) c.703A>C (p.Thr235Pro) c.957A>C c.314-819A>C (n.314-819A>C) c.580A>C (p.Thr194Pro) c.322A>C (p.Thr108Pro) n.218A>C c.303A>C n.853A>C n.820A>C | |
| 19 | g.11106573A>G | CA404079409 | LDLR | c.961A>G (p.Thr321Ala) c.703A>G (p.Thr235Ala) c.957A>G c.314-819A>G (n.314-819A>G) c.580A>G (p.Thr194Ala) c.322A>G (p.Thr108Ala) n.218A>G c.303A>G n.853A>G n.820A>G | |
| 19 | g.11106573A>T | CA404079414 | LDLR | c.961A>T (p.Thr321Ser) c.703A>T (p.Thr235Ser) c.957A>T c.314-819A>T (n.314-819A>T) c.580A>T (p.Thr194Ser) c.322A>T (p.Thr108Ser) n.218A>T c.303A>T n.853A>T n.820A>T | |
| 19 | g.11106573dup | CA10585097 | LDLR | c.961dup (p.Thr321AsnfsTer5) c.703dup (p.Thr235AsnfsTer5) c.957dup c.314-819dup (n.314-819dup) c.580dup (p.Thr194AsnfsTer5) c.322dup (p.Thr108AsnfsTer5) n.218dup c.303dup n.853dup n.820dup | ClinVar dbSNP |
| 19 | g.11106574C>A | CA404079418 | LDLR | c.962C>A (p.Thr321Asn) c.704C>A (p.Thr235Asn) c.958C>A c.314-818C>A (n.314-818C>A) c.581C>A (p.Thr194Asn) c.323C>A (p.Thr108Asn) n.219C>A c.304C>A n.854C>A n.821C>A | |
| 19 | g.11106574C>G | CA404079424 | LDLR | c.962C>G (p.Thr321Ser) c.704C>G (p.Thr235Ser) c.958C>G c.314-818C>G (n.314-818C>G) c.581C>G (p.Thr194Ser) c.323C>G (p.Thr108Ser) n.219C>G c.304C>G n.854C>G n.821C>G | |
| 19 | g.11106574C>T | CA404079421 | LDLR | c.962C>T (p.Thr321Ile) c.704C>T (p.Thr235Ile) c.958C>T c.314-818C>T (n.314-818C>T) c.581C>T (p.Thr194Ile) c.323C>T (p.Thr108Ile) n.219C>T c.304C>T n.854C>T n.821C>T | |
| 19 | g.11106575dup | CA10585099 | LDLR | c.963dup (p.Cys322LeufsTer4) c.705dup (p.Cys236LeufsTer4) c.959dup c.314-817dup (n.314-817dup) c.582dup (p.Cys195LeufsTer4) c.324dup (p.Cys109LeufsTer4) n.220dup c.305dup n.855dup n.822dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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.11106575C>A | CA505484882 | LDLR | c.963C>A (p.Thr321=) c.705C>A (p.Thr235=) c.959C>A c.314-817C>A (n.314-817C>A) c.582C>A (p.Thr194=) c.324C>A (p.Thr108=) n.220C>A c.305C>A n.855C>A n.822C>A | |
| 19 | g.11106575C>G | CA505484883 | LDLR | c.963C>G (p.Thr321=) c.705C>G (p.Thr235=) c.959C>G c.314-817C>G (n.314-817C>G) c.582C>G (p.Thr194=) c.324C>G (p.Thr108=) n.220C>G c.305C>G n.855C>G n.822C>G | |
| 19 | g.11106575C>T | CA505484884 | LDLR | c.963C>T (p.Thr321=) c.705C>T (p.Thr235=) c.959C>T c.314-817C>T (n.314-817C>T) c.582C>T (p.Thr194=) c.324C>T (p.Thr108=) n.220C>T c.305C>T n.855C>T n.822C>T | |
| 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.11106576T>A | CA404079433 | LDLR | c.964T>A (p.Cys322Ser) c.706T>A (p.Cys236Ser) c.960T>A c.314-816T>A (n.314-816T>A) c.583T>A (p.Cys195Ser) c.325T>A (p.Cys109Ser) n.221T>A c.306T>A n.856T>A n.823T>A | ClinVar dbSNP |
| 19 | g.11106576T>C | CA10585100 | LDLR | c.964T>C (p.Cys322Arg) c.706T>C (p.Cys236Arg) c.960T>C c.314-816T>C (n.314-816T>C) c.583T>C (p.Cys195Arg) c.325T>C (p.Cys109Arg) n.221T>C c.306T>C n.856T>C n.823T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106576T>G | CA16602313 | LDLR | c.964T>G (p.Cys322Gly) c.706T>G (p.Cys236Gly) c.960T>G c.314-816T>G (n.314-816T>G) c.583T>G (p.Cys195Gly) c.325T>G (p.Cys109Gly) n.221T>G c.306T>G n.856T>G n.823T>G | ClinVar dbSNP |
| 19 | g.11106576T= | CA2322768147 | LDLR | c.964T= (p.Cys322=) c.706T= (p.Cys236=) c.960T= c.314-816T= (n.314-816T=) c.583T= (p.Cys195=) c.325T= (p.Cys109=) n.221T= c.306T= n.856T= n.823T= | |
| 19 | g.11106577G>A | CA404079436 | LDLR | c.965G>A (p.Cys322Tyr) c.707G>A (p.Cys236Tyr) c.961G>A c.314-815G>A (n.314-815G>A) c.584G>A (p.Cys195Tyr) c.326G>A (p.Cys109Tyr) n.222G>A c.307G>A n.857G>A n.824G>A | |
| 19 | g.11106577G>C | CA404079439 | LDLR | c.965G>C (p.Cys322Ser) c.707G>C (p.Cys236Ser) c.961G>C c.314-815G>C (n.314-815G>C) c.584G>C (p.Cys195Ser) c.326G>C (p.Cys109Ser) n.222G>C c.307G>C n.857G>C n.824G>C | |
| 19 | g.11106577G= | CA2322768148 | LDLR | c.965G= (p.Cys322=) c.707G= (p.Cys236=) c.961G= c.314-815G= (n.314-815G=) c.584G= (p.Cys195=) c.326G= (p.Cys109=) n.222G= c.307G= n.857G= n.824G= | |
| 19 | g.11106577G>T | CA404079442 | LDLR | c.965G>T (p.Cys322Phe) c.707G>T (p.Cys236Phe) c.961G>T c.314-815G>T (n.314-815G>T) c.584G>T (p.Cys195Phe) c.326G>T (p.Cys109Phe) n.222G>T c.307G>T n.857G>T n.824G>T | |
| 19 | g.11106578T>A | CA404079445 | LDLR | c.966T>A (p.Cys322Ter) c.708T>A (p.Cys236Ter) c.962T>A c.314-814T>A (n.314-814T>A) c.585T>A (p.Cys195Ter) c.327T>A (p.Cys109Ter) n.223T>A c.308T>A n.858T>A n.825T>A | |
| 19 | g.11106578T>C | CA505484885 | LDLR | c.966T>C (p.Cys322=) c.708T>C (p.Cys236=) c.962T>C c.314-814T>C (n.314-814T>C) c.585T>C (p.Cys195=) c.327T>C (p.Cys109=) n.223T>C c.308T>C n.858T>C n.825T>C | |
| 19 | g.11106578T>G | CA404079447 | LDLR | c.966T>G (p.Cys322Trp) c.708T>G (p.Cys236Trp) c.962T>G c.314-814T>G (n.314-814T>G) c.585T>G (p.Cys195Trp) c.327T>G (p.Cys109Trp) n.223T>G c.308T>G n.858T>G n.825T>G | |
| 19 | g.11106578dup | CA10585101 | LDLR | c.966dup (p.Arg323SerfsTer3) c.708dup (p.Arg237SerfsTer3) c.962dup c.314-814dup (n.314-814dup) c.585dup (p.Arg196SerfsTer3) c.327dup (p.Arg110SerfsTer3) n.223dup c.308dup n.858dup n.825dup | ClinVar dbSNP |
| 19 | g.11106579C>A | CA404079450 | LDLR | c.967C>A (p.Arg323Ser) c.709C>A (p.Arg237Ser) c.963C>A c.314-813C>A (n.314-813C>A) c.586C>A (p.Arg196Ser) c.328C>A (p.Arg110Ser) n.224C>A c.309C>A n.859C>A n.826C>A | |
| 19 | g.11106579C= | CA2322768149 | LDLR | c.967C= (p.Arg323=) c.709C= (p.Arg237=) c.963C= c.314-813C= (n.314-813C=) c.586C= (p.Arg196=) c.328C= (p.Arg110=) n.224C= c.309C= n.859C= n.826C= | |
| 19 | g.11106579C>G | CA404079452 | LDLR | c.967C>G (p.Arg323Gly) c.709C>G (p.Arg237Gly) c.963C>G c.314-813C>G (n.314-813C>G) c.586C>G (p.Arg196Gly) c.328C>G (p.Arg110Gly) n.224C>G c.309C>G n.859C>G n.826C>G | |
| 19 | g.11106579C>T | CA10585102 | LDLR | c.967C>T (p.Arg323Cys) c.709C>T (p.Arg237Cys) c.963C>T c.314-813C>T (n.314-813C>T) c.586C>T (p.Arg196Cys) c.328C>T (p.Arg110Cys) n.224C>T c.309C>T n.859C>T n.826C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11106580G>A | CA044568 | LDLR | c.968G>A (p.Arg323His) c.710G>A (p.Arg237His) c.964G>A c.314-812G>A (n.314-812G>A) c.587G>A (p.Arg196His) c.329G>A (p.Arg110His) n.225G>A c.310G>A n.860G>A n.827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106580G>C | CA404079459 | LDLR | c.968G>C (p.Arg323Pro) c.710G>C (p.Arg237Pro) c.964G>C c.314-812G>C (n.314-812G>C) c.587G>C (p.Arg196Pro) c.329G>C (p.Arg110Pro) n.225G>C c.310G>C n.860G>C n.827G>C | gnomAD v4 |
| 19 | g.11106580G= | CA2322768150 | LDLR | c.968G= (p.Arg323=) c.710G= (p.Arg237=) c.964G= c.314-812G= (n.314-812G=) c.587G= (p.Arg196=) c.329G= (p.Arg110=) n.225G= c.310G= n.860G= n.827G= | |
| 19 | g.11106580G>T | CA404079462 | LDLR | c.968G>T (p.Arg323Leu) c.710G>T (p.Arg237Leu) c.964G>T c.314-812G>T (n.314-812G>T) c.587G>T (p.Arg196Leu) c.329G>T (p.Arg110Leu) n.225G>T c.310G>T n.860G>T n.827G>T | |
| 19 | g.11106581C>A | CA505484886 | LDLR | c.969C>A (p.Arg323=) c.711C>A (p.Arg237=) c.965C>A c.314-811C>A (n.314-811C>A) c.588C>A (p.Arg196=) c.330C>A (p.Arg110=) n.226C>A c.311C>A n.861C>A n.828C>A | ClinVar |
| 19 | g.11106581C= | CA2322768151 | LDLR | c.969C= (p.Arg323=) c.711C= (p.Arg237=) c.965C= c.314-811C= (n.314-811C=) c.588C= (p.Arg196=) c.330C= (p.Arg110=) n.226C= c.311C= n.861C= n.828C= | |
| 19 | g.11106581C>G | CA505484887 | LDLR | c.969C>G (p.Arg323=) c.711C>G (p.Arg237=) c.965C>G c.314-811C>G (n.314-811C>G) c.588C>G (p.Arg196=) c.330C>G (p.Arg110=) n.226C>G c.311C>G n.861C>G n.828C>G | |
| 19 | g.11106581C>T | CA044586 | LDLR | c.969C>T (p.Arg323=) c.711C>T (p.Arg237=) c.965C>T c.314-811C>T (n.314-811C>T) c.588C>T (p.Arg196=) c.330C>T (p.Arg110=) n.226C>T c.311C>T n.861C>T n.828C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106583del | CA2497030130 | LDLR | c.971del (p.Pro324LeufsTer27) c.713del (p.Pro238LeufsTer27) c.967del c.314-809del (n.314-809del) c.590del (p.Pro197LeufsTer27) c.332del (p.Pro111LeufsTer27) n.228del c.313del n.863del n.830del | |
| 19 | g.11106582C>A | CA404079469 | LDLR | c.970C>A (p.Pro324Thr) c.712C>A (p.Pro238Thr) c.966C>A c.314-810C>A (n.314-810C>A) c.589C>A (p.Pro197Thr) c.331C>A (p.Pro111Thr) n.227C>A c.312C>A n.862C>A n.829C>A | gnomAD v4 |
| 19 | g.11106582C= | CA2322768152 | LDLR | c.970C= (p.Pro324=) c.712C= (p.Pro238=) c.966C= c.314-810C= (n.314-810C=) c.589C= (p.Pro197=) c.331C= (p.Pro111=) n.227C= c.312C= n.862C= n.829C= | |
| 19 | g.11106582C>G | CA404079472 | LDLR | c.970C>G (p.Pro324Ala) c.712C>G (p.Pro238Ala) c.966C>G c.314-810C>G (n.314-810C>G) c.589C>G (p.Pro197Ala) c.331C>G (p.Pro111Ala) n.227C>G c.312C>G n.862C>G n.829C>G | ClinVar dbSNP |
| 19 | g.11106582C>T | CA044601 | LDLR | c.970C>T (p.Pro324Ser) c.712C>T (p.Pro238Ser) c.966C>T c.314-810C>T (n.314-810C>T) c.589C>T (p.Pro197Ser) c.331C>T (p.Pro111Ser) n.227C>T c.312C>T n.862C>T n.829C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106583C>A | CA404079478 | LDLR | c.971C>A (p.Pro324His) c.713C>A (p.Pro238His) c.967C>A c.314-809C>A (n.314-809C>A) c.590C>A (p.Pro197His) c.332C>A (p.Pro111His) n.228C>A c.313C>A n.863C>A n.830C>A | |
| 19 | g.11106583C>G | CA404079481 | LDLR | c.971C>G (p.Pro324Arg) c.713C>G (p.Pro238Arg) c.967C>G c.314-809C>G (n.314-809C>G) c.590C>G (p.Pro197Arg) c.332C>G (p.Pro111Arg) n.228C>G c.313C>G n.863C>G n.830C>G | |
| 19 | g.11106583C>T | CA404079484 | LDLR | c.971C>T (p.Pro324Leu) c.713C>T (p.Pro238Leu) c.967C>T c.314-809C>T (n.314-809C>T) c.590C>T (p.Pro197Leu) c.332C>T (p.Pro111Leu) n.228C>T c.313C>T n.863C>T n.830C>T | gnomAD v4 |
| 19 | g.11106584T>A | CA505484890 | LDLR | c.972T>A (p.Pro324=) c.714T>A (p.Pro238=) c.968T>A c.314-808T>A (n.314-808T>A) c.591T>A (p.Pro197=) c.333T>A (p.Pro111=) n.229T>A c.314T>A n.864T>A n.831T>A | |
| 19 | g.11106584T>C | CA505484889 | LDLR | c.972T>C (p.Pro324=) c.714T>C (p.Pro238=) c.968T>C c.314-808T>C (n.314-808T>C) c.591T>C (p.Pro197=) c.333T>C (p.Pro111=) n.229T>C c.314T>C n.864T>C n.831T>C | |
| 19 | g.11106584T>G | CA505484888 | LDLR | c.972T>G (p.Pro324=) c.714T>G (p.Pro238=) c.968T>G c.314-808T>G (n.314-808T>G) c.591T>G (p.Pro197=) c.333T>G (p.Pro111=) n.229T>G c.314T>G n.864T>G n.831T>G | |
| 19 | g.11106585G>A | CA404079487 | LDLR | c.973G>A (p.Asp325Asn) c.715G>A (p.Asp239Asn) c.969G>A c.314-807G>A (n.314-807G>A) c.592G>A (p.Asp198Asn) c.334G>A (p.Asp112Asn) n.230G>A c.315G>A n.865G>A n.832G>A | ClinVar |
| 19 | g.11106585G>C | CA404079493 | LDLR | c.973G>C (p.Asp325His) c.715G>C (p.Asp239His) c.969G>C c.314-807G>C (n.314-807G>C) c.592G>C (p.Asp198His) c.334G>C (p.Asp112His) n.230G>C c.315G>C n.865G>C n.832G>C | |
| 19 | g.11106585G>T | CA404079496 | LDLR | c.973G>T (p.Asp325Tyr) c.715G>T (p.Asp239Tyr) c.969G>T c.314-807G>T (n.314-807G>T) c.592G>T (p.Asp198Tyr) c.334G>T (p.Asp112Tyr) n.230G>T c.315G>T n.865G>T n.832G>T | |
| 19 | g.11106586A>C | CA404079498 | LDLR | c.974A>C (p.Asp325Ala) c.716A>C (p.Asp239Ala) c.970A>C c.314-806A>C (n.314-806A>C) c.593A>C (p.Asp198Ala) c.335A>C (p.Asp112Ala) n.231A>C c.316A>C n.866A>C n.833A>C | |
| 19 | g.11106586A>G | CA404079501 | LDLR | c.974A>G (p.Asp325Gly) c.716A>G (p.Asp239Gly) c.970A>G c.314-806A>G (n.314-806A>G) c.593A>G (p.Asp198Gly) c.335A>G (p.Asp112Gly) n.231A>G c.316A>G n.866A>G n.833A>G | |
| 19 | g.11106586A>T | CA404079504 | LDLR | c.974A>T (p.Asp325Val) c.716A>T (p.Asp239Val) c.970A>T c.314-806A>T (n.314-806A>T) c.593A>T (p.Asp198Val) c.335A>T (p.Asp112Val) n.231A>T c.316A>T n.866A>T n.833A>T | |
| 19 | g.11106587C>A | CA404079516 | LDLR | c.975C>A (p.Asp325Glu) c.717C>A (p.Asp239Glu) c.971C>A c.314-805C>A (n.314-805C>A) c.594C>A (p.Asp198Glu) c.336C>A (p.Asp112Glu) n.232C>A c.317C>A n.867C>A n.834C>A | |
| 19 | g.11106587C= | CA2322768153 | LDLR | c.975C= (p.Asp325=) c.717C= (p.Asp239=) c.971C= c.314-805C= (n.314-805C=) c.594C= (p.Asp198=) c.336C= (p.Asp112=) n.232C= c.317C= n.867C= n.834C= | |
| 19 | g.11106587C>G | CA404079512 | LDLR | c.975C>G (p.Asp325Glu) c.717C>G (p.Asp239Glu) c.971C>G c.314-805C>G (n.314-805C>G) c.594C>G (p.Asp198Glu) c.336C>G (p.Asp112Glu) n.232C>G c.317C>G n.867C>G n.834C>G | |
| 19 | g.11106587C>T | CA505484891 | LDLR | c.975C>T (p.Asp325=) c.717C>T (p.Asp239=) c.971C>T c.314-805C>T (n.314-805C>T) c.594C>T (p.Asp198=) c.336C>T (p.Asp112=) n.232C>T c.317C>T n.867C>T n.834C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106588G>A | CA023755 | LDLR | c.976G>A (p.Glu326Lys) c.718G>A (p.Glu240Lys) c.972G>A c.314-804G>A (n.314-804G>A) c.595G>A (p.Glu199Lys) c.337G>A (p.Glu113Lys) n.233G>A c.318G>A n.868G>A n.835G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11106588G>C | CA404079521 | LDLR | c.976G>C (p.Glu326Gln) c.718G>C (p.Glu240Gln) c.972G>C c.314-804G>C (n.314-804G>C) c.595G>C (p.Glu199Gln) c.337G>C (p.Glu113Gln) n.233G>C c.318G>C n.868G>C n.835G>C | |
| 19 | g.11106588G= | CA2322768154 | LDLR | c.976G= (p.Glu326=) c.718G= (p.Glu240=) c.972G= c.314-804G= (n.314-804G=) c.595G= (p.Glu199=) c.337G= (p.Glu113=) n.233G= c.318G= n.868G= n.835G= | |
| 19 | g.11106588G>T | CA10585103 | LDLR | c.976G>T (p.Glu326Ter) c.718G>T (p.Glu240Ter) c.972G>T c.314-804G>T (n.314-804G>T) c.595G>T (p.Glu199Ter) c.337G>T (p.Glu113Ter) n.233G>T c.318G>T n.868G>T n.835G>T | ClinVar dbSNP |
| 19 | g.11106589A>C | CA404079525 | LDLR | c.977A>C (p.Glu326Ala) c.719A>C (p.Glu240Ala) c.973A>C c.314-803A>C (n.314-803A>C) c.596A>C (p.Glu199Ala) c.338A>C (p.Glu113Ala) n.234A>C c.319A>C n.869A>C n.836A>C | COSMIC |
| 19 | g.11106589A>G | CA404079529 | LDLR | c.977A>G (p.Glu326Gly) c.719A>G (p.Glu240Gly) c.973A>G c.314-803A>G (n.314-803A>G) c.596A>G (p.Glu199Gly) c.338A>G (p.Glu113Gly) n.234A>G c.319A>G n.869A>G n.836A>G | |
| 19 | g.11106589A>T | CA404079549 | LDLR | c.977A>T (p.Glu326Val) c.719A>T (p.Glu240Val) c.973A>T c.314-803A>T (n.314-803A>T) c.596A>T (p.Glu199Val) c.338A>T (p.Glu113Val) n.234A>T c.319A>T n.869A>T n.836A>T | |
| 19 | g.11106590A= | CA2322768155 | LDLR | c.978A= (p.Glu326=) c.720A= (p.Glu240=) c.974A= c.314-802A= (n.314-802A=) c.597A= (p.Glu199=) c.339A= (p.Glu113=) n.235A= c.320A= n.870A= n.837A= | |
| 19 | g.11106590A>C | CA404079555 | LDLR | c.978A>C (p.Glu326Asp) c.720A>C (p.Glu240Asp) c.974A>C c.314-802A>C (n.314-802A>C) c.597A>C (p.Glu199Asp) c.339A>C (p.Glu113Asp) n.235A>C c.320A>C n.870A>C n.837A>C | |
| 19 | g.11106590A>G | CA044625 | LDLR | c.978A>G (p.Glu326=) c.720A>G (p.Glu240=) c.974A>G c.314-802A>G (n.314-802A>G) c.597A>G (p.Glu199=) c.339A>G (p.Glu113=) n.235A>G c.320A>G n.870A>G n.837A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106590A>T | CA404079561 | LDLR | c.978A>T (p.Glu326Asp) c.720A>T (p.Glu240Asp) c.974A>T c.314-802A>T (n.314-802A>T) c.597A>T (p.Glu199Asp) c.339A>T (p.Glu113Asp) n.235A>T c.320A>T n.870A>T n.837A>T | |
| 19 | g.11106591T>A | CA404079565 | LDLR | c.979T>A (p.Phe327Ile) c.721T>A (p.Phe241Ile) c.975T>A c.314-801T>A (n.314-801T>A) c.598T>A (p.Phe200Ile) c.340T>A (p.Phe114Ile) n.236T>A c.321T>A n.871T>A n.838T>A | |
| 19 | g.11106591T>C | CA404079568 | LDLR | c.979T>C (p.Phe327Leu) c.721T>C (p.Phe241Leu) c.975T>C c.314-801T>C (n.314-801T>C) c.598T>C (p.Phe200Leu) c.340T>C (p.Phe114Leu) n.236T>C c.321T>C n.871T>C n.838T>C | |
| 19 | g.11106591T>G | CA404079571 | LDLR | c.979T>G (p.Phe327Val) c.721T>G (p.Phe241Val) c.975T>G c.314-801T>G (n.314-801T>G) c.598T>G (p.Phe200Val) c.340T>G (p.Phe114Val) n.236T>G c.321T>G n.871T>G n.838T>G | |
| 19 | g.11106592del | CA2695228113 | LDLR | c.980del (p.Phe327SerfsTer24) c.722del (p.Phe241SerfsTer24) c.976del c.314-800del (n.314-800del) c.599del (p.Phe200SerfsTer24) c.341del (p.Phe114SerfsTer24) n.237del c.322del n.872del n.839del | |
| 19 | g.11106592T>A | CA404079575 | LDLR | c.980T>A (p.Phe327Tyr) c.722T>A (p.Phe241Tyr) c.976T>A c.314-800T>A (n.314-800T>A) c.599T>A (p.Phe200Tyr) c.341T>A (p.Phe114Tyr) n.237T>A c.322T>A n.872T>A n.839T>A | |
| 19 | g.11106592T>C | CA044642 | LDLR | c.980T>C (p.Phe327Ser) c.722T>C (p.Phe241Ser) c.976T>C c.314-800T>C (n.314-800T>C) c.599T>C (p.Phe200Ser) c.341T>C (p.Phe114Ser) n.237T>C c.322T>C n.872T>C n.839T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106592T>G | CA404079574 | LDLR | c.980T>G (p.Phe327Cys) c.722T>G (p.Phe241Cys) c.976T>G c.314-800T>G (n.314-800T>G) c.599T>G (p.Phe200Cys) c.341T>G (p.Phe114Cys) n.237T>G c.322T>G n.872T>G n.839T>G | ClinVar dbSNP |
| 19 | g.11106592T= | CA2322768156 | LDLR | c.980T= (p.Phe327=) c.722T= (p.Phe241=) c.976T= c.314-800T= (n.314-800T=) c.599T= (p.Phe200=) c.341T= (p.Phe114=) n.237T= c.322T= n.872T= n.839T= | |
| 19 | g.11106593C>A | CA404079576 | LDLR | c.981C>A (p.Phe327Leu) c.723C>A (p.Phe241Leu) c.977C>A c.314-799C>A (n.314-799C>A) c.600C>A (p.Phe200Leu) c.342C>A (p.Phe114Leu) n.238C>A c.323C>A n.873C>A n.840C>A | gnomAD v4 |
| 19 | g.11106593C>G | CA404079578 | LDLR | c.981C>G (p.Phe327Leu) c.723C>G (p.Phe241Leu) c.977C>G c.314-799C>G (n.314-799C>G) c.600C>G (p.Phe200Leu) c.342C>G (p.Phe114Leu) n.238C>G c.323C>G n.873C>G n.840C>G | |
| 19 | g.11106593C>T | CA505484892 | LDLR | c.981C>T (p.Phe327=) c.723C>T (p.Phe241=) c.977C>T c.314-799C>T (n.314-799C>T) c.600C>T (p.Phe200=) c.342C>T (p.Phe114=) n.238C>T c.323C>T n.873C>T n.840C>T | COSMIC |
| 19 | g.11106594C>A | CA404079580 | LDLR | c.982C>A (p.Gln328Lys) c.724C>A (p.Gln242Lys) c.978C>A c.314-798C>A (n.314-798C>A) c.601C>A (p.Gln201Lys) c.343C>A (p.Gln115Lys) n.239C>A c.324C>A n.874C>A n.841C>A | |
| 19 | g.11106594C= | CA2322768157 | LDLR | c.982C= (p.Gln328=) c.724C= (p.Gln242=) c.978C= c.314-798C= (n.314-798C=) c.601C= (p.Gln201=) c.343C= (p.Gln115=) n.239C= c.324C= n.874C= n.841C= | |
| 19 | g.11106594C>G | CA404079583 | LDLR | c.982C>G (p.Gln328Glu) c.724C>G (p.Gln242Glu) c.978C>G c.314-798C>G (n.314-798C>G) c.601C>G (p.Gln201Glu) c.343C>G (p.Gln115Glu) n.239C>G c.324C>G n.874C>G n.841C>G | |
| 19 | g.11106594C>T | CA10585104 | LDLR | c.982C>T (p.Gln328Ter) c.724C>T (p.Gln242Ter) c.978C>T c.314-798C>T (n.314-798C>T) c.601C>T (p.Gln201Ter) c.343C>T (p.Gln115Ter) n.239C>T c.324C>T n.874C>T n.841C>T | ClinVar dbSNP |
| 19 | g.11106595del | CA2695228114 | LDLR | c.983del (p.Gln328ArgfsTer23) c.725del (p.Gln242ArgfsTer23) c.979del c.314-797del (n.314-797del) c.602del (p.Gln201ArgfsTer23) c.344del (p.Gln115ArgfsTer23) n.240del c.325del n.875del n.842del | |
| 19 | g.11106595A>C | CA404079587 | LDLR | c.983A>C (p.Gln328Pro) c.725A>C (p.Gln242Pro) c.979A>C c.314-797A>C (n.314-797A>C) c.602A>C (p.Gln201Pro) c.344A>C (p.Gln115Pro) n.240A>C c.325A>C n.875A>C n.842A>C | |
| 19 | g.11106595A>G | CA404079590 | LDLR | c.983A>G (p.Gln328Arg) c.725A>G (p.Gln242Arg) c.979A>G c.314-797A>G (n.314-797A>G) c.602A>G (p.Gln201Arg) c.344A>G (p.Gln115Arg) n.240A>G c.325A>G n.875A>G n.842A>G | |
| 19 | g.11106595A>T | CA404079591 | LDLR | c.983A>T (p.Gln328Leu) c.725A>T (p.Gln242Leu) c.979A>T c.314-797A>T (n.314-797A>T) c.602A>T (p.Gln201Leu) c.344A>T (p.Gln115Leu) n.240A>T c.325A>T n.875A>T n.842A>T | |
| 19 | g.11106596G>A | CA505484893 | LDLR | c.984G>A (p.Gln328=) c.726G>A (p.Gln242=) c.980G>A c.314-796G>A (n.314-796G>A) c.603G>A (p.Gln201=) c.345G>A (p.Gln115=) n.241G>A c.326G>A n.876G>A n.843G>A | |
| 19 | g.11106596G>C | CA404079595 | LDLR | c.984G>C (p.Gln328His) c.726G>C (p.Gln242His) c.980G>C c.314-796G>C (n.314-796G>C) c.603G>C (p.Gln201His) c.345G>C (p.Gln115His) n.241G>C c.326G>C n.876G>C n.843G>C | |
| 19 | g.11106596G>T | CA404079598 | LDLR | c.984G>T (p.Gln328His) c.726G>T (p.Gln242His) c.980G>T c.314-796G>T (n.314-796G>T) c.603G>T (p.Gln201His) c.345G>T (p.Gln115His) n.241G>T c.326G>T n.876G>T n.843G>T | |
| 19 | g.11106597T>A | CA404079600 | LDLR | c.985T>A (p.Cys329Ser) c.727T>A (p.Cys243Ser) c.981T>A c.314-795T>A (n.314-795T>A) c.604T>A (p.Cys202Ser) c.346T>A (p.Cys116Ser) n.242T>A c.327T>A n.877T>A n.844T>A | ClinVar dbSNP |
| 19 | g.11106597T>C | CA10585105 | LDLR | c.985T>C (p.Cys329Arg) c.727T>C (p.Cys243Arg) c.981T>C c.314-795T>C (n.314-795T>C) c.604T>C (p.Cys202Arg) c.346T>C (p.Cys116Arg) n.242T>C c.327T>C n.877T>C n.844T>C | ClinVar dbSNP |
| 19 | g.11106597T>G | CA404079605 | LDLR | c.985T>G (p.Cys329Gly) c.727T>G (p.Cys243Gly) c.981T>G c.314-795T>G (n.314-795T>G) c.604T>G (p.Cys202Gly) c.346T>G (p.Cys116Gly) n.242T>G c.327T>G n.877T>G n.844T>G | |
| 19 | g.11106597T= | CA2322768158 | LDLR | c.985T= (p.Cys329=) c.727T= (p.Cys243=) c.981T= c.314-795T= (n.314-795T=) c.604T= (p.Cys202=) c.346T= (p.Cys116=) n.242T= c.327T= n.877T= n.844T= | |
| 19 | g.11106598G>A | CA404079613 | LDLR | c.986G>A (p.Cys329Tyr) c.728G>A (p.Cys243Tyr) c.982G>A c.314-794G>A (n.314-794G>A) c.605G>A (p.Cys202Tyr) c.347G>A (p.Cys116Tyr) n.243G>A c.328G>A n.878G>A n.845G>A | |
| 19 | g.11106598G>C | CA404079610 | LDLR | c.986G>C (p.Cys329Ser) c.728G>C (p.Cys243Ser) c.982G>C c.314-794G>C (n.314-794G>C) c.605G>C (p.Cys202Ser) c.347G>C (p.Cys116Ser) n.243G>C c.328G>C n.878G>C n.845G>C | |
| 19 | g.11106598G>T | CA404079607 | LDLR | c.986G>T (p.Cys329Phe) c.728G>T (p.Cys243Phe) c.982G>T c.314-794G>T (n.314-794G>T) c.605G>T (p.Cys202Phe) c.347G>T (p.Cys116Phe) n.243G>T c.328G>T n.878G>T n.845G>T | |
| 19 | g.11106599C>A | CA404079620 | LDLR | c.987C>A (p.Cys329Ter) c.729C>A (p.Cys243Ter) c.983C>A c.314-793C>A (n.314-793C>A) c.606C>A (p.Cys202Ter) c.348C>A (p.Cys116Ter) n.244C>A c.329C>A n.879C>A n.846C>A | gnomAD v4 |
| 19 | g.11106599C>G | CA404079617 | LDLR | c.987C>G (p.Cys329Trp) c.729C>G (p.Cys243Trp) c.983C>G c.314-793C>G (n.314-793C>G) c.606C>G (p.Cys202Trp) c.348C>G (p.Cys116Trp) n.244C>G c.329C>G n.879C>G n.846C>G | |
| 19 | g.11106599C>T | CA505484894 | LDLR | c.987C>T (p.Cys329=) c.729C>T (p.Cys243=) c.983C>T c.314-793C>T (n.314-793C>T) c.606C>T (p.Cys202=) c.348C>T (p.Cys116=) n.244C>T c.329C>T n.879C>T n.846C>T | ClinVar |
| 19 | g.11106600T>A | CA404079625 | LDLR | c.988T>A (p.Ser330Thr) c.730T>A (p.Ser244Thr) c.984T>A c.314-792T>A (n.314-792T>A) c.607T>A (p.Ser203Thr) c.349T>A (p.Ser117Thr) n.245T>A c.330T>A n.880T>A n.847T>A | |
| 19 | g.11106600T>C | CA404079627 | LDLR | c.988T>C (p.Ser330Pro) c.730T>C (p.Ser244Pro) c.984T>C c.314-792T>C (n.314-792T>C) c.607T>C (p.Ser203Pro) c.349T>C (p.Ser117Pro) n.245T>C c.330T>C n.880T>C n.847T>C | |
| 19 | g.11106600T>G | CA404079631 | LDLR | c.988T>G (p.Ser330Ala) c.730T>G (p.Ser244Ala) c.984T>G c.314-792T>G (n.314-792T>G) c.607T>G (p.Ser203Ala) c.349T>G (p.Ser117Ala) n.245T>G c.330T>G n.880T>G n.847T>G | gnomAD v4 |
| 19 | g.11106601C>A | CA404079635 | LDLR | c.989C>A (p.Ser330Tyr) c.731C>A (p.Ser244Tyr) c.985C>A c.314-791C>A (n.314-791C>A) c.608C>A (p.Ser203Tyr) c.350C>A (p.Ser117Tyr) n.246C>A c.331C>A n.881C>A n.848C>A | |
| 19 | g.11106601C= | CA2322768159 | LDLR | c.989C= (p.Ser330=) c.731C= (p.Ser244=) c.985C= c.314-791C= (n.314-791C=) c.608C= (p.Ser203=) c.350C= (p.Ser117=) n.246C= c.331C= n.881C= n.848C= | |
| 19 | g.11106601C>G | CA404079636 | LDLR | c.989C>G (p.Ser330Cys) c.731C>G (p.Ser244Cys) c.985C>G c.314-791C>G (n.314-791C>G) c.608C>G (p.Ser203Cys) c.350C>G (p.Ser117Cys) n.246C>G c.331C>G n.881C>G n.848C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106601C>T | CA404079640 | LDLR | c.989C>T (p.Ser330Phe) c.731C>T (p.Ser244Phe) c.985C>T c.314-791C>T (n.314-791C>T) c.608C>T (p.Ser203Phe) c.350C>T (p.Ser117Phe) n.246C>T c.331C>T n.881C>T n.848C>T | |
| 19 | g.11106602del | CA2573050585 | LDLR | c.990del (p.Asp331MetfsTer20) c.732del (p.Asp245MetfsTer20) c.986del c.314-790del (n.314-790del) c.609del (p.Asp204MetfsTer20) c.351del (p.Asp118MetfsTer20) n.247del c.332del n.882del n.849del | |
| 19 | g.11106602T>A | CA505484895 | LDLR | c.990T>A (p.Ser330=) c.732T>A (p.Ser244=) c.986T>A c.314-790T>A (n.314-790T>A) c.609T>A (p.Ser203=) c.351T>A (p.Ser117=) n.247T>A c.332T>A n.882T>A n.849T>A | |
| 19 | g.11106602T>C | CA505484896 | LDLR | c.990T>C (p.Ser330=) c.732T>C (p.Ser244=) c.986T>C c.314-790T>C (n.314-790T>C) c.609T>C (p.Ser203=) c.351T>C (p.Ser117=) n.247T>C c.332T>C n.882T>C n.849T>C | |
| 19 | g.11106602T>G | CA505484897 | LDLR | c.990T>G (p.Ser330=) c.732T>G (p.Ser244=) c.986T>G c.314-790T>G (n.314-790T>G) c.609T>G (p.Ser203=) c.351T>G (p.Ser117=) n.247T>G c.332T>G n.882T>G n.849T>G | |
| 19 | g.11106603G>A | CA404079648 | LDLR | c.991G>A (p.Asp331Asn) c.733G>A (p.Asp245Asn) c.987G>A c.314-789G>A (n.314-789G>A) c.610G>A (p.Asp204Asn) c.352G>A (p.Asp118Asn) n.248G>A c.333G>A n.883G>A n.850G>A | |
| 19 | g.11106603G>C | CA404079643 | LDLR | c.991G>C (p.Asp331His) c.733G>C (p.Asp245His) c.987G>C c.314-789G>C (n.314-789G>C) c.610G>C (p.Asp204His) c.352G>C (p.Asp118His) n.248G>C c.333G>C n.883G>C n.850G>C | |
| 19 | g.11106603G>T | CA404079645 | LDLR | c.991G>T (p.Asp331Tyr) c.733G>T (p.Asp245Tyr) c.987G>T c.314-789G>T (n.314-789G>T) c.610G>T (p.Asp204Tyr) c.352G>T (p.Asp118Tyr) n.248G>T c.333G>T n.883G>T n.850G>T | COSMIC |
| 19 | g.11106603dup | CA2695238653 | LDLR | c.991dup (p.Asp331GlyfsTer12) c.733dup (p.Asp245GlyfsTer12) c.987dup c.314-789dup (n.314-789dup) c.610dup (p.Asp204GlyfsTer12) c.352dup (p.Asp118GlyfsTer12) n.248dup c.333dup n.883dup n.850dup | |
| 19 | g.11106604A>C | CA404079651 | LDLR | c.992A>C (p.Asp331Ala) c.734A>C (p.Asp245Ala) c.988A>C c.314-788A>C (n.314-788A>C) c.611A>C (p.Asp204Ala) c.353A>C (p.Asp118Ala) n.249A>C c.334A>C n.884A>C n.851A>C | |
| 19 | g.11106604A>G | CA404079654 | LDLR | c.992A>G (p.Asp331Gly) c.734A>G (p.Asp245Gly) c.988A>G c.314-788A>G (n.314-788A>G) c.611A>G (p.Asp204Gly) c.353A>G (p.Asp118Gly) n.249A>G c.334A>G n.884A>G n.851A>G | |
| 19 | g.11106604A>T | CA404079655 | LDLR | c.992A>T (p.Asp331Val) c.734A>T (p.Asp245Val) c.988A>T c.314-788A>T (n.314-788A>T) c.611A>T (p.Asp204Val) c.353A>T (p.Asp118Val) n.249A>T c.334A>T n.884A>T n.851A>T | |
| 19 | g.11106605T>A | CA16609323 | LDLR | c.993T>A (p.Asp331Glu) c.735T>A (p.Asp245Glu) c.989T>A c.314-787T>A (n.314-787T>A) c.612T>A (p.Asp204Glu) c.354T>A (p.Asp118Glu) n.250T>A c.335T>A n.885T>A n.852T>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11106605T>C | CA505484898 | LDLR | c.993T>C (p.Asp331=) c.735T>C (p.Asp245=) c.989T>C c.314-787T>C (n.314-787T>C) c.612T>C (p.Asp204=) c.354T>C (p.Asp118=) n.250T>C c.335T>C n.885T>C n.852T>C | ClinVar dbSNP |
| 19 | g.11106605T>G | CA404079665 | LDLR | c.993T>G (p.Asp331Glu) c.735T>G (p.Asp245Glu) c.989T>G c.314-787T>G (n.314-787T>G) c.612T>G (p.Asp204Glu) c.354T>G (p.Asp118Glu) n.250T>G c.335T>G n.885T>G n.852T>G | |
| 19 | g.11106605T= | CA2322768161 | LDLR | c.993T= (p.Asp331=) c.735T= (p.Asp245=) c.989T= c.314-787T= (n.314-787T=) c.612T= (p.Asp204=) c.354T= (p.Asp118=) n.250T= c.335T= n.885T= n.852T= | |
| 19 | g.11106605_11106606delinsTG | CA2322768160 | LDLR | c.993_994delinsTG (p.Asp331=) c.735_736delinsTG (p.Asp245=) c.989_990delinsTG c.314-787_314-786delinsTG (n.314-787_314-786delinsTG) c.612_613delinsTG (p.Asp204=) c.354_355delinsTG (p.Asp118=) n.250_251delinsTG c.335_336delinsTG n.885_886delinsTG n.852_853delinsTG | |
| 19 | g.11106606G>A | CA044657 | LDLR | c.994G>A (p.Gly332Arg) c.736G>A (p.Gly246Arg) c.990G>A c.314-786G>A (n.314-786G>A) c.613G>A (p.Gly205Arg) c.355G>A (p.Gly119Arg) n.251G>A c.336G>A n.886G>A n.853G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106606G>C | CA404079673 | LDLR | c.994G>C (p.Gly332Arg) c.736G>C (p.Gly246Arg) c.990G>C c.314-786G>C (n.314-786G>C) c.613G>C (p.Gly205Arg) c.355G>C (p.Gly119Arg) n.251G>C c.336G>C n.886G>C n.853G>C | |
| 19 | g.11106606G= | CA2322768162 | LDLR | c.994G= (p.Gly332=) c.736G= (p.Gly246=) c.990G= c.314-786G= (n.314-786G=) c.613G= (p.Gly205=) c.355G= (p.Gly119=) n.251G= c.336G= n.886G= n.853G= | |
| 19 | g.11106606G>T | CA404079671 | LDLR | c.994G>T (p.Gly332Ter) c.736G>T (p.Gly246Ter) c.990G>T c.314-786G>T (n.314-786G>T) c.613G>T (p.Gly205Ter) c.355G>T (p.Gly119Ter) n.251G>T c.336G>T n.886G>T n.853G>T | |
| 19 | g.11106607del | CA10585107 | LDLR | c.995del (p.Gly332GlufsTer19) c.737del (p.Gly246GlufsTer19) c.991del c.314-785del (n.314-785del) c.614del (p.Gly205GlufsTer19) c.356del (p.Gly119GlufsTer19) n.252del c.337del n.887del n.854del | ClinVar dbSNP |
| 19 | g.11106607G>A | CA10585106 | LDLR | c.995G>A (p.Gly332Glu) c.737G>A (p.Gly246Glu) c.991G>A c.314-785G>A (n.314-785G>A) c.614G>A (p.Gly205Glu) c.356G>A (p.Gly119Glu) n.252G>A c.337G>A n.887G>A n.854G>A | ClinVar dbSNP |
| 19 | g.11106607G>C | CA404079677 | LDLR | c.995G>C (p.Gly332Ala) c.737G>C (p.Gly246Ala) c.991G>C c.314-785G>C (n.314-785G>C) c.614G>C (p.Gly205Ala) c.356G>C (p.Gly119Ala) n.252G>C c.337G>C n.887G>C n.854G>C | |
| 19 | g.11106607G= | CA2322768163 | LDLR | c.995G= (p.Gly332=) c.737G= (p.Gly246=) c.991G= c.314-785G= (n.314-785G=) c.614G= (p.Gly205=) c.356G= (p.Gly119=) n.252G= c.337G= n.887G= n.854G= | |
| 19 | g.11106607G>T | CA404079680 | LDLR | c.995G>T (p.Gly332Val) c.737G>T (p.Gly246Val) c.991G>T c.314-785G>T (n.314-785G>T) c.614G>T (p.Gly205Val) c.356G>T (p.Gly119Val) n.252G>T c.337G>T n.887G>T n.854G>T | ClinVar dbSNP |
| 19 | g.11106608A= | CA2322768164 | LDLR | c.996A= (p.Gly332=) c.738A= (p.Gly246=) c.992A= c.314-784A= (n.314-784A=) c.615A= (p.Gly205=) c.357A= (p.Gly119=) n.253A= c.338A= n.888A= n.855A= | |
| 19 | g.11106608A>C | CA505484899 | LDLR | c.996A>C (p.Gly332=) c.738A>C (p.Gly246=) c.992A>C c.314-784A>C (n.314-784A>C) c.615A>C (p.Gly205=) c.357A>C (p.Gly119=) n.253A>C c.338A>C n.888A>C n.855A>C | |
| 19 | g.11106608A>G | CA505484900 | LDLR | c.996A>G (p.Gly332=) c.738A>G (p.Gly246=) c.992A>G c.314-784A>G (n.314-784A>G) c.615A>G (p.Gly205=) c.357A>G (p.Gly119=) n.253A>G c.338A>G n.888A>G n.855A>G | ClinVar dbSNP |
| 19 | g.11106608A>T | CA505484901 | LDLR | c.996A>T (p.Gly332=) c.738A>T (p.Gly246=) c.992A>T c.314-784A>T (n.314-784A>T) c.615A>T (p.Gly205=) c.357A>T (p.Gly119=) n.253A>T c.338A>T n.888A>T n.855A>T | |
| 19 | g.11106609A>C | CA404079684 | LDLR | c.997A>C (p.Asn333His) c.739A>C (p.Asn247His) c.993A>C c.314-783A>C (n.314-783A>C) c.616A>C (p.Asn206His) c.358A>C (p.Asn120His) n.254A>C c.339A>C n.889A>C n.856A>C | |
| 19 | g.11106609A>G | CA404079686 | LDLR | c.997A>G (p.Asn333Asp) c.739A>G (p.Asn247Asp) c.993A>G c.314-783A>G (n.314-783A>G) c.616A>G (p.Asn206Asp) c.358A>G (p.Asn120Asp) n.254A>G c.339A>G n.889A>G n.856A>G | |
| 19 | g.11106609A>T | CA404079688 | LDLR | c.997A>T (p.Asn333Tyr) c.739A>T (p.Asn247Tyr) c.993A>T c.314-783A>T (n.314-783A>T) c.616A>T (p.Asn206Tyr) c.358A>T (p.Asn120Tyr) n.254A>T c.339A>T n.889A>T n.856A>T | |
| 19 | g.11106610A= | CA2322768165 | LDLR | c.998A= (p.Asn333=) c.740A= (p.Asn247=) c.994A= c.314-782A= (n.314-782A=) c.617A= (p.Asn206=) c.359A= (p.Asn120=) n.255A= c.340A= n.890A= n.857A= | |
| 19 | g.11106610A>C | CA404079689 | LDLR | c.998A>C (p.Asn333Thr) c.740A>C (p.Asn247Thr) c.994A>C c.314-782A>C (n.314-782A>C) c.617A>C (p.Asn206Thr) c.359A>C (p.Asn120Thr) n.255A>C c.340A>C n.890A>C n.857A>C | |
| 19 | g.11106610A>G | CA404079691 | LDLR | c.998A>G (p.Asn333Ser) c.740A>G (p.Asn247Ser) c.994A>G c.314-782A>G (n.314-782A>G) c.617A>G (p.Asn206Ser) c.359A>G (p.Asn120Ser) n.255A>G c.340A>G n.890A>G n.857A>G | dbSNP gnomAD v4 |
| 19 | g.11106610A>T | CA404079694 | LDLR | c.998A>T (p.Asn333Ile) c.740A>T (p.Asn247Ile) c.994A>T c.314-782A>T (n.314-782A>T) c.617A>T (p.Asn206Ile) c.359A>T (p.Asn120Ile) n.255A>T c.340A>T n.890A>T n.857A>T | |
| 19 | g.11106611C>A | CA404079696 | LDLR | c.999C>A (p.Asn333Lys) c.741C>A (p.Asn247Lys) c.995C>A c.314-781C>A (n.314-781C>A) c.618C>A (p.Asn206Lys) c.360C>A (p.Asn120Lys) n.256C>A c.341C>A n.891C>A n.858C>A | |
| 19 | g.11106611C>G | CA404079698 | LDLR | c.999C>G (p.Asn333Lys) c.741C>G (p.Asn247Lys) c.995C>G c.314-781C>G (n.314-781C>G) c.618C>G (p.Asn206Lys) c.360C>G (p.Asn120Lys) n.256C>G c.341C>G n.891C>G n.858C>G | COSMIC |
| 19 | g.11106611C>T | CA505484923 | LDLR | c.999C>T (p.Asn333=) c.741C>T (p.Asn247=) c.995C>T c.314-781C>T (n.314-781C>T) c.618C>T (p.Asn206=) c.360C>T (p.Asn120=) n.256C>T c.341C>T n.891C>T n.858C>T | ClinVar |
| 19 | g.11106612T>A | CA404079700 | LDLR | c.1000T>A (p.Cys334Ser) c.742T>A (p.Cys248Ser) c.996T>A c.314-780T>A (n.314-780T>A) c.619T>A (p.Cys207Ser) c.361T>A (p.Cys121Ser) n.257T>A c.342T>A n.892T>A n.859T>A | |
| 19 | g.11106612T>C | CA404079703 | LDLR | c.1000T>C (p.Cys334Arg) c.742T>C (p.Cys248Arg) c.996T>C c.314-780T>C (n.314-780T>C) c.619T>C (p.Cys207Arg) c.361T>C (p.Cys121Arg) n.257T>C c.342T>C n.892T>C n.859T>C | |
| 19 | g.11106612T>G | CA10585108 | LDLR | c.1000T>G (p.Cys334Gly) c.742T>G (p.Cys248Gly) c.996T>G c.314-780T>G (n.314-780T>G) c.619T>G (p.Cys207Gly) c.361T>G (p.Cys121Gly) n.257T>G c.342T>G n.892T>G n.859T>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106612T= | CA2322768166 | LDLR | c.1000T= (p.Cys334=) c.742T= (p.Cys248=) c.996T= c.314-780T= (n.314-780T=) c.619T= (p.Cys207=) c.361T= (p.Cys121=) n.257T= c.342T= n.892T= n.859T= | |
| 19 | g.11106613G>A | CA10585109 | LDLR | c.1001G>A (p.Cys334Tyr) c.743G>A (p.Cys248Tyr) c.997G>A c.314-779G>A (n.314-779G>A) c.620G>A (p.Cys207Tyr) c.362G>A (p.Cys121Tyr) n.258G>A c.343G>A n.893G>A n.860G>A | ClinVar dbSNP COSMIC |
| 19 | g.11106613G>C | CA16602314 | LDLR | c.1001G>C (p.Cys334Ser) c.743G>C (p.Cys248Ser) c.997G>C c.314-779G>C (n.314-779G>C) c.620G>C (p.Cys207Ser) c.362G>C (p.Cys121Ser) n.258G>C c.343G>C n.893G>C n.860G>C | ClinVar dbSNP |
| 19 | g.11106613G= | CA2322768167 | LDLR | c.1001G= (p.Cys334=) c.743G= (p.Cys248=) c.997G= c.314-779G= (n.314-779G=) c.620G= (p.Cys207=) c.362G= (p.Cys121=) n.258G= c.343G= n.893G= n.860G= | |
| 19 | g.11106613G>T | CA10585110 | LDLR | c.1001G>T (p.Cys334Phe) c.743G>T (p.Cys248Phe) c.997G>T c.314-779G>T (n.314-779G>T) c.620G>T (p.Cys207Phe) c.362G>T (p.Cys121Phe) n.258G>T c.343G>T n.893G>T n.860G>T | ClinVar dbSNP |
| 19 | g.11106614C>A | CA10585111 | LDLR | c.1002C>A (p.Cys334Ter) c.744C>A (p.Cys248Ter) c.998C>A c.314-778C>A (n.314-778C>A) c.621C>A (p.Cys207Ter) c.363C>A (p.Cys121Ter) n.259C>A c.344C>A n.894C>A n.861C>A | ClinVar dbSNP |
| 19 | g.11106614C= | CA2322768168 | LDLR | c.1002C= (p.Cys334=) c.744C= (p.Cys248=) c.998C= c.314-778C= (n.314-778C=) c.621C= (p.Cys207=) c.363C= (p.Cys121=) n.259C= c.344C= n.894C= n.861C= | |
| 19 | g.11106614C>G | CA404079709 | LDLR | c.1002C>G (p.Cys334Trp) c.744C>G (p.Cys248Trp) c.998C>G c.314-778C>G (n.314-778C>G) c.621C>G (p.Cys207Trp) c.363C>G (p.Cys121Trp) n.259C>G c.344C>G n.894C>G n.861C>G | |
| 19 | g.11106614C>T | CA505484925 | LDLR | c.1002C>T (p.Cys334=) c.744C>T (p.Cys248=) c.998C>T c.314-778C>T (n.314-778C>T) c.621C>T (p.Cys207=) c.363C>T (p.Cys121=) n.259C>T c.344C>T n.894C>T n.861C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106615A>C | CA404079711 | LDLR | c.1003A>C (p.Ile335Leu) c.745A>C (p.Ile249Leu) c.999A>C c.314-777A>C (n.314-777A>C) c.622A>C (p.Ile208Leu) c.364A>C (p.Ile122Leu) n.260A>C c.345A>C n.895A>C n.862A>C | |
| 19 | g.11106615A>G | CA404079713 | LDLR | c.1003A>G (p.Ile335Val) c.745A>G (p.Ile249Val) c.999A>G c.314-777A>G (n.314-777A>G) c.622A>G (p.Ile208Val) c.364A>G (p.Ile122Val) n.260A>G c.345A>G n.895A>G n.862A>G | COSMIC |
| 19 | g.11106615A>T | CA404079714 | LDLR | c.1003A>T (p.Ile335Phe) c.745A>T (p.Ile249Phe) c.999A>T c.314-777A>T (n.314-777A>T) c.622A>T (p.Ile208Phe) c.364A>T (p.Ile122Phe) n.260A>T c.345A>T n.895A>T n.862A>T | |
| 19 | g.11106616T>A | CA404079716 | LDLR | c.1004T>A (p.Ile335Asn) c.746T>A (p.Ile249Asn) c.1000T>A c.314-776T>A (n.314-776T>A) c.623T>A (p.Ile208Asn) c.365T>A (p.Ile122Asn) n.261T>A c.346T>A n.896T>A n.863T>A | |
| 19 | g.11106616T>C | CA10585112 | LDLR | c.1004T>C (p.Ile335Thr) c.746T>C (p.Ile249Thr) c.1000T>C c.314-776T>C (n.314-776T>C) c.623T>C (p.Ile208Thr) c.365T>C (p.Ile122Thr) n.261T>C c.346T>C n.896T>C n.863T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106616T>G | CA404079717 | LDLR | c.1004T>G (p.Ile335Ser) c.746T>G (p.Ile249Ser) c.1000T>G c.314-776T>G (n.314-776T>G) c.623T>G (p.Ile208Ser) c.365T>G (p.Ile122Ser) n.261T>G c.346T>G n.896T>G n.863T>G | |
| 19 | g.11106616T= | CA2322768169 | LDLR | c.1004T= (p.Ile335=) c.746T= (p.Ile249=) c.1000T= c.314-776T= (n.314-776T=) c.623T= (p.Ile208=) c.365T= (p.Ile122=) n.261T= c.346T= n.896T= n.863T= | |
| 19 | g.11106617C>A | CA505484927 | LDLR | c.1005C>A (p.Ile335=) c.747C>A (p.Ile249=) c.1001C>A c.314-775C>A (n.314-775C>A) c.624C>A (p.Ile208=) c.366C>A (p.Ile122=) n.262C>A c.347C>A n.897C>A n.864C>A | gnomAD v4 |
| 19 | g.11106617C>G | CA404079720 | LDLR | c.1005C>G (p.Ile335Met) c.747C>G (p.Ile249Met) c.1001C>G c.314-775C>G (n.314-775C>G) c.624C>G (p.Ile208Met) c.366C>G (p.Ile122Met) n.262C>G c.347C>G n.897C>G n.864C>G | |
| 19 | g.11106617C>T | CA505484929 | LDLR | c.1005C>T (p.Ile335=) c.747C>T (p.Ile249=) c.1001C>T c.314-775C>T (n.314-775C>T) c.624C>T (p.Ile208=) c.366C>T (p.Ile122=) n.262C>T c.347C>T n.897C>T n.864C>T | ClinVar |
| 19 | g.11106618C>A | CA404079724 | LDLR | c.1006C>A (p.His336Asn) c.748C>A (p.His250Asn) c.1002C>A c.314-774C>A (n.314-774C>A) c.625C>A (p.His209Asn) c.367C>A (p.His123Asn) n.263C>A c.348C>A n.898C>A n.865C>A | |
| 19 | g.11106618C>G | CA404079722 | LDLR | c.1006C>G (p.His336Asp) c.748C>G (p.His250Asp) c.1002C>G c.314-774C>G (n.314-774C>G) c.625C>G (p.His209Asp) c.367C>G (p.His123Asp) n.263C>G c.348C>G n.898C>G n.865C>G | |
| 19 | g.11106618C>T | CA404079723 | LDLR | c.1006C>T (p.His336Tyr) c.748C>T (p.His250Tyr) c.1002C>T c.314-774C>T (n.314-774C>T) c.625C>T (p.His209Tyr) c.367C>T (p.His123Tyr) n.263C>T c.348C>T n.898C>T n.865C>T | |
| 19 | g.11106619A= | CA2322768170 | LDLR | c.1007A= (p.His336=) c.749A= (p.His250=) c.1003A= c.314-773A= (n.314-773A=) c.626A= (p.His209=) c.368A= (p.His123=) n.264A= c.349A= n.899A= n.866A= | |
| 19 | g.11106619A>C | CA404079726 | LDLR | c.1007A>C (p.His336Pro) c.749A>C (p.His250Pro) c.1003A>C c.314-773A>C (n.314-773A>C) c.626A>C (p.His209Pro) c.368A>C (p.His123Pro) n.264A>C c.349A>C n.899A>C n.866A>C | gnomAD v4 |
| 19 | g.11106619A>G | CA404079728 | LDLR | c.1007A>G (p.His336Arg) c.749A>G (p.His250Arg) c.1003A>G c.314-773A>G (n.314-773A>G) c.626A>G (p.His209Arg) c.368A>G (p.His123Arg) n.264A>G c.349A>G n.899A>G n.866A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106619A>T | CA404079731 | LDLR | c.1007A>T (p.His336Leu) c.749A>T (p.His250Leu) c.1003A>T c.314-773A>T (n.314-773A>T) c.626A>T (p.His209Leu) c.368A>T (p.His123Leu) n.264A>T c.349A>T n.899A>T n.866A>T | |
| 19 | g.11106620T>A | CA305298358 | LDLR | c.1008T>A (p.His336Gln) c.750T>A (p.His250Gln) c.1004T>A c.314-772T>A (n.314-772T>A) c.627T>A (p.His209Gln) c.369T>A (p.His123Gln) n.265T>A c.350T>A n.900T>A n.867T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106620T>C | CA10585113 | LDLR | c.1008T>C (p.His336=) c.750T>C (p.His250=) c.1004T>C c.314-772T>C (n.314-772T>C) c.627T>C (p.His209=) c.369T>C (p.His123=) n.265T>C c.350T>C n.900T>C n.867T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11106620T>G | CA404079742 | LDLR | c.1008T>G (p.His336Gln) c.750T>G (p.His250Gln) c.1004T>G c.314-772T>G (n.314-772T>G) c.627T>G (p.His209Gln) c.369T>G (p.His123Gln) n.265T>G c.350T>G n.900T>G n.867T>G | |
| 19 | g.11106620T= | CA2322768171 | LDLR | c.1008T= (p.His336=) c.750T= (p.His250=) c.1004T= c.314-772T= (n.314-772T=) c.627T= (p.His209=) c.369T= (p.His123=) n.265T= c.350T= n.900T= n.867T= | |
| 19 | g.11106621G>A | CA029211 | LDLR | c.1009G>A (p.Gly337Ser) c.751G>A (p.Gly251Ser) c.1005G>A c.314-771G>A (n.314-771G>A) c.628G>A (p.Gly210Ser) c.370G>A (p.Gly124Ser) n.266G>A c.351G>A n.901G>A n.868G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106621G>C | CA404079749 | LDLR | c.1009G>C (p.Gly337Arg) c.751G>C (p.Gly251Arg) c.1005G>C c.314-771G>C (n.314-771G>C) c.628G>C (p.Gly210Arg) c.370G>C (p.Gly124Arg) n.266G>C c.351G>C n.901G>C n.868G>C | |
| 19 | g.11106621G= | CA2322768172 | LDLR | c.1009G= (p.Gly337=) c.751G= (p.Gly251=) c.1005G= c.314-771G= (n.314-771G=) c.628G= (p.Gly210=) c.370G= (p.Gly124=) n.266G= c.351G= n.901G= n.868G= | |
| 19 | g.11106621G>T | CA404079753 | LDLR | c.1009G>T (p.Gly337Cys) c.751G>T (p.Gly251Cys) c.1005G>T c.314-771G>T (n.314-771G>T) c.628G>T (p.Gly210Cys) c.370G>T (p.Gly124Cys) n.266G>T c.351G>T n.901G>T n.868G>T | |
| 19 | g.11106622dup | CA10585114 | LDLR | c.1010dup (p.Ser338GlnfsTer5) c.752dup (p.Ser252GlnfsTer5) c.1006dup c.314-770dup (n.314-770dup) c.629dup (p.Ser211GlnfsTer5) c.371dup (p.Ser125GlnfsTer5) n.267dup c.352dup n.902dup n.869dup | ClinVar dbSNP |
| 19 | g.11106626_11106632del | CA2573050586 | LDLR | c.1014_1020del (p.Arg339ValfsTer10) c.756_762del (p.Arg253ValfsTer10) c.1010_1016del c.314-766_314-760del (n.314-766_314-760del) c.633_639del (p.Arg212ValfsTer10) c.375_381del (p.Arg126ValfsTer10) n.271_277del c.356_362del n.906_912del n.873_879del | |
| 19 | g.11106622G>A | CA404079757 | LDLR | c.1010G>A (p.Gly337Asp) c.752G>A (p.Gly251Asp) c.1006G>A c.314-770G>A (n.314-770G>A) c.629G>A (p.Gly210Asp) c.371G>A (p.Gly124Asp) n.267G>A c.352G>A n.902G>A n.869G>A | ClinVar dbSNP |
| 19 | g.11106622G>C | CA404079761 | LDLR | c.1010G>C (p.Gly337Ala) c.752G>C (p.Gly251Ala) c.1006G>C c.314-770G>C (n.314-770G>C) c.629G>C (p.Gly210Ala) c.371G>C (p.Gly124Ala) n.267G>C c.352G>C n.902G>C n.869G>C | |
| 19 | g.11106622G= | CA2322768173 | LDLR | c.1010G= (p.Gly337=) c.752G= (p.Gly251=) c.1006G= c.314-770G= (n.314-770G=) c.629G= (p.Gly210=) c.371G= (p.Gly124=) n.267G= c.352G= n.902G= n.869G= | |
| 19 | g.11106622G>T | CA404079765 | LDLR | c.1010G>T (p.Gly337Val) c.752G>T (p.Gly251Val) c.1006G>T c.314-770G>T (n.314-770G>T) c.629G>T (p.Gly210Val) c.371G>T (p.Gly124Val) n.267G>T c.352G>T n.902G>T n.869G>T | |
| 19 | g.11106623C>A | CA505484931 | LDLR | c.1011C>A (p.Gly337=) c.753C>A (p.Gly251=) c.1007C>A c.314-769C>A (n.314-769C>A) c.630C>A (p.Gly210=) c.372C>A (p.Gly124=) n.268C>A c.353C>A n.903C>A n.870C>A | |
| 19 | g.11106623C= | CA2322768174 | LDLR | c.1011C= (p.Gly337=) c.753C= (p.Gly251=) c.1007C= c.314-769C= (n.314-769C=) c.630C= (p.Gly210=) c.372C= (p.Gly124=) n.268C= c.353C= n.903C= n.870C= | |
| 19 | g.11106623C>G | CA505484932 | LDLR | c.1011C>G (p.Gly337=) c.753C>G (p.Gly251=) c.1007C>G c.314-769C>G (n.314-769C>G) c.630C>G (p.Gly210=) c.372C>G (p.Gly124=) n.268C>G c.353C>G n.903C>G n.870C>G | |
| 19 | g.11106623C>T | CA505484934 | LDLR | c.1011C>T (p.Gly337=) c.753C>T (p.Gly251=) c.1007C>T c.314-769C>T (n.314-769C>T) c.630C>T (p.Gly210=) c.372C>T (p.Gly124=) n.268C>T c.353C>T n.903C>T n.870C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11106624A>C | CA404079773 | LDLR | c.1012A>C (p.Ser338Arg) c.754A>C (p.Ser252Arg) c.1008A>C c.314-768A>C (n.314-768A>C) c.631A>C (p.Ser211Arg) c.373A>C (p.Ser125Arg) n.269A>C c.354A>C n.904A>C n.871A>C | |
| 19 | g.11106624A>G | CA404079783 | LDLR | c.1012A>G (p.Ser338Gly) c.754A>G (p.Ser252Gly) c.1008A>G c.314-768A>G (n.314-768A>G) c.631A>G (p.Ser211Gly) c.373A>G (p.Ser125Gly) n.269A>G c.354A>G n.904A>G n.871A>G | |
| 19 | g.11106624A>T | CA404079768 | LDLR | c.1012A>T (p.Ser338Cys) c.754A>T (p.Ser252Cys) c.1008A>T c.314-768A>T (n.314-768A>T) c.631A>T (p.Ser211Cys) c.373A>T (p.Ser125Cys) n.269A>T c.354A>T n.904A>T n.871A>T | |
| 19 | g.11106625G>A | CA404079787 | LDLR | c.1013G>A (p.Ser338Asn) c.755G>A (p.Ser252Asn) c.1009G>A c.314-767G>A (n.314-767G>A) c.632G>A (p.Ser211Asn) c.374G>A (p.Ser125Asn) n.270G>A c.355G>A n.905G>A n.872G>A | |
| 19 | g.11106625G>C | CA404079791 | LDLR | c.1013G>C (p.Ser338Thr) c.755G>C (p.Ser252Thr) c.1009G>C c.314-767G>C (n.314-767G>C) c.632G>C (p.Ser211Thr) c.374G>C (p.Ser125Thr) n.270G>C c.355G>C n.905G>C n.872G>C | |
| 19 | g.11106625G>T | CA404079795 | LDLR | c.1013G>T (p.Ser338Ile) c.755G>T (p.Ser252Ile) c.1009G>T c.314-767G>T (n.314-767G>T) c.632G>T (p.Ser211Ile) c.374G>T (p.Ser125Ile) n.270G>T c.355G>T n.905G>T n.872G>T | |
| 19 | g.11106626C>A | CA029237 | LDLR | c.1014C>A (p.Ser338Arg) c.756C>A (p.Ser252Arg) c.1010C>A c.314-766C>A (n.314-766C>A) c.633C>A (p.Ser211Arg) c.375C>A (p.Ser125Arg) n.271C>A c.356C>A n.906C>A n.873C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11106626C= | CA2322768175 | LDLR | c.1014C= (p.Ser338=) c.756C= (p.Ser252=) c.1010C= c.314-766C= (n.314-766C=) c.633C= (p.Ser211=) c.375C= (p.Ser125=) n.271C= c.356C= n.906C= n.873C= | |
| 19 | g.11106626C>G | CA404079803 | LDLR | c.1014C>G (p.Ser338Arg) c.756C>G (p.Ser252Arg) c.1010C>G c.314-766C>G (n.314-766C>G) c.633C>G (p.Ser211Arg) c.375C>G (p.Ser125Arg) n.271C>G c.356C>G n.906C>G n.873C>G | |
| 19 | g.11106626C>T | CA505484937 | LDLR | c.1014C>T (p.Ser338=) c.756C>T (p.Ser252=) c.1010C>T c.314-766C>T (n.314-766C>T) c.633C>T (p.Ser211=) c.375C>T (p.Ser125=) n.271C>T c.356C>T n.906C>T n.873C>T | |
| 19 | g.11106627C>A | CA505484938 | LDLR | c.1015C>A (p.Arg339=) c.757C>A (p.Arg253=) c.1011C>A c.314-765C>A (n.314-765C>A) c.634C>A (p.Arg212=) c.376C>A (p.Arg126=) n.272C>A c.357C>A n.907C>A n.874C>A | |
| 19 | g.11106627C= | CA2322768176 | LDLR | c.1015C= (p.Arg339=) c.757C= (p.Arg253=) c.1011C= c.314-765C= (n.314-765C=) c.634C= (p.Arg212=) c.376C= (p.Arg126=) n.272C= c.357C= n.907C= n.874C= | |
| 19 | g.11106627C>G | CA404079806 | LDLR | c.1015C>G (p.Arg339Gly) c.757C>G (p.Arg253Gly) c.1011C>G c.314-765C>G (n.314-765C>G) c.634C>G (p.Arg212Gly) c.376C>G (p.Arg126Gly) n.272C>G c.357C>G n.907C>G n.874C>G | |
| 19 | g.11106627C>T | CA023757 | LDLR | c.1015C>T (p.Arg339Trp) c.757C>T (p.Arg253Trp) c.1011C>T c.314-765C>T (n.314-765C>T) c.634C>T (p.Arg212Trp) c.376C>T (p.Arg126Trp) n.272C>T c.357C>T n.907C>T n.874C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |