| 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.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 |