| 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 |