| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11106161_11107857del | CA2573050584 | LDLR | c.953-404_1198+343del c.695-404_940+343del c.949-404_1194+343del c.314-1231_436+343del c.572-404_817+343del c.314-404_559+343del c.295-404_540+343del n.845-404_1090+343del n.812-404_1057+343del | |
| 19 | g.11106209_11108573del | CA10585092 | LDLR | c.953-356_1198+1059del c.695-356_940+1059del c.949-356_1194+1059del c.314-1183_436+1059del c.572-356_817+1059del c.314-356_559+1059del c.295-356_540+1059del n.845-356_1090+1059del n.812-356_1057+1059del | ClinVar |
| 19 | g.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11106564_11107515del | CA658824389 | LDLR | c.953-1_1198+1del c.695-1_940+1del c.949-1_1194+1del c.314-828_436+1del c.572-1_817+1del c.314-1_559+1del n.209_456del c.295-1_540+1del n.845-1_1090+1del n.812-1_1057+1del | ClinVar |
| 19 | g.11107438_11107439delinsAT | CA2322768596 | LDLR | c.1122_1123delinsAT (p.Glu374=) c.864_865delinsAT (p.Glu288=) c.1118_1119delinsAT c.360_361delinsAT (p.Glu120=) c.741_742delinsAT (p.Glu247=) c.483_484delinsAT (p.Glu161=) n.379_380delinsAT c.464_465delinsAT n.1014_1015delinsAT n.981_982delinsAT | |
| 19 | g.11107439del | CA10585165 | LDLR | c.1123del (p.Cys375AlafsTer?) c.865del (p.Cys289AlafsTer?) c.1119del c.361del (p.Cys121AlafsTer?) c.742del (p.Cys248AlafsTer?) c.484del (p.Cys162AlafsTer?) n.380del c.465del n.1015del n.982del | ClinVar dbSNP |
| 19 | g.11107439T>A | CA404080775 | LDLR | c.1123T>A (p.Cys375Ser) c.865T>A (p.Cys289Ser) c.1119T>A c.361T>A (p.Cys121Ser) c.742T>A (p.Cys248Ser) c.484T>A (p.Cys162Ser) n.380T>A c.465T>A n.1015T>A n.982T>A | |
| 19 | g.11107439T>C | CA10585164 | LDLR | c.1123T>C (p.Cys375Arg) c.865T>C (p.Cys289Arg) c.1119T>C c.361T>C (p.Cys121Arg) c.742T>C (p.Cys248Arg) c.484T>C (p.Cys162Arg) n.380T>C c.465T>C n.1015T>C n.982T>C | ClinVar dbSNP |
| 19 | g.11107439T>G | CA404080780 | LDLR | c.1123T>G (p.Cys375Gly) c.865T>G (p.Cys289Gly) c.1119T>G c.361T>G (p.Cys121Gly) c.742T>G (p.Cys248Gly) c.484T>G (p.Cys162Gly) n.380T>G c.465T>G n.1015T>G n.982T>G | ClinVar dbSNP |
| 19 | g.11107439T= | CA2322768597 | LDLR | c.1123T= (p.Cys375=) c.865T= (p.Cys289=) c.1119T= c.361T= (p.Cys121=) c.742T= (p.Cys248=) c.484T= (p.Cys162=) n.380T= c.465T= n.1015T= n.982T= | |
| 19 | g.11107440G>A | CA404080788 | LDLR | c.1124G>A (p.Cys375Tyr) c.866G>A (p.Cys289Tyr) c.1120G>A c.362G>A (p.Cys121Tyr) c.743G>A (p.Cys248Tyr) c.485G>A (p.Cys162Tyr) n.381G>A c.466G>A n.1016G>A n.983G>A | ClinVar dbSNP |
| 19 | g.11107440G>C | CA404080791 | LDLR | c.1124G>C (p.Cys375Ser) c.866G>C (p.Cys289Ser) c.1120G>C c.362G>C (p.Cys121Ser) c.743G>C (p.Cys248Ser) c.485G>C (p.Cys162Ser) n.381G>C c.466G>C n.1016G>C n.983G>C | gnomAD v4 |
| 19 | g.11107440G= | CA2322768598 | LDLR | c.1124G= (p.Cys375=) c.866G= (p.Cys289=) c.1120G= c.362G= (p.Cys121=) c.743G= (p.Cys248=) c.485G= (p.Cys162=) n.381G= c.466G= n.1016G= n.983G= | |
| 19 | g.11107440G>T | CA404080793 | LDLR | c.1124G>T (p.Cys375Phe) c.866G>T (p.Cys289Phe) c.1120G>T c.362G>T (p.Cys121Phe) c.743G>T (p.Cys248Phe) c.485G>T (p.Cys162Phe) n.381G>T c.466G>T n.1016G>T n.983G>T | |
| 19 | g.11107441C>A | CA404080801 | LDLR | c.1125C>A (p.Cys375Ter) c.867C>A (p.Cys289Ter) c.1121C>A c.363C>A (p.Cys121Ter) c.744C>A (p.Cys248Ter) c.486C>A (p.Cys162Ter) n.382C>A c.467C>A n.1017C>A n.984C>A | |
| 19 | g.11107441C>G | CA404080804 | LDLR | c.1125C>G (p.Cys375Trp) c.867C>G (p.Cys289Trp) c.1121C>G c.363C>G (p.Cys121Trp) c.744C>G (p.Cys248Trp) c.486C>G (p.Cys162Trp) n.382C>G c.467C>G n.1017C>G n.984C>G | |
| 19 | g.11107441C>T | CA505485075 | LDLR | c.1125C>T (p.Cys375=) c.867C>T (p.Cys289=) c.1121C>T c.363C>T (p.Cys121=) c.744C>T (p.Cys248=) c.486C>T (p.Cys162=) n.382C>T c.467C>T n.1017C>T n.984C>T | ClinVar gnomAD v4 |
| 19 | g.11107443_11107445dup | CA10585167 | LDLR | c.1127_1129dup (p.Ile376_Thr377insIle) c.869_871dup (p.Ile290_Thr291insIle) c.1123_1125dup c.365_367dup (p.Ile122_Thr123insIle) c.746_748dup (p.Ile249_Thr250insIle) c.488_490dup (p.Ile163_Thr164insIle) n.384_386dup c.469_471dup n.1019_1021dup n.986_988dup | ClinVar dbSNP |
| 19 | g.11107442A>C | CA404080808 | LDLR | c.1126A>C (p.Ile376Leu) c.868A>C (p.Ile290Leu) c.1122A>C c.364A>C (p.Ile122Leu) c.745A>C (p.Ile249Leu) c.487A>C (p.Ile163Leu) n.383A>C c.468A>C n.1018A>C n.985A>C | |
| 19 | g.11107442A>G | CA404080813 | LDLR | c.1126A>G (p.Ile376Val) c.868A>G (p.Ile290Val) c.1122A>G c.364A>G (p.Ile122Val) c.745A>G (p.Ile249Val) c.487A>G (p.Ile163Val) n.383A>G c.468A>G n.1018A>G n.985A>G | |
| 19 | g.11107442A>T | CA404080816 | LDLR | c.1126A>T (p.Ile376Phe) c.868A>T (p.Ile290Phe) c.1122A>T c.364A>T (p.Ile122Phe) c.745A>T (p.Ile249Phe) c.487A>T (p.Ile163Phe) n.383A>T c.468A>T n.1018A>T n.985A>T | |
| 19 | g.11107443T>A | CA404080819 | LDLR | c.1127T>A (p.Ile376Asn) c.869T>A (p.Ile290Asn) c.1123T>A c.365T>A (p.Ile122Asn) c.746T>A (p.Ile249Asn) c.488T>A (p.Ile163Asn) n.384T>A c.469T>A n.1019T>A n.986T>A | |
| 19 | g.11107443T>C | CA404080822 | LDLR | c.1127T>C (p.Ile376Thr) c.869T>C (p.Ile290Thr) c.1123T>C c.365T>C (p.Ile122Thr) c.746T>C (p.Ile249Thr) c.488T>C (p.Ile163Thr) n.384T>C c.469T>C n.1019T>C n.986T>C | |
| 19 | g.11107443T>G | CA10585166 | LDLR | c.1127T>G (p.Ile376Ser) c.869T>G (p.Ile290Ser) c.1123T>G c.365T>G (p.Ile122Ser) c.746T>G (p.Ile249Ser) c.488T>G (p.Ile163Ser) n.384T>G c.469T>G n.1019T>G n.986T>G | ClinVar dbSNP |
| 19 | g.11107443T= | CA2322768599 | LDLR | c.1127T= (p.Ile376=) c.869T= (p.Ile290=) c.1123T= c.365T= (p.Ile122=) c.746T= (p.Ile249=) c.488T= (p.Ile163=) n.384T= c.469T= n.1019T= n.986T= | |
| 19 | g.11107444C>A | CA505485077 | LDLR | c.1128C>A (p.Ile376=) c.870C>A (p.Ile290=) c.1124C>A c.366C>A (p.Ile122=) c.747C>A (p.Ile249=) c.489C>A (p.Ile163=) n.385C>A c.470C>A n.1020C>A n.987C>A | |
| 19 | g.11107444C>G | CA404080827 | LDLR | c.1128C>G (p.Ile376Met) c.870C>G (p.Ile290Met) c.1124C>G c.366C>G (p.Ile122Met) c.747C>G (p.Ile249Met) c.489C>G (p.Ile163Met) n.385C>G c.470C>G n.1020C>G n.987C>G | |
| 19 | g.11107444C>T | CA505485076 | LDLR | c.1128C>T (p.Ile376=) c.870C>T (p.Ile290=) c.1124C>T c.366C>T (p.Ile122=) c.747C>T (p.Ile249=) c.489C>T (p.Ile163=) n.385C>T c.470C>T n.1020C>T n.987C>T | |
| 19 | g.11107445A= | CA2322768600 | LDLR | c.1129A= (p.Thr377=) c.871A= (p.Thr291=) c.1125A= c.367A= (p.Thr123=) c.748A= (p.Thr250=) c.490A= (p.Thr164=) n.386A= c.471A= n.1021A= n.988A= | |
| 19 | g.11107445A>C | CA029979 | LDLR | c.1129A>C (p.Thr377Pro) c.871A>C (p.Thr291Pro) c.1125A>C c.367A>C (p.Thr123Pro) c.748A>C (p.Thr250Pro) c.490A>C (p.Thr164Pro) n.386A>C c.471A>C n.1021A>C n.988A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11107445A>G | CA404080832 | LDLR | c.1129A>G (p.Thr377Ala) c.871A>G (p.Thr291Ala) c.1125A>G c.367A>G (p.Thr123Ala) c.748A>G (p.Thr250Ala) c.490A>G (p.Thr164Ala) n.386A>G c.471A>G n.1021A>G n.988A>G | |
| 19 | g.11107445A>T | CA404080829 | LDLR | c.1129A>T (p.Thr377Ser) c.871A>T (p.Thr291Ser) c.1125A>T c.367A>T (p.Thr123Ser) c.748A>T (p.Thr250Ser) c.490A>T (p.Thr164Ser) n.386A>T c.471A>T n.1021A>T n.988A>T | |
| 19 | g.11107445_11107446delinsAC | CA2322768601 | LDLR | c.1129_1130delinsAC (p.Thr377=) c.871_872delinsAC (p.Thr291=) c.1125_1126delinsAC c.367_368delinsAC (p.Thr123=) c.748_749delinsAC (p.Thr250=) c.490_491delinsAC (p.Thr164=) n.386_387delinsAC c.471_472delinsAC n.1021_1022delinsAC n.988_989delinsAC | |
| 19 | g.11107446C>A | CA404080840 | LDLR | c.1130C>A (p.Thr377Asn) c.872C>A (p.Thr291Asn) c.1126C>A c.368C>A (p.Thr123Asn) c.749C>A (p.Thr250Asn) c.491C>A (p.Thr164Asn) n.387C>A c.472C>A n.1022C>A n.989C>A | |
| 19 | g.11107446C>G | CA404080844 | LDLR | c.1130C>G (p.Thr377Ser) c.872C>G (p.Thr291Ser) c.1126C>G c.368C>G (p.Thr123Ser) c.749C>G (p.Thr250Ser) c.491C>G (p.Thr164Ser) n.387C>G c.472C>G n.1022C>G n.989C>G | |
| 19 | g.11107446C>T | CA404080847 | LDLR | c.1130C>T (p.Thr377Ile) c.872C>T (p.Thr291Ile) c.1126C>T c.368C>T (p.Thr123Ile) c.749C>T (p.Thr250Ile) c.491C>T (p.Thr164Ile) n.387C>T c.472C>T n.1022C>T n.989C>T | |
| 19 | g.11107448del | CA10585168 | LDLR | c.1132del (p.Leu378TrpfsTer?) c.874del (p.Leu292TrpfsTer?) c.1128del c.370del (p.Leu124TrpfsTer?) c.751del (p.Leu251TrpfsTer?) c.493del (p.Leu165TrpfsTer?) n.389del c.474del n.1024del n.991del | ClinVar dbSNP |
| 19 | g.11107447C>A | CA505485078 | LDLR | c.1131C>A (p.Thr377=) c.873C>A (p.Thr291=) c.1127C>A c.369C>A (p.Thr123=) c.750C>A (p.Thr250=) c.492C>A (p.Thr164=) n.388C>A c.473C>A n.1023C>A n.990C>A | ClinVar gnomAD v4 |
| 19 | g.11107447C>G | CA505485079 | LDLR | c.1131C>G (p.Thr377=) c.873C>G (p.Thr291=) c.1127C>G c.369C>G (p.Thr123=) c.750C>G (p.Thr250=) c.492C>G (p.Thr164=) n.388C>G c.473C>G n.1023C>G n.990C>G | |
| 19 | g.11107447C>T | CA505485080 | LDLR | c.1131C>T (p.Thr377=) c.873C>T (p.Thr291=) c.1127C>T c.369C>T (p.Thr123=) c.750C>T (p.Thr250=) c.492C>T (p.Thr164=) n.388C>T c.473C>T n.1023C>T n.990C>T | ClinVar |