| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.11108359_11112170del | CA404081661 | LDLR | c.1198+845_1444+531del c.940+845_1186+531del c.940+845_1066+531del c.1194+845_1440+531del c.436+845_682+531del c.817+845_1063+531del c.559+845_805+531del c.540+845_666+531del n.1090+845_1336+531del n.1057+845_1303+531del | ClinVar |
| 19 | g.11110765_11111517del | CA404082893 | LDLR | c.1312_1322del c.1054_1064del c.941-749_944del c.1308_1318del c.550_560del c.931_941del c.673_683del n.53_63del c.541-749_544del n.1204_1214del n.1171_1181del | ClinVar |
| 19 | g.11111514_11116998del | CA10585283 | LDLR | c.1319_2103del c.1061_1705+786del c.941_1725del c.1061_1845del c.1315_2099del c.557_1341del c.938_1722del c.680_1464del n.1211_1855+786del n.1178_1962del n.1178_1822+786del | |
| 19 | g.11111514A= | CA2322770690 | LDLR | c.1319A= (p.Asp440=) c.1061A= (p.Asp354=) c.941A= (p.Asp314=) c.1315A= c.557A= (p.Asp186=) c.938A= (p.Asp313=) c.680A= (p.Asp227=) n.60A= c.541A= n.1211A= n.1178A= | |
| 19 | g.11111514A>C | CA10585281 | LDLR | c.1319A>C (p.Asp440Ala) c.1061A>C (p.Asp354Ala) c.941A>C (p.Asp314Ala) c.1315A>C c.557A>C (p.Asp186Ala) c.938A>C (p.Asp313Ala) c.680A>C (p.Asp227Ala) n.60A>C c.541A>C n.1211A>C n.1178A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111514A>G | CA031858 | LDLR | c.1319A>G (p.Asp440Gly) c.1061A>G (p.Asp354Gly) c.941A>G (p.Asp314Gly) c.1315A>G c.557A>G (p.Asp186Gly) c.938A>G (p.Asp313Gly) c.680A>G (p.Asp227Gly) n.60A>G c.541A>G n.1211A>G n.1178A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111514A>T | CA10585282 | LDLR | c.1319A>T (p.Asp440Val) c.1061A>T (p.Asp354Val) c.941A>T (p.Asp314Val) c.1315A>T c.557A>T (p.Asp186Val) c.938A>T (p.Asp313Val) c.680A>T (p.Asp227Val) n.60A>T c.541A>T n.1211A>T n.1178A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111515T>A | CA404083060 | LDLR | c.1320T>A (p.Asp440Glu) c.1062T>A (p.Asp354Glu) c.942T>A (p.Asp314Glu) c.1316T>A c.558T>A (p.Asp186Glu) c.939T>A (p.Asp313Glu) c.681T>A (p.Asp227Glu) n.61T>A c.542T>A n.1212T>A n.1179T>A | |
| 19 | g.11111515T>C | CA505485521 | LDLR | c.1320T>C (p.Asp440=) c.1062T>C (p.Asp354=) c.942T>C (p.Asp314=) c.1316T>C c.558T>C (p.Asp186=) c.939T>C (p.Asp313=) c.681T>C (p.Asp227=) n.61T>C c.542T>C n.1212T>C n.1179T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111515T>G | CA404083063 | LDLR | c.1320T>G (p.Asp440Glu) c.1062T>G (p.Asp354Glu) c.942T>G (p.Asp314Glu) c.1316T>G c.558T>G (p.Asp186Glu) c.939T>G (p.Asp313Glu) c.681T>G (p.Asp227Glu) n.61T>G c.542T>G n.1212T>G n.1179T>G | |
| 19 | g.11111515dup | CA10585284 | LDLR | c.1320dup (p.Ile441TyrfsTer3) c.1062dup (p.Ile355TyrfsTer3) c.942dup (p.Ile315TyrfsTer3) c.1316dup c.558dup (p.Ile187TyrfsTer3) c.939dup (p.Ile314TyrfsTer3) c.681dup (p.Ile228TyrfsTer3) n.61dup c.542dup n.1212dup n.1179dup | ClinVar dbSNP |
| 19 | g.11111516A= | CA2322770691 | LDLR | c.1321A= (p.Ile441=) c.1063A= (p.Ile355=) c.943A= (p.Ile315=) c.1317A= c.559A= (p.Ile187=) c.940A= (p.Ile314=) c.682A= (p.Ile228=) n.62A= c.543A= n.1213A= n.1180A= | |
| 19 | g.11111516A>C | CA404083065 | LDLR | c.1321A>C (p.Ile441Leu) c.1063A>C (p.Ile355Leu) c.943A>C (p.Ile315Leu) c.1317A>C c.559A>C (p.Ile187Leu) c.940A>C (p.Ile314Leu) c.682A>C (p.Ile228Leu) n.62A>C c.543A>C n.1213A>C n.1180A>C | |
| 19 | g.11111516A>G | CA10585285 | LDLR | c.1321A>G (p.Ile441Val) c.1063A>G (p.Ile355Val) c.943A>G (p.Ile315Val) c.1317A>G c.559A>G (p.Ile187Val) c.940A>G (p.Ile314Val) c.682A>G (p.Ile228Val) n.62A>G c.543A>G n.1213A>G n.1180A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111516A>T | CA404083069 | LDLR | c.1321A>T (p.Ile441Phe) c.1063A>T (p.Ile355Phe) c.943A>T (p.Ile315Phe) c.1317A>T c.559A>T (p.Ile187Phe) c.940A>T (p.Ile314Phe) c.682A>T (p.Ile228Phe) n.62A>T c.543A>T n.1213A>T n.1180A>T | |
| 19 | g.11111517T>A | CA404083086 | LDLR | c.1322T>A (p.Ile441Asn) c.1064T>A (p.Ile355Asn) c.944T>A (p.Ile315Asn) c.1318T>A c.560T>A (p.Ile187Asn) c.941T>A (p.Ile314Asn) c.683T>A (p.Ile228Asn) n.63T>A c.544T>A n.1214T>A n.1181T>A | |
| 19 | g.11111517T>C | CA404083089 | LDLR | c.1322T>C (p.Ile441Thr) c.1064T>C (p.Ile355Thr) c.944T>C (p.Ile315Thr) c.1318T>C c.560T>C (p.Ile187Thr) c.941T>C (p.Ile314Thr) c.683T>C (p.Ile228Thr) n.63T>C c.544T>C n.1214T>C n.1181T>C | gnomAD v4 |
| 19 | g.11111517T>G | CA404083092 | LDLR | c.1322T>G (p.Ile441Ser) c.1064T>G (p.Ile355Ser) c.944T>G (p.Ile315Ser) c.1318T>G c.560T>G (p.Ile187Ser) c.941T>G (p.Ile314Ser) c.683T>G (p.Ile228Ser) n.63T>G c.544T>G n.1214T>G n.1181T>G | |
| 19 | g.11111517dup | CA645509275 | LDLR | c.1322dup (p.Asp442ArgfsTer2) c.1064dup (p.Asp356ArgfsTer2) c.944dup (p.Asp316ArgfsTer2) c.1318dup c.560dup (p.Asp188ArgfsTer2) c.941dup (p.Asp315ArgfsTer2) c.683dup (p.Asp229ArgfsTer2) n.63dup c.544dup n.1214dup n.1181dup | ClinVar dbSNP |
| 19 | g.11111518C>A | CA505485523 | LDLR | c.1323C>A (p.Ile441=) c.1065C>A (p.Ile355=) c.945C>A (p.Ile315=) c.1319C>A c.561C>A (p.Ile187=) c.942C>A (p.Ile314=) c.684C>A (p.Ile228=) n.64C>A c.545C>A n.1215C>A n.1182C>A | |
| 19 | g.11111518C= | CA2322770692 | LDLR | c.1323C= (p.Ile441=) c.1065C= (p.Ile355=) c.945C= (p.Ile315=) c.1319C= c.561C= (p.Ile187=) c.942C= (p.Ile314=) c.684C= (p.Ile228=) n.64C= c.545C= n.1215C= n.1182C= | |
| 19 | g.11111518C>G | CA16609809 | LDLR | c.1323C>G (p.Ile441Met) c.1065C>G (p.Ile355Met) c.945C>G (p.Ile315Met) c.1319C>G c.561C>G (p.Ile187Met) c.942C>G (p.Ile314Met) c.684C>G (p.Ile228Met) n.64C>G c.545C>G n.1215C>G n.1182C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11111518C>T | CA505485524 | LDLR | c.1323C>T (p.Ile441=) c.1065C>T (p.Ile355=) c.945C>T (p.Ile315=) c.1319C>T c.561C>T (p.Ile187=) c.942C>T (p.Ile314=) c.684C>T (p.Ile228=) n.64C>T c.545C>T n.1215C>T n.1182C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11111520_11111521insAGAGTGTCAGGATCCCGA | CA2580096382 | LDLR | c.1325_1326insAGAGTGTCAGGATCCCGA (p.Ile441_Asp442insGluGluCysGlnAspPro) c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro) c.947_948insAGAGTGTCAGGATCCCGA (p.Ile315_Asp316insGluGluCysGlnAspPro) c.1321_1322insAGAGTGTCAGGATCCCGA c.563_564insAGAGTGTCAGGATCCCGA (p.Ile187_Asp188insGluGluCysGlnAspPro) c.944_945insAGAGTGTCAGGATCCCGA (p.Ile314_Asp315insGluGluCysGlnAspPro) c.686_687insAGAGTGTCAGGATCCCGA (p.Ile228_Asp229insGluGluCysGlnAspPro) n.66_67insAGAGTGTCAGGATCCCGA c.547_548insAGAGTGTCAGGATCCCGA n.1217_1218insAGAGTGTCAGGATCCCGA n.1184_1185insAGAGTGTCAGGATCCCGA | ClinVar |
| 19 | g.11111519G>A | CA031880 | LDLR | c.1324G>A (p.Asp442Asn) c.1066G>A (p.Asp356Asn) c.946G>A (p.Asp316Asn) c.1320G>A c.562G>A (p.Asp188Asn) c.943G>A (p.Asp315Asn) c.685G>A (p.Asp229Asn) n.65G>A c.546G>A n.1216G>A n.1183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111519G>C | CA10585286 | LDLR | c.1324G>C (p.Asp442His) c.1066G>C (p.Asp356His) c.946G>C (p.Asp316His) c.1320G>C c.562G>C (p.Asp188His) c.943G>C (p.Asp315His) c.685G>C (p.Asp229His) n.65G>C c.546G>C n.1216G>C n.1183G>C | ClinVar dbSNP |
| 19 | g.11111519G= | CA2322770693 | LDLR | c.1324G= (p.Asp442=) c.1066G= (p.Asp356=) c.946G= (p.Asp316=) c.1320G= c.562G= (p.Asp188=) c.943G= (p.Asp315=) c.685G= (p.Asp229=) n.65G= c.546G= n.1216G= n.1183G= | |
| 19 | g.11111519G>T | CA10576297 | LDLR | c.1324G>T (p.Asp442Tyr) c.1066G>T (p.Asp356Tyr) c.946G>T (p.Asp316Tyr) c.1320G>T c.562G>T (p.Asp188Tyr) c.943G>T (p.Asp315Tyr) c.685G>T (p.Asp229Tyr) n.65G>T c.546G>T n.1216G>T n.1183G>T | ClinVar dbSNP |
| 19 | g.11111519_11111520delinsGA | CA2322770694 | LDLR | c.1324_1325delinsGA (p.Asp442=) c.1066_1067delinsGA (p.Asp356=) c.946_947delinsGA (p.Asp316=) c.1320_1321delinsGA c.562_563delinsGA (p.Asp188=) c.943_944delinsGA (p.Asp315=) c.685_686delinsGA (p.Asp229=) n.65_66delinsGA c.546_547delinsGA n.1216_1217delinsGA n.1183_1184delinsGA | |
| 19 | g.11111520del | CA10585288 | LDLR | c.1325del (p.Asp442ValfsTer14) c.1067del (p.Asp356ValfsTer14) c.947del (p.Asp316ValfsTer14) c.1321del c.563del (p.Asp188ValfsTer14) c.944del (p.Asp315ValfsTer14) c.686del (p.Asp229ValfsTer14) n.66del c.547del n.1217del n.1184del | ClinVar dbSNP |
| 19 | g.11111520A= | CA2322770695 | LDLR | c.1325A= (p.Asp442=) c.1067A= (p.Asp356=) c.947A= (p.Asp316=) c.1321A= c.563A= (p.Asp188=) c.944A= (p.Asp315=) c.686A= (p.Asp229=) n.66A= c.547A= n.1217A= n.1184A= | |
| 19 | g.11111520A>C | CA10585287 | LDLR | c.1325A>C (p.Asp442Ala) c.1067A>C (p.Asp356Ala) c.947A>C (p.Asp316Ala) c.1321A>C c.563A>C (p.Asp188Ala) c.944A>C (p.Asp315Ala) c.686A>C (p.Asp229Ala) n.66A>C c.547A>C n.1217A>C n.1184A>C | ClinVar dbSNP |
| 19 | g.11111520A>G | CA404083109 | LDLR | c.1325A>G (p.Asp442Gly) c.1067A>G (p.Asp356Gly) c.947A>G (p.Asp316Gly) c.1321A>G c.563A>G (p.Asp188Gly) c.944A>G (p.Asp315Gly) c.686A>G (p.Asp229Gly) n.66A>G c.547A>G n.1217A>G n.1184A>G | |
| 19 | g.11111520A>T | CA404083112 | LDLR | c.1325A>T (p.Asp442Val) c.1067A>T (p.Asp356Val) c.947A>T (p.Asp316Val) c.1321A>T c.563A>T (p.Asp188Val) c.944A>T (p.Asp315Val) c.686A>T (p.Asp229Val) n.66A>T c.547A>T n.1217A>T n.1184A>T | ClinVar dbSNP |
| 19 | g.11111520_11111521delinsAT | CA2322770696 | LDLR | c.1325_1326delinsAT (p.Asp442=) c.1067_1068delinsAT (p.Asp356=) c.947_948delinsAT (p.Asp316=) c.1321_1322delinsAT c.563_564delinsAT (p.Asp188=) c.944_945delinsAT (p.Asp315=) c.686_687delinsAT (p.Asp229=) n.66_67delinsAT c.547_548delinsAT n.1217_1218delinsAT n.1184_1185delinsAT | |
| 19 | g.11111520_11111521insAGAG | CA2582474403 | LDLR | c.1325_1326insAGAG (p.Asp442GlufsTer3) c.1067_1068insAGAG (p.Asp356GlufsTer3) c.947_948insAGAG (p.Asp316GlufsTer3) c.1321_1322insAGAG c.563_564insAGAG (p.Asp188GlufsTer3) c.944_945insAGAG (p.Asp315GlufsTer3) c.686_687insAGAG (p.Asp229GlufsTer3) n.66_67insAGAG c.547_548insAGAG n.1217_1218insAGAG n.1184_1185insAGAG | gnomAD v4 |
| 19 | g.11111521T>A | CA404083119 | LDLR | c.1326T>A (p.Asp442Glu) c.1068T>A (p.Asp356Glu) c.948T>A (p.Asp316Glu) c.1322T>A c.564T>A (p.Asp188Glu) c.945T>A (p.Asp315Glu) c.687T>A (p.Asp229Glu) n.67T>A c.548T>A n.1218T>A n.1185T>A | |
| 19 | g.11111521T>C | CA505485527 | LDLR | c.1326T>C (p.Asp442=) c.1068T>C (p.Asp356=) c.948T>C (p.Asp316=) c.1322T>C c.564T>C (p.Asp188=) c.945T>C (p.Asp315=) c.687T>C (p.Asp229=) n.67T>C c.548T>C n.1218T>C n.1185T>C | ClinVar |
| 19 | g.11111521T>G | CA404083122 | LDLR | c.1326T>G (p.Asp442Glu) c.1068T>G (p.Asp356Glu) c.948T>G (p.Asp316Glu) c.1322T>G c.564T>G (p.Asp188Glu) c.945T>G (p.Asp315Glu) c.687T>G (p.Asp229Glu) n.67T>G c.548T>G n.1218T>G n.1185T>G | |
| 19 | g.11111521T= | CA2322770697 | LDLR | c.1326T= (p.Asp442=) c.1068T= (p.Asp356=) c.948T= (p.Asp316=) c.1322T= c.564T= (p.Asp188=) c.945T= (p.Asp315=) c.687T= (p.Asp229=) n.67T= c.548T= n.1218T= n.1185T= | |
| 19 | g.11111521delinsAGAGTGTCAGGATCCCGAC | CA10585289 | LDLR | c.1326delinsAGAGTGTCAGGATCCCGAC (p.Ile441_Asp442insGluGluCysGlnAspPro) c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro) c.948delinsAGAGTGTCAGGATCCCGAC (p.Ile315_Asp316insGluGluCysGlnAspPro) c.1322delinsAGAGTGTCAGGATCCCGAC c.564delinsAGAGTGTCAGGATCCCGAC (p.Ile187_Asp188insGluGluCysGlnAspPro) c.945delinsAGAGTGTCAGGATCCCGAC (p.Ile314_Asp315insGluGluCysGlnAspPro) c.687delinsAGAGTGTCAGGATCCCGAC (p.Ile228_Asp229insGluGluCysGlnAspPro) n.67delinsAGAGTGTCAGGATCCCGAC c.548delinsAGAGTGTCAGGATCCCGAC n.1218delinsAGAGTGTCAGGATCCCGAC n.1185delinsAGAGTGTCAGGATCCCGAC | ClinVar dbSNP |
| 19 | g.11111523_11111526dup | CA10585292 | LDLR | c.1328_1331dup (p.Cys444Ter) c.1070_1073dup (p.Cys358Ter) c.950_953dup (p.Cys318Ter) c.1324_1327dup c.566_569dup (p.Cys190Ter) c.947_950dup (p.Cys317Ter) c.689_692dup (p.Cys231Ter) n.69_72dup c.550_553dup n.1220_1223dup n.1187_1190dup | ClinVar dbSNP |
| 19 | g.11111522G>A | CA10585290 | LDLR | c.1327G>A (p.Glu443Lys) c.1069G>A (p.Glu357Lys) c.949G>A (p.Glu317Lys) c.1323G>A c.565G>A (p.Glu189Lys) c.946G>A (p.Glu316Lys) c.688G>A (p.Glu230Lys) n.68G>A c.549G>A n.1219G>A n.1186G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11111522G>C | CA404083133 | LDLR | c.1327G>C (p.Glu443Gln) c.1069G>C (p.Glu357Gln) c.949G>C (p.Glu317Gln) c.1323G>C c.565G>C (p.Glu189Gln) c.946G>C (p.Glu316Gln) c.688G>C (p.Glu230Gln) n.68G>C c.549G>C n.1219G>C n.1186G>C | ClinVar dbSNP |
| 19 | g.11111522G= | CA2322770699 | LDLR | c.1327G= (p.Glu443=) c.1069G= (p.Glu357=) c.949G= (p.Glu317=) c.1323G= c.565G= (p.Glu189=) c.946G= (p.Glu316=) c.688G= (p.Glu230=) n.68G= c.549G= n.1219G= n.1186G= | |
| 19 | g.11111522G>T | CA404083136 | LDLR | c.1327G>T (p.Glu443Ter) c.1069G>T (p.Glu357Ter) c.949G>T (p.Glu317Ter) c.1323G>T c.565G>T (p.Glu189Ter) c.946G>T (p.Glu316Ter) c.688G>T (p.Glu230Ter) n.68G>T c.549G>T n.1219G>T n.1186G>T |