| 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.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.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 | |
| 19 | g.11111522_11111523insTCAGGATCCCGACG | CA2582474404 | LDLR | c.1327_1328insTCAGGATCCCGACG (p.Glu443ValfsTer18) c.1069_1070insTCAGGATCCCGACG (p.Glu357ValfsTer18) c.949_950insTCAGGATCCCGACG (p.Glu317ValfsTer18) c.1323_1324insTCAGGATCCCGACG c.565_566insTCAGGATCCCGACG (p.Glu189ValfsTer18) c.946_947insTCAGGATCCCGACG (p.Glu316ValfsTer18) c.688_689insTCAGGATCCCGACG (p.Glu230ValfsTer18) n.68_69insTCAGGATCCCGACG c.549_550insTCAGGATCCCGACG n.1219_1220insTCAGGATCCCGACG n.1186_1187insTCAGGATCCCGACG | gnomAD v4 |
| 19 | g.11111522_11111523delinsGA | CA2322770698 | LDLR | c.1327_1328delinsGA (p.Glu443=) c.1069_1070delinsGA (p.Glu357=) c.949_950delinsGA (p.Glu317=) c.1323_1324delinsGA c.565_566delinsGA (p.Glu189=) c.946_947delinsGA (p.Glu316=) c.688_689delinsGA (p.Glu230=) n.68_69delinsGA c.549_550delinsGA n.1219_1220delinsGA n.1186_1187delinsGA | |
| 19 | g.11111523_11111524dup | CA2499225316 | LDLR | c.1328_1329dup (p.Cys444SerfsTer13) c.1070_1071dup (p.Cys358SerfsTer13) c.950_951dup (p.Cys318SerfsTer13) c.1324_1325dup c.566_567dup (p.Cys190SerfsTer13) c.947_948dup (p.Cys317SerfsTer13) c.689_690dup (p.Cys231SerfsTer13) n.69_70dup c.550_551dup n.1220_1221dup n.1187_1188dup | ClinVar dbSNP |
| 19 | g.11111522_11111539dup | CA10585291 | LDLR | c.1327_1344dup (p.Asp448_Thr449insGluCysGlnAspProAsp) c.1069_1086dup (p.Asp362_Thr363insGluCysGlnAspProAsp) c.949_966dup (p.Asp322_Thr323insGluCysGlnAspProAsp) c.1323_1340dup c.565_582dup (p.Asp194_Thr195insGluCysGlnAspProAsp) c.946_963dup (p.Asp321_Thr322insGluCysGlnAspProAsp) c.688_705dup (p.Asp235_Thr236insGluCysGlnAspProAsp) n.68_85dup c.549_566dup n.1219_1236dup n.1186_1203dup | ClinVar dbSNP |
| 19 | g.11111522_11111540dup | CA2695238674 | LDLR | c.1327_1345dup (p.Thr449ArgfsTer24) c.1069_1087dup (p.Thr363ArgfsTer24) c.949_967dup (p.Thr323ArgfsTer24) c.1323_1341dup c.565_583dup (p.Thr195ArgfsTer24) c.946_964dup (p.Thr322ArgfsTer24) c.688_706dup (p.Thr236ArgfsTer24) n.68_86dup c.549_567dup n.1219_1237dup n.1186_1204dup | |
| 19 | g.11111523del | CA645509276 | LDLR | c.1328del (p.Glu443GlyfsTer13) c.1070del (p.Glu357GlyfsTer13) c.950del (p.Glu317GlyfsTer13) c.1324del c.566del (p.Glu189GlyfsTer13) c.947del (p.Glu316GlyfsTer13) c.689del (p.Glu230GlyfsTer13) n.69del c.550del n.1220del n.1187del | ClinVar dbSNP |
| 19 | g.11111523A= | CA2322770700 | LDLR | c.1328A= (p.Glu443=) c.1070A= (p.Glu357=) c.950A= (p.Glu317=) c.1324A= c.566A= (p.Glu189=) c.947A= (p.Glu316=) c.689A= (p.Glu230=) n.69A= c.550A= n.1220A= n.1187A= | |
| 19 | g.11111523A>C | CA404083143 | LDLR | c.1328A>C (p.Glu443Ala) c.1070A>C (p.Glu357Ala) c.950A>C (p.Glu317Ala) c.1324A>C c.566A>C (p.Glu189Ala) c.947A>C (p.Glu316Ala) c.689A>C (p.Glu230Ala) n.69A>C c.550A>C n.1220A>C n.1187A>C | |
| 19 | g.11111523A>G | CA031903 | LDLR | c.1328A>G (p.Glu443Gly) c.1070A>G (p.Glu357Gly) c.950A>G (p.Glu317Gly) c.1324A>G c.566A>G (p.Glu189Gly) c.947A>G (p.Glu316Gly) c.689A>G (p.Glu230Gly) n.69A>G c.550A>G n.1220A>G n.1187A>G | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.11111523A>T | CA404083139 | LDLR | c.1328A>T (p.Glu443Val) c.1070A>T (p.Glu357Val) c.950A>T (p.Glu317Val) c.1324A>T c.566A>T (p.Glu189Val) c.947A>T (p.Glu316Val) c.689A>T (p.Glu230Val) n.69A>T c.550A>T n.1220A>T n.1187A>T | ClinVar |
| 19 | g.11111524G>A | CA505485529 | LDLR | c.1329G>A (p.Glu443=) c.1071G>A (p.Glu357=) c.951G>A (p.Glu317=) c.1325G>A c.567G>A (p.Glu189=) c.948G>A (p.Glu316=) c.690G>A (p.Glu230=) n.70G>A c.551G>A n.1221G>A n.1188G>A | dbSNP |
| 19 | g.11111524G>C | CA404083145 | LDLR | c.1329G>C (p.Glu443Asp) c.1071G>C (p.Glu357Asp) c.951G>C (p.Glu317Asp) c.1325G>C c.567G>C (p.Glu189Asp) c.948G>C (p.Glu316Asp) c.690G>C (p.Glu230Asp) n.70G>C c.551G>C n.1221G>C n.1188G>C | |
| 19 | g.11111524G= | CA2322770701 | LDLR | c.1329G= (p.Glu443=) c.1071G= (p.Glu357=) c.951G= (p.Glu317=) c.1325G= c.567G= (p.Glu189=) c.948G= (p.Glu316=) c.690G= (p.Glu230=) n.70G= c.551G= n.1221G= n.1188G= | |
| 19 | g.11111524G>T | CA404083147 | LDLR | c.1329G>T (p.Glu443Asp) c.1071G>T (p.Glu357Asp) c.951G>T (p.Glu317Asp) c.1325G>T c.567G>T (p.Glu189Asp) c.948G>T (p.Glu316Asp) c.690G>T (p.Glu230Asp) n.70G>T c.551G>T n.1221G>T n.1188G>T | |
| 19 | g.11111525T>A | CA404083149 | LDLR | c.1330T>A (p.Cys444Ser) c.1072T>A (p.Cys358Ser) c.952T>A (p.Cys318Ser) c.1326T>A c.568T>A (p.Cys190Ser) c.949T>A (p.Cys317Ser) c.691T>A (p.Cys231Ser) n.71T>A c.552T>A n.1222T>A n.1189T>A | |
| 19 | g.11111525T>C | CA10585293 | LDLR | c.1330T>C (p.Cys444Arg) c.1072T>C (p.Cys358Arg) c.952T>C (p.Cys318Arg) c.1326T>C c.568T>C (p.Cys190Arg) c.949T>C (p.Cys317Arg) c.691T>C (p.Cys231Arg) n.71T>C c.552T>C n.1222T>C n.1189T>C | ClinVar dbSNP |
| 19 | g.11111525T>G | CA404083152 | LDLR | c.1330T>G (p.Cys444Gly) c.1072T>G (p.Cys358Gly) c.952T>G (p.Cys318Gly) c.1326T>G c.568T>G (p.Cys190Gly) c.949T>G (p.Cys317Gly) c.691T>G (p.Cys231Gly) n.71T>G c.552T>G n.1222T>G n.1189T>G | ClinVar |
| 19 | g.11111525T= | CA2322770702 | LDLR | c.1330T= (p.Cys444=) c.1072T= (p.Cys358=) c.952T= (p.Cys318=) c.1326T= c.568T= (p.Cys190=) c.949T= (p.Cys317=) c.691T= (p.Cys231=) n.71T= c.552T= n.1222T= n.1189T= | |
| 19 | g.11111526G>A | CA10576298 | LDLR | c.1331G>A (p.Cys444Tyr) c.1073G>A (p.Cys358Tyr) c.953G>A (p.Cys318Tyr) c.1327G>A c.569G>A (p.Cys190Tyr) c.950G>A (p.Cys317Tyr) c.692G>A (p.Cys231Tyr) n.72G>A c.553G>A n.1223G>A n.1190G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111526G>C | CA404083156 | LDLR | c.1331G>C (p.Cys444Ser) c.1073G>C (p.Cys358Ser) c.953G>C (p.Cys318Ser) c.1327G>C c.569G>C (p.Cys190Ser) c.950G>C (p.Cys317Ser) c.692G>C (p.Cys231Ser) n.72G>C c.553G>C n.1223G>C n.1190G>C | |
| 19 | g.11111526G= | CA2322770703 | LDLR | c.1331G= (p.Cys444=) c.1073G= (p.Cys358=) c.953G= (p.Cys318=) c.1327G= c.569G= (p.Cys190=) c.950G= (p.Cys317=) c.692G= (p.Cys231=) n.72G= c.553G= n.1223G= n.1190G= |