| 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.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.11111540A= | CA2322770714 | LDLR | c.1345A= (p.Thr449=) c.1087A= (p.Thr363=) c.967A= (p.Thr323=) c.1341A= c.583A= (p.Thr195=) c.964A= (p.Thr322=) c.706A= (p.Thr236=) n.86A= c.567A= n.1237A= n.1204A= | |
| 19 | g.11111540A>C | CA404083273 | LDLR | c.1345A>C (p.Thr449Pro) c.1087A>C (p.Thr363Pro) c.967A>C (p.Thr323Pro) c.1341A>C c.583A>C (p.Thr195Pro) c.964A>C (p.Thr322Pro) c.706A>C (p.Thr236Pro) n.86A>C c.567A>C n.1237A>C n.1204A>C | dbSNP |
| 19 | g.11111540A>G | CA404083270 | LDLR | c.1345A>G (p.Thr449Ala) c.1087A>G (p.Thr363Ala) c.967A>G (p.Thr323Ala) c.1341A>G c.583A>G (p.Thr195Ala) c.964A>G (p.Thr322Ala) c.706A>G (p.Thr236Ala) n.86A>G c.567A>G n.1237A>G n.1204A>G | |
| 19 | g.11111540A>T | CA404083267 | LDLR | c.1345A>T (p.Thr449Ser) c.1087A>T (p.Thr363Ser) c.967A>T (p.Thr323Ser) c.1341A>T c.583A>T (p.Thr195Ser) c.964A>T (p.Thr322Ser) c.706A>T (p.Thr236Ser) n.86A>T c.567A>T n.1237A>T n.1204A>T | |
| 19 | g.11111541C>A | CA10585297 | LDLR | c.1346C>A (p.Thr449Asn) c.1088C>A (p.Thr363Asn) c.968C>A (p.Thr323Asn) c.1342C>A c.584C>A (p.Thr195Asn) c.965C>A (p.Thr322Asn) c.707C>A (p.Thr236Asn) n.87C>A c.568C>A n.1238C>A n.1205C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111541C= | CA2322770715 | LDLR | c.1346C= (p.Thr449=) c.1088C= (p.Thr363=) c.968C= (p.Thr323=) c.1342C= c.584C= (p.Thr195=) c.965C= (p.Thr322=) c.707C= (p.Thr236=) n.87C= c.568C= n.1238C= n.1205C= | |
| 19 | g.11111541C>G | CA404083279 | LDLR | c.1346C>G (p.Thr449Ser) c.1088C>G (p.Thr363Ser) c.968C>G (p.Thr323Ser) c.1342C>G c.584C>G (p.Thr195Ser) c.965C>G (p.Thr322Ser) c.707C>G (p.Thr236Ser) n.87C>G c.568C>G n.1238C>G n.1205C>G | |
| 19 | g.11111541C>T | CA032045 | LDLR | c.1346C>T (p.Thr449Ile) c.1088C>T (p.Thr363Ile) c.968C>T (p.Thr323Ile) c.1342C>T c.584C>T (p.Thr195Ile) c.965C>T (p.Thr322Ile) c.707C>T (p.Thr236Ile) n.87C>T c.568C>T n.1238C>T n.1205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111542C>A | CA505485542 | LDLR | c.1347C>A (p.Thr449=) c.1089C>A (p.Thr363=) c.969C>A (p.Thr323=) c.1343C>A c.585C>A (p.Thr195=) c.966C>A (p.Thr322=) c.708C>A (p.Thr236=) n.88C>A c.569C>A n.1239C>A n.1206C>A | |
| 19 | g.11111542C>G | CA505485543 | LDLR | c.1347C>G (p.Thr449=) c.1089C>G (p.Thr363=) c.969C>G (p.Thr323=) c.1343C>G c.585C>G (p.Thr195=) c.966C>G (p.Thr322=) c.708C>G (p.Thr236=) n.88C>G c.569C>G n.1239C>G n.1206C>G | |
| 19 | g.11111542C>T | CA505485544 | LDLR | c.1347C>T (p.Thr449=) c.1089C>T (p.Thr363=) c.969C>T (p.Thr323=) c.1343C>T c.585C>T (p.Thr195=) c.966C>T (p.Thr322=) c.708C>T (p.Thr236=) n.88C>T c.569C>T n.1239C>T n.1206C>T | ClinVar dbSNP |
| 19 | g.11111543del | CA2695228149 | LDLR | c.1348del (p.Cys450AlafsTer6) c.1090del (p.Cys364AlafsTer6) c.970del (p.Cys324AlafsTer6) c.1344del c.586del (p.Cys196AlafsTer6) c.967del (p.Cys323AlafsTer6) c.709del (p.Cys237AlafsTer6) n.89del c.570del n.1240del n.1207del | |
| 19 | g.11111543T>A | CA404083282 | LDLR | c.1348T>A (p.Cys450Ser) c.1090T>A (p.Cys364Ser) c.970T>A (p.Cys324Ser) c.1344T>A c.586T>A (p.Cys196Ser) c.967T>A (p.Cys323Ser) c.709T>A (p.Cys237Ser) n.89T>A c.570T>A n.1240T>A n.1207T>A | |
| 19 | g.11111543T>C | CA10585298 | LDLR | c.1348T>C (p.Cys450Arg) c.1090T>C (p.Cys364Arg) c.970T>C (p.Cys324Arg) c.1344T>C c.586T>C (p.Cys196Arg) c.967T>C (p.Cys323Arg) c.709T>C (p.Cys237Arg) n.89T>C c.570T>C n.1240T>C n.1207T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11111543T>G | CA404083288 | LDLR | c.1348T>G (p.Cys450Gly) c.1090T>G (p.Cys364Gly) c.970T>G (p.Cys324Gly) c.1344T>G c.586T>G (p.Cys196Gly) c.967T>G (p.Cys323Gly) c.709T>G (p.Cys237Gly) n.89T>G c.570T>G n.1240T>G n.1207T>G | ClinVar gnomAD v4 |
| 19 | g.11111543T= | CA2322770716 | LDLR | c.1348T= (p.Cys450=) c.1090T= (p.Cys364=) c.970T= (p.Cys324=) c.1344T= c.586T= (p.Cys196=) c.967T= (p.Cys323=) c.709T= (p.Cys237=) n.89T= c.570T= n.1240T= n.1207T= | |
| 19 | g.11111544G>A | CA10654848 | LDLR | c.1349G>A (p.Cys450Tyr) c.1091G>A (p.Cys364Tyr) c.971G>A (p.Cys324Tyr) c.1345G>A c.587G>A (p.Cys196Tyr) c.968G>A (p.Cys323Tyr) c.710G>A (p.Cys237Tyr) n.90G>A c.571G>A n.1241G>A n.1208G>A | ClinVar dbSNP |
| 19 | g.11111544G>C | CA10585299 | LDLR | c.1349G>C (p.Cys450Ser) c.1091G>C (p.Cys364Ser) c.971G>C (p.Cys324Ser) c.1345G>C c.587G>C (p.Cys196Ser) c.968G>C (p.Cys323Ser) c.710G>C (p.Cys237Ser) n.90G>C c.571G>C n.1241G>C n.1208G>C | ClinVar dbSNP |
| 19 | g.11111544G= | CA2322770717 | LDLR | c.1349G= (p.Cys450=) c.1091G= (p.Cys364=) c.971G= (p.Cys324=) c.1345G= c.587G= (p.Cys196=) c.968G= (p.Cys323=) c.710G= (p.Cys237=) n.90G= c.571G= n.1241G= n.1208G= | |
| 19 | g.11111544G>T | CA10585300 | LDLR | c.1349G>T (p.Cys450Phe) c.1091G>T (p.Cys364Phe) c.971G>T (p.Cys324Phe) c.1345G>T c.587G>T (p.Cys196Phe) c.968G>T (p.Cys323Phe) c.710G>T (p.Cys237Phe) n.90G>T c.571G>T n.1241G>T n.1208G>T | ClinVar dbSNP |
| 19 | g.11111545C>A | CA404083302 | LDLR | c.1350C>A (p.Cys450Ter) c.1092C>A (p.Cys364Ter) c.972C>A (p.Cys324Ter) c.1346C>A c.588C>A (p.Cys196Ter) c.969C>A (p.Cys323Ter) c.711C>A (p.Cys237Ter) n.91C>A c.572C>A n.1242C>A n.1209C>A | ClinVar dbSNP |
| 19 | g.11111545C= | CA2322770718 | LDLR | c.1350C= (p.Cys450=) c.1092C= (p.Cys364=) c.972C= (p.Cys324=) c.1346C= c.588C= (p.Cys196=) c.969C= (p.Cys323=) c.711C= (p.Cys237=) n.91C= c.572C= n.1242C= n.1209C= | |
| 19 | g.11111545C>G | CA404083303 | LDLR | c.1350C>G (p.Cys450Trp) c.1092C>G (p.Cys364Trp) c.972C>G (p.Cys324Trp) c.1346C>G c.588C>G (p.Cys196Trp) c.969C>G (p.Cys323Trp) c.711C>G (p.Cys237Trp) n.91C>G c.572C>G n.1242C>G n.1209C>G | |
| 19 | g.11111545C>T | CA505485545 | LDLR | c.1350C>T (p.Cys450=) c.1092C>T (p.Cys364=) c.972C>T (p.Cys324=) c.1346C>T c.588C>T (p.Cys196=) c.969C>T (p.Cys323=) c.711C>T (p.Cys237=) n.91C>T c.572C>T n.1242C>T n.1209C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111546A>C | CA404083314 | LDLR | c.1351A>C (p.Ser451Arg) c.1093A>C (p.Ser365Arg) c.973A>C (p.Ser325Arg) c.1347A>C c.589A>C (p.Ser197Arg) c.970A>C (p.Ser324Arg) c.712A>C (p.Ser238Arg) n.92A>C c.573A>C n.1243A>C n.1210A>C | |
| 19 | g.11111546A>G | CA404083311 | LDLR | c.1351A>G (p.Ser451Gly) c.1093A>G (p.Ser365Gly) c.973A>G (p.Ser325Gly) c.1347A>G c.589A>G (p.Ser197Gly) c.970A>G (p.Ser324Gly) c.712A>G (p.Ser238Gly) n.92A>G c.573A>G n.1243A>G n.1210A>G | gnomAD v4 |
| 19 | g.11111546A>T | CA404083308 | LDLR | c.1351A>T (p.Ser451Cys) c.1093A>T (p.Ser365Cys) c.973A>T (p.Ser325Cys) c.1347A>T c.589A>T (p.Ser197Cys) c.970A>T (p.Ser324Cys) c.712A>T (p.Ser238Cys) n.92A>T c.573A>T n.1243A>T n.1210A>T | |
| 19 | g.11111547G>A | CA404083318 | LDLR | c.1352G>A (p.Ser451Asn) c.1094G>A (p.Ser365Asn) c.974G>A (p.Ser325Asn) c.1348G>A c.590G>A (p.Ser197Asn) c.971G>A (p.Ser324Asn) c.713G>A (p.Ser238Asn) n.93G>A c.574G>A n.1244G>A n.1211G>A | |
| 19 | g.11111547G>C | CA404083320 | LDLR | c.1352G>C (p.Ser451Thr) c.1094G>C (p.Ser365Thr) c.974G>C (p.Ser325Thr) c.1348G>C c.590G>C (p.Ser197Thr) c.971G>C (p.Ser324Thr) c.713G>C (p.Ser238Thr) n.93G>C c.574G>C n.1244G>C n.1211G>C | |
| 19 | g.11111547G>T | CA404083323 | LDLR | c.1352G>T (p.Ser451Ile) c.1094G>T (p.Ser365Ile) c.974G>T (p.Ser325Ile) c.1348G>T c.590G>T (p.Ser197Ile) c.971G>T (p.Ser324Ile) c.713G>T (p.Ser238Ile) n.93G>T c.574G>T n.1244G>T n.1211G>T | |
| 19 | g.11111548C>A | CA404083330 | LDLR | c.1353C>A (p.Ser451Arg) c.1095C>A (p.Ser365Arg) c.975C>A (p.Ser325Arg) c.1349C>A c.591C>A (p.Ser197Arg) c.972C>A (p.Ser324Arg) c.714C>A (p.Ser238Arg) n.94C>A c.575C>A n.1245C>A n.1212C>A | |
| 19 | g.11111548C>G | CA404083333 | LDLR | c.1353C>G (p.Ser451Arg) c.1095C>G (p.Ser365Arg) c.975C>G (p.Ser325Arg) c.1349C>G c.591C>G (p.Ser197Arg) c.972C>G (p.Ser324Arg) c.714C>G (p.Ser238Arg) n.94C>G c.575C>G n.1245C>G n.1212C>G | |
| 19 | g.11111548C>T | CA505485546 | LDLR | c.1353C>T (p.Ser451=) c.1095C>T (p.Ser365=) c.975C>T (p.Ser325=) c.1349C>T c.591C>T (p.Ser197=) c.972C>T (p.Ser324=) c.714C>T (p.Ser238=) n.94C>T c.575C>T n.1245C>T n.1212C>T | |
| 19 | g.11111549C>A | CA404083342 | LDLR | c.1354C>A (p.Gln452Lys) c.1096C>A (p.Gln366Lys) c.976C>A (p.Gln326Lys) c.1350C>A c.592C>A (p.Gln198Lys) c.973C>A (p.Gln325Lys) c.715C>A (p.Gln239Lys) n.95C>A c.576C>A n.1246C>A n.1213C>A | |
| 19 | g.11111549C= | CA2322770720 | LDLR | c.1354C= (p.Gln452=) c.1096C= (p.Gln366=) c.976C= (p.Gln326=) c.1350C= c.592C= (p.Gln198=) c.973C= (p.Gln325=) c.715C= (p.Gln239=) n.95C= c.576C= n.1246C= n.1213C= | |
| 19 | g.11111549C>G | CA404083338 | LDLR | c.1354C>G (p.Gln452Glu) c.1096C>G (p.Gln366Glu) c.976C>G (p.Gln326Glu) c.1350C>G c.592C>G (p.Gln198Glu) c.973C>G (p.Gln325Glu) c.715C>G (p.Gln239Glu) n.95C>G c.576C>G n.1246C>G n.1213C>G | |
| 19 | g.11111549C>T | CA10585301 | LDLR | c.1354C>T (p.Gln452Ter) c.1096C>T (p.Gln366Ter) c.976C>T (p.Gln326Ter) c.1350C>T c.592C>T (p.Gln198Ter) c.973C>T (p.Gln325Ter) c.715C>T (p.Gln239Ter) n.95C>T c.576C>T n.1246C>T n.1213C>T | ClinVar dbSNP |
| 19 | g.11111549_11111561delinsCAGCTCTGCGTGA | CA2322770719 | LDLR | c.1354_1366delinsCAGCTCTGCGTGA (p.Gln452=) c.1096_1108delinsCAGCTCTGCGTGA (p.Gln366=) c.976_988delinsCAGCTCTGCGTGA (p.Gln326=) c.1350_1362delinsCAGCTCTGCGTGA c.592_604delinsCAGCTCTGCGTGA (p.Gln198=) c.973_985delinsCAGCTCTGCGTGA (p.Gln325=) c.715_727delinsCAGCTCTGCGTGA (p.Gln239=) n.95_107delinsCAGCTCTGCGTGA c.576_588delinsCAGCTCTGCGTGA n.1246_1258delinsCAGCTCTGCGTGA n.1213_1225delinsCAGCTCTGCGTGA | |
| 19 | g.11111550A= | CA2322770721 | LDLR | c.1355A= (p.Gln452=) c.1097A= (p.Gln366=) c.977A= (p.Gln326=) c.1351A= c.593A= (p.Gln198=) c.974A= (p.Gln325=) c.716A= (p.Gln239=) n.96A= c.577A= n.1247A= n.1214A= | |
| 19 | g.11111550A>C | CA10585302 | LDLR | c.1355A>C (p.Gln452Pro) c.1097A>C (p.Gln366Pro) c.977A>C (p.Gln326Pro) c.1351A>C c.593A>C (p.Gln198Pro) c.974A>C (p.Gln325Pro) c.716A>C (p.Gln239Pro) n.96A>C c.577A>C n.1247A>C n.1214A>C | ClinVar dbSNP |
| 19 | g.11111550A>G | CA032068 | LDLR | c.1355A>G (p.Gln452Arg) c.1097A>G (p.Gln366Arg) c.977A>G (p.Gln326Arg) c.1351A>G c.593A>G (p.Gln198Arg) c.974A>G (p.Gln325Arg) c.716A>G (p.Gln239Arg) n.96A>G c.577A>G n.1247A>G n.1214A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11111550A>T | CA404083350 | LDLR | c.1355A>T (p.Gln452Leu) c.1097A>T (p.Gln366Leu) c.977A>T (p.Gln326Leu) c.1351A>T c.593A>T (p.Gln198Leu) c.974A>T (p.Gln325Leu) c.716A>T (p.Gln239Leu) n.96A>T c.577A>T n.1247A>T n.1214A>T | |
| 19 | g.11111551_11111562del | CA10583776 | LDLR | c.1356_1367del (p.Gln452_Asn456delinsHis) c.1098_1109del (p.Gln366_Asn370delinsHis) c.978_989del (p.Gln326_Asn330delinsHis) c.1352_1363del c.594_605del (p.Gln198_Asn202delinsHis) c.975_986del (p.Gln325_Asn329delinsHis) c.717_728del (p.Gln239_Asn243delinsHis) n.97_108del c.578_589del n.1248_1259del n.1215_1226del | ClinVar dbSNP |