| 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_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.11111537G>A | CA404083234 | LDLR | c.1342G>A (p.Asp448Asn) c.1084G>A (p.Asp362Asn) c.964G>A (p.Asp322Asn) c.1338G>A c.580G>A (p.Asp194Asn) c.961G>A (p.Asp321Asn) c.703G>A (p.Asp235Asn) n.83G>A c.564G>A n.1234G>A n.1201G>A | dbSNP gnomAD v4 COSMIC |
| 19 | g.11111537G>C | CA404083237 | LDLR | c.1342G>C (p.Asp448His) c.1084G>C (p.Asp362His) c.964G>C (p.Asp322His) c.1338G>C c.580G>C (p.Asp194His) c.961G>C (p.Asp321His) c.703G>C (p.Asp235His) n.83G>C c.564G>C n.1234G>C n.1201G>C | |
| 19 | g.11111537G= | CA2322770712 | LDLR | c.1342G= (p.Asp448=) c.1084G= (p.Asp362=) c.964G= (p.Asp322=) c.1338G= c.580G= (p.Asp194=) c.961G= (p.Asp321=) c.703G= (p.Asp235=) n.83G= c.564G= n.1234G= n.1201G= | |
| 19 | g.11111537G>T | CA404083238 | LDLR | c.1342G>T (p.Asp448Tyr) c.1084G>T (p.Asp362Tyr) c.964G>T (p.Asp322Tyr) c.1338G>T c.580G>T (p.Asp194Tyr) c.961G>T (p.Asp321Tyr) c.703G>T (p.Asp235Tyr) n.83G>T c.564G>T n.1234G>T n.1201G>T | |
| 19 | g.11111537_11111538delinsGA | CA2322770711 | LDLR | c.1342_1343delinsGA (p.Asp448=) c.1084_1085delinsGA (p.Asp362=) c.964_965delinsGA (p.Asp322=) c.1338_1339delinsGA c.580_581delinsGA (p.Asp194=) c.961_962delinsGA (p.Asp321=) c.703_704delinsGA (p.Asp235=) n.83_84delinsGA c.564_565delinsGA n.1234_1235delinsGA n.1201_1202delinsGA | |
| 19 | g.11111538del | CA10585296 | LDLR | c.1343del (p.Asp448AlafsTer8) c.1085del (p.Asp362AlafsTer8) c.965del (p.Asp322AlafsTer8) c.1339del c.581del (p.Asp194AlafsTer8) c.962del (p.Asp321AlafsTer8) c.704del (p.Asp235AlafsTer8) n.84del c.565del n.1235del n.1202del | ClinVar dbSNP |
| 19 | g.11111538A= | CA2322770713 | LDLR | c.1343A= (p.Asp448=) c.1085A= (p.Asp362=) c.965A= (p.Asp322=) c.1339A= c.581A= (p.Asp194=) c.962A= (p.Asp321=) c.704A= (p.Asp235=) n.84A= c.565A= n.1235A= n.1202A= | |
| 19 | g.11111538A>C | CA023415 | LDLR | c.1343A>C (p.Asp448Ala) c.1085A>C (p.Asp362Ala) c.965A>C (p.Asp322Ala) c.1339A>C c.581A>C (p.Asp194Ala) c.962A>C (p.Asp321Ala) c.704A>C (p.Asp235Ala) n.84A>C c.565A>C n.1235A>C n.1202A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111538A>G | CA404083252 | LDLR | c.1343A>G (p.Asp448Gly) c.1085A>G (p.Asp362Gly) c.965A>G (p.Asp322Gly) c.1339A>G c.581A>G (p.Asp194Gly) c.962A>G (p.Asp321Gly) c.704A>G (p.Asp235Gly) n.84A>G c.565A>G n.1235A>G n.1202A>G | |
| 19 | g.11111538A>T | CA032033 | LDLR | c.1343A>T (p.Asp448Val) c.1085A>T (p.Asp362Val) c.965A>T (p.Asp322Val) c.1339A>T c.581A>T (p.Asp194Val) c.962A>T (p.Asp321Val) c.704A>T (p.Asp235Val) n.84A>T c.565A>T n.1235A>T n.1202A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11111539C>A | CA404083260 | LDLR | c.1344C>A (p.Asp448Glu) c.1086C>A (p.Asp362Glu) c.966C>A (p.Asp322Glu) c.1340C>A c.582C>A (p.Asp194Glu) c.963C>A (p.Asp321Glu) c.705C>A (p.Asp235Glu) n.85C>A c.566C>A n.1236C>A n.1203C>A | |
| 19 | g.11111539C>G | CA404083263 | LDLR | c.1344C>G (p.Asp448Glu) c.1086C>G (p.Asp362Glu) c.966C>G (p.Asp322Glu) c.1340C>G c.582C>G (p.Asp194Glu) c.963C>G (p.Asp321Glu) c.705C>G (p.Asp235Glu) n.85C>G c.566C>G n.1236C>G n.1203C>G | |
| 19 | g.11111539C>T | CA505485541 | LDLR | c.1344C>T (p.Asp448=) c.1086C>T (p.Asp362=) c.966C>T (p.Asp322=) c.1340C>T c.582C>T (p.Asp194=) c.963C>T (p.Asp321=) c.705C>T (p.Asp235=) n.85C>T c.566C>T n.1236C>T n.1203C>T | ClinVar |
| 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 |