| 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.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.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.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= | |
| 19 | g.11111526G>T | CA404083154 | LDLR | c.1331G>T (p.Cys444Phe) c.1073G>T (p.Cys358Phe) c.953G>T (p.Cys318Phe) c.1327G>T c.569G>T (p.Cys190Phe) c.950G>T (p.Cys317Phe) c.692G>T (p.Cys231Phe) n.72G>T c.553G>T n.1223G>T n.1190G>T | |
| 19 | g.11111526_11111532delinsGTCAGGA | CA2322770704 | LDLR | c.1331_1337delinsGTCAGGA (p.Cys444=) c.1073_1079delinsGTCAGGA (p.Cys358=) c.953_959delinsGTCAGGA (p.Cys318=) c.1327_1333delinsGTCAGGA c.569_575delinsGTCAGGA (p.Cys190=) c.950_956delinsGTCAGGA (p.Cys317=) c.692_698delinsGTCAGGA (p.Cys231=) n.72_78delinsGTCAGGA c.553_559delinsGTCAGGA n.1223_1229delinsGTCAGGA n.1190_1196delinsGTCAGGA | |
| 19 | g.11111527T>A | CA404083159 | LDLR | c.1332T>A (p.Cys444Ter) c.1074T>A (p.Cys358Ter) c.954T>A (p.Cys318Ter) c.1328T>A c.570T>A (p.Cys190Ter) c.951T>A (p.Cys317Ter) c.693T>A (p.Cys231Ter) n.73T>A c.554T>A n.1224T>A n.1191T>A | |
| 19 | g.11111527T>C | CA031921 | LDLR | c.1332T>C (p.Cys444=) c.1074T>C (p.Cys358=) c.954T>C (p.Cys318=) c.1328T>C c.570T>C (p.Cys190=) c.951T>C (p.Cys317=) c.693T>C (p.Cys231=) n.73T>C c.554T>C n.1224T>C n.1191T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11111527T>G | CA404083163 | LDLR | c.1332T>G (p.Cys444Trp) c.1074T>G (p.Cys358Trp) c.954T>G (p.Cys318Trp) c.1328T>G c.570T>G (p.Cys190Trp) c.951T>G (p.Cys317Trp) c.693T>G (p.Cys231Trp) n.73T>G c.554T>G n.1224T>G n.1191T>G | |
| 19 | g.11111527T= | CA2322770705 | LDLR | c.1332T= (p.Cys444=) c.1074T= (p.Cys358=) c.954T= (p.Cys318=) c.1328T= c.570T= (p.Cys190=) c.951T= (p.Cys317=) c.693T= (p.Cys231=) n.73T= c.554T= n.1224T= n.1191T= | |
| 19 | g.11111529_11111534del | CA10585295 | LDLR | c.1334_1339del (p.Gln445_Asp446del) c.1076_1081del (p.Gln359_Asp360del) c.956_961del (p.Gln319_Asp320del) c.1330_1335del c.572_577del (p.Gln191_Asp192del) c.953_958del (p.Gln318_Asp319del) c.695_700del (p.Gln232_Asp233del) n.75_80del c.556_561del n.1226_1231del n.1193_1198del | ClinVar dbSNP |
| 19 | g.11111528C>A | CA404083166 | LDLR | c.1333C>A (p.Gln445Lys) c.1075C>A (p.Gln359Lys) c.955C>A (p.Gln319Lys) c.1329C>A c.571C>A (p.Gln191Lys) c.952C>A (p.Gln318Lys) c.694C>A (p.Gln232Lys) n.74C>A c.555C>A n.1225C>A n.1192C>A | ClinVar gnomAD v4 |
| 19 | g.11111528C= | CA2322770706 | LDLR | c.1333C= (p.Gln445=) c.1075C= (p.Gln359=) c.955C= (p.Gln319=) c.1329C= c.571C= (p.Gln191=) c.952C= (p.Gln318=) c.694C= (p.Gln232=) n.74C= c.555C= n.1225C= n.1192C= | |
| 19 | g.11111528C>G | CA404083167 | LDLR | c.1333C>G (p.Gln445Glu) c.1075C>G (p.Gln359Glu) c.955C>G (p.Gln319Glu) c.1329C>G c.571C>G (p.Gln191Glu) c.952C>G (p.Gln318Glu) c.694C>G (p.Gln232Glu) n.74C>G c.555C>G n.1225C>G n.1192C>G | |
| 19 | g.11111528C>T | CA10585294 | LDLR | c.1333C>T (p.Gln445Ter) c.1075C>T (p.Gln359Ter) c.955C>T (p.Gln319Ter) c.1329C>T c.571C>T (p.Gln191Ter) c.952C>T (p.Gln318Ter) c.694C>T (p.Gln232Ter) n.74C>T c.555C>T n.1225C>T n.1192C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11111529A>C | CA404083173 | LDLR | c.1334A>C (p.Gln445Pro) c.1076A>C (p.Gln359Pro) c.956A>C (p.Gln319Pro) c.1330A>C c.572A>C (p.Gln191Pro) c.953A>C (p.Gln318Pro) c.695A>C (p.Gln232Pro) n.75A>C c.556A>C n.1226A>C n.1193A>C | |
| 19 | g.11111529A>G | CA404083178 | LDLR | c.1334A>G (p.Gln445Arg) c.1076A>G (p.Gln359Arg) c.956A>G (p.Gln319Arg) c.1330A>G c.572A>G (p.Gln191Arg) c.953A>G (p.Gln318Arg) c.695A>G (p.Gln232Arg) n.75A>G c.556A>G n.1226A>G n.1193A>G | |
| 19 | g.11111529A>T | CA404083175 | LDLR | c.1334A>T (p.Gln445Leu) c.1076A>T (p.Gln359Leu) c.956A>T (p.Gln319Leu) c.1330A>T c.572A>T (p.Gln191Leu) c.953A>T (p.Gln318Leu) c.695A>T (p.Gln232Leu) n.75A>T c.556A>T n.1226A>T n.1193A>T | |
| 19 | g.11111530G>A | CA505485536 | LDLR | c.1335G>A (p.Gln445=) c.1077G>A (p.Gln359=) c.957G>A (p.Gln319=) c.1331G>A c.573G>A (p.Gln191=) c.954G>A (p.Gln318=) c.696G>A (p.Gln232=) n.76G>A c.557G>A n.1227G>A n.1194G>A | |
| 19 | g.11111530G>C | CA404083181 | LDLR | c.1335G>C (p.Gln445His) c.1077G>C (p.Gln359His) c.957G>C (p.Gln319His) c.1331G>C c.573G>C (p.Gln191His) c.954G>C (p.Gln318His) c.696G>C (p.Gln232His) n.76G>C c.557G>C n.1227G>C n.1194G>C | |
| 19 | g.11111530G>T | CA404083184 | LDLR | c.1335G>T (p.Gln445His) c.1077G>T (p.Gln359His) c.957G>T (p.Gln319His) c.1331G>T c.573G>T (p.Gln191His) c.954G>T (p.Gln318His) c.696G>T (p.Gln232His) n.76G>T c.557G>T n.1227G>T n.1194G>T | |
| 19 | g.11111531G>A | CA404083187 | LDLR | c.1336G>A (p.Asp446Asn) c.1078G>A (p.Asp360Asn) c.958G>A (p.Asp320Asn) c.1332G>A c.574G>A (p.Asp192Asn) c.955G>A (p.Asp319Asn) c.697G>A (p.Asp233Asn) n.77G>A c.558G>A n.1228G>A n.1195G>A | |
| 19 | g.11111531G>C | CA031936 | LDLR | c.1336G>C (p.Asp446His) c.1078G>C (p.Asp360His) c.958G>C (p.Asp320His) c.1332G>C c.574G>C (p.Asp192His) c.955G>C (p.Asp319His) c.697G>C (p.Asp233His) n.77G>C c.558G>C n.1228G>C n.1195G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111531G= | CA2322770707 | LDLR | c.1336G= (p.Asp446=) c.1078G= (p.Asp360=) c.958G= (p.Asp320=) c.1332G= c.574G= (p.Asp192=) c.955G= (p.Asp319=) c.697G= (p.Asp233=) n.77G= c.558G= n.1228G= n.1195G= | |
| 19 | g.11111531G>T | CA404083192 | LDLR | c.1336G>T (p.Asp446Tyr) c.1078G>T (p.Asp360Tyr) c.958G>T (p.Asp320Tyr) c.1332G>T c.574G>T (p.Asp192Tyr) c.955G>T (p.Asp319Tyr) c.697G>T (p.Asp233Tyr) n.77G>T c.558G>T n.1228G>T n.1195G>T | |
| 19 | g.11111532A>C | CA404083196 | LDLR | c.1337A>C (p.Asp446Ala) c.1079A>C (p.Asp360Ala) c.959A>C (p.Asp320Ala) c.1333A>C c.575A>C (p.Asp192Ala) c.956A>C (p.Asp319Ala) c.698A>C (p.Asp233Ala) n.78A>C c.559A>C n.1229A>C n.1196A>C | |
| 19 | g.11111532A>G | CA404083198 | LDLR | c.1337A>G (p.Asp446Gly) c.1079A>G (p.Asp360Gly) c.959A>G (p.Asp320Gly) c.1333A>G c.575A>G (p.Asp192Gly) c.956A>G (p.Asp319Gly) c.698A>G (p.Asp233Gly) n.78A>G c.559A>G n.1229A>G n.1196A>G | |
| 19 | g.11111532A>T | CA404083200 | LDLR | c.1337A>T (p.Asp446Val) c.1079A>T (p.Asp360Val) c.959A>T (p.Asp320Val) c.1333A>T c.575A>T (p.Asp192Val) c.956A>T (p.Asp319Val) c.698A>T (p.Asp233Val) n.78A>T c.559A>T n.1229A>T n.1196A>T | |
| 19 | g.11111533T>A | CA404083204 | LDLR | c.1338T>A (p.Asp446Glu) c.1080T>A (p.Asp360Glu) c.960T>A (p.Asp320Glu) c.1334T>A c.576T>A (p.Asp192Glu) c.957T>A (p.Asp319Glu) c.699T>A (p.Asp233Glu) n.79T>A c.560T>A n.1230T>A n.1197T>A | |
| 19 | g.11111533T>C | CA505485538 | LDLR | c.1338T>C (p.Asp446=) c.1080T>C (p.Asp360=) c.960T>C (p.Asp320=) c.1334T>C c.576T>C (p.Asp192=) c.957T>C (p.Asp319=) c.699T>C (p.Asp233=) n.79T>C c.560T>C n.1230T>C n.1197T>C | |
| 19 | g.11111533T>G | CA031958 | LDLR | c.1338T>G (p.Asp446Glu) c.1080T>G (p.Asp360Glu) c.960T>G (p.Asp320Glu) c.1334T>G c.576T>G (p.Asp192Glu) c.957T>G (p.Asp319Glu) c.699T>G (p.Asp233Glu) n.79T>G c.560T>G n.1230T>G n.1197T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11111533T= | CA2322770708 | LDLR | c.1338T= (p.Asp446=) c.1080T= (p.Asp360=) c.960T= (p.Asp320=) c.1334T= c.576T= (p.Asp192=) c.957T= (p.Asp319=) c.699T= (p.Asp233=) n.79T= c.560T= n.1230T= n.1197T= | |
| 19 | g.11111534C>A | CA404083208 | LDLR | c.1339C>A (p.Pro447Thr) c.1081C>A (p.Pro361Thr) c.961C>A (p.Pro321Thr) c.1335C>A c.577C>A (p.Pro193Thr) c.958C>A (p.Pro320Thr) c.700C>A (p.Pro234Thr) n.80C>A c.561C>A n.1231C>A n.1198C>A | gnomAD v4 |