| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.139325533T>A | CA361146306 | MATR3 | c.2242T>A (p.Ser748Thr) c.2386T>A (p.Ser796Thr) n.1695T>A c.1228T>A (p.Ser410Thr) c.1378T>A (p.Ser460Thr) n.5962T>A n.420T>A c.550T>A (p.Ser184Thr) c.1381T>A (p.Ser461Thr) c.1372T>A (p.Ser458Thr) c.1342T>A (p.Ser448Thr) | |
| 5 | g.139325533T>C | CA3433397 | MATR3 | c.2242T>C (p.Ser748Pro) c.2386T>C (p.Ser796Pro) n.1695T>C c.1228T>C (p.Ser410Pro) c.1378T>C (p.Ser460Pro) n.5962T>C n.420T>C c.550T>C (p.Ser184Pro) c.1381T>C (p.Ser461Pro) c.1372T>C (p.Ser458Pro) c.1342T>C (p.Ser448Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325533T>G | CA361146308 | MATR3 | c.2242T>G (p.Ser748Ala) c.2386T>G (p.Ser796Ala) n.1695T>G c.1228T>G (p.Ser410Ala) c.1378T>G (p.Ser460Ala) n.5962T>G n.420T>G c.550T>G (p.Ser184Ala) c.1381T>G (p.Ser461Ala) c.1372T>G (p.Ser458Ala) c.1342T>G (p.Ser448Ala) | dbSNP |
| 5 | g.139325533T= | CA1586265079 | MATR3 | c.2242T= (p.Ser748=) c.2386T= (p.Ser796=) n.1695T= c.1228T= (p.Ser410=) c.1378T= (p.Ser460=) n.5962T= n.420T= c.550T= (p.Ser184=) c.1381T= (p.Ser461=) c.1372T= (p.Ser458=) c.1342T= (p.Ser448=) | |
| 5 | g.139325534C>A | CA361146309 | MATR3 | c.2243C>A (p.Ser748Tyr) c.2387C>A (p.Ser796Tyr) n.1696C>A c.1229C>A (p.Ser410Tyr) c.1379C>A (p.Ser460Tyr) n.5963C>A n.421C>A c.551C>A (p.Ser184Tyr) c.1382C>A (p.Ser461Tyr) c.1373C>A (p.Ser458Tyr) c.1343C>A (p.Ser448Tyr) | |
| 5 | g.139325534C= | CA1586265086 | MATR3 | c.2243C= (p.Ser748=) c.2387C= (p.Ser796=) n.1696C= c.1229C= (p.Ser410=) c.1379C= (p.Ser460=) n.5963C= n.421C= c.551C= (p.Ser184=) c.1382C= (p.Ser461=) c.1373C= (p.Ser458=) c.1343C= (p.Ser448=) | |
| 5 | g.139325534C>G | CA128241004 | MATR3 | c.2243C>G (p.Ser748Cys) c.2387C>G (p.Ser796Cys) n.1696C>G c.1229C>G (p.Ser410Cys) c.1379C>G (p.Ser460Cys) n.5963C>G n.421C>G c.551C>G (p.Ser184Cys) c.1382C>G (p.Ser461Cys) c.1373C>G (p.Ser458Cys) c.1343C>G (p.Ser448Cys) | dbSNP gnomAD v4 |
| 5 | g.139325534C>T | CA361146311 | MATR3 | c.2243C>T (p.Ser748Phe) c.2387C>T (p.Ser796Phe) n.1696C>T c.1229C>T (p.Ser410Phe) c.1379C>T (p.Ser460Phe) n.5963C>T n.421C>T c.551C>T (p.Ser184Phe) c.1382C>T (p.Ser461Phe) c.1373C>T (p.Ser458Phe) c.1343C>T (p.Ser448Phe) | |
| 5 | g.139325535T>A | CA446793623 | MATR3 | c.2244T>A (p.Ser748=) c.2388T>A (p.Ser796=) n.1697T>A c.1230T>A (p.Ser410=) c.1380T>A (p.Ser460=) n.5964T>A n.422T>A c.552T>A (p.Ser184=) c.1383T>A (p.Ser461=) c.1374T>A (p.Ser458=) c.1344T>A (p.Ser448=) | |
| 5 | g.139325535T>C | CA446793625 | MATR3 | c.2244T>C (p.Ser748=) c.2388T>C (p.Ser796=) n.1697T>C c.1230T>C (p.Ser410=) c.1380T>C (p.Ser460=) n.5964T>C n.422T>C c.552T>C (p.Ser184=) c.1383T>C (p.Ser461=) c.1374T>C (p.Ser458=) c.1344T>C (p.Ser448=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.139325535T>G | CA446793624 | MATR3 | c.2244T>G (p.Ser748=) c.2388T>G (p.Ser796=) n.1697T>G c.1230T>G (p.Ser410=) c.1380T>G (p.Ser460=) n.5964T>G n.422T>G c.552T>G (p.Ser184=) c.1383T>G (p.Ser461=) c.1374T>G (p.Ser458=) c.1344T>G (p.Ser448=) | |
| 5 | g.139325535T= | CA1586265088 | MATR3 | c.2244T= (p.Ser748=) c.2388T= (p.Ser796=) n.1697T= c.1230T= (p.Ser410=) c.1380T= (p.Ser460=) n.5964T= n.422T= c.552T= (p.Ser184=) c.1383T= (p.Ser461=) c.1374T= (p.Ser458=) c.1344T= (p.Ser448=) | |
| 5 | g.139325536G>A | CA361146313 | MATR3 | c.2245G>A (p.Glu749Lys) c.2389G>A (p.Glu797Lys) n.1698G>A c.1231G>A (p.Glu411Lys) c.1381G>A (p.Glu461Lys) n.5965G>A n.423G>A c.553G>A (p.Glu185Lys) c.1384G>A (p.Glu462Lys) c.1375G>A (p.Glu459Lys) c.1345G>A (p.Glu449Lys) | gnomAD v4 |
| 5 | g.139325536G>C | CA361146314 | MATR3 | c.2245G>C (p.Glu749Gln) c.2389G>C (p.Glu797Gln) n.1698G>C c.1231G>C (p.Glu411Gln) c.1381G>C (p.Glu461Gln) n.5965G>C n.423G>C c.553G>C (p.Glu185Gln) c.1384G>C (p.Glu462Gln) c.1375G>C (p.Glu459Gln) c.1345G>C (p.Glu449Gln) | |
| 5 | g.139325536G>T | CA361146316 | MATR3 | c.2245G>T (p.Glu749Ter) c.2389G>T (p.Glu797Ter) n.1698G>T c.1231G>T (p.Glu411Ter) c.1381G>T (p.Glu461Ter) n.5965G>T n.423G>T c.553G>T (p.Glu185Ter) c.1384G>T (p.Glu462Ter) c.1375G>T (p.Glu459Ter) c.1345G>T (p.Glu449Ter) | |
| 5 | g.139325537A>C | CA361146321 | MATR3 | c.2246A>C (p.Glu749Ala) c.2390A>C (p.Glu797Ala) n.1699A>C c.1232A>C (p.Glu411Ala) c.1382A>C (p.Glu461Ala) n.5966A>C n.424A>C c.554A>C (p.Glu185Ala) c.1385A>C (p.Glu462Ala) c.1376A>C (p.Glu459Ala) c.1346A>C (p.Glu449Ala) | |
| 5 | g.139325537A>G | CA361146318 | MATR3 | c.2246A>G (p.Glu749Gly) c.2390A>G (p.Glu797Gly) n.1699A>G c.1232A>G (p.Glu411Gly) c.1382A>G (p.Glu461Gly) n.5966A>G n.424A>G c.554A>G (p.Glu185Gly) c.1385A>G (p.Glu462Gly) c.1376A>G (p.Glu459Gly) c.1346A>G (p.Glu449Gly) | |
| 5 | g.139325537A>T | CA361146320 | MATR3 | c.2246A>T (p.Glu749Val) c.2390A>T (p.Glu797Val) n.1699A>T c.1232A>T (p.Glu411Val) c.1382A>T (p.Glu461Val) n.5966A>T n.424A>T c.554A>T (p.Glu185Val) c.1385A>T (p.Glu462Val) c.1376A>T (p.Glu459Val) c.1346A>T (p.Glu449Val) | |
| 5 | g.139325538G>A | CA446793632 | MATR3 | c.2247G>A (p.Glu749=) c.2391G>A (p.Glu797=) n.1700G>A c.1233G>A (p.Glu411=) c.1383G>A (p.Glu461=) n.5967G>A n.425G>A c.555G>A (p.Glu185=) c.1386G>A (p.Glu462=) c.1377G>A (p.Glu459=) c.1347G>A (p.Glu449=) | |
| 5 | g.139325538G>C | CA361146323 | MATR3 | c.2247G>C (p.Glu749Asp) c.2391G>C (p.Glu797Asp) n.1700G>C c.1233G>C (p.Glu411Asp) c.1383G>C (p.Glu461Asp) n.5967G>C n.425G>C c.555G>C (p.Glu185Asp) c.1386G>C (p.Glu462Asp) c.1377G>C (p.Glu459Asp) c.1347G>C (p.Glu449Asp) | |
| 5 | g.139325538G>T | CA361146325 | MATR3 | c.2247G>T (p.Glu749Asp) c.2391G>T (p.Glu797Asp) n.1700G>T c.1233G>T (p.Glu411Asp) c.1383G>T (p.Glu461Asp) n.5967G>T n.425G>T c.555G>T (p.Glu185Asp) c.1386G>T (p.Glu462Asp) c.1377G>T (p.Glu459Asp) c.1347G>T (p.Glu449Asp) | |
| 5 | g.139325539A>C | CA361146327 | MATR3 | c.2248A>C (p.Asn750His) c.2392A>C (p.Asn798His) n.1701A>C c.1234A>C (p.Asn412His) c.1384A>C (p.Asn462His) n.5968A>C n.426A>C c.556A>C (p.Asn186His) c.1387A>C (p.Asn463His) c.1378A>C (p.Asn460His) c.1348A>C (p.Asn450His) | |
| 5 | g.139325539A>G | CA361146329 | MATR3 | c.2248A>G (p.Asn750Asp) c.2392A>G (p.Asn798Asp) n.1701A>G c.1234A>G (p.Asn412Asp) c.1384A>G (p.Asn462Asp) n.5968A>G n.426A>G c.556A>G (p.Asn186Asp) c.1387A>G (p.Asn463Asp) c.1378A>G (p.Asn460Asp) c.1348A>G (p.Asn450Asp) | gnomAD v4 |
| 5 | g.139325539A>T | CA361146330 | MATR3 | c.2248A>T (p.Asn750Tyr) c.2392A>T (p.Asn798Tyr) n.1701A>T c.1234A>T (p.Asn412Tyr) c.1384A>T (p.Asn462Tyr) n.5968A>T n.426A>T c.556A>T (p.Asn186Tyr) c.1387A>T (p.Asn463Tyr) c.1378A>T (p.Asn460Tyr) c.1348A>T (p.Asn450Tyr) | |
| 5 | g.139325540A= | CA1586265091 | MATR3 | c.2249A= (p.Asn750=) c.2393A= (p.Asn798=) n.1702A= c.1235A= (p.Asn412=) c.1385A= (p.Asn462=) n.5969A= n.427A= c.557A= (p.Asn186=) c.1388A= (p.Asn463=) c.1379A= (p.Asn460=) c.1349A= (p.Asn450=) | |
| 5 | g.139325540A>C | CA361146333 | MATR3 | c.2249A>C (p.Asn750Thr) c.2393A>C (p.Asn798Thr) n.1702A>C c.1235A>C (p.Asn412Thr) c.1385A>C (p.Asn462Thr) n.5969A>C n.427A>C c.557A>C (p.Asn186Thr) c.1388A>C (p.Asn463Thr) c.1379A>C (p.Asn460Thr) c.1349A>C (p.Asn450Thr) | |
| 5 | g.139325540A>G | CA361146335 | MATR3 | c.2249A>G (p.Asn750Ser) c.2393A>G (p.Asn798Ser) n.1702A>G c.1235A>G (p.Asn412Ser) c.1385A>G (p.Asn462Ser) n.5969A>G n.427A>G c.557A>G (p.Asn186Ser) c.1388A>G (p.Asn463Ser) c.1379A>G (p.Asn460Ser) c.1349A>G (p.Asn450Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325540A>T | CA361146336 | MATR3 | c.2249A>T (p.Asn750Ile) c.2393A>T (p.Asn798Ile) n.1702A>T c.1235A>T (p.Asn412Ile) c.1385A>T (p.Asn462Ile) n.5969A>T n.427A>T c.557A>T (p.Asn186Ile) c.1388A>T (p.Asn463Ile) c.1379A>T (p.Asn460Ile) c.1349A>T (p.Asn450Ile) | |
| 5 | g.139325541C>A | CA3433399 | MATR3 | c.2250C>A (p.Asn750Lys) c.2394C>A (p.Asn798Lys) n.1703C>A c.1236C>A (p.Asn412Lys) c.1386C>A (p.Asn462Lys) n.5970C>A n.428C>A c.558C>A (p.Asn186Lys) c.1389C>A (p.Asn463Lys) c.1380C>A (p.Asn460Lys) c.1350C>A (p.Asn450Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325541C= | CA1586265093 | MATR3 | c.2250C= (p.Asn750=) c.2394C= (p.Asn798=) n.1703C= c.1236C= (p.Asn412=) c.1386C= (p.Asn462=) n.5970C= n.428C= c.558C= (p.Asn186=) c.1389C= (p.Asn463=) c.1380C= (p.Asn460=) c.1350C= (p.Asn450=) | |
| 5 | g.139325541C>G | CA361146338 | MATR3 | c.2250C>G (p.Asn750Lys) c.2394C>G (p.Asn798Lys) n.1703C>G c.1236C>G (p.Asn412Lys) c.1386C>G (p.Asn462Lys) n.5970C>G n.428C>G c.558C>G (p.Asn186Lys) c.1389C>G (p.Asn463Lys) c.1380C>G (p.Asn460Lys) c.1350C>G (p.Asn450Lys) | |
| 5 | g.139325541C>T | CA3433398 | MATR3 | c.2250C>T (p.Asn750=) c.2394C>T (p.Asn798=) n.1703C>T c.1236C>T (p.Asn412=) c.1386C>T (p.Asn462=) n.5970C>T n.428C>T c.558C>T (p.Asn186=) c.1389C>T (p.Asn463=) c.1380C>T (p.Asn460=) c.1350C>T (p.Asn450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.139325542G>A | CA3433400 | MATR3 | c.2251G>A (p.Ala751Thr) c.2395G>A (p.Ala799Thr) n.1704G>A c.1237G>A (p.Ala413Thr) c.1387G>A (p.Ala463Thr) n.5971G>A n.429G>A c.559G>A (p.Ala187Thr) c.1390G>A (p.Ala464Thr) c.1381G>A (p.Ala461Thr) c.1351G>A (p.Ala451Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325542G>C | CA361146344 | MATR3 | c.2251G>C (p.Ala751Pro) c.2395G>C (p.Ala799Pro) n.1704G>C c.1237G>C (p.Ala413Pro) c.1387G>C (p.Ala463Pro) n.5971G>C n.429G>C c.559G>C (p.Ala187Pro) c.1390G>C (p.Ala464Pro) c.1381G>C (p.Ala461Pro) c.1351G>C (p.Ala451Pro) | |
| 5 | g.139325542G= | CA1586265098 | MATR3 | c.2251G= (p.Ala751=) c.2395G= (p.Ala799=) n.1704G= c.1237G= (p.Ala413=) c.1387G= (p.Ala463=) n.5971G= n.429G= c.559G= (p.Ala187=) c.1390G= (p.Ala464=) c.1381G= (p.Ala461=) c.1351G= (p.Ala451=) | |
| 5 | g.139325542G>T | CA361146341 | MATR3 | c.2251G>T (p.Ala751Ser) c.2395G>T (p.Ala799Ser) n.1704G>T c.1237G>T (p.Ala413Ser) c.1387G>T (p.Ala463Ser) n.5971G>T n.429G>T c.559G>T (p.Ala187Ser) c.1390G>T (p.Ala464Ser) c.1381G>T (p.Ala461Ser) c.1351G>T (p.Ala451Ser) | |
| 5 | g.139325543C>A | CA361146346 | MATR3 | c.2252C>A (p.Ala751Asp) c.2396C>A (p.Ala799Asp) n.1705C>A c.1238C>A (p.Ala413Asp) c.1388C>A (p.Ala463Asp) n.5972C>A n.430C>A c.560C>A (p.Ala187Asp) c.1391C>A (p.Ala464Asp) c.1382C>A (p.Ala461Asp) c.1352C>A (p.Ala451Asp) | |
| 5 | g.139325543C>G | CA361146347 | MATR3 | c.2252C>G (p.Ala751Gly) c.2396C>G (p.Ala799Gly) n.1705C>G c.1238C>G (p.Ala413Gly) c.1388C>G (p.Ala463Gly) n.5972C>G n.430C>G c.560C>G (p.Ala187Gly) c.1391C>G (p.Ala464Gly) c.1382C>G (p.Ala461Gly) c.1352C>G (p.Ala451Gly) | |
| 5 | g.139325543C>T | CA361146349 | MATR3 | c.2252C>T (p.Ala751Val) c.2396C>T (p.Ala799Val) n.1705C>T c.1238C>T (p.Ala413Val) c.1388C>T (p.Ala463Val) n.5972C>T n.430C>T c.560C>T (p.Ala187Val) c.1391C>T (p.Ala464Val) c.1382C>T (p.Ala461Val) c.1352C>T (p.Ala451Val) | |
| 5 | g.139325543_139325546delinsCTGA | CA1586265100 | MATR3 | c.2252_2255delinsCTGA (p.Ala751=) c.2396_2399delinsCTGA (p.Ala799=) n.1705_1708delinsCTGA c.1238_1241delinsCTGA (p.Ala413=) c.1388_1391delinsCTGA (p.Ala463=) n.5972_5975delinsCTGA n.430_433delinsCTGA c.560_563delinsCTGA (p.Ala187=) c.1391_1394delinsCTGA (p.Ala464=) c.1382_1385delinsCTGA (p.Ala461=) c.1352_1355delinsCTGA (p.Ala451=) | |
| 5 | g.139325544T>A | CA446793640 | MATR3 | c.2253T>A (p.Ala751=) c.2397T>A (p.Ala799=) n.1706T>A c.1239T>A (p.Ala413=) c.1389T>A (p.Ala463=) n.5973T>A n.431T>A c.561T>A (p.Ala187=) c.1392T>A (p.Ala464=) c.1383T>A (p.Ala461=) c.1353T>A (p.Ala451=) | |
| 5 | g.139325544T>C | CA446793642 | MATR3 | c.2253T>C (p.Ala751=) c.2397T>C (p.Ala799=) n.1706T>C c.1239T>C (p.Ala413=) c.1389T>C (p.Ala463=) n.5973T>C n.431T>C c.561T>C (p.Ala187=) c.1392T>C (p.Ala464=) c.1383T>C (p.Ala461=) c.1353T>C (p.Ala451=) | |
| 5 | g.139325544T>G | CA446793643 | MATR3 | c.2253T>G (p.Ala751=) c.2397T>G (p.Ala799=) n.1706T>G c.1239T>G (p.Ala413=) c.1389T>G (p.Ala463=) n.5973T>G n.431T>G c.561T>G (p.Ala187=) c.1392T>G (p.Ala464=) c.1383T>G (p.Ala461=) c.1353T>G (p.Ala451=) | |
| 5 | g.139325548_139325550del | CA128241063 | MATR3 | c.2257_2259del (p.Asp753del) c.2401_2403del (p.Asp801del) n.1710_1712del c.1243_1245del (p.Asp415del) c.1393_1395del (p.Asp465del) n.5977_5979del n.435_437del c.565_567del (p.Asp189del) c.1396_1398del (p.Asp466del) c.1387_1389del (p.Asp463del) c.1357_1359del (p.Asp453del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139325545G>A | CA361146351 | MATR3 | c.2254G>A (p.Asp752Asn) c.2398G>A (p.Asp800Asn) n.1707G>A c.1240G>A (p.Asp414Asn) c.1390G>A (p.Asp464Asn) n.5974G>A n.432G>A c.562G>A (p.Asp188Asn) c.1393G>A (p.Asp465Asn) c.1384G>A (p.Asp462Asn) c.1354G>A (p.Asp452Asn) | |
| 5 | g.139325545G>C | CA361146352 | MATR3 | c.2254G>C (p.Asp752His) c.2398G>C (p.Asp800His) n.1707G>C c.1240G>C (p.Asp414His) c.1390G>C (p.Asp464His) n.5974G>C n.432G>C c.562G>C (p.Asp188His) c.1393G>C (p.Asp465His) c.1384G>C (p.Asp462His) c.1354G>C (p.Asp452His) | |
| 5 | g.139325545G>T | CA361146354 | MATR3 | c.2254G>T (p.Asp752Tyr) c.2398G>T (p.Asp800Tyr) n.1707G>T c.1240G>T (p.Asp414Tyr) c.1390G>T (p.Asp464Tyr) n.5974G>T n.432G>T c.562G>T (p.Asp188Tyr) c.1393G>T (p.Asp465Tyr) c.1384G>T (p.Asp462Tyr) c.1354G>T (p.Asp452Tyr) | gnomAD v4 |
| 5 | g.139325546A>C | CA361146359 | MATR3 | c.2255A>C (p.Asp752Ala) c.2399A>C (p.Asp800Ala) n.1708A>C c.1241A>C (p.Asp414Ala) c.1391A>C (p.Asp464Ala) n.5975A>C n.433A>C c.563A>C (p.Asp188Ala) c.1394A>C (p.Asp465Ala) c.1385A>C (p.Asp462Ala) c.1355A>C (p.Asp452Ala) | gnomAD v4 |
| 5 | g.139325546A>G | CA361146356 | MATR3 | c.2255A>G (p.Asp752Gly) c.2399A>G (p.Asp800Gly) n.1708A>G c.1241A>G (p.Asp414Gly) c.1391A>G (p.Asp464Gly) n.5975A>G n.433A>G c.563A>G (p.Asp188Gly) c.1394A>G (p.Asp465Gly) c.1385A>G (p.Asp462Gly) c.1355A>G (p.Asp452Gly) | |
| 5 | g.139325546A>T | CA361146358 | MATR3 | c.2255A>T (p.Asp752Val) c.2399A>T (p.Asp800Val) n.1708A>T c.1241A>T (p.Asp414Val) c.1391A>T (p.Asp464Val) n.5975A>T n.433A>T c.563A>T (p.Asp188Val) c.1394A>T (p.Asp465Val) c.1385A>T (p.Asp462Val) c.1355A>T (p.Asp452Val) |