Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36222865_36222868del | CA2689945671 | CLTA,GNE | c.1636_1639del (p.Asp546MetfsTer?) c.1366_1369del (p.Asp456MetfsTer?) c.1543_1546del (p.Asp515MetfsTer?) c.1411+506_1411+509del (n.1411+506_1411+509del) c.485+18686_485+18689del (n.485+18686_485+18689del) c.1213_1216del (p.Asp405MetfsTer?) c.1528_1531del (p.Asp510MetfsTer?) c.1483_1486del (p.Asp495MetfsTer?) c.1390_1393del (p.Asp464MetfsTer?) | gnomAD v4 |
9 | g.36222865_36222867delinsGTC | CA1846333430 | CLTA,GNE | c.1636_1638delinsGAC (p.Asp546=) c.1366_1368delinsGAC (p.Asp456=) c.1543_1545delinsGAC (p.Asp515=) c.1411+506_1411+508delinsGAC (n.1411+506_1411+508delinsGAC) c.485+18686_485+18688delinsGTC (n.485+18686_485+18688delinsGTC) c.1213_1215delinsGAC (p.Asp405=) c.1528_1530delinsGAC (p.Asp510=) c.1483_1485delinsGAC (p.Asp495=) c.1390_1392delinsGAC (p.Asp464=) | |
9 | g.36222866T>A | CA373426374 | CLTA,GNE | c.1637A>T (p.Asp546Val) c.1367A>T (p.Asp456Val) c.1544A>T (p.Asp515Val) c.1411+507A>T (n.1411+507A>T) c.485+18687T>A (n.485+18687T>A) c.1214A>T (p.Asp405Val) c.1529A>T (p.Asp510Val) c.1484A>T (p.Asp495Val) c.1391A>T (p.Asp464Val) | |
9 | g.36222866T>C | CA373426376 | CLTA,GNE | c.1637A>G (p.Asp546Gly) c.1367A>G (p.Asp456Gly) c.1544A>G (p.Asp515Gly) c.1411+507A>G (n.1411+507A>G) c.485+18687T>C (n.485+18687T>C) c.1214A>G (p.Asp405Gly) c.1529A>G (p.Asp510Gly) c.1484A>G (p.Asp495Gly) c.1391A>G (p.Asp464Gly) | |
9 | g.36222866T>G | CA373426378 | CLTA,GNE | c.1637A>C (p.Asp546Ala) c.1367A>C (p.Asp456Ala) c.1544A>C (p.Asp515Ala) c.1411+507A>C (n.1411+507A>C) c.485+18687T>G (n.485+18687T>G) c.1214A>C (p.Asp405Ala) c.1529A>C (p.Asp510Ala) c.1484A>C (p.Asp495Ala) c.1391A>C (p.Asp464Ala) | |
9 | g.36222867_36222868del | CA16041311 | CLTA,GNE | c.1636_1637del (p.Asp546GlnfsTer2) c.1366_1367del (p.Asp456GlnfsTer2) c.1543_1544del (p.Asp515GlnfsTer2) c.1411+506_1411+507del (n.1411+506_1411+507del) c.485+18688_485+18689del (n.485+18688_485+18689del) c.1213_1214del (p.Asp405GlnfsTer2) c.1528_1529del (p.Asp510GlnfsTer2) c.1483_1484del (p.Asp495GlnfsTer2) c.1390_1391del (p.Asp464GlnfsTer2) | ClinVar dbSNP |
9 | g.36222866_36222869del | CA2695206256 | CLTA,GNE | c.1634_1637del (p.Val545AlafsTer?) c.1364_1367del (p.Val455AlafsTer?) c.1541_1544del (p.Val514AlafsTer?) c.1411+504_1411+507del (n.1411+504_1411+507del) c.485+18687_485+18690del (n.485+18687_485+18690del) c.1211_1214del (p.Val404AlafsTer?) c.1526_1529del (p.Val509AlafsTer?) c.1481_1484del (p.Val494AlafsTer?) c.1388_1391del (p.Val463AlafsTer?) | |
9 | g.36222867C>A | CA373426383 | CLTA,GNE | c.1636G>T (p.Asp546Tyr) c.1366G>T (p.Asp456Tyr) c.1543G>T (p.Asp515Tyr) c.1411+506G>T (n.1411+506G>T) c.485+18688C>A (n.485+18688C>A) c.1213G>T (p.Asp405Tyr) c.1528G>T (p.Asp510Tyr) c.1483G>T (p.Asp495Tyr) c.1390G>T (p.Asp464Tyr) | |
9 | g.36222867C>G | CA373426385 | CLTA,GNE | c.1636G>C (p.Asp546His) c.1366G>C (p.Asp456His) c.1543G>C (p.Asp515His) c.1411+506G>C (n.1411+506G>C) c.485+18688C>G (n.485+18688C>G) c.1213G>C (p.Asp405His) c.1528G>C (p.Asp510His) c.1483G>C (p.Asp495His) c.1390G>C (p.Asp464His) | |
9 | g.36222867C>T | CA373426386 | CLTA,GNE | c.1636G>A (p.Asp546Asn) c.1366G>A (p.Asp456Asn) c.1543G>A (p.Asp515Asn) c.1411+506G>A (n.1411+506G>A) c.485+18688C>T (n.485+18688C>T) c.1213G>A (p.Asp405Asn) c.1528G>A (p.Asp510Asn) c.1483G>A (p.Asp495Asn) c.1390G>A (p.Asp464Asn) | |
9 | g.36222868T>A | CA464495203 | CLTA,GNE | c.1635A>T (p.Val545=) c.1365A>T (p.Val455=) c.1542A>T (p.Val514=) c.1411+505A>T (n.1411+505A>T) c.485+18689T>A (n.485+18689T>A) c.1212A>T (p.Val404=) c.1527A>T (p.Val509=) c.1482A>T (p.Val494=) c.1389A>T (p.Val463=) | |
9 | g.36222868T>C | CA464495202 | CLTA,GNE | c.1635A>G (p.Val545=) c.1365A>G (p.Val455=) c.1542A>G (p.Val514=) c.1411+505A>G (n.1411+505A>G) c.485+18689T>C (n.485+18689T>C) c.1212A>G (p.Val404=) c.1527A>G (p.Val509=) c.1482A>G (p.Val494=) c.1389A>G (p.Val463=) | |
9 | g.36222868T>G | CA464495201 | CLTA,GNE | c.1635A>C (p.Val545=) c.1365A>C (p.Val455=) c.1542A>C (p.Val514=) c.1411+505A>C (n.1411+505A>C) c.485+18689T>G (n.485+18689T>G) c.1212A>C (p.Val404=) c.1527A>C (p.Val509=) c.1482A>C (p.Val494=) c.1389A>C (p.Val463=) | |
9 | g.36222868dup | CA2579338360 | CLTA,GNE | c.1635dup (p.Asp546ArgfsTer3) c.1365dup (p.Asp456ArgfsTer3) c.1542dup (p.Asp515ArgfsTer3) c.1411+505dup (n.1411+505dup) c.485+18689dup (n.485+18689dup) c.1212dup (p.Asp405ArgfsTer3) c.1527dup (p.Asp510ArgfsTer3) c.1482dup (p.Asp495ArgfsTer3) c.1389dup (p.Asp464ArgfsTer3) | gnomAD v4 |
9 | g.36222869A= | CA1846333439 | CLTA,GNE | c.1634T= (p.Val545=) c.1364T= (p.Val455=) c.1541T= (p.Val514=) c.1411+504T= (n.1411+504T=) c.485+18690A= (n.485+18690A=) c.1211T= (p.Val404=) c.1526T= (p.Val509=) c.1481T= (p.Val494=) c.1388T= (p.Val463=) | |
9 | g.36222869A>C | CA373426388 | CLTA,GNE | c.1634T>G (p.Val545Gly) c.1364T>G (p.Val455Gly) c.1541T>G (p.Val514Gly) c.1411+504T>G (n.1411+504T>G) c.485+18690A>C (n.485+18690A>C) c.1211T>G (p.Val404Gly) c.1526T>G (p.Val509Gly) c.1481T>G (p.Val494Gly) c.1388T>G (p.Val463Gly) | |
9 | g.36222869A>G | CA373426390 | CLTA,GNE | c.1634T>C (p.Val545Ala) c.1364T>C (p.Val455Ala) c.1541T>C (p.Val514Ala) c.1411+504T>C (n.1411+504T>C) c.485+18690A>G (n.485+18690A>G) c.1211T>C (p.Val404Ala) c.1526T>C (p.Val509Ala) c.1481T>C (p.Val494Ala) c.1388T>C (p.Val463Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222869A>T | CA373426392 | CLTA,GNE | c.1634T>A (p.Val545Glu) c.1364T>A (p.Val455Glu) c.1541T>A (p.Val514Glu) c.1411+504T>A (n.1411+504T>A) c.485+18690A>T (n.485+18690A>T) c.1211T>A (p.Val404Glu) c.1526T>A (p.Val509Glu) c.1481T>A (p.Val494Glu) c.1388T>A (p.Val463Glu) | |
9 | g.36222870C>A | CA373426397 | CLTA,GNE | c.1633G>T (p.Val545Leu) c.1363G>T (p.Val455Leu) c.1540G>T (p.Val514Leu) c.1411+503G>T (n.1411+503G>T) c.485+18691C>A (n.485+18691C>A) c.1210G>T (p.Val404Leu) c.1525G>T (p.Val509Leu) c.1480G>T (p.Val494Leu) c.1387G>T (p.Val463Leu) | |
9 | g.36222870C>G | CA373426396 | CLTA,GNE | c.1633G>C (p.Val545Leu) c.1363G>C (p.Val455Leu) c.1540G>C (p.Val514Leu) c.1411+503G>C (n.1411+503G>C) c.485+18691C>G (n.485+18691C>G) c.1210G>C (p.Val404Leu) c.1525G>C (p.Val509Leu) c.1480G>C (p.Val494Leu) c.1387G>C (p.Val463Leu) | |
9 | g.36222870C>T | CA373426394 | CLTA,GNE | c.1633G>A (p.Val545Ile) c.1363G>A (p.Val455Ile) c.1540G>A (p.Val514Ile) c.1411+503G>A (n.1411+503G>A) c.485+18691C>T (n.485+18691C>T) c.1210G>A (p.Val404Ile) c.1525G>A (p.Val509Ile) c.1480G>A (p.Val494Ile) c.1387G>A (p.Val463Ile) | |
9 | g.36222871C>A | CA373426399 | CLTA,GNE | c.1632G>T (p.Trp544Cys) c.1362G>T (p.Trp454Cys) c.1539G>T (p.Trp513Cys) c.1411+502G>T (n.1411+502G>T) c.485+18692C>A (n.485+18692C>A) c.1209G>T (p.Trp403Cys) c.1524G>T (p.Trp508Cys) c.1479G>T (p.Trp493Cys) c.1386G>T (p.Trp462Cys) | |
9 | g.36222871C= | CA1846333443 | CLTA,GNE | c.1632G= (p.Trp544=) c.1362G= (p.Trp454=) c.1539G= (p.Trp513=) c.1411+502G= (n.1411+502G=) c.485+18692C= (n.485+18692C=) c.1209G= (p.Trp403=) c.1524G= (p.Trp508=) c.1479G= (p.Trp493=) c.1386G= (p.Trp462=) | |
9 | g.36222871C>G | CA373426401 | CLTA,GNE | c.1632G>C (p.Trp544Cys) c.1362G>C (p.Trp454Cys) c.1539G>C (p.Trp513Cys) c.1411+502G>C (n.1411+502G>C) c.485+18692C>G (n.485+18692C>G) c.1209G>C (p.Trp403Cys) c.1524G>C (p.Trp508Cys) c.1479G>C (p.Trp493Cys) c.1386G>C (p.Trp462Cys) | |
9 | g.36222871C>T | CA373426403 | CLTA,GNE | c.1632G>A (p.Trp544Ter) c.1362G>A (p.Trp454Ter) c.1539G>A (p.Trp513Ter) c.1411+502G>A (n.1411+502G>A) c.485+18692C>T (n.485+18692C>T) c.1209G>A (p.Trp403Ter) c.1524G>A (p.Trp508Ter) c.1479G>A (p.Trp493Ter) c.1386G>A (p.Trp462Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.36222872C>A | CA373426404 | CLTA,GNE | c.1631G>T (p.Trp544Leu) c.1361G>T (p.Trp454Leu) c.1538G>T (p.Trp513Leu) c.1411+501G>T (n.1411+501G>T) c.485+18693C>A (n.485+18693C>A) c.1208G>T (p.Trp403Leu) c.1523G>T (p.Trp508Leu) c.1478G>T (p.Trp493Leu) c.1385G>T (p.Trp462Leu) | ClinVar dbSNP |
9 | g.36222872C>G | CA373426406 | CLTA,GNE | c.1631G>C (p.Trp544Ser) c.1361G>C (p.Trp454Ser) c.1538G>C (p.Trp513Ser) c.1411+501G>C (n.1411+501G>C) c.485+18693C>G (n.485+18693C>G) c.1208G>C (p.Trp403Ser) c.1523G>C (p.Trp508Ser) c.1478G>C (p.Trp493Ser) c.1385G>C (p.Trp462Ser) | |
9 | g.36222872C>T | CA373426408 | CLTA,GNE | c.1631G>A (p.Trp544Ter) c.1361G>A (p.Trp454Ter) c.1538G>A (p.Trp513Ter) c.1411+501G>A (n.1411+501G>A) c.485+18693C>T (n.485+18693C>T) c.1208G>A (p.Trp403Ter) c.1523G>A (p.Trp508Ter) c.1478G>A (p.Trp493Ter) c.1385G>A (p.Trp462Ter) | |
9 | g.36222873A>C | CA373426410 | CLTA,GNE | c.1630T>G (p.Trp544Gly) c.1360T>G (p.Trp454Gly) c.1537T>G (p.Trp513Gly) c.1411+500T>G (n.1411+500T>G) c.485+18694A>C (n.485+18694A>C) c.1207T>G (p.Trp403Gly) c.1522T>G (p.Trp508Gly) c.1477T>G (p.Trp493Gly) c.1384T>G (p.Trp462Gly) | |
9 | g.36222873A>G | CA373426411 | CLTA,GNE | c.1630T>C (p.Trp544Arg) c.1360T>C (p.Trp454Arg) c.1537T>C (p.Trp513Arg) c.1411+500T>C (n.1411+500T>C) c.485+18694A>G (n.485+18694A>G) c.1207T>C (p.Trp403Arg) c.1522T>C (p.Trp508Arg) c.1477T>C (p.Trp493Arg) c.1384T>C (p.Trp462Arg) | |
9 | g.36222873A>T | CA373426413 | CLTA,GNE | c.1630T>A (p.Trp544Arg) c.1360T>A (p.Trp454Arg) c.1537T>A (p.Trp513Arg) c.1411+500T>A (n.1411+500T>A) c.485+18694A>T (n.485+18694A>T) c.1207T>A (p.Trp403Arg) c.1522T>A (p.Trp508Arg) c.1477T>A (p.Trp493Arg) c.1384T>A (p.Trp462Arg) | |
9 | g.36222874C>A | CA464495206 | CLTA,GNE | c.1629G>T (p.Val543=) c.1359G>T (p.Val453=) c.1536G>T (p.Val512=) c.1411+499G>T (n.1411+499G>T) c.485+18695C>A (n.485+18695C>A) c.1206G>T (p.Val402=) c.1521G>T (p.Val507=) c.1476G>T (p.Val492=) c.1383G>T (p.Val461=) | |
9 | g.36222874C>G | CA464495204 | CLTA,GNE | c.1629G>C (p.Val543=) c.1359G>C (p.Val453=) c.1536G>C (p.Val512=) c.1411+499G>C (n.1411+499G>C) c.485+18695C>G (n.485+18695C>G) c.1206G>C (p.Val402=) c.1521G>C (p.Val507=) c.1476G>C (p.Val492=) c.1383G>C (p.Val461=) | |
9 | g.36222874C>T | CA464495205 | CLTA,GNE | c.1629G>A (p.Val543=) c.1359G>A (p.Val453=) c.1536G>A (p.Val512=) c.1411+499G>A (n.1411+499G>A) c.485+18695C>T (n.485+18695C>T) c.1206G>A (p.Val402=) c.1521G>A (p.Val507=) c.1476G>A (p.Val492=) c.1383G>A (p.Val461=) | gnomAD v4 |
9 | g.36222875A>C | CA373426415 | CLTA,GNE | c.1628T>G (p.Val543Gly) c.1358T>G (p.Val453Gly) c.1535T>G (p.Val512Gly) c.1411+498T>G (n.1411+498T>G) c.485+18696A>C (n.485+18696A>C) c.1205T>G (p.Val402Gly) c.1520T>G (p.Val507Gly) c.1475T>G (p.Val492Gly) c.1382T>G (p.Val461Gly) | |
9 | g.36222875A>G | CA373426416 | CLTA,GNE | c.1628T>C (p.Val543Ala) c.1358T>C (p.Val453Ala) c.1535T>C (p.Val512Ala) c.1411+498T>C (n.1411+498T>C) c.485+18696A>G (n.485+18696A>G) c.1205T>C (p.Val402Ala) c.1520T>C (p.Val507Ala) c.1475T>C (p.Val492Ala) c.1382T>C (p.Val461Ala) | |
9 | g.36222875A>T | CA373426418 | CLTA,GNE | c.1628T>A (p.Val543Glu) c.1358T>A (p.Val453Glu) c.1535T>A (p.Val512Glu) c.1411+498T>A (n.1411+498T>A) c.485+18696A>T (n.485+18696A>T) c.1205T>A (p.Val402Glu) c.1520T>A (p.Val507Glu) c.1475T>A (p.Val492Glu) c.1382T>A (p.Val461Glu) | |
9 | g.36222876C>A | CA373426423 | CLTA,GNE | c.1627G>T (p.Val543Leu) c.1357G>T (p.Val453Leu) c.1534G>T (p.Val512Leu) c.1411+497G>T (n.1411+497G>T) c.485+18697C>A (n.485+18697C>A) c.1204G>T (p.Val402Leu) c.1519G>T (p.Val507Leu) c.1474G>T (p.Val492Leu) c.1381G>T (p.Val461Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.36222876C= | CA1846333449 | CLTA,GNE | c.1627G= (p.Val543=) c.1357G= (p.Val453=) c.1534G= (p.Val512=) c.1411+497G= (n.1411+497G=) c.485+18697C= (n.485+18697C=) c.1204G= (p.Val402=) c.1519G= (p.Val507=) c.1474G= (p.Val492=) c.1381G= (p.Val461=) | |
9 | g.36222876C>G | CA373426425 | CLTA,GNE | c.1627G>C (p.Val543Leu) c.1357G>C (p.Val453Leu) c.1534G>C (p.Val512Leu) c.1411+497G>C (n.1411+497G>C) c.485+18697C>G (n.485+18697C>G) c.1204G>C (p.Val402Leu) c.1519G>C (p.Val507Leu) c.1474G>C (p.Val492Leu) c.1381G>C (p.Val461Leu) | |
9 | g.36222876C>T | CA373426421 | CLTA,GNE | c.1627G>A (p.Val543Met) c.1357G>A (p.Val453Met) c.1534G>A (p.Val512Met) c.1411+497G>A (n.1411+497G>A) c.485+18697C>T (n.485+18697C>T) c.1204G>A (p.Val402Met) c.1519G>A (p.Val507Met) c.1474G>A (p.Val492Met) c.1381G>A (p.Val461Met) | dbSNP gnomAD v4 |
9 | g.36222877A= | CA1846333461 | CLTA,GNE | c.1626T= (p.Pro542=) c.1356T= (p.Pro452=) c.1533T= (p.Pro511=) c.1411+496T= (n.1411+496T=) c.485+18698A= (n.485+18698A=) c.1203T= (p.Pro401=) c.1518T= (p.Pro506=) c.1473T= (p.Pro491=) c.1380T= (p.Pro460=) | |
9 | g.36222877A>C | CA464495207 | CLTA,GNE | c.1626T>G (p.Pro542=) c.1356T>G (p.Pro452=) c.1533T>G (p.Pro511=) c.1411+496T>G (n.1411+496T>G) c.485+18698A>C (n.485+18698A>C) c.1203T>G (p.Pro401=) c.1518T>G (p.Pro506=) c.1473T>G (p.Pro491=) c.1380T>G (p.Pro460=) | |
9 | g.36222877A>G | CA464495208 | CLTA,GNE | c.1626T>C (p.Pro542=) c.1356T>C (p.Pro452=) c.1533T>C (p.Pro511=) c.1411+496T>C (n.1411+496T>C) c.485+18698A>G (n.485+18698A>G) c.1203T>C (p.Pro401=) c.1518T>C (p.Pro506=) c.1473T>C (p.Pro491=) c.1380T>C (p.Pro460=) | |
9 | g.36222877A>T | CA464495209 | CLTA,GNE | c.1626T>A (p.Pro542=) c.1356T>A (p.Pro452=) c.1533T>A (p.Pro511=) c.1411+496T>A (n.1411+496T>A) c.485+18698A>T (n.485+18698A>T) c.1203T>A (p.Pro401=) c.1518T>A (p.Pro506=) c.1473T>A (p.Pro491=) c.1380T>A (p.Pro460=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222877_36222878del | CA2579338370 | CLTA,GNE | c.1625_1626del (p.Pro542ArgfsTer6) c.1355_1356del (p.Pro452ArgfsTer6) c.1532_1533del (p.Pro511ArgfsTer6) c.1411+495_1411+496del (n.1411+495_1411+496del) c.485+18698_485+18699del (n.485+18698_485+18699del) c.1202_1203del (p.Pro401ArgfsTer6) c.1517_1518del (p.Pro506ArgfsTer6) c.1472_1473del (p.Pro491ArgfsTer6) c.1379_1380del (p.Pro460ArgfsTer6) | gnomAD v4 |
9 | g.36222877_36222878delinsAG | CA1846333457 | CLTA,GNE | c.1625_1626delinsCT (p.Pro542=) c.1355_1356delinsCT (p.Pro452=) c.1532_1533delinsCT (p.Pro511=) c.1411+495_1411+496delinsCT (n.1411+495_1411+496delinsCT) c.485+18698_485+18699delinsAG (n.485+18698_485+18699delinsAG) c.1202_1203delinsCT (p.Pro401=) c.1517_1518delinsCT (p.Pro506=) c.1472_1473delinsCT (p.Pro491=) c.1379_1380delinsCT (p.Pro460=) | |
9 | g.36222877_36222878delinsTT | CA1846333458 | CLTA,GNE | c.1625_1626delinsAA (p.Pro542Gln) c.1355_1356delinsAA (p.Pro452Gln) c.1532_1533delinsAA (p.Pro511Gln) c.1411+495_1411+496delinsAA (n.1411+495_1411+496delinsAA) c.485+18698_485+18699delinsTT (n.485+18698_485+18699delinsTT) c.1202_1203delinsAA (p.Pro401Gln) c.1517_1518delinsAA (p.Pro506Gln) c.1472_1473delinsAA (p.Pro491Gln) c.1379_1380delinsAA (p.Pro460Gln) | ClinVar dbSNP |
9 | g.36222878G>A | CA373426428 | CLTA,GNE | c.1625C>T (p.Pro542Leu) c.1355C>T (p.Pro452Leu) c.1532C>T (p.Pro511Leu) c.1411+495C>T (n.1411+495C>T) c.485+18699G>A (n.485+18699G>A) c.1202C>T (p.Pro401Leu) c.1517C>T (p.Pro506Leu) c.1472C>T (p.Pro491Leu) c.1379C>T (p.Pro460Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36222878G>C | CA373426430 | CLTA,GNE | c.1625C>G (p.Pro542Arg) c.1355C>G (p.Pro452Arg) c.1532C>G (p.Pro511Arg) c.1411+495C>G (n.1411+495C>G) c.485+18699G>C (n.485+18699G>C) c.1202C>G (p.Pro401Arg) c.1517C>G (p.Pro506Arg) c.1472C>G (p.Pro491Arg) c.1379C>G (p.Pro460Arg) |