Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36222865_36222868delCA2689945671CLTA,GNEc.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
9g.36222865_36222867delinsGTCCA1846333430CLTA,GNEc.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=)
9g.36222866T>ACA373426374CLTA,GNEc.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)
9g.36222866T>CCA373426376CLTA,GNEc.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)
9g.36222866T>GCA373426378CLTA,GNEc.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)
9g.36222867_36222868delCA16041311CLTA,GNEc.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
9g.36222866_36222869delCA2695206256CLTA,GNEc.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?)
9g.36222867C>ACA373426383CLTA,GNEc.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)
9g.36222867C>GCA373426385CLTA,GNEc.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)
9g.36222867C>TCA373426386CLTA,GNEc.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)
9g.36222868T>ACA464495203CLTA,GNEc.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=)
9g.36222868T>CCA464495202CLTA,GNEc.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=)
9g.36222868T>GCA464495201CLTA,GNEc.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=)
9g.36222868dupCA2579338360CLTA,GNEc.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
9g.36222869A=CA1846333439CLTA,GNEc.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=)
9g.36222869A>CCA373426388CLTA,GNEc.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)
9g.36222869A>GCA373426390CLTA,GNEc.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
9g.36222869A>TCA373426392CLTA,GNEc.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)
9g.36222870C>ACA373426397CLTA,GNEc.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)
9g.36222870C>GCA373426396CLTA,GNEc.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)
9g.36222870C>TCA373426394CLTA,GNEc.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)
9g.36222871C>ACA373426399CLTA,GNEc.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)
9g.36222871C=CA1846333443CLTA,GNEc.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=)
9g.36222871C>GCA373426401CLTA,GNEc.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)
9g.36222871C>TCA373426403CLTA,GNEc.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
9g.36222872C>ACA373426404CLTA,GNEc.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
9g.36222872C>GCA373426406CLTA,GNEc.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)
9g.36222872C>TCA373426408CLTA,GNEc.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)
9g.36222873A>CCA373426410CLTA,GNEc.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)
9g.36222873A>GCA373426411CLTA,GNEc.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)
9g.36222873A>TCA373426413CLTA,GNEc.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)
9g.36222874C>ACA464495206CLTA,GNEc.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=)
9g.36222874C>GCA464495204CLTA,GNEc.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=)
9g.36222874C>TCA464495205CLTA,GNEc.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
9g.36222875A>CCA373426415CLTA,GNEc.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)
9g.36222875A>GCA373426416CLTA,GNEc.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)
9g.36222875A>TCA373426418CLTA,GNEc.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)
9g.36222876C>ACA373426423CLTA,GNEc.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
9g.36222876C=CA1846333449CLTA,GNEc.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=)
9g.36222876C>GCA373426425CLTA,GNEc.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)
9g.36222876C>TCA373426421CLTA,GNEc.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
9g.36222877A=CA1846333461CLTA,GNEc.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=)
9g.36222877A>CCA464495207CLTA,GNEc.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=)
9g.36222877A>GCA464495208CLTA,GNEc.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=)
9g.36222877A>TCA464495209CLTA,GNEc.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
9g.36222877_36222878delCA2579338370CLTA,GNEc.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
9g.36222877_36222878delinsAGCA1846333457CLTA,GNEc.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=)
9g.36222877_36222878delinsTTCA1846333458CLTA,GNEc.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
9g.36222878G>ACA373426428CLTA,GNEc.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
9g.36222878G>CCA373426430CLTA,GNEc.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)

Number of alleles fetched