Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112821894_112829116delCA2499217432APCc.1313-2_1743+144del
c.1259-2_1689+144del
c.*635-2_*1065+144del
c.1313-2_1797+144del
c.1343-2_1773+144del
c.1238-2_1668+144del
c.1229-2_1659+144del
c.1136-2_1620+144del
c.1136-2_1566+144del
c.1040-2_1470+144del
c.1010-2_1440+144del
c.935-2_1365+144del
c.833-2_1263+144del
c.464-2_894+144del
ClinVar
5g.112828864G>ACA005411APCc.1635G>A (p.Ala545=)
n.97-6087G>A
n.324G>A (p.Ala108=)
n.122G>A
c.1581G>A (p.Ala527=)
c.*957G>A (n.*957G>A)
c.1689G>A (p.Ala563=)
c.1665G>A (p.Ala555=)
c.1560G>A (p.Ala520=)
c.1551G>A (p.Ala517=)
c.1512G>A (p.Ala504=)
c.1458G>A (p.Ala486=)
c.1362G>A (p.Ala454=)
c.1332G>A (p.Ala444=)
c.1257G>A (p.Ala419=)
c.1155G>A (p.Ala385=)
c.786G>A (p.Ala262=)
ClinVar dbSNP ExAC gnomAD
5g.112828864G>CCA445757372APCc.1635G>C (p.Ala545=)
n.97-6087G>C
n.324G>C (p.Ala108=)
n.122G>C
c.1581G>C (p.Ala527=)
c.*957G>C (n.*957G>C)
c.1689G>C (p.Ala563=)
c.1665G>C (p.Ala555=)
c.1560G>C (p.Ala520=)
c.1551G>C (p.Ala517=)
c.1512G>C (p.Ala504=)
c.1458G>C (p.Ala486=)
c.1362G>C (p.Ala454=)
c.1332G>C (p.Ala444=)
c.1257G>C (p.Ala419=)
c.1155G>C (p.Ala385=)
c.786G>C (p.Ala262=)
5g.112828864G=CA1573508589APCc.1635G= (p.Ala545=)
n.97-6087G=
n.324G= (p.Ala108=)
n.122G=
c.1581G= (p.Ala527=)
c.*957G= (n.*957G=)
c.1689G= (p.Ala563=)
c.1665G= (p.Ala555=)
c.1560G= (p.Ala520=)
c.1551G= (p.Ala517=)
c.1512G= (p.Ala504=)
c.1458G= (p.Ala486=)
c.1362G= (p.Ala454=)
c.1332G= (p.Ala444=)
c.1257G= (p.Ala419=)
c.1155G= (p.Ala385=)
c.786G= (p.Ala262=)
5g.112828864G>TCA445757373APCc.1635G>T (p.Ala545=)
n.97-6087G>T
n.324G>T (p.Ala108=)
n.122G>T
c.1581G>T (p.Ala527=)
c.*957G>T (n.*957G>T)
c.1689G>T (p.Ala563=)
c.1665G>T (p.Ala555=)
c.1560G>T (p.Ala520=)
c.1551G>T (p.Ala517=)
c.1512G>T (p.Ala504=)
c.1458G>T (p.Ala486=)
c.1362G>T (p.Ala454=)
c.1332G>T (p.Ala444=)
c.1257G>T (p.Ala419=)
c.1155G>T (p.Ala385=)
c.786G>T (p.Ala262=)
ClinVar
5g.112828865_112828868delCA645562798APCc.1636_1639del (p.Ser546PhefsTer2)
n.97-6086_97-6083del
n.325_328del (p.Ser109PhefsTer2)
n.123_126del
c.1582_1585del (p.Ser528PhefsTer2)
c.*958_*961del (n.*958_*961del)
c.1690_1693del (p.Ser564PhefsTer2)
c.1666_1669del (p.Ser556PhefsTer2)
c.1561_1564del (p.Ser521PhefsTer2)
c.1552_1555del (p.Ser518PhefsTer2)
c.1513_1516del (p.Ser505PhefsTer2)
c.1459_1462del (p.Ser487PhefsTer2)
c.1363_1366del (p.Ser455PhefsTer2)
c.1333_1336del (p.Ser445PhefsTer2)
c.1258_1261del (p.Ser420PhefsTer2)
c.1156_1159del (p.Ser386PhefsTer2)
c.787_790del (p.Ser263PhefsTer2)
COSMIC
5g.112828865A>CCA16024880APCc.1636A>C (p.Ser546Arg)
n.97-6086A>C
n.325A>C (p.Ser109Arg)
n.123A>C
c.1582A>C (p.Ser528Arg)
c.*958A>C (n.*958A>C)
c.1690A>C (p.Ser564Arg)
c.1666A>C (p.Ser556Arg)
c.1561A>C (p.Ser521Arg)
c.1552A>C (p.Ser518Arg)
c.1513A>C (p.Ser505Arg)
c.1459A>C (p.Ser487Arg)
c.1363A>C (p.Ser455Arg)
c.1333A>C (p.Ser445Arg)
c.1258A>C (p.Ser420Arg)
c.1156A>C (p.Ser386Arg)
c.787A>C (p.Ser263Arg)
5g.112828865A>GCA16024881APCc.1636A>G (p.Ser546Gly)
n.97-6086A>G
n.325A>G (p.Ser109Gly)
n.123A>G
c.1582A>G (p.Ser528Gly)
c.*958A>G (n.*958A>G)
c.1690A>G (p.Ser564Gly)
c.1666A>G (p.Ser556Gly)
c.1561A>G (p.Ser521Gly)
c.1552A>G (p.Ser518Gly)
c.1513A>G (p.Ser505Gly)
c.1459A>G (p.Ser487Gly)
c.1363A>G (p.Ser455Gly)
c.1333A>G (p.Ser445Gly)
c.1258A>G (p.Ser420Gly)
c.1156A>G (p.Ser386Gly)
c.787A>G (p.Ser263Gly)
COSMIC
5g.112828865A>TCA16024882APCc.1636A>T (p.Ser546Cys)
n.97-6086A>T
n.325A>T (p.Ser109Cys)
n.123A>T
c.1582A>T (p.Ser528Cys)
c.*958A>T (n.*958A>T)
c.1690A>T (p.Ser564Cys)
c.1666A>T (p.Ser556Cys)
c.1561A>T (p.Ser521Cys)
c.1552A>T (p.Ser518Cys)
c.1513A>T (p.Ser505Cys)
c.1459A>T (p.Ser487Cys)
c.1363A>T (p.Ser455Cys)
c.1333A>T (p.Ser445Cys)
c.1258A>T (p.Ser420Cys)
c.1156A>T (p.Ser386Cys)
c.787A>T (p.Ser263Cys)
5g.112828866G>ACA16024883APCc.1637G>A (p.Ser546Asn)
n.97-6085G>A
n.326G>A (p.Ser109Asn)
n.124G>A
c.1583G>A (p.Ser528Asn)
c.*959G>A (n.*959G>A)
c.1691G>A (p.Ser564Asn)
c.1667G>A (p.Ser556Asn)
c.1562G>A (p.Ser521Asn)
c.1553G>A (p.Ser518Asn)
c.1514G>A (p.Ser505Asn)
c.1460G>A (p.Ser487Asn)
c.1364G>A (p.Ser455Asn)
c.1334G>A (p.Ser445Asn)
c.1259G>A (p.Ser420Asn)
c.1157G>A (p.Ser386Asn)
c.788G>A (p.Ser263Asn)
5g.112828866G>CCA16024884APCc.1637G>C (p.Ser546Thr)
n.97-6085G>C
n.326G>C (p.Ser109Thr)
n.124G>C
c.1583G>C (p.Ser528Thr)
c.*959G>C (n.*959G>C)
c.1691G>C (p.Ser564Thr)
c.1667G>C (p.Ser556Thr)
c.1562G>C (p.Ser521Thr)
c.1553G>C (p.Ser518Thr)
c.1514G>C (p.Ser505Thr)
c.1460G>C (p.Ser487Thr)
c.1364G>C (p.Ser455Thr)
c.1334G>C (p.Ser445Thr)
c.1259G>C (p.Ser420Thr)
c.1157G>C (p.Ser386Thr)
c.788G>C (p.Ser263Thr)
5g.112828866G=CA1573508596APCc.1637G= (p.Ser546=)
n.97-6085G=
n.326G= (p.Ser109=)
n.124G=
c.1583G= (p.Ser528=)
c.*959G= (n.*959G=)
c.1691G= (p.Ser564=)
c.1667G= (p.Ser556=)
c.1562G= (p.Ser521=)
c.1553G= (p.Ser518=)
c.1514G= (p.Ser505=)
c.1460G= (p.Ser487=)
c.1364G= (p.Ser455=)
c.1334G= (p.Ser445=)
c.1259G= (p.Ser420=)
c.1157G= (p.Ser386=)
c.788G= (p.Ser263=)
5g.112828866G>TCA16024885APCc.1637G>T (p.Ser546Ile)
n.97-6085G>T
n.326G>T (p.Ser109Ile)
n.124G>T
c.1583G>T (p.Ser528Ile)
c.*959G>T (n.*959G>T)
c.1691G>T (p.Ser564Ile)
c.1667G>T (p.Ser556Ile)
c.1562G>T (p.Ser521Ile)
c.1553G>T (p.Ser518Ile)
c.1514G>T (p.Ser505Ile)
c.1460G>T (p.Ser487Ile)
c.1364G>T (p.Ser455Ile)
c.1334G>T (p.Ser445Ile)
c.1259G>T (p.Ser420Ile)
c.1157G>T (p.Ser386Ile)
c.788G>T (p.Ser263Ile)
COSMIC
5g.112828867delCA2499217453APCc.1638del (p.Ser546ArgfsTer3)
n.97-6084del
n.327del (p.Ser109ArgfsTer3)
n.125del
c.1584del (p.Ser528ArgfsTer3)
c.*960del (n.*960del)
c.1692del (p.Ser564ArgfsTer3)
c.1668del (p.Ser556ArgfsTer3)
c.1563del (p.Ser521ArgfsTer3)
c.1554del (p.Ser518ArgfsTer3)
c.1515del (p.Ser505ArgfsTer3)
c.1461del (p.Ser487ArgfsTer3)
c.1365del (p.Ser455ArgfsTer3)
c.1335del (p.Ser445ArgfsTer3)
c.1260del (p.Ser420ArgfsTer3)
c.1158del (p.Ser386ArgfsTer3)
c.789del (p.Ser263ArgfsTer3)
ClinVar
5g.112828867T>ACA16024886APCc.1638T>A (p.Ser546Arg)
n.97-6084T>A
n.327T>A (p.Ser109Arg)
n.125T>A
c.1584T>A (p.Ser528Arg)
c.*960T>A (n.*960T>A)
c.1692T>A (p.Ser564Arg)
c.1668T>A (p.Ser556Arg)
c.1563T>A (p.Ser521Arg)
c.1554T>A (p.Ser518Arg)
c.1515T>A (p.Ser505Arg)
c.1461T>A (p.Ser487Arg)
c.1365T>A (p.Ser455Arg)
c.1335T>A (p.Ser445Arg)
c.1260T>A (p.Ser420Arg)
c.1158T>A (p.Ser386Arg)
c.789T>A (p.Ser263Arg)
5g.112828867T>CCA445757374APCc.1638T>C (p.Ser546=)
n.97-6084T>C
n.327T>C (p.Ser109=)
n.125T>C
c.1584T>C (p.Ser528=)
c.*960T>C (n.*960T>C)
c.1692T>C (p.Ser564=)
c.1668T>C (p.Ser556=)
c.1563T>C (p.Ser521=)
c.1554T>C (p.Ser518=)
c.1515T>C (p.Ser505=)
c.1461T>C (p.Ser487=)
c.1365T>C (p.Ser455=)
c.1335T>C (p.Ser445=)
c.1260T>C (p.Ser420=)
c.1158T>C (p.Ser386=)
c.789T>C (p.Ser263=)
ClinVar gnomAD
5g.112828867T>GCA16024887APCc.1638T>G (p.Ser546Arg)
n.97-6084T>G
n.327T>G (p.Ser109Arg)
n.125T>G
c.1584T>G (p.Ser528Arg)
c.*960T>G (n.*960T>G)
c.1692T>G (p.Ser564Arg)
c.1668T>G (p.Ser556Arg)
c.1563T>G (p.Ser521Arg)
c.1554T>G (p.Ser518Arg)
c.1515T>G (p.Ser505Arg)
c.1461T>G (p.Ser487Arg)
c.1365T>G (p.Ser455Arg)
c.1335T>G (p.Ser445Arg)
c.1260T>G (p.Ser420Arg)
c.1158T>G (p.Ser386Arg)
c.789T>G (p.Ser263Arg)
5g.112828867T=CA1573508603APCc.1638T= (p.Ser546=)
n.97-6084T=
n.327T= (p.Ser109=)
n.125T=
c.1584T= (p.Ser528=)
c.*960T= (n.*960T=)
c.1692T= (p.Ser564=)
c.1668T= (p.Ser556=)
c.1563T= (p.Ser521=)
c.1554T= (p.Ser518=)
c.1515T= (p.Ser505=)
c.1461T= (p.Ser487=)
c.1365T= (p.Ser455=)
c.1335T= (p.Ser445=)
c.1260T= (p.Ser420=)
c.1158T= (p.Ser386=)
c.789T= (p.Ser263=)
5g.112828868G>ACA16024888APCc.1639G>A (p.Val547Ile)
n.97-6083G>A
n.328G>A (p.Val110Ile)
n.126G>A
c.1585G>A (p.Val529Ile)
c.*961G>A (n.*961G>A)
c.1693G>A (p.Val565Ile)
c.1669G>A (p.Val557Ile)
c.1564G>A (p.Val522Ile)
c.1555G>A (p.Val519Ile)
c.1516G>A (p.Val506Ile)
c.1462G>A (p.Val488Ile)
c.1366G>A (p.Val456Ile)
c.1336G>A (p.Val446Ile)
c.1261G>A (p.Val421Ile)
c.1159G>A (p.Val387Ile)
c.790G>A (p.Val264Ile)
ClinVar
5g.112828868G>CCA16024889APCc.1639G>C (p.Val547Leu)
n.97-6083G>C
n.328G>C (p.Val110Leu)
n.126G>C
c.1585G>C (p.Val529Leu)
c.*961G>C (n.*961G>C)
c.1693G>C (p.Val565Leu)
c.1669G>C (p.Val557Leu)
c.1564G>C (p.Val522Leu)
c.1555G>C (p.Val519Leu)
c.1516G>C (p.Val506Leu)
c.1462G>C (p.Val488Leu)
c.1366G>C (p.Val456Leu)
c.1336G>C (p.Val446Leu)
c.1261G>C (p.Val421Leu)
c.1159G>C (p.Val387Leu)
c.790G>C (p.Val264Leu)
5g.112828868G=CA1573508610APCc.1639G= (p.Val547=)
n.97-6083G=
n.328G= (p.Val110=)
n.126G=
c.1585G= (p.Val529=)
c.*961G= (n.*961G=)
c.1693G= (p.Val565=)
c.1669G= (p.Val557=)
c.1564G= (p.Val522=)
c.1555G= (p.Val519=)
c.1516G= (p.Val506=)
c.1462G= (p.Val488=)
c.1366G= (p.Val456=)
c.1336G= (p.Val446=)
c.1261G= (p.Val421=)
c.1159G= (p.Val387=)
c.790G= (p.Val264=)
5g.112828868G>TCA16024890APCc.1639G>T (p.Val547Phe)
n.97-6083G>T
n.328G>T (p.Val110Phe)
n.126G>T
c.1585G>T (p.Val529Phe)
c.*961G>T (n.*961G>T)
c.1693G>T (p.Val565Phe)
c.1669G>T (p.Val557Phe)
c.1564G>T (p.Val522Phe)
c.1555G>T (p.Val519Phe)
c.1516G>T (p.Val506Phe)
c.1462G>T (p.Val488Phe)
c.1366G>T (p.Val456Phe)
c.1336G>T (p.Val446Phe)
c.1261G>T (p.Val421Phe)
c.1159G>T (p.Val387Phe)
c.790G>T (p.Val264Phe)
5g.112828868_112828869delinsGTCA1573508612APCc.1639_1640delinsGT (p.Val547=)
n.97-6083_97-6082delinsGT
n.328_329delinsGT (p.Val110=)
n.126_127delinsGT
c.1585_1586delinsGT (p.Val529=)
c.*961_*962delinsGT (n.*961_*962delinsGT)
c.1693_1694delinsGT (p.Val565=)
c.1669_1670delinsGT (p.Val557=)
c.1564_1565delinsGT (p.Val522=)
c.1555_1556delinsGT (p.Val519=)
c.1516_1517delinsGT (p.Val506=)
c.1462_1463delinsGT (p.Val488=)
c.1366_1367delinsGT (p.Val456=)
c.1336_1337delinsGT (p.Val446=)
c.1261_1262delinsGT (p.Val421=)
c.1159_1160delinsGT (p.Val387=)
c.790_791delinsGT (p.Val264=)
5g.112828869T>ACA16024891APCc.1640T>A (p.Val547Asp)
n.97-6082T>A
n.329T>A (p.Val110Asp)
n.127T>A
c.1586T>A (p.Val529Asp)
c.*962T>A (n.*962T>A)
c.1694T>A (p.Val565Asp)
c.1670T>A (p.Val557Asp)
c.1565T>A (p.Val522Asp)
c.1556T>A (p.Val519Asp)
c.1517T>A (p.Val506Asp)
c.1463T>A (p.Val488Asp)
c.1367T>A (p.Val456Asp)
c.1337T>A (p.Val446Asp)
c.1262T>A (p.Val421Asp)
c.1160T>A (p.Val387Asp)
c.791T>A (p.Val264Asp)
5g.112828869T>CCA16024892APCc.1640T>C (p.Val547Ala)
n.97-6082T>C
n.329T>C (p.Val110Ala)
n.127T>C
c.1586T>C (p.Val529Ala)
c.*962T>C (n.*962T>C)
c.1694T>C (p.Val565Ala)
c.1670T>C (p.Val557Ala)
c.1565T>C (p.Val522Ala)
c.1556T>C (p.Val519Ala)
c.1517T>C (p.Val506Ala)
c.1463T>C (p.Val488Ala)
c.1367T>C (p.Val456Ala)
c.1337T>C (p.Val446Ala)
c.1262T>C (p.Val421Ala)
c.1160T>C (p.Val387Ala)
c.791T>C (p.Val264Ala)
5g.112828869T>GCA16024893APCc.1640T>G (p.Val547Gly)
n.97-6082T>G
n.329T>G (p.Val110Gly)
n.127T>G
c.1586T>G (p.Val529Gly)
c.*962T>G (n.*962T>G)
c.1694T>G (p.Val565Gly)
c.1670T>G (p.Val557Gly)
c.1565T>G (p.Val522Gly)
c.1556T>G (p.Val519Gly)
c.1517T>G (p.Val506Gly)
c.1463T>G (p.Val488Gly)
c.1367T>G (p.Val456Gly)
c.1337T>G (p.Val446Gly)
c.1262T>G (p.Val421Gly)
c.1160T>G (p.Val387Gly)
c.791T>G (p.Val264Gly)
ClinVar
5g.112828869T=CA1573508629APCc.1640T= (p.Val547=)
n.97-6082T=
n.329T= (p.Val110=)
n.127T=
c.1586T= (p.Val529=)
c.*962T= (n.*962T=)
c.1694T= (p.Val565=)
c.1670T= (p.Val557=)
c.1565T= (p.Val522=)
c.1556T= (p.Val519=)
c.1517T= (p.Val506=)
c.1463T= (p.Val488=)
c.1367T= (p.Val456=)
c.1337T= (p.Val446=)
c.1262T= (p.Val421=)
c.1160T= (p.Val387=)
c.791T= (p.Val264=)
5g.112828872dupCA645562799APCc.1643dup (p.Leu548PhefsTer12)
n.97-6079dup
n.332dup (p.Leu111PhefsTer12)
n.130dup
c.1589dup (p.Leu530PhefsTer12)
c.*965dup (n.*965dup)
c.1697dup (p.Leu566PhefsTer12)
c.1673dup (p.Leu558PhefsTer12)
c.1568dup (p.Leu523PhefsTer12)
c.1559dup (p.Leu520PhefsTer12)
c.1520dup (p.Leu507PhefsTer12)
c.1466dup (p.Leu489PhefsTer12)
c.1370dup (p.Leu457PhefsTer12)
c.1340dup (p.Leu447PhefsTer12)
c.1265dup (p.Leu422PhefsTer12)
c.1163dup (p.Leu388PhefsTer12)
c.794dup (p.Leu265PhefsTer12)
ClinVar dbSNP COSMIC
5g.112828872delCA445757375APCc.1643del (p.Leu548Ter)
n.97-6079del
n.332del (p.Leu111Ter)
n.130del
c.1589del (p.Leu530Ter)
c.*965del (n.*965del)
c.1697del (p.Leu566Ter)
c.1673del (p.Leu558Ter)
c.1568del (p.Leu523Ter)
c.1559del (p.Leu520Ter)
c.1520del (p.Leu507Ter)
c.1466del (p.Leu489Ter)
c.1370del (p.Leu457Ter)
c.1340del (p.Leu447Ter)
c.1265del (p.Leu422Ter)
c.1163del (p.Leu388Ter)
c.794del (p.Leu265Ter)
ClinVar dbSNP COSMIC
5g.112828869_112828870insGCA802039915APCc.1640_1641insG (p.Leu548PhefsTer12)
n.97-6082_97-6081insG
n.329_330insG (p.Leu111PhefsTer12)
n.127_128insG
c.1586_1587insG (p.Leu530PhefsTer12)
c.*962_*963insG (n.*962_*963insG)
c.1694_1695insG (p.Leu566PhefsTer12)
c.1670_1671insG (p.Leu558PhefsTer12)
c.1565_1566insG (p.Leu523PhefsTer12)
c.1556_1557insG (p.Leu520PhefsTer12)
c.1517_1518insG (p.Leu507PhefsTer12)
c.1463_1464insG (p.Leu489PhefsTer12)
c.1367_1368insG (p.Leu457PhefsTer12)
c.1337_1338insG (p.Leu447PhefsTer12)
c.1262_1263insG (p.Leu422PhefsTer12)
c.1160_1161insG (p.Leu388PhefsTer12)
c.791_792insG (p.Leu265PhefsTer12)
dbSNP
5g.112828870T>ACA445757376APCc.1641T>A (p.Val547=)
n.97-6081T>A
n.330T>A (p.Val110=)
n.128T>A
c.1587T>A (p.Val529=)
c.*963T>A (n.*963T>A)
c.1695T>A (p.Val565=)
c.1671T>A (p.Val557=)
c.1566T>A (p.Val522=)
c.1557T>A (p.Val519=)
c.1518T>A (p.Val506=)
c.1464T>A (p.Val488=)
c.1368T>A (p.Val456=)
c.1338T>A (p.Val446=)
c.1263T>A (p.Val421=)
c.1161T>A (p.Val387=)
c.792T>A (p.Val264=)
5g.112828870T>CCA445757377APCc.1641T>C (p.Val547=)
n.97-6081T>C
n.330T>C (p.Val110=)
n.128T>C
c.1587T>C (p.Val529=)
c.*963T>C (n.*963T>C)
c.1695T>C (p.Val565=)
c.1671T>C (p.Val557=)
c.1566T>C (p.Val522=)
c.1557T>C (p.Val519=)
c.1518T>C (p.Val506=)
c.1464T>C (p.Val488=)
c.1368T>C (p.Val456=)
c.1338T>C (p.Val446=)
c.1263T>C (p.Val421=)
c.1161T>C (p.Val387=)
c.792T>C (p.Val264=)
ClinVar
5g.112828870T>GCA445757378APCc.1641T>G (p.Val547=)
n.97-6081T>G
n.330T>G (p.Val110=)
n.128T>G
c.1587T>G (p.Val529=)
c.*963T>G (n.*963T>G)
c.1695T>G (p.Val565=)
c.1671T>G (p.Val557=)
c.1566T>G (p.Val522=)
c.1557T>G (p.Val519=)
c.1518T>G (p.Val506=)
c.1464T>G (p.Val488=)
c.1368T>G (p.Val456=)
c.1338T>G (p.Val446=)
c.1263T>G (p.Val421=)
c.1161T>G (p.Val387=)
c.792T>G (p.Val264=)
5g.112828871T>ACA16024894APCc.1642T>A (p.Leu548Met)
n.97-6080T>A
n.331T>A (p.Leu111Met)
n.129T>A
c.1588T>A (p.Leu530Met)
c.*964T>A (n.*964T>A)
c.1696T>A (p.Leu566Met)
c.1672T>A (p.Leu558Met)
c.1567T>A (p.Leu523Met)
c.1558T>A (p.Leu520Met)
c.1519T>A (p.Leu507Met)
c.1465T>A (p.Leu489Met)
c.1369T>A (p.Leu457Met)
c.1339T>A (p.Leu447Met)
c.1264T>A (p.Leu422Met)
c.1162T>A (p.Leu388Met)
c.793T>A (p.Leu265Met)
ClinVar
5g.112828871T>CCA445757379APCc.1642T>C (p.Leu548=)
n.97-6080T>C
n.331T>C (p.Leu111=)
n.129T>C
c.1588T>C (p.Leu530=)
c.*964T>C (n.*964T>C)
c.1696T>C (p.Leu566=)
c.1672T>C (p.Leu558=)
c.1567T>C (p.Leu523=)
c.1558T>C (p.Leu520=)
c.1519T>C (p.Leu507=)
c.1465T>C (p.Leu489=)
c.1369T>C (p.Leu457=)
c.1339T>C (p.Leu447=)
c.1264T>C (p.Leu422=)
c.1162T>C (p.Leu388=)
c.793T>C (p.Leu265=)
ClinVar
5g.112828871T>GCA16024895APCc.1642T>G (p.Leu548Val)
n.97-6080T>G
n.331T>G (p.Leu111Val)
n.129T>G
c.1588T>G (p.Leu530Val)
c.*964T>G (n.*964T>G)
c.1696T>G (p.Leu566Val)
c.1672T>G (p.Leu558Val)
c.1567T>G (p.Leu523Val)
c.1558T>G (p.Leu520Val)
c.1519T>G (p.Leu507Val)
c.1465T>G (p.Leu489Val)
c.1369T>G (p.Leu457Val)
c.1339T>G (p.Leu447Val)
c.1264T>G (p.Leu422Val)
c.1162T>G (p.Leu388Val)
c.793T>G (p.Leu265Val)
ClinVar gnomAD
5g.112828871T=CA1573508634APCc.1642T= (p.Leu548=)
n.97-6080T=
n.331T= (p.Leu111=)
n.129T=
c.1588T= (p.Leu530=)
c.*964T= (n.*964T=)
c.1696T= (p.Leu566=)
c.1672T= (p.Leu558=)
c.1567T= (p.Leu523=)
c.1558T= (p.Leu520=)
c.1519T= (p.Leu507=)
c.1465T= (p.Leu489=)
c.1369T= (p.Leu457=)
c.1339T= (p.Leu447=)
c.1264T= (p.Leu422=)
c.1162T= (p.Leu388=)
c.793T= (p.Leu265=)
5g.112828872T>ACA16024896APCc.1643T>A (p.Leu548Ter)
n.97-6079T>A
n.332T>A (p.Leu111Ter)
n.130T>A
c.1589T>A (p.Leu530Ter)
c.*965T>A (n.*965T>A)
c.1697T>A (p.Leu566Ter)
c.1673T>A (p.Leu558Ter)
c.1568T>A (p.Leu523Ter)
c.1559T>A (p.Leu520Ter)
c.1520T>A (p.Leu507Ter)
c.1466T>A (p.Leu489Ter)
c.1370T>A (p.Leu457Ter)
c.1340T>A (p.Leu447Ter)
c.1265T>A (p.Leu422Ter)
c.1163T>A (p.Leu388Ter)
c.794T>A (p.Leu265Ter)
5g.112828872T>CCA16024897APCc.1643T>C (p.Leu548Ser)
n.97-6079T>C
n.332T>C (p.Leu111Ser)
n.130T>C
c.1589T>C (p.Leu530Ser)
c.*965T>C (n.*965T>C)
c.1697T>C (p.Leu566Ser)
c.1673T>C (p.Leu558Ser)
c.1568T>C (p.Leu523Ser)
c.1559T>C (p.Leu520Ser)
c.1520T>C (p.Leu507Ser)
c.1466T>C (p.Leu489Ser)
c.1370T>C (p.Leu457Ser)
c.1340T>C (p.Leu447Ser)
c.1265T>C (p.Leu422Ser)
c.1163T>C (p.Leu388Ser)
c.794T>C (p.Leu265Ser)
5g.112828872T>GCA16024898APCc.1643T>G (p.Leu548Trp)
n.97-6079T>G
n.332T>G (p.Leu111Trp)
n.130T>G
c.1589T>G (p.Leu530Trp)
c.*965T>G (n.*965T>G)
c.1697T>G (p.Leu566Trp)
c.1673T>G (p.Leu558Trp)
c.1568T>G (p.Leu523Trp)
c.1559T>G (p.Leu520Trp)
c.1520T>G (p.Leu507Trp)
c.1466T>G (p.Leu489Trp)
c.1370T>G (p.Leu457Trp)
c.1340T>G (p.Leu447Trp)
c.1265T>G (p.Leu422Trp)
c.1163T>G (p.Leu388Trp)
c.794T>G (p.Leu265Trp)
5g.112828873G>ACA445757380APCc.1644G>A (p.Leu548=)
n.97-6078G>A
n.333G>A (p.Leu111=)
n.131G>A
c.1590G>A (p.Leu530=)
c.*966G>A (n.*966G>A)
c.1698G>A (p.Leu566=)
c.1674G>A (p.Leu558=)
c.1569G>A (p.Leu523=)
c.1560G>A (p.Leu520=)
c.1521G>A (p.Leu507=)
c.1467G>A (p.Leu489=)
c.1371G>A (p.Leu457=)
c.1341G>A (p.Leu447=)
c.1266G>A (p.Leu422=)
c.1164G>A (p.Leu388=)
c.795G>A (p.Leu265=)
5g.112828873G>CCA16024899APCc.1644G>C (p.Leu548Phe)
n.97-6078G>C
n.333G>C (p.Leu111Phe)
n.131G>C
c.1590G>C (p.Leu530Phe)
c.*966G>C (n.*966G>C)
c.1698G>C (p.Leu566Phe)
c.1674G>C (p.Leu558Phe)
c.1569G>C (p.Leu523Phe)
c.1560G>C (p.Leu520Phe)
c.1521G>C (p.Leu507Phe)
c.1467G>C (p.Leu489Phe)
c.1371G>C (p.Leu457Phe)
c.1341G>C (p.Leu447Phe)
c.1266G>C (p.Leu422Phe)
c.1164G>C (p.Leu388Phe)
c.795G>C (p.Leu265Phe)
ClinVar
5g.112828873G=CA1573508636APCc.1644G= (p.Leu548=)
n.97-6078G=
n.333G= (p.Leu111=)
n.131G=
c.1590G= (p.Leu530=)
c.*966G= (n.*966G=)
c.1698G= (p.Leu566=)
c.1674G= (p.Leu558=)
c.1569G= (p.Leu523=)
c.1560G= (p.Leu520=)
c.1521G= (p.Leu507=)
c.1467G= (p.Leu489=)
c.1371G= (p.Leu457=)
c.1341G= (p.Leu447=)
c.1266G= (p.Leu422=)
c.1164G= (p.Leu388=)
c.795G= (p.Leu265=)
5g.112828873G>TCA16024900APCc.1644G>T (p.Leu548Phe)
n.97-6078G>T
n.333G>T (p.Leu111Phe)
n.131G>T
c.1590G>T (p.Leu530Phe)
c.*966G>T (n.*966G>T)
c.1698G>T (p.Leu566Phe)
c.1674G>T (p.Leu558Phe)
c.1569G>T (p.Leu523Phe)
c.1560G>T (p.Leu520Phe)
c.1521G>T (p.Leu507Phe)
c.1467G>T (p.Leu489Phe)
c.1371G>T (p.Leu457Phe)
c.1341G>T (p.Leu447Phe)
c.1266G>T (p.Leu422Phe)
c.1164G>T (p.Leu388Phe)
c.795G>T (p.Leu265Phe)
5g.112828873_112828874insTCA445757381APCc.1644_1645insT (p.Arg549Ter)
n.97-6078_97-6077insT
n.333_334insT (p.Arg112Ter)
n.131_132insT
c.1590_1591insT (p.Arg531Ter)
c.*966_*967insT (n.*966_*967insT)
c.1698_1699insT (p.Arg567Ter)
c.1674_1675insT (p.Arg559Ter)
c.1569_1570insT (p.Arg524Ter)
c.1560_1561insT (p.Arg521Ter)
c.1521_1522insT (p.Arg508Ter)
c.1467_1468insT (p.Arg490Ter)
c.1371_1372insT (p.Arg458Ter)
c.1341_1342insT (p.Arg448Ter)
c.1266_1267insT (p.Arg423Ter)
c.1164_1165insT (p.Arg389Ter)
c.795_796insT (p.Arg266Ter)
5g.112828874A>CCA445757382APCc.1645A>C (p.Arg549=)
n.97-6077A>C
n.334A>C (p.Arg112=)
n.132A>C
c.1591A>C (p.Arg531=)
c.*967A>C (n.*967A>C)
c.1699A>C (p.Arg567=)
c.1675A>C (p.Arg559=)
c.1570A>C (p.Arg524=)
c.1561A>C (p.Arg521=)
c.1522A>C (p.Arg508=)
c.1468A>C (p.Arg490=)
c.1372A>C (p.Arg458=)
c.1342A>C (p.Arg448=)
c.1267A>C (p.Arg423=)
c.1165A>C (p.Arg389=)
c.796A>C (p.Arg266=)
5g.112828874A>GCA16024901APCc.1645A>G (p.Arg549Gly)
n.97-6077A>G
n.334A>G (p.Arg112Gly)
n.132A>G
c.1591A>G (p.Arg531Gly)
c.*967A>G (n.*967A>G)
c.1699A>G (p.Arg567Gly)
c.1675A>G (p.Arg559Gly)
c.1570A>G (p.Arg524Gly)
c.1561A>G (p.Arg521Gly)
c.1522A>G (p.Arg508Gly)
c.1468A>G (p.Arg490Gly)
c.1372A>G (p.Arg458Gly)
c.1342A>G (p.Arg448Gly)
c.1267A>G (p.Arg423Gly)
c.1165A>G (p.Arg389Gly)
c.796A>G (p.Arg266Gly)
5g.112828874A>TCA16024902APCc.1645A>T (p.Arg549Trp)
n.97-6077A>T
n.334A>T (p.Arg112Trp)
n.132A>T
c.1591A>T (p.Arg531Trp)
c.*967A>T (n.*967A>T)
c.1699A>T (p.Arg567Trp)
c.1675A>T (p.Arg559Trp)
c.1570A>T (p.Arg524Trp)
c.1561A>T (p.Arg521Trp)
c.1522A>T (p.Arg508Trp)
c.1468A>T (p.Arg490Trp)
c.1372A>T (p.Arg458Trp)
c.1342A>T (p.Arg448Trp)
c.1267A>T (p.Arg423Trp)
c.1165A>T (p.Arg389Trp)
c.796A>T (p.Arg266Trp)
5g.112828875G>ACA16024903APCc.1646G>A (p.Arg549Lys)
n.97-6076G>A
n.335G>A (p.Arg112Lys)
n.133G>A
c.1592G>A (p.Arg531Lys)
c.*968G>A (n.*968G>A)
c.1700G>A (p.Arg567Lys)
c.1676G>A (p.Arg559Lys)
c.1571G>A (p.Arg524Lys)
c.1562G>A (p.Arg521Lys)
c.1523G>A (p.Arg508Lys)
c.1469G>A (p.Arg490Lys)
c.1373G>A (p.Arg458Lys)
c.1343G>A (p.Arg448Lys)
c.1268G>A (p.Arg423Lys)
c.1166G>A (p.Arg389Lys)
c.797G>A (p.Arg266Lys)
5g.112828875G>CCA16024904APCc.1646G>C (p.Arg549Thr)
n.97-6076G>C
n.335G>C (p.Arg112Thr)
n.133G>C
c.1592G>C (p.Arg531Thr)
c.*968G>C (n.*968G>C)
c.1700G>C (p.Arg567Thr)
c.1676G>C (p.Arg559Thr)
c.1571G>C (p.Arg524Thr)
c.1562G>C (p.Arg521Thr)
c.1523G>C (p.Arg508Thr)
c.1469G>C (p.Arg490Thr)
c.1373G>C (p.Arg458Thr)
c.1343G>C (p.Arg448Thr)
c.1268G>C (p.Arg423Thr)
c.1166G>C (p.Arg389Thr)
c.797G>C (p.Arg266Thr)

Number of alleles fetched