Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112821894_112829116delCA2499217432APCc.1313-2_1409-5835del
c.1313-2_1797+144del
n.1369-2_1943del
c.*1319-2_*1749+144del
c.1259-2_1689+144del
c.1313-2_1743+144del
c.*635-2_*1065+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.112828865_112828868delCA645562798APCc.1409-6086_1409-6083del (n.1409-6086_1409-6083del)
c.1690_1693del (p.Ser564PhefsTer2)
n.1692_1695del
c.*1642_*1645del (n.*1642_*1645del)
c.1582_1585del (p.Ser528PhefsTer2)
c.1636_1639del (p.Ser546PhefsTer2)
c.97-6086_97-6083del
c.325_328del (p.Ser109PhefsTer2)
n.123_126del
c.*958_*961del (n.*958_*961del)
c.123_126del
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.112828868_112828869delCA2580613626APCc.1409-6083_1409-6082del (n.1409-6083_1409-6082del)
c.1693_1694del (p.Val565PhefsTer12)
n.1695_1696del
c.*1645_*1646del (n.*1645_*1646del)
c.1585_1586del (p.Val529PhefsTer12)
c.1639_1640del (p.Val547PhefsTer12)
c.97-6083_97-6082del
c.328_329del (p.Val110PhefsTer12)
n.126_127del
c.*961_*962del (n.*961_*962del)
c.126_127del
c.1669_1670del (p.Val557PhefsTer12)
c.1564_1565del (p.Val522PhefsTer12)
c.1555_1556del (p.Val519PhefsTer12)
c.1516_1517del (p.Val506PhefsTer12)
c.1462_1463del (p.Val488PhefsTer12)
c.1366_1367del (p.Val456PhefsTer12)
c.1336_1337del (p.Val446PhefsTer12)
c.1261_1262del (p.Val421PhefsTer12)
c.1159_1160del (p.Val387PhefsTer12)
c.790_791del (p.Val264PhefsTer12)
dbSNP
5g.112828867delCA2499217453APCc.1409-6084del (n.1409-6084del)
c.1692del (p.Ser564ArgfsTer3)
n.1694del
c.*1644del (n.*1644del)
c.1584del (p.Ser528ArgfsTer3)
c.1638del (p.Ser546ArgfsTer3)
c.97-6084del
c.327del (p.Ser109ArgfsTer3)
n.125del
c.*960del (n.*960del)
c.125del
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 dbSNP
5g.112828867T>ACA16024886APCc.1409-6084T>A (n.1409-6084T>A)
c.1692T>A (p.Ser564Arg)
n.1694T>A
c.*1644T>A (n.*1644T>A)
c.1584T>A (p.Ser528Arg)
c.1638T>A (p.Ser546Arg)
c.97-6084T>A
c.327T>A (p.Ser109Arg)
n.125T>A
c.*960T>A (n.*960T>A)
c.125T>A
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.1409-6084T>C (n.1409-6084T>C)
c.1692T>C (p.Ser564=)
n.1694T>C
c.*1644T>C (n.*1644T>C)
c.1584T>C (p.Ser528=)
c.1638T>C (p.Ser546=)
c.97-6084T>C
c.327T>C (p.Ser109=)
n.125T>C
c.*960T>C (n.*960T>C)
c.125T>C
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 dbSNP gnomAD v2 gnomAD v4
5g.112828867T>GCA16024887APCc.1409-6084T>G (n.1409-6084T>G)
c.1692T>G (p.Ser564Arg)
n.1694T>G
c.*1644T>G (n.*1644T>G)
c.1584T>G (p.Ser528Arg)
c.1638T>G (p.Ser546Arg)
c.97-6084T>G
c.327T>G (p.Ser109Arg)
n.125T>G
c.*960T>G (n.*960T>G)
c.125T>G
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.1409-6084T= (n.1409-6084T=)
c.1692T= (p.Ser564=)
n.1694T=
c.*1644T= (n.*1644T=)
c.1584T= (p.Ser528=)
c.1638T= (p.Ser546=)
c.97-6084T=
c.327T= (p.Ser109=)
n.125T=
c.*960T= (n.*960T=)
c.125T=
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.112828868delCA2582341387APCc.1409-6083del (n.1409-6083del)
c.1693del (p.Val565PhefsTer2)
n.1695del
c.*1645del (n.*1645del)
c.1585del (p.Val529PhefsTer2)
c.1639del (p.Val547PhefsTer2)
c.97-6083del
c.328del (p.Val110PhefsTer2)
n.126del
c.*961del (n.*961del)
c.126del
c.1669del (p.Val557PhefsTer2)
c.1564del (p.Val522PhefsTer2)
c.1555del (p.Val519PhefsTer2)
c.1516del (p.Val506PhefsTer2)
c.1462del (p.Val488PhefsTer2)
c.1366del (p.Val456PhefsTer2)
c.1336del (p.Val446PhefsTer2)
c.1261del (p.Val421PhefsTer2)
c.1159del (p.Val387PhefsTer2)
c.790del (p.Val264PhefsTer2)
5g.112828868G>ACA16024888APCc.1409-6083G>A (n.1409-6083G>A)
c.1693G>A (p.Val565Ile)
n.1695G>A
c.*1645G>A (n.*1645G>A)
c.1585G>A (p.Val529Ile)
c.1639G>A (p.Val547Ile)
c.97-6083G>A
c.328G>A (p.Val110Ile)
n.126G>A
c.*961G>A (n.*961G>A)
c.126G>A
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 dbSNP gnomAD v4
5g.112828868G>CCA16024889APCc.1409-6083G>C (n.1409-6083G>C)
c.1693G>C (p.Val565Leu)
n.1695G>C
c.*1645G>C (n.*1645G>C)
c.1585G>C (p.Val529Leu)
c.1639G>C (p.Val547Leu)
c.97-6083G>C
c.328G>C (p.Val110Leu)
n.126G>C
c.*961G>C (n.*961G>C)
c.126G>C
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.1409-6083G= (n.1409-6083G=)
c.1693G= (p.Val565=)
n.1695G=
c.*1645G= (n.*1645G=)
c.1585G= (p.Val529=)
c.1639G= (p.Val547=)
c.97-6083G=
c.328G= (p.Val110=)
n.126G=
c.*961G= (n.*961G=)
c.126G=
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.1409-6083G>T (n.1409-6083G>T)
c.1693G>T (p.Val565Phe)
n.1695G>T
c.*1645G>T (n.*1645G>T)
c.1585G>T (p.Val529Phe)
c.1639G>T (p.Val547Phe)
c.97-6083G>T
c.328G>T (p.Val110Phe)
n.126G>T
c.*961G>T (n.*961G>T)
c.126G>T
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.1409-6083_1409-6082delinsGT (n.1409-6083_1409-6082delinsGT)
c.1693_1694delinsGT (p.Val565=)
n.1695_1696delinsGT
c.*1645_*1646delinsGT (n.*1645_*1646delinsGT)
c.1585_1586delinsGT (p.Val529=)
c.1639_1640delinsGT (p.Val547=)
c.97-6083_97-6082delinsGT
c.328_329delinsGT (p.Val110=)
n.126_127delinsGT
c.*961_*962delinsGT (n.*961_*962delinsGT)
c.126_127delinsGT
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.1409-6082T>A (n.1409-6082T>A)
c.1694T>A (p.Val565Asp)
n.1696T>A
c.*1646T>A (n.*1646T>A)
c.1586T>A (p.Val529Asp)
c.1640T>A (p.Val547Asp)
c.97-6082T>A
c.329T>A (p.Val110Asp)
n.127T>A
c.*962T>A (n.*962T>A)
c.127T>A
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.1409-6082T>C (n.1409-6082T>C)
c.1694T>C (p.Val565Ala)
n.1696T>C
c.*1646T>C (n.*1646T>C)
c.1586T>C (p.Val529Ala)
c.1640T>C (p.Val547Ala)
c.97-6082T>C
c.329T>C (p.Val110Ala)
n.127T>C
c.*962T>C (n.*962T>C)
c.127T>C
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.1409-6082T>G (n.1409-6082T>G)
c.1694T>G (p.Val565Gly)
n.1696T>G
c.*1646T>G (n.*1646T>G)
c.1586T>G (p.Val529Gly)
c.1640T>G (p.Val547Gly)
c.97-6082T>G
c.329T>G (p.Val110Gly)
n.127T>G
c.*962T>G (n.*962T>G)
c.127T>G
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 dbSNP
5g.112828869T=CA1573508629APCc.1409-6082T= (n.1409-6082T=)
c.1694T= (p.Val565=)
n.1696T=
c.*1646T= (n.*1646T=)
c.1586T= (p.Val529=)
c.1640T= (p.Val547=)
c.97-6082T=
c.329T= (p.Val110=)
n.127T=
c.*962T= (n.*962T=)
c.127T=
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.1409-6079dup (n.1409-6079dup)
c.1697dup (p.Leu566PhefsTer12)
n.1699dup
c.*1649dup (n.*1649dup)
c.1589dup (p.Leu530PhefsTer12)
c.1643dup (p.Leu548PhefsTer12)
c.97-6079dup
c.332dup (p.Leu111PhefsTer12)
n.130dup
c.*965dup (n.*965dup)
c.130dup
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.1409-6079del (n.1409-6079del)
c.1697del (p.Leu566Ter)
n.1699del
c.*1649del (n.*1649del)
c.1589del (p.Leu530Ter)
c.1643del (p.Leu548Ter)
c.97-6079del
c.332del (p.Leu111Ter)
n.130del
c.*965del (n.*965del)
c.130del
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.112828871_112828872delCA2695205031APCc.1409-6080_1409-6079del (n.1409-6080_1409-6079del)
c.1696_1697del (p.Leu566GlufsTer11)
n.1698_1699del
c.*1648_*1649del (n.*1648_*1649del)
c.1588_1589del (p.Leu530GlufsTer11)
c.1642_1643del (p.Leu548GlufsTer11)
c.97-6080_97-6079del
c.331_332del (p.Leu111GlufsTer11)
n.129_130del
c.*964_*965del (n.*964_*965del)
c.129_130del
c.1672_1673del (p.Leu558GlufsTer11)
c.1567_1568del (p.Leu523GlufsTer11)
c.1558_1559del (p.Leu520GlufsTer11)
c.1519_1520del (p.Leu507GlufsTer11)
c.1465_1466del (p.Leu489GlufsTer11)
c.1369_1370del (p.Leu457GlufsTer11)
c.1339_1340del (p.Leu447GlufsTer11)
c.1264_1265del (p.Leu422GlufsTer11)
c.1162_1163del (p.Leu388GlufsTer11)
c.793_794del (p.Leu265GlufsTer11)
5g.112828869_112828870insGCA802039915APCc.1409-6082_1409-6081insG (n.1409-6082_1409-6081insG)
c.1694_1695insG (p.Leu566PhefsTer12)
n.1696_1697insG
c.*1646_*1647insG (n.*1646_*1647insG)
c.1586_1587insG (p.Leu530PhefsTer12)
c.1640_1641insG (p.Leu548PhefsTer12)
c.97-6082_97-6081insG
c.329_330insG (p.Leu111PhefsTer12)
n.127_128insG
c.*962_*963insG (n.*962_*963insG)
c.127_128insG
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.1409-6081T>A (n.1409-6081T>A)
c.1695T>A (p.Val565=)
n.1697T>A
c.*1647T>A (n.*1647T>A)
c.1587T>A (p.Val529=)
c.1641T>A (p.Val547=)
c.97-6081T>A
c.330T>A (p.Val110=)
n.128T>A
c.*963T>A (n.*963T>A)
c.128T>A
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.1409-6081T>C (n.1409-6081T>C)
c.1695T>C (p.Val565=)
n.1697T>C
c.*1647T>C (n.*1647T>C)
c.1587T>C (p.Val529=)
c.1641T>C (p.Val547=)
c.97-6081T>C
c.330T>C (p.Val110=)
n.128T>C
c.*963T>C (n.*963T>C)
c.128T>C
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 dbSNP
5g.112828870T>GCA445757378APCc.1409-6081T>G (n.1409-6081T>G)
c.1695T>G (p.Val565=)
n.1697T>G
c.*1647T>G (n.*1647T>G)
c.1587T>G (p.Val529=)
c.1641T>G (p.Val547=)
c.97-6081T>G
c.330T>G (p.Val110=)
n.128T>G
c.*963T>G (n.*963T>G)
c.128T>G
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.1409-6080T>A (n.1409-6080T>A)
c.1696T>A (p.Leu566Met)
n.1698T>A
c.*1648T>A (n.*1648T>A)
c.1588T>A (p.Leu530Met)
c.1642T>A (p.Leu548Met)
c.97-6080T>A
c.331T>A (p.Leu111Met)
n.129T>A
c.*964T>A (n.*964T>A)
c.129T>A
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 dbSNP
5g.112828871T>CCA445757379APCc.1409-6080T>C (n.1409-6080T>C)
c.1696T>C (p.Leu566=)
n.1698T>C
c.*1648T>C (n.*1648T>C)
c.1588T>C (p.Leu530=)
c.1642T>C (p.Leu548=)
c.97-6080T>C
c.331T>C (p.Leu111=)
n.129T>C
c.*964T>C (n.*964T>C)
c.129T>C
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 dbSNP
5g.112828871T>GCA16024895APCc.1409-6080T>G (n.1409-6080T>G)
c.1696T>G (p.Leu566Val)
n.1698T>G
c.*1648T>G (n.*1648T>G)
c.1588T>G (p.Leu530Val)
c.1642T>G (p.Leu548Val)
c.97-6080T>G
c.331T>G (p.Leu111Val)
n.129T>G
c.*964T>G (n.*964T>G)
c.129T>G
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 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112828871T=CA1573508634APCc.1409-6080T= (n.1409-6080T=)
c.1696T= (p.Leu566=)
n.1698T=
c.*1648T= (n.*1648T=)
c.1588T= (p.Leu530=)
c.1642T= (p.Leu548=)
c.97-6080T=
c.331T= (p.Leu111=)
n.129T=
c.*964T= (n.*964T=)
c.129T=
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.1409-6079T>A (n.1409-6079T>A)
c.1697T>A (p.Leu566Ter)
n.1699T>A
c.*1649T>A (n.*1649T>A)
c.1589T>A (p.Leu530Ter)
c.1643T>A (p.Leu548Ter)
c.97-6079T>A
c.332T>A (p.Leu111Ter)
n.130T>A
c.*965T>A (n.*965T>A)
c.130T>A
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.1409-6079T>C (n.1409-6079T>C)
c.1697T>C (p.Leu566Ser)
n.1699T>C
c.*1649T>C (n.*1649T>C)
c.1589T>C (p.Leu530Ser)
c.1643T>C (p.Leu548Ser)
c.97-6079T>C
c.332T>C (p.Leu111Ser)
n.130T>C
c.*965T>C (n.*965T>C)
c.130T>C
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)
ClinVar
5g.112828872T>GCA16024898APCc.1409-6079T>G (n.1409-6079T>G)
c.1697T>G (p.Leu566Trp)
n.1699T>G
c.*1649T>G (n.*1649T>G)
c.1589T>G (p.Leu530Trp)
c.1643T>G (p.Leu548Trp)
c.97-6079T>G
c.332T>G (p.Leu111Trp)
n.130T>G
c.*965T>G (n.*965T>G)
c.130T>G
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.1409-6078G>A (n.1409-6078G>A)
c.1698G>A (p.Leu566=)
n.1700G>A
c.*1650G>A (n.*1650G>A)
c.1590G>A (p.Leu530=)
c.1644G>A (p.Leu548=)
c.97-6078G>A
c.333G>A (p.Leu111=)
n.131G>A
c.*966G>A (n.*966G>A)
c.131G>A
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.1409-6078G>C (n.1409-6078G>C)
c.1698G>C (p.Leu566Phe)
n.1700G>C
c.*1650G>C (n.*1650G>C)
c.1590G>C (p.Leu530Phe)
c.1644G>C (p.Leu548Phe)
c.97-6078G>C
c.333G>C (p.Leu111Phe)
n.131G>C
c.*966G>C (n.*966G>C)
c.131G>C
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 dbSNP gnomAD v4
5g.112828873G=CA1573508636APCc.1409-6078G= (n.1409-6078G=)
c.1698G= (p.Leu566=)
n.1700G=
c.*1650G= (n.*1650G=)
c.1590G= (p.Leu530=)
c.1644G= (p.Leu548=)
c.97-6078G=
c.333G= (p.Leu111=)
n.131G=
c.*966G= (n.*966G=)
c.131G=
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.1409-6078G>T (n.1409-6078G>T)
c.1698G>T (p.Leu566Phe)
n.1700G>T
c.*1650G>T (n.*1650G>T)
c.1590G>T (p.Leu530Phe)
c.1644G>T (p.Leu548Phe)
c.97-6078G>T
c.333G>T (p.Leu111Phe)
n.131G>T
c.*966G>T (n.*966G>T)
c.131G>T
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)
gnomAD v4
5g.112828873_112828874insTCA445757381APCc.1409-6078_1409-6077insT (n.1409-6078_1409-6077insT)
c.1698_1699insT (p.Arg567Ter)
n.1700_1701insT
c.*1650_*1651insT (n.*1650_*1651insT)
c.1590_1591insT (p.Arg531Ter)
c.1644_1645insT (p.Arg549Ter)
c.97-6078_97-6077insT
c.333_334insT (p.Arg112Ter)
n.131_132insT
c.*966_*967insT (n.*966_*967insT)
c.131_132insT
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.1409-6077A>C (n.1409-6077A>C)
c.1699A>C (p.Arg567=)
n.1701A>C
c.*1651A>C (n.*1651A>C)
c.1591A>C (p.Arg531=)
c.1645A>C (p.Arg549=)
c.97-6077A>C
c.334A>C (p.Arg112=)
n.132A>C
c.*967A>C (n.*967A>C)
c.132A>C
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.1409-6077A>G (n.1409-6077A>G)
c.1699A>G (p.Arg567Gly)
n.1701A>G
c.*1651A>G (n.*1651A>G)
c.1591A>G (p.Arg531Gly)
c.1645A>G (p.Arg549Gly)
c.97-6077A>G
c.334A>G (p.Arg112Gly)
n.132A>G
c.*967A>G (n.*967A>G)
c.132A>G
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.1409-6077A>T (n.1409-6077A>T)
c.1699A>T (p.Arg567Trp)
n.1701A>T
c.*1651A>T (n.*1651A>T)
c.1591A>T (p.Arg531Trp)
c.1645A>T (p.Arg549Trp)
c.97-6077A>T
c.334A>T (p.Arg112Trp)
n.132A>T
c.*967A>T (n.*967A>T)
c.132A>T
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)
dbSNP
5g.112828876_112828912delCA2582341389APCc.1409-6075_1409-6039del (n.1409-6075_1409-6039del)
c.1701_1737del (p.Asn568ArgfsTer8)
n.1703_1739del
c.*1653_*1689del (n.*1653_*1689del)
c.1593_1629del (p.Asn532ArgfsTer8)
c.1647_1683del (p.Asn550ArgfsTer8)
c.97-6075_97-6039del
c.336_372del (p.Asn113ArgfsTer8)
n.134_170del
c.*969_*1005del (n.*969_*1005del)
c.134_170del
c.1677_1713del (p.Asn560ArgfsTer8)
c.1572_1608del (p.Asn525ArgfsTer8)
c.1563_1599del (p.Asn522ArgfsTer8)
c.1524_1560del (p.Asn509ArgfsTer8)
c.1470_1506del (p.Asn491ArgfsTer8)
c.1374_1410del (p.Asn459ArgfsTer8)
c.1344_1380del (p.Asn449ArgfsTer8)
c.1269_1305del (p.Asn424ArgfsTer8)
c.1167_1203del (p.Asn390ArgfsTer8)
c.798_834del (p.Asn267ArgfsTer8)
5g.112828875G>ACA16024903APCc.1409-6076G>A (n.1409-6076G>A)
c.1700G>A (p.Arg567Lys)
n.1702G>A
c.*1652G>A (n.*1652G>A)
c.1592G>A (p.Arg531Lys)
c.1646G>A (p.Arg549Lys)
c.97-6076G>A
c.335G>A (p.Arg112Lys)
n.133G>A
c.*968G>A (n.*968G>A)
c.133G>A
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.1409-6076G>C (n.1409-6076G>C)
c.1700G>C (p.Arg567Thr)
n.1702G>C
c.*1652G>C (n.*1652G>C)
c.1592G>C (p.Arg531Thr)
c.1646G>C (p.Arg549Thr)
c.97-6076G>C
c.335G>C (p.Arg112Thr)
n.133G>C
c.*968G>C (n.*968G>C)
c.133G>C
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)
5g.112828875G>TCA16024905APCc.1409-6076G>T (n.1409-6076G>T)
c.1700G>T (p.Arg567Met)
n.1702G>T
c.*1652G>T (n.*1652G>T)
c.1592G>T (p.Arg531Met)
c.1646G>T (p.Arg549Met)
c.97-6076G>T
c.335G>T (p.Arg112Met)
n.133G>T
c.*968G>T (n.*968G>T)
c.133G>T
c.1676G>T (p.Arg559Met)
c.1571G>T (p.Arg524Met)
c.1562G>T (p.Arg521Met)
c.1523G>T (p.Arg508Met)
c.1469G>T (p.Arg490Met)
c.1373G>T (p.Arg458Met)
c.1343G>T (p.Arg448Met)
c.1268G>T (p.Arg423Met)
c.1166G>T (p.Arg389Met)
c.797G>T (p.Arg266Met)
5g.112828875_112828876delinsAACA645562800APCc.1409-6076_1409-6075delinsAA (n.1409-6076_1409-6075delinsAA)
c.1700_1701delinsAA (p.Arg567Lys)
n.1702_1703delinsAA
c.*1652_*1653delinsAA (n.*1652_*1653delinsAA)
c.1592_1593delinsAA (p.Arg531Lys)
c.1646_1647delinsAA (p.Arg549Lys)
c.97-6076_97-6075delinsAA
c.335_336delinsAA (p.Arg112Lys)
n.133_134delinsAA
c.*968_*969delinsAA (n.*968_*969delinsAA)
c.133_134delinsAA
c.1676_1677delinsAA (p.Arg559Lys)
c.1571_1572delinsAA (p.Arg524Lys)
c.1562_1563delinsAA (p.Arg521Lys)
c.1523_1524delinsAA (p.Arg508Lys)
c.1469_1470delinsAA (p.Arg490Lys)
c.1373_1374delinsAA (p.Arg458Lys)
c.1343_1344delinsAA (p.Arg448Lys)
c.1268_1269delinsAA (p.Arg423Lys)
c.1166_1167delinsAA (p.Arg389Lys)
c.797_798delinsAA (p.Arg266Lys)
COSMIC
5g.112828876G>ACA16604744APCc.1409-6075G>A (n.1409-6075G>A)
c.1701G>A (p.Arg567=)
n.1703G>A
c.*1653G>A (n.*1653G>A)
c.1593G>A (p.Arg531=)
c.1647G>A (p.Arg549=)
c.97-6075G>A
c.336G>A (p.Arg112=)
n.134G>A
c.*969G>A (n.*969G>A)
c.134G>A
c.1677G>A (p.Arg559=)
c.1572G>A (p.Arg524=)
c.1563G>A (p.Arg521=)
c.1524G>A (p.Arg508=)
c.1470G>A (p.Arg490=)
c.1374G>A (p.Arg458=)
c.1344G>A (p.Arg448=)
c.1269G>A (p.Arg423=)
c.1167G>A (p.Arg389=)
c.798G>A (p.Arg266=)
ClinVar dbSNP gnomAD v4
5g.112828876G>CCA16024906APCc.1409-6075G>C (n.1409-6075G>C)
c.1701G>C (p.Arg567Ser)
n.1703G>C
c.*1653G>C (n.*1653G>C)
c.1593G>C (p.Arg531Ser)
c.1647G>C (p.Arg549Ser)
c.97-6075G>C
c.336G>C (p.Arg112Ser)
n.134G>C
c.*969G>C (n.*969G>C)
c.134G>C
c.1677G>C (p.Arg559Ser)
c.1572G>C (p.Arg524Ser)
c.1563G>C (p.Arg521Ser)
c.1524G>C (p.Arg508Ser)
c.1470G>C (p.Arg490Ser)
c.1374G>C (p.Arg458Ser)
c.1344G>C (p.Arg448Ser)
c.1269G>C (p.Arg423Ser)
c.1167G>C (p.Arg389Ser)
c.798G>C (p.Arg266Ser)
dbSNP
5g.112828876G=CA1573508640APCc.1409-6075G= (n.1409-6075G=)
c.1701G= (p.Arg567=)
n.1703G=
c.*1653G= (n.*1653G=)
c.1593G= (p.Arg531=)
c.1647G= (p.Arg549=)
c.97-6075G=
c.336G= (p.Arg112=)
n.134G=
c.*969G= (n.*969G=)
c.134G=
c.1677G= (p.Arg559=)
c.1572G= (p.Arg524=)
c.1563G= (p.Arg521=)
c.1524G= (p.Arg508=)
c.1470G= (p.Arg490=)
c.1374G= (p.Arg458=)
c.1344G= (p.Arg448=)
c.1269G= (p.Arg423=)
c.1167G= (p.Arg389=)
c.798G= (p.Arg266=)
5g.112828876G>TCA16024907APCc.1409-6075G>T (n.1409-6075G>T)
c.1701G>T (p.Arg567Ser)
n.1703G>T
c.*1653G>T (n.*1653G>T)
c.1593G>T (p.Arg531Ser)
c.1647G>T (p.Arg549Ser)
c.97-6075G>T
c.336G>T (p.Arg112Ser)
n.134G>T
c.*969G>T (n.*969G>T)
c.134G>T
c.1677G>T (p.Arg559Ser)
c.1572G>T (p.Arg524Ser)
c.1563G>T (p.Arg521Ser)
c.1524G>T (p.Arg508Ser)
c.1470G>T (p.Arg490Ser)
c.1374G>T (p.Arg458Ser)
c.1344G>T (p.Arg448Ser)
c.1269G>T (p.Arg423Ser)
c.1167G>T (p.Arg389Ser)
c.798G>T (p.Arg266Ser)
5g.112828877A>CCA16024908APCc.1409-6074A>C (n.1409-6074A>C)
c.1702A>C (p.Asn568His)
n.1704A>C
c.*1654A>C (n.*1654A>C)
c.1594A>C (p.Asn532His)
c.1648A>C (p.Asn550His)
c.97-6074A>C
c.337A>C (p.Asn113His)
n.135A>C
c.*970A>C (n.*970A>C)
c.135A>C
c.1678A>C (p.Asn560His)
c.1573A>C (p.Asn525His)
c.1564A>C (p.Asn522His)
c.1525A>C (p.Asn509His)
c.1471A>C (p.Asn491His)
c.1375A>C (p.Asn459His)
c.1345A>C (p.Asn449His)
c.1270A>C (p.Asn424His)
c.1168A>C (p.Asn390His)
c.799A>C (p.Asn267His)

Number of alleles fetched