Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112821894_112829116del | CA2499217432 | APC | c.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 |
5 | g.112828865_112828868del | CA645562798 | APC | c.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 |
5 | g.112828868_112828869del | CA2580613626 | APC | c.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 |
5 | g.112828867del | CA2499217453 | APC | c.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 |
5 | g.112828867T>A | CA16024886 | APC | c.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) | |
5 | g.112828867T>C | CA445757374 | APC | c.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 |
5 | g.112828867T>G | CA16024887 | APC | c.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) | |
5 | g.112828867T= | CA1573508603 | APC | c.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=) | |
5 | g.112828868del | CA2582341387 | APC | c.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) | |
5 | g.112828868G>A | CA16024888 | APC | c.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 |
5 | g.112828868G>C | CA16024889 | APC | c.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) | |
5 | g.112828868G= | CA1573508610 | APC | c.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=) | |
5 | g.112828868G>T | CA16024890 | APC | c.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) | |
5 | g.112828868_112828869delinsGT | CA1573508612 | APC | c.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=) | |
5 | g.112828869T>A | CA16024891 | APC | c.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) | |
5 | g.112828869T>C | CA16024892 | APC | c.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) | |
5 | g.112828869T>G | CA16024893 | APC | c.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 |
5 | g.112828869T= | CA1573508629 | APC | c.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=) | |
5 | g.112828872dup | CA645562799 | APC | c.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 |
5 | g.112828872del | CA445757375 | APC | c.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 |
5 | g.112828871_112828872del | CA2695205031 | APC | c.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) | |
5 | g.112828869_112828870insG | CA802039915 | APC | c.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 |
5 | g.112828870T>A | CA445757376 | APC | c.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=) | |
5 | g.112828870T>C | CA445757377 | APC | c.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 |
5 | g.112828870T>G | CA445757378 | APC | c.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=) | |
5 | g.112828871T>A | CA16024894 | APC | c.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 |
5 | g.112828871T>C | CA445757379 | APC | c.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 |
5 | g.112828871T>G | CA16024895 | APC | c.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 |
5 | g.112828871T= | CA1573508634 | APC | c.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=) | |
5 | g.112828872T>A | CA16024896 | APC | c.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) | |
5 | g.112828872T>C | CA16024897 | APC | c.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 |
5 | g.112828872T>G | CA16024898 | APC | c.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) | |
5 | g.112828873G>A | CA445757380 | APC | c.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=) | |
5 | g.112828873G>C | CA16024899 | APC | c.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 |
5 | g.112828873G= | CA1573508636 | APC | c.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=) | |
5 | g.112828873G>T | CA16024900 | APC | c.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 |
5 | g.112828873_112828874insT | CA445757381 | APC | c.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) | |
5 | g.112828874A>C | CA445757382 | APC | c.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=) | |
5 | g.112828874A>G | CA16024901 | APC | c.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) | |
5 | g.112828874A>T | CA16024902 | APC | c.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 |
5 | g.112828876_112828912del | CA2582341389 | APC | c.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) | |
5 | g.112828875G>A | CA16024903 | APC | c.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) | |
5 | g.112828875G>C | CA16024904 | APC | c.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) | |
5 | g.112828875G>T | CA16024905 | APC | c.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) | |
5 | g.112828875_112828876delinsAA | CA645562800 | APC | c.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 |
5 | g.112828876G>A | CA16604744 | APC | c.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 |
5 | g.112828876G>C | CA16024906 | APC | c.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 |
5 | g.112828876G= | CA1573508640 | APC | c.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=) | |
5 | g.112828876G>T | CA16024907 | APC | c.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) | |
5 | g.112828877A>C | CA16024908 | APC | c.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) |