| 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.112828864del | CA2674856496 | APC | c.1409-6087del (n.1409-6087del) c.1689del (p.Ser564ValfsTer3) n.1691del c.*1641del (n.*1641del) c.1581del (p.Ser528ValfsTer3) c.1635del (p.Ser546ValfsTer3) c.97-6087del c.324del (p.Ser109ValfsTer3) n.122del c.*957del (n.*957del) c.122del c.1665del (p.Ser556ValfsTer3) c.1560del (p.Ser521ValfsTer3) c.1551del (p.Ser518ValfsTer3) c.1512del (p.Ser505ValfsTer3) c.1458del (p.Ser487ValfsTer3) c.1362del (p.Ser455ValfsTer3) c.1332del (p.Ser445ValfsTer3) c.1257del (p.Ser420ValfsTer3) c.1155del (p.Ser386ValfsTer3) c.786del (p.Ser263ValfsTer3) | gnomAD v4 |
| 5 | g.112828864G>A | CA005411 | APC | c.1409-6087G>A (n.1409-6087G>A) c.1689G>A (p.Ala563=) n.1691G>A c.*1641G>A (n.*1641G>A) c.1581G>A (p.Ala527=) c.1635G>A (p.Ala545=) c.97-6087G>A c.324G>A (p.Ala108=) n.122G>A c.*957G>A (n.*957G>A) c.122G>A 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 v2 gnomAD v3 gnomAD v4 |
| 5 | g.112828864G>C | CA445757372 | APC | c.1409-6087G>C (n.1409-6087G>C) c.1689G>C (p.Ala563=) n.1691G>C c.*1641G>C (n.*1641G>C) c.1581G>C (p.Ala527=) c.1635G>C (p.Ala545=) c.97-6087G>C c.324G>C (p.Ala108=) n.122G>C c.*957G>C (n.*957G>C) c.122G>C 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=) | dbSNP |
| 5 | g.112828864G= | CA1573508589 | APC | c.1409-6087G= (n.1409-6087G=) c.1689G= (p.Ala563=) n.1691G= c.*1641G= (n.*1641G=) c.1581G= (p.Ala527=) c.1635G= (p.Ala545=) c.97-6087G= c.324G= (p.Ala108=) n.122G= c.*957G= (n.*957G=) c.122G= 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=) | |
| 5 | g.112828864G>T | CA445757373 | APC | c.1409-6087G>T (n.1409-6087G>T) c.1689G>T (p.Ala563=) n.1691G>T c.*1641G>T (n.*1641G>T) c.1581G>T (p.Ala527=) c.1635G>T (p.Ala545=) c.97-6087G>T c.324G>T (p.Ala108=) n.122G>T c.*957G>T (n.*957G>T) c.122G>T 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 dbSNP gnomAD v4 |
| 5 | g.112828864_112828865delinsAG | CA2697546184 | APC | c.1409-6087_1409-6086delinsAG (n.1409-6087_1409-6086delinsAG) c.1689_1690delinsAG (p.Ser564Gly) n.1691_1692delinsAG c.*1641_*1642delinsAG (n.*1641_*1642delinsAG) c.1581_1582delinsAG (p.Ser528Gly) c.1635_1636delinsAG (p.Ser546Gly) c.97-6087_97-6086delinsAG c.324_325delinsAG (p.Ser109Gly) n.122_123delinsAG c.*957_*958delinsAG (n.*957_*958delinsAG) c.122_123delinsAG c.1665_1666delinsAG (p.Ser556Gly) c.1560_1561delinsAG (p.Ser521Gly) c.1551_1552delinsAG (p.Ser518Gly) c.1512_1513delinsAG (p.Ser505Gly) c.1458_1459delinsAG (p.Ser487Gly) c.1362_1363delinsAG (p.Ser455Gly) c.1332_1333delinsAG (p.Ser445Gly) c.1257_1258delinsAG (p.Ser420Gly) c.1155_1156delinsAG (p.Ser386Gly) c.786_787delinsAG (p.Ser263Gly) | |
| 5 | g.112828864_112828865delinsAT | CA2580072447 | APC | c.1409-6087_1409-6086delinsAT (n.1409-6087_1409-6086delinsAT) c.1689_1690delinsAT (p.Ser564Cys) n.1691_1692delinsAT c.*1641_*1642delinsAT (n.*1641_*1642delinsAT) c.1581_1582delinsAT (p.Ser528Cys) c.1635_1636delinsAT (p.Ser546Cys) c.97-6087_97-6086delinsAT c.324_325delinsAT (p.Ser109Cys) n.122_123delinsAT c.*957_*958delinsAT (n.*957_*958delinsAT) c.122_123delinsAT c.1665_1666delinsAT (p.Ser556Cys) c.1560_1561delinsAT (p.Ser521Cys) c.1551_1552delinsAT (p.Ser518Cys) c.1512_1513delinsAT (p.Ser505Cys) c.1458_1459delinsAT (p.Ser487Cys) c.1362_1363delinsAT (p.Ser455Cys) c.1332_1333delinsAT (p.Ser445Cys) c.1257_1258delinsAT (p.Ser420Cys) c.1155_1156delinsAT (p.Ser386Cys) c.786_787delinsAT (p.Ser263Cys) | 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.112828865A>C | CA16024880 | APC | c.1409-6086A>C (n.1409-6086A>C) c.1690A>C (p.Ser564Arg) n.1692A>C c.*1642A>C (n.*1642A>C) c.1582A>C (p.Ser528Arg) c.1636A>C (p.Ser546Arg) c.97-6086A>C c.325A>C (p.Ser109Arg) n.123A>C c.*958A>C (n.*958A>C) c.123A>C 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) | |
| 5 | g.112828865A>G | CA16024881 | APC | c.1409-6086A>G (n.1409-6086A>G) c.1690A>G (p.Ser564Gly) n.1692A>G c.*1642A>G (n.*1642A>G) c.1582A>G (p.Ser528Gly) c.1636A>G (p.Ser546Gly) c.97-6086A>G c.325A>G (p.Ser109Gly) n.123A>G c.*958A>G (n.*958A>G) c.123A>G 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) | gnomAD v4 COSMIC |
| 5 | g.112828865A>T | CA16024882 | APC | c.1409-6086A>T (n.1409-6086A>T) c.1690A>T (p.Ser564Cys) n.1692A>T c.*1642A>T (n.*1642A>T) c.1582A>T (p.Ser528Cys) c.1636A>T (p.Ser546Cys) c.97-6086A>T c.325A>T (p.Ser109Cys) n.123A>T c.*958A>T (n.*958A>T) c.123A>T 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) | dbSNP |
| 5 | g.112828865_112828866insAA | CA2674856498 | APC | c.1409-6086_1409-6085insAA (n.1409-6086_1409-6085insAA) c.1690_1691insAA (p.Ser564LysfsTer4) n.1692_1693insAA c.*1642_*1643insAA (n.*1642_*1643insAA) c.1582_1583insAA (p.Ser528LysfsTer4) c.1636_1637insAA (p.Ser546LysfsTer4) c.97-6086_97-6085insAA c.325_326insAA (p.Ser109LysfsTer4) n.123_124insAA c.*958_*959insAA (n.*958_*959insAA) c.123_124insAA c.1666_1667insAA (p.Ser556LysfsTer4) c.1561_1562insAA (p.Ser521LysfsTer4) c.1552_1553insAA (p.Ser518LysfsTer4) c.1513_1514insAA (p.Ser505LysfsTer4) c.1459_1460insAA (p.Ser487LysfsTer4) c.1363_1364insAA (p.Ser455LysfsTer4) c.1333_1334insAA (p.Ser445LysfsTer4) c.1258_1259insAA (p.Ser420LysfsTer4) c.1156_1157insAA (p.Ser386LysfsTer4) c.787_788insAA (p.Ser263LysfsTer4) | gnomAD v4 |
| 5 | g.112828866G>A | CA16024883 | APC | c.1409-6085G>A (n.1409-6085G>A) c.1691G>A (p.Ser564Asn) n.1693G>A c.*1643G>A (n.*1643G>A) c.1583G>A (p.Ser528Asn) c.1637G>A (p.Ser546Asn) c.97-6085G>A c.326G>A (p.Ser109Asn) n.124G>A c.*959G>A (n.*959G>A) c.124G>A 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) | dbSNP |
| 5 | g.112828866G>C | CA16024884 | APC | c.1409-6085G>C (n.1409-6085G>C) c.1691G>C (p.Ser564Thr) n.1693G>C c.*1643G>C (n.*1643G>C) c.1583G>C (p.Ser528Thr) c.1637G>C (p.Ser546Thr) c.97-6085G>C c.326G>C (p.Ser109Thr) n.124G>C c.*959G>C (n.*959G>C) c.124G>C 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) | dbSNP |
| 5 | g.112828866G= | CA1573508596 | APC | c.1409-6085G= (n.1409-6085G=) c.1691G= (p.Ser564=) n.1693G= c.*1643G= (n.*1643G=) c.1583G= (p.Ser528=) c.1637G= (p.Ser546=) c.97-6085G= c.326G= (p.Ser109=) n.124G= c.*959G= (n.*959G=) c.124G= 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=) | |
| 5 | g.112828866G>T | CA16024885 | APC | c.1409-6085G>T (n.1409-6085G>T) c.1691G>T (p.Ser564Ile) n.1693G>T c.*1643G>T (n.*1643G>T) c.1583G>T (p.Ser528Ile) c.1637G>T (p.Ser546Ile) c.97-6085G>T c.326G>T (p.Ser109Ile) n.124G>T c.*959G>T (n.*959G>T) c.124G>T 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 |
| 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=) |