| 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.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) | |
| 5 | g.112828877A>G | CA16024909 | APC | c.1409-6074A>G (n.1409-6074A>G) c.1702A>G (p.Asn568Asp) n.1704A>G c.*1654A>G (n.*1654A>G) c.1594A>G (p.Asn532Asp) c.1648A>G (p.Asn550Asp) c.97-6074A>G c.337A>G (p.Asn113Asp) n.135A>G c.*970A>G (n.*970A>G) c.135A>G c.1678A>G (p.Asn560Asp) c.1573A>G (p.Asn525Asp) c.1564A>G (p.Asn522Asp) c.1525A>G (p.Asn509Asp) c.1471A>G (p.Asn491Asp) c.1375A>G (p.Asn459Asp) c.1345A>G (p.Asn449Asp) c.1270A>G (p.Asn424Asp) c.1168A>G (p.Asn390Asp) c.799A>G (p.Asn267Asp) | dbSNP |
| 5 | g.112828877A>T | CA16024910 | APC | c.1409-6074A>T (n.1409-6074A>T) c.1702A>T (p.Asn568Tyr) n.1704A>T c.*1654A>T (n.*1654A>T) c.1594A>T (p.Asn532Tyr) c.1648A>T (p.Asn550Tyr) c.97-6074A>T c.337A>T (p.Asn113Tyr) n.135A>T c.*970A>T (n.*970A>T) c.135A>T c.1678A>T (p.Asn560Tyr) c.1573A>T (p.Asn525Tyr) c.1564A>T (p.Asn522Tyr) c.1525A>T (p.Asn509Tyr) c.1471A>T (p.Asn491Tyr) c.1375A>T (p.Asn459Tyr) c.1345A>T (p.Asn449Tyr) c.1270A>T (p.Asn424Tyr) c.1168A>T (p.Asn390Tyr) c.799A>T (p.Asn267Tyr) | ClinVar dbSNP |
| 5 | g.112828878A>C | CA16024911 | APC | c.1409-6073A>C (n.1409-6073A>C) c.1703A>C (p.Asn568Thr) n.1705A>C c.*1655A>C (n.*1655A>C) c.1595A>C (p.Asn532Thr) c.1649A>C (p.Asn550Thr) c.97-6073A>C c.338A>C (p.Asn113Thr) n.136A>C c.*971A>C (n.*971A>C) c.136A>C c.1679A>C (p.Asn560Thr) c.1574A>C (p.Asn525Thr) c.1565A>C (p.Asn522Thr) c.1526A>C (p.Asn509Thr) c.1472A>C (p.Asn491Thr) c.1376A>C (p.Asn459Thr) c.1346A>C (p.Asn449Thr) c.1271A>C (p.Asn424Thr) c.1169A>C (p.Asn390Thr) c.800A>C (p.Asn267Thr) | |
| 5 | g.112828878A>G | CA16024912 | APC | c.1409-6073A>G (n.1409-6073A>G) c.1703A>G (p.Asn568Ser) n.1705A>G c.*1655A>G (n.*1655A>G) c.1595A>G (p.Asn532Ser) c.1649A>G (p.Asn550Ser) c.97-6073A>G c.338A>G (p.Asn113Ser) n.136A>G c.*971A>G (n.*971A>G) c.136A>G c.1679A>G (p.Asn560Ser) c.1574A>G (p.Asn525Ser) c.1565A>G (p.Asn522Ser) c.1526A>G (p.Asn509Ser) c.1472A>G (p.Asn491Ser) c.1376A>G (p.Asn459Ser) c.1346A>G (p.Asn449Ser) c.1271A>G (p.Asn424Ser) c.1169A>G (p.Asn390Ser) c.800A>G (p.Asn267Ser) | |
| 5 | g.112828878A>T | CA16024913 | APC | c.1409-6073A>T (n.1409-6073A>T) c.1703A>T (p.Asn568Ile) n.1705A>T c.*1655A>T (n.*1655A>T) c.1595A>T (p.Asn532Ile) c.1649A>T (p.Asn550Ile) c.97-6073A>T c.338A>T (p.Asn113Ile) n.136A>T c.*971A>T (n.*971A>T) c.136A>T c.1679A>T (p.Asn560Ile) c.1574A>T (p.Asn525Ile) c.1565A>T (p.Asn522Ile) c.1526A>T (p.Asn509Ile) c.1472A>T (p.Asn491Ile) c.1376A>T (p.Asn459Ile) c.1346A>T (p.Asn449Ile) c.1271A>T (p.Asn424Ile) c.1169A>T (p.Asn390Ile) c.800A>T (p.Asn267Ile) | |
| 5 | g.112828878_112828879delinsAT | CA1573508643 | APC | c.1409-6073_1409-6072delinsAT (n.1409-6073_1409-6072delinsAT) c.1703_1704delinsAT (p.Asn568=) n.1705_1706delinsAT c.*1655_*1656delinsAT (n.*1655_*1656delinsAT) c.1595_1596delinsAT (p.Asn532=) c.1649_1650delinsAT (p.Asn550=) c.97-6073_97-6072delinsAT c.338_339delinsAT (p.Asn113=) n.136_137delinsAT c.*971_*972delinsAT (n.*971_*972delinsAT) c.136_137delinsAT c.1679_1680delinsAT (p.Asn560=) c.1574_1575delinsAT (p.Asn525=) c.1565_1566delinsAT (p.Asn522=) c.1526_1527delinsAT (p.Asn509=) c.1472_1473delinsAT (p.Asn491=) c.1376_1377delinsAT (p.Asn459=) c.1346_1347delinsAT (p.Asn449=) c.1271_1272delinsAT (p.Asn424=) c.1169_1170delinsAT (p.Asn390=) c.800_801delinsAT (p.Asn267=) | |
| 5 | g.112828879T>A | CA16024914 | APC | c.1409-6072T>A (n.1409-6072T>A) c.1704T>A (p.Asn568Lys) n.1706T>A c.*1656T>A (n.*1656T>A) c.1596T>A (p.Asn532Lys) c.1650T>A (p.Asn550Lys) c.97-6072T>A c.339T>A (p.Asn113Lys) n.137T>A c.*972T>A (n.*972T>A) c.137T>A c.1680T>A (p.Asn560Lys) c.1575T>A (p.Asn525Lys) c.1566T>A (p.Asn522Lys) c.1527T>A (p.Asn509Lys) c.1473T>A (p.Asn491Lys) c.1377T>A (p.Asn459Lys) c.1347T>A (p.Asn449Lys) c.1272T>A (p.Asn424Lys) c.1170T>A (p.Asn390Lys) c.801T>A (p.Asn267Lys) | |
| 5 | g.112828879T>C | CA445757383 | APC | c.1409-6072T>C (n.1409-6072T>C) c.1704T>C (p.Asn568=) n.1706T>C c.*1656T>C (n.*1656T>C) c.1596T>C (p.Asn532=) c.1650T>C (p.Asn550=) c.97-6072T>C c.339T>C (p.Asn113=) n.137T>C c.*972T>C (n.*972T>C) c.137T>C c.1680T>C (p.Asn560=) c.1575T>C (p.Asn525=) c.1566T>C (p.Asn522=) c.1527T>C (p.Asn509=) c.1473T>C (p.Asn491=) c.1377T>C (p.Asn459=) c.1347T>C (p.Asn449=) c.1272T>C (p.Asn424=) c.1170T>C (p.Asn390=) c.801T>C (p.Asn267=) | |
| 5 | g.112828879T>G | CA16024915 | APC | c.1409-6072T>G (n.1409-6072T>G) c.1704T>G (p.Asn568Lys) n.1706T>G c.*1656T>G (n.*1656T>G) c.1596T>G (p.Asn532Lys) c.1650T>G (p.Asn550Lys) c.97-6072T>G c.339T>G (p.Asn113Lys) n.137T>G c.*972T>G (n.*972T>G) c.137T>G c.1680T>G (p.Asn560Lys) c.1575T>G (p.Asn525Lys) c.1566T>G (p.Asn522Lys) c.1527T>G (p.Asn509Lys) c.1473T>G (p.Asn491Lys) c.1377T>G (p.Asn459Lys) c.1347T>G (p.Asn449Lys) c.1272T>G (p.Asn424Lys) c.1170T>G (p.Asn390Lys) c.801T>G (p.Asn267Lys) | |
| 5 | g.112828881del | CA658822393 | APC | c.1409-6070del (n.1409-6070del) c.1706del (p.Leu569CysfsTer7) n.1708del c.*1658del (n.*1658del) c.1598del (p.Leu533CysfsTer7) c.1652del (p.Leu551CysfsTer7) c.97-6070del c.341del (p.Leu114CysfsTer7) n.139del c.*974del (n.*974del) c.139del c.1682del (p.Leu561CysfsTer7) c.1577del (p.Leu526CysfsTer7) c.1568del (p.Leu523CysfsTer7) c.1529del (p.Leu510CysfsTer7) c.1475del (p.Leu492CysfsTer7) c.1379del (p.Leu460CysfsTer7) c.1349del (p.Leu450CysfsTer7) c.1274del (p.Leu425CysfsTer7) c.1172del (p.Leu391CysfsTer7) c.803del (p.Leu268CysfsTer7) | ClinVar dbSNP |
| 5 | g.112828879_112828884delinsTTTGTC | CA1573508653 | APC | c.1409-6072_1409-6067delinsTTTGTC (n.1409-6072_1409-6067delinsTTTGTC) c.1704_1709delinsTTTGTC (p.Asn568=) n.1706_1711delinsTTTGTC c.*1656_*1661delinsTTTGTC (n.*1656_*1661delinsTTTGTC) c.1596_1601delinsTTTGTC (p.Asn532=) c.1650_1655delinsTTTGTC (p.Asn550=) c.97-6072_97-6067delinsTTTGTC c.339_344delinsTTTGTC (p.Asn113=) n.137_142delinsTTTGTC c.*972_*977delinsTTTGTC (n.*972_*977delinsTTTGTC) c.137_142delinsTTTGTC c.1680_1685delinsTTTGTC (p.Asn560=) c.1575_1580delinsTTTGTC (p.Asn525=) c.1566_1571delinsTTTGTC (p.Asn522=) c.1527_1532delinsTTTGTC (p.Asn509=) c.1473_1478delinsTTTGTC (p.Asn491=) c.1377_1382delinsTTTGTC (p.Asn459=) c.1347_1352delinsTTTGTC (p.Asn449=) c.1272_1277delinsTTTGTC (p.Asn424=) c.1170_1175delinsTTTGTC (p.Asn390=) c.801_806delinsTTTGTC (p.Asn267=) | |
| 5 | g.112828880T>A | CA16024916 | APC | c.1409-6071T>A (n.1409-6071T>A) c.1705T>A (p.Leu569Met) n.1707T>A c.*1657T>A (n.*1657T>A) c.1597T>A (p.Leu533Met) c.1651T>A (p.Leu551Met) c.97-6071T>A c.340T>A (p.Leu114Met) n.138T>A c.*973T>A (n.*973T>A) c.138T>A c.1681T>A (p.Leu561Met) c.1576T>A (p.Leu526Met) c.1567T>A (p.Leu523Met) c.1528T>A (p.Leu510Met) c.1474T>A (p.Leu492Met) c.1378T>A (p.Leu460Met) c.1348T>A (p.Leu450Met) c.1273T>A (p.Leu425Met) c.1171T>A (p.Leu391Met) c.802T>A (p.Leu268Met) | |
| 5 | g.112828880T>C | CA445757384 | APC | c.1409-6071T>C (n.1409-6071T>C) c.1705T>C (p.Leu569=) n.1707T>C c.*1657T>C (n.*1657T>C) c.1597T>C (p.Leu533=) c.1651T>C (p.Leu551=) c.97-6071T>C c.340T>C (p.Leu114=) n.138T>C c.*973T>C (n.*973T>C) c.138T>C c.1681T>C (p.Leu561=) c.1576T>C (p.Leu526=) c.1567T>C (p.Leu523=) c.1528T>C (p.Leu510=) c.1474T>C (p.Leu492=) c.1378T>C (p.Leu460=) c.1348T>C (p.Leu450=) c.1273T>C (p.Leu425=) c.1171T>C (p.Leu391=) c.802T>C (p.Leu268=) | ClinVar |
| 5 | g.112828880T>G | CA16024917 | APC | c.1409-6071T>G (n.1409-6071T>G) c.1705T>G (p.Leu569Val) n.1707T>G c.*1657T>G (n.*1657T>G) c.1597T>G (p.Leu533Val) c.1651T>G (p.Leu551Val) c.97-6071T>G c.340T>G (p.Leu114Val) n.138T>G c.*973T>G (n.*973T>G) c.138T>G c.1681T>G (p.Leu561Val) c.1576T>G (p.Leu526Val) c.1567T>G (p.Leu523Val) c.1528T>G (p.Leu510Val) c.1474T>G (p.Leu492Val) c.1378T>G (p.Leu460Val) c.1348T>G (p.Leu450Val) c.1273T>G (p.Leu425Val) c.1171T>G (p.Leu391Val) c.802T>G (p.Leu268Val) | |
| 5 | g.112828883_112828887del | CA10578322 | APC | c.1409-6068_1409-6064del (n.1409-6068_1409-6064del) c.1708_1712del (p.Ser570AlafsTer6) n.1710_1714del c.*1660_*1664del (n.*1660_*1664del) c.1600_1604del (p.Ser534AlafsTer6) c.1654_1658del (p.Ser552AlafsTer6) c.97-6068_97-6064del c.343_347del (p.Ser115AlafsTer6) n.141_145del c.*976_*980del (n.*976_*980del) c.141_145del c.1684_1688del (p.Ser562AlafsTer6) c.1579_1583del (p.Ser527AlafsTer6) c.1570_1574del (p.Ser524AlafsTer6) c.1531_1535del (p.Ser511AlafsTer6) c.1477_1481del (p.Ser493AlafsTer6) c.1381_1385del (p.Ser461AlafsTer6) c.1351_1355del (p.Ser451AlafsTer6) c.1276_1280del (p.Ser426AlafsTer6) c.1174_1178del (p.Ser392AlafsTer6) c.805_809del (p.Ser269AlafsTer6) | ClinVar dbSNP |
| 5 | g.112828881T>A | CA16024918 | APC | c.1409-6070T>A (n.1409-6070T>A) c.1706T>A (p.Leu569Ter) n.1708T>A c.*1658T>A (n.*1658T>A) c.1598T>A (p.Leu533Ter) c.1652T>A (p.Leu551Ter) c.97-6070T>A c.341T>A (p.Leu114Ter) n.139T>A c.*974T>A (n.*974T>A) c.139T>A c.1682T>A (p.Leu561Ter) c.1577T>A (p.Leu526Ter) c.1568T>A (p.Leu523Ter) c.1529T>A (p.Leu510Ter) c.1475T>A (p.Leu492Ter) c.1379T>A (p.Leu460Ter) c.1349T>A (p.Leu450Ter) c.1274T>A (p.Leu425Ter) c.1172T>A (p.Leu391Ter) c.803T>A (p.Leu268Ter) | ClinVar dbSNP |
| 5 | g.112828881T>C | CA16024919 | APC | c.1409-6070T>C (n.1409-6070T>C) c.1706T>C (p.Leu569Ser) n.1708T>C c.*1658T>C (n.*1658T>C) c.1598T>C (p.Leu533Ser) c.1652T>C (p.Leu551Ser) c.97-6070T>C c.341T>C (p.Leu114Ser) n.139T>C c.*974T>C (n.*974T>C) c.139T>C c.1682T>C (p.Leu561Ser) c.1577T>C (p.Leu526Ser) c.1568T>C (p.Leu523Ser) c.1529T>C (p.Leu510Ser) c.1475T>C (p.Leu492Ser) c.1379T>C (p.Leu460Ser) c.1349T>C (p.Leu450Ser) c.1274T>C (p.Leu425Ser) c.1172T>C (p.Leu391Ser) c.803T>C (p.Leu268Ser) | |
| 5 | g.112828881T>G | CA16024920 | APC | c.1409-6070T>G (n.1409-6070T>G) c.1706T>G (p.Leu569Trp) n.1708T>G c.*1658T>G (n.*1658T>G) c.1598T>G (p.Leu533Trp) c.1652T>G (p.Leu551Trp) c.97-6070T>G c.341T>G (p.Leu114Trp) n.139T>G c.*974T>G (n.*974T>G) c.139T>G c.1682T>G (p.Leu561Trp) c.1577T>G (p.Leu526Trp) c.1568T>G (p.Leu523Trp) c.1529T>G (p.Leu510Trp) c.1475T>G (p.Leu492Trp) c.1379T>G (p.Leu460Trp) c.1349T>G (p.Leu450Trp) c.1274T>G (p.Leu425Trp) c.1172T>G (p.Leu391Trp) c.803T>G (p.Leu268Trp) | |
| 5 | g.112828882G>A | CA445757385 | APC | c.1409-6069G>A (n.1409-6069G>A) c.1707G>A (p.Leu569=) n.1709G>A c.*1659G>A (n.*1659G>A) c.1599G>A (p.Leu533=) c.1653G>A (p.Leu551=) c.97-6069G>A c.342G>A (p.Leu114=) n.140G>A c.*975G>A (n.*975G>A) c.140G>A c.1683G>A (p.Leu561=) c.1578G>A (p.Leu526=) c.1569G>A (p.Leu523=) c.1530G>A (p.Leu510=) c.1476G>A (p.Leu492=) c.1380G>A (p.Leu460=) c.1350G>A (p.Leu450=) c.1275G>A (p.Leu425=) c.1173G>A (p.Leu391=) c.804G>A (p.Leu268=) | ClinVar gnomAD v4 |
| 5 | g.112828882G>C | CA16024921 | APC | c.1409-6069G>C (n.1409-6069G>C) c.1707G>C (p.Leu569Phe) n.1709G>C c.*1659G>C (n.*1659G>C) c.1599G>C (p.Leu533Phe) c.1653G>C (p.Leu551Phe) c.97-6069G>C c.342G>C (p.Leu114Phe) n.140G>C c.*975G>C (n.*975G>C) c.140G>C c.1683G>C (p.Leu561Phe) c.1578G>C (p.Leu526Phe) c.1569G>C (p.Leu523Phe) c.1530G>C (p.Leu510Phe) c.1476G>C (p.Leu492Phe) c.1380G>C (p.Leu460Phe) c.1350G>C (p.Leu450Phe) c.1275G>C (p.Leu425Phe) c.1173G>C (p.Leu391Phe) c.804G>C (p.Leu268Phe) | dbSNP |
| 5 | g.112828882G>T | CA16024922 | APC | c.1409-6069G>T (n.1409-6069G>T) c.1707G>T (p.Leu569Phe) n.1709G>T c.*1659G>T (n.*1659G>T) c.1599G>T (p.Leu533Phe) c.1653G>T (p.Leu551Phe) c.97-6069G>T c.342G>T (p.Leu114Phe) n.140G>T c.*975G>T (n.*975G>T) c.140G>T c.1683G>T (p.Leu561Phe) c.1578G>T (p.Leu526Phe) c.1569G>T (p.Leu523Phe) c.1530G>T (p.Leu510Phe) c.1476G>T (p.Leu492Phe) c.1380G>T (p.Leu460Phe) c.1350G>T (p.Leu450Phe) c.1275G>T (p.Leu425Phe) c.1173G>T (p.Leu391Phe) c.804G>T (p.Leu268Phe) | dbSNP |
| 5 | g.112828883_112828892del | CA658760511 | APC | c.1409-6068_1409-6059del (n.1409-6068_1409-6059del) c.1708_1717del (p.Ser570GlnfsTer3) n.1710_1719del c.*1660_*1669del (n.*1660_*1669del) c.1600_1609del (p.Ser534GlnfsTer3) c.1654_1663del (p.Ser552GlnfsTer3) c.97-6068_97-6059del c.343_352del (p.Ser115GlnfsTer3) n.141_150del c.*976_*985del (n.*976_*985del) c.141_150del c.1684_1693del (p.Ser562GlnfsTer3) c.1579_1588del (p.Ser527GlnfsTer3) c.1570_1579del (p.Ser524GlnfsTer3) c.1531_1540del (p.Ser511GlnfsTer3) c.1477_1486del (p.Ser493GlnfsTer3) c.1381_1390del (p.Ser461GlnfsTer3) c.1351_1360del (p.Ser451GlnfsTer3) c.1276_1285del (p.Ser426GlnfsTer3) c.1174_1183del (p.Ser392GlnfsTer3) c.805_814del (p.Ser269GlnfsTer3) | |
| 5 | g.112828883T>A | CA16024923 | APC | c.1409-6068T>A (n.1409-6068T>A) c.1708T>A (p.Ser570Thr) n.1710T>A c.*1660T>A (n.*1660T>A) c.1600T>A (p.Ser534Thr) c.1654T>A (p.Ser552Thr) c.97-6068T>A c.343T>A (p.Ser115Thr) n.141T>A c.*976T>A (n.*976T>A) c.141T>A c.1684T>A (p.Ser562Thr) c.1579T>A (p.Ser527Thr) c.1570T>A (p.Ser524Thr) c.1531T>A (p.Ser511Thr) c.1477T>A (p.Ser493Thr) c.1381T>A (p.Ser461Thr) c.1351T>A (p.Ser451Thr) c.1276T>A (p.Ser426Thr) c.1174T>A (p.Ser392Thr) c.805T>A (p.Ser269Thr) | dbSNP |
| 5 | g.112828883T>C | CA16024924 | APC | c.1409-6068T>C (n.1409-6068T>C) c.1708T>C (p.Ser570Pro) n.1710T>C c.*1660T>C (n.*1660T>C) c.1600T>C (p.Ser534Pro) c.1654T>C (p.Ser552Pro) c.97-6068T>C c.343T>C (p.Ser115Pro) n.141T>C c.*976T>C (n.*976T>C) c.141T>C c.1684T>C (p.Ser562Pro) c.1579T>C (p.Ser527Pro) c.1570T>C (p.Ser524Pro) c.1531T>C (p.Ser511Pro) c.1477T>C (p.Ser493Pro) c.1381T>C (p.Ser461Pro) c.1351T>C (p.Ser451Pro) c.1276T>C (p.Ser426Pro) c.1174T>C (p.Ser392Pro) c.805T>C (p.Ser269Pro) | |
| 5 | g.112828883T>G | CA16024925 | APC | c.1409-6068T>G (n.1409-6068T>G) c.1708T>G (p.Ser570Ala) n.1710T>G c.*1660T>G (n.*1660T>G) c.1600T>G (p.Ser534Ala) c.1654T>G (p.Ser552Ala) c.97-6068T>G c.343T>G (p.Ser115Ala) n.141T>G c.*976T>G (n.*976T>G) c.141T>G c.1684T>G (p.Ser562Ala) c.1579T>G (p.Ser527Ala) c.1570T>G (p.Ser524Ala) c.1531T>G (p.Ser511Ala) c.1477T>G (p.Ser493Ala) c.1381T>G (p.Ser461Ala) c.1351T>G (p.Ser451Ala) c.1276T>G (p.Ser426Ala) c.1174T>G (p.Ser392Ala) c.805T>G (p.Ser269Ala) | |
| 5 | g.112828884C>A | CA16024926 | APC | c.1409-6067C>A (n.1409-6067C>A) c.1709C>A (p.Ser570Tyr) n.1711C>A c.*1661C>A (n.*1661C>A) c.1601C>A (p.Ser534Tyr) c.1655C>A (p.Ser552Tyr) c.97-6067C>A c.344C>A (p.Ser115Tyr) n.142C>A c.*977C>A (n.*977C>A) c.142C>A c.1685C>A (p.Ser562Tyr) c.1580C>A (p.Ser527Tyr) c.1571C>A (p.Ser524Tyr) c.1532C>A (p.Ser511Tyr) c.1478C>A (p.Ser493Tyr) c.1382C>A (p.Ser461Tyr) c.1352C>A (p.Ser451Tyr) c.1277C>A (p.Ser426Tyr) c.1175C>A (p.Ser392Tyr) c.806C>A (p.Ser269Tyr) | |
| 5 | g.112828884C= | CA1573508670 | APC | c.1409-6067C= (n.1409-6067C=) c.1709C= (p.Ser570=) n.1711C= c.*1661C= (n.*1661C=) c.1601C= (p.Ser534=) c.1655C= (p.Ser552=) c.97-6067C= c.344C= (p.Ser115=) n.142C= c.*977C= (n.*977C=) c.142C= c.1685C= (p.Ser562=) c.1580C= (p.Ser527=) c.1571C= (p.Ser524=) c.1532C= (p.Ser511=) c.1478C= (p.Ser493=) c.1382C= (p.Ser461=) c.1352C= (p.Ser451=) c.1277C= (p.Ser426=) c.1175C= (p.Ser392=) c.806C= (p.Ser269=) | |
| 5 | g.112828884C>G | CA16024927 | APC | c.1409-6067C>G (n.1409-6067C>G) c.1709C>G (p.Ser570Cys) n.1711C>G c.*1661C>G (n.*1661C>G) c.1601C>G (p.Ser534Cys) c.1655C>G (p.Ser552Cys) c.97-6067C>G c.344C>G (p.Ser115Cys) n.142C>G c.*977C>G (n.*977C>G) c.142C>G c.1685C>G (p.Ser562Cys) c.1580C>G (p.Ser527Cys) c.1571C>G (p.Ser524Cys) c.1532C>G (p.Ser511Cys) c.1478C>G (p.Ser493Cys) c.1382C>G (p.Ser461Cys) c.1352C>G (p.Ser451Cys) c.1277C>G (p.Ser426Cys) c.1175C>G (p.Ser392Cys) c.806C>G (p.Ser269Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112828884C>T | CA16024928 | APC | c.1409-6067C>T (n.1409-6067C>T) c.1709C>T (p.Ser570Phe) n.1711C>T c.*1661C>T (n.*1661C>T) c.1601C>T (p.Ser534Phe) c.1655C>T (p.Ser552Phe) c.97-6067C>T c.344C>T (p.Ser115Phe) n.142C>T c.*977C>T (n.*977C>T) c.142C>T c.1685C>T (p.Ser562Phe) c.1580C>T (p.Ser527Phe) c.1571C>T (p.Ser524Phe) c.1532C>T (p.Ser511Phe) c.1478C>T (p.Ser493Phe) c.1382C>T (p.Ser461Phe) c.1352C>T (p.Ser451Phe) c.1277C>T (p.Ser426Phe) c.1175C>T (p.Ser392Phe) c.806C>T (p.Ser269Phe) | dbSNP |
| 5 | g.112828884_112828885delinsCT | CA1573508672 | APC | c.1409-6067_1409-6066delinsCT (n.1409-6067_1409-6066delinsCT) c.1709_1710delinsCT (p.Ser570=) n.1711_1712delinsCT c.*1661_*1662delinsCT (n.*1661_*1662delinsCT) c.1601_1602delinsCT (p.Ser534=) c.1655_1656delinsCT (p.Ser552=) c.97-6067_97-6066delinsCT c.344_345delinsCT (p.Ser115=) n.142_143delinsCT c.*977_*978delinsCT (n.*977_*978delinsCT) c.142_143delinsCT c.1685_1686delinsCT (p.Ser562=) c.1580_1581delinsCT (p.Ser527=) c.1571_1572delinsCT (p.Ser524=) c.1532_1533delinsCT (p.Ser511=) c.1478_1479delinsCT (p.Ser493=) c.1382_1383delinsCT (p.Ser461=) c.1352_1353delinsCT (p.Ser451=) c.1277_1278delinsCT (p.Ser426=) c.1175_1176delinsCT (p.Ser392=) c.806_807delinsCT (p.Ser269=) | |
| 5 | g.112828885T>A | CA445757386 | APC | c.1409-6066T>A (n.1409-6066T>A) c.1710T>A (p.Ser570=) n.1712T>A c.*1662T>A (n.*1662T>A) c.1602T>A (p.Ser534=) c.1656T>A (p.Ser552=) c.97-6066T>A c.345T>A (p.Ser115=) n.143T>A c.*978T>A (n.*978T>A) c.143T>A c.1686T>A (p.Ser562=) c.1581T>A (p.Ser527=) c.1572T>A (p.Ser524=) c.1533T>A (p.Ser511=) c.1479T>A (p.Ser493=) c.1383T>A (p.Ser461=) c.1353T>A (p.Ser451=) c.1278T>A (p.Ser426=) c.1176T>A (p.Ser392=) c.807T>A (p.Ser269=) | |
| 5 | g.112828885T>C | CA445757387 | APC | c.1409-6066T>C (n.1409-6066T>C) c.1710T>C (p.Ser570=) n.1712T>C c.*1662T>C (n.*1662T>C) c.1602T>C (p.Ser534=) c.1656T>C (p.Ser552=) c.97-6066T>C c.345T>C (p.Ser115=) n.143T>C c.*978T>C (n.*978T>C) c.143T>C c.1686T>C (p.Ser562=) c.1581T>C (p.Ser527=) c.1572T>C (p.Ser524=) c.1533T>C (p.Ser511=) c.1479T>C (p.Ser493=) c.1383T>C (p.Ser461=) c.1353T>C (p.Ser451=) c.1278T>C (p.Ser426=) c.1176T>C (p.Ser392=) c.807T>C (p.Ser269=) | gnomAD v4 |
| 5 | g.112828885T>G | CA445757388 | APC | c.1409-6066T>G (n.1409-6066T>G) c.1710T>G (p.Ser570=) n.1712T>G c.*1662T>G (n.*1662T>G) c.1602T>G (p.Ser534=) c.1656T>G (p.Ser552=) c.97-6066T>G c.345T>G (p.Ser115=) n.143T>G c.*978T>G (n.*978T>G) c.143T>G c.1686T>G (p.Ser562=) c.1581T>G (p.Ser527=) c.1572T>G (p.Ser524=) c.1533T>G (p.Ser511=) c.1479T>G (p.Ser493=) c.1383T>G (p.Ser461=) c.1353T>G (p.Ser451=) c.1278T>G (p.Ser426=) c.1176T>G (p.Ser392=) c.807T>G (p.Ser269=) | ClinVar dbSNP |
| 5 | g.112828885T= | CA1573508684 | APC | c.1409-6066T= (n.1409-6066T=) c.1710T= (p.Ser570=) n.1712T= c.*1662T= (n.*1662T=) c.1602T= (p.Ser534=) c.1656T= (p.Ser552=) c.97-6066T= c.345T= (p.Ser115=) n.143T= c.*978T= (n.*978T=) c.143T= c.1686T= (p.Ser562=) c.1581T= (p.Ser527=) c.1572T= (p.Ser524=) c.1533T= (p.Ser511=) c.1479T= (p.Ser493=) c.1383T= (p.Ser461=) c.1353T= (p.Ser451=) c.1278T= (p.Ser426=) c.1176T= (p.Ser392=) c.807T= (p.Ser269=) | |
| 5 | g.112828886del | CA645369350 | APC | c.1409-6065del (n.1409-6065del) c.1711del (p.Trp571GlyfsTer5) n.1713del c.*1663del (n.*1663del) c.1603del (p.Trp535GlyfsTer5) c.1657del (p.Trp553GlyfsTer5) c.97-6065del c.346del (p.Trp116GlyfsTer5) n.144del c.*979del (n.*979del) c.144del c.1687del (p.Trp563GlyfsTer5) c.1582del (p.Trp528GlyfsTer5) c.1573del (p.Trp525GlyfsTer5) c.1534del (p.Trp512GlyfsTer5) c.1480del (p.Trp494GlyfsTer5) c.1384del (p.Trp462GlyfsTer5) c.1354del (p.Trp452GlyfsTer5) c.1279del (p.Trp427GlyfsTer5) c.1177del (p.Trp393GlyfsTer5) c.808del (p.Trp270GlyfsTer5) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828886T>A | CA16024929 | APC | c.1409-6065T>A (n.1409-6065T>A) c.1711T>A (p.Trp571Arg) n.1713T>A c.*1663T>A (n.*1663T>A) c.1603T>A (p.Trp535Arg) c.1657T>A (p.Trp553Arg) c.97-6065T>A c.346T>A (p.Trp116Arg) n.144T>A c.*979T>A (n.*979T>A) c.144T>A c.1687T>A (p.Trp563Arg) c.1582T>A (p.Trp528Arg) c.1573T>A (p.Trp525Arg) c.1534T>A (p.Trp512Arg) c.1480T>A (p.Trp494Arg) c.1384T>A (p.Trp462Arg) c.1354T>A (p.Trp452Arg) c.1279T>A (p.Trp427Arg) c.1177T>A (p.Trp393Arg) c.808T>A (p.Trp270Arg) |