UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.112828916_112828920del | CA2695205033 | APC | c.1409-6035_1409-6031del (n.1409-6035_1409-6031del) c.1741_1745del (p.Leu581ArgfsTer16) n.1743_1747del c.*1693_*1697del (n.*1693_*1697del) c.1633_1637del (p.Leu545ArgfsTer16) c.1687_1691del (p.Leu563ArgfsTer16) c.97-6035_97-6031del c.376_380del (p.Leu126ArgfsTer16) n.174_178del c.*1009_*1013del (n.*1009_*1013del) c.174_178del c.1717_1721del (p.Leu573ArgfsTer16) c.1612_1616del (p.Leu538ArgfsTer16) c.1603_1607del (p.Leu535ArgfsTer16) c.1564_1568del (p.Leu522ArgfsTer16) c.1510_1514del (p.Leu504ArgfsTer16) c.1414_1418del (p.Leu472ArgfsTer16) c.1384_1388del (p.Leu462ArgfsTer16) c.1309_1313del (p.Leu437ArgfsTer16) c.1207_1211del (p.Leu403ArgfsTer16) c.838_842del (p.Leu280ArgfsTer16) | |
| 5 | g.112828919del | CA2582341397 | APC | c.1409-6032del (n.1409-6032del) c.1744del (p.Arg582GlufsTer6) n.1746del c.*1696del (n.*1696del) c.1636del (p.Arg546GlufsTer6) c.1690del (p.Arg564GlufsTer6) c.97-6032del c.379del (p.Arg127GlufsTer6) n.177del c.*1012del (n.*1012del) c.177del c.1720del (p.Arg574GlufsTer6) c.1615del (p.Arg539GlufsTer6) c.1606del (p.Arg536GlufsTer6) c.1567del (p.Arg523GlufsTer6) c.1513del (p.Arg505GlufsTer6) c.1417del (p.Arg473GlufsTer6) c.1387del (p.Arg463GlufsTer6) c.1312del (p.Arg438GlufsTer6) c.1210del (p.Arg404GlufsTer6) c.841del (p.Arg281GlufsTer6) | ClinVar |
| 5 | g.112828919C>A | CA445757406 | APC | c.1409-6032C>A (n.1409-6032C>A) c.1744C>A (p.Arg582=) n.1746C>A c.*1696C>A (n.*1696C>A) c.1636C>A (p.Arg546=) c.1690C>A (p.Arg564=) c.97-6032C>A c.379C>A (p.Arg127=) n.177C>A c.*1012C>A (n.*1012C>A) c.177C>A c.1720C>A (p.Arg574=) c.1615C>A (p.Arg539=) c.1606C>A (p.Arg536=) c.1567C>A (p.Arg523=) c.1513C>A (p.Arg505=) c.1417C>A (p.Arg473=) c.1387C>A (p.Arg463=) c.1312C>A (p.Arg438=) c.1210C>A (p.Arg404=) c.841C>A (p.Arg281=) | dbSNP |
| 5 | g.112828919C= | CA1573508823 | APC | c.1409-6032C= (n.1409-6032C=) c.1744C= (p.Arg582=) n.1746C= c.*1696C= (n.*1696C=) c.1636C= (p.Arg546=) c.1690C= (p.Arg564=) c.97-6032C= c.379C= (p.Arg127=) n.177C= c.*1012C= (n.*1012C=) c.177C= c.1720C= (p.Arg574=) c.1615C= (p.Arg539=) c.1606C= (p.Arg536=) c.1567C= (p.Arg523=) c.1513C= (p.Arg505=) c.1417C= (p.Arg473=) c.1387C= (p.Arg463=) c.1312C= (p.Arg438=) c.1210C= (p.Arg404=) c.841C= (p.Arg281=) | |
| 5 | g.112828919C>G | CA16025002 | APC | c.1409-6032C>G (n.1409-6032C>G) c.1744C>G (p.Arg582Gly) n.1746C>G c.*1696C>G (n.*1696C>G) c.1636C>G (p.Arg546Gly) c.1690C>G (p.Arg564Gly) c.97-6032C>G c.379C>G (p.Arg127Gly) n.177C>G c.*1012C>G (n.*1012C>G) c.177C>G c.1720C>G (p.Arg574Gly) c.1615C>G (p.Arg539Gly) c.1606C>G (p.Arg536Gly) c.1567C>G (p.Arg523Gly) c.1513C>G (p.Arg505Gly) c.1417C>G (p.Arg473Gly) c.1387C>G (p.Arg463Gly) c.1312C>G (p.Arg438Gly) c.1210C>G (p.Arg404Gly) c.841C>G (p.Arg281Gly) | dbSNP |
| 5 | g.112828919C>T | CA005451 | APC | c.1409-6032C>T (n.1409-6032C>T) c.1744C>T (p.Arg582Ter) n.1746C>T c.*1696C>T (n.*1696C>T) c.1636C>T (p.Arg546Ter) c.1690C>T (p.Arg564Ter) c.97-6032C>T c.379C>T (p.Arg127Ter) n.177C>T c.*1012C>T (n.*1012C>T) c.177C>T c.1720C>T (p.Arg574Ter) c.1615C>T (p.Arg539Ter) c.1606C>T (p.Arg536Ter) c.1567C>T (p.Arg523Ter) c.1513C>T (p.Arg505Ter) c.1417C>T (p.Arg473Ter) c.1387C>T (p.Arg463Ter) c.1312C>T (p.Arg438Ter) c.1210C>T (p.Arg404Ter) c.841C>T (p.Arg281Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112828920G>A | CA029022 | APC | c.1409-6031G>A (n.1409-6031G>A) c.1745G>A (p.Arg582Gln) n.1747G>A c.*1697G>A (n.*1697G>A) c.1637G>A (p.Arg546Gln) c.1691G>A (p.Arg564Gln) c.97-6031G>A c.380G>A (p.Arg127Gln) n.178G>A c.*1013G>A (n.*1013G>A) c.178G>A c.1721G>A (p.Arg574Gln) c.1616G>A (p.Arg539Gln) c.1607G>A (p.Arg536Gln) c.1568G>A (p.Arg523Gln) c.1514G>A (p.Arg505Gln) c.1418G>A (p.Arg473Gln) c.1388G>A (p.Arg463Gln) c.1313G>A (p.Arg438Gln) c.1211G>A (p.Arg404Gln) c.842G>A (p.Arg281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112828920G>C | CA16025003 | APC | c.1409-6031G>C (n.1409-6031G>C) c.1745G>C (p.Arg582Pro) n.1747G>C c.*1697G>C (n.*1697G>C) c.1637G>C (p.Arg546Pro) c.1691G>C (p.Arg564Pro) c.97-6031G>C c.380G>C (p.Arg127Pro) n.178G>C c.*1013G>C (n.*1013G>C) c.178G>C c.1721G>C (p.Arg574Pro) c.1616G>C (p.Arg539Pro) c.1607G>C (p.Arg536Pro) c.1568G>C (p.Arg523Pro) c.1514G>C (p.Arg505Pro) c.1418G>C (p.Arg473Pro) c.1388G>C (p.Arg463Pro) c.1313G>C (p.Arg438Pro) c.1211G>C (p.Arg404Pro) c.842G>C (p.Arg281Pro) | dbSNP |
| 5 | g.112828920G= | CA1573508830 | APC | c.1409-6031G= (n.1409-6031G=) c.1745G= (p.Arg582=) n.1747G= c.*1697G= (n.*1697G=) c.1637G= (p.Arg546=) c.1691G= (p.Arg564=) c.97-6031G= c.380G= (p.Arg127=) n.178G= c.*1013G= (n.*1013G=) c.178G= c.1721G= (p.Arg574=) c.1616G= (p.Arg539=) c.1607G= (p.Arg536=) c.1568G= (p.Arg523=) c.1514G= (p.Arg505=) c.1418G= (p.Arg473=) c.1388G= (p.Arg463=) c.1313G= (p.Arg438=) c.1211G= (p.Arg404=) c.842G= (p.Arg281=) | |
| 5 | g.112828920G>T | CA16025004 | APC | c.1409-6031G>T (n.1409-6031G>T) c.1745G>T (p.Arg582Leu) n.1747G>T c.*1697G>T (n.*1697G>T) c.1637G>T (p.Arg546Leu) c.1691G>T (p.Arg564Leu) c.97-6031G>T c.380G>T (p.Arg127Leu) n.178G>T c.*1013G>T (n.*1013G>T) c.178G>T c.1721G>T (p.Arg574Leu) c.1616G>T (p.Arg539Leu) c.1607G>T (p.Arg536Leu) c.1568G>T (p.Arg523Leu) c.1514G>T (p.Arg505Leu) c.1418G>T (p.Arg473Leu) c.1388G>T (p.Arg463Leu) c.1313G>T (p.Arg438Leu) c.1211G>T (p.Arg404Leu) c.842G>T (p.Arg281Leu) | dbSNP gnomAD v4 |
| 5 | g.112828921A= | CA1573508838 | APC | c.1409-6030A= (n.1409-6030A=) c.1746A= (p.Arg582=) n.1748A= c.*1698A= (n.*1698A=) c.1638A= (p.Arg546=) c.1692A= (p.Arg564=) c.97-6030A= c.381A= (p.Arg127=) n.179A= c.*1014A= (n.*1014A=) c.179A= c.1722A= (p.Arg574=) c.1617A= (p.Arg539=) c.1608A= (p.Arg536=) c.1569A= (p.Arg523=) c.1515A= (p.Arg505=) c.1419A= (p.Arg473=) c.1389A= (p.Arg463=) c.1314A= (p.Arg438=) c.1212A= (p.Arg404=) c.843A= (p.Arg281=) | |
| 5 | g.112828921A>C | CA029047 | APC | c.1409-6030A>C (n.1409-6030A>C) c.1746A>C (p.Arg582=) n.1748A>C c.*1698A>C (n.*1698A>C) c.1638A>C (p.Arg546=) c.1692A>C (p.Arg564=) c.97-6030A>C c.381A>C (p.Arg127=) n.179A>C c.*1014A>C (n.*1014A>C) c.179A>C c.1722A>C (p.Arg574=) c.1617A>C (p.Arg539=) c.1608A>C (p.Arg536=) c.1569A>C (p.Arg523=) c.1515A>C (p.Arg505=) c.1419A>C (p.Arg473=) c.1389A>C (p.Arg463=) c.1314A>C (p.Arg438=) c.1212A>C (p.Arg404=) c.843A>C (p.Arg281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112828921A>G | CA445757407 | APC | c.1409-6030A>G (n.1409-6030A>G) c.1746A>G (p.Arg582=) n.1748A>G c.*1698A>G (n.*1698A>G) c.1638A>G (p.Arg546=) c.1692A>G (p.Arg564=) c.97-6030A>G c.381A>G (p.Arg127=) n.179A>G c.*1014A>G (n.*1014A>G) c.179A>G c.1722A>G (p.Arg574=) c.1617A>G (p.Arg539=) c.1608A>G (p.Arg536=) c.1569A>G (p.Arg523=) c.1515A>G (p.Arg505=) c.1419A>G (p.Arg473=) c.1389A>G (p.Arg463=) c.1314A>G (p.Arg438=) c.1212A>G (p.Arg404=) c.843A>G (p.Arg281=) | ClinVar |
| 5 | g.112828921A>T | CA445757408 | APC | c.1409-6030A>T (n.1409-6030A>T) c.1746A>T (p.Arg582=) n.1748A>T c.*1698A>T (n.*1698A>T) c.1638A>T (p.Arg546=) c.1692A>T (p.Arg564=) c.97-6030A>T c.381A>T (p.Arg127=) n.179A>T c.*1014A>T (n.*1014A>T) c.179A>T c.1722A>T (p.Arg574=) c.1617A>T (p.Arg539=) c.1608A>T (p.Arg536=) c.1569A>T (p.Arg523=) c.1515A>T (p.Arg505=) c.1419A>T (p.Arg473=) c.1389A>T (p.Arg463=) c.1314A>T (p.Arg438=) c.1212A>T (p.Arg404=) c.843A>T (p.Arg281=) | dbSNP |
| 5 | g.112828922G>A | CA16025005 | APC | c.1409-6029G>A (n.1409-6029G>A) c.1747G>A (p.Glu583Lys) n.1749G>A c.*1699G>A (n.*1699G>A) c.1639G>A (p.Glu547Lys) c.1693G>A (p.Glu565Lys) c.97-6029G>A c.382G>A (p.Glu128Lys) n.180G>A c.*1015G>A (n.*1015G>A) c.180G>A c.1723G>A (p.Glu575Lys) c.1618G>A (p.Glu540Lys) c.1609G>A (p.Glu537Lys) c.1570G>A (p.Glu524Lys) c.1516G>A (p.Glu506Lys) c.1420G>A (p.Glu474Lys) c.1390G>A (p.Glu464Lys) c.1315G>A (p.Glu439Lys) c.1213G>A (p.Glu405Lys) c.844G>A (p.Glu282Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828922G>C | CA16025006 | APC | c.1409-6029G>C (n.1409-6029G>C) c.1747G>C (p.Glu583Gln) n.1749G>C c.*1699G>C (n.*1699G>C) c.1639G>C (p.Glu547Gln) c.1693G>C (p.Glu565Gln) c.97-6029G>C c.382G>C (p.Glu128Gln) n.180G>C c.*1015G>C (n.*1015G>C) c.180G>C c.1723G>C (p.Glu575Gln) c.1618G>C (p.Glu540Gln) c.1609G>C (p.Glu537Gln) c.1570G>C (p.Glu524Gln) c.1516G>C (p.Glu506Gln) c.1420G>C (p.Glu474Gln) c.1390G>C (p.Glu464Gln) c.1315G>C (p.Glu439Gln) c.1213G>C (p.Glu405Gln) c.844G>C (p.Glu282Gln) | dbSNP |
| 5 | g.112828922G= | CA1573508857 | APC | c.1409-6029G= (n.1409-6029G=) c.1747G= (p.Glu583=) n.1749G= c.*1699G= (n.*1699G=) c.1639G= (p.Glu547=) c.1693G= (p.Glu565=) c.97-6029G= c.382G= (p.Glu128=) n.180G= c.*1015G= (n.*1015G=) c.180G= c.1723G= (p.Glu575=) c.1618G= (p.Glu540=) c.1609G= (p.Glu537=) c.1570G= (p.Glu524=) c.1516G= (p.Glu506=) c.1420G= (p.Glu474=) c.1390G= (p.Glu464=) c.1315G= (p.Glu439=) c.1213G= (p.Glu405=) c.844G= (p.Glu282=) | |
| 5 | g.112828922G>T | CA16025007 | APC | c.1409-6029G>T (n.1409-6029G>T) c.1747G>T (p.Glu583Ter) n.1749G>T c.*1699G>T (n.*1699G>T) c.1639G>T (p.Glu547Ter) c.1693G>T (p.Glu565Ter) c.97-6029G>T c.382G>T (p.Glu128Ter) n.180G>T c.*1015G>T (n.*1015G>T) c.180G>T c.1723G>T (p.Glu575Ter) c.1618G>T (p.Glu540Ter) c.1609G>T (p.Glu537Ter) c.1570G>T (p.Glu524Ter) c.1516G>T (p.Glu506Ter) c.1420G>T (p.Glu474Ter) c.1390G>T (p.Glu464Ter) c.1315G>T (p.Glu439Ter) c.1213G>T (p.Glu405Ter) c.844G>T (p.Glu282Ter) | ClinVar dbSNP |
| 5 | g.112828922_112828923delinsGA | CA1573508854 | APC | c.1409-6029_1409-6028delinsGA (n.1409-6029_1409-6028delinsGA) c.1747_1748delinsGA (p.Glu583=) n.1749_1750delinsGA c.*1699_*1700delinsGA (n.*1699_*1700delinsGA) c.1639_1640delinsGA (p.Glu547=) c.1693_1694delinsGA (p.Glu565=) c.97-6029_97-6028delinsGA c.382_383delinsGA (p.Glu128=) n.180_181delinsGA c.*1015_*1016delinsGA (n.*1015_*1016delinsGA) c.180_181delinsGA c.1723_1724delinsGA (p.Glu575=) c.1618_1619delinsGA (p.Glu540=) c.1609_1610delinsGA (p.Glu537=) c.1570_1571delinsGA (p.Glu524=) c.1516_1517delinsGA (p.Glu506=) c.1420_1421delinsGA (p.Glu474=) c.1390_1391delinsGA (p.Glu464=) c.1315_1316delinsGA (p.Glu439=) c.1213_1214delinsGA (p.Glu405=) c.844_845delinsGA (p.Glu282=) | |
| 5 | g.112828923A= | CA1573508863 | APC | c.1409-6028A= (n.1409-6028A=) c.1748A= (p.Glu583=) n.1750A= c.*1700A= (n.*1700A=) c.1640A= (p.Glu547=) c.1694A= (p.Glu565=) c.97-6028A= c.383A= (p.Glu128=) n.181A= c.*1016A= (n.*1016A=) c.181A= c.1724A= (p.Glu575=) c.1619A= (p.Glu540=) c.1610A= (p.Glu537=) c.1571A= (p.Glu524=) c.1517A= (p.Glu506=) c.1421A= (p.Glu474=) c.1391A= (p.Glu464=) c.1316A= (p.Glu439=) c.1214A= (p.Glu405=) c.845A= (p.Glu282=) | |
| 5 | g.112828923A>C | CA16025008 | APC | c.1409-6028A>C (n.1409-6028A>C) c.1748A>C (p.Glu583Ala) n.1750A>C c.*1700A>C (n.*1700A>C) c.1640A>C (p.Glu547Ala) c.1694A>C (p.Glu565Ala) c.97-6028A>C c.383A>C (p.Glu128Ala) n.181A>C c.*1016A>C (n.*1016A>C) c.181A>C c.1724A>C (p.Glu575Ala) c.1619A>C (p.Glu540Ala) c.1610A>C (p.Glu537Ala) c.1571A>C (p.Glu524Ala) c.1517A>C (p.Glu506Ala) c.1421A>C (p.Glu474Ala) c.1391A>C (p.Glu464Ala) c.1316A>C (p.Glu439Ala) c.1214A>C (p.Glu405Ala) c.845A>C (p.Glu282Ala) | |
| 5 | g.112828923A>G | CA16025009 | APC | c.1409-6028A>G (n.1409-6028A>G) c.1748A>G (p.Glu583Gly) n.1750A>G c.*1700A>G (n.*1700A>G) c.1640A>G (p.Glu547Gly) c.1694A>G (p.Glu565Gly) c.97-6028A>G c.383A>G (p.Glu128Gly) n.181A>G c.*1016A>G (n.*1016A>G) c.181A>G c.1724A>G (p.Glu575Gly) c.1619A>G (p.Glu540Gly) c.1610A>G (p.Glu537Gly) c.1571A>G (p.Glu524Gly) c.1517A>G (p.Glu506Gly) c.1421A>G (p.Glu474Gly) c.1391A>G (p.Glu464Gly) c.1316A>G (p.Glu439Gly) c.1214A>G (p.Glu405Gly) c.845A>G (p.Glu282Gly) | ClinVar dbSNP |
| 5 | g.112828923A>T | CA16025010 | APC | c.1409-6028A>T (n.1409-6028A>T) c.1748A>T (p.Glu583Val) n.1750A>T c.*1700A>T (n.*1700A>T) c.1640A>T (p.Glu547Val) c.1694A>T (p.Glu565Val) c.97-6028A>T c.383A>T (p.Glu128Val) n.181A>T c.*1016A>T (n.*1016A>T) c.181A>T c.1724A>T (p.Glu575Val) c.1619A>T (p.Glu540Val) c.1610A>T (p.Glu537Val) c.1571A>T (p.Glu524Val) c.1517A>T (p.Glu506Val) c.1421A>T (p.Glu474Val) c.1391A>T (p.Glu464Val) c.1316A>T (p.Glu439Val) c.1214A>T (p.Glu405Val) c.845A>T (p.Glu282Val) | |
| 5 | g.112828924del | CA005465 | APC | c.1409-6027del (n.1409-6027del) c.1749del (p.Val584LeufsTer4) n.1751del c.*1701del (n.*1701del) c.1641del (p.Val548LeufsTer4) c.1695del (p.Val566LeufsTer4) c.97-6027del c.384del (p.Val129LeufsTer4) n.182del c.*1017del (n.*1017del) c.182del c.1725del (p.Val576LeufsTer4) c.1620del (p.Val541LeufsTer4) c.1611del (p.Val538LeufsTer4) c.1572del (p.Val525LeufsTer4) c.1518del (p.Val507LeufsTer4) c.1422del (p.Val475LeufsTer4) c.1392del (p.Val465LeufsTer4) c.1317del (p.Val440LeufsTer4) c.1215del (p.Val406LeufsTer4) c.846del (p.Val283LeufsTer4) | ClinVar dbSNP |
| 5 | g.112828924A= | CA1573508870 | APC | c.1409-6027A= (n.1409-6027A=) c.1749A= (p.Glu583=) n.1751A= c.*1701A= (n.*1701A=) c.1641A= (p.Glu547=) c.1695A= (p.Glu565=) c.97-6027A= c.384A= (p.Glu128=) n.182A= c.*1017A= (n.*1017A=) c.182A= c.1725A= (p.Glu575=) c.1620A= (p.Glu540=) c.1611A= (p.Glu537=) c.1572A= (p.Glu524=) c.1518A= (p.Glu506=) c.1422A= (p.Glu474=) c.1392A= (p.Glu464=) c.1317A= (p.Glu439=) c.1215A= (p.Glu405=) c.846A= (p.Glu282=) | |
| 5 | g.112828924A>C | CA16025011 | APC | c.1409-6027A>C (n.1409-6027A>C) c.1749A>C (p.Glu583Asp) n.1751A>C c.*1701A>C (n.*1701A>C) c.1641A>C (p.Glu547Asp) c.1695A>C (p.Glu565Asp) c.97-6027A>C c.384A>C (p.Glu128Asp) n.182A>C c.*1017A>C (n.*1017A>C) c.182A>C c.1725A>C (p.Glu575Asp) c.1620A>C (p.Glu540Asp) c.1611A>C (p.Glu537Asp) c.1572A>C (p.Glu524Asp) c.1518A>C (p.Glu506Asp) c.1422A>C (p.Glu474Asp) c.1392A>C (p.Glu464Asp) c.1317A>C (p.Glu439Asp) c.1215A>C (p.Glu405Asp) c.846A>C (p.Glu282Asp) | ClinVar |
| 5 | g.112828924A>G | CA005459 | APC | c.1409-6027A>G (n.1409-6027A>G) c.1749A>G (p.Glu583=) n.1751A>G c.*1701A>G (n.*1701A>G) c.1641A>G (p.Glu547=) c.1695A>G (p.Glu565=) c.97-6027A>G c.384A>G (p.Glu128=) n.182A>G c.*1017A>G (n.*1017A>G) c.182A>G c.1725A>G (p.Glu575=) c.1620A>G (p.Glu540=) c.1611A>G (p.Glu537=) c.1572A>G (p.Glu524=) c.1518A>G (p.Glu506=) c.1422A>G (p.Glu474=) c.1392A>G (p.Glu464=) c.1317A>G (p.Glu439=) c.1215A>G (p.Glu405=) c.846A>G (p.Glu282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112828924A>T | CA16025012 | APC | c.1409-6027A>T (n.1409-6027A>T) c.1749A>T (p.Glu583Asp) n.1751A>T c.*1701A>T (n.*1701A>T) c.1641A>T (p.Glu547Asp) c.1695A>T (p.Glu565Asp) c.97-6027A>T c.384A>T (p.Glu128Asp) n.182A>T c.*1017A>T (n.*1017A>T) c.182A>T c.1725A>T (p.Glu575Asp) c.1620A>T (p.Glu540Asp) c.1611A>T (p.Glu537Asp) c.1572A>T (p.Glu524Asp) c.1518A>T (p.Glu506Asp) c.1422A>T (p.Glu474Asp) c.1392A>T (p.Glu464Asp) c.1317A>T (p.Glu439Asp) c.1215A>T (p.Glu405Asp) c.846A>T (p.Glu282Asp) | |
| 5 | g.112828925G>A | CA16025013 | APC | c.1409-6026G>A (n.1409-6026G>A) c.1750G>A (p.Val584Ile) n.1752G>A c.*1702G>A (n.*1702G>A) c.1642G>A (p.Val548Ile) c.1696G>A (p.Val566Ile) c.97-6026G>A c.385G>A (p.Val129Ile) n.183G>A c.*1018G>A (n.*1018G>A) c.183G>A c.1726G>A (p.Val576Ile) c.1621G>A (p.Val541Ile) c.1612G>A (p.Val538Ile) c.1573G>A (p.Val525Ile) c.1519G>A (p.Val507Ile) c.1423G>A (p.Val475Ile) c.1393G>A (p.Val465Ile) c.1318G>A (p.Val440Ile) c.1216G>A (p.Val406Ile) c.847G>A (p.Val283Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828925G>C | CA16025014 | APC | c.1409-6026G>C (n.1409-6026G>C) c.1750G>C (p.Val584Leu) n.1752G>C c.*1702G>C (n.*1702G>C) c.1642G>C (p.Val548Leu) c.1696G>C (p.Val566Leu) c.97-6026G>C c.385G>C (p.Val129Leu) n.183G>C c.*1018G>C (n.*1018G>C) c.183G>C c.1726G>C (p.Val576Leu) c.1621G>C (p.Val541Leu) c.1612G>C (p.Val538Leu) c.1573G>C (p.Val525Leu) c.1519G>C (p.Val507Leu) c.1423G>C (p.Val475Leu) c.1393G>C (p.Val465Leu) c.1318G>C (p.Val440Leu) c.1216G>C (p.Val406Leu) c.847G>C (p.Val283Leu) | dbSNP |
| 5 | g.112828925G= | CA1573508880 | APC | c.1409-6026G= (n.1409-6026G=) c.1750G= (p.Val584=) n.1752G= c.*1702G= (n.*1702G=) c.1642G= (p.Val548=) c.1696G= (p.Val566=) c.97-6026G= c.385G= (p.Val129=) n.183G= c.*1018G= (n.*1018G=) c.183G= c.1726G= (p.Val576=) c.1621G= (p.Val541=) c.1612G= (p.Val538=) c.1573G= (p.Val525=) c.1519G= (p.Val507=) c.1423G= (p.Val475=) c.1393G= (p.Val465=) c.1318G= (p.Val440=) c.1216G= (p.Val406=) c.847G= (p.Val283=) | |
| 5 | g.112828925G>T | CA16025015 | APC | c.1409-6026G>T (n.1409-6026G>T) c.1750G>T (p.Val584Phe) n.1752G>T c.*1702G>T (n.*1702G>T) c.1642G>T (p.Val548Phe) c.1696G>T (p.Val566Phe) c.97-6026G>T c.385G>T (p.Val129Phe) n.183G>T c.*1018G>T (n.*1018G>T) c.183G>T c.1726G>T (p.Val576Phe) c.1621G>T (p.Val541Phe) c.1612G>T (p.Val538Phe) c.1573G>T (p.Val525Phe) c.1519G>T (p.Val507Phe) c.1423G>T (p.Val475Phe) c.1393G>T (p.Val465Phe) c.1318G>T (p.Val440Phe) c.1216G>T (p.Val406Phe) c.847G>T (p.Val283Phe) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828926T>A | CA16025016 | APC | c.1409-6025T>A (n.1409-6025T>A) c.1751T>A (p.Val584Asp) n.1753T>A c.*1703T>A (n.*1703T>A) c.1643T>A (p.Val548Asp) c.1697T>A (p.Val566Asp) c.97-6025T>A c.386T>A (p.Val129Asp) n.184T>A c.*1019T>A (n.*1019T>A) c.184T>A c.1727T>A (p.Val576Asp) c.1622T>A (p.Val541Asp) c.1613T>A (p.Val538Asp) c.1574T>A (p.Val525Asp) c.1520T>A (p.Val507Asp) c.1424T>A (p.Val475Asp) c.1394T>A (p.Val465Asp) c.1319T>A (p.Val440Asp) c.1217T>A (p.Val406Asp) c.848T>A (p.Val283Asp) | ClinVar dbSNP |
| 5 | g.112828926T>C | CA16025017 | APC | c.1409-6025T>C (n.1409-6025T>C) c.1751T>C (p.Val584Ala) n.1753T>C c.*1703T>C (n.*1703T>C) c.1643T>C (p.Val548Ala) c.1697T>C (p.Val566Ala) c.97-6025T>C c.386T>C (p.Val129Ala) n.184T>C c.*1019T>C (n.*1019T>C) c.184T>C c.1727T>C (p.Val576Ala) c.1622T>C (p.Val541Ala) c.1613T>C (p.Val538Ala) c.1574T>C (p.Val525Ala) c.1520T>C (p.Val507Ala) c.1424T>C (p.Val475Ala) c.1394T>C (p.Val465Ala) c.1319T>C (p.Val440Ala) c.1217T>C (p.Val406Ala) c.848T>C (p.Val283Ala) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828926T>G | CA16025018 | APC | c.1409-6025T>G (n.1409-6025T>G) c.1751T>G (p.Val584Gly) n.1753T>G c.*1703T>G (n.*1703T>G) c.1643T>G (p.Val548Gly) c.1697T>G (p.Val566Gly) c.97-6025T>G c.386T>G (p.Val129Gly) n.184T>G c.*1019T>G (n.*1019T>G) c.184T>G c.1727T>G (p.Val576Gly) c.1622T>G (p.Val541Gly) c.1613T>G (p.Val538Gly) c.1574T>G (p.Val525Gly) c.1520T>G (p.Val507Gly) c.1424T>G (p.Val475Gly) c.1394T>G (p.Val465Gly) c.1319T>G (p.Val440Gly) c.1217T>G (p.Val406Gly) c.848T>G (p.Val283Gly) | dbSNP |
| 5 | g.112828926T= | CA1573508896 | APC | c.1409-6025T= (n.1409-6025T=) c.1751T= (p.Val584=) n.1753T= c.*1703T= (n.*1703T=) c.1643T= (p.Val548=) c.1697T= (p.Val566=) c.97-6025T= c.386T= (p.Val129=) n.184T= c.*1019T= (n.*1019T=) c.184T= c.1727T= (p.Val576=) c.1622T= (p.Val541=) c.1613T= (p.Val538=) c.1574T= (p.Val525=) c.1520T= (p.Val507=) c.1424T= (p.Val475=) c.1394T= (p.Val465=) c.1319T= (p.Val440=) c.1217T= (p.Val406=) c.848T= (p.Val283=) | |
| 5 | g.112828927T>A | CA445757409 | APC | c.1409-6024T>A (n.1409-6024T>A) c.1752T>A (p.Val584=) n.1754T>A c.*1704T>A (n.*1704T>A) c.1644T>A (p.Val548=) c.1698T>A (p.Val566=) c.97-6024T>A c.387T>A (p.Val129=) n.185T>A c.*1020T>A (n.*1020T>A) c.185T>A c.1728T>A (p.Val576=) c.1623T>A (p.Val541=) c.1614T>A (p.Val538=) c.1575T>A (p.Val525=) c.1521T>A (p.Val507=) c.1425T>A (p.Val475=) c.1395T>A (p.Val465=) c.1320T>A (p.Val440=) c.1218T>A (p.Val406=) c.849T>A (p.Val283=) | |
| 5 | g.112828927T>C | CA445757410 | APC | c.1409-6024T>C (n.1409-6024T>C) c.1752T>C (p.Val584=) n.1754T>C c.*1704T>C (n.*1704T>C) c.1644T>C (p.Val548=) c.1698T>C (p.Val566=) c.97-6024T>C c.387T>C (p.Val129=) n.185T>C c.*1020T>C (n.*1020T>C) c.185T>C c.1728T>C (p.Val576=) c.1623T>C (p.Val541=) c.1614T>C (p.Val538=) c.1575T>C (p.Val525=) c.1521T>C (p.Val507=) c.1425T>C (p.Val475=) c.1395T>C (p.Val465=) c.1320T>C (p.Val440=) c.1218T>C (p.Val406=) c.849T>C (p.Val283=) | dbSNP |
| 5 | g.112828927T>G | CA445757411 | APC | c.1409-6024T>G (n.1409-6024T>G) c.1752T>G (p.Val584=) n.1754T>G c.*1704T>G (n.*1704T>G) c.1644T>G (p.Val548=) c.1698T>G (p.Val566=) c.97-6024T>G c.387T>G (p.Val129=) n.185T>G c.*1020T>G (n.*1020T>G) c.185T>G c.1728T>G (p.Val576=) c.1623T>G (p.Val541=) c.1614T>G (p.Val538=) c.1575T>G (p.Val525=) c.1521T>G (p.Val507=) c.1425T>G (p.Val475=) c.1395T>G (p.Val465=) c.1320T>G (p.Val440=) c.1218T>G (p.Val406=) c.849T>G (p.Val283=) | |
| 5 | g.112828928G>A | CA16025019 | APC | c.1409-6023G>A (n.1409-6023G>A) c.1753G>A (p.Gly585Arg) n.1755G>A c.*1705G>A (n.*1705G>A) c.1645G>A (p.Gly549Arg) c.1699G>A (p.Gly567Arg) c.97-6023G>A c.388G>A (p.Gly130Arg) n.186G>A c.*1021G>A (n.*1021G>A) c.186G>A c.1729G>A (p.Gly577Arg) c.1624G>A (p.Gly542Arg) c.1615G>A (p.Gly539Arg) c.1576G>A (p.Gly526Arg) c.1522G>A (p.Gly508Arg) c.1426G>A (p.Gly476Arg) c.1396G>A (p.Gly466Arg) c.1321G>A (p.Gly441Arg) c.1219G>A (p.Gly407Arg) c.850G>A (p.Gly284Arg) | dbSNP |
| 5 | g.112828928G>C | CA16025020 | APC | c.1409-6023G>C (n.1409-6023G>C) c.1753G>C (p.Gly585Arg) n.1755G>C c.*1705G>C (n.*1705G>C) c.1645G>C (p.Gly549Arg) c.1699G>C (p.Gly567Arg) c.97-6023G>C c.388G>C (p.Gly130Arg) n.186G>C c.*1021G>C (n.*1021G>C) c.186G>C c.1729G>C (p.Gly577Arg) c.1624G>C (p.Gly542Arg) c.1615G>C (p.Gly539Arg) c.1576G>C (p.Gly526Arg) c.1522G>C (p.Gly508Arg) c.1426G>C (p.Gly476Arg) c.1396G>C (p.Gly466Arg) c.1321G>C (p.Gly441Arg) c.1219G>C (p.Gly407Arg) c.850G>C (p.Gly284Arg) | ClinVar dbSNP |
| 5 | g.112828928G= | CA1573508907 | APC | c.1409-6023G= (n.1409-6023G=) c.1753G= (p.Gly585=) n.1755G= c.*1705G= (n.*1705G=) c.1645G= (p.Gly549=) c.1699G= (p.Gly567=) c.97-6023G= c.388G= (p.Gly130=) n.186G= c.*1021G= (n.*1021G=) c.186G= c.1729G= (p.Gly577=) c.1624G= (p.Gly542=) c.1615G= (p.Gly539=) c.1576G= (p.Gly526=) c.1522G= (p.Gly508=) c.1426G= (p.Gly476=) c.1396G= (p.Gly466=) c.1321G= (p.Gly441=) c.1219G= (p.Gly407=) c.850G= (p.Gly284=) | |
| 5 | g.112828928G>T | CA16025021 | APC | c.1409-6023G>T (n.1409-6023G>T) c.1753G>T (p.Gly585Ter) n.1755G>T c.*1705G>T (n.*1705G>T) c.1645G>T (p.Gly549Ter) c.1699G>T (p.Gly567Ter) c.97-6023G>T c.388G>T (p.Gly130Ter) n.186G>T c.*1021G>T (n.*1021G>T) c.186G>T c.1729G>T (p.Gly577Ter) c.1624G>T (p.Gly542Ter) c.1615G>T (p.Gly539Ter) c.1576G>T (p.Gly526Ter) c.1522G>T (p.Gly508Ter) c.1426G>T (p.Gly476Ter) c.1396G>T (p.Gly466Ter) c.1321G>T (p.Gly441Ter) c.1219G>T (p.Gly407Ter) c.850G>T (p.Gly284Ter) | dbSNP |
| 5 | g.112828929del | CA2740090877 | APC | c.1409-6022del (n.1409-6022del) c.1754del (p.Gly585GlufsTer3) n.1756del c.*1706del (n.*1706del) c.1646del (p.Gly549GlufsTer3) c.1700del (p.Gly567GlufsTer3) c.97-6022del c.389del (p.Gly130GlufsTer3) n.187del c.*1022del (n.*1022del) c.187del c.1730del (p.Gly577GlufsTer3) c.1625del (p.Gly542GlufsTer3) c.1616del (p.Gly539GlufsTer3) c.1577del (p.Gly526GlufsTer3) c.1523del (p.Gly508GlufsTer3) c.1427del (p.Gly476GlufsTer3) c.1397del (p.Gly466GlufsTer3) c.1322del (p.Gly441GlufsTer3) c.1220del (p.Gly407GlufsTer3) c.851del (p.Gly284GlufsTer3) | ClinVar |
| 5 | g.112828929G>A | CA16025022 | APC | c.1409-6022G>A (n.1409-6022G>A) c.1754G>A (p.Gly585Glu) n.1756G>A c.*1706G>A (n.*1706G>A) c.1646G>A (p.Gly549Glu) c.1700G>A (p.Gly567Glu) c.97-6022G>A c.389G>A (p.Gly130Glu) n.187G>A c.*1022G>A (n.*1022G>A) c.187G>A c.1730G>A (p.Gly577Glu) c.1625G>A (p.Gly542Glu) c.1616G>A (p.Gly539Glu) c.1577G>A (p.Gly526Glu) c.1523G>A (p.Gly508Glu) c.1427G>A (p.Gly476Glu) c.1397G>A (p.Gly466Glu) c.1322G>A (p.Gly441Glu) c.1220G>A (p.Gly407Glu) c.851G>A (p.Gly284Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112828929G>C | CA16025023 | APC | c.1409-6022G>C (n.1409-6022G>C) c.1754G>C (p.Gly585Ala) n.1756G>C c.*1706G>C (n.*1706G>C) c.1646G>C (p.Gly549Ala) c.1700G>C (p.Gly567Ala) c.97-6022G>C c.389G>C (p.Gly130Ala) n.187G>C c.*1022G>C (n.*1022G>C) c.187G>C c.1730G>C (p.Gly577Ala) c.1625G>C (p.Gly542Ala) c.1616G>C (p.Gly539Ala) c.1577G>C (p.Gly526Ala) c.1523G>C (p.Gly508Ala) c.1427G>C (p.Gly476Ala) c.1397G>C (p.Gly466Ala) c.1322G>C (p.Gly441Ala) c.1220G>C (p.Gly407Ala) c.851G>C (p.Gly284Ala) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112828929G= | CA1573508912 | APC | c.1409-6022G= (n.1409-6022G=) c.1754G= (p.Gly585=) n.1756G= c.*1706G= (n.*1706G=) c.1646G= (p.Gly549=) c.1700G= (p.Gly567=) c.97-6022G= c.389G= (p.Gly130=) n.187G= c.*1022G= (n.*1022G=) c.187G= c.1730G= (p.Gly577=) c.1625G= (p.Gly542=) c.1616G= (p.Gly539=) c.1577G= (p.Gly526=) c.1523G= (p.Gly508=) c.1427G= (p.Gly476=) c.1397G= (p.Gly466=) c.1322G= (p.Gly441=) c.1220G= (p.Gly407=) c.851G= (p.Gly284=) | |
| 5 | g.112828929G>T | CA16025024 | APC | c.1409-6022G>T (n.1409-6022G>T) c.1754G>T (p.Gly585Val) n.1756G>T c.*1706G>T (n.*1706G>T) c.1646G>T (p.Gly549Val) c.1700G>T (p.Gly567Val) c.97-6022G>T c.389G>T (p.Gly130Val) n.187G>T c.*1022G>T (n.*1022G>T) c.187G>T c.1730G>T (p.Gly577Val) c.1625G>T (p.Gly542Val) c.1616G>T (p.Gly539Val) c.1577G>T (p.Gly526Val) c.1523G>T (p.Gly508Val) c.1427G>T (p.Gly476Val) c.1397G>T (p.Gly466Val) c.1322G>T (p.Gly441Val) c.1220G>T (p.Gly407Val) c.851G>T (p.Gly284Val) | dbSNP |
| 5 | g.112828930_112828934del | CA658760521 | APC | c.1409-6021_1409-6017del (n.1409-6021_1409-6017del) c.1755_1759del (p.Ser586GlufsTer11) n.1757_1761del c.*1707_*1711del (n.*1707_*1711del) c.1647_1651del (p.Ser550GlufsTer11) c.1701_1705del (p.Ser568GlufsTer11) c.97-6021_97-6017del c.390_394del (p.Ser131GlufsTer11) n.188_192del c.*1023_*1027del (n.*1023_*1027del) c.188_192del c.1731_1735del (p.Ser578GlufsTer11) c.1626_1630del (p.Ser543GlufsTer11) c.1617_1621del (p.Ser540GlufsTer11) c.1578_1582del (p.Ser527GlufsTer11) c.1524_1528del (p.Ser509GlufsTer11) c.1428_1432del (p.Ser477GlufsTer11) c.1398_1402del (p.Ser467GlufsTer11) c.1323_1327del (p.Ser442GlufsTer11) c.1221_1225del (p.Ser408GlufsTer11) c.852_856del (p.Ser285GlufsTer11) |