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.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) | ClinVar |
| 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.112828889C>A | CA445757389 | APC | c.1409-6062C>A (n.1409-6062C>A) c.1714C>A (p.Arg572=) n.1716C>A c.*1666C>A (n.*1666C>A) c.1606C>A (p.Arg536=) c.1660C>A (p.Arg554=) c.97-6062C>A c.349C>A (p.Arg117=) n.147C>A c.*982C>A (n.*982C>A) c.147C>A c.1690C>A (p.Arg564=) c.1585C>A (p.Arg529=) c.1576C>A (p.Arg526=) c.1537C>A (p.Arg513=) c.1483C>A (p.Arg495=) c.1387C>A (p.Arg463=) c.1357C>A (p.Arg453=) c.1282C>A (p.Arg428=) c.1180C>A (p.Arg394=) c.811C>A (p.Arg271=) | |
| 5 | g.112828889C= | CA1573508705 | APC | c.1409-6062C= (n.1409-6062C=) c.1714C= (p.Arg572=) n.1716C= c.*1666C= (n.*1666C=) c.1606C= (p.Arg536=) c.1660C= (p.Arg554=) c.97-6062C= c.349C= (p.Arg117=) n.147C= c.*982C= (n.*982C=) c.147C= c.1690C= (p.Arg564=) c.1585C= (p.Arg529=) c.1576C= (p.Arg526=) c.1537C= (p.Arg513=) c.1483C= (p.Arg495=) c.1387C= (p.Arg463=) c.1357C= (p.Arg453=) c.1282C= (p.Arg428=) c.1180C= (p.Arg394=) c.811C= (p.Arg271=) | |
| 5 | g.112828889C>G | CA16024936 | APC | c.1409-6062C>G (n.1409-6062C>G) c.1714C>G (p.Arg572Gly) n.1716C>G c.*1666C>G (n.*1666C>G) c.1606C>G (p.Arg536Gly) c.1660C>G (p.Arg554Gly) c.97-6062C>G c.349C>G (p.Arg117Gly) n.147C>G c.*982C>G (n.*982C>G) c.147C>G c.1690C>G (p.Arg564Gly) c.1585C>G (p.Arg529Gly) c.1576C>G (p.Arg526Gly) c.1537C>G (p.Arg513Gly) c.1483C>G (p.Arg495Gly) c.1387C>G (p.Arg463Gly) c.1357C>G (p.Arg453Gly) c.1282C>G (p.Arg428Gly) c.1180C>G (p.Arg394Gly) c.811C>G (p.Arg271Gly) | dbSNP |
| 5 | g.112828889C>T | CA005424 | APC | c.1409-6062C>T (n.1409-6062C>T) c.1714C>T (p.Arg572Ter) n.1716C>T c.*1666C>T (n.*1666C>T) c.1606C>T (p.Arg536Ter) c.1660C>T (p.Arg554Ter) c.97-6062C>T c.349C>T (p.Arg117Ter) n.147C>T c.*982C>T (n.*982C>T) c.147C>T c.1690C>T (p.Arg564Ter) c.1585C>T (p.Arg529Ter) c.1576C>T (p.Arg526Ter) c.1537C>T (p.Arg513Ter) c.1483C>T (p.Arg495Ter) c.1387C>T (p.Arg463Ter) c.1357C>T (p.Arg453Ter) c.1282C>T (p.Arg428Ter) c.1180C>T (p.Arg394Ter) c.811C>T (p.Arg271Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112828890G>A | CA16024937 | APC | c.1409-6061G>A (n.1409-6061G>A) c.1715G>A (p.Arg572Gln) n.1717G>A c.*1667G>A (n.*1667G>A) c.1607G>A (p.Arg536Gln) c.1661G>A (p.Arg554Gln) c.97-6061G>A c.350G>A (p.Arg117Gln) n.148G>A c.*983G>A (n.*983G>A) c.148G>A c.1691G>A (p.Arg564Gln) c.1586G>A (p.Arg529Gln) c.1577G>A (p.Arg526Gln) c.1538G>A (p.Arg513Gln) c.1484G>A (p.Arg495Gln) c.1388G>A (p.Arg463Gln) c.1358G>A (p.Arg453Gln) c.1283G>A (p.Arg428Gln) c.1181G>A (p.Arg394Gln) c.812G>A (p.Arg271Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112828890G>C | CA16024938 | APC | c.1409-6061G>C (n.1409-6061G>C) c.1715G>C (p.Arg572Pro) n.1717G>C c.*1667G>C (n.*1667G>C) c.1607G>C (p.Arg536Pro) c.1661G>C (p.Arg554Pro) c.97-6061G>C c.350G>C (p.Arg117Pro) n.148G>C c.*983G>C (n.*983G>C) c.148G>C c.1691G>C (p.Arg564Pro) c.1586G>C (p.Arg529Pro) c.1577G>C (p.Arg526Pro) c.1538G>C (p.Arg513Pro) c.1484G>C (p.Arg495Pro) c.1388G>C (p.Arg463Pro) c.1358G>C (p.Arg453Pro) c.1283G>C (p.Arg428Pro) c.1181G>C (p.Arg394Pro) c.812G>C (p.Arg271Pro) | dbSNP |
| 5 | g.112828890G= | CA1573508711 | APC | c.1409-6061G= (n.1409-6061G=) c.1715G= (p.Arg572=) n.1717G= c.*1667G= (n.*1667G=) c.1607G= (p.Arg536=) c.1661G= (p.Arg554=) c.97-6061G= c.350G= (p.Arg117=) n.148G= c.*983G= (n.*983G=) c.148G= c.1691G= (p.Arg564=) c.1586G= (p.Arg529=) c.1577G= (p.Arg526=) c.1538G= (p.Arg513=) c.1484G= (p.Arg495=) c.1388G= (p.Arg463=) c.1358G= (p.Arg453=) c.1283G= (p.Arg428=) c.1181G= (p.Arg394=) c.812G= (p.Arg271=) | |
| 5 | g.112828890G>T | CA16024939 | APC | c.1409-6061G>T (n.1409-6061G>T) c.1715G>T (p.Arg572Leu) n.1717G>T c.*1667G>T (n.*1667G>T) c.1607G>T (p.Arg536Leu) c.1661G>T (p.Arg554Leu) c.97-6061G>T c.350G>T (p.Arg117Leu) n.148G>T c.*983G>T (n.*983G>T) c.148G>T c.1691G>T (p.Arg564Leu) c.1586G>T (p.Arg529Leu) c.1577G>T (p.Arg526Leu) c.1538G>T (p.Arg513Leu) c.1484G>T (p.Arg495Leu) c.1388G>T (p.Arg463Leu) c.1358G>T (p.Arg453Leu) c.1283G>T (p.Arg428Leu) c.1181G>T (p.Arg394Leu) c.812G>T (p.Arg271Leu) | ClinVar |
| 5 | g.112828891A= | CA1573508720 | APC | c.1409-6060A= (n.1409-6060A=) c.1716A= (p.Arg572=) n.1718A= c.*1668A= (n.*1668A=) c.1608A= (p.Arg536=) c.1662A= (p.Arg554=) c.97-6060A= c.351A= (p.Arg117=) n.149A= c.*984A= (n.*984A=) c.149A= c.1692A= (p.Arg564=) c.1587A= (p.Arg529=) c.1578A= (p.Arg526=) c.1539A= (p.Arg513=) c.1485A= (p.Arg495=) c.1389A= (p.Arg463=) c.1359A= (p.Arg453=) c.1284A= (p.Arg428=) c.1182A= (p.Arg394=) c.813A= (p.Arg271=) | |
| 5 | g.112828891A>C | CA16605141 | APC | c.1409-6060A>C (n.1409-6060A>C) c.1716A>C (p.Arg572=) n.1718A>C c.*1668A>C (n.*1668A>C) c.1608A>C (p.Arg536=) c.1662A>C (p.Arg554=) c.97-6060A>C c.351A>C (p.Arg117=) n.149A>C c.*984A>C (n.*984A>C) c.149A>C c.1692A>C (p.Arg564=) c.1587A>C (p.Arg529=) c.1578A>C (p.Arg526=) c.1539A>C (p.Arg513=) c.1485A>C (p.Arg495=) c.1389A>C (p.Arg463=) c.1359A>C (p.Arg453=) c.1284A>C (p.Arg428=) c.1182A>C (p.Arg394=) c.813A>C (p.Arg271=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112828891A>G | CA445757390 | APC | c.1409-6060A>G (n.1409-6060A>G) c.1716A>G (p.Arg572=) n.1718A>G c.*1668A>G (n.*1668A>G) c.1608A>G (p.Arg536=) c.1662A>G (p.Arg554=) c.97-6060A>G c.351A>G (p.Arg117=) n.149A>G c.*984A>G (n.*984A>G) c.149A>G c.1692A>G (p.Arg564=) c.1587A>G (p.Arg529=) c.1578A>G (p.Arg526=) c.1539A>G (p.Arg513=) c.1485A>G (p.Arg495=) c.1389A>G (p.Arg463=) c.1359A>G (p.Arg453=) c.1284A>G (p.Arg428=) c.1182A>G (p.Arg394=) c.813A>G (p.Arg271=) | dbSNP |
| 5 | g.112828891A>T | CA445757391 | APC | c.1409-6060A>T (n.1409-6060A>T) c.1716A>T (p.Arg572=) n.1718A>T c.*1668A>T (n.*1668A>T) c.1608A>T (p.Arg536=) c.1662A>T (p.Arg554=) c.97-6060A>T c.351A>T (p.Arg117=) n.149A>T c.*984A>T (n.*984A>T) c.149A>T c.1692A>T (p.Arg564=) c.1587A>T (p.Arg529=) c.1578A>T (p.Arg526=) c.1539A>T (p.Arg513=) c.1485A>T (p.Arg495=) c.1389A>T (p.Arg463=) c.1359A>T (p.Arg453=) c.1284A>T (p.Arg428=) c.1182A>T (p.Arg394=) c.813A>T (p.Arg271=) | |
| 5 | g.112828892G>A | CA16024940 | APC | c.1409-6059G>A (n.1409-6059G>A) c.1717G>A (p.Ala573Thr) n.1719G>A c.*1669G>A (n.*1669G>A) c.1609G>A (p.Ala537Thr) c.1663G>A (p.Ala555Thr) c.97-6059G>A c.352G>A (p.Ala118Thr) n.150G>A c.*985G>A (n.*985G>A) c.150G>A c.1693G>A (p.Ala565Thr) c.1588G>A (p.Ala530Thr) c.1579G>A (p.Ala527Thr) c.1540G>A (p.Ala514Thr) c.1486G>A (p.Ala496Thr) c.1390G>A (p.Ala464Thr) c.1360G>A (p.Ala454Thr) c.1285G>A (p.Ala429Thr) c.1183G>A (p.Ala395Thr) c.814G>A (p.Ala272Thr) | dbSNP gnomAD v4 |
| 5 | g.112828892G>C | CA16024941 | APC | c.1409-6059G>C (n.1409-6059G>C) c.1717G>C (p.Ala573Pro) n.1719G>C c.*1669G>C (n.*1669G>C) c.1609G>C (p.Ala537Pro) c.1663G>C (p.Ala555Pro) c.97-6059G>C c.352G>C (p.Ala118Pro) n.150G>C c.*985G>C (n.*985G>C) c.150G>C c.1693G>C (p.Ala565Pro) c.1588G>C (p.Ala530Pro) c.1579G>C (p.Ala527Pro) c.1540G>C (p.Ala514Pro) c.1486G>C (p.Ala496Pro) c.1390G>C (p.Ala464Pro) c.1360G>C (p.Ala454Pro) c.1285G>C (p.Ala429Pro) c.1183G>C (p.Ala395Pro) c.814G>C (p.Ala272Pro) | dbSNP |
| 5 | g.112828892G>T | CA16024942 | APC | c.1409-6059G>T (n.1409-6059G>T) c.1717G>T (p.Ala573Ser) n.1719G>T c.*1669G>T (n.*1669G>T) c.1609G>T (p.Ala537Ser) c.1663G>T (p.Ala555Ser) c.97-6059G>T c.352G>T (p.Ala118Ser) n.150G>T c.*985G>T (n.*985G>T) c.150G>T c.1693G>T (p.Ala565Ser) c.1588G>T (p.Ala530Ser) c.1579G>T (p.Ala527Ser) c.1540G>T (p.Ala514Ser) c.1486G>T (p.Ala496Ser) c.1390G>T (p.Ala464Ser) c.1360G>T (p.Ala454Ser) c.1285G>T (p.Ala429Ser) c.1183G>T (p.Ala395Ser) c.814G>T (p.Ala272Ser) | |
| 5 | g.112828893C>A | CA16024943 | APC | c.1409-6058C>A (n.1409-6058C>A) c.1718C>A (p.Ala573Glu) n.1720C>A c.*1670C>A (n.*1670C>A) c.1610C>A (p.Ala537Glu) c.1664C>A (p.Ala555Glu) c.97-6058C>A c.353C>A (p.Ala118Glu) n.151C>A c.*986C>A (n.*986C>A) c.151C>A c.1694C>A (p.Ala565Glu) c.1589C>A (p.Ala530Glu) c.1580C>A (p.Ala527Glu) c.1541C>A (p.Ala514Glu) c.1487C>A (p.Ala496Glu) c.1391C>A (p.Ala464Glu) c.1361C>A (p.Ala454Glu) c.1286C>A (p.Ala429Glu) c.1184C>A (p.Ala395Glu) c.815C>A (p.Ala272Glu) | dbSNP |
| 5 | g.112828893C>G | CA16024944 | APC | c.1409-6058C>G (n.1409-6058C>G) c.1718C>G (p.Ala573Gly) n.1720C>G c.*1670C>G (n.*1670C>G) c.1610C>G (p.Ala537Gly) c.1664C>G (p.Ala555Gly) c.97-6058C>G c.353C>G (p.Ala118Gly) n.151C>G c.*986C>G (n.*986C>G) c.151C>G c.1694C>G (p.Ala565Gly) c.1589C>G (p.Ala530Gly) c.1580C>G (p.Ala527Gly) c.1541C>G (p.Ala514Gly) c.1487C>G (p.Ala496Gly) c.1391C>G (p.Ala464Gly) c.1361C>G (p.Ala454Gly) c.1286C>G (p.Ala429Gly) c.1184C>G (p.Ala395Gly) c.815C>G (p.Ala272Gly) | ClinVar dbSNP |
| 5 | g.112828893C>T | CA16024945 | APC | c.1409-6058C>T (n.1409-6058C>T) c.1718C>T (p.Ala573Val) n.1720C>T c.*1670C>T (n.*1670C>T) c.1610C>T (p.Ala537Val) c.1664C>T (p.Ala555Val) c.97-6058C>T c.353C>T (p.Ala118Val) n.151C>T c.*986C>T (n.*986C>T) c.151C>T c.1694C>T (p.Ala565Val) c.1589C>T (p.Ala530Val) c.1580C>T (p.Ala527Val) c.1541C>T (p.Ala514Val) c.1487C>T (p.Ala496Val) c.1391C>T (p.Ala464Val) c.1361C>T (p.Ala454Val) c.1286C>T (p.Ala429Val) c.1184C>T (p.Ala395Val) c.815C>T (p.Ala272Val) | dbSNP |
| 5 | g.112828894A= | CA1573508724 | APC | c.1409-6057A= (n.1409-6057A=) c.1719A= (p.Ala573=) n.1721A= c.*1671A= (n.*1671A=) c.1611A= (p.Ala537=) c.1665A= (p.Ala555=) c.97-6057A= c.354A= (p.Ala118=) n.152A= c.*987A= (n.*987A=) c.152A= c.1695A= (p.Ala565=) c.1590A= (p.Ala530=) c.1581A= (p.Ala527=) c.1542A= (p.Ala514=) c.1488A= (p.Ala496=) c.1392A= (p.Ala464=) c.1362A= (p.Ala454=) c.1287A= (p.Ala429=) c.1185A= (p.Ala395=) c.816A= (p.Ala272=) | |
| 5 | g.112828894A>C | CA445757392 | APC | c.1409-6057A>C (n.1409-6057A>C) c.1719A>C (p.Ala573=) n.1721A>C c.*1671A>C (n.*1671A>C) c.1611A>C (p.Ala537=) c.1665A>C (p.Ala555=) c.97-6057A>C c.354A>C (p.Ala118=) n.152A>C c.*987A>C (n.*987A>C) c.152A>C c.1695A>C (p.Ala565=) c.1590A>C (p.Ala530=) c.1581A>C (p.Ala527=) c.1542A>C (p.Ala514=) c.1488A>C (p.Ala496=) c.1392A>C (p.Ala464=) c.1362A>C (p.Ala454=) c.1287A>C (p.Ala429=) c.1185A>C (p.Ala395=) c.816A>C (p.Ala272=) | |
| 5 | g.112828894A>G | CA445757393 | APC | c.1409-6057A>G (n.1409-6057A>G) c.1719A>G (p.Ala573=) n.1721A>G c.*1671A>G (n.*1671A>G) c.1611A>G (p.Ala537=) c.1665A>G (p.Ala555=) c.97-6057A>G c.354A>G (p.Ala118=) n.152A>G c.*987A>G (n.*987A>G) c.152A>G c.1695A>G (p.Ala565=) c.1590A>G (p.Ala530=) c.1581A>G (p.Ala527=) c.1542A>G (p.Ala514=) c.1488A>G (p.Ala496=) c.1392A>G (p.Ala464=) c.1362A>G (p.Ala454=) c.1287A>G (p.Ala429=) c.1185A>G (p.Ala395=) c.816A>G (p.Ala272=) | ClinVar dbSNP |
| 5 | g.112828894A>T | CA445757394 | APC | c.1409-6057A>T (n.1409-6057A>T) c.1719A>T (p.Ala573=) n.1721A>T c.*1671A>T (n.*1671A>T) c.1611A>T (p.Ala537=) c.1665A>T (p.Ala555=) c.97-6057A>T c.354A>T (p.Ala118=) n.152A>T c.*987A>T (n.*987A>T) c.152A>T c.1695A>T (p.Ala565=) c.1590A>T (p.Ala530=) c.1581A>T (p.Ala527=) c.1542A>T (p.Ala514=) c.1488A>T (p.Ala496=) c.1392A>T (p.Ala464=) c.1362A>T (p.Ala454=) c.1287A>T (p.Ala429=) c.1185A>T (p.Ala395=) c.816A>T (p.Ala272=) | ClinVar dbSNP |
| 5 | g.112828895G>A | CA16024946 | APC | c.1409-6056G>A (n.1409-6056G>A) c.1720G>A (p.Asp574Asn) n.1722G>A c.*1672G>A (n.*1672G>A) c.1612G>A (p.Asp538Asn) c.1666G>A (p.Asp556Asn) c.97-6056G>A c.355G>A (p.Asp119Asn) n.153G>A c.*988G>A (n.*988G>A) c.153G>A c.1696G>A (p.Asp566Asn) c.1591G>A (p.Asp531Asn) c.1582G>A (p.Asp528Asn) c.1543G>A (p.Asp515Asn) c.1489G>A (p.Asp497Asn) c.1393G>A (p.Asp465Asn) c.1363G>A (p.Asp455Asn) c.1288G>A (p.Asp430Asn) c.1186G>A (p.Asp396Asn) c.817G>A (p.Asp273Asn) | dbSNP |
| 5 | g.112828895G>C | CA16024947 | APC | c.1409-6056G>C (n.1409-6056G>C) c.1720G>C (p.Asp574His) n.1722G>C c.*1672G>C (n.*1672G>C) c.1612G>C (p.Asp538His) c.1666G>C (p.Asp556His) c.97-6056G>C c.355G>C (p.Asp119His) n.153G>C c.*988G>C (n.*988G>C) c.153G>C c.1696G>C (p.Asp566His) c.1591G>C (p.Asp531His) c.1582G>C (p.Asp528His) c.1543G>C (p.Asp515His) c.1489G>C (p.Asp497His) c.1393G>C (p.Asp465His) c.1363G>C (p.Asp455His) c.1288G>C (p.Asp430His) c.1186G>C (p.Asp396His) c.817G>C (p.Asp273His) | dbSNP |
| 5 | g.112828895G>T | CA16024948 | APC | c.1409-6056G>T (n.1409-6056G>T) c.1720G>T (p.Asp574Tyr) n.1722G>T c.*1672G>T (n.*1672G>T) c.1612G>T (p.Asp538Tyr) c.1666G>T (p.Asp556Tyr) c.97-6056G>T c.355G>T (p.Asp119Tyr) n.153G>T c.*988G>T (n.*988G>T) c.153G>T c.1696G>T (p.Asp566Tyr) c.1591G>T (p.Asp531Tyr) c.1582G>T (p.Asp528Tyr) c.1543G>T (p.Asp515Tyr) c.1489G>T (p.Asp497Tyr) c.1393G>T (p.Asp465Tyr) c.1363G>T (p.Asp455Tyr) c.1288G>T (p.Asp430Tyr) c.1186G>T (p.Asp396Tyr) c.817G>T (p.Asp273Tyr) | |
| 5 | g.112828896A= | CA1573508728 | APC | c.1409-6055A= (n.1409-6055A=) c.1721A= (p.Asp574=) n.1723A= c.*1673A= (n.*1673A=) c.1613A= (p.Asp538=) c.1667A= (p.Asp556=) c.97-6055A= c.356A= (p.Asp119=) n.154A= c.*989A= (n.*989A=) c.154A= c.1697A= (p.Asp566=) c.1592A= (p.Asp531=) c.1583A= (p.Asp528=) c.1544A= (p.Asp515=) c.1490A= (p.Asp497=) c.1394A= (p.Asp465=) c.1364A= (p.Asp455=) c.1289A= (p.Asp430=) c.1187A= (p.Asp396=) c.818A= (p.Asp273=) | |
| 5 | g.112828896A>C | CA16024949 | APC | c.1409-6055A>C (n.1409-6055A>C) c.1721A>C (p.Asp574Ala) n.1723A>C c.*1673A>C (n.*1673A>C) c.1613A>C (p.Asp538Ala) c.1667A>C (p.Asp556Ala) c.97-6055A>C c.356A>C (p.Asp119Ala) n.154A>C c.*989A>C (n.*989A>C) c.154A>C c.1697A>C (p.Asp566Ala) c.1592A>C (p.Asp531Ala) c.1583A>C (p.Asp528Ala) c.1544A>C (p.Asp515Ala) c.1490A>C (p.Asp497Ala) c.1394A>C (p.Asp465Ala) c.1364A>C (p.Asp455Ala) c.1289A>C (p.Asp430Ala) c.1187A>C (p.Asp396Ala) c.818A>C (p.Asp273Ala) | ClinVar dbSNP |
| 5 | g.112828896A>G | CA16024950 | APC | c.1409-6055A>G (n.1409-6055A>G) c.1721A>G (p.Asp574Gly) n.1723A>G c.*1673A>G (n.*1673A>G) c.1613A>G (p.Asp538Gly) c.1667A>G (p.Asp556Gly) c.97-6055A>G c.356A>G (p.Asp119Gly) n.154A>G c.*989A>G (n.*989A>G) c.154A>G c.1697A>G (p.Asp566Gly) c.1592A>G (p.Asp531Gly) c.1583A>G (p.Asp528Gly) c.1544A>G (p.Asp515Gly) c.1490A>G (p.Asp497Gly) c.1394A>G (p.Asp465Gly) c.1364A>G (p.Asp455Gly) c.1289A>G (p.Asp430Gly) c.1187A>G (p.Asp396Gly) c.818A>G (p.Asp273Gly) | dbSNP |
| 5 | g.112828896A>T | CA028939 | APC | c.1409-6055A>T (n.1409-6055A>T) c.1721A>T (p.Asp574Val) n.1723A>T c.*1673A>T (n.*1673A>T) c.1613A>T (p.Asp538Val) c.1667A>T (p.Asp556Val) c.97-6055A>T c.356A>T (p.Asp119Val) n.154A>T c.*989A>T (n.*989A>T) c.154A>T c.1697A>T (p.Asp566Val) c.1592A>T (p.Asp531Val) c.1583A>T (p.Asp528Val) c.1544A>T (p.Asp515Val) c.1490A>T (p.Asp497Val) c.1394A>T (p.Asp465Val) c.1364A>T (p.Asp455Val) c.1289A>T (p.Asp430Val) c.1187A>T (p.Asp396Val) c.818A>T (p.Asp273Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112828897T>A | CA16024951 | APC | c.1409-6054T>A (n.1409-6054T>A) c.1722T>A (p.Asp574Glu) n.1724T>A c.*1674T>A (n.*1674T>A) c.1614T>A (p.Asp538Glu) c.1668T>A (p.Asp556Glu) c.97-6054T>A c.357T>A (p.Asp119Glu) n.155T>A c.*990T>A (n.*990T>A) c.155T>A c.1698T>A (p.Asp566Glu) c.1593T>A (p.Asp531Glu) c.1584T>A (p.Asp528Glu) c.1545T>A (p.Asp515Glu) c.1491T>A (p.Asp497Glu) c.1395T>A (p.Asp465Glu) c.1365T>A (p.Asp455Glu) c.1290T>A (p.Asp430Glu) c.1188T>A (p.Asp396Glu) c.819T>A (p.Asp273Glu) | |
| 5 | g.112828897T>C | CA028961 | APC | c.1409-6054T>C (n.1409-6054T>C) c.1722T>C (p.Asp574=) n.1724T>C c.*1674T>C (n.*1674T>C) c.1614T>C (p.Asp538=) c.1668T>C (p.Asp556=) c.97-6054T>C c.357T>C (p.Asp119=) n.155T>C c.*990T>C (n.*990T>C) c.155T>C c.1698T>C (p.Asp566=) c.1593T>C (p.Asp531=) c.1584T>C (p.Asp528=) c.1545T>C (p.Asp515=) c.1491T>C (p.Asp497=) c.1395T>C (p.Asp465=) c.1365T>C (p.Asp455=) c.1290T>C (p.Asp430=) c.1188T>C (p.Asp396=) c.819T>C (p.Asp273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112828897T>G | CA16024952 | APC | c.1409-6054T>G (n.1409-6054T>G) c.1722T>G (p.Asp574Glu) n.1724T>G c.*1674T>G (n.*1674T>G) c.1614T>G (p.Asp538Glu) c.1668T>G (p.Asp556Glu) c.97-6054T>G c.357T>G (p.Asp119Glu) n.155T>G c.*990T>G (n.*990T>G) c.155T>G c.1698T>G (p.Asp566Glu) c.1593T>G (p.Asp531Glu) c.1584T>G (p.Asp528Glu) c.1545T>G (p.Asp515Glu) c.1491T>G (p.Asp497Glu) c.1395T>G (p.Asp465Glu) c.1365T>G (p.Asp455Glu) c.1290T>G (p.Asp430Glu) c.1188T>G (p.Asp396Glu) c.819T>G (p.Asp273Glu) | gnomAD v4 |
| 5 | g.112828897T= | CA1573508733 | APC | c.1409-6054T= (n.1409-6054T=) c.1722T= (p.Asp574=) n.1724T= c.*1674T= (n.*1674T=) c.1614T= (p.Asp538=) c.1668T= (p.Asp556=) c.97-6054T= c.357T= (p.Asp119=) n.155T= c.*990T= (n.*990T=) c.155T= c.1698T= (p.Asp566=) c.1593T= (p.Asp531=) c.1584T= (p.Asp528=) c.1545T= (p.Asp515=) c.1491T= (p.Asp497=) c.1395T= (p.Asp465=) c.1365T= (p.Asp455=) c.1290T= (p.Asp430=) c.1188T= (p.Asp396=) c.819T= (p.Asp273=) | |
| 5 | g.112828898G>A | CA16024953 | APC | c.1409-6053G>A (n.1409-6053G>A) c.1723G>A (p.Val575Ile) n.1725G>A c.*1675G>A (n.*1675G>A) c.1615G>A (p.Val539Ile) c.1669G>A (p.Val557Ile) c.97-6053G>A c.358G>A (p.Val120Ile) n.156G>A c.*991G>A (n.*991G>A) c.156G>A c.1699G>A (p.Val567Ile) c.1594G>A (p.Val532Ile) c.1585G>A (p.Val529Ile) c.1546G>A (p.Val516Ile) c.1492G>A (p.Val498Ile) c.1396G>A (p.Val466Ile) c.1366G>A (p.Val456Ile) c.1291G>A (p.Val431Ile) c.1189G>A (p.Val397Ile) c.820G>A (p.Val274Ile) | ClinVar dbSNP |
| 5 | g.112828898G>C | CA16024954 | APC | c.1409-6053G>C (n.1409-6053G>C) c.1723G>C (p.Val575Leu) n.1725G>C c.*1675G>C (n.*1675G>C) c.1615G>C (p.Val539Leu) c.1669G>C (p.Val557Leu) c.97-6053G>C c.358G>C (p.Val120Leu) n.156G>C c.*991G>C (n.*991G>C) c.156G>C c.1699G>C (p.Val567Leu) c.1594G>C (p.Val532Leu) c.1585G>C (p.Val529Leu) c.1546G>C (p.Val516Leu) c.1492G>C (p.Val498Leu) c.1396G>C (p.Val466Leu) c.1366G>C (p.Val456Leu) c.1291G>C (p.Val431Leu) c.1189G>C (p.Val397Leu) c.820G>C (p.Val274Leu) | dbSNP |
| 5 | g.112828898G= | CA1573508737 | APC | c.1409-6053G= (n.1409-6053G=) c.1723G= (p.Val575=) n.1725G= c.*1675G= (n.*1675G=) c.1615G= (p.Val539=) c.1669G= (p.Val557=) c.97-6053G= c.358G= (p.Val120=) n.156G= c.*991G= (n.*991G=) c.156G= c.1699G= (p.Val567=) c.1594G= (p.Val532=) c.1585G= (p.Val529=) c.1546G= (p.Val516=) c.1492G= (p.Val498=) c.1396G= (p.Val466=) c.1366G= (p.Val456=) c.1291G= (p.Val431=) c.1189G= (p.Val397=) c.820G= (p.Val274=) | |
| 5 | g.112828898G>T | CA16024955 | APC | c.1409-6053G>T (n.1409-6053G>T) c.1723G>T (p.Val575Leu) n.1725G>T c.*1675G>T (n.*1675G>T) c.1615G>T (p.Val539Leu) c.1669G>T (p.Val557Leu) c.97-6053G>T c.358G>T (p.Val120Leu) n.156G>T c.*991G>T (n.*991G>T) c.156G>T c.1699G>T (p.Val567Leu) c.1594G>T (p.Val532Leu) c.1585G>T (p.Val529Leu) c.1546G>T (p.Val516Leu) c.1492G>T (p.Val498Leu) c.1396G>T (p.Val466Leu) c.1366G>T (p.Val456Leu) c.1291G>T (p.Val431Leu) c.1189G>T (p.Val397Leu) c.820G>T (p.Val274Leu) | dbSNP |
| 5 | g.112828903_112828909del | CA658760514 | APC | c.1409-6048_1409-6042del (n.1409-6048_1409-6042del) c.1728_1734del (p.Asn576LysfsTer10) n.1730_1736del c.*1680_*1686del (n.*1680_*1686del) c.1620_1626del (p.Asn540LysfsTer10) c.1674_1680del (p.Asn558LysfsTer10) c.97-6048_97-6042del c.363_369del (p.Asn121LysfsTer10) n.161_167del c.*996_*1002del (n.*996_*1002del) c.161_167del c.1704_1710del (p.Asn568LysfsTer10) c.1599_1605del (p.Asn533LysfsTer10) c.1590_1596del (p.Asn530LysfsTer10) c.1551_1557del (p.Asn517LysfsTer10) c.1497_1503del (p.Asn499LysfsTer10) c.1401_1407del (p.Asn467LysfsTer10) c.1371_1377del (p.Asn457LysfsTer10) c.1296_1302del (p.Asn432LysfsTer10) c.1194_1200del (p.Asn398LysfsTer10) c.825_831del (p.Asn275LysfsTer10) | ClinVar |
| 5 | g.112828899del | CA645562801 | APC | c.1409-6052del (n.1409-6052del) c.1724del (p.Val575GlufsTer13) n.1726del c.*1676del (n.*1676del) c.1616del (p.Val539GlufsTer13) c.1670del (p.Val557GlufsTer13) c.97-6052del c.359del (p.Val120GlufsTer13) n.157del c.*992del (n.*992del) c.157del c.1700del (p.Val567GlufsTer13) c.1595del (p.Val532GlufsTer13) c.1586del (p.Val529GlufsTer13) c.1547del (p.Val516GlufsTer13) c.1493del (p.Val498GlufsTer13) c.1397del (p.Val466GlufsTer13) c.1367del (p.Val456GlufsTer13) c.1292del (p.Val431GlufsTer13) c.1190del (p.Val397GlufsTer13) c.821del (p.Val274GlufsTer13) | COSMIC |
| 5 | g.112828899T>A | CA16024956 | APC | c.1409-6052T>A (n.1409-6052T>A) c.1724T>A (p.Val575Glu) n.1726T>A c.*1676T>A (n.*1676T>A) c.1616T>A (p.Val539Glu) c.1670T>A (p.Val557Glu) c.97-6052T>A c.359T>A (p.Val120Glu) n.157T>A c.*992T>A (n.*992T>A) c.157T>A c.1700T>A (p.Val567Glu) c.1595T>A (p.Val532Glu) c.1586T>A (p.Val529Glu) c.1547T>A (p.Val516Glu) c.1493T>A (p.Val498Glu) c.1397T>A (p.Val466Glu) c.1367T>A (p.Val456Glu) c.1292T>A (p.Val431Glu) c.1190T>A (p.Val397Glu) c.821T>A (p.Val274Glu) | |
| 5 | g.112828899T>C | CA16024957 | APC | c.1409-6052T>C (n.1409-6052T>C) c.1724T>C (p.Val575Ala) n.1726T>C c.*1676T>C (n.*1676T>C) c.1616T>C (p.Val539Ala) c.1670T>C (p.Val557Ala) c.97-6052T>C c.359T>C (p.Val120Ala) n.157T>C c.*992T>C (n.*992T>C) c.157T>C c.1700T>C (p.Val567Ala) c.1595T>C (p.Val532Ala) c.1586T>C (p.Val529Ala) c.1547T>C (p.Val516Ala) c.1493T>C (p.Val498Ala) c.1397T>C (p.Val466Ala) c.1367T>C (p.Val456Ala) c.1292T>C (p.Val431Ala) c.1190T>C (p.Val397Ala) c.821T>C (p.Val274Ala) | COSMIC |
| 5 | g.112828899T>G | CA16024958 | APC | c.1409-6052T>G (n.1409-6052T>G) c.1724T>G (p.Val575Gly) n.1726T>G c.*1676T>G (n.*1676T>G) c.1616T>G (p.Val539Gly) c.1670T>G (p.Val557Gly) c.97-6052T>G c.359T>G (p.Val120Gly) n.157T>G c.*992T>G (n.*992T>G) c.157T>G c.1700T>G (p.Val567Gly) c.1595T>G (p.Val532Gly) c.1586T>G (p.Val529Gly) c.1547T>G (p.Val516Gly) c.1493T>G (p.Val498Gly) c.1397T>G (p.Val466Gly) c.1367T>G (p.Val456Gly) c.1292T>G (p.Val431Gly) c.1190T>G (p.Val397Gly) c.821T>G (p.Val274Gly) | |
| 5 | g.112828900A>C | CA445757395 | APC | c.1409-6051A>C (n.1409-6051A>C) c.1725A>C (p.Val575=) n.1727A>C c.*1677A>C (n.*1677A>C) c.1617A>C (p.Val539=) c.1671A>C (p.Val557=) c.97-6051A>C c.360A>C (p.Val120=) n.158A>C c.*993A>C (n.*993A>C) c.158A>C c.1701A>C (p.Val567=) c.1596A>C (p.Val532=) c.1587A>C (p.Val529=) c.1548A>C (p.Val516=) c.1494A>C (p.Val498=) c.1398A>C (p.Val466=) c.1368A>C (p.Val456=) c.1293A>C (p.Val431=) c.1191A>C (p.Val397=) c.822A>C (p.Val274=) | ClinVar dbSNP |
| 5 | g.112828900A>G | CA445757396 | APC | c.1409-6051A>G (n.1409-6051A>G) c.1725A>G (p.Val575=) n.1727A>G c.*1677A>G (n.*1677A>G) c.1617A>G (p.Val539=) c.1671A>G (p.Val557=) c.97-6051A>G c.360A>G (p.Val120=) n.158A>G c.*993A>G (n.*993A>G) c.158A>G c.1701A>G (p.Val567=) c.1596A>G (p.Val532=) c.1587A>G (p.Val529=) c.1548A>G (p.Val516=) c.1494A>G (p.Val498=) c.1398A>G (p.Val466=) c.1368A>G (p.Val456=) c.1293A>G (p.Val431=) c.1191A>G (p.Val397=) c.822A>G (p.Val274=) | ClinVar COSMIC |
| 5 | g.112828900A>T | CA445757397 | APC | c.1409-6051A>T (n.1409-6051A>T) c.1725A>T (p.Val575=) n.1727A>T c.*1677A>T (n.*1677A>T) c.1617A>T (p.Val539=) c.1671A>T (p.Val557=) c.97-6051A>T c.360A>T (p.Val120=) n.158A>T c.*993A>T (n.*993A>T) c.158A>T c.1701A>T (p.Val567=) c.1596A>T (p.Val532=) c.1587A>T (p.Val529=) c.1548A>T (p.Val516=) c.1494A>T (p.Val498=) c.1398A>T (p.Val466=) c.1368A>T (p.Val456=) c.1293A>T (p.Val431=) c.1191A>T (p.Val397=) c.822A>T (p.Val274=) | |
| 5 | g.112828902del | CA2695205032 | APC | c.1409-6049del (n.1409-6049del) c.1727del (p.Asn576IlefsTer12) n.1729del c.*1679del (n.*1679del) c.1619del (p.Asn540IlefsTer12) c.1673del (p.Asn558IlefsTer12) c.97-6049del c.362del (p.Asn121IlefsTer12) n.160del c.*995del (n.*995del) c.160del c.1703del (p.Asn568IlefsTer12) c.1598del (p.Asn533IlefsTer12) c.1589del (p.Asn530IlefsTer12) c.1550del (p.Asn517IlefsTer12) c.1496del (p.Asn499IlefsTer12) c.1400del (p.Asn467IlefsTer12) c.1370del (p.Asn457IlefsTer12) c.1295del (p.Asn432IlefsTer12) c.1193del (p.Asn398IlefsTer12) c.824del (p.Asn275IlefsTer12) | |
| 5 | g.112828901A>C | CA16024959 | APC | c.1409-6050A>C (n.1409-6050A>C) c.1726A>C (p.Asn576His) n.1728A>C c.*1678A>C (n.*1678A>C) c.1618A>C (p.Asn540His) c.1672A>C (p.Asn558His) c.97-6050A>C c.361A>C (p.Asn121His) n.159A>C c.*994A>C (n.*994A>C) c.159A>C c.1702A>C (p.Asn568His) c.1597A>C (p.Asn533His) c.1588A>C (p.Asn530His) c.1549A>C (p.Asn517His) c.1495A>C (p.Asn499His) c.1399A>C (p.Asn467His) c.1369A>C (p.Asn457His) c.1294A>C (p.Asn432His) c.1192A>C (p.Asn398His) c.823A>C (p.Asn275His) | ClinVar |