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.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.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.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.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) | |
| 5 | g.112828886T>C | CA16024930 | APC | c.1409-6065T>C (n.1409-6065T>C) c.1711T>C (p.Trp571Arg) n.1713T>C c.*1663T>C (n.*1663T>C) c.1603T>C (p.Trp535Arg) c.1657T>C (p.Trp553Arg) c.97-6065T>C c.346T>C (p.Trp116Arg) n.144T>C c.*979T>C (n.*979T>C) c.144T>C c.1687T>C (p.Trp563Arg) c.1582T>C (p.Trp528Arg) c.1573T>C (p.Trp525Arg) c.1534T>C (p.Trp512Arg) c.1480T>C (p.Trp494Arg) c.1384T>C (p.Trp462Arg) c.1354T>C (p.Trp452Arg) c.1279T>C (p.Trp427Arg) c.1177T>C (p.Trp393Arg) c.808T>C (p.Trp270Arg) | |
| 5 | g.112828886T>G | CA16024931 | APC | c.1409-6065T>G (n.1409-6065T>G) c.1711T>G (p.Trp571Gly) n.1713T>G c.*1663T>G (n.*1663T>G) c.1603T>G (p.Trp535Gly) c.1657T>G (p.Trp553Gly) c.97-6065T>G c.346T>G (p.Trp116Gly) n.144T>G c.*979T>G (n.*979T>G) c.144T>G c.1687T>G (p.Trp563Gly) c.1582T>G (p.Trp528Gly) c.1573T>G (p.Trp525Gly) c.1534T>G (p.Trp512Gly) c.1480T>G (p.Trp494Gly) c.1384T>G (p.Trp462Gly) c.1354T>G (p.Trp452Gly) c.1279T>G (p.Trp427Gly) c.1177T>G (p.Trp393Gly) c.808T>G (p.Trp270Gly) | |
| 5 | g.112828887G>A | CA279734 | APC | c.1409-6064G>A (n.1409-6064G>A) c.1712G>A (p.Trp571Ter) n.1714G>A c.*1664G>A (n.*1664G>A) c.1604G>A (p.Trp535Ter) c.1658G>A (p.Trp553Ter) c.97-6064G>A c.347G>A (p.Trp116Ter) n.145G>A c.*980G>A (n.*980G>A) c.145G>A c.1688G>A (p.Trp563Ter) c.1583G>A (p.Trp528Ter) c.1574G>A (p.Trp525Ter) c.1535G>A (p.Trp512Ter) c.1481G>A (p.Trp494Ter) c.1385G>A (p.Trp462Ter) c.1355G>A (p.Trp452Ter) c.1280G>A (p.Trp427Ter) c.1178G>A (p.Trp393Ter) c.809G>A (p.Trp270Ter) | ClinVar dbSNP |
| 5 | g.112828887G>C | CA16024932 | APC | c.1409-6064G>C (n.1409-6064G>C) c.1712G>C (p.Trp571Ser) n.1714G>C c.*1664G>C (n.*1664G>C) c.1604G>C (p.Trp535Ser) c.1658G>C (p.Trp553Ser) c.97-6064G>C c.347G>C (p.Trp116Ser) n.145G>C c.*980G>C (n.*980G>C) c.145G>C c.1688G>C (p.Trp563Ser) c.1583G>C (p.Trp528Ser) c.1574G>C (p.Trp525Ser) c.1535G>C (p.Trp512Ser) c.1481G>C (p.Trp494Ser) c.1385G>C (p.Trp462Ser) c.1355G>C (p.Trp452Ser) c.1280G>C (p.Trp427Ser) c.1178G>C (p.Trp393Ser) c.809G>C (p.Trp270Ser) | dbSNP |
| 5 | g.112828887G= | CA1573508690 | APC | c.1409-6064G= (n.1409-6064G=) c.1712G= (p.Trp571=) n.1714G= c.*1664G= (n.*1664G=) c.1604G= (p.Trp535=) c.1658G= (p.Trp553=) c.97-6064G= c.347G= (p.Trp116=) n.145G= c.*980G= (n.*980G=) c.145G= c.1688G= (p.Trp563=) c.1583G= (p.Trp528=) c.1574G= (p.Trp525=) c.1535G= (p.Trp512=) c.1481G= (p.Trp494=) c.1385G= (p.Trp462=) c.1355G= (p.Trp452=) c.1280G= (p.Trp427=) c.1178G= (p.Trp393=) c.809G= (p.Trp270=) | |
| 5 | g.112828887G>T | CA16024933 | APC | c.1409-6064G>T (n.1409-6064G>T) c.1712G>T (p.Trp571Leu) n.1714G>T c.*1664G>T (n.*1664G>T) c.1604G>T (p.Trp535Leu) c.1658G>T (p.Trp553Leu) c.97-6064G>T c.347G>T (p.Trp116Leu) n.145G>T c.*980G>T (n.*980G>T) c.145G>T c.1688G>T (p.Trp563Leu) c.1583G>T (p.Trp528Leu) c.1574G>T (p.Trp525Leu) c.1535G>T (p.Trp512Leu) c.1481G>T (p.Trp494Leu) c.1385G>T (p.Trp462Leu) c.1355G>T (p.Trp452Leu) c.1280G>T (p.Trp427Leu) c.1178G>T (p.Trp393Leu) c.809G>T (p.Trp270Leu) | ClinVar |
| 5 | g.112828888G>A | CA005417 | APC | c.1409-6063G>A (n.1409-6063G>A) c.1713G>A (p.Trp571Ter) n.1715G>A c.*1665G>A (n.*1665G>A) c.1605G>A (p.Trp535Ter) c.1659G>A (p.Trp553Ter) c.97-6063G>A c.348G>A (p.Trp116Ter) n.146G>A c.*981G>A (n.*981G>A) c.146G>A c.1689G>A (p.Trp563Ter) c.1584G>A (p.Trp528Ter) c.1575G>A (p.Trp525Ter) c.1536G>A (p.Trp512Ter) c.1482G>A (p.Trp494Ter) c.1386G>A (p.Trp462Ter) c.1356G>A (p.Trp452Ter) c.1281G>A (p.Trp427Ter) c.1179G>A (p.Trp393Ter) c.810G>A (p.Trp270Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112828888G>C | CA16024934 | APC | c.1409-6063G>C (n.1409-6063G>C) c.1713G>C (p.Trp571Cys) n.1715G>C c.*1665G>C (n.*1665G>C) c.1605G>C (p.Trp535Cys) c.1659G>C (p.Trp553Cys) c.97-6063G>C c.348G>C (p.Trp116Cys) n.146G>C c.*981G>C (n.*981G>C) c.146G>C c.1689G>C (p.Trp563Cys) c.1584G>C (p.Trp528Cys) c.1575G>C (p.Trp525Cys) c.1536G>C (p.Trp512Cys) c.1482G>C (p.Trp494Cys) c.1386G>C (p.Trp462Cys) c.1356G>C (p.Trp452Cys) c.1281G>C (p.Trp427Cys) c.1179G>C (p.Trp393Cys) c.810G>C (p.Trp270Cys) | dbSNP |
| 5 | g.112828888G= | CA1573508697 | APC | c.1409-6063G= (n.1409-6063G=) c.1713G= (p.Trp571=) n.1715G= c.*1665G= (n.*1665G=) c.1605G= (p.Trp535=) c.1659G= (p.Trp553=) c.97-6063G= c.348G= (p.Trp116=) n.146G= c.*981G= (n.*981G=) c.146G= c.1689G= (p.Trp563=) c.1584G= (p.Trp528=) c.1575G= (p.Trp525=) c.1536G= (p.Trp512=) c.1482G= (p.Trp494=) c.1386G= (p.Trp462=) c.1356G= (p.Trp452=) c.1281G= (p.Trp427=) c.1179G= (p.Trp393=) c.810G= (p.Trp270=) | |
| 5 | g.112828888G>T | CA16024935 | APC | c.1409-6063G>T (n.1409-6063G>T) c.1713G>T (p.Trp571Cys) n.1715G>T c.*1665G>T (n.*1665G>T) c.1605G>T (p.Trp535Cys) c.1659G>T (p.Trp553Cys) c.97-6063G>T c.348G>T (p.Trp116Cys) n.146G>T c.*981G>T (n.*981G>T) c.146G>T c.1689G>T (p.Trp563Cys) c.1584G>T (p.Trp528Cys) c.1575G>T (p.Trp525Cys) c.1536G>T (p.Trp512Cys) c.1482G>T (p.Trp494Cys) c.1386G>T (p.Trp462Cys) c.1356G>T (p.Trp452Cys) c.1281G>T (p.Trp427Cys) c.1179G>T (p.Trp393Cys) c.810G>T (p.Trp270Cys) | dbSNP |
| 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 |