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 |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | FBXO11,MSH6 | c.163_3349+2del c.460_3262+2del n.544_4320+2del c.460_2080+2del c.460_3652+2del c.460_1101+2del c.460_3646+2del c.238-2715_3256+2del c.169+2491_170-6451del (n.169+2491_170-6451del) c.*124+2290_*125-6451del (n.*124+2290_*125-6451del) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
| 2 | g.47799532_47799572del | CA2697548141 | FBXO11,MSH6 | c.1252_1292del (p.Ile418SerfsTer3) c.1549_1589del (p.Ile517SerfsTer3) n.1633_1673del c.1555_1595del (p.Ile519SerfsTer3) c.627+3469_627+3509del (n.627+3469_627+3509del) c.706_746del (p.Ile236SerfsTer3) c.1159_1199del (p.Ile387SerfsTer3) c.169+8623_169+8663del (n.169+8623_169+8663del) c.*124+8422_*124+8462del (n.*124+8422_*124+8462del) c.*896_*936del (n.*896_*936del) c.643_683del (p.Ile215SerfsTer3) c.1546_1586del (p.Ile516SerfsTer3) c.-1548_-1508del (n.-1548_-1508del) c.1366_1406del (p.Ile456SerfsTer3) | ClinVar |
| 2 | g.47799552_47799555del | CA2573134924 | FBXO11,MSH6 | c.1272_1275del (p.Tyr425ValfsTer?) c.1569_1572del (p.Tyr524ValfsTer?) n.1653_1656del c.1575_1578del (p.Tyr526ValfsTer?) c.627+3489_627+3492del (n.627+3489_627+3492del) c.726_729del (p.Tyr243ValfsTer?) c.1179_1182del (p.Tyr394ValfsTer?) c.169+8642_169+8645del (n.169+8642_169+8645del) c.*124+8441_*124+8444del (n.*124+8441_*124+8444del) c.*916_*919del (n.*916_*919del) c.663_666del (p.Tyr222ValfsTer?) c.1566_1569del (p.Tyr523ValfsTer?) c.-1528_-1525del (n.-1528_-1525del) c.1386_1389del (p.Tyr463ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799553_47799555delinsTAC | CA2496048797 | FBXO11,MSH6 | c.1273_1275delinsTAC (p.Tyr425=) c.1570_1572delinsTAC (p.Tyr524=) n.1654_1656delinsTAC c.1576_1578delinsTAC (p.Tyr526=) c.627+3490_627+3492delinsTAC (n.627+3490_627+3492delinsTAC) c.727_729delinsTAC (p.Tyr243=) c.1180_1182delinsTAC (p.Tyr394=) c.169+8640_169+8642delinsGTA (n.169+8640_169+8642delinsGTA) c.*124+8439_*124+8441delinsGTA (n.*124+8439_*124+8441delinsGTA) c.*917_*919delinsTAC (n.*917_*919delinsTAC) c.664_666delinsTAC (p.Tyr222=) c.1567_1569delinsTAC (p.Tyr523=) c.-1527_-1525delinsTAC (n.-1527_-1525delinsTAC) c.1387_1389delinsTAC (p.Tyr463=) | |
| 2 | g.47799569_47799570insGATACAGTGTGCTGGAAGG | CA2499216103 | FBXO11,MSH6 | c.1289_1290insGATACAGTGTGCTGGAAGG (p.Asp431IlefsTer7) c.1586_1587insGATACAGTGTGCTGGAAGG (p.Asp530IlefsTer7) n.1670_1671insGATACAGTGTGCTGGAAGG c.1592_1593insGATACAGTGTGCTGGAAGG (p.Asp532IlefsTer7) c.627+3506_627+3507insGATACAGTGTGCTGGAAGG (n.627+3506_627+3507insGATACAGTGTGCTGGAAGG) c.743_744insGATACAGTGTGCTGGAAGG (p.Asp249IlefsTer7) c.1196_1197insGATACAGTGTGCTGGAAGG (p.Asp400IlefsTer7) c.169+8642_169+8643insTCCCTTCCAGCACACTGTA (n.169+8642_169+8643insTCCCTTCCAGCACACTGTA) c.*124+8441_*124+8442insTCCCTTCCAGCACACTGTA (n.*124+8441_*124+8442insTCCCTTCCAGCACACTGTA) c.*933_*934insGATACAGTGTGCTGGAAGG (n.*933_*934insGATACAGTGTGCTGGAAGG) c.680_681insGATACAGTGTGCTGGAAGG (p.Asp228IlefsTer7) c.1583_1584insGATACAGTGTGCTGGAAGG (p.Asp529IlefsTer7) c.-1511_-1510insGATACAGTGTGCTGGAAGG (n.-1511_-1510insGATACAGTGTGCTGGAAGG) c.1403_1404insGATACAGTGTGCTGGAAGG (p.Asp469IlefsTer7) | ClinVar dbSNP |
| 2 | g.47799554A= | CA2496048798 | FBXO11,MSH6 | c.1274A= (p.Tyr425=) c.1571A= (p.Tyr524=) n.1655A= c.1577A= (p.Tyr526=) c.627+3491A= (n.627+3491A=) c.728A= (p.Tyr243=) c.1181A= (p.Tyr394=) c.169+8641T= (n.169+8641T=) c.*124+8440T= (n.*124+8440T=) c.*918A= (n.*918A=) c.665A= (p.Tyr222=) c.1568A= (p.Tyr523=) c.-1526A= (n.-1526A=) c.1388A= (p.Tyr463=) | |
| 2 | g.47799554A>C | CA346746792 | FBXO11,MSH6 | c.1274A>C (p.Tyr425Ser) c.1571A>C (p.Tyr524Ser) n.1655A>C c.1577A>C (p.Tyr526Ser) c.627+3491A>C (n.627+3491A>C) c.728A>C (p.Tyr243Ser) c.1181A>C (p.Tyr394Ser) c.169+8641T>G (n.169+8641T>G) c.*124+8440T>G (n.*124+8440T>G) c.*918A>C (n.*918A>C) c.665A>C (p.Tyr222Ser) c.1568A>C (p.Tyr523Ser) c.-1526A>C (n.-1526A>C) c.1388A>C (p.Tyr463Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799554A>G | CA346746788 | FBXO11,MSH6 | c.1274A>G (p.Tyr425Cys) c.1571A>G (p.Tyr524Cys) n.1655A>G c.1577A>G (p.Tyr526Cys) c.627+3491A>G (n.627+3491A>G) c.728A>G (p.Tyr243Cys) c.1181A>G (p.Tyr394Cys) c.169+8641T>C (n.169+8641T>C) c.*124+8440T>C (n.*124+8440T>C) c.*918A>G (n.*918A>G) c.665A>G (p.Tyr222Cys) c.1568A>G (p.Tyr523Cys) c.-1526A>G (n.-1526A>G) c.1388A>G (p.Tyr463Cys) | dbSNP |
| 2 | g.47799554A>T | CA346746785 | FBXO11,MSH6 | c.1274A>T (p.Tyr425Phe) c.1571A>T (p.Tyr524Phe) n.1655A>T c.1577A>T (p.Tyr526Phe) c.627+3491A>T (n.627+3491A>T) c.728A>T (p.Tyr243Phe) c.1181A>T (p.Tyr394Phe) c.169+8641T>A (n.169+8641T>A) c.*124+8440T>A (n.*124+8440T>A) c.*918A>T (n.*918A>T) c.665A>T (p.Tyr222Phe) c.1568A>T (p.Tyr523Phe) c.-1526A>T (n.-1526A>T) c.1388A>T (p.Tyr463Phe) | dbSNP |
| 2 | g.47799554dup | CA645372551 | FBXO11,MSH6 | c.1274dup (p.Tyr425Ter) c.1571dup (p.Tyr524Ter) n.1655dup c.1577dup (p.Tyr526Ter) c.627+3491dup (n.627+3491dup) c.728dup (p.Tyr243Ter) c.1181dup (p.Tyr394Ter) c.169+8641dup (n.169+8641dup) c.*124+8440dup (n.*124+8440dup) c.*918dup (n.*918dup) c.665dup (p.Tyr222Ter) c.1568dup (p.Tyr523Ter) c.-1526dup (n.-1526dup) c.1388dup (p.Tyr463Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799555_47799556del | CA645369250 | FBXO11,MSH6 | c.1275_1276del (p.Tyr425Ter) c.1572_1573del (p.Tyr524Ter) n.1656_1657del c.1578_1579del (p.Tyr526Ter) c.627+3492_627+3493del (n.627+3492_627+3493del) c.729_730del (p.Tyr243Ter) c.1182_1183del (p.Tyr394Ter) c.169+8640_169+8641del (n.169+8640_169+8641del) c.*124+8439_*124+8440del (n.*124+8439_*124+8440del) c.*919_*920del (n.*919_*920del) c.666_667del (p.Tyr222Ter) c.1569_1570del (p.Tyr523Ter) c.-1525_-1524del (n.-1525_-1524del) c.1389_1390del (p.Tyr463Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799555del | CA2580067644 | FBXO11,MSH6 | c.1275del (p.Tyr425Ter) c.1572del (p.Tyr524Ter) n.1656del c.1578del (p.Tyr526Ter) c.627+3492del (n.627+3492del) c.729del (p.Tyr243Ter) c.1182del (p.Tyr394Ter) c.169+8640del (n.169+8640del) c.*124+8439del (n.*124+8439del) c.*919del (n.*919del) c.666del (p.Tyr222Ter) c.1569del (p.Tyr523Ter) c.-1525del (n.-1525del) c.1389del (p.Tyr463Ter) | ClinVar |
| 2 | g.47799555C>A | CA16610964 | FBXO11,MSH6 | c.1275C>A (p.Tyr425Ter) c.1572C>A (p.Tyr524Ter) n.1656C>A c.1578C>A (p.Tyr526Ter) c.627+3492C>A (n.627+3492C>A) c.729C>A (p.Tyr243Ter) c.1182C>A (p.Tyr394Ter) c.169+8640G>T (n.169+8640G>T) c.*124+8439G>T (n.*124+8439G>T) c.*919C>A (n.*919C>A) c.666C>A (p.Tyr222Ter) c.1569C>A (p.Tyr523Ter) c.-1525C>A (n.-1525C>A) c.1389C>A (p.Tyr463Ter) | ClinVar dbSNP COSMIC |
| 2 | g.47799555C= | CA2496048799 | FBXO11,MSH6 | c.1275C= (p.Tyr425=) c.1572C= (p.Tyr524=) n.1656C= c.1578C= (p.Tyr526=) c.627+3492C= (n.627+3492C=) c.729C= (p.Tyr243=) c.1182C= (p.Tyr394=) c.169+8640G= (n.169+8640G=) c.*124+8439G= (n.*124+8439G=) c.*919C= (n.*919C=) c.666C= (p.Tyr222=) c.1569C= (p.Tyr523=) c.-1525C= (n.-1525C=) c.1389C= (p.Tyr463=) | |
| 2 | g.47799555C>G | CA008805 | FBXO11,MSH6 | c.1275C>G (p.Tyr425Ter) c.1572C>G (p.Tyr524Ter) n.1656C>G c.1578C>G (p.Tyr526Ter) c.627+3492C>G (n.627+3492C>G) c.729C>G (p.Tyr243Ter) c.1182C>G (p.Tyr394Ter) c.169+8640G>C (n.169+8640G>C) c.*124+8439G>C (n.*124+8439G>C) c.*919C>G (n.*919C>G) c.666C>G (p.Tyr222Ter) c.1569C>G (p.Tyr523Ter) c.-1525C>G (n.-1525C>G) c.1389C>G (p.Tyr463Ter) | ClinVar dbSNP |
| 2 | g.47799555C>T | CA16604312 | FBXO11,MSH6 | c.1275C>T (p.Tyr425=) c.1572C>T (p.Tyr524=) n.1656C>T c.1578C>T (p.Tyr526=) c.627+3492C>T (n.627+3492C>T) c.729C>T (p.Tyr243=) c.1182C>T (p.Tyr394=) c.169+8640G>A (n.169+8640G>A) c.*124+8439G>A (n.*124+8439G>A) c.*919C>T (n.*919C>T) c.666C>T (p.Tyr222=) c.1569C>T (p.Tyr523=) c.-1525C>T (n.-1525C>T) c.1389C>T (p.Tyr463=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47799556A= | CA2496048800 | FBXO11,MSH6 | c.1276A= (p.Ser426=) c.1573A= (p.Ser525=) n.1657A= c.1579A= (p.Ser527=) c.627+3493A= (n.627+3493A=) c.730A= (p.Ser244=) c.1183A= (p.Ser395=) c.169+8639T= (n.169+8639T=) c.*124+8438T= (n.*124+8438T=) c.*920A= (n.*920A=) c.667A= (p.Ser223=) c.1570A= (p.Ser524=) c.-1524A= (n.-1524A=) c.1390A= (p.Ser464=) | |
| 2 | g.47799556A>C | CA346746803 | FBXO11,MSH6 | c.1276A>C (p.Ser426Arg) c.1573A>C (p.Ser525Arg) n.1657A>C c.1579A>C (p.Ser527Arg) c.627+3493A>C (n.627+3493A>C) c.730A>C (p.Ser244Arg) c.1183A>C (p.Ser395Arg) c.169+8639T>G (n.169+8639T>G) c.*124+8438T>G (n.*124+8438T>G) c.*920A>C (n.*920A>C) c.667A>C (p.Ser223Arg) c.1570A>C (p.Ser524Arg) c.-1524A>C (n.-1524A>C) c.1390A>C (p.Ser464Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799556A>G | CA346746806 | FBXO11,MSH6 | c.1276A>G (p.Ser426Gly) c.1573A>G (p.Ser525Gly) n.1657A>G c.1579A>G (p.Ser527Gly) c.627+3493A>G (n.627+3493A>G) c.730A>G (p.Ser244Gly) c.1183A>G (p.Ser395Gly) c.169+8639T>C (n.169+8639T>C) c.*124+8438T>C (n.*124+8438T>C) c.*920A>G (n.*920A>G) c.667A>G (p.Ser223Gly) c.1570A>G (p.Ser524Gly) c.-1524A>G (n.-1524A>G) c.1390A>G (p.Ser464Gly) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799556A>T | CA346746809 | FBXO11,MSH6 | c.1276A>T (p.Ser426Cys) c.1573A>T (p.Ser525Cys) n.1657A>T c.1579A>T (p.Ser527Cys) c.627+3493A>T (n.627+3493A>T) c.730A>T (p.Ser244Cys) c.1183A>T (p.Ser395Cys) c.169+8639T>A (n.169+8639T>A) c.*124+8438T>A (n.*124+8438T>A) c.*920A>T (n.*920A>T) c.667A>T (p.Ser223Cys) c.1570A>T (p.Ser524Cys) c.-1524A>T (n.-1524A>T) c.1390A>T (p.Ser464Cys) | dbSNP |
| 2 | g.47799557_47804482dup | CA10575504 | FBXO11,MSH6 | c.1277_3142-428dup c.1574_3173-1136dup n.1658_3523-428dup c.1574_1873-428dup c.1580_3445-428dup c.627+3494_894-428dup c.731_2330-1136dup c.1574_3439-428dup c.1184_3049-428dup c.169+3714_169+8639dup (n.169+3714_169+8639dup) c.*124+3513_*124+8438dup (n.*124+3513_*124+8438dup) c.*921_*2786-428dup c.668_2533-428dup c.-1523_335-420dup c.1391_3256-428dup | ClinVar |
| 2 | g.47799557G>A | CA067856 | FBXO11,MSH6 | c.1277G>A (p.Ser426Asn) c.1574G>A (p.Ser525Asn) n.1658G>A c.1580G>A (p.Ser527Asn) c.627+3494G>A (n.627+3494G>A) c.731G>A (p.Ser244Asn) c.1184G>A (p.Ser395Asn) c.169+8638C>T (n.169+8638C>T) c.*124+8437C>T (n.*124+8437C>T) c.*921G>A (n.*921G>A) c.668G>A (p.Ser223Asn) c.1571G>A (p.Ser524Asn) c.-1523G>A (n.-1523G>A) c.1391G>A (p.Ser464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47799557G>C | CA346746817 | FBXO11,MSH6 | c.1277G>C (p.Ser426Thr) c.1574G>C (p.Ser525Thr) n.1658G>C c.1580G>C (p.Ser527Thr) c.627+3494G>C (n.627+3494G>C) c.731G>C (p.Ser244Thr) c.1184G>C (p.Ser395Thr) c.169+8638C>G (n.169+8638C>G) c.*124+8437C>G (n.*124+8437C>G) c.*921G>C (n.*921G>C) c.668G>C (p.Ser223Thr) c.1571G>C (p.Ser524Thr) c.-1523G>C (n.-1523G>C) c.1391G>C (p.Ser464Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799557G= | CA2496048801 | FBXO11,MSH6 | c.1277G= (p.Ser426=) c.1574G= (p.Ser525=) n.1658G= c.1580G= (p.Ser527=) c.627+3494G= (n.627+3494G=) c.731G= (p.Ser244=) c.1184G= (p.Ser395=) c.169+8638C= (n.169+8638C=) c.*124+8437C= (n.*124+8437C=) c.*921G= (n.*921G=) c.668G= (p.Ser223=) c.1571G= (p.Ser524=) c.-1523G= (n.-1523G=) c.1391G= (p.Ser464=) | |
| 2 | g.47799557G>T | CA346746814 | FBXO11,MSH6 | c.1277G>T (p.Ser426Ile) c.1574G>T (p.Ser525Ile) n.1658G>T c.1580G>T (p.Ser527Ile) c.627+3494G>T (n.627+3494G>T) c.731G>T (p.Ser244Ile) c.1184G>T (p.Ser395Ile) c.169+8638C>A (n.169+8638C>A) c.*124+8437C>A (n.*124+8437C>A) c.*921G>T (n.*921G>T) c.668G>T (p.Ser223Ile) c.1571G>T (p.Ser524Ile) c.-1523G>T (n.-1523G>T) c.1391G>T (p.Ser464Ile) | dbSNP |
| 2 | g.47799560_47799561dup | CA2580611333 | FBXO11,MSH6 | c.1280_1281dup (p.Leu428CysfsTer?) c.1577_1578dup (p.Leu527CysfsTer?) n.1661_1662dup c.1583_1584dup (p.Leu529CysfsTer?) c.627+3497_627+3498dup (n.627+3497_627+3498dup) c.734_735dup (p.Leu246CysfsTer?) c.1187_1188dup (p.Leu397CysfsTer?) c.169+8637_169+8638dup (n.169+8637_169+8638dup) c.*124+8436_*124+8437dup (n.*124+8436_*124+8437dup) c.*924_*925dup (n.*924_*925dup) c.671_672dup (p.Leu225CysfsTer?) c.1574_1575dup (p.Leu526CysfsTer?) c.-1520_-1519dup (n.-1520_-1519dup) c.1394_1395dup (p.Leu466CysfsTer?) | ClinVar |
| 2 | g.47799560_47799561del | CA2695200597 | FBXO11,MSH6 | c.1280_1281del (p.Val427AlafsTer4) c.1577_1578del (p.Val526AlafsTer4) n.1661_1662del c.1583_1584del (p.Val528AlafsTer4) c.627+3497_627+3498del (n.627+3497_627+3498del) c.734_735del (p.Val245AlafsTer4) c.1187_1188del (p.Val396AlafsTer4) c.169+8637_169+8638del (n.169+8637_169+8638del) c.*124+8436_*124+8437del (n.*124+8436_*124+8437del) c.*924_*925del (n.*924_*925del) c.671_672del (p.Val224AlafsTer4) c.1574_1575del (p.Val525AlafsTer4) c.-1520_-1519del (n.-1520_-1519del) c.1394_1395del (p.Val465AlafsTer4) | ClinVar |
| 2 | g.47799558T>A | CA346746821 | FBXO11,MSH6 | c.1278T>A (p.Ser426Arg) c.1575T>A (p.Ser525Arg) n.1659T>A c.1581T>A (p.Ser527Arg) c.627+3495T>A (n.627+3495T>A) c.732T>A (p.Ser244Arg) c.1185T>A (p.Ser395Arg) c.169+8637A>T (n.169+8637A>T) c.*124+8436A>T (n.*124+8436A>T) c.*922T>A (n.*922T>A) c.669T>A (p.Ser223Arg) c.1572T>A (p.Ser524Arg) c.-1522T>A (n.-1522T>A) c.1392T>A (p.Ser464Arg) | dbSNP |
| 2 | g.47799558T>C | CA426121358 | FBXO11,MSH6 | c.1278T>C (p.Ser426=) c.1575T>C (p.Ser525=) n.1659T>C c.1581T>C (p.Ser527=) c.627+3495T>C (n.627+3495T>C) c.732T>C (p.Ser244=) c.1185T>C (p.Ser395=) c.169+8637A>G (n.169+8637A>G) c.*124+8436A>G (n.*124+8436A>G) c.*922T>C (n.*922T>C) c.669T>C (p.Ser223=) c.1572T>C (p.Ser524=) c.-1522T>C (n.-1522T>C) c.1392T>C (p.Ser464=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47799558T>G | CA346746822 | FBXO11,MSH6 | c.1278T>G (p.Ser426Arg) c.1575T>G (p.Ser525Arg) n.1659T>G c.1581T>G (p.Ser527Arg) c.627+3495T>G (n.627+3495T>G) c.732T>G (p.Ser244Arg) c.1185T>G (p.Ser395Arg) c.169+8637A>C (n.169+8637A>C) c.*124+8436A>C (n.*124+8436A>C) c.*922T>G (n.*922T>G) c.669T>G (p.Ser223Arg) c.1572T>G (p.Ser524Arg) c.-1522T>G (n.-1522T>G) c.1392T>G (p.Ser464Arg) | |
| 2 | g.47799558T= | CA2496048802 | FBXO11,MSH6 | c.1278T= (p.Ser426=) c.1575T= (p.Ser525=) n.1659T= c.1581T= (p.Ser527=) c.627+3495T= (n.627+3495T=) c.732T= (p.Ser244=) c.1185T= (p.Ser395=) c.169+8637A= (n.169+8637A=) c.*124+8436A= (n.*124+8436A=) c.*922T= (n.*922T=) c.669T= (p.Ser223=) c.1572T= (p.Ser524=) c.-1522T= (n.-1522T=) c.1392T= (p.Ser464=) | |
| 2 | g.47799559G>A | CA16611129 | FBXO11,MSH6 | c.1279G>A (p.Val427Met) c.1576G>A (p.Val526Met) n.1660G>A c.1582G>A (p.Val528Met) c.627+3496G>A (n.627+3496G>A) c.733G>A (p.Val245Met) c.1186G>A (p.Val396Met) c.169+8636C>T (n.169+8636C>T) c.*124+8435C>T (n.*124+8435C>T) c.*923G>A (n.*923G>A) c.670G>A (p.Val224Met) c.1573G>A (p.Val525Met) c.-1521G>A (n.-1521G>A) c.1393G>A (p.Val465Met) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799559G>C | CA346746823 | FBXO11,MSH6 | c.1279G>C (p.Val427Leu) c.1576G>C (p.Val526Leu) n.1660G>C c.1582G>C (p.Val528Leu) c.627+3496G>C (n.627+3496G>C) c.733G>C (p.Val245Leu) c.1186G>C (p.Val396Leu) c.169+8636C>G (n.169+8636C>G) c.*124+8435C>G (n.*124+8435C>G) c.*923G>C (n.*923G>C) c.670G>C (p.Val224Leu) c.1573G>C (p.Val525Leu) c.-1521G>C (n.-1521G>C) c.1393G>C (p.Val465Leu) | ClinVar dbSNP |
| 2 | g.47799559G= | CA2496048803 | FBXO11,MSH6 | c.1279G= (p.Val427=) c.1576G= (p.Val526=) n.1660G= c.1582G= (p.Val528=) c.627+3496G= (n.627+3496G=) c.733G= (p.Val245=) c.1186G= (p.Val396=) c.169+8636C= (n.169+8636C=) c.*124+8435C= (n.*124+8435C=) c.*923G= (n.*923G=) c.670G= (p.Val224=) c.1573G= (p.Val525=) c.-1521G= (n.-1521G=) c.1393G= (p.Val465=) | |
| 2 | g.47799559G>T | CA346746824 | FBXO11,MSH6 | c.1279G>T (p.Val427Leu) c.1576G>T (p.Val526Leu) n.1660G>T c.1582G>T (p.Val528Leu) c.627+3496G>T (n.627+3496G>T) c.733G>T (p.Val245Leu) c.1186G>T (p.Val396Leu) c.169+8636C>A (n.169+8636C>A) c.*124+8435C>A (n.*124+8435C>A) c.*923G>T (n.*923G>T) c.670G>T (p.Val224Leu) c.1573G>T (p.Val525Leu) c.-1521G>T (n.-1521G>T) c.1393G>T (p.Val465Leu) | |
| 2 | g.47799560T>A | CA346746828 | FBXO11,MSH6 | c.1280T>A (p.Val427Glu) c.1577T>A (p.Val526Glu) n.1661T>A c.1583T>A (p.Val528Glu) c.627+3497T>A (n.627+3497T>A) c.734T>A (p.Val245Glu) c.1187T>A (p.Val396Glu) c.169+8635A>T (n.169+8635A>T) c.*124+8434A>T (n.*124+8434A>T) c.*924T>A (n.*924T>A) c.671T>A (p.Val224Glu) c.1574T>A (p.Val525Glu) c.-1520T>A (n.-1520T>A) c.1394T>A (p.Val465Glu) | dbSNP |
| 2 | g.47799560T>C | CA346746830 | FBXO11,MSH6 | c.1280T>C (p.Val427Ala) c.1577T>C (p.Val526Ala) n.1661T>C c.1583T>C (p.Val528Ala) c.627+3497T>C (n.627+3497T>C) c.734T>C (p.Val245Ala) c.1187T>C (p.Val396Ala) c.169+8635A>G (n.169+8635A>G) c.*124+8434A>G (n.*124+8434A>G) c.*924T>C (n.*924T>C) c.671T>C (p.Val224Ala) c.1574T>C (p.Val525Ala) c.-1520T>C (n.-1520T>C) c.1394T>C (p.Val465Ala) | |
| 2 | g.47799560T>G | CA346746833 | FBXO11,MSH6 | c.1280T>G (p.Val427Gly) c.1577T>G (p.Val526Gly) n.1661T>G c.1583T>G (p.Val528Gly) c.627+3497T>G (n.627+3497T>G) c.734T>G (p.Val245Gly) c.1187T>G (p.Val396Gly) c.169+8635A>C (n.169+8635A>C) c.*124+8434A>C (n.*124+8434A>C) c.*924T>G (n.*924T>G) c.671T>G (p.Val224Gly) c.1574T>G (p.Val525Gly) c.-1520T>G (n.-1520T>G) c.1394T>G (p.Val465Gly) | dbSNP |
| 2 | g.47799561G>A | CA426121364 | FBXO11,MSH6 | c.1281G>A (p.Val427=) c.1578G>A (p.Val526=) n.1662G>A c.1584G>A (p.Val528=) c.627+3498G>A (n.627+3498G>A) c.735G>A (p.Val245=) c.1188G>A (p.Val396=) c.169+8634C>T (n.169+8634C>T) c.*124+8433C>T (n.*124+8433C>T) c.*925G>A (n.*925G>A) c.672G>A (p.Val224=) c.1575G>A (p.Val525=) c.-1519G>A (n.-1519G>A) c.1395G>A (p.Val465=) | ClinVar dbSNP |
| 2 | g.47799561G>C | CA426121365 | FBXO11,MSH6 | c.1281G>C (p.Val427=) c.1578G>C (p.Val526=) n.1662G>C c.1584G>C (p.Val528=) c.627+3498G>C (n.627+3498G>C) c.735G>C (p.Val245=) c.1188G>C (p.Val396=) c.169+8634C>G (n.169+8634C>G) c.*124+8433C>G (n.*124+8433C>G) c.*925G>C (n.*925G>C) c.672G>C (p.Val224=) c.1575G>C (p.Val525=) c.-1519G>C (n.-1519G>C) c.1395G>C (p.Val465=) | dbSNP |
| 2 | g.47799561G= | CA2496048804 | FBXO11,MSH6 | c.1281G= (p.Val427=) c.1578G= (p.Val526=) n.1662G= c.1584G= (p.Val528=) c.627+3498G= (n.627+3498G=) c.735G= (p.Val245=) c.1188G= (p.Val396=) c.169+8634C= (n.169+8634C=) c.*124+8433C= (n.*124+8433C=) c.*925G= (n.*925G=) c.672G= (p.Val224=) c.1575G= (p.Val525=) c.-1519G= (n.-1519G=) c.1395G= (p.Val465=) | |
| 2 | g.47799561G>T | CA426121366 | FBXO11,MSH6 | c.1281G>T (p.Val427=) c.1578G>T (p.Val526=) n.1662G>T c.1584G>T (p.Val528=) c.627+3498G>T (n.627+3498G>T) c.735G>T (p.Val245=) c.1188G>T (p.Val396=) c.169+8634C>A (n.169+8634C>A) c.*124+8433C>A (n.*124+8433C>A) c.*925G>T (n.*925G>T) c.672G>T (p.Val224=) c.1575G>T (p.Val525=) c.-1519G>T (n.-1519G>T) c.1395G>T (p.Val465=) | dbSNP |
| 2 | g.47799562C>A | CA346746836 | FBXO11,MSH6 | c.1282C>A (p.Leu428Met) c.1579C>A (p.Leu527Met) n.1663C>A c.1585C>A (p.Leu529Met) c.627+3499C>A (n.627+3499C>A) c.736C>A (p.Leu246Met) c.1189C>A (p.Leu397Met) c.169+8633G>T (n.169+8633G>T) c.*124+8432G>T (n.*124+8432G>T) c.*926C>A (n.*926C>A) c.673C>A (p.Leu225Met) c.1576C>A (p.Leu526Met) c.-1518C>A (n.-1518C>A) c.1396C>A (p.Leu466Met) | dbSNP |
| 2 | g.47799562C= | CA2496048805 | FBXO11,MSH6 | c.1282C= (p.Leu428=) c.1579C= (p.Leu527=) n.1663C= c.1585C= (p.Leu529=) c.627+3499C= (n.627+3499C=) c.736C= (p.Leu246=) c.1189C= (p.Leu397=) c.169+8633G= (n.169+8633G=) c.*124+8432G= (n.*124+8432G=) c.*926C= (n.*926C=) c.673C= (p.Leu225=) c.1576C= (p.Leu526=) c.-1518C= (n.-1518C=) c.1396C= (p.Leu466=) | |
| 2 | g.47799562C>G | CA346746840 | FBXO11,MSH6 | c.1282C>G (p.Leu428Val) c.1579C>G (p.Leu527Val) n.1663C>G c.1585C>G (p.Leu529Val) c.627+3499C>G (n.627+3499C>G) c.736C>G (p.Leu246Val) c.1189C>G (p.Leu397Val) c.169+8633G>C (n.169+8633G>C) c.*124+8432G>C (n.*124+8432G>C) c.*926C>G (n.*926C>G) c.673C>G (p.Leu225Val) c.1576C>G (p.Leu526Val) c.-1518C>G (n.-1518C>G) c.1396C>G (p.Leu466Val) | |
| 2 | g.47799562C>T | CA426121371 | FBXO11,MSH6 | c.1282C>T (p.Leu428=) c.1579C>T (p.Leu527=) n.1663C>T c.1585C>T (p.Leu529=) c.627+3499C>T (n.627+3499C>T) c.736C>T (p.Leu246=) c.1189C>T (p.Leu397=) c.169+8633G>A (n.169+8633G>A) c.*124+8432G>A (n.*124+8432G>A) c.*926C>T (n.*926C>T) c.673C>T (p.Leu225=) c.1576C>T (p.Leu526=) c.-1518C>T (n.-1518C>T) c.1396C>T (p.Leu466=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47799562_47799563delinsCT | CA2496048806 | FBXO11,MSH6 | c.1282_1283delinsCT (p.Leu428=) c.1579_1580delinsCT (p.Leu527=) n.1663_1664delinsCT c.1585_1586delinsCT (p.Leu529=) c.627+3499_627+3500delinsCT (n.627+3499_627+3500delinsCT) c.736_737delinsCT (p.Leu246=) c.1189_1190delinsCT (p.Leu397=) c.169+8632_169+8633delinsAG (n.169+8632_169+8633delinsAG) c.*124+8431_*124+8432delinsAG (n.*124+8431_*124+8432delinsAG) c.*926_*927delinsCT (n.*926_*927delinsCT) c.673_674delinsCT (p.Leu225=) c.1576_1577delinsCT (p.Leu526=) c.-1518_-1517delinsCT (n.-1518_-1517delinsCT) c.1396_1397delinsCT (p.Leu466=) | |
| 2 | g.47799563del | CA008812 | FBXO11,MSH6 | c.1283del (p.Leu428ArgfsTer?) c.1580del (p.Leu527ArgfsTer?) n.1664del c.1580del (p.Leu527ArgfsTer30) c.1586del (p.Leu529ArgfsTer?) c.627+3500del (n.627+3500del) c.737del (p.Leu246ArgfsTer?) c.1190del (p.Leu397ArgfsTer?) c.169+8632del (n.169+8632del) c.*124+8431del (n.*124+8431del) c.*927del (n.*927del) c.674del (p.Leu225ArgfsTer?) c.1577del (p.Leu526ArgfsTer?) c.-1517del (n.-1517del) c.1397del (p.Leu466ArgfsTer?) | ClinVar dbSNP |
| 2 | g.47799563T>A | CA346746844 | FBXO11,MSH6 | c.1283T>A (p.Leu428Gln) c.1580T>A (p.Leu527Gln) n.1664T>A c.1586T>A (p.Leu529Gln) c.627+3500T>A (n.627+3500T>A) c.737T>A (p.Leu246Gln) c.1190T>A (p.Leu397Gln) c.169+8632A>T (n.169+8632A>T) c.*124+8431A>T (n.*124+8431A>T) c.*927T>A (n.*927T>A) c.674T>A (p.Leu225Gln) c.1577T>A (p.Leu526Gln) c.-1517T>A (n.-1517T>A) c.1397T>A (p.Leu466Gln) | |
| 2 | g.47799563T>C | CA346746846 | FBXO11,MSH6 | c.1283T>C (p.Leu428Pro) c.1580T>C (p.Leu527Pro) n.1664T>C c.1586T>C (p.Leu529Pro) c.627+3500T>C (n.627+3500T>C) c.737T>C (p.Leu246Pro) c.1190T>C (p.Leu397Pro) c.169+8632A>G (n.169+8632A>G) c.*124+8431A>G (n.*124+8431A>G) c.*927T>C (n.*927T>C) c.674T>C (p.Leu225Pro) c.1577T>C (p.Leu526Pro) c.-1517T>C (n.-1517T>C) c.1397T>C (p.Leu466Pro) |