WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.47799581_47799606del | CA645509049 | FBXO11,MSH6 | c.1301_1326del (p.Glu434AlafsTer21) c.1598_1623del (p.Glu533AlafsTer21) n.1682_1707del c.1598_1606+17del c.1604_1629del (p.Glu535AlafsTer21) c.627+3518_627+3543del (n.627+3518_627+3543del) c.755_780del (p.Glu252AlafsTer21) c.1208_1233del (p.Glu403AlafsTer21) c.169+8589_169+8614del (n.169+8589_169+8614del) c.*124+8388_*124+8413del (n.*124+8388_*124+8413del) c.*945_*970del (n.*945_*970del) c.692_717del (p.Glu231AlafsTer21) c.1595_1620del (p.Glu532AlafsTer21) c.-1499_-1474del (n.-1499_-1474del) c.1415_1440del (p.Glu472AlafsTer21) | |
| 2 | g.47799606C>A | CA346747082 | FBXO11,MSH6 | c.1326C>A (p.Ser442Arg) c.1623C>A (p.Ser541Arg) n.1707C>A c.1606+17C>A (n.1606+17C>A) c.1629C>A (p.Ser543Arg) c.627+3543C>A (n.627+3543C>A) c.780C>A (p.Ser260Arg) c.1233C>A (p.Ser411Arg) c.169+8589G>T (n.169+8589G>T) c.*124+8388G>T (n.*124+8388G>T) c.*970C>A (n.*970C>A) c.717C>A (p.Ser239Arg) c.1620C>A (p.Ser540Arg) c.-1474C>A (n.-1474C>A) c.1440C>A (p.Ser480Arg) | |
| 2 | g.47799606C= | CA2496048845 | FBXO11,MSH6 | c.1326C= (p.Ser442=) c.1623C= (p.Ser541=) n.1707C= c.1606+17C= (n.1606+17C=) c.1629C= (p.Ser543=) c.627+3543C= (n.627+3543C=) c.780C= (p.Ser260=) c.1233C= (p.Ser411=) c.169+8589G= (n.169+8589G=) c.*124+8388G= (n.*124+8388G=) c.*970C= (n.*970C=) c.717C= (p.Ser239=) c.1620C= (p.Ser540=) c.-1474C= (n.-1474C=) c.1440C= (p.Ser480=) | |
| 2 | g.47799606C>G | CA346747078 | FBXO11,MSH6 | c.1326C>G (p.Ser442Arg) c.1623C>G (p.Ser541Arg) n.1707C>G c.1606+17C>G (n.1606+17C>G) c.1629C>G (p.Ser543Arg) c.627+3543C>G (n.627+3543C>G) c.780C>G (p.Ser260Arg) c.1233C>G (p.Ser411Arg) c.169+8589G>C (n.169+8589G>C) c.*124+8388G>C (n.*124+8388G>C) c.*970C>G (n.*970C>G) c.717C>G (p.Ser239Arg) c.1620C>G (p.Ser540Arg) c.-1474C>G (n.-1474C>G) c.1440C>G (p.Ser480Arg) | |
| 2 | g.47799606C>T | CA067950 | FBXO11,MSH6 | c.1326C>T (p.Ser442=) c.1623C>T (p.Ser541=) n.1707C>T c.1606+17C>T (n.1606+17C>T) c.1629C>T (p.Ser543=) c.627+3543C>T (n.627+3543C>T) c.780C>T (p.Ser260=) c.1233C>T (p.Ser411=) c.169+8589G>A (n.169+8589G>A) c.*124+8388G>A (n.*124+8388G>A) c.*970C>T (n.*970C>T) c.717C>T (p.Ser239=) c.1620C>T (p.Ser540=) c.-1474C>T (n.-1474C>T) c.1440C>T (p.Ser480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47799607C>A | CA346747087 | FBXO11,MSH6 | c.1327C>A (p.Leu443Ile) c.1624C>A (p.Leu542Ile) n.1708C>A c.1606+18C>A (n.1606+18C>A) c.1630C>A (p.Leu544Ile) c.627+3544C>A (n.627+3544C>A) c.781C>A (p.Leu261Ile) c.1234C>A (p.Leu412Ile) c.169+8588G>T (n.169+8588G>T) c.*124+8387G>T (n.*124+8387G>T) c.*971C>A (n.*971C>A) c.718C>A (p.Leu240Ile) c.1621C>A (p.Leu541Ile) c.-1473C>A (n.-1473C>A) c.1441C>A (p.Leu481Ile) | dbSNP |
| 2 | g.47799607C>G | CA346747090 | FBXO11,MSH6 | c.1327C>G (p.Leu443Val) c.1624C>G (p.Leu542Val) n.1708C>G c.1606+18C>G (n.1606+18C>G) c.1630C>G (p.Leu544Val) c.627+3544C>G (n.627+3544C>G) c.781C>G (p.Leu261Val) c.1234C>G (p.Leu412Val) c.169+8588G>C (n.169+8588G>C) c.*124+8387G>C (n.*124+8387G>C) c.*971C>G (n.*971C>G) c.718C>G (p.Leu240Val) c.1621C>G (p.Leu541Val) c.-1473C>G (n.-1473C>G) c.1441C>G (p.Leu481Val) | dbSNP |
| 2 | g.47799607C>T | CA346747093 | FBXO11,MSH6 | c.1327C>T (p.Leu443Phe) c.1624C>T (p.Leu542Phe) n.1708C>T c.1606+18C>T (n.1606+18C>T) c.1630C>T (p.Leu544Phe) c.627+3544C>T (n.627+3544C>T) c.781C>T (p.Leu261Phe) c.1234C>T (p.Leu412Phe) c.169+8588G>A (n.169+8588G>A) c.*124+8387G>A (n.*124+8387G>A) c.*971C>T (n.*971C>T) c.718C>T (p.Leu240Phe) c.1621C>T (p.Leu541Phe) c.-1473C>T (n.-1473C>T) c.1441C>T (p.Leu481Phe) | dbSNP gnomAD v4 |
| 2 | g.47799608T>A | CA346747097 | FBXO11,MSH6 | c.1328T>A (p.Leu443His) c.1625T>A (p.Leu542His) n.1709T>A c.1606+19T>A (n.1606+19T>A) c.1631T>A (p.Leu544His) c.627+3545T>A (n.627+3545T>A) c.782T>A (p.Leu261His) c.1235T>A (p.Leu412His) c.169+8587A>T (n.169+8587A>T) c.*124+8386A>T (n.*124+8386A>T) c.*972T>A (n.*972T>A) c.719T>A (p.Leu240His) c.1622T>A (p.Leu541His) c.-1472T>A (n.-1472T>A) c.1442T>A (p.Leu481His) | dbSNP |
| 2 | g.47799608T>C | CA346747098 | FBXO11,MSH6 | c.1328T>C (p.Leu443Pro) c.1625T>C (p.Leu542Pro) n.1709T>C c.1606+19T>C (n.1606+19T>C) c.1631T>C (p.Leu544Pro) c.627+3545T>C (n.627+3545T>C) c.782T>C (p.Leu261Pro) c.1235T>C (p.Leu412Pro) c.169+8587A>G (n.169+8587A>G) c.*124+8386A>G (n.*124+8386A>G) c.*972T>C (n.*972T>C) c.719T>C (p.Leu240Pro) c.1622T>C (p.Leu541Pro) c.-1472T>C (n.-1472T>C) c.1442T>C (p.Leu481Pro) | ClinVar dbSNP |
| 2 | g.47799608T>G | CA346747101 | FBXO11,MSH6 | c.1328T>G (p.Leu443Arg) c.1625T>G (p.Leu542Arg) n.1709T>G c.1606+19T>G (n.1606+19T>G) c.1631T>G (p.Leu544Arg) c.627+3545T>G (n.627+3545T>G) c.782T>G (p.Leu261Arg) c.1235T>G (p.Leu412Arg) c.169+8587A>C (n.169+8587A>C) c.*124+8386A>C (n.*124+8386A>C) c.*972T>G (n.*972T>G) c.719T>G (p.Leu240Arg) c.1622T>G (p.Leu541Arg) c.-1472T>G (n.-1472T>G) c.1442T>G (p.Leu481Arg) | |
| 2 | g.47799608T= | CA2496048846 | FBXO11,MSH6 | c.1328T= (p.Leu443=) c.1625T= (p.Leu542=) n.1709T= c.1606+19T= (n.1606+19T=) c.1631T= (p.Leu544=) c.627+3545T= (n.627+3545T=) c.782T= (p.Leu261=) c.1235T= (p.Leu412=) c.169+8587A= (n.169+8587A=) c.*124+8386A= (n.*124+8386A=) c.*972T= (n.*972T=) c.719T= (p.Leu240=) c.1622T= (p.Leu541=) c.-1472T= (n.-1472T=) c.1442T= (p.Leu481=) | |
| 2 | g.47799609del | CA2499216104 | FBXO11,MSH6 | c.1329del (p.Glu445LysfsTer27) c.1626del (p.Glu544LysfsTer27) n.1710del c.1606+20del (n.1606+20del) c.1632del (p.Glu546LysfsTer27) c.627+3546del (n.627+3546del) c.783del (p.Glu263LysfsTer27) c.1236del (p.Glu414LysfsTer27) c.169+8586del (n.169+8586del) c.*124+8385del (n.*124+8385del) c.*973del (n.*973del) c.720del (p.Glu242LysfsTer27) c.1623del (p.Glu543LysfsTer27) c.-1471del (n.-1471del) c.1443del (p.Glu483LysfsTer27) | ClinVar dbSNP |
| 2 | g.47799609C>A | CA426121433 | FBXO11,MSH6 | c.1329C>A (p.Leu443=) c.1626C>A (p.Leu542=) n.1710C>A c.1606+20C>A (n.1606+20C>A) c.1632C>A (p.Leu544=) c.627+3546C>A (n.627+3546C>A) c.783C>A (p.Leu261=) c.1236C>A (p.Leu412=) c.169+8586G>T (n.169+8586G>T) c.*124+8385G>T (n.*124+8385G>T) c.*973C>A (n.*973C>A) c.720C>A (p.Leu240=) c.1623C>A (p.Leu541=) c.-1471C>A (n.-1471C>A) c.1443C>A (p.Leu481=) | ClinVar |
| 2 | g.47799609C>G | CA426121434 | FBXO11,MSH6 | c.1329C>G (p.Leu443=) c.1626C>G (p.Leu542=) n.1710C>G c.1606+20C>G (n.1606+20C>G) c.1632C>G (p.Leu544=) c.627+3546C>G (n.627+3546C>G) c.783C>G (p.Leu261=) c.1236C>G (p.Leu412=) c.169+8586G>C (n.169+8586G>C) c.*124+8385G>C (n.*124+8385G>C) c.*973C>G (n.*973C>G) c.720C>G (p.Leu240=) c.1623C>G (p.Leu541=) c.-1471C>G (n.-1471C>G) c.1443C>G (p.Leu481=) | ClinVar dbSNP |
| 2 | g.47799609C>T | CA426121435 | FBXO11,MSH6 | c.1329C>T (p.Leu443=) c.1626C>T (p.Leu542=) n.1710C>T c.1606+20C>T (n.1606+20C>T) c.1632C>T (p.Leu544=) c.627+3546C>T (n.627+3546C>T) c.783C>T (p.Leu261=) c.1236C>T (p.Leu412=) c.169+8586G>A (n.169+8586G>A) c.*124+8385G>A (n.*124+8385G>A) c.*973C>T (n.*973C>T) c.720C>T (p.Leu240=) c.1623C>T (p.Leu541=) c.-1471C>T (n.-1471C>T) c.1443C>T (p.Leu481=) | ClinVar gnomAD v4 |
| 2 | g.47799609_47799611delinsCAA | CA2496048847 | FBXO11,MSH6 | c.1329_1331delinsCAA (p.Leu443=) c.1626_1628delinsCAA (p.Leu542=) n.1710_1712delinsCAA c.1606+20_1606+22delinsCAA (n.1606+20_1606+22delinsCAA) c.1632_1634delinsCAA (p.Leu544=) c.627+3546_627+3548delinsCAA (n.627+3546_627+3548delinsCAA) c.783_785delinsCAA (p.Leu261=) c.1236_1238delinsCAA (p.Leu412=) c.169+8584_169+8586delinsTTG (n.169+8584_169+8586delinsTTG) c.*124+8383_*124+8385delinsTTG (n.*124+8383_*124+8385delinsTTG) c.*973_*975delinsCAA (n.*973_*975delinsCAA) c.720_722delinsCAA (p.Leu240=) c.1623_1625delinsCAA (p.Leu541=) c.-1471_-1469delinsCAA (n.-1471_-1469delinsCAA) c.1443_1445delinsCAA (p.Leu481=) | |
| 2 | g.47799609_47799612delinsCAAA | CA2496048849 | FBXO11,MSH6 | c.1329_1332delinsCAAA (p.Leu443=) c.1626_1629delinsCAAA (p.Leu542=) n.1710_1713delinsCAAA c.1606+20_1606+23delinsCAAA (n.1606+20_1606+23delinsCAAA) c.1632_1635delinsCAAA (p.Leu544=) c.627+3546_627+3549delinsCAAA (n.627+3546_627+3549delinsCAAA) c.783_786delinsCAAA (p.Leu261=) c.1236_1239delinsCAAA (p.Leu412=) c.169+8583_169+8586delinsTTTG (n.169+8583_169+8586delinsTTTG) c.*124+8382_*124+8385delinsTTTG (n.*124+8382_*124+8385delinsTTTG) c.*973_*976delinsCAAA (n.*973_*976delinsCAAA) c.720_723delinsCAAA (p.Leu240=) c.1623_1626delinsCAAA (p.Leu541=) c.-1471_-1468delinsCAAA (n.-1471_-1468delinsCAAA) c.1443_1446delinsCAAA (p.Leu481=) | |
| 2 | g.47799609_47799613delinsCAAAG | CA2496048850 | FBXO11,MSH6 | c.1329_1333delinsCAAAG (p.Leu443=) c.1626_1630delinsCAAAG (p.Leu542=) n.1710_1714delinsCAAAG c.1606+20_1606+24delinsCAAAG (n.1606+20_1606+24delinsCAAAG) c.1632_1636delinsCAAAG (p.Leu544=) c.627+3546_627+3550delinsCAAAG (n.627+3546_627+3550delinsCAAAG) c.783_787delinsCAAAG (p.Leu261=) c.1236_1240delinsCAAAG (p.Leu412=) c.169+8582_169+8586delinsCTTTG (n.169+8582_169+8586delinsCTTTG) c.*124+8381_*124+8385delinsCTTTG (n.*124+8381_*124+8385delinsCTTTG) c.*973_*977delinsCAAAG (n.*973_*977delinsCAAAG) c.720_724delinsCAAAG (p.Leu240=) c.1623_1627delinsCAAAG (p.Leu541=) c.-1471_-1467delinsCAAAG (n.-1471_-1467delinsCAAAG) c.1443_1447delinsCAAAG (p.Leu481=) | |
| 2 | g.47799609_47799615delinsCAAAGAA | CA2496048848 | FBXO11,MSH6 | c.1329_1335delinsCAAAGAA (p.Leu443=) c.1626_1632delinsCAAAGAA (p.Leu542=) n.1710_1716delinsCAAAGAA c.1606+20_1606+26delinsCAAAGAA (n.1606+20_1606+26delinsCAAAGAA) c.1632_1638delinsCAAAGAA (p.Leu544=) c.627+3546_627+3552delinsCAAAGAA (n.627+3546_627+3552delinsCAAAGAA) c.783_789delinsCAAAGAA (p.Leu261=) c.1236_1242delinsCAAAGAA (p.Leu412=) c.169+8580_169+8586delinsTTCTTTG (n.169+8580_169+8586delinsTTCTTTG) c.*124+8379_*124+8385delinsTTCTTTG (n.*124+8379_*124+8385delinsTTCTTTG) c.*973_*979delinsCAAAGAA (n.*973_*979delinsCAAAGAA) c.720_726delinsCAAAGAA (p.Leu240=) c.1623_1629delinsCAAAGAA (p.Leu541=) c.-1471_-1465delinsCAAAGAA (n.-1471_-1465delinsCAAAGAA) c.1443_1449delinsCAAAGAA (p.Leu481=) | |
| 2 | g.47799610A= | CA2496048851 | FBXO11,MSH6 | c.1330A= (p.Lys444=) c.1627A= (p.Lys543=) n.1711A= c.1606+21A= (n.1606+21A=) c.1633A= (p.Lys545=) c.627+3547A= (n.627+3547A=) c.784A= (p.Lys262=) c.1237A= (p.Lys413=) c.169+8585T= (n.169+8585T=) c.*124+8384T= (n.*124+8384T=) c.*974A= (n.*974A=) c.721A= (p.Lys241=) c.1624A= (p.Lys542=) c.-1470A= (n.-1470A=) c.1444A= (p.Lys482=) | |
| 2 | g.47799610A>C | CA346747105 | FBXO11,MSH6 | c.1330A>C (p.Lys444Gln) c.1627A>C (p.Lys543Gln) n.1711A>C c.1606+21A>C (n.1606+21A>C) c.1633A>C (p.Lys545Gln) c.627+3547A>C (n.627+3547A>C) c.784A>C (p.Lys262Gln) c.1237A>C (p.Lys413Gln) c.169+8585T>G (n.169+8585T>G) c.*124+8384T>G (n.*124+8384T>G) c.*974A>C (n.*974A>C) c.721A>C (p.Lys241Gln) c.1624A>C (p.Lys542Gln) c.-1470A>C (n.-1470A>C) c.1444A>C (p.Lys482Gln) | |
| 2 | g.47799610A>G | CA346747107 | FBXO11,MSH6 | c.1330A>G (p.Lys444Glu) c.1627A>G (p.Lys543Glu) n.1711A>G c.1606+21A>G (n.1606+21A>G) c.1633A>G (p.Lys545Glu) c.627+3547A>G (n.627+3547A>G) c.784A>G (p.Lys262Glu) c.1237A>G (p.Lys413Glu) c.169+8585T>C (n.169+8585T>C) c.*124+8384T>C (n.*124+8384T>C) c.*974A>G (n.*974A>G) c.721A>G (p.Lys241Glu) c.1624A>G (p.Lys542Glu) c.-1470A>G (n.-1470A>G) c.1444A>G (p.Lys482Glu) | ClinVar dbSNP |
| 2 | g.47799610A>T | CA346747112 | FBXO11,MSH6 | c.1330A>T (p.Lys444Ter) c.1627A>T (p.Lys543Ter) n.1711A>T c.1606+21A>T (n.1606+21A>T) c.1633A>T (p.Lys545Ter) c.627+3547A>T (n.627+3547A>T) c.784A>T (p.Lys262Ter) c.1237A>T (p.Lys413Ter) c.169+8585T>A (n.169+8585T>A) c.*124+8384T>A (n.*124+8384T>A) c.*974A>T (n.*974A>T) c.721A>T (p.Lys241Ter) c.1624A>T (p.Lys542Ter) c.-1470A>T (n.-1470A>T) c.1444A>T (p.Lys482Ter) | ClinVar |
| 2 | g.47799610_47799612del | CA915943918 | FBXO11,MSH6 | c.1330_1332del (p.Lys444del) c.1627_1629del (p.Lys543del) n.1711_1713del c.1606+21_1606+23del (n.1606+21_1606+23del) c.1633_1635del (p.Lys545del) c.627+3547_627+3549del (n.627+3547_627+3549del) c.784_786del (p.Lys262del) c.1237_1239del (p.Lys413del) c.169+8583_169+8585del (n.169+8583_169+8585del) c.*124+8382_*124+8384del (n.*124+8382_*124+8384del) c.*974_*976del (n.*974_*976del) c.721_723del (p.Lys241del) c.1624_1626del (p.Lys542del) c.-1470_-1468del (n.-1470_-1468del) c.1444_1446del (p.Lys482del) | ClinVar dbSNP |
| 2 | g.47799611_47799612dup | CA2697548142 | FBXO11,MSH6 | c.1331_1332dup (p.Glu445LysfsTer28) c.1628_1629dup (p.Glu544LysfsTer28) n.1712_1713dup c.1606+22_1606+23dup (n.1606+22_1606+23dup) c.1634_1635dup (p.Glu546LysfsTer28) c.627+3548_627+3549dup (n.627+3548_627+3549dup) c.785_786dup (p.Glu263LysfsTer28) c.1238_1239dup (p.Glu414LysfsTer28) c.169+8584_169+8585dup (n.169+8584_169+8585dup) c.*124+8383_*124+8384dup (n.*124+8383_*124+8384dup) c.*975_*976dup (n.*975_*976dup) c.722_723dup (p.Glu242LysfsTer28) c.1625_1626dup (p.Glu543LysfsTer28) c.-1469_-1468dup (n.-1469_-1468dup) c.1445_1446dup (p.Glu483LysfsTer28) | ClinVar |
| 2 | g.47799611_47799612del | CA008935 | FBXO11,MSH6 | c.1331_1332del (p.Lys444ArgfsTer19) c.1628_1629del (p.Lys543ArgfsTer19) n.1712_1713del c.1606+22_1606+23del (n.1606+22_1606+23del) c.1634_1635del (p.Lys545ArgfsTer19) c.627+3548_627+3549del (n.627+3548_627+3549del) c.785_786del (p.Lys262ArgfsTer19) c.1238_1239del (p.Lys413ArgfsTer19) c.169+8584_169+8585del (n.169+8584_169+8585del) c.*124+8383_*124+8384del (n.*124+8383_*124+8384del) c.*975_*976del (n.*975_*976del) c.722_723del (p.Lys241ArgfsTer19) c.1625_1626del (p.Lys542ArgfsTer19) c.-1469_-1468del (n.-1469_-1468del) c.1445_1446del (p.Lys482ArgfsTer19) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47799613_47799616del | CA915943919 | FBXO11,MSH6 | c.1333_1336del (p.Glu445LysfsTer26) c.1630_1633del (p.Glu544LysfsTer26) n.1714_1717del c.1606+24_1606+27del (n.1606+24_1606+27del) c.1636_1639del (p.Glu546LysfsTer26) c.627+3550_627+3553del (n.627+3550_627+3553del) c.787_790del (p.Glu263LysfsTer26) c.1240_1243del (p.Glu414LysfsTer26) c.169+8582_169+8585del (n.169+8582_169+8585del) c.*124+8381_*124+8384del (n.*124+8381_*124+8384del) c.*977_*980del (n.*977_*980del) c.724_727del (p.Glu242LysfsTer26) c.1627_1630del (p.Glu543LysfsTer26) c.-1467_-1464del (n.-1467_-1464del) c.1447_1450del (p.Glu483LysfsTer26) | ClinVar dbSNP |
| 2 | g.47799615_47799620del | CA46708504 | FBXO11,MSH6 | c.1335_1340del (p.Lys446_Glu447del) c.1632_1637del (p.Lys545_Glu546del) n.1716_1721del c.1606+26_1606+31del (n.1606+26_1606+31del) c.1638_1643del (p.Lys547_Glu548del) c.627+3552_627+3557del (n.627+3552_627+3557del) c.789_794del (p.Lys264_Glu265del) c.1242_1247del (p.Lys415_Glu416del) c.169+8580_169+8585del (n.169+8580_169+8585del) c.*124+8379_*124+8384del (n.*124+8379_*124+8384del) c.*979_*984del (n.*979_*984del) c.726_731del (p.Lys243_Glu244del) c.1629_1634del (p.Lys544_Glu545del) c.-1465_-1460del (n.-1465_-1460del) c.1449_1454del (p.Lys484_Glu485del) | ClinVar dbSNP |
| 2 | g.47799611A= | CA2496048852 | FBXO11,MSH6 | c.1331A= (p.Lys444=) c.1628A= (p.Lys543=) n.1712A= c.1606+22A= (n.1606+22A=) c.1634A= (p.Lys545=) c.627+3548A= (n.627+3548A=) c.785A= (p.Lys262=) c.1238A= (p.Lys413=) c.169+8584T= (n.169+8584T=) c.*124+8383T= (n.*124+8383T=) c.*975A= (n.*975A=) c.722A= (p.Lys241=) c.1625A= (p.Lys542=) c.-1469A= (n.-1469A=) c.1445A= (p.Lys482=) | |
| 2 | g.47799611A>C | CA346747117 | FBXO11,MSH6 | c.1331A>C (p.Lys444Thr) c.1628A>C (p.Lys543Thr) n.1712A>C c.1606+22A>C (n.1606+22A>C) c.1634A>C (p.Lys545Thr) c.627+3548A>C (n.627+3548A>C) c.785A>C (p.Lys262Thr) c.1238A>C (p.Lys413Thr) c.169+8584T>G (n.169+8584T>G) c.*124+8383T>G (n.*124+8383T>G) c.*975A>C (n.*975A>C) c.722A>C (p.Lys241Thr) c.1625A>C (p.Lys542Thr) c.-1469A>C (n.-1469A>C) c.1445A>C (p.Lys482Thr) | ClinVar dbSNP |
| 2 | g.47799611A>G | CA346747119 | FBXO11,MSH6 | c.1331A>G (p.Lys444Arg) c.1628A>G (p.Lys543Arg) n.1712A>G c.1606+22A>G (n.1606+22A>G) c.1634A>G (p.Lys545Arg) c.627+3548A>G (n.627+3548A>G) c.785A>G (p.Lys262Arg) c.1238A>G (p.Lys413Arg) c.169+8584T>C (n.169+8584T>C) c.*124+8383T>C (n.*124+8383T>C) c.*975A>G (n.*975A>G) c.722A>G (p.Lys241Arg) c.1625A>G (p.Lys542Arg) c.-1469A>G (n.-1469A>G) c.1445A>G (p.Lys482Arg) | ClinVar dbSNP COSMIC |
| 2 | g.47799611A>T | CA346747122 | FBXO11,MSH6 | c.1331A>T (p.Lys444Ile) c.1628A>T (p.Lys543Ile) n.1712A>T c.1606+22A>T (n.1606+22A>T) c.1634A>T (p.Lys545Ile) c.627+3548A>T (n.627+3548A>T) c.785A>T (p.Lys262Ile) c.1238A>T (p.Lys413Ile) c.169+8584T>A (n.169+8584T>A) c.*124+8383T>A (n.*124+8383T>A) c.*975A>T (n.*975A>T) c.722A>T (p.Lys241Ile) c.1625A>T (p.Lys542Ile) c.-1469A>T (n.-1469A>T) c.1445A>T (p.Lys482Ile) | dbSNP |
| 2 | g.47799612A= | CA2496048853 | FBXO11,MSH6 | c.1332A= (p.Lys444=) c.1629A= (p.Lys543=) n.1713A= c.1606+23A= (n.1606+23A=) c.1635A= (p.Lys545=) c.627+3549A= (n.627+3549A=) c.786A= (p.Lys262=) c.1239A= (p.Lys413=) c.169+8583T= (n.169+8583T=) c.*124+8382T= (n.*124+8382T=) c.*976A= (n.*976A=) c.723A= (p.Lys241=) c.1626A= (p.Lys542=) c.-1468A= (n.-1468A=) c.1446A= (p.Lys482=) | |
| 2 | g.47799612A>C | CA346747129 | FBXO11,MSH6 | c.1332A>C (p.Lys444Asn) c.1629A>C (p.Lys543Asn) n.1713A>C c.1606+23A>C (n.1606+23A>C) c.1635A>C (p.Lys545Asn) c.627+3549A>C (n.627+3549A>C) c.786A>C (p.Lys262Asn) c.1239A>C (p.Lys413Asn) c.169+8583T>G (n.169+8583T>G) c.*124+8382T>G (n.*124+8382T>G) c.*976A>C (n.*976A>C) c.723A>C (p.Lys241Asn) c.1626A>C (p.Lys542Asn) c.-1468A>C (n.-1468A>C) c.1446A>C (p.Lys482Asn) | |
| 2 | g.47799612A>G | CA426121437 | FBXO11,MSH6 | c.1332A>G (p.Lys444=) c.1629A>G (p.Lys543=) n.1713A>G c.1606+23A>G (n.1606+23A>G) c.1635A>G (p.Lys545=) c.627+3549A>G (n.627+3549A>G) c.786A>G (p.Lys262=) c.1239A>G (p.Lys413=) c.169+8583T>C (n.169+8583T>C) c.*124+8382T>C (n.*124+8382T>C) c.*976A>G (n.*976A>G) c.723A>G (p.Lys241=) c.1626A>G (p.Lys542=) c.-1468A>G (n.-1468A>G) c.1446A>G (p.Lys482=) | dbSNP COSMIC |
| 2 | g.47799612A>T | CA346747125 | FBXO11,MSH6 | c.1332A>T (p.Lys444Asn) c.1629A>T (p.Lys543Asn) n.1713A>T c.1606+23A>T (n.1606+23A>T) c.1635A>T (p.Lys545Asn) c.627+3549A>T (n.627+3549A>T) c.786A>T (p.Lys262Asn) c.1239A>T (p.Lys413Asn) c.169+8583T>A (n.169+8583T>A) c.*124+8382T>A (n.*124+8382T>A) c.*976A>T (n.*976A>T) c.723A>T (p.Lys241Asn) c.1626A>T (p.Lys542Asn) c.-1468A>T (n.-1468A>T) c.1446A>T (p.Lys482Asn) | dbSNP |
| 2 | g.47799613del | CA2586969261 | FBXO11,MSH6 | c.1333del (p.Glu445LysfsTer27) c.1630del (p.Glu544LysfsTer27) n.1714del c.1606+24del (n.1606+24del) c.1636del (p.Glu546LysfsTer27) c.627+3550del (n.627+3550del) c.787del (p.Glu263LysfsTer27) c.1240del (p.Glu414LysfsTer27) c.169+8582del (n.169+8582del) c.*124+8381del (n.*124+8381del) c.*977del (n.*977del) c.724del (p.Glu242LysfsTer27) c.1627del (p.Glu543LysfsTer27) c.-1467del (n.-1467del) c.1447del (p.Glu483LysfsTer27) | gnomAD v4 |
| 2 | g.47799613G>A | CA346747131 | FBXO11,MSH6 | c.1333G>A (p.Glu445Lys) c.1630G>A (p.Glu544Lys) n.1714G>A c.1606+24G>A (n.1606+24G>A) c.1636G>A (p.Glu546Lys) c.627+3550G>A (n.627+3550G>A) c.787G>A (p.Glu263Lys) c.1240G>A (p.Glu414Lys) c.169+8582C>T (n.169+8582C>T) c.*124+8381C>T (n.*124+8381C>T) c.*977G>A (n.*977G>A) c.724G>A (p.Glu242Lys) c.1627G>A (p.Glu543Lys) c.-1467G>A (n.-1467G>A) c.1447G>A (p.Glu483Lys) | dbSNP |
| 2 | g.47799613G>C | CA346747140 | FBXO11,MSH6 | c.1333G>C (p.Glu445Gln) c.1630G>C (p.Glu544Gln) n.1714G>C c.1606+24G>C (n.1606+24G>C) c.1636G>C (p.Glu546Gln) c.627+3550G>C (n.627+3550G>C) c.787G>C (p.Glu263Gln) c.1240G>C (p.Glu414Gln) c.169+8582C>G (n.169+8582C>G) c.*124+8381C>G (n.*124+8381C>G) c.*977G>C (n.*977G>C) c.724G>C (p.Glu242Gln) c.1627G>C (p.Glu543Gln) c.-1467G>C (n.-1467G>C) c.1447G>C (p.Glu483Gln) | |
| 2 | g.47799613G>T | CA346747144 | FBXO11,MSH6 | c.1333G>T (p.Glu445Ter) c.1630G>T (p.Glu544Ter) n.1714G>T c.1606+24G>T (n.1606+24G>T) c.1636G>T (p.Glu546Ter) c.627+3550G>T (n.627+3550G>T) c.787G>T (p.Glu263Ter) c.1240G>T (p.Glu414Ter) c.169+8582C>A (n.169+8582C>A) c.*124+8381C>A (n.*124+8381C>A) c.*977G>T (n.*977G>T) c.724G>T (p.Glu242Ter) c.1627G>T (p.Glu543Ter) c.-1467G>T (n.-1467G>T) c.1447G>T (p.Glu483Ter) | ClinVar |
| 2 | g.47799613dup | CA916079928 | FBXO11,MSH6 | c.1333dup (p.Glu445GlyfsTer19) c.1630dup (p.Glu544GlyfsTer19) n.1714dup c.1606+24dup (n.1606+24dup) c.1636dup (p.Glu546GlyfsTer19) c.627+3550dup (n.627+3550dup) c.787dup (p.Glu263GlyfsTer19) c.1240dup (p.Glu414GlyfsTer19) c.169+8582dup (n.169+8582dup) c.*124+8381dup (n.*124+8381dup) c.*977dup (n.*977dup) c.724dup (p.Glu242GlyfsTer19) c.1627dup (p.Glu543GlyfsTer19) c.-1467dup (n.-1467dup) c.1447dup (p.Glu483GlyfsTer19) | ClinVar dbSNP |
| 2 | g.47799613_47799617delinsGAAAA | CA2496048854 | FBXO11,MSH6 | c.1333_1337delinsGAAAA (p.Glu445=) c.1630_1634delinsGAAAA (p.Glu544=) n.1714_1718delinsGAAAA c.1606+24_1606+28delinsGAAAA (n.1606+24_1606+28delinsGAAAA) c.1636_1640delinsGAAAA (p.Glu546=) c.627+3550_627+3554delinsGAAAA (n.627+3550_627+3554delinsGAAAA) c.787_791delinsGAAAA (p.Glu263=) c.1240_1244delinsGAAAA (p.Glu414=) c.169+8578_169+8582delinsTTTTC (n.169+8578_169+8582delinsTTTTC) c.*124+8377_*124+8381delinsTTTTC (n.*124+8377_*124+8381delinsTTTTC) c.*977_*981delinsGAAAA (n.*977_*981delinsGAAAA) c.724_728delinsGAAAA (p.Glu242=) c.1627_1631delinsGAAAA (p.Glu543=) c.-1467_-1463delinsGAAAA (n.-1467_-1463delinsGAAAA) c.1447_1451delinsGAAAA (p.Glu483=) | |
| 2 | g.47799614A= | CA2496048855 | FBXO11,MSH6 | c.1334A= (p.Glu445=) c.1631A= (p.Glu544=) n.1715A= c.1606+25A= (n.1606+25A=) c.1637A= (p.Glu546=) c.627+3551A= (n.627+3551A=) c.788A= (p.Glu263=) c.1241A= (p.Glu414=) c.169+8581T= (n.169+8581T=) c.*124+8380T= (n.*124+8380T=) c.*978A= (n.*978A=) c.725A= (p.Glu242=) c.1628A= (p.Glu543=) c.-1466A= (n.-1466A=) c.1448A= (p.Glu483=) | |
| 2 | g.47799614A>C | CA346747149 | FBXO11,MSH6 | c.1334A>C (p.Glu445Ala) c.1631A>C (p.Glu544Ala) n.1715A>C c.1606+25A>C (n.1606+25A>C) c.1637A>C (p.Glu546Ala) c.627+3551A>C (n.627+3551A>C) c.788A>C (p.Glu263Ala) c.1241A>C (p.Glu414Ala) c.169+8581T>G (n.169+8581T>G) c.*124+8380T>G (n.*124+8380T>G) c.*978A>C (n.*978A>C) c.725A>C (p.Glu242Ala) c.1628A>C (p.Glu543Ala) c.-1466A>C (n.-1466A>C) c.1448A>C (p.Glu483Ala) | |
| 2 | g.47799614A>G | CA346747152 | FBXO11,MSH6 | c.1334A>G (p.Glu445Gly) c.1631A>G (p.Glu544Gly) n.1715A>G c.1606+25A>G (n.1606+25A>G) c.1637A>G (p.Glu546Gly) c.627+3551A>G (n.627+3551A>G) c.788A>G (p.Glu263Gly) c.1241A>G (p.Glu414Gly) c.169+8581T>C (n.169+8581T>C) c.*124+8380T>C (n.*124+8380T>C) c.*978A>G (n.*978A>G) c.725A>G (p.Glu242Gly) c.1628A>G (p.Glu543Gly) c.-1466A>G (n.-1466A>G) c.1448A>G (p.Glu483Gly) | dbSNP COSMIC |
| 2 | g.47799614A>T | CA346747155 | FBXO11,MSH6 | c.1334A>T (p.Glu445Val) c.1631A>T (p.Glu544Val) n.1715A>T c.1606+25A>T (n.1606+25A>T) c.1637A>T (p.Glu546Val) c.627+3551A>T (n.627+3551A>T) c.788A>T (p.Glu263Val) c.1241A>T (p.Glu414Val) c.169+8581T>A (n.169+8581T>A) c.*124+8380T>A (n.*124+8380T>A) c.*978A>T (n.*978A>T) c.725A>T (p.Glu242Val) c.1628A>T (p.Glu543Val) c.-1466A>T (n.-1466A>T) c.1448A>T (p.Glu483Val) | ClinVar dbSNP |
| 2 | g.47799618del | CA2580067660 | FBXO11,MSH6 | c.1338del (p.Glu447ArgfsTer25) c.1635del (p.Glu546ArgfsTer25) n.1719del c.1606+29del (n.1606+29del) c.1641del (p.Glu548ArgfsTer25) c.627+3555del (n.627+3555del) c.792del (p.Glu265ArgfsTer25) c.1245del (p.Glu416ArgfsTer25) c.169+8581del (n.169+8581del) c.*124+8380del (n.*124+8380del) c.*982del (n.*982del) c.729del (p.Glu244ArgfsTer25) c.1632del (p.Glu545ArgfsTer25) c.-1462del (n.-1462del) c.1452del (p.Glu485ArgfsTer25) | ClinVar |