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.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.47799955_47804552del | CA1139655753 | FBXO11,MSH6 | c.1675_3142-358del c.1972_3173-1066del n.2056_3523-358del c.1606+366_1873-358del c.1978_3445-358del c.628-3465_894-358del c.1129_2330-1066del c.1972_3439-358del c.1582_3049-358del c.169+3644_169+8241del (n.169+3644_169+8241del) c.*124+3443_*124+8040del (n.*124+3443_*124+8040del) c.*1319_*2786-358del c.1066_2533-358del c.-1125_335-350del c.1789_3256-358del | ClinVar |
| 2 | g.47800853_47800855delinsAAC | CA2496049907 | FBXO11,MSH6 | c.2573_2575delinsAAC (p.Lys858=) c.2870_2872delinsAAC (p.Lys957=) n.2954_2956delinsAAC c.1606+1264_1606+1266delinsAAC (n.1606+1264_1606+1266delinsAAC) c.2876_2878delinsAAC (p.Lys959=) c.628-2567_628-2565delinsAAC (n.628-2567_628-2565delinsAAC) c.2027_2029delinsAAC (p.Lys676=) c.2480_2482delinsAAC (p.Lys827=) c.169+7340_169+7342delinsGTT (n.169+7340_169+7342delinsGTT) c.*124+7139_*124+7141delinsGTT (n.*124+7139_*124+7141delinsGTT) c.*2217_*2219delinsAAC (n.*2217_*2219delinsAAC) c.1964_1966delinsAAC (p.Lys655=) c.2867_2869delinsAAC (p.Lys956=) c.-227_-225delinsAAC (n.-227_-225delinsAAC) c.2687_2689delinsAAC (p.Lys896=) | |
| 2 | g.47800853_47800855delinsGAA | CA1139655910 | FBXO11,MSH6 | c.2573_2575delinsGAA (p.Lys858_Gln859delinsArgLys) c.2870_2872delinsGAA (p.Lys957_Gln958delinsArgLys) n.2954_2956delinsGAA c.1606+1264_1606+1266delinsGAA (n.1606+1264_1606+1266delinsGAA) c.2876_2878delinsGAA (p.Lys959_Gln960delinsArgLys) c.628-2567_628-2565delinsGAA (n.628-2567_628-2565delinsGAA) c.2027_2029delinsGAA (p.Lys676_Gln677delinsArgLys) c.2480_2482delinsGAA (p.Lys827_Gln828delinsArgLys) c.169+7340_169+7342delinsTTC (n.169+7340_169+7342delinsTTC) c.*124+7139_*124+7141delinsTTC (n.*124+7139_*124+7141delinsTTC) c.*2217_*2219delinsGAA (n.*2217_*2219delinsGAA) c.1964_1966delinsGAA (p.Lys655_Gln656delinsArgLys) c.2867_2869delinsGAA (p.Lys956_Gln957delinsArgLys) c.-227_-225delinsGAA (n.-227_-225delinsGAA) c.2687_2689delinsGAA (p.Lys896_Gln897delinsArgLys) | ClinVar dbSNP |
| 2 | g.47800854A= | CA2496049908 | FBXO11,MSH6 | c.2574A= (p.Lys858=) c.2871A= (p.Lys957=) n.2955A= c.1606+1265A= (n.1606+1265A=) c.2877A= (p.Lys959=) c.628-2566A= (n.628-2566A=) c.2028A= (p.Lys676=) c.2481A= (p.Lys827=) c.169+7341T= (n.169+7341T=) c.*124+7140T= (n.*124+7140T=) c.*2218A= (n.*2218A=) c.1965A= (p.Lys655=) c.2868A= (p.Lys956=) c.-226A= (n.-226A=) c.2688A= (p.Lys896=) | |
| 2 | g.47800854A>C | CA346755985 | FBXO11,MSH6 | c.2574A>C (p.Lys858Asn) c.2871A>C (p.Lys957Asn) n.2955A>C c.1606+1265A>C (n.1606+1265A>C) c.2877A>C (p.Lys959Asn) c.628-2566A>C (n.628-2566A>C) c.2028A>C (p.Lys676Asn) c.2481A>C (p.Lys827Asn) c.169+7341T>G (n.169+7341T>G) c.*124+7140T>G (n.*124+7140T>G) c.*2218A>C (n.*2218A>C) c.1965A>C (p.Lys655Asn) c.2868A>C (p.Lys956Asn) c.-226A>C (n.-226A>C) c.2688A>C (p.Lys896Asn) | dbSNP |
| 2 | g.47800854A>G | CA069726 | FBXO11,MSH6 | c.2574A>G (p.Lys858=) c.2871A>G (p.Lys957=) n.2955A>G c.1606+1265A>G (n.1606+1265A>G) c.2877A>G (p.Lys959=) c.628-2566A>G (n.628-2566A>G) c.2028A>G (p.Lys676=) c.2481A>G (p.Lys827=) c.169+7341T>C (n.169+7341T>C) c.*124+7140T>C (n.*124+7140T>C) c.*2218A>G (n.*2218A>G) c.1965A>G (p.Lys655=) c.2868A>G (p.Lys956=) c.-226A>G (n.-226A>G) c.2688A>G (p.Lys896=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47800854A>T | CA346755986 | FBXO11,MSH6 | c.2574A>T (p.Lys858Asn) c.2871A>T (p.Lys957Asn) n.2955A>T c.1606+1265A>T (n.1606+1265A>T) c.2877A>T (p.Lys959Asn) c.628-2566A>T (n.628-2566A>T) c.2028A>T (p.Lys676Asn) c.2481A>T (p.Lys827Asn) c.169+7341T>A (n.169+7341T>A) c.*124+7140T>A (n.*124+7140T>A) c.*2218A>T (n.*2218A>T) c.1965A>T (p.Lys655Asn) c.2868A>T (p.Lys956Asn) c.-226A>T (n.-226A>T) c.2688A>T (p.Lys896Asn) | ClinVar dbSNP |
| 2 | g.47800855_47800856dup | CA2695200589 | FBXO11,MSH6 | c.2575_2576dup (p.Gln859HisfsTer11) c.2872_2873dup (p.Gln958HisfsTer11) n.2956_2957dup c.1606+1266_1606+1267dup (n.1606+1266_1606+1267dup) c.2878_2879dup (p.Gln960HisfsTer11) c.628-2565_628-2564dup (n.628-2565_628-2564dup) c.2029_2030dup (p.Gln677HisfsTer11) c.2482_2483dup (p.Gln828HisfsTer11) c.169+7340_169+7341dup (n.169+7340_169+7341dup) c.*124+7139_*124+7140dup (n.*124+7139_*124+7140dup) c.*2219_*2220dup (n.*2219_*2220dup) c.1966_1967dup (p.Gln656HisfsTer11) c.2869_2870dup (p.Gln957HisfsTer11) c.-225_-224dup (n.-225_-224dup) c.2689_2690dup (p.Gln897HisfsTer11) | ClinVar |
| 2 | g.47800855C>A | CA346755988 | FBXO11,MSH6 | c.2575C>A (p.Gln859Lys) c.2872C>A (p.Gln958Lys) n.2956C>A c.1606+1266C>A (n.1606+1266C>A) c.2878C>A (p.Gln960Lys) c.628-2565C>A (n.628-2565C>A) c.2029C>A (p.Gln677Lys) c.2482C>A (p.Gln828Lys) c.169+7340G>T (n.169+7340G>T) c.*124+7139G>T (n.*124+7139G>T) c.*2219C>A (n.*2219C>A) c.1966C>A (p.Gln656Lys) c.2869C>A (p.Gln957Lys) c.-225C>A (n.-225C>A) c.2689C>A (p.Gln897Lys) | dbSNP |
| 2 | g.47800855C= | CA2496049911 | FBXO11,MSH6 | c.2575C= (p.Gln859=) c.2872C= (p.Gln958=) n.2956C= c.1606+1266C= (n.1606+1266C=) c.2878C= (p.Gln960=) c.628-2565C= (n.628-2565C=) c.2029C= (p.Gln677=) c.2482C= (p.Gln828=) c.169+7340G= (n.169+7340G=) c.*124+7139G= (n.*124+7139G=) c.*2219C= (n.*2219C=) c.1966C= (p.Gln656=) c.2869C= (p.Gln957=) c.-225C= (n.-225C=) c.2689C= (p.Gln897=) | |
| 2 | g.47800855C>G | CA346755990 | FBXO11,MSH6 | c.2575C>G (p.Gln859Glu) c.2872C>G (p.Gln958Glu) n.2956C>G c.1606+1266C>G (n.1606+1266C>G) c.2878C>G (p.Gln960Glu) c.628-2565C>G (n.628-2565C>G) c.2029C>G (p.Gln677Glu) c.2482C>G (p.Gln828Glu) c.169+7340G>C (n.169+7340G>C) c.*124+7139G>C (n.*124+7139G>C) c.*2219C>G (n.*2219C>G) c.1966C>G (p.Gln656Glu) c.2869C>G (p.Gln957Glu) c.-225C>G (n.-225C>G) c.2689C>G (p.Gln897Glu) | ClinVar dbSNP |
| 2 | g.47800855C>T | CA346755992 | FBXO11,MSH6 | c.2575C>T (p.Gln859Ter) c.2872C>T (p.Gln958Ter) n.2956C>T c.1606+1266C>T (n.1606+1266C>T) c.2878C>T (p.Gln960Ter) c.628-2565C>T (n.628-2565C>T) c.2029C>T (p.Gln677Ter) c.2482C>T (p.Gln828Ter) c.169+7340G>A (n.169+7340G>A) c.*124+7139G>A (n.*124+7139G>A) c.*2219C>T (n.*2219C>T) c.1966C>T (p.Gln656Ter) c.2869C>T (p.Gln957Ter) c.-225C>T (n.-225C>T) c.2689C>T (p.Gln897Ter) | ClinVar dbSNP |
| 2 | g.47800855_47800856delinsCA | CA2496049909 | FBXO11,MSH6 | c.2575_2576delinsCA (p.Gln859=) c.2872_2873delinsCA (p.Gln958=) n.2956_2957delinsCA c.1606+1266_1606+1267delinsCA (n.1606+1266_1606+1267delinsCA) c.2878_2879delinsCA (p.Gln960=) c.628-2565_628-2564delinsCA (n.628-2565_628-2564delinsCA) c.2029_2030delinsCA (p.Gln677=) c.2482_2483delinsCA (p.Gln828=) c.169+7339_169+7340delinsTG (n.169+7339_169+7340delinsTG) c.*124+7138_*124+7139delinsTG (n.*124+7138_*124+7139delinsTG) c.*2219_*2220delinsCA (n.*2219_*2220delinsCA) c.1966_1967delinsCA (p.Gln656=) c.2869_2870delinsCA (p.Gln957=) c.-225_-224delinsCA (n.-225_-224delinsCA) c.2689_2690delinsCA (p.Gln897=) | |
| 2 | g.47800855_47800857delinsCAG | CA2496049910 | FBXO11,MSH6 | c.2575_2577delinsCAG (p.Gln859=) c.2872_2874delinsCAG (p.Gln958=) n.2956_2958delinsCAG c.1606+1266_1606+1268delinsCAG (n.1606+1266_1606+1268delinsCAG) c.2878_2880delinsCAG (p.Gln960=) c.628-2565_628-2563delinsCAG (n.628-2565_628-2563delinsCAG) c.2029_2031delinsCAG (p.Gln677=) c.2482_2484delinsCAG (p.Gln828=) c.169+7338_169+7340delinsCTG (n.169+7338_169+7340delinsCTG) c.*124+7137_*124+7139delinsCTG (n.*124+7137_*124+7139delinsCTG) c.*2219_*2221delinsCAG (n.*2219_*2221delinsCAG) c.1966_1968delinsCAG (p.Gln656=) c.2869_2871delinsCAG (p.Gln957=) c.-225_-223delinsCAG (n.-225_-223delinsCAG) c.2689_2691delinsCAG (p.Gln897=) | |
| 2 | g.47800856del | CA915943936 | FBXO11,MSH6 | c.2576del (p.Gln859ArgfsTer10) c.2873del (p.Gln958ArgfsTer10) n.2957del c.1606+1267del (n.1606+1267del) c.2879del (p.Gln960ArgfsTer10) c.628-2564del (n.628-2564del) c.2030del (p.Gln677ArgfsTer10) c.2483del (p.Gln828ArgfsTer10) c.169+7339del (n.169+7339del) c.*124+7138del (n.*124+7138del) c.*2220del (n.*2220del) c.1967del (p.Gln656ArgfsTer10) c.2870del (p.Gln957ArgfsTer10) c.-224del (n.-224del) c.2690del (p.Gln897ArgfsTer10) | ClinVar dbSNP |
| 2 | g.47800856A= | CA2496049913 | FBXO11,MSH6 | c.2576A= (p.Gln859=) c.2873A= (p.Gln958=) n.2957A= c.1606+1267A= (n.1606+1267A=) c.2879A= (p.Gln960=) c.628-2564A= (n.628-2564A=) c.2030A= (p.Gln677=) c.2483A= (p.Gln828=) c.169+7339T= (n.169+7339T=) c.*124+7138T= (n.*124+7138T=) c.*2220A= (n.*2220A=) c.1967A= (p.Gln656=) c.2870A= (p.Gln957=) c.-224A= (n.-224A=) c.2690A= (p.Gln897=) | |
| 2 | g.47800856A>C | CA346755996 | FBXO11,MSH6 | c.2576A>C (p.Gln859Pro) c.2873A>C (p.Gln958Pro) n.2957A>C c.1606+1267A>C (n.1606+1267A>C) c.2879A>C (p.Gln960Pro) c.628-2564A>C (n.628-2564A>C) c.2030A>C (p.Gln677Pro) c.2483A>C (p.Gln828Pro) c.169+7339T>G (n.169+7339T>G) c.*124+7138T>G (n.*124+7138T>G) c.*2220A>C (n.*2220A>C) c.1967A>C (p.Gln656Pro) c.2870A>C (p.Gln957Pro) c.-224A>C (n.-224A>C) c.2690A>C (p.Gln897Pro) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800856A>G | CA10578123 | FBXO11,MSH6 | c.2576A>G (p.Gln859Arg) c.2873A>G (p.Gln958Arg) n.2957A>G c.1606+1267A>G (n.1606+1267A>G) c.2879A>G (p.Gln960Arg) c.628-2564A>G (n.628-2564A>G) c.2030A>G (p.Gln677Arg) c.2483A>G (p.Gln828Arg) c.169+7339T>C (n.169+7339T>C) c.*124+7138T>C (n.*124+7138T>C) c.*2220A>G (n.*2220A>G) c.1967A>G (p.Gln656Arg) c.2870A>G (p.Gln957Arg) c.-224A>G (n.-224A>G) c.2690A>G (p.Gln897Arg) | ClinVar dbSNP |
| 2 | g.47800856A>T | CA346755995 | FBXO11,MSH6 | c.2576A>T (p.Gln859Leu) c.2873A>T (p.Gln958Leu) n.2957A>T c.1606+1267A>T (n.1606+1267A>T) c.2879A>T (p.Gln960Leu) c.628-2564A>T (n.628-2564A>T) c.2030A>T (p.Gln677Leu) c.2483A>T (p.Gln828Leu) c.169+7339T>A (n.169+7339T>A) c.*124+7138T>A (n.*124+7138T>A) c.*2220A>T (n.*2220A>T) c.1967A>T (p.Gln656Leu) c.2870A>T (p.Gln957Leu) c.-224A>T (n.-224A>T) c.2690A>T (p.Gln897Leu) | ClinVar dbSNP |
| 2 | g.47800856_47800857del | CA658683237 | FBXO11,MSH6 | c.2576_2577del (p.Gln859ProfsTer7) c.2873_2874del (p.Gln958ProfsTer7) n.2957_2958del c.1606+1267_1606+1268del (n.1606+1267_1606+1268del) c.2879_2880del (p.Gln960ProfsTer7) c.628-2564_628-2563del (n.628-2564_628-2563del) c.2030_2031del (p.Gln677ProfsTer7) c.2483_2484del (p.Gln828ProfsTer7) c.169+7338_169+7339del (n.169+7338_169+7339del) c.*124+7137_*124+7138del (n.*124+7137_*124+7138del) c.*2220_*2221del (n.*2220_*2221del) c.1967_1968del (p.Gln656ProfsTer7) c.2870_2871del (p.Gln957ProfsTer7) c.-224_-223del (n.-224_-223del) c.2690_2691del (p.Gln897ProfsTer7) | ClinVar dbSNP |
| 2 | g.47800856_47800868delinsAGCGCAACAGAAT | CA2496049912 | FBXO11,MSH6 | c.2576_2588delinsAGCGCAACAGAAT (p.Gln859=) c.2873_2885delinsAGCGCAACAGAAT (p.Gln958=) n.2957_2969delinsAGCGCAACAGAAT c.1606+1267_1606+1279delinsAGCGCAACAGAAT (n.1606+1267_1606+1279delinsAGCGCAACAGAAT) c.2879_2891delinsAGCGCAACAGAAT (p.Gln960=) c.628-2564_628-2552delinsAGCGCAACAGAAT (n.628-2564_628-2552delinsAGCGCAACAGAAT) c.2030_2042delinsAGCGCAACAGAAT (p.Gln677=) c.2483_2495delinsAGCGCAACAGAAT (p.Gln828=) c.169+7327_169+7339delinsATTCTGTTGCGCT (n.169+7327_169+7339delinsATTCTGTTGCGCT) c.*124+7126_*124+7138delinsATTCTGTTGCGCT (n.*124+7126_*124+7138delinsATTCTGTTGCGCT) c.*2220_*2232delinsAGCGCAACAGAAT (n.*2220_*2232delinsAGCGCAACAGAAT) c.1967_1979delinsAGCGCAACAGAAT (p.Gln656=) c.2870_2882delinsAGCGCAACAGAAT (p.Gln957=) c.-224_-212delinsAGCGCAACAGAAT (n.-224_-212delinsAGCGCAACAGAAT) c.2690_2702delinsAGCGCAACAGAAT (p.Gln897=) | |
| 2 | g.47800857G>A | CA426121975 | FBXO11,MSH6 | c.2577G>A (p.Gln859=) c.2874G>A (p.Gln958=) n.2958G>A c.1606+1268G>A (n.1606+1268G>A) c.2880G>A (p.Gln960=) c.628-2563G>A (n.628-2563G>A) c.2031G>A (p.Gln677=) c.2484G>A (p.Gln828=) c.169+7338C>T (n.169+7338C>T) c.*124+7137C>T (n.*124+7137C>T) c.*2221G>A (n.*2221G>A) c.1968G>A (p.Gln656=) c.2871G>A (p.Gln957=) c.-223G>A (n.-223G>A) c.2691G>A (p.Gln897=) | ClinVar dbSNP |
| 2 | g.47800857G>C | CA346755999 | FBXO11,MSH6 | c.2577G>C (p.Gln859His) c.2874G>C (p.Gln958His) n.2958G>C c.1606+1268G>C (n.1606+1268G>C) c.2880G>C (p.Gln960His) c.628-2563G>C (n.628-2563G>C) c.2031G>C (p.Gln677His) c.2484G>C (p.Gln828His) c.169+7338C>G (n.169+7338C>G) c.*124+7137C>G (n.*124+7137C>G) c.*2221G>C (n.*2221G>C) c.1968G>C (p.Gln656His) c.2871G>C (p.Gln957His) c.-223G>C (n.-223G>C) c.2691G>C (p.Gln897His) | dbSNP |
| 2 | g.47800857G= | CA2496049914 | FBXO11,MSH6 | c.2577G= (p.Gln859=) c.2874G= (p.Gln958=) n.2958G= c.1606+1268G= (n.1606+1268G=) c.2880G= (p.Gln960=) c.628-2563G= (n.628-2563G=) c.2031G= (p.Gln677=) c.2484G= (p.Gln828=) c.169+7338C= (n.169+7338C=) c.*124+7137C= (n.*124+7137C=) c.*2221G= (n.*2221G=) c.1968G= (p.Gln656=) c.2871G= (p.Gln957=) c.-223G= (n.-223G=) c.2691G= (p.Gln897=) | |
| 2 | g.47800857G>T | CA346756000 | FBXO11,MSH6 | c.2577G>T (p.Gln859His) c.2874G>T (p.Gln958His) n.2958G>T c.1606+1268G>T (n.1606+1268G>T) c.2880G>T (p.Gln960His) c.628-2563G>T (n.628-2563G>T) c.2031G>T (p.Gln677His) c.2484G>T (p.Gln828His) c.169+7338C>A (n.169+7338C>A) c.*124+7137C>A (n.*124+7137C>A) c.*2221G>T (n.*2221G>T) c.1968G>T (p.Gln656His) c.2871G>T (p.Gln957His) c.-223G>T (n.-223G>T) c.2691G>T (p.Gln897His) | |
| 2 | g.47800857_47800868del | CA915943937 | FBXO11,MSH6 | c.2577_2588del (p.Gln859_Ile863delinsHis) c.2874_2885del (p.Gln958_Ile962delinsHis) n.2958_2969del c.1606+1268_1606+1279del (n.1606+1268_1606+1279del) c.2880_2891del (p.Gln960_Ile964delinsHis) c.628-2563_628-2552del (n.628-2563_628-2552del) c.2031_2042del (p.Gln677_Ile681delinsHis) c.2484_2495del (p.Gln828_Ile832delinsHis) c.169+7327_169+7338del (n.169+7327_169+7338del) c.*124+7126_*124+7137del (n.*124+7126_*124+7137del) c.*2221_*2232del (n.*2221_*2232del) c.1968_1979del (p.Gln656_Ile660delinsHis) c.2871_2882del (p.Gln957_Ile961delinsHis) c.-223_-212del (n.-223_-212del) c.2691_2702del (p.Gln897_Ile901delinsHis) | ClinVar dbSNP |
| 2 | g.47800858C>A | CA346756002 | FBXO11,MSH6 | c.2578C>A (p.Arg860Ser) c.2875C>A (p.Arg959Ser) n.2959C>A c.1606+1269C>A (n.1606+1269C>A) c.2881C>A (p.Arg961Ser) c.628-2562C>A (n.628-2562C>A) c.2032C>A (p.Arg678Ser) c.2485C>A (p.Arg829Ser) c.169+7337G>T (n.169+7337G>T) c.*124+7136G>T (n.*124+7136G>T) c.*2222C>A (n.*2222C>A) c.1969C>A (p.Arg657Ser) c.2872C>A (p.Arg958Ser) c.-222C>A (n.-222C>A) c.2692C>A (p.Arg898Ser) | ClinVar dbSNP |
| 2 | g.47800858C= | CA2496049915 | FBXO11,MSH6 | c.2578C= (p.Arg860=) c.2875C= (p.Arg959=) n.2959C= c.1606+1269C= (n.1606+1269C=) c.2881C= (p.Arg961=) c.628-2562C= (n.628-2562C=) c.2032C= (p.Arg678=) c.2485C= (p.Arg829=) c.169+7337G= (n.169+7337G=) c.*124+7136G= (n.*124+7136G=) c.*2222C= (n.*2222C=) c.1969C= (p.Arg657=) c.2872C= (p.Arg958=) c.-222C= (n.-222C=) c.2692C= (p.Arg898=) | |
| 2 | g.47800858C>G | CA346756004 | FBXO11,MSH6 | c.2578C>G (p.Arg860Gly) c.2875C>G (p.Arg959Gly) n.2959C>G c.1606+1269C>G (n.1606+1269C>G) c.2881C>G (p.Arg961Gly) c.628-2562C>G (n.628-2562C>G) c.2032C>G (p.Arg678Gly) c.2485C>G (p.Arg829Gly) c.169+7337G>C (n.169+7337G>C) c.*124+7136G>C (n.*124+7136G>C) c.*2222C>G (n.*2222C>G) c.1969C>G (p.Arg657Gly) c.2872C>G (p.Arg958Gly) c.-222C>G (n.-222C>G) c.2692C>G (p.Arg898Gly) | dbSNP |
| 2 | g.47800858C>T | CA011024 | FBXO11,MSH6 | c.2578C>T (p.Arg860Cys) c.2875C>T (p.Arg959Cys) n.2959C>T c.1606+1269C>T (n.1606+1269C>T) c.2881C>T (p.Arg961Cys) c.628-2562C>T (n.628-2562C>T) c.2032C>T (p.Arg678Cys) c.2485C>T (p.Arg829Cys) c.169+7337G>A (n.169+7337G>A) c.*124+7136G>A (n.*124+7136G>A) c.*2222C>T (n.*2222C>T) c.1969C>T (p.Arg657Cys) c.2872C>T (p.Arg958Cys) c.-222C>T (n.-222C>T) c.2692C>T (p.Arg898Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800859G>A | CA011033 | FBXO11,MSH6 | c.2579G>A (p.Arg860His) c.2876G>A (p.Arg959His) n.2960G>A c.1606+1270G>A (n.1606+1270G>A) c.2882G>A (p.Arg961His) c.628-2561G>A (n.628-2561G>A) c.2033G>A (p.Arg678His) c.2486G>A (p.Arg829His) c.169+7336C>T (n.169+7336C>T) c.*124+7135C>T (n.*124+7135C>T) c.*2223G>A (n.*2223G>A) c.1970G>A (p.Arg657His) c.2873G>A (p.Arg958His) c.-221G>A (n.-221G>A) c.2693G>A (p.Arg898His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.47800859G>C | CA346756008 | FBXO11,MSH6 | c.2579G>C (p.Arg860Pro) c.2876G>C (p.Arg959Pro) n.2960G>C c.1606+1270G>C (n.1606+1270G>C) c.2882G>C (p.Arg961Pro) c.628-2561G>C (n.628-2561G>C) c.2033G>C (p.Arg678Pro) c.2486G>C (p.Arg829Pro) c.169+7336C>G (n.169+7336C>G) c.*124+7135C>G (n.*124+7135C>G) c.*2223G>C (n.*2223G>C) c.1970G>C (p.Arg657Pro) c.2873G>C (p.Arg958Pro) c.-221G>C (n.-221G>C) c.2693G>C (p.Arg898Pro) | ClinVar dbSNP |
| 2 | g.47800859G= | CA2496049916 | FBXO11,MSH6 | c.2579G= (p.Arg860=) c.2876G= (p.Arg959=) n.2960G= c.1606+1270G= (n.1606+1270G=) c.2882G= (p.Arg961=) c.628-2561G= (n.628-2561G=) c.2033G= (p.Arg678=) c.2486G= (p.Arg829=) c.169+7336C= (n.169+7336C=) c.*124+7135C= (n.*124+7135C=) c.*2223G= (n.*2223G=) c.1970G= (p.Arg657=) c.2873G= (p.Arg958=) c.-221G= (n.-221G=) c.2693G= (p.Arg898=) | |
| 2 | g.47800859G>T | CA346756010 | FBXO11,MSH6 | c.2579G>T (p.Arg860Leu) c.2876G>T (p.Arg959Leu) n.2960G>T c.1606+1270G>T (n.1606+1270G>T) c.2882G>T (p.Arg961Leu) c.628-2561G>T (n.628-2561G>T) c.2033G>T (p.Arg678Leu) c.2486G>T (p.Arg829Leu) c.169+7336C>A (n.169+7336C>A) c.*124+7135C>A (n.*124+7135C>A) c.*2223G>T (n.*2223G>T) c.1970G>T (p.Arg657Leu) c.2873G>T (p.Arg958Leu) c.-221G>T (n.-221G>T) c.2693G>T (p.Arg898Leu) | dbSNP |
| 2 | g.47800860C>A | CA426121980 | FBXO11,MSH6 | c.2580C>A (p.Arg860=) c.2877C>A (p.Arg959=) n.2961C>A c.1606+1271C>A (n.1606+1271C>A) c.2883C>A (p.Arg961=) c.628-2560C>A (n.628-2560C>A) c.2034C>A (p.Arg678=) c.2487C>A (p.Arg829=) c.169+7335G>T (n.169+7335G>T) c.*124+7134G>T (n.*124+7134G>T) c.*2224C>A (n.*2224C>A) c.1971C>A (p.Arg657=) c.2874C>A (p.Arg958=) c.-220C>A (n.-220C>A) c.2694C>A (p.Arg898=) | dbSNP |
| 2 | g.47800860C= | CA2496049917 | FBXO11,MSH6 | c.2580C= (p.Arg860=) c.2877C= (p.Arg959=) n.2961C= c.1606+1271C= (n.1606+1271C=) c.2883C= (p.Arg961=) c.628-2560C= (n.628-2560C=) c.2034C= (p.Arg678=) c.2487C= (p.Arg829=) c.169+7335G= (n.169+7335G=) c.*124+7134G= (n.*124+7134G=) c.*2224C= (n.*2224C=) c.1971C= (p.Arg657=) c.2874C= (p.Arg958=) c.-220C= (n.-220C=) c.2694C= (p.Arg898=) | |
| 2 | g.47800860C>G | CA426121981 | FBXO11,MSH6 | c.2580C>G (p.Arg860=) c.2877C>G (p.Arg959=) n.2961C>G c.1606+1271C>G (n.1606+1271C>G) c.2883C>G (p.Arg961=) c.628-2560C>G (n.628-2560C>G) c.2034C>G (p.Arg678=) c.2487C>G (p.Arg829=) c.169+7335G>C (n.169+7335G>C) c.*124+7134G>C (n.*124+7134G>C) c.*2224C>G (n.*2224C>G) c.1971C>G (p.Arg657=) c.2874C>G (p.Arg958=) c.-220C>G (n.-220C>G) c.2694C>G (p.Arg898=) | ClinVar dbSNP |
| 2 | g.47800860C>T | CA011041 | FBXO11,MSH6 | c.2580C>T (p.Arg860=) c.2877C>T (p.Arg959=) n.2961C>T c.1606+1271C>T (n.1606+1271C>T) c.2883C>T (p.Arg961=) c.628-2560C>T (n.628-2560C>T) c.2034C>T (p.Arg678=) c.2487C>T (p.Arg829=) c.169+7335G>A (n.169+7335G>A) c.*124+7134G>A (n.*124+7134G>A) c.*2224C>T (n.*2224C>T) c.1971C>T (p.Arg657=) c.2874C>T (p.Arg958=) c.-220C>T (n.-220C>T) c.2694C>T (p.Arg898=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47800860dup | CA2580068094 | FBXO11,MSH6 | c.2580dup (p.Asn861GlnfsTer6) c.2877dup (p.Asn960GlnfsTer6) n.2961dup c.1606+1271dup (n.1606+1271dup) c.2883dup (p.Asn962GlnfsTer6) c.628-2560dup (n.628-2560dup) c.2034dup (p.Asn679GlnfsTer6) c.2487dup (p.Asn830GlnfsTer6) c.169+7335dup (n.169+7335dup) c.*124+7134dup (n.*124+7134dup) c.*2224dup (n.*2224dup) c.1971dup (p.Asn658GlnfsTer6) c.2874dup (p.Asn959GlnfsTer6) c.-220dup (n.-220dup) c.2694dup (p.Asn899GlnfsTer6) | ClinVar |
| 2 | g.47800861A>C | CA346756014 | FBXO11,MSH6 | c.2581A>C (p.Asn861His) c.2878A>C (p.Asn960His) n.2962A>C c.1606+1272A>C (n.1606+1272A>C) c.2884A>C (p.Asn962His) c.628-2559A>C (n.628-2559A>C) c.2035A>C (p.Asn679His) c.2488A>C (p.Asn830His) c.169+7334T>G (n.169+7334T>G) c.*124+7133T>G (n.*124+7133T>G) c.*2225A>C (n.*2225A>C) c.1972A>C (p.Asn658His) c.2875A>C (p.Asn959His) c.-219A>C (n.-219A>C) c.2695A>C (p.Asn899His) | ClinVar |
| 2 | g.47800861A>G | CA346756016 | FBXO11,MSH6 | c.2581A>G (p.Asn861Asp) c.2878A>G (p.Asn960Asp) n.2962A>G c.1606+1272A>G (n.1606+1272A>G) c.2884A>G (p.Asn962Asp) c.628-2559A>G (n.628-2559A>G) c.2035A>G (p.Asn679Asp) c.2488A>G (p.Asn830Asp) c.169+7334T>C (n.169+7334T>C) c.*124+7133T>C (n.*124+7133T>C) c.*2225A>G (n.*2225A>G) c.1972A>G (p.Asn658Asp) c.2875A>G (p.Asn959Asp) c.-219A>G (n.-219A>G) c.2695A>G (p.Asn899Asp) | ClinVar dbSNP |
| 2 | g.47800861A>T | CA346756017 | FBXO11,MSH6 | c.2581A>T (p.Asn861Tyr) c.2878A>T (p.Asn960Tyr) n.2962A>T c.1606+1272A>T (n.1606+1272A>T) c.2884A>T (p.Asn962Tyr) c.628-2559A>T (n.628-2559A>T) c.2035A>T (p.Asn679Tyr) c.2488A>T (p.Asn830Tyr) c.169+7334T>A (n.169+7334T>A) c.*124+7133T>A (n.*124+7133T>A) c.*2225A>T (n.*2225A>T) c.1972A>T (p.Asn658Tyr) c.2875A>T (p.Asn959Tyr) c.-219A>T (n.-219A>T) c.2695A>T (p.Asn899Tyr) | dbSNP |
| 2 | g.47800862dup | CA2580068095 | FBXO11,MSH6 | c.2582dup (p.Asn861LysfsTer6) c.2879dup (p.Asn960LysfsTer6) n.2963dup c.1606+1273dup (n.1606+1273dup) c.2885dup (p.Asn962LysfsTer6) c.628-2558dup (n.628-2558dup) c.2036dup (p.Asn679LysfsTer6) c.2489dup (p.Asn830LysfsTer6) c.169+7334dup (n.169+7334dup) c.*124+7133dup (n.*124+7133dup) c.*2226dup (n.*2226dup) c.1973dup (p.Asn658LysfsTer6) c.2876dup (p.Asn959LysfsTer6) c.-218dup (n.-218dup) c.2696dup (p.Asn899LysfsTer6) | ClinVar |
| 2 | g.47800862del | CA2580068096 | FBXO11,MSH6 | c.2582del (p.Asn861ThrfsTer8) c.2879del (p.Asn960ThrfsTer8) n.2963del c.1606+1273del (n.1606+1273del) c.2885del (p.Asn962ThrfsTer8) c.628-2558del (n.628-2558del) c.2036del (p.Asn679ThrfsTer8) c.2489del (p.Asn830ThrfsTer8) c.169+7334del (n.169+7334del) c.*124+7133del (n.*124+7133del) c.*2226del (n.*2226del) c.1973del (p.Asn658ThrfsTer8) c.2876del (p.Asn959ThrfsTer8) c.-218del (n.-218del) c.2696del (p.Asn899ThrfsTer8) | ClinVar |
| 2 | g.47800862A= | CA2496049918 | FBXO11,MSH6 | c.2582A= (p.Asn861=) c.2879A= (p.Asn960=) n.2963A= c.1606+1273A= (n.1606+1273A=) c.2885A= (p.Asn962=) c.628-2558A= (n.628-2558A=) c.2036A= (p.Asn679=) c.2489A= (p.Asn830=) c.169+7333T= (n.169+7333T=) c.*124+7132T= (n.*124+7132T=) c.*2226A= (n.*2226A=) c.1973A= (p.Asn658=) c.2876A= (p.Asn959=) c.-218A= (n.-218A=) c.2696A= (p.Asn899=) | |
| 2 | g.47800862A>C | CA346756020 | FBXO11,MSH6 | c.2582A>C (p.Asn861Thr) c.2879A>C (p.Asn960Thr) n.2963A>C c.1606+1273A>C (n.1606+1273A>C) c.2885A>C (p.Asn962Thr) c.628-2558A>C (n.628-2558A>C) c.2036A>C (p.Asn679Thr) c.2489A>C (p.Asn830Thr) c.169+7333T>G (n.169+7333T>G) c.*124+7132T>G (n.*124+7132T>G) c.*2226A>C (n.*2226A>C) c.1973A>C (p.Asn658Thr) c.2876A>C (p.Asn959Thr) c.-218A>C (n.-218A>C) c.2696A>C (p.Asn899Thr) | ClinVar dbSNP COSMIC |
| 2 | g.47800862A>G | CA069746 | FBXO11,MSH6 | c.2582A>G (p.Asn861Ser) c.2879A>G (p.Asn960Ser) n.2963A>G c.1606+1273A>G (n.1606+1273A>G) c.2885A>G (p.Asn962Ser) c.628-2558A>G (n.628-2558A>G) c.2036A>G (p.Asn679Ser) c.2489A>G (p.Asn830Ser) c.169+7333T>C (n.169+7333T>C) c.*124+7132T>C (n.*124+7132T>C) c.*2226A>G (n.*2226A>G) c.1973A>G (p.Asn658Ser) c.2876A>G (p.Asn959Ser) c.-218A>G (n.-218A>G) c.2696A>G (p.Asn899Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47800862A>T | CA346756022 | FBXO11,MSH6 | c.2582A>T (p.Asn861Ile) c.2879A>T (p.Asn960Ile) n.2963A>T c.1606+1273A>T (n.1606+1273A>T) c.2885A>T (p.Asn962Ile) c.628-2558A>T (n.628-2558A>T) c.2036A>T (p.Asn679Ile) c.2489A>T (p.Asn830Ile) c.169+7333T>A (n.169+7333T>A) c.*124+7132T>A (n.*124+7132T>A) c.*2226A>T (n.*2226A>T) c.1973A>T (p.Asn658Ile) c.2876A>T (p.Asn959Ile) c.-218A>T (n.-218A>T) c.2696A>T (p.Asn899Ile) | dbSNP |