| 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.47800874G>A | CA346756067 | FBXO11,MSH6 | c.2594G>A (p.Cys865Tyr) c.2891G>A (p.Cys964Tyr) n.2975G>A c.1606+1285G>A (n.1606+1285G>A) c.2897G>A (p.Cys966Tyr) c.628-2546G>A (n.628-2546G>A) c.2048G>A (p.Cys683Tyr) c.2501G>A (p.Cys834Tyr) c.169+7321C>T (n.169+7321C>T) c.*124+7120C>T (n.*124+7120C>T) c.*2238G>A (n.*2238G>A) c.1985G>A (p.Cys662Tyr) c.2888G>A (p.Cys963Tyr) c.-206G>A (n.-206G>A) c.2708G>A (p.Cys903Tyr) | ClinVar dbSNP |
| 2 | g.47800874G>C | CA346756070 | FBXO11,MSH6 | c.2594G>C (p.Cys865Ser) c.2891G>C (p.Cys964Ser) n.2975G>C c.1606+1285G>C (n.1606+1285G>C) c.2897G>C (p.Cys966Ser) c.628-2546G>C (n.628-2546G>C) c.2048G>C (p.Cys683Ser) c.2501G>C (p.Cys834Ser) c.169+7321C>G (n.169+7321C>G) c.*124+7120C>G (n.*124+7120C>G) c.*2238G>C (n.*2238G>C) c.1985G>C (p.Cys662Ser) c.2888G>C (p.Cys963Ser) c.-206G>C (n.-206G>C) c.2708G>C (p.Cys903Ser) | dbSNP |
| 2 | g.47800874G>T | CA346756068 | FBXO11,MSH6 | c.2594G>T (p.Cys865Phe) c.2891G>T (p.Cys964Phe) n.2975G>T c.1606+1285G>T (n.1606+1285G>T) c.2897G>T (p.Cys966Phe) c.628-2546G>T (n.628-2546G>T) c.2048G>T (p.Cys683Phe) c.2501G>T (p.Cys834Phe) c.169+7321C>A (n.169+7321C>A) c.*124+7120C>A (n.*124+7120C>A) c.*2238G>T (n.*2238G>T) c.1985G>T (p.Cys662Phe) c.2888G>T (p.Cys963Phe) c.-206G>T (n.-206G>T) c.2708G>T (p.Cys903Phe) | |
| 2 | g.47800875T>A | CA346756072 | FBXO11,MSH6 | c.2595T>A (p.Cys865Ter) c.2892T>A (p.Cys964Ter) n.2976T>A c.1606+1286T>A (n.1606+1286T>A) c.2898T>A (p.Cys966Ter) c.628-2545T>A (n.628-2545T>A) c.2049T>A (p.Cys683Ter) c.2502T>A (p.Cys834Ter) c.169+7320A>T (n.169+7320A>T) c.*124+7119A>T (n.*124+7119A>T) c.*2239T>A (n.*2239T>A) c.1986T>A (p.Cys662Ter) c.2889T>A (p.Cys963Ter) c.-205T>A (n.-205T>A) c.2709T>A (p.Cys903Ter) | ClinVar dbSNP |
| 2 | g.47800875T>C | CA426122000 | FBXO11,MSH6 | c.2595T>C (p.Cys865=) c.2892T>C (p.Cys964=) n.2976T>C c.1606+1286T>C (n.1606+1286T>C) c.2898T>C (p.Cys966=) c.628-2545T>C (n.628-2545T>C) c.2049T>C (p.Cys683=) c.2502T>C (p.Cys834=) c.169+7320A>G (n.169+7320A>G) c.*124+7119A>G (n.*124+7119A>G) c.*2239T>C (n.*2239T>C) c.1986T>C (p.Cys662=) c.2889T>C (p.Cys963=) c.-205T>C (n.-205T>C) c.2709T>C (p.Cys903=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800875T>G | CA346756074 | FBXO11,MSH6 | c.2595T>G (p.Cys865Trp) c.2892T>G (p.Cys964Trp) n.2976T>G c.1606+1286T>G (n.1606+1286T>G) c.2898T>G (p.Cys966Trp) c.628-2545T>G (n.628-2545T>G) c.2049T>G (p.Cys683Trp) c.2502T>G (p.Cys834Trp) c.169+7320A>C (n.169+7320A>C) c.*124+7119A>C (n.*124+7119A>C) c.*2239T>G (n.*2239T>G) c.1986T>G (p.Cys662Trp) c.2889T>G (p.Cys963Trp) c.-205T>G (n.-205T>G) c.2709T>G (p.Cys903Trp) | dbSNP |
| 2 | g.47800875T= | CA2496049927 | FBXO11,MSH6 | c.2595T= (p.Cys865=) c.2892T= (p.Cys964=) n.2976T= c.1606+1286T= (n.1606+1286T=) c.2898T= (p.Cys966=) c.628-2545T= (n.628-2545T=) c.2049T= (p.Cys683=) c.2502T= (p.Cys834=) c.169+7320A= (n.169+7320A=) c.*124+7119A= (n.*124+7119A=) c.*2239T= (n.*2239T=) c.1986T= (p.Cys662=) c.2889T= (p.Cys963=) c.-205T= (n.-205T=) c.2709T= (p.Cys903=) | |
| 2 | g.47800875dup | CA2580068100 | FBXO11,MSH6 | c.2595dup (p.Arg866Ter) c.2892dup (p.Arg965Ter) n.2976dup c.1606+1286dup (n.1606+1286dup) c.2898dup (p.Arg967Ter) c.628-2545dup (n.628-2545dup) c.2049dup (p.Arg684Ter) c.2502dup (p.Arg835Ter) c.169+7320dup (n.169+7320dup) c.*124+7119dup (n.*124+7119dup) c.*2239dup (n.*2239dup) c.1986dup (p.Arg663Ter) c.2889dup (p.Arg964Ter) c.-205dup (n.-205dup) c.2709dup (p.Arg904Ter) | ClinVar |
| 2 | g.47800876A= | CA2496049928 | FBXO11,MSH6 | c.2596A= (p.Arg866=) c.2893A= (p.Arg965=) n.2977A= c.1606+1287A= (n.1606+1287A=) c.2899A= (p.Arg967=) c.628-2544A= (n.628-2544A=) c.2050A= (p.Arg684=) c.2503A= (p.Arg835=) c.169+7319T= (n.169+7319T=) c.*124+7118T= (n.*124+7118T=) c.*2240A= (n.*2240A=) c.1987A= (p.Arg663=) c.2890A= (p.Arg964=) c.-204A= (n.-204A=) c.2710A= (p.Arg904=) | |
| 2 | g.47800876A>C | CA426122002 | FBXO11,MSH6 | c.2596A>C (p.Arg866=) c.2893A>C (p.Arg965=) n.2977A>C c.1606+1287A>C (n.1606+1287A>C) c.2899A>C (p.Arg967=) c.628-2544A>C (n.628-2544A>C) c.2050A>C (p.Arg684=) c.2503A>C (p.Arg835=) c.169+7319T>G (n.169+7319T>G) c.*124+7118T>G (n.*124+7118T>G) c.*2240A>C (n.*2240A>C) c.1987A>C (p.Arg663=) c.2890A>C (p.Arg964=) c.-204A>C (n.-204A>C) c.2710A>C (p.Arg904=) | |
| 2 | g.47800876A>G | CA346756076 | FBXO11,MSH6 | c.2596A>G (p.Arg866Gly) c.2893A>G (p.Arg965Gly) n.2977A>G c.1606+1287A>G (n.1606+1287A>G) c.2899A>G (p.Arg967Gly) c.628-2544A>G (n.628-2544A>G) c.2050A>G (p.Arg684Gly) c.2503A>G (p.Arg835Gly) c.169+7319T>C (n.169+7319T>C) c.*124+7118T>C (n.*124+7118T>C) c.*2240A>G (n.*2240A>G) c.1987A>G (p.Arg663Gly) c.2890A>G (p.Arg964Gly) c.-204A>G (n.-204A>G) c.2710A>G (p.Arg904Gly) | ClinVar dbSNP |
| 2 | g.47800876A>T | CA346756077 | FBXO11,MSH6 | c.2596A>T (p.Arg866Trp) c.2893A>T (p.Arg965Trp) n.2977A>T c.1606+1287A>T (n.1606+1287A>T) c.2899A>T (p.Arg967Trp) c.628-2544A>T (n.628-2544A>T) c.2050A>T (p.Arg684Trp) c.2503A>T (p.Arg835Trp) c.169+7319T>A (n.169+7319T>A) c.*124+7118T>A (n.*124+7118T>A) c.*2240A>T (n.*2240A>T) c.1987A>T (p.Arg663Trp) c.2890A>T (p.Arg964Trp) c.-204A>T (n.-204A>T) c.2710A>T (p.Arg904Trp) | ClinVar dbSNP |
| 2 | g.47800876dup | CA2586964841 | FBXO11,MSH6 | c.2596dup (p.Arg866LysfsTer10) c.2893dup (p.Arg965LysfsTer10) n.2977dup c.1606+1287dup (n.1606+1287dup) c.2899dup (p.Arg967LysfsTer10) c.628-2544dup (n.628-2544dup) c.2050dup (p.Arg684LysfsTer10) c.2503dup (p.Arg835LysfsTer10) c.169+7319dup (n.169+7319dup) c.*124+7118dup (n.*124+7118dup) c.*2240dup (n.*2240dup) c.1987dup (p.Arg663LysfsTer10) c.2890dup (p.Arg964LysfsTer10) c.-204dup (n.-204dup) c.2710dup (p.Arg904LysfsTer10) | |
| 2 | g.47800877G>A | CA346756083 | FBXO11,MSH6 | c.2597G>A (p.Arg866Lys) c.2894G>A (p.Arg965Lys) n.2978G>A c.1606+1288G>A (n.1606+1288G>A) c.2900G>A (p.Arg967Lys) c.628-2543G>A (n.628-2543G>A) c.2051G>A (p.Arg684Lys) c.2504G>A (p.Arg835Lys) c.169+7318C>T (n.169+7318C>T) c.*124+7117C>T (n.*124+7117C>T) c.*2241G>A (n.*2241G>A) c.1988G>A (p.Arg663Lys) c.2891G>A (p.Arg964Lys) c.-203G>A (n.-203G>A) c.2711G>A (p.Arg904Lys) | ClinVar dbSNP |
| 2 | g.47800877G>C | CA346756080 | FBXO11,MSH6 | c.2597G>C (p.Arg866Thr) c.2894G>C (p.Arg965Thr) n.2978G>C c.1606+1288G>C (n.1606+1288G>C) c.2900G>C (p.Arg967Thr) c.628-2543G>C (n.628-2543G>C) c.2051G>C (p.Arg684Thr) c.2504G>C (p.Arg835Thr) c.169+7318C>G (n.169+7318C>G) c.*124+7117C>G (n.*124+7117C>G) c.*2241G>C (n.*2241G>C) c.1988G>C (p.Arg663Thr) c.2891G>C (p.Arg964Thr) c.-203G>C (n.-203G>C) c.2711G>C (p.Arg904Thr) | ClinVar dbSNP |
| 2 | g.47800877G= | CA2496049929 | FBXO11,MSH6 | c.2597G= (p.Arg866=) c.2894G= (p.Arg965=) n.2978G= c.1606+1288G= (n.1606+1288G=) c.2900G= (p.Arg967=) c.628-2543G= (n.628-2543G=) c.2051G= (p.Arg684=) c.2504G= (p.Arg835=) c.169+7318C= (n.169+7318C=) c.*124+7117C= (n.*124+7117C=) c.*2241G= (n.*2241G=) c.1988G= (p.Arg663=) c.2891G= (p.Arg964=) c.-203G= (n.-203G=) c.2711G= (p.Arg904=) | |
| 2 | g.47800877G>T | CA346756081 | FBXO11,MSH6 | c.2597G>T (p.Arg866Met) c.2894G>T (p.Arg965Met) n.2978G>T c.1606+1288G>T (n.1606+1288G>T) c.2900G>T (p.Arg967Met) c.628-2543G>T (n.628-2543G>T) c.2051G>T (p.Arg684Met) c.2504G>T (p.Arg835Met) c.169+7318C>A (n.169+7318C>A) c.*124+7117C>A (n.*124+7117C>A) c.*2241G>T (n.*2241G>T) c.1988G>T (p.Arg663Met) c.2891G>T (p.Arg964Met) c.-203G>T (n.-203G>T) c.2711G>T (p.Arg904Met) | dbSNP |
| 2 | g.47800878G>A | CA426122004 | FBXO11,MSH6 | c.2598G>A (p.Arg866=) c.2895G>A (p.Arg965=) n.2979G>A c.1606+1289G>A (n.1606+1289G>A) c.2901G>A (p.Arg967=) c.628-2542G>A (n.628-2542G>A) c.2052G>A (p.Arg684=) c.2505G>A (p.Arg835=) c.169+7317C>T (n.169+7317C>T) c.*124+7116C>T (n.*124+7116C>T) c.*2242G>A (n.*2242G>A) c.1989G>A (p.Arg663=) c.2892G>A (p.Arg964=) c.-202G>A (n.-202G>A) c.2712G>A (p.Arg904=) | ClinVar dbSNP |
| 2 | g.47800878G>C | CA346756085 | FBXO11,MSH6 | c.2598G>C (p.Arg866Ser) c.2895G>C (p.Arg965Ser) n.2979G>C c.1606+1289G>C (n.1606+1289G>C) c.2901G>C (p.Arg967Ser) c.628-2542G>C (n.628-2542G>C) c.2052G>C (p.Arg684Ser) c.2505G>C (p.Arg835Ser) c.169+7317C>G (n.169+7317C>G) c.*124+7116C>G (n.*124+7116C>G) c.*2242G>C (n.*2242G>C) c.1989G>C (p.Arg663Ser) c.2892G>C (p.Arg964Ser) c.-202G>C (n.-202G>C) c.2712G>C (p.Arg904Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800878G= | CA2496049930 | FBXO11,MSH6 | c.2598G= (p.Arg866=) c.2895G= (p.Arg965=) n.2979G= c.1606+1289G= (n.1606+1289G=) c.2901G= (p.Arg967=) c.628-2542G= (n.628-2542G=) c.2052G= (p.Arg684=) c.2505G= (p.Arg835=) c.169+7317C= (n.169+7317C=) c.*124+7116C= (n.*124+7116C=) c.*2242G= (n.*2242G=) c.1989G= (p.Arg663=) c.2892G= (p.Arg964=) c.-202G= (n.-202G=) c.2712G= (p.Arg904=) | |
| 2 | g.47800878G>T | CA346756086 | FBXO11,MSH6 | c.2598G>T (p.Arg866Ser) c.2895G>T (p.Arg965Ser) n.2979G>T c.1606+1289G>T (n.1606+1289G>T) c.2901G>T (p.Arg967Ser) c.628-2542G>T (n.628-2542G>T) c.2052G>T (p.Arg684Ser) c.2505G>T (p.Arg835Ser) c.169+7317C>A (n.169+7317C>A) c.*124+7116C>A (n.*124+7116C>A) c.*2242G>T (n.*2242G>T) c.1989G>T (p.Arg663Ser) c.2892G>T (p.Arg964Ser) c.-202G>T (n.-202G>T) c.2712G>T (p.Arg904Ser) | ClinVar dbSNP |
| 2 | g.47800879A= | CA2496049931 | FBXO11,MSH6 | c.2599A= (p.Thr867=) c.2896A= (p.Thr966=) n.2980A= c.1606+1290A= (n.1606+1290A=) c.2902A= (p.Thr968=) c.628-2541A= (n.628-2541A=) c.2053A= (p.Thr685=) c.2506A= (p.Thr836=) c.169+7316T= (n.169+7316T=) c.*124+7115T= (n.*124+7115T=) c.*2243A= (n.*2243A=) c.1990A= (p.Thr664=) c.2893A= (p.Thr965=) c.-201A= (n.-201A=) c.2713A= (p.Thr905=) | |
| 2 | g.47800879A>C | CA346756087 | FBXO11,MSH6 | c.2599A>C (p.Thr867Pro) c.2896A>C (p.Thr966Pro) n.2980A>C c.1606+1290A>C (n.1606+1290A>C) c.2902A>C (p.Thr968Pro) c.628-2541A>C (n.628-2541A>C) c.2053A>C (p.Thr685Pro) c.2506A>C (p.Thr836Pro) c.169+7316T>G (n.169+7316T>G) c.*124+7115T>G (n.*124+7115T>G) c.*2243A>C (n.*2243A>C) c.1990A>C (p.Thr664Pro) c.2893A>C (p.Thr965Pro) c.-201A>C (n.-201A>C) c.2713A>C (p.Thr905Pro) | |
| 2 | g.47800879A>G | CA346756089 | FBXO11,MSH6 | c.2599A>G (p.Thr867Ala) c.2896A>G (p.Thr966Ala) n.2980A>G c.1606+1290A>G (n.1606+1290A>G) c.2902A>G (p.Thr968Ala) c.628-2541A>G (n.628-2541A>G) c.2053A>G (p.Thr685Ala) c.2506A>G (p.Thr836Ala) c.169+7316T>C (n.169+7316T>C) c.*124+7115T>C (n.*124+7115T>C) c.*2243A>G (n.*2243A>G) c.1990A>G (p.Thr664Ala) c.2893A>G (p.Thr965Ala) c.-201A>G (n.-201A>G) c.2713A>G (p.Thr905Ala) | ClinVar dbSNP |
| 2 | g.47800879A>T | CA346756091 | FBXO11,MSH6 | c.2599A>T (p.Thr867Ser) c.2896A>T (p.Thr966Ser) n.2980A>T c.1606+1290A>T (n.1606+1290A>T) c.2902A>T (p.Thr968Ser) c.628-2541A>T (n.628-2541A>T) c.2053A>T (p.Thr685Ser) c.2506A>T (p.Thr836Ser) c.169+7316T>A (n.169+7316T>A) c.*124+7115T>A (n.*124+7115T>A) c.*2243A>T (n.*2243A>T) c.1990A>T (p.Thr664Ser) c.2893A>T (p.Thr965Ser) c.-201A>T (n.-201A>T) c.2713A>T (p.Thr905Ser) | |
| 2 | g.47800880C>A | CA346756093 | FBXO11,MSH6 | c.2600C>A (p.Thr867Asn) c.2897C>A (p.Thr966Asn) n.2981C>A c.1606+1291C>A (n.1606+1291C>A) c.2903C>A (p.Thr968Asn) c.628-2540C>A (n.628-2540C>A) c.2054C>A (p.Thr685Asn) c.2507C>A (p.Thr836Asn) c.169+7315G>T (n.169+7315G>T) c.*124+7114G>T (n.*124+7114G>T) c.*2244C>A (n.*2244C>A) c.1991C>A (p.Thr664Asn) c.2894C>A (p.Thr965Asn) c.-200C>A (n.-200C>A) c.2714C>A (p.Thr905Asn) | ClinVar dbSNP |
| 2 | g.47800880C= | CA2496049932 | FBXO11,MSH6 | c.2600C= (p.Thr867=) c.2897C= (p.Thr966=) n.2981C= c.1606+1291C= (n.1606+1291C=) c.2903C= (p.Thr968=) c.628-2540C= (n.628-2540C=) c.2054C= (p.Thr685=) c.2507C= (p.Thr836=) c.169+7315G= (n.169+7315G=) c.*124+7114G= (n.*124+7114G=) c.*2244C= (n.*2244C=) c.1991C= (p.Thr664=) c.2894C= (p.Thr965=) c.-200C= (n.-200C=) c.2714C= (p.Thr905=) | |
| 2 | g.47800880C>G | CA346756094 | FBXO11,MSH6 | c.2600C>G (p.Thr867Ser) c.2897C>G (p.Thr966Ser) n.2981C>G c.1606+1291C>G (n.1606+1291C>G) c.2903C>G (p.Thr968Ser) c.628-2540C>G (n.628-2540C>G) c.2054C>G (p.Thr685Ser) c.2507C>G (p.Thr836Ser) c.169+7315G>C (n.169+7315G>C) c.*124+7114G>C (n.*124+7114G>C) c.*2244C>G (n.*2244C>G) c.1991C>G (p.Thr664Ser) c.2894C>G (p.Thr965Ser) c.-200C>G (n.-200C>G) c.2714C>G (p.Thr905Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.47800880C>T | CA346756096 | FBXO11,MSH6 | c.2600C>T (p.Thr867Ile) c.2897C>T (p.Thr966Ile) n.2981C>T c.1606+1291C>T (n.1606+1291C>T) c.2903C>T (p.Thr968Ile) c.628-2540C>T (n.628-2540C>T) c.2054C>T (p.Thr685Ile) c.2507C>T (p.Thr836Ile) c.169+7315G>A (n.169+7315G>A) c.*124+7114G>A (n.*124+7114G>A) c.*2244C>T (n.*2244C>T) c.1991C>T (p.Thr664Ile) c.2894C>T (p.Thr965Ile) c.-200C>T (n.-200C>T) c.2714C>T (p.Thr905Ile) | ClinVar dbSNP |
| 2 | g.47800880_47800881dup | CA2499216120 | FBXO11,MSH6 | c.2600_2601dup (p.Ile868ProfsTer2) c.2897_2898dup (p.Ile967ProfsTer2) n.2981_2982dup c.1606+1291_1606+1292dup (n.1606+1291_1606+1292dup) c.2903_2904dup (p.Ile969ProfsTer2) c.628-2540_628-2539dup (n.628-2540_628-2539dup) c.2054_2055dup (p.Ile686ProfsTer2) c.2507_2508dup (p.Ile837ProfsTer2) c.169+7314_169+7315dup (n.169+7314_169+7315dup) c.*124+7113_*124+7114dup (n.*124+7113_*124+7114dup) c.*2244_*2245dup (n.*2244_*2245dup) c.1991_1992dup (p.Ile665ProfsTer2) c.2894_2895dup (p.Ile966ProfsTer2) c.-200_-199dup (n.-200_-199dup) c.2714_2715dup (p.Ile906ProfsTer2) | ClinVar dbSNP |
| 2 | g.47800880_47800882delinsCCA | CA2496049934 | FBXO11,MSH6 | c.2600_2602delinsCCA (p.Thr867=) c.2897_2899delinsCCA (p.Thr966=) n.2981_2983delinsCCA c.1606+1291_1606+1293delinsCCA (n.1606+1291_1606+1293delinsCCA) c.2903_2905delinsCCA (p.Thr968=) c.628-2540_628-2538delinsCCA (n.628-2540_628-2538delinsCCA) c.2054_2056delinsCCA (p.Thr685=) c.2507_2509delinsCCA (p.Thr836=) c.169+7313_169+7315delinsTGG (n.169+7313_169+7315delinsTGG) c.*124+7112_*124+7114delinsTGG (n.*124+7112_*124+7114delinsTGG) c.*2244_*2246delinsCCA (n.*2244_*2246delinsCCA) c.1991_1993delinsCCA (p.Thr664=) c.2894_2896delinsCCA (p.Thr965=) c.-200_-198delinsCCA (n.-200_-198delinsCCA) c.2714_2716delinsCCA (p.Thr905=) | |
| 2 | g.47800880_47800886delinsCCATAGT | CA2496049933 | FBXO11,MSH6 | c.2600_2606delinsCCATAGT (p.Thr867=) c.2897_2903delinsCCATAGT (p.Thr966=) n.2981_2987delinsCCATAGT c.1606+1291_1606+1297delinsCCATAGT (n.1606+1291_1606+1297delinsCCATAGT) c.2903_2909delinsCCATAGT (p.Thr968=) c.628-2540_628-2534delinsCCATAGT (n.628-2540_628-2534delinsCCATAGT) c.2054_2060delinsCCATAGT (p.Thr685=) c.2507_2513delinsCCATAGT (p.Thr836=) c.169+7309_169+7315delinsACTATGG (n.169+7309_169+7315delinsACTATGG) c.*124+7108_*124+7114delinsACTATGG (n.*124+7108_*124+7114delinsACTATGG) c.*2244_*2250delinsCCATAGT (n.*2244_*2250delinsCCATAGT) c.1991_1997delinsCCATAGT (p.Thr664=) c.2894_2900delinsCCATAGT (p.Thr965=) c.-200_-194delinsCCATAGT (n.-200_-194delinsCCATAGT) c.2714_2720delinsCCATAGT (p.Thr905=) | |
| 2 | g.47800881C>A | CA426122008 | FBXO11,MSH6 | c.2601C>A (p.Thr867=) c.2898C>A (p.Thr966=) n.2982C>A c.1606+1292C>A (n.1606+1292C>A) c.2904C>A (p.Thr968=) c.628-2539C>A (n.628-2539C>A) c.2055C>A (p.Thr685=) c.2508C>A (p.Thr836=) c.169+7314G>T (n.169+7314G>T) c.*124+7113G>T (n.*124+7113G>T) c.*2245C>A (n.*2245C>A) c.1992C>A (p.Thr664=) c.2895C>A (p.Thr965=) c.-199C>A (n.-199C>A) c.2715C>A (p.Thr905=) | ClinVar dbSNP |
| 2 | g.47800881C= | CA2496049935 | FBXO11,MSH6 | c.2601C= (p.Thr867=) c.2898C= (p.Thr966=) n.2982C= c.1606+1292C= (n.1606+1292C=) c.2904C= (p.Thr968=) c.628-2539C= (n.628-2539C=) c.2055C= (p.Thr685=) c.2508C= (p.Thr836=) c.169+7314G= (n.169+7314G=) c.*124+7113G= (n.*124+7113G=) c.*2245C= (n.*2245C=) c.1992C= (p.Thr664=) c.2895C= (p.Thr965=) c.-199C= (n.-199C=) c.2715C= (p.Thr905=) | |
| 2 | g.47800881C>G | CA426122010 | FBXO11,MSH6 | c.2601C>G (p.Thr867=) c.2898C>G (p.Thr966=) n.2982C>G c.1606+1292C>G (n.1606+1292C>G) c.2904C>G (p.Thr968=) c.628-2539C>G (n.628-2539C>G) c.2055C>G (p.Thr685=) c.2508C>G (p.Thr836=) c.169+7314G>C (n.169+7314G>C) c.*124+7113G>C (n.*124+7113G>C) c.*2245C>G (n.*2245C>G) c.1992C>G (p.Thr664=) c.2895C>G (p.Thr965=) c.-199C>G (n.-199C>G) c.2715C>G (p.Thr905=) | ClinVar dbSNP |
| 2 | g.47800881C>T | CA069786 | FBXO11,MSH6 | c.2601C>T (p.Thr867=) c.2898C>T (p.Thr966=) n.2982C>T c.1606+1292C>T (n.1606+1292C>T) c.2904C>T (p.Thr968=) c.628-2539C>T (n.628-2539C>T) c.2055C>T (p.Thr685=) c.2508C>T (p.Thr836=) c.169+7314G>A (n.169+7314G>A) c.*124+7113G>A (n.*124+7113G>A) c.*2245C>T (n.*2245C>T) c.1992C>T (p.Thr664=) c.2895C>T (p.Thr965=) c.-199C>T (n.-199C>T) c.2715C>T (p.Thr905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800881_47800882del | CA1030294213 | FBXO11,MSH6 | c.2601_2602del (p.Ile868SerfsTer7) c.2898_2899del (p.Ile967SerfsTer7) n.2982_2983del c.1606+1292_1606+1293del (n.1606+1292_1606+1293del) c.2904_2905del (p.Ile969SerfsTer7) c.628-2539_628-2538del (n.628-2539_628-2538del) c.2055_2056del (p.Ile686SerfsTer7) c.2508_2509del (p.Ile837SerfsTer7) c.169+7313_169+7314del (n.169+7313_169+7314del) c.*124+7112_*124+7113del (n.*124+7112_*124+7113del) c.*2245_*2246del (n.*2245_*2246del) c.1992_1993del (p.Ile665SerfsTer7) c.2895_2896del (p.Ile966SerfsTer7) c.-199_-198del (n.-199_-198del) c.2715_2716del (p.Ile906SerfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47800882_47800887del | CA769515817 | FBXO11,MSH6 | c.2602_2607del (p.Ile868_Val869del) c.2899_2904del (p.Ile967_Val968del) n.2983_2988del c.1606+1293_1606+1298del (n.1606+1293_1606+1298del) c.2905_2910del (p.Ile969_Val970del) c.628-2538_628-2533del (n.628-2538_628-2533del) c.2056_2061del (p.Ile686_Val687del) c.2509_2514del (p.Ile837_Val838del) c.169+7309_169+7314del (n.169+7309_169+7314del) c.*124+7108_*124+7113del (n.*124+7108_*124+7113del) c.*2246_*2251del (n.*2246_*2251del) c.1993_1998del (p.Ile665_Val666del) c.2896_2901del (p.Ile966_Val967del) c.-198_-193del (n.-198_-193del) c.2716_2721del (p.Ile906_Val907del) | dbSNP |
| 2 | g.47800882A= | CA2496049936 | FBXO11,MSH6 | c.2602A= (p.Ile868=) c.2899A= (p.Ile967=) n.2983A= c.1606+1293A= (n.1606+1293A=) c.2905A= (p.Ile969=) c.628-2538A= (n.628-2538A=) c.2056A= (p.Ile686=) c.2509A= (p.Ile837=) c.169+7313T= (n.169+7313T=) c.*124+7112T= (n.*124+7112T=) c.*2246A= (n.*2246A=) c.1993A= (p.Ile665=) c.2896A= (p.Ile966=) c.-198A= (n.-198A=) c.2716A= (p.Ile906=) | |
| 2 | g.47800882A>C | CA346756100 | FBXO11,MSH6 | c.2602A>C (p.Ile868Leu) c.2899A>C (p.Ile967Leu) n.2983A>C c.1606+1293A>C (n.1606+1293A>C) c.2905A>C (p.Ile969Leu) c.628-2538A>C (n.628-2538A>C) c.2056A>C (p.Ile686Leu) c.2509A>C (p.Ile837Leu) c.169+7313T>G (n.169+7313T>G) c.*124+7112T>G (n.*124+7112T>G) c.*2246A>C (n.*2246A>C) c.1993A>C (p.Ile665Leu) c.2896A>C (p.Ile966Leu) c.-198A>C (n.-198A>C) c.2716A>C (p.Ile906Leu) | |
| 2 | g.47800882A>G | CA10577283 | FBXO11,MSH6 | c.2602A>G (p.Ile868Val) c.2899A>G (p.Ile967Val) n.2983A>G c.1606+1293A>G (n.1606+1293A>G) c.2905A>G (p.Ile969Val) c.628-2538A>G (n.628-2538A>G) c.2056A>G (p.Ile686Val) c.2509A>G (p.Ile837Val) c.169+7313T>C (n.169+7313T>C) c.*124+7112T>C (n.*124+7112T>C) c.*2246A>G (n.*2246A>G) c.1993A>G (p.Ile665Val) c.2896A>G (p.Ile966Val) c.-198A>G (n.-198A>G) c.2716A>G (p.Ile906Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800882A>T | CA346756102 | FBXO11,MSH6 | c.2602A>T (p.Ile868Leu) c.2899A>T (p.Ile967Leu) n.2983A>T c.1606+1293A>T (n.1606+1293A>T) c.2905A>T (p.Ile969Leu) c.628-2538A>T (n.628-2538A>T) c.2056A>T (p.Ile686Leu) c.2509A>T (p.Ile837Leu) c.169+7313T>A (n.169+7313T>A) c.*124+7112T>A (n.*124+7112T>A) c.*2246A>T (n.*2246A>T) c.1993A>T (p.Ile665Leu) c.2896A>T (p.Ile966Leu) c.-198A>T (n.-198A>T) c.2716A>T (p.Ile906Leu) | dbSNP |
| 2 | g.47800883_47800884del | CA2580068104 | FBXO11,MSH6 | c.2603_2604del (p.Ile868SerfsTer7) c.2900_2901del (p.Ile967SerfsTer7) n.2984_2985del c.1606+1294_1606+1295del (n.1606+1294_1606+1295del) c.2906_2907del (p.Ile969SerfsTer7) c.628-2537_628-2536del (n.628-2537_628-2536del) c.2057_2058del (p.Ile686SerfsTer7) c.2510_2511del (p.Ile837SerfsTer7) c.169+7312_169+7313del (n.169+7312_169+7313del) c.*124+7111_*124+7112del (n.*124+7111_*124+7112del) c.*2247_*2248del (n.*2247_*2248del) c.1994_1995del (p.Ile665SerfsTer7) c.2897_2898del (p.Ile966SerfsTer7) c.-197_-196del (n.-197_-196del) c.2717_2718del (p.Ile906SerfsTer7) | ClinVar |
| 2 | g.47800883T>A | CA346756104 | FBXO11,MSH6 | c.2603T>A (p.Ile868Lys) c.2900T>A (p.Ile967Lys) n.2984T>A c.1606+1294T>A (n.1606+1294T>A) c.2906T>A (p.Ile969Lys) c.628-2537T>A (n.628-2537T>A) c.2057T>A (p.Ile686Lys) c.2510T>A (p.Ile837Lys) c.169+7312A>T (n.169+7312A>T) c.*124+7111A>T (n.*124+7111A>T) c.*2247T>A (n.*2247T>A) c.1994T>A (p.Ile665Lys) c.2897T>A (p.Ile966Lys) c.-197T>A (n.-197T>A) c.2717T>A (p.Ile906Lys) | dbSNP |
| 2 | g.47800883T>C | CA346756108 | FBXO11,MSH6 | c.2603T>C (p.Ile868Thr) c.2900T>C (p.Ile967Thr) n.2984T>C c.1606+1294T>C (n.1606+1294T>C) c.2906T>C (p.Ile969Thr) c.628-2537T>C (n.628-2537T>C) c.2057T>C (p.Ile686Thr) c.2510T>C (p.Ile837Thr) c.169+7312A>G (n.169+7312A>G) c.*124+7111A>G (n.*124+7111A>G) c.*2247T>C (n.*2247T>C) c.1994T>C (p.Ile665Thr) c.2897T>C (p.Ile966Thr) c.-197T>C (n.-197T>C) c.2717T>C (p.Ile906Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800883T>G | CA346756106 | FBXO11,MSH6 | c.2603T>G (p.Ile868Arg) c.2900T>G (p.Ile967Arg) n.2984T>G c.1606+1294T>G (n.1606+1294T>G) c.2906T>G (p.Ile969Arg) c.628-2537T>G (n.628-2537T>G) c.2057T>G (p.Ile686Arg) c.2510T>G (p.Ile837Arg) c.169+7312A>C (n.169+7312A>C) c.*124+7111A>C (n.*124+7111A>C) c.*2247T>G (n.*2247T>G) c.1994T>G (p.Ile665Arg) c.2897T>G (p.Ile966Arg) c.-197T>G (n.-197T>G) c.2717T>G (p.Ile906Arg) | ClinVar dbSNP |
| 2 | g.47800883_47800884delinsGT | CA915943938 | FBXO11,MSH6 | c.2603_2604delinsGT (p.Ile868Ser) c.2900_2901delinsGT (p.Ile967Ser) n.2984_2985delinsGT c.1606+1294_1606+1295delinsGT (n.1606+1294_1606+1295delinsGT) c.2906_2907delinsGT (p.Ile969Ser) c.628-2537_628-2536delinsGT (n.628-2537_628-2536delinsGT) c.2057_2058delinsGT (p.Ile686Ser) c.2510_2511delinsGT (p.Ile837Ser) c.169+7311_169+7312delinsAC (n.169+7311_169+7312delinsAC) c.*124+7110_*124+7111delinsAC (n.*124+7110_*124+7111delinsAC) c.*2247_*2248delinsGT (n.*2247_*2248delinsGT) c.1994_1995delinsGT (p.Ile665Ser) c.2897_2898delinsGT (p.Ile966Ser) c.-197_-196delinsGT (n.-197_-196delinsGT) c.2717_2718delinsGT (p.Ile906Ser) | ClinVar dbSNP |