| 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.47800534_47800590delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT | CA2496049620 | FBXO11,MSH6 | c.2254_2310delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser752=) c.2551_2607delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser851=) n.2635_2691delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT c.1606+945_1606+1001delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (n.1606+945_1606+1001delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT) c.2557_2613delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser853=) c.628-2886_628-2830delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (n.628-2886_628-2830delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT) c.1708_1764delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser570=) c.2161_2217delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser721=) c.169+7605_169+7661delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT (n.169+7605_169+7661delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT) c.*124+7404_*124+7460delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT (n.*124+7404_*124+7460delinsACACATTACTTTGAATCCTTCCAGAGCAGAAAGAAAATCAATAATCTTCTTCTTGCT) c.*1898_*1954delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (n.*1898_*1954delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT) c.1645_1701delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser549=) c.2548_2604delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser850=) c.-546_-490delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (n.-546_-490delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT) c.2368_2424delinsAGCAAGAAGAAGATTATTGATTTTCTTTCTGCTCTGGAAGGATTCAAAGTAATGTGT (p.Ser790=) | |
| 2 | g.47800535_47800590del | CA1139655876 | FBXO11,MSH6 | c.2255_2310del (p.Ser752LysfsTer11) c.2552_2607del (p.Ser851LysfsTer11) n.2636_2691del c.1606+946_1606+1001del (n.1606+946_1606+1001del) c.2558_2613del (p.Ser853LysfsTer11) c.628-2885_628-2830del (n.628-2885_628-2830del) c.1709_1764del (p.Ser570LysfsTer11) c.2162_2217del (p.Ser721LysfsTer11) c.169+7605_169+7660del (n.169+7605_169+7660del) c.*124+7404_*124+7459del (n.*124+7404_*124+7459del) c.*1899_*1954del (n.*1899_*1954del) c.1646_1701del (p.Ser549LysfsTer11) c.2549_2604del (p.Ser850LysfsTer11) c.-545_-490del (n.-545_-490del) c.2369_2424del (p.Ser790LysfsTer11) | ClinVar dbSNP |
| 2 | g.47800544_47800546del | CA010414 | FBXO11,MSH6 | c.2264_2266del (p.Lys755del) c.2561_2563del (p.Lys854del) n.2645_2647del c.1606+955_1606+957del (n.1606+955_1606+957del) c.2567_2569del (p.Lys856del) c.628-2876_628-2874del (n.628-2876_628-2874del) c.1718_1720del (p.Lys573del) c.2171_2173del (p.Lys724del) c.169+7656_169+7658del (n.169+7656_169+7658del) c.*124+7455_*124+7457del (n.*124+7455_*124+7457del) c.*1908_*1910del (n.*1908_*1910del) c.1655_1657del (p.Lys552del) c.2558_2560del (p.Lys853del) c.-536_-534del (n.-536_-534del) c.2378_2380del (p.Lys793del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800543_47800545delinsAAG | CA2496049632 | FBXO11,MSH6 | c.2263_2265delinsAAG (p.Lys755=) c.2560_2562delinsAAG (p.Lys854=) n.2644_2646delinsAAG c.1606+954_1606+956delinsAAG (n.1606+954_1606+956delinsAAG) c.2566_2568delinsAAG (p.Lys856=) c.628-2877_628-2875delinsAAG (n.628-2877_628-2875delinsAAG) c.1717_1719delinsAAG (p.Lys573=) c.2170_2172delinsAAG (p.Lys724=) c.169+7650_169+7652delinsCTT (n.169+7650_169+7652delinsCTT) c.*124+7449_*124+7451delinsCTT (n.*124+7449_*124+7451delinsCTT) c.*1907_*1909delinsAAG (n.*1907_*1909delinsAAG) c.1654_1656delinsAAG (p.Lys552=) c.2557_2559delinsAAG (p.Lys853=) c.-537_-535delinsAAG (n.-537_-535delinsAAG) c.2377_2379delinsAAG (p.Lys793=) | |
| 2 | g.47800544A= | CA2496049637 | FBXO11,MSH6 | c.2264A= (p.Lys755=) c.2561A= (p.Lys854=) n.2645A= c.1606+955A= (n.1606+955A=) c.2567A= (p.Lys856=) c.628-2876A= (n.628-2876A=) c.1718A= (p.Lys573=) c.2171A= (p.Lys724=) c.169+7651T= (n.169+7651T=) c.*124+7450T= (n.*124+7450T=) c.*1908A= (n.*1908A=) c.1655A= (p.Lys552=) c.2558A= (p.Lys853=) c.-536A= (n.-536A=) c.2378A= (p.Lys793=) | |
| 2 | g.47800544A>C | CA346754662 | FBXO11,MSH6 | c.2264A>C (p.Lys755Thr) c.2561A>C (p.Lys854Thr) n.2645A>C c.1606+955A>C (n.1606+955A>C) c.2567A>C (p.Lys856Thr) c.628-2876A>C (n.628-2876A>C) c.1718A>C (p.Lys573Thr) c.2171A>C (p.Lys724Thr) c.169+7651T>G (n.169+7651T>G) c.*124+7450T>G (n.*124+7450T>G) c.*1908A>C (n.*1908A>C) c.1655A>C (p.Lys552Thr) c.2558A>C (p.Lys853Thr) c.-536A>C (n.-536A>C) c.2378A>C (p.Lys793Thr) | |
| 2 | g.47800544A>G | CA346754660 | FBXO11,MSH6 | c.2264A>G (p.Lys755Arg) c.2561A>G (p.Lys854Arg) n.2645A>G c.1606+955A>G (n.1606+955A>G) c.2567A>G (p.Lys856Arg) c.628-2876A>G (n.628-2876A>G) c.1718A>G (p.Lys573Arg) c.2171A>G (p.Lys724Arg) c.169+7651T>C (n.169+7651T>C) c.*124+7450T>C (n.*124+7450T>C) c.*1908A>G (n.*1908A>G) c.1655A>G (p.Lys552Arg) c.2558A>G (p.Lys853Arg) c.-536A>G (n.-536A>G) c.2378A>G (p.Lys793Arg) | dbSNP |
| 2 | g.47800544A>T | CA010423 | FBXO11,MSH6 | c.2264A>T (p.Lys755Met) c.2561A>T (p.Lys854Met) n.2645A>T c.1606+955A>T (n.1606+955A>T) c.2567A>T (p.Lys856Met) c.628-2876A>T (n.628-2876A>T) c.1718A>T (p.Lys573Met) c.2171A>T (p.Lys724Met) c.169+7651T>A (n.169+7651T>A) c.*124+7450T>A (n.*124+7450T>A) c.*1908A>T (n.*1908A>T) c.1655A>T (p.Lys552Met) c.2558A>T (p.Lys853Met) c.-536A>T (n.-536A>T) c.2378A>T (p.Lys793Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800544_47800545delinsAG | CA2496049636 | FBXO11,MSH6 | c.2264_2265delinsAG (p.Lys755=) c.2561_2562delinsAG (p.Lys854=) n.2645_2646delinsAG c.1606+955_1606+956delinsAG (n.1606+955_1606+956delinsAG) c.2567_2568delinsAG (p.Lys856=) c.628-2876_628-2875delinsAG (n.628-2876_628-2875delinsAG) c.1718_1719delinsAG (p.Lys573=) c.2171_2172delinsAG (p.Lys724=) c.169+7650_169+7651delinsCT (n.169+7650_169+7651delinsCT) c.*124+7449_*124+7450delinsCT (n.*124+7449_*124+7450delinsCT) c.*1908_*1909delinsAG (n.*1908_*1909delinsAG) c.1655_1656delinsAG (p.Lys552=) c.2558_2559delinsAG (p.Lys853=) c.-536_-535delinsAG (n.-536_-535delinsAG) c.2378_2379delinsAG (p.Lys793=) | |
| 2 | g.47800544_47800545delinsTT | CA010405 | FBXO11,MSH6 | c.2264_2265delinsTT (p.Lys755Ile) c.2561_2562delinsTT (p.Lys854Ile) n.2645_2646delinsTT c.1606+955_1606+956delinsTT (n.1606+955_1606+956delinsTT) c.2567_2568delinsTT (p.Lys856Ile) c.628-2876_628-2875delinsTT (n.628-2876_628-2875delinsTT) c.1718_1719delinsTT (p.Lys573Ile) c.2171_2172delinsTT (p.Lys724Ile) c.169+7650_169+7651delinsAA (n.169+7650_169+7651delinsAA) c.*124+7449_*124+7450delinsAA (n.*124+7449_*124+7450delinsAA) c.*1908_*1909delinsTT (n.*1908_*1909delinsTT) c.1655_1656delinsTT (p.Lys552Ile) c.2558_2559delinsTT (p.Lys853Ile) c.-536_-535delinsTT (n.-536_-535delinsTT) c.2378_2379delinsTT (p.Lys793Ile) | ClinVar dbSNP |
| 2 | g.47800545_47800546del | CA10577279 | FBXO11,MSH6 | c.2265_2266del (p.Lys755AsnfsTer3) c.2562_2563del (p.Lys854AsnfsTer3) n.2646_2647del c.1606+956_1606+957del (n.1606+956_1606+957del) c.2568_2569del (p.Lys856AsnfsTer3) c.628-2875_628-2874del (n.628-2875_628-2874del) c.1719_1720del (p.Lys573AsnfsTer3) c.2172_2173del (p.Lys724AsnfsTer3) c.169+7650_169+7651del (n.169+7650_169+7651del) c.*124+7449_*124+7450del (n.*124+7449_*124+7450del) c.*1909_*1910del (n.*1909_*1910del) c.1656_1657del (p.Lys552AsnfsTer3) c.2559_2560del (p.Lys853AsnfsTer3) c.-535_-534del (n.-535_-534del) c.2379_2380del (p.Lys793AsnfsTer3) | ClinVar dbSNP |
| 2 | g.47800544_47800551delinsAGATTATT | CA2496049634 | FBXO11,MSH6 | c.2264_2271delinsAGATTATT (p.Lys755=) c.2561_2568delinsAGATTATT (p.Lys854=) n.2645_2652delinsAGATTATT c.1606+955_1606+962delinsAGATTATT (n.1606+955_1606+962delinsAGATTATT) c.2567_2574delinsAGATTATT (p.Lys856=) c.628-2876_628-2869delinsAGATTATT (n.628-2876_628-2869delinsAGATTATT) c.1718_1725delinsAGATTATT (p.Lys573=) c.2171_2178delinsAGATTATT (p.Lys724=) c.169+7644_169+7651delinsAATAATCT (n.169+7644_169+7651delinsAATAATCT) c.*124+7443_*124+7450delinsAATAATCT (n.*124+7443_*124+7450delinsAATAATCT) c.*1908_*1915delinsAGATTATT (n.*1908_*1915delinsAGATTATT) c.1655_1662delinsAGATTATT (p.Lys552=) c.2558_2565delinsAGATTATT (p.Lys853=) c.-536_-529delinsAGATTATT (n.-536_-529delinsAGATTATT) c.2378_2385delinsAGATTATT (p.Lys793=) | |
| 2 | g.47800545G>A | CA426121572 | FBXO11,MSH6 | c.2265G>A (p.Lys755=) c.2562G>A (p.Lys854=) n.2646G>A c.1606+956G>A (n.1606+956G>A) c.2568G>A (p.Lys856=) c.628-2875G>A (n.628-2875G>A) c.1719G>A (p.Lys573=) c.2172G>A (p.Lys724=) c.169+7650C>T (n.169+7650C>T) c.*124+7449C>T (n.*124+7449C>T) c.*1909G>A (n.*1909G>A) c.1656G>A (p.Lys552=) c.2559G>A (p.Lys853=) c.-535G>A (n.-535G>A) c.2379G>A (p.Lys793=) | ClinVar dbSNP |
| 2 | g.47800545G>C | CA10582064 | FBXO11,MSH6 | c.2265G>C (p.Lys755Asn) c.2562G>C (p.Lys854Asn) n.2646G>C c.1606+956G>C (n.1606+956G>C) c.2568G>C (p.Lys856Asn) c.628-2875G>C (n.628-2875G>C) c.1719G>C (p.Lys573Asn) c.2172G>C (p.Lys724Asn) c.169+7650C>G (n.169+7650C>G) c.*124+7449C>G (n.*124+7449C>G) c.*1909G>C (n.*1909G>C) c.1656G>C (p.Lys552Asn) c.2559G>C (p.Lys853Asn) c.-535G>C (n.-535G>C) c.2379G>C (p.Lys793Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800545G= | CA2496049641 | FBXO11,MSH6 | c.2265G= (p.Lys755=) c.2562G= (p.Lys854=) n.2646G= c.1606+956G= (n.1606+956G=) c.2568G= (p.Lys856=) c.628-2875G= (n.628-2875G=) c.1719G= (p.Lys573=) c.2172G= (p.Lys724=) c.169+7650C= (n.169+7650C=) c.*124+7449C= (n.*124+7449C=) c.*1909G= (n.*1909G=) c.1656G= (p.Lys552=) c.2559G= (p.Lys853=) c.-535G= (n.-535G=) c.2379G= (p.Lys793=) | |
| 2 | g.47800545G>T | CA069186 | FBXO11,MSH6 | c.2265G>T (p.Lys755Asn) c.2562G>T (p.Lys854Asn) n.2646G>T c.1606+956G>T (n.1606+956G>T) c.2568G>T (p.Lys856Asn) c.628-2875G>T (n.628-2875G>T) c.1719G>T (p.Lys573Asn) c.2172G>T (p.Lys724Asn) c.169+7650C>A (n.169+7650C>A) c.*124+7449C>A (n.*124+7449C>A) c.*1909G>T (n.*1909G>T) c.1656G>T (p.Lys552Asn) c.2559G>T (p.Lys853Asn) c.-535G>T (n.-535G>T) c.2379G>T (p.Lys793Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800549_47800555del | CA2496049640 | FBXO11,MSH6 | c.2269_2275del (p.Ile757PhefsTer10) c.2566_2572del (p.Ile856PhefsTer10) n.2650_2656del c.1606+960_1606+966del (n.1606+960_1606+966del) c.2572_2578del (p.Ile858PhefsTer10) c.628-2871_628-2865del (n.628-2871_628-2865del) c.1723_1729del (p.Ile575PhefsTer10) c.2176_2182del (p.Ile726PhefsTer10) c.169+7644_169+7650del (n.169+7644_169+7650del) c.*124+7443_*124+7449del (n.*124+7443_*124+7449del) c.*1913_*1919del (n.*1913_*1919del) c.1660_1666del (p.Ile554PhefsTer10) c.2563_2569del (p.Ile855PhefsTer10) c.-531_-525del (n.-531_-525del) c.2383_2389del (p.Ile795PhefsTer10) | ClinVar dbSNP |
| 2 | g.47800546A>C | CA346754670 | FBXO11,MSH6 | c.2266A>C (p.Ile756Leu) c.2563A>C (p.Ile855Leu) n.2647A>C c.1606+957A>C (n.1606+957A>C) c.2569A>C (p.Ile857Leu) c.628-2874A>C (n.628-2874A>C) c.1720A>C (p.Ile574Leu) c.2173A>C (p.Ile725Leu) c.169+7649T>G (n.169+7649T>G) c.*124+7448T>G (n.*124+7448T>G) c.*1910A>C (n.*1910A>C) c.1657A>C (p.Ile553Leu) c.2560A>C (p.Ile854Leu) c.-534A>C (n.-534A>C) c.2380A>C (p.Ile794Leu) | |
| 2 | g.47800546A>G | CA346754674 | FBXO11,MSH6 | c.2266A>G (p.Ile756Val) c.2563A>G (p.Ile855Val) n.2647A>G c.1606+957A>G (n.1606+957A>G) c.2569A>G (p.Ile857Val) c.628-2874A>G (n.628-2874A>G) c.1720A>G (p.Ile574Val) c.2173A>G (p.Ile725Val) c.169+7649T>C (n.169+7649T>C) c.*124+7448T>C (n.*124+7448T>C) c.*1910A>G (n.*1910A>G) c.1657A>G (p.Ile553Val) c.2560A>G (p.Ile854Val) c.-534A>G (n.-534A>G) c.2380A>G (p.Ile794Val) | |
| 2 | g.47800546A>T | CA346754680 | FBXO11,MSH6 | c.2266A>T (p.Ile756Phe) c.2563A>T (p.Ile855Phe) n.2647A>T c.1606+957A>T (n.1606+957A>T) c.2569A>T (p.Ile857Phe) c.628-2874A>T (n.628-2874A>T) c.1720A>T (p.Ile574Phe) c.2173A>T (p.Ile725Phe) c.169+7649T>A (n.169+7649T>A) c.*124+7448T>A (n.*124+7448T>A) c.*1910A>T (n.*1910A>T) c.1657A>T (p.Ile553Phe) c.2560A>T (p.Ile854Phe) c.-534A>T (n.-534A>T) c.2380A>T (p.Ile794Phe) | |
| 2 | g.47800546_47800547delinsAT | CA2496049643 | FBXO11,MSH6 | c.2266_2267delinsAT (p.Ile756=) c.2563_2564delinsAT (p.Ile855=) n.2647_2648delinsAT c.1606+957_1606+958delinsAT (n.1606+957_1606+958delinsAT) c.2569_2570delinsAT (p.Ile857=) c.628-2874_628-2873delinsAT (n.628-2874_628-2873delinsAT) c.1720_1721delinsAT (p.Ile574=) c.2173_2174delinsAT (p.Ile725=) c.169+7648_169+7649delinsAT (n.169+7648_169+7649delinsAT) c.*124+7447_*124+7448delinsAT (n.*124+7447_*124+7448delinsAT) c.*1910_*1911delinsAT (n.*1910_*1911delinsAT) c.1657_1658delinsAT (p.Ile553=) c.2560_2561delinsAT (p.Ile854=) c.-534_-533delinsAT (n.-534_-533delinsAT) c.2380_2381delinsAT (p.Ile794=) | |
| 2 | g.47800547T>A | CA346754684 | FBXO11,MSH6 | c.2267T>A (p.Ile756Asn) c.2564T>A (p.Ile855Asn) n.2648T>A c.1606+958T>A (n.1606+958T>A) c.2570T>A (p.Ile857Asn) c.628-2873T>A (n.628-2873T>A) c.1721T>A (p.Ile574Asn) c.2174T>A (p.Ile725Asn) c.169+7648A>T (n.169+7648A>T) c.*124+7447A>T (n.*124+7447A>T) c.*1911T>A (n.*1911T>A) c.1658T>A (p.Ile553Asn) c.2561T>A (p.Ile854Asn) c.-533T>A (n.-533T>A) c.2381T>A (p.Ile794Asn) | dbSNP |
| 2 | g.47800547T>C | CA346754687 | FBXO11,MSH6 | c.2267T>C (p.Ile756Thr) c.2564T>C (p.Ile855Thr) n.2648T>C c.1606+958T>C (n.1606+958T>C) c.2570T>C (p.Ile857Thr) c.628-2873T>C (n.628-2873T>C) c.1721T>C (p.Ile574Thr) c.2174T>C (p.Ile725Thr) c.169+7648A>G (n.169+7648A>G) c.*124+7447A>G (n.*124+7447A>G) c.*1911T>C (n.*1911T>C) c.1658T>C (p.Ile553Thr) c.2561T>C (p.Ile854Thr) c.-533T>C (n.-533T>C) c.2381T>C (p.Ile794Thr) | |
| 2 | g.47800547T>G | CA346754689 | FBXO11,MSH6 | c.2267T>G (p.Ile756Ser) c.2564T>G (p.Ile855Ser) n.2648T>G c.1606+958T>G (n.1606+958T>G) c.2570T>G (p.Ile857Ser) c.628-2873T>G (n.628-2873T>G) c.1721T>G (p.Ile574Ser) c.2174T>G (p.Ile725Ser) c.169+7648A>C (n.169+7648A>C) c.*124+7447A>C (n.*124+7447A>C) c.*1911T>G (n.*1911T>G) c.1658T>G (p.Ile553Ser) c.2561T>G (p.Ile854Ser) c.-533T>G (n.-533T>G) c.2381T>G (p.Ile794Ser) | dbSNP |
| 2 | g.47800548del | CA069191 | FBXO11,MSH6 | c.2268del (p.Ile757LeufsTer12) c.2565del (p.Ile856LeufsTer12) n.2649del c.1606+959del (n.1606+959del) c.2571del (p.Ile858LeufsTer12) c.628-2872del (n.628-2872del) c.1722del (p.Ile575LeufsTer12) c.2175del (p.Ile726LeufsTer12) c.169+7648del (n.169+7648del) c.*124+7447del (n.*124+7447del) c.*1912del (n.*1912del) c.1659del (p.Ile554LeufsTer12) c.2562del (p.Ile855LeufsTer12) c.-532del (n.-532del) c.2382del (p.Ile795LeufsTer12) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.47800548_47800551del | CA2580067950 | FBXO11,MSH6 | c.2268_2271del (p.Ile756MetfsTer12) c.2565_2568del (p.Ile855MetfsTer12) n.2649_2652del c.1606+959_1606+962del (n.1606+959_1606+962del) c.2571_2574del (p.Ile857MetfsTer12) c.628-2872_628-2869del (n.628-2872_628-2869del) c.1722_1725del (p.Ile574MetfsTer12) c.2175_2178del (p.Ile725MetfsTer12) c.169+7645_169+7648del (n.169+7645_169+7648del) c.*124+7444_*124+7447del (n.*124+7444_*124+7447del) c.*1912_*1915del (n.*1912_*1915del) c.1659_1662del (p.Ile553MetfsTer12) c.2562_2565del (p.Ile854MetfsTer12) c.-532_-529del (n.-532_-529del) c.2382_2385del (p.Ile794MetfsTer12) | ClinVar |
| 2 | g.47800548T>A | CA426121577 | FBXO11,MSH6 | c.2268T>A (p.Ile756=) c.2565T>A (p.Ile855=) n.2649T>A c.1606+959T>A (n.1606+959T>A) c.2571T>A (p.Ile857=) c.628-2872T>A (n.628-2872T>A) c.1722T>A (p.Ile574=) c.2175T>A (p.Ile725=) c.169+7647A>T (n.169+7647A>T) c.*124+7446A>T (n.*124+7446A>T) c.*1912T>A (n.*1912T>A) c.1659T>A (p.Ile553=) c.2562T>A (p.Ile854=) c.-532T>A (n.-532T>A) c.2382T>A (p.Ile794=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800548T>C | CA426121576 | FBXO11,MSH6 | c.2268T>C (p.Ile756=) c.2565T>C (p.Ile855=) n.2649T>C c.1606+959T>C (n.1606+959T>C) c.2571T>C (p.Ile857=) c.628-2872T>C (n.628-2872T>C) c.1722T>C (p.Ile574=) c.2175T>C (p.Ile725=) c.169+7647A>G (n.169+7647A>G) c.*124+7446A>G (n.*124+7446A>G) c.*1912T>C (n.*1912T>C) c.1659T>C (p.Ile553=) c.2562T>C (p.Ile854=) c.-532T>C (n.-532T>C) c.2382T>C (p.Ile794=) | |
| 2 | g.47800548T>G | CA16617676 | FBXO11,MSH6 | c.2268T>G (p.Ile756Met) c.2565T>G (p.Ile855Met) n.2649T>G c.1606+959T>G (n.1606+959T>G) c.2571T>G (p.Ile857Met) c.628-2872T>G (n.628-2872T>G) c.1722T>G (p.Ile574Met) c.2175T>G (p.Ile725Met) c.169+7647A>C (n.169+7647A>C) c.*124+7446A>C (n.*124+7446A>C) c.*1912T>G (n.*1912T>G) c.1659T>G (p.Ile553Met) c.2562T>G (p.Ile854Met) c.-532T>G (n.-532T>G) c.2382T>G (p.Ile794Met) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800548T= | CA2496049645 | FBXO11,MSH6 | c.2268T= (p.Ile756=) c.2565T= (p.Ile855=) n.2649T= c.1606+959T= (n.1606+959T=) c.2571T= (p.Ile857=) c.628-2872T= (n.628-2872T=) c.1722T= (p.Ile574=) c.2175T= (p.Ile725=) c.169+7647A= (n.169+7647A=) c.*124+7446A= (n.*124+7446A=) c.*1912T= (n.*1912T=) c.1659T= (p.Ile553=) c.2562T= (p.Ile854=) c.-532T= (n.-532T=) c.2382T= (p.Ile794=) | |
| 2 | g.47800548_47800552delinsTATTG | CA2496049646 | FBXO11,MSH6 | c.2268_2272delinsTATTG (p.Ile756=) c.2565_2569delinsTATTG (p.Ile855=) n.2649_2653delinsTATTG c.1606+959_1606+963delinsTATTG (n.1606+959_1606+963delinsTATTG) c.2571_2575delinsTATTG (p.Ile857=) c.628-2872_628-2868delinsTATTG (n.628-2872_628-2868delinsTATTG) c.1722_1726delinsTATTG (p.Ile574=) c.2175_2179delinsTATTG (p.Ile725=) c.169+7643_169+7647delinsCAATA (n.169+7643_169+7647delinsCAATA) c.*124+7442_*124+7446delinsCAATA (n.*124+7442_*124+7446delinsCAATA) c.*1912_*1916delinsTATTG (n.*1912_*1916delinsTATTG) c.1659_1663delinsTATTG (p.Ile553=) c.2562_2566delinsTATTG (p.Ile854=) c.-532_-528delinsTATTG (n.-532_-528delinsTATTG) c.2382_2386delinsTATTG (p.Ile794=) | |
| 2 | g.47800549A= | CA2496049648 | FBXO11,MSH6 | c.2269A= (p.Ile757=) c.2566A= (p.Ile856=) n.2650A= c.1606+960A= (n.1606+960A=) c.2572A= (p.Ile858=) c.628-2871A= (n.628-2871A=) c.1723A= (p.Ile575=) c.2176A= (p.Ile726=) c.169+7646T= (n.169+7646T=) c.*124+7445T= (n.*124+7445T=) c.*1913A= (n.*1913A=) c.1660A= (p.Ile554=) c.2563A= (p.Ile855=) c.-531A= (n.-531A=) c.2383A= (p.Ile795=) | |
| 2 | g.47800549A>C | CA346754700 | FBXO11,MSH6 | c.2269A>C (p.Ile757Leu) c.2566A>C (p.Ile856Leu) n.2650A>C c.1606+960A>C (n.1606+960A>C) c.2572A>C (p.Ile858Leu) c.628-2871A>C (n.628-2871A>C) c.1723A>C (p.Ile575Leu) c.2176A>C (p.Ile726Leu) c.169+7646T>G (n.169+7646T>G) c.*124+7445T>G (n.*124+7445T>G) c.*1913A>C (n.*1913A>C) c.1660A>C (p.Ile554Leu) c.2563A>C (p.Ile855Leu) c.-531A>C (n.-531A>C) c.2383A>C (p.Ile795Leu) | |
| 2 | g.47800549A>G | CA346754699 | FBXO11,MSH6 | c.2269A>G (p.Ile757Val) c.2566A>G (p.Ile856Val) n.2650A>G c.1606+960A>G (n.1606+960A>G) c.2572A>G (p.Ile858Val) c.628-2871A>G (n.628-2871A>G) c.1723A>G (p.Ile575Val) c.2176A>G (p.Ile726Val) c.169+7646T>C (n.169+7646T>C) c.*124+7445T>C (n.*124+7445T>C) c.*1913A>G (n.*1913A>G) c.1660A>G (p.Ile554Val) c.2563A>G (p.Ile855Val) c.-531A>G (n.-531A>G) c.2383A>G (p.Ile795Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47800549A>T | CA069195 | FBXO11,MSH6 | c.2269A>T (p.Ile757Phe) c.2566A>T (p.Ile856Phe) n.2650A>T c.1606+960A>T (n.1606+960A>T) c.2572A>T (p.Ile858Phe) c.628-2871A>T (n.628-2871A>T) c.1723A>T (p.Ile575Phe) c.2176A>T (p.Ile726Phe) c.169+7646T>A (n.169+7646T>A) c.*124+7445T>A (n.*124+7445T>A) c.*1913A>T (n.*1913A>T) c.1660A>T (p.Ile554Phe) c.2563A>T (p.Ile855Phe) c.-531A>T (n.-531A>T) c.2383A>T (p.Ile795Phe) | ClinVar dbSNP ExAC gnomAD v4 |
| 2 | g.47800552_47800555del | CA010436 | FBXO11,MSH6 | c.2272_2275del (p.Asp758PhefsTer10) c.2569_2572del (p.Asp857PhefsTer10) n.2653_2656del c.1606+963_1606+966del (n.1606+963_1606+966del) c.2575_2578del (p.Asp859PhefsTer10) c.628-2868_628-2865del (n.628-2868_628-2865del) c.1726_1729del (p.Asp576PhefsTer10) c.2179_2182del (p.Asp727PhefsTer10) c.169+7643_169+7646del (n.169+7643_169+7646del) c.*124+7442_*124+7445del (n.*124+7442_*124+7445del) c.*1916_*1919del (n.*1916_*1919del) c.1663_1666del (p.Asp555PhefsTer10) c.2566_2569del (p.Asp856PhefsTer10) c.-528_-525del (n.-528_-525del) c.2386_2389del (p.Asp796PhefsTer10) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800550T>A | CA346754703 | FBXO11,MSH6 | c.2270T>A (p.Ile757Asn) c.2567T>A (p.Ile856Asn) n.2651T>A c.1606+961T>A (n.1606+961T>A) c.2573T>A (p.Ile858Asn) c.628-2870T>A (n.628-2870T>A) c.1724T>A (p.Ile575Asn) c.2177T>A (p.Ile726Asn) c.169+7645A>T (n.169+7645A>T) c.*124+7444A>T (n.*124+7444A>T) c.*1914T>A (n.*1914T>A) c.1661T>A (p.Ile554Asn) c.2564T>A (p.Ile855Asn) c.-530T>A (n.-530T>A) c.2384T>A (p.Ile795Asn) | dbSNP |
| 2 | g.47800550T>C | CA16617677 | FBXO11,MSH6 | c.2270T>C (p.Ile757Thr) c.2567T>C (p.Ile856Thr) n.2651T>C c.1606+961T>C (n.1606+961T>C) c.2573T>C (p.Ile858Thr) c.628-2870T>C (n.628-2870T>C) c.1724T>C (p.Ile575Thr) c.2177T>C (p.Ile726Thr) c.169+7645A>G (n.169+7645A>G) c.*124+7444A>G (n.*124+7444A>G) c.*1914T>C (n.*1914T>C) c.1661T>C (p.Ile554Thr) c.2564T>C (p.Ile855Thr) c.-530T>C (n.-530T>C) c.2384T>C (p.Ile795Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800550T>G | CA346754707 | FBXO11,MSH6 | c.2270T>G (p.Ile757Ser) c.2567T>G (p.Ile856Ser) n.2651T>G c.1606+961T>G (n.1606+961T>G) c.2573T>G (p.Ile858Ser) c.628-2870T>G (n.628-2870T>G) c.1724T>G (p.Ile575Ser) c.2177T>G (p.Ile726Ser) c.169+7645A>C (n.169+7645A>C) c.*124+7444A>C (n.*124+7444A>C) c.*1914T>G (n.*1914T>G) c.1661T>G (p.Ile554Ser) c.2564T>G (p.Ile855Ser) c.-530T>G (n.-530T>G) c.2384T>G (p.Ile795Ser) | dbSNP |
| 2 | g.47800550T= | CA2496049649 | FBXO11,MSH6 | c.2270T= (p.Ile757=) c.2567T= (p.Ile856=) n.2651T= c.1606+961T= (n.1606+961T=) c.2573T= (p.Ile858=) c.628-2870T= (n.628-2870T=) c.1724T= (p.Ile575=) c.2177T= (p.Ile726=) c.169+7645A= (n.169+7645A=) c.*124+7444A= (n.*124+7444A=) c.*1914T= (n.*1914T=) c.1661T= (p.Ile554=) c.2564T= (p.Ile855=) c.-530T= (n.-530T=) c.2384T= (p.Ile795=) | |
| 2 | g.47800551T>A | CA426121579 | FBXO11,MSH6 | c.2271T>A (p.Ile757=) c.2568T>A (p.Ile856=) n.2652T>A c.1606+962T>A (n.1606+962T>A) c.2574T>A (p.Ile858=) c.628-2869T>A (n.628-2869T>A) c.1725T>A (p.Ile575=) c.2178T>A (p.Ile726=) c.169+7644A>T (n.169+7644A>T) c.*124+7443A>T (n.*124+7443A>T) c.*1915T>A (n.*1915T>A) c.1662T>A (p.Ile554=) c.2565T>A (p.Ile855=) c.-529T>A (n.-529T>A) c.2385T>A (p.Ile795=) | dbSNP |
| 2 | g.47800551T>C | CA426121580 | FBXO11,MSH6 | c.2271T>C (p.Ile757=) c.2568T>C (p.Ile856=) n.2652T>C c.1606+962T>C (n.1606+962T>C) c.2574T>C (p.Ile858=) c.628-2869T>C (n.628-2869T>C) c.1725T>C (p.Ile575=) c.2178T>C (p.Ile726=) c.169+7644A>G (n.169+7644A>G) c.*124+7443A>G (n.*124+7443A>G) c.*1915T>C (n.*1915T>C) c.1662T>C (p.Ile554=) c.2565T>C (p.Ile855=) c.-529T>C (n.-529T>C) c.2385T>C (p.Ile795=) | dbSNP gnomAD v2 |
| 2 | g.47800551T>G | CA346754711 | FBXO11,MSH6 | c.2271T>G (p.Ile757Met) c.2568T>G (p.Ile856Met) n.2652T>G c.1606+962T>G (n.1606+962T>G) c.2574T>G (p.Ile858Met) c.628-2869T>G (n.628-2869T>G) c.1725T>G (p.Ile575Met) c.2178T>G (p.Ile726Met) c.169+7644A>C (n.169+7644A>C) c.*124+7443A>C (n.*124+7443A>C) c.*1915T>G (n.*1915T>G) c.1662T>G (p.Ile554Met) c.2565T>G (p.Ile855Met) c.-529T>G (n.-529T>G) c.2385T>G (p.Ile795Met) | ClinVar |
| 2 | g.47800551T= | CA2496049651 | FBXO11,MSH6 | c.2271T= (p.Ile757=) c.2568T= (p.Ile856=) n.2652T= c.1606+962T= (n.1606+962T=) c.2574T= (p.Ile858=) c.628-2869T= (n.628-2869T=) c.1725T= (p.Ile575=) c.2178T= (p.Ile726=) c.169+7644A= (n.169+7644A=) c.*124+7443A= (n.*124+7443A=) c.*1915T= (n.*1915T=) c.1662T= (p.Ile554=) c.2565T= (p.Ile855=) c.-529T= (n.-529T=) c.2385T= (p.Ile795=) | |
| 2 | g.47800552del | CA2580067951 | FBXO11,MSH6 | c.2272del (p.Asp758IlefsTer11) c.2569del (p.Asp857IlefsTer11) n.2653del c.1606+963del (n.1606+963del) c.2575del (p.Asp859IlefsTer11) c.628-2868del (n.628-2868del) c.1726del (p.Asp576IlefsTer11) c.2179del (p.Asp727IlefsTer11) c.169+7643del (n.169+7643del) c.*124+7442del (n.*124+7442del) c.*1916del (n.*1916del) c.1663del (p.Asp555IlefsTer11) c.2566del (p.Asp856IlefsTer11) c.-528del (n.-528del) c.2386del (p.Asp796IlefsTer11) | ClinVar |
| 2 | g.47800552G>A | CA069199 | FBXO11,MSH6 | c.2272G>A (p.Asp758Asn) c.2569G>A (p.Asp857Asn) n.2653G>A c.1606+963G>A (n.1606+963G>A) c.2575G>A (p.Asp859Asn) c.628-2868G>A (n.628-2868G>A) c.1726G>A (p.Asp576Asn) c.2179G>A (p.Asp727Asn) c.169+7643C>T (n.169+7643C>T) c.*124+7442C>T (n.*124+7442C>T) c.*1916G>A (n.*1916G>A) c.1663G>A (p.Asp555Asn) c.2566G>A (p.Asp856Asn) c.-528G>A (n.-528G>A) c.2386G>A (p.Asp796Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.47800552G>C | CA346754718 | FBXO11,MSH6 | c.2272G>C (p.Asp758His) c.2569G>C (p.Asp857His) n.2653G>C c.1606+963G>C (n.1606+963G>C) c.2575G>C (p.Asp859His) c.628-2868G>C (n.628-2868G>C) c.1726G>C (p.Asp576His) c.2179G>C (p.Asp727His) c.169+7643C>G (n.169+7643C>G) c.*124+7442C>G (n.*124+7442C>G) c.*1916G>C (n.*1916G>C) c.1663G>C (p.Asp555His) c.2566G>C (p.Asp856His) c.-528G>C (n.-528G>C) c.2386G>C (p.Asp796His) | ClinVar dbSNP |