Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47795896_47805709delCA658655622FBXO11,MSH6c.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
2g.47799557_47804482dupCA10575504FBXO11,MSH6c.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
2g.47799955_47804552delCA1139655753FBXO11,MSH6c.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
2g.47800782dupCA2573135016FBXO11,MSH6c.2502dup (p.Asp835Ter)
c.2799dup (p.Asp934Ter)
n.2883dup
c.1606+1193dup (n.1606+1193dup)
c.2805dup (p.Asp936Ter)
c.628-2638dup (n.628-2638dup)
c.1956dup (p.Asp653Ter)
c.2409dup (p.Asp804Ter)
c.169+7415dup (n.169+7415dup)
c.*124+7214dup (n.*124+7214dup)
c.*2146dup (n.*2146dup)
c.1893dup (p.Asp632Ter)
c.2796dup (p.Asp933Ter)
c.-298dup (n.-298dup)
c.2616dup (p.Asp873Ter)
 ClinVar dbSNP
2g.47800781_47800793delinsTTGACTCTGATTACA2496049850FBXO11,MSH6c.2501_2513delinsTTGACTCTGATTA (p.Phe834=)
c.2798_2810delinsTTGACTCTGATTA (p.Phe933=)
n.2882_2894delinsTTGACTCTGATTA
c.1606+1192_1606+1204delinsTTGACTCTGATTA (n.1606+1192_1606+1204delinsTTGACTCTGATTA)
c.2804_2816delinsTTGACTCTGATTA (p.Phe935=)
c.628-2639_628-2627delinsTTGACTCTGATTA (n.628-2639_628-2627delinsTTGACTCTGATTA)
c.1955_1967delinsTTGACTCTGATTA (p.Phe652=)
c.2408_2420delinsTTGACTCTGATTA (p.Phe803=)
c.169+7402_169+7414delinsTAATCAGAGTCAA (n.169+7402_169+7414delinsTAATCAGAGTCAA)
c.*124+7201_*124+7213delinsTAATCAGAGTCAA (n.*124+7201_*124+7213delinsTAATCAGAGTCAA)
c.*2145_*2157delinsTTGACTCTGATTA (n.*2145_*2157delinsTTGACTCTGATTA)
c.1892_1904delinsTTGACTCTGATTA (p.Phe631=)
c.2795_2807delinsTTGACTCTGATTA (p.Phe932=)
c.-299_-287delinsTTGACTCTGATTA (n.-299_-287delinsTTGACTCTGATTA)
c.2615_2627delinsTTGACTCTGATTA (p.Phe872=)
2g.47800782T>ACA346755572FBXO11,MSH6c.2502T>A (p.Phe834Leu)
c.2799T>A (p.Phe933Leu)
n.2883T>A
c.1606+1193T>A (n.1606+1193T>A)
c.2805T>A (p.Phe935Leu)
c.628-2638T>A (n.628-2638T>A)
c.1956T>A (p.Phe652Leu)
c.2409T>A (p.Phe803Leu)
c.169+7413A>T (n.169+7413A>T)
c.*124+7212A>T (n.*124+7212A>T)
c.*2146T>A (n.*2146T>A)
c.1893T>A (p.Phe631Leu)
c.2796T>A (p.Phe932Leu)
c.-298T>A (n.-298T>A)
c.2616T>A (p.Phe872Leu)
 dbSNP
2g.47800782T>CCA069648FBXO11,MSH6c.2502T>C (p.Phe834=)
c.2799T>C (p.Phe933=)
n.2883T>C
c.1606+1193T>C (n.1606+1193T>C)
c.2805T>C (p.Phe935=)
c.628-2638T>C (n.628-2638T>C)
c.1956T>C (p.Phe652=)
c.2409T>C (p.Phe803=)
c.169+7413A>G (n.169+7413A>G)
c.*124+7212A>G (n.*124+7212A>G)
c.*2146T>C (n.*2146T>C)
c.1893T>C (p.Phe631=)
c.2796T>C (p.Phe932=)
c.-298T>C (n.-298T>C)
c.2616T>C (p.Phe872=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800782T>GCA346755573FBXO11,MSH6c.2502T>G (p.Phe834Leu)
c.2799T>G (p.Phe933Leu)
n.2883T>G
c.1606+1193T>G (n.1606+1193T>G)
c.2805T>G (p.Phe935Leu)
c.628-2638T>G (n.628-2638T>G)
c.1956T>G (p.Phe652Leu)
c.2409T>G (p.Phe803Leu)
c.169+7413A>C (n.169+7413A>C)
c.*124+7212A>C (n.*124+7212A>C)
c.*2146T>G (n.*2146T>G)
c.1893T>G (p.Phe631Leu)
c.2796T>G (p.Phe932Leu)
c.-298T>G (n.-298T>G)
c.2616T>G (p.Phe872Leu)
2g.47800782T=CA2496049851FBXO11,MSH6c.2502T= (p.Phe834=)
c.2799T= (p.Phe933=)
n.2883T=
c.1606+1193T= (n.1606+1193T=)
c.2805T= (p.Phe935=)
c.628-2638T= (n.628-2638T=)
c.1956T= (p.Phe652=)
c.2409T= (p.Phe803=)
c.169+7413A= (n.169+7413A=)
c.*124+7212A= (n.*124+7212A=)
c.*2146T= (n.*2146T=)
c.1893T= (p.Phe631=)
c.2796T= (p.Phe932=)
c.-298T= (n.-298T=)
c.2616T= (p.Phe872=)
2g.47800786_47800797delCA913187451FBXO11,MSH6c.2506_2517del (p.Ser836_Asp839del)
c.2803_2814del (p.Ser935_Asp938del)
n.2887_2898del
c.1606+1197_1606+1208del (n.1606+1197_1606+1208del)
c.2809_2820del (p.Ser937_Asp940del)
c.628-2634_628-2623del (n.628-2634_628-2623del)
c.1960_1971del (p.Ser654_Asp657del)
c.2413_2424del (p.Ser805_Asp808del)
c.169+7402_169+7413del (n.169+7402_169+7413del)
c.*124+7201_*124+7212del (n.*124+7201_*124+7212del)
c.*2150_*2161del (n.*2150_*2161del)
c.1897_1908del (p.Ser633_Asp636del)
c.2800_2811del (p.Ser934_Asp937del)
c.-294_-283del (n.-294_-283del)
c.2620_2631del (p.Ser874_Asp877del)
 dbSNP
2g.47800783G>ACA346755574FBXO11,MSH6c.2503G>A (p.Asp835Asn)
c.2800G>A (p.Asp934Asn)
n.2884G>A
c.1606+1194G>A (n.1606+1194G>A)
c.2806G>A (p.Asp936Asn)
c.628-2637G>A (n.628-2637G>A)
c.1957G>A (p.Asp653Asn)
c.2410G>A (p.Asp804Asn)
c.169+7412C>T (n.169+7412C>T)
c.*124+7211C>T (n.*124+7211C>T)
c.*2147G>A (n.*2147G>A)
c.1894G>A (p.Asp632Asn)
c.2797G>A (p.Asp933Asn)
c.-297G>A (n.-297G>A)
c.2617G>A (p.Asp873Asn)
 ClinVar dbSNP gnomAD v4
2g.47800783G>CCA346755576FBXO11,MSH6c.2503G>C (p.Asp835His)
c.2800G>C (p.Asp934His)
n.2884G>C
c.1606+1194G>C (n.1606+1194G>C)
c.2806G>C (p.Asp936His)
c.628-2637G>C (n.628-2637G>C)
c.1957G>C (p.Asp653His)
c.2410G>C (p.Asp804His)
c.169+7412C>G (n.169+7412C>G)
c.*124+7211C>G (n.*124+7211C>G)
c.*2147G>C (n.*2147G>C)
c.1894G>C (p.Asp632His)
c.2797G>C (p.Asp933His)
c.-297G>C (n.-297G>C)
c.2617G>C (p.Asp873His)
 ClinVar dbSNP
2g.47800783G>TCA346755578FBXO11,MSH6c.2503G>T (p.Asp835Tyr)
c.2800G>T (p.Asp934Tyr)
n.2884G>T
c.1606+1194G>T (n.1606+1194G>T)
c.2806G>T (p.Asp936Tyr)
c.628-2637G>T (n.628-2637G>T)
c.1957G>T (p.Asp653Tyr)
c.2410G>T (p.Asp804Tyr)
c.169+7412C>A (n.169+7412C>A)
c.*124+7211C>A (n.*124+7211C>A)
c.*2147G>T (n.*2147G>T)
c.1894G>T (p.Asp632Tyr)
c.2797G>T (p.Asp933Tyr)
c.-297G>T (n.-297G>T)
c.2617G>T (p.Asp873Tyr)
 dbSNP gnomAD v4
2g.47800783dupCA2580068071FBXO11,MSH6c.2503dup (p.Asp835GlyfsTer3)
c.2800dup (p.Asp934GlyfsTer3)
n.2884dup
c.1606+1194dup (n.1606+1194dup)
c.2806dup (p.Asp936GlyfsTer3)
c.628-2637dup (n.628-2637dup)
c.1957dup (p.Asp653GlyfsTer3)
c.2410dup (p.Asp804GlyfsTer3)
c.169+7412dup (n.169+7412dup)
c.*124+7211dup (n.*124+7211dup)
c.*2147dup (n.*2147dup)
c.1894dup (p.Asp632GlyfsTer3)
c.2797dup (p.Asp933GlyfsTer3)
c.-297dup (n.-297dup)
c.2617dup (p.Asp873GlyfsTer3)
 ClinVar
2g.47800784A>CCA346755584FBXO11,MSH6c.2504A>C (p.Asp835Ala)
c.2801A>C (p.Asp934Ala)
n.2885A>C
c.1606+1195A>C (n.1606+1195A>C)
c.2807A>C (p.Asp936Ala)
c.628-2636A>C (n.628-2636A>C)
c.1958A>C (p.Asp653Ala)
c.2411A>C (p.Asp804Ala)
c.169+7411T>G (n.169+7411T>G)
c.*124+7210T>G (n.*124+7210T>G)
c.*2148A>C (n.*2148A>C)
c.1895A>C (p.Asp632Ala)
c.2798A>C (p.Asp933Ala)
c.-296A>C (n.-296A>C)
c.2618A>C (p.Asp873Ala)
2g.47800784A>GCA346755581FBXO11,MSH6c.2504A>G (p.Asp835Gly)
c.2801A>G (p.Asp934Gly)
n.2885A>G
c.1606+1195A>G (n.1606+1195A>G)
c.2807A>G (p.Asp936Gly)
c.628-2636A>G (n.628-2636A>G)
c.1958A>G (p.Asp653Gly)
c.2411A>G (p.Asp804Gly)
c.169+7411T>C (n.169+7411T>C)
c.*124+7210T>C (n.*124+7210T>C)
c.*2148A>G (n.*2148A>G)
c.1895A>G (p.Asp632Gly)
c.2798A>G (p.Asp933Gly)
c.-296A>G (n.-296A>G)
c.2618A>G (p.Asp873Gly)
 ClinVar dbSNP
2g.47800784A>TCA346755583FBXO11,MSH6c.2504A>T (p.Asp835Val)
c.2801A>T (p.Asp934Val)
n.2885A>T
c.1606+1195A>T (n.1606+1195A>T)
c.2807A>T (p.Asp936Val)
c.628-2636A>T (n.628-2636A>T)
c.1958A>T (p.Asp653Val)
c.2411A>T (p.Asp804Val)
c.169+7411T>A (n.169+7411T>A)
c.*124+7210T>A (n.*124+7210T>A)
c.*2148A>T (n.*2148A>T)
c.1895A>T (p.Asp632Val)
c.2798A>T (p.Asp933Val)
c.-296A>T (n.-296A>T)
c.2618A>T (p.Asp873Val)
2g.47800784_47800786delinsACTCA2496049852FBXO11,MSH6c.2504_2506delinsACT (p.Asp835=)
c.2801_2803delinsACT (p.Asp934=)
n.2885_2887delinsACT
c.1606+1195_1606+1197delinsACT (n.1606+1195_1606+1197delinsACT)
c.2807_2809delinsACT (p.Asp936=)
c.628-2636_628-2634delinsACT (n.628-2636_628-2634delinsACT)
c.1958_1960delinsACT (p.Asp653=)
c.2411_2413delinsACT (p.Asp804=)
c.169+7409_169+7411delinsAGT (n.169+7409_169+7411delinsAGT)
c.*124+7208_*124+7210delinsAGT (n.*124+7208_*124+7210delinsAGT)
c.*2148_*2150delinsACT (n.*2148_*2150delinsACT)
c.1895_1897delinsACT (p.Asp632=)
c.2798_2800delinsACT (p.Asp933=)
c.-296_-294delinsACT (n.-296_-294delinsACT)
c.2618_2620delinsACT (p.Asp873=)
2g.47800785C>ACA346755586FBXO11,MSH6c.2505C>A (p.Asp835Glu)
c.2802C>A (p.Asp934Glu)
n.2886C>A
c.1606+1196C>A (n.1606+1196C>A)
c.2808C>A (p.Asp936Glu)
c.628-2635C>A (n.628-2635C>A)
c.1959C>A (p.Asp653Glu)
c.2412C>A (p.Asp804Glu)
c.169+7410G>T (n.169+7410G>T)
c.*124+7209G>T (n.*124+7209G>T)
c.*2149C>A (n.*2149C>A)
c.1896C>A (p.Asp632Glu)
c.2799C>A (p.Asp933Glu)
c.-295C>A (n.-295C>A)
c.2619C>A (p.Asp873Glu)
 dbSNP
2g.47800785C=CA2496049853FBXO11,MSH6c.2505C= (p.Asp835=)
c.2802C= (p.Asp934=)
n.2886C=
c.1606+1196C= (n.1606+1196C=)
c.2808C= (p.Asp936=)
c.628-2635C= (n.628-2635C=)
c.1959C= (p.Asp653=)
c.2412C= (p.Asp804=)
c.169+7410G= (n.169+7410G=)
c.*124+7209G= (n.*124+7209G=)
c.*2149C= (n.*2149C=)
c.1896C= (p.Asp632=)
c.2799C= (p.Asp933=)
c.-295C= (n.-295C=)
c.2619C= (p.Asp873=)
2g.47800785C>GCA346755588FBXO11,MSH6c.2505C>G (p.Asp835Glu)
c.2802C>G (p.Asp934Glu)
n.2886C>G
c.1606+1196C>G (n.1606+1196C>G)
c.2808C>G (p.Asp936Glu)
c.628-2635C>G (n.628-2635C>G)
c.1959C>G (p.Asp653Glu)
c.2412C>G (p.Asp804Glu)
c.169+7410G>C (n.169+7410G>C)
c.*124+7209G>C (n.*124+7209G>C)
c.*2149C>G (n.*2149C>G)
c.1896C>G (p.Asp632Glu)
c.2799C>G (p.Asp933Glu)
c.-295C>G (n.-295C>G)
c.2619C>G (p.Asp873Glu)
 ClinVar dbSNP gnomAD v4
2g.47800785C>TCA426121740FBXO11,MSH6c.2505C>T (p.Asp835=)
c.2802C>T (p.Asp934=)
n.2886C>T
c.1606+1196C>T (n.1606+1196C>T)
c.2808C>T (p.Asp936=)
c.628-2635C>T (n.628-2635C>T)
c.1959C>T (p.Asp653=)
c.2412C>T (p.Asp804=)
c.169+7410G>A (n.169+7410G>A)
c.*124+7209G>A (n.*124+7209G>A)
c.*2149C>T (n.*2149C>T)
c.1896C>T (p.Asp632=)
c.2799C>T (p.Asp933=)
c.-295C>T (n.-295C>T)
c.2619C>T (p.Asp873=)
 ClinVar dbSNP
2g.47800787_47800788delCA10582069FBXO11,MSH6c.2507_2508del (p.Ser836Ter)
c.2804_2805del (p.Ser935Ter)
n.2888_2889del
c.1606+1198_1606+1199del (n.1606+1198_1606+1199del)
c.2810_2811del (p.Ser937Ter)
c.628-2633_628-2632del (n.628-2633_628-2632del)
c.1961_1962del (p.Ser654Ter)
c.2414_2415del (p.Ser805Ter)
c.169+7409_169+7410del (n.169+7409_169+7410del)
c.*124+7208_*124+7209del (n.*124+7208_*124+7209del)
c.*2151_*2152del (n.*2151_*2152del)
c.1898_1899del (p.Ser633Ter)
c.2801_2802del (p.Ser934Ter)
c.-293_-292del (n.-293_-292del)
c.2621_2622del (p.Ser874Ter)
 ClinVar dbSNP
2g.47800786T>ACA346755591FBXO11,MSH6c.2506T>A (p.Ser836Thr)
c.2803T>A (p.Ser935Thr)
n.2887T>A
c.1606+1197T>A (n.1606+1197T>A)
c.2809T>A (p.Ser937Thr)
c.628-2634T>A (n.628-2634T>A)
c.1960T>A (p.Ser654Thr)
c.2413T>A (p.Ser805Thr)
c.169+7409A>T (n.169+7409A>T)
c.*124+7208A>T (n.*124+7208A>T)
c.*2150T>A (n.*2150T>A)
c.1897T>A (p.Ser633Thr)
c.2800T>A (p.Ser934Thr)
c.-294T>A (n.-294T>A)
c.2620T>A (p.Ser874Thr)
 dbSNP
2g.47800786T>CCA346755593FBXO11,MSH6c.2506T>C (p.Ser836Pro)
c.2803T>C (p.Ser935Pro)
n.2887T>C
c.1606+1197T>C (n.1606+1197T>C)
c.2809T>C (p.Ser937Pro)
c.628-2634T>C (n.628-2634T>C)
c.1960T>C (p.Ser654Pro)
c.2413T>C (p.Ser805Pro)
c.169+7409A>G (n.169+7409A>G)
c.*124+7208A>G (n.*124+7208A>G)
c.*2150T>C (n.*2150T>C)
c.1897T>C (p.Ser633Pro)
c.2800T>C (p.Ser934Pro)
c.-294T>C (n.-294T>C)
c.2620T>C (p.Ser874Pro)
 ClinVar dbSNP
2g.47800786T>GCA346755595FBXO11,MSH6c.2506T>G (p.Ser836Ala)
c.2803T>G (p.Ser935Ala)
n.2887T>G
c.1606+1197T>G (n.1606+1197T>G)
c.2809T>G (p.Ser937Ala)
c.628-2634T>G (n.628-2634T>G)
c.1960T>G (p.Ser654Ala)
c.2413T>G (p.Ser805Ala)
c.169+7409A>C (n.169+7409A>C)
c.*124+7208A>C (n.*124+7208A>C)
c.*2150T>G (n.*2150T>G)
c.1897T>G (p.Ser633Ala)
c.2800T>G (p.Ser934Ala)
c.-294T>G (n.-294T>G)
c.2620T>G (p.Ser874Ala)
 ClinVar dbSNP
2g.47800786T=CA2496049854FBXO11,MSH6c.2506T= (p.Ser836=)
c.2803T= (p.Ser935=)
n.2887T=
c.1606+1197T= (n.1606+1197T=)
c.2809T= (p.Ser937=)
c.628-2634T= (n.628-2634T=)
c.1960T= (p.Ser654=)
c.2413T= (p.Ser805=)
c.169+7409A= (n.169+7409A=)
c.*124+7208A= (n.*124+7208A=)
c.*2150T= (n.*2150T=)
c.1897T= (p.Ser633=)
c.2800T= (p.Ser934=)
c.-294T= (n.-294T=)
c.2620T= (p.Ser874=)
2g.47800787C>ACA346755600FBXO11,MSH6c.2507C>A (p.Ser836Tyr)
c.2804C>A (p.Ser935Tyr)
n.2888C>A
c.1606+1198C>A (n.1606+1198C>A)
c.2810C>A (p.Ser937Tyr)
c.628-2633C>A (n.628-2633C>A)
c.1961C>A (p.Ser654Tyr)
c.2414C>A (p.Ser805Tyr)
c.169+7408G>T (n.169+7408G>T)
c.*124+7207G>T (n.*124+7207G>T)
c.*2151C>A (n.*2151C>A)
c.1898C>A (p.Ser633Tyr)
c.2801C>A (p.Ser934Tyr)
c.-293C>A (n.-293C>A)
c.2621C>A (p.Ser874Tyr)
 dbSNP gnomAD v4
2g.47800787C=CA2496049855FBXO11,MSH6c.2507C= (p.Ser836=)
c.2804C= (p.Ser935=)
n.2888C=
c.1606+1198C= (n.1606+1198C=)
c.2810C= (p.Ser937=)
c.628-2633C= (n.628-2633C=)
c.1961C= (p.Ser654=)
c.2414C= (p.Ser805=)
c.169+7408G= (n.169+7408G=)
c.*124+7207G= (n.*124+7207G=)
c.*2151C= (n.*2151C=)
c.1898C= (p.Ser633=)
c.2801C= (p.Ser934=)
c.-293C= (n.-293C=)
c.2621C= (p.Ser874=)
2g.47800787C>GCA346755597FBXO11,MSH6c.2507C>G (p.Ser836Cys)
c.2804C>G (p.Ser935Cys)
n.2888C>G
c.1606+1198C>G (n.1606+1198C>G)
c.2810C>G (p.Ser937Cys)
c.628-2633C>G (n.628-2633C>G)
c.1961C>G (p.Ser654Cys)
c.2414C>G (p.Ser805Cys)
c.169+7408G>C (n.169+7408G>C)
c.*124+7207G>C (n.*124+7207G>C)
c.*2151C>G (n.*2151C>G)
c.1898C>G (p.Ser633Cys)
c.2801C>G (p.Ser934Cys)
c.-293C>G (n.-293C>G)
c.2621C>G (p.Ser874Cys)
 ClinVar dbSNP
2g.47800787C>TCA346755599FBXO11,MSH6c.2507C>T (p.Ser836Phe)
c.2804C>T (p.Ser935Phe)
n.2888C>T
c.1606+1198C>T (n.1606+1198C>T)
c.2810C>T (p.Ser937Phe)
c.628-2633C>T (n.628-2633C>T)
c.1961C>T (p.Ser654Phe)
c.2414C>T (p.Ser805Phe)
c.169+7408G>A (n.169+7408G>A)
c.*124+7207G>A (n.*124+7207G>A)
c.*2151C>T (n.*2151C>T)
c.1898C>T (p.Ser633Phe)
c.2801C>T (p.Ser934Phe)
c.-293C>T (n.-293C>T)
c.2621C>T (p.Ser874Phe)
 ClinVar dbSNP
2g.47800787_47800789delinsCTGCA2496049856FBXO11,MSH6c.2507_2509delinsCTG (p.Ser836=)
c.2804_2806delinsCTG (p.Ser935=)
n.2888_2890delinsCTG
c.1606+1198_1606+1200delinsCTG (n.1606+1198_1606+1200delinsCTG)
c.2810_2812delinsCTG (p.Ser937=)
c.628-2633_628-2631delinsCTG (n.628-2633_628-2631delinsCTG)
c.1961_1963delinsCTG (p.Ser654=)
c.2414_2416delinsCTG (p.Ser805=)
c.169+7406_169+7408delinsCAG (n.169+7406_169+7408delinsCAG)
c.*124+7205_*124+7207delinsCAG (n.*124+7205_*124+7207delinsCAG)
c.*2151_*2153delinsCTG (n.*2151_*2153delinsCTG)
c.1898_1900delinsCTG (p.Ser633=)
c.2801_2803delinsCTG (p.Ser934=)
c.-293_-291delinsCTG (n.-293_-291delinsCTG)
c.2621_2623delinsCTG (p.Ser874=)
2g.47800788T>ACA426121744FBXO11,MSH6c.2508T>A (p.Ser836=)
c.2805T>A (p.Ser935=)
n.2889T>A
c.1606+1199T>A (n.1606+1199T>A)
c.2811T>A (p.Ser937=)
c.628-2632T>A (n.628-2632T>A)
c.1962T>A (p.Ser654=)
c.2415T>A (p.Ser805=)
c.169+7407A>T (n.169+7407A>T)
c.*124+7206A>T (n.*124+7206A>T)
c.*2152T>A (n.*2152T>A)
c.1899T>A (p.Ser633=)
c.2802T>A (p.Ser934=)
c.-292T>A (n.-292T>A)
c.2622T>A (p.Ser874=)
 dbSNP
2g.47800788T>CCA426121745FBXO11,MSH6c.2508T>C (p.Ser836=)
c.2805T>C (p.Ser935=)
n.2889T>C
c.1606+1199T>C (n.1606+1199T>C)
c.2811T>C (p.Ser937=)
c.628-2632T>C (n.628-2632T>C)
c.1962T>C (p.Ser654=)
c.2415T>C (p.Ser805=)
c.169+7407A>G (n.169+7407A>G)
c.*124+7206A>G (n.*124+7206A>G)
c.*2152T>C (n.*2152T>C)
c.1899T>C (p.Ser633=)
c.2802T>C (p.Ser934=)
c.-292T>C (n.-292T>C)
c.2622T>C (p.Ser874=)
 ClinVar dbSNP gnomAD v4
2g.47800788T>GCA426121747FBXO11,MSH6c.2508T>G (p.Ser836=)
c.2805T>G (p.Ser935=)
n.2889T>G
c.1606+1199T>G (n.1606+1199T>G)
c.2811T>G (p.Ser937=)
c.628-2632T>G (n.628-2632T>G)
c.1962T>G (p.Ser654=)
c.2415T>G (p.Ser805=)
c.169+7407A>C (n.169+7407A>C)
c.*124+7206A>C (n.*124+7206A>C)
c.*2152T>G (n.*2152T>G)
c.1899T>G (p.Ser633=)
c.2802T>G (p.Ser934=)
c.-292T>G (n.-292T>G)
c.2622T>G (p.Ser874=)
2g.47800788_47800789insTTCA10578118FBXO11,MSH6c.2508_2509insTT (p.Asp837LeufsTer10)
c.2805_2806insTT (p.Asp936LeufsTer10)
n.2889_2890insTT
c.1606+1199_1606+1200insTT (n.1606+1199_1606+1200insTT)
c.2811_2812insTT (p.Asp938LeufsTer10)
c.628-2632_628-2631insTT (n.628-2632_628-2631insTT)
c.1962_1963insTT (p.Asp655LeufsTer10)
c.2415_2416insTT (p.Asp806LeufsTer10)
c.169+7407_169+7408insAA (n.169+7407_169+7408insAA)
c.*124+7206_*124+7207insAA (n.*124+7206_*124+7207insAA)
c.*2152_*2153insTT (n.*2152_*2153insTT)
c.1899_1900insTT (p.Asp634LeufsTer10)
c.2802_2803insTT (p.Asp935LeufsTer10)
c.-292_-291insTT (n.-292_-291insTT)
c.2622_2623insTT (p.Asp875LeufsTer10)
 ClinVar dbSNP
2g.47800788dupCA645372553FBXO11,MSH6c.2508dup (p.Asp837Ter)
c.2805dup (p.Asp936Ter)
n.2889dup
c.1606+1199dup (n.1606+1199dup)
c.2811dup (p.Asp938Ter)
c.628-2632dup (n.628-2632dup)
c.1962dup (p.Asp655Ter)
c.2415dup (p.Asp806Ter)
c.169+7407dup (n.169+7407dup)
c.*124+7206dup (n.*124+7206dup)
c.*2152dup (n.*2152dup)
c.1899dup (p.Asp634Ter)
c.2802dup (p.Asp935Ter)
c.-292dup (n.-292dup)
c.2622dup (p.Asp875Ter)
 ClinVar dbSNP gnomAD v4
2g.47800788_47800789delCA279815FBXO11,MSH6c.2508_2509del (p.Asp837LeufsTer2)
c.2805_2806del (p.Asp936LeufsTer2)
n.2889_2890del
c.1606+1199_1606+1200del (n.1606+1199_1606+1200del)
c.2811_2812del (p.Asp938LeufsTer2)
c.628-2632_628-2631del (n.628-2632_628-2631del)
c.1962_1963del (p.Asp655LeufsTer2)
c.2415_2416del (p.Asp806LeufsTer2)
c.169+7406_169+7407del (n.169+7406_169+7407del)
c.*124+7205_*124+7206del (n.*124+7205_*124+7206del)
c.*2152_*2153del (n.*2152_*2153del)
c.1899_1900del (p.Asp634LeufsTer2)
c.2802_2803del (p.Asp935LeufsTer2)
c.-292_-291del (n.-292_-291del)
c.2622_2623del (p.Asp875LeufsTer2)
 ClinVar dbSNP gnomAD v4
2g.47800788_47800790delinsCCCA2580068072FBXO11,MSH6c.2508_2510delinsCC (p.Asp837LeufsTer9)
c.2805_2807delinsCC (p.Asp936LeufsTer9)
n.2889_2891delinsCC
c.1606+1199_1606+1201delinsCC (n.1606+1199_1606+1201delinsCC)
c.2811_2813delinsCC (p.Asp938LeufsTer9)
c.628-2632_628-2630delinsCC (n.628-2632_628-2630delinsCC)
c.1962_1964delinsCC (p.Asp655LeufsTer9)
c.2415_2417delinsCC (p.Asp806LeufsTer9)
c.169+7405_169+7407delinsGG (n.169+7405_169+7407delinsGG)
c.*124+7204_*124+7206delinsGG (n.*124+7204_*124+7206delinsGG)
c.*2152_*2154delinsCC (n.*2152_*2154delinsCC)
c.1899_1901delinsCC (p.Asp634LeufsTer9)
c.2802_2804delinsCC (p.Asp935LeufsTer9)
c.-292_-290delinsCC (n.-292_-290delinsCC)
c.2622_2624delinsCC (p.Asp875LeufsTer9)
 ClinVar
2g.47800789_47800792delCA2580068073FBXO11,MSH6c.2509_2512del (p.Asp837MetfsTer8)
c.2806_2809del (p.Asp936MetfsTer8)
n.2890_2893del
c.1606+1200_1606+1203del (n.1606+1200_1606+1203del)
c.2812_2815del (p.Asp938MetfsTer8)
c.628-2631_628-2628del (n.628-2631_628-2628del)
c.1963_1966del (p.Asp655MetfsTer8)
c.2416_2419del (p.Asp806MetfsTer8)
c.169+7404_169+7407del (n.169+7404_169+7407del)
c.*124+7203_*124+7206del (n.*124+7203_*124+7206del)
c.*2153_*2156del (n.*2153_*2156del)
c.1900_1903del (p.Asp634MetfsTer8)
c.2803_2806del (p.Asp935MetfsTer8)
c.-291_-288del (n.-291_-288del)
c.2623_2626del (p.Asp875MetfsTer8)
 ClinVar
2g.47800789G>ACA10578119FBXO11,MSH6c.2509G>A (p.Asp837Asn)
c.2806G>A (p.Asp936Asn)
n.2890G>A
c.1606+1200G>A (n.1606+1200G>A)
c.2812G>A (p.Asp938Asn)
c.628-2631G>A (n.628-2631G>A)
c.1963G>A (p.Asp655Asn)
c.2416G>A (p.Asp806Asn)
c.169+7406C>T (n.169+7406C>T)
c.*124+7205C>T (n.*124+7205C>T)
c.*2153G>A (n.*2153G>A)
c.1900G>A (p.Asp634Asn)
c.2803G>A (p.Asp935Asn)
c.-291G>A (n.-291G>A)
c.2623G>A (p.Asp875Asn)
 ClinVar dbSNP gnomAD v4
2g.47800789G>CCA346755605FBXO11,MSH6c.2509G>C (p.Asp837His)
c.2806G>C (p.Asp936His)
n.2890G>C
c.1606+1200G>C (n.1606+1200G>C)
c.2812G>C (p.Asp938His)
c.628-2631G>C (n.628-2631G>C)
c.1963G>C (p.Asp655His)
c.2416G>C (p.Asp806His)
c.169+7406C>G (n.169+7406C>G)
c.*124+7205C>G (n.*124+7205C>G)
c.*2153G>C (n.*2153G>C)
c.1900G>C (p.Asp634His)
c.2803G>C (p.Asp935His)
c.-291G>C (n.-291G>C)
c.2623G>C (p.Asp875His)
 ClinVar dbSNP
2g.47800789G=CA2496049857FBXO11,MSH6c.2509G= (p.Asp837=)
c.2806G= (p.Asp936=)
n.2890G=
c.1606+1200G= (n.1606+1200G=)
c.2812G= (p.Asp938=)
c.628-2631G= (n.628-2631G=)
c.1963G= (p.Asp655=)
c.2416G= (p.Asp806=)
c.169+7406C= (n.169+7406C=)
c.*124+7205C= (n.*124+7205C=)
c.*2153G= (n.*2153G=)
c.1900G= (p.Asp634=)
c.2803G= (p.Asp935=)
c.-291G= (n.-291G=)
c.2623G= (p.Asp875=)
2g.47800789G>TCA346755607FBXO11,MSH6c.2509G>T (p.Asp837Tyr)
c.2806G>T (p.Asp936Tyr)
n.2890G>T
c.1606+1200G>T (n.1606+1200G>T)
c.2812G>T (p.Asp938Tyr)
c.628-2631G>T (n.628-2631G>T)
c.1963G>T (p.Asp655Tyr)
c.2416G>T (p.Asp806Tyr)
c.169+7406C>A (n.169+7406C>A)
c.*124+7205C>A (n.*124+7205C>A)
c.*2153G>T (n.*2153G>T)
c.1900G>T (p.Asp634Tyr)
c.2803G>T (p.Asp935Tyr)
c.-291G>T (n.-291G>T)
c.2623G>T (p.Asp875Tyr)
 dbSNP
2g.47800790A>CCA346755608FBXO11,MSH6c.2510A>C (p.Asp837Ala)
c.2807A>C (p.Asp936Ala)
n.2891A>C
c.1606+1201A>C (n.1606+1201A>C)
c.2813A>C (p.Asp938Ala)
c.628-2630A>C (n.628-2630A>C)
c.1964A>C (p.Asp655Ala)
c.2417A>C (p.Asp806Ala)
c.169+7405T>G (n.169+7405T>G)
c.*124+7204T>G (n.*124+7204T>G)
c.*2154A>C (n.*2154A>C)
c.1901A>C (p.Asp634Ala)
c.2804A>C (p.Asp935Ala)
c.-290A>C (n.-290A>C)
c.2624A>C (p.Asp875Ala)
2g.47800790A>GCA346755609FBXO11,MSH6c.2510A>G (p.Asp837Gly)
c.2807A>G (p.Asp936Gly)
n.2891A>G
c.1606+1201A>G (n.1606+1201A>G)
c.2813A>G (p.Asp938Gly)
c.628-2630A>G (n.628-2630A>G)
c.1964A>G (p.Asp655Gly)
c.2417A>G (p.Asp806Gly)
c.169+7405T>C (n.169+7405T>C)
c.*124+7204T>C (n.*124+7204T>C)
c.*2154A>G (n.*2154A>G)
c.1901A>G (p.Asp634Gly)
c.2804A>G (p.Asp935Gly)
c.-290A>G (n.-290A>G)
c.2624A>G (p.Asp875Gly)
2g.47800790A>TCA346755610FBXO11,MSH6c.2510A>T (p.Asp837Val)
c.2807A>T (p.Asp936Val)
n.2891A>T
c.1606+1201A>T (n.1606+1201A>T)
c.2813A>T (p.Asp938Val)
c.628-2630A>T (n.628-2630A>T)
c.1964A>T (p.Asp655Val)
c.2417A>T (p.Asp806Val)
c.169+7405T>A (n.169+7405T>A)
c.*124+7204T>A (n.*124+7204T>A)
c.*2154A>T (n.*2154A>T)
c.1901A>T (p.Asp634Val)
c.2804A>T (p.Asp935Val)
c.-290A>T (n.-290A>T)
c.2624A>T (p.Asp875Val)
2g.47800791T>ACA346755613FBXO11,MSH6c.2511T>A (p.Asp837Glu)
c.2808T>A (p.Asp936Glu)
n.2892T>A
c.1606+1202T>A (n.1606+1202T>A)
c.2814T>A (p.Asp938Glu)
c.628-2629T>A (n.628-2629T>A)
c.1965T>A (p.Asp655Glu)
c.2418T>A (p.Asp806Glu)
c.169+7404A>T (n.169+7404A>T)
c.*124+7203A>T (n.*124+7203A>T)
c.*2155T>A (n.*2155T>A)
c.1902T>A (p.Asp634Glu)
c.2805T>A (p.Asp935Glu)
c.-289T>A (n.-289T>A)
c.2625T>A (p.Asp875Glu)
 ClinVar dbSNP
2g.47800791T>CCA426121750FBXO11,MSH6c.2511T>C (p.Asp837=)
c.2808T>C (p.Asp936=)
n.2892T>C
c.1606+1202T>C (n.1606+1202T>C)
c.2814T>C (p.Asp938=)
c.628-2629T>C (n.628-2629T>C)
c.1965T>C (p.Asp655=)
c.2418T>C (p.Asp806=)
c.169+7404A>G (n.169+7404A>G)
c.*124+7203A>G (n.*124+7203A>G)
c.*2155T>C (n.*2155T>C)
c.1902T>C (p.Asp634=)
c.2805T>C (p.Asp935=)
c.-289T>C (n.-289T>C)
c.2625T>C (p.Asp875=)
 ClinVar dbSNP
2g.47800791T>GCA010934FBXO11,MSH6c.2511T>G (p.Asp837Glu)
c.2808T>G (p.Asp936Glu)
n.2892T>G
c.1606+1202T>G (n.1606+1202T>G)
c.2814T>G (p.Asp938Glu)
c.628-2629T>G (n.628-2629T>G)
c.1965T>G (p.Asp655Glu)
c.2418T>G (p.Asp806Glu)
c.169+7404A>C (n.169+7404A>C)
c.*124+7203A>C (n.*124+7203A>C)
c.*2155T>G (n.*2155T>G)
c.1902T>G (p.Asp634Glu)
c.2805T>G (p.Asp935Glu)
c.-289T>G (n.-289T>G)
c.2625T>G (p.Asp875Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800791T=CA2496049858FBXO11,MSH6c.2511T= (p.Asp837=)
c.2808T= (p.Asp936=)
n.2892T=
c.1606+1202T= (n.1606+1202T=)
c.2814T= (p.Asp938=)
c.628-2629T= (n.628-2629T=)
c.1965T= (p.Asp655=)
c.2418T= (p.Asp806=)
c.169+7404A= (n.169+7404A=)
c.*124+7203A= (n.*124+7203A=)
c.*2155T= (n.*2155T=)
c.1902T= (p.Asp634=)
c.2805T= (p.Asp935=)
c.-289T= (n.-289T=)
c.2625T= (p.Asp875=)
2g.47800792T>ACA346755616FBXO11,MSH6c.2512T>A (p.Tyr838Asn)
c.2809T>A (p.Tyr937Asn)
n.2893T>A
c.1606+1203T>A (n.1606+1203T>A)
c.2815T>A (p.Tyr939Asn)
c.628-2628T>A (n.628-2628T>A)
c.1966T>A (p.Tyr656Asn)
c.2419T>A (p.Tyr807Asn)
c.169+7403A>T (n.169+7403A>T)
c.*124+7202A>T (n.*124+7202A>T)
c.*2156T>A (n.*2156T>A)
c.1903T>A (p.Tyr635Asn)
c.2806T>A (p.Tyr936Asn)
c.-288T>A (n.-288T>A)
c.2626T>A (p.Tyr876Asn)
 dbSNP
2g.47800792T>CCA346755618FBXO11,MSH6c.2512T>C (p.Tyr838His)
c.2809T>C (p.Tyr937His)
n.2893T>C
c.1606+1203T>C (n.1606+1203T>C)
c.2815T>C (p.Tyr939His)
c.628-2628T>C (n.628-2628T>C)
c.1966T>C (p.Tyr656His)
c.2419T>C (p.Tyr807His)
c.169+7403A>G (n.169+7403A>G)
c.*124+7202A>G (n.*124+7202A>G)
c.*2156T>C (n.*2156T>C)
c.1903T>C (p.Tyr635His)
c.2806T>C (p.Tyr936His)
c.-288T>C (n.-288T>C)
c.2626T>C (p.Tyr876His)
 ClinVar gnomAD v4
2g.47800792T>GCA346755620FBXO11,MSH6c.2512T>G (p.Tyr838Asp)
c.2809T>G (p.Tyr937Asp)
n.2893T>G
c.1606+1203T>G (n.1606+1203T>G)
c.2815T>G (p.Tyr939Asp)
c.628-2628T>G (n.628-2628T>G)
c.1966T>G (p.Tyr656Asp)
c.2419T>G (p.Tyr807Asp)
c.169+7403A>C (n.169+7403A>C)
c.*124+7202A>C (n.*124+7202A>C)
c.*2156T>G (n.*2156T>G)
c.1903T>G (p.Tyr635Asp)
c.2806T>G (p.Tyr936Asp)
c.-288T>G (n.-288T>G)
c.2626T>G (p.Tyr876Asp)
 dbSNP
2g.47800792_47800812delCA2658948766FBXO11,MSH6c.2512_2532del (p.Tyr838_Asp844del)
c.2809_2829del (p.Tyr937_Asp943del)
n.2893_2913del
c.1606+1203_1606+1223del (n.1606+1203_1606+1223del)
c.2815_2835del (p.Tyr939_Asp945del)
c.628-2628_628-2608del (n.628-2628_628-2608del)
c.1966_1986del (p.Tyr656_Asp662del)
c.2419_2439del (p.Tyr807_Asp813del)
c.169+7383_169+7403del (n.169+7383_169+7403del)
c.*124+7182_*124+7202del (n.*124+7182_*124+7202del)
c.*2156_*2176del (n.*2156_*2176del)
c.1903_1923del (p.Tyr635_Asp641del)
c.2806_2826del (p.Tyr936_Asp942del)
c.-288_-268del (n.-288_-268del)
c.2626_2646del (p.Tyr876_Asp882del)
 gnomAD v4
2g.47800793A=CA2496049859FBXO11,MSH6c.2513A= (p.Tyr838=)
c.2810A= (p.Tyr937=)
n.2894A=
c.1606+1204A= (n.1606+1204A=)
c.2816A= (p.Tyr939=)
c.628-2627A= (n.628-2627A=)
c.1967A= (p.Tyr656=)
c.2420A= (p.Tyr807=)
c.169+7402T= (n.169+7402T=)
c.*124+7201T= (n.*124+7201T=)
c.*2157A= (n.*2157A=)
c.1904A= (p.Tyr635=)
c.2807A= (p.Tyr936=)
c.-287A= (n.-287A=)
c.2627A= (p.Tyr876=)
2g.47800793A>CCA346755622FBXO11,MSH6c.2513A>C (p.Tyr838Ser)
c.2810A>C (p.Tyr937Ser)
n.2894A>C
c.1606+1204A>C (n.1606+1204A>C)
c.2816A>C (p.Tyr939Ser)
c.628-2627A>C (n.628-2627A>C)
c.1967A>C (p.Tyr656Ser)
c.2420A>C (p.Tyr807Ser)
c.169+7402T>G (n.169+7402T>G)
c.*124+7201T>G (n.*124+7201T>G)
c.*2157A>C (n.*2157A>C)
c.1904A>C (p.Tyr635Ser)
c.2807A>C (p.Tyr936Ser)
c.-287A>C (n.-287A>C)
c.2627A>C (p.Tyr876Ser)
 dbSNP
2g.47800793A>GCA346755624FBXO11,MSH6c.2513A>G (p.Tyr838Cys)
c.2810A>G (p.Tyr937Cys)
n.2894A>G
c.1606+1204A>G (n.1606+1204A>G)
c.2816A>G (p.Tyr939Cys)
c.628-2627A>G (n.628-2627A>G)
c.1967A>G (p.Tyr656Cys)
c.2420A>G (p.Tyr807Cys)
c.169+7402T>C (n.169+7402T>C)
c.*124+7201T>C (n.*124+7201T>C)
c.*2157A>G (n.*2157A>G)
c.1904A>G (p.Tyr635Cys)
c.2807A>G (p.Tyr936Cys)
c.-287A>G (n.-287A>G)
c.2627A>G (p.Tyr876Cys)
 ClinVar dbSNP gnomAD v4
2g.47800793A>TCA346755621FBXO11,MSH6c.2513A>T (p.Tyr838Phe)
c.2810A>T (p.Tyr937Phe)
n.2894A>T
c.1606+1204A>T (n.1606+1204A>T)
c.2816A>T (p.Tyr939Phe)
c.628-2627A>T (n.628-2627A>T)
c.1967A>T (p.Tyr656Phe)
c.2420A>T (p.Tyr807Phe)
c.169+7402T>A (n.169+7402T>A)
c.*124+7201T>A (n.*124+7201T>A)
c.*2157A>T (n.*2157A>T)
c.1904A>T (p.Tyr635Phe)
c.2807A>T (p.Tyr936Phe)
c.-287A>T (n.-287A>T)
c.2627A>T (p.Tyr876Phe)
 dbSNP
2g.47800794T>ACA346755626FBXO11,MSH6c.2514T>A (p.Tyr838Ter)
c.2811T>A (p.Tyr937Ter)
n.2895T>A
c.1606+1205T>A (n.1606+1205T>A)
c.2817T>A (p.Tyr939Ter)
c.628-2626T>A (n.628-2626T>A)
c.1968T>A (p.Tyr656Ter)
c.2421T>A (p.Tyr807Ter)
c.169+7401A>T (n.169+7401A>T)
c.*124+7200A>T (n.*124+7200A>T)
c.*2158T>A (n.*2158T>A)
c.1905T>A (p.Tyr635Ter)
c.2808T>A (p.Tyr936Ter)
c.-286T>A (n.-286T>A)
c.2628T>A (p.Tyr876Ter)
 ClinVar dbSNP
2g.47800794T>CCA426121753FBXO11,MSH6c.2514T>C (p.Tyr838=)
c.2811T>C (p.Tyr937=)
n.2895T>C
c.1606+1205T>C (n.1606+1205T>C)
c.2817T>C (p.Tyr939=)
c.628-2626T>C (n.628-2626T>C)
c.1968T>C (p.Tyr656=)
c.2421T>C (p.Tyr807=)
c.169+7401A>G (n.169+7401A>G)
c.*124+7200A>G (n.*124+7200A>G)
c.*2158T>C (n.*2158T>C)
c.1905T>C (p.Tyr635=)
c.2808T>C (p.Tyr936=)
c.-286T>C (n.-286T>C)
c.2628T>C (p.Tyr876=)
2g.47800794T>GCA346755627FBXO11,MSH6c.2514T>G (p.Tyr838Ter)
c.2811T>G (p.Tyr937Ter)
n.2895T>G
c.1606+1205T>G (n.1606+1205T>G)
c.2817T>G (p.Tyr939Ter)
c.628-2626T>G (n.628-2626T>G)
c.1968T>G (p.Tyr656Ter)
c.2421T>G (p.Tyr807Ter)
c.169+7401A>C (n.169+7401A>C)
c.*124+7200A>C (n.*124+7200A>C)
c.*2158T>G (n.*2158T>G)
c.1905T>G (p.Tyr635Ter)
c.2808T>G (p.Tyr936Ter)
c.-286T>G (n.-286T>G)
c.2628T>G (p.Tyr876Ter)
 ClinVar dbSNP
2g.47800794T=CA2496049861FBXO11,MSH6c.2514T= (p.Tyr838=)
c.2811T= (p.Tyr937=)
n.2895T=
c.1606+1205T= (n.1606+1205T=)
c.2817T= (p.Tyr939=)
c.628-2626T= (n.628-2626T=)
c.1968T= (p.Tyr656=)
c.2421T= (p.Tyr807=)
c.169+7401A= (n.169+7401A=)
c.*124+7200A= (n.*124+7200A=)
c.*2158T= (n.*2158T=)
c.1905T= (p.Tyr635=)
c.2808T= (p.Tyr936=)
c.-286T= (n.-286T=)
c.2628T= (p.Tyr876=)
2g.47800794_47800795delinsTGCA2496049860FBXO11,MSH6c.2514_2515delinsTG (p.Tyr838=)
c.2811_2812delinsTG (p.Tyr937=)
n.2895_2896delinsTG
c.1606+1205_1606+1206delinsTG (n.1606+1205_1606+1206delinsTG)
c.2817_2818delinsTG (p.Tyr939=)
c.628-2626_628-2625delinsTG (n.628-2626_628-2625delinsTG)
c.1968_1969delinsTG (p.Tyr656=)
c.2421_2422delinsTG (p.Tyr807=)
c.169+7400_169+7401delinsCA (n.169+7400_169+7401delinsCA)
c.*124+7199_*124+7200delinsCA (n.*124+7199_*124+7200delinsCA)
c.*2158_*2159delinsTG (n.*2158_*2159delinsTG)
c.1905_1906delinsTG (p.Tyr635=)
c.2808_2809delinsTG (p.Tyr936=)
c.-286_-285delinsTG (n.-286_-285delinsTG)
c.2628_2629delinsTG (p.Tyr876=)
2g.47800795delCA645369256FBXO11,MSH6c.2515del (p.Asp839ThrfsTer7)
c.2812del (p.Asp938ThrfsTer7)
n.2896del
c.1606+1206del (n.1606+1206del)
c.2818del (p.Asp940ThrfsTer7)
c.628-2625del (n.628-2625del)
c.1969del (p.Asp657ThrfsTer7)
c.2422del (p.Asp808ThrfsTer7)
c.169+7400del (n.169+7400del)
c.*124+7199del (n.*124+7199del)
c.*2159del (n.*2159del)
c.1906del (p.Asp636ThrfsTer7)
c.2809del (p.Asp937ThrfsTer7)
c.-285del (n.-285del)
c.2629del (p.Asp877ThrfsTer7)
 ClinVar dbSNP
2g.47800795G>ACA346755628FBXO11,MSH6c.2515G>A (p.Asp839Asn)
c.2812G>A (p.Asp938Asn)
n.2896G>A
c.1606+1206G>A (n.1606+1206G>A)
c.2818G>A (p.Asp940Asn)
c.628-2625G>A (n.628-2625G>A)
c.1969G>A (p.Asp657Asn)
c.2422G>A (p.Asp808Asn)
c.169+7400C>T (n.169+7400C>T)
c.*124+7199C>T (n.*124+7199C>T)
c.*2159G>A (n.*2159G>A)
c.1906G>A (p.Asp636Asn)
c.2809G>A (p.Asp937Asn)
c.-285G>A (n.-285G>A)
c.2629G>A (p.Asp877Asn)
 dbSNP
2g.47800795G>CCA346755629FBXO11,MSH6c.2515G>C (p.Asp839His)
c.2812G>C (p.Asp938His)
n.2896G>C
c.1606+1206G>C (n.1606+1206G>C)
c.2818G>C (p.Asp940His)
c.628-2625G>C (n.628-2625G>C)
c.1969G>C (p.Asp657His)
c.2422G>C (p.Asp808His)
c.169+7400C>G (n.169+7400C>G)
c.*124+7199C>G (n.*124+7199C>G)
c.*2159G>C (n.*2159G>C)
c.1906G>C (p.Asp636His)
c.2809G>C (p.Asp937His)
c.-285G>C (n.-285G>C)
c.2629G>C (p.Asp877His)
 ClinVar dbSNP
2g.47800795G=CA2496049862FBXO11,MSH6c.2515G= (p.Asp839=)
c.2812G= (p.Asp938=)
n.2896G=
c.1606+1206G= (n.1606+1206G=)
c.2818G= (p.Asp940=)
c.628-2625G= (n.628-2625G=)
c.1969G= (p.Asp657=)
c.2422G= (p.Asp808=)
c.169+7400C= (n.169+7400C=)
c.*124+7199C= (n.*124+7199C=)
c.*2159G= (n.*2159G=)
c.1906G= (p.Asp636=)
c.2809G= (p.Asp937=)
c.-285G= (n.-285G=)
c.2629G= (p.Asp877=)
2g.47800795G>TCA346755632FBXO11,MSH6c.2515G>T (p.Asp839Tyr)
c.2812G>T (p.Asp938Tyr)
n.2896G>T
c.1606+1206G>T (n.1606+1206G>T)
c.2818G>T (p.Asp940Tyr)
c.628-2625G>T (n.628-2625G>T)
c.1969G>T (p.Asp657Tyr)
c.2422G>T (p.Asp808Tyr)
c.169+7400C>A (n.169+7400C>A)
c.*124+7199C>A (n.*124+7199C>A)
c.*2159G>T (n.*2159G>T)
c.1906G>T (p.Asp636Tyr)
c.2809G>T (p.Asp937Tyr)
c.-285G>T (n.-285G>T)
c.2629G>T (p.Asp877Tyr)
 gnomAD v4
2g.47800795_47800797delinsTAACA2580068074FBXO11,MSH6c.2515_2517delinsTAA (p.Asp839Ter)
c.2812_2814delinsTAA (p.Asp938Ter)
n.2896_2898delinsTAA
c.1606+1206_1606+1208delinsTAA (n.1606+1206_1606+1208delinsTAA)
c.2818_2820delinsTAA (p.Asp940Ter)
c.628-2625_628-2623delinsTAA (n.628-2625_628-2623delinsTAA)
c.1969_1971delinsTAA (p.Asp657Ter)
c.2422_2424delinsTAA (p.Asp808Ter)
c.169+7398_169+7400delinsTTA (n.169+7398_169+7400delinsTTA)
c.*124+7197_*124+7199delinsTTA (n.*124+7197_*124+7199delinsTTA)
c.*2159_*2161delinsTAA (n.*2159_*2161delinsTAA)
c.1906_1908delinsTAA (p.Asp636Ter)
c.2809_2811delinsTAA (p.Asp937Ter)
c.-285_-283delinsTAA (n.-285_-283delinsTAA)
c.2629_2631delinsTAA (p.Asp877Ter)
 ClinVar
2g.47800796A>CCA346755634FBXO11,MSH6c.2516A>C (p.Asp839Ala)
c.2813A>C (p.Asp938Ala)
n.2897A>C
c.1606+1207A>C (n.1606+1207A>C)
c.2819A>C (p.Asp940Ala)
c.628-2624A>C (n.628-2624A>C)
c.1970A>C (p.Asp657Ala)
c.2423A>C (p.Asp808Ala)
c.169+7399T>G (n.169+7399T>G)
c.*124+7198T>G (n.*124+7198T>G)
c.*2160A>C (n.*2160A>C)
c.1907A>C (p.Asp636Ala)
c.2810A>C (p.Asp937Ala)
c.-284A>C (n.-284A>C)
c.2630A>C (p.Asp877Ala)
 dbSNP
2g.47800796A>GCA346755635FBXO11,MSH6c.2516A>G (p.Asp839Gly)
c.2813A>G (p.Asp938Gly)
n.2897A>G
c.1606+1207A>G (n.1606+1207A>G)
c.2819A>G (p.Asp940Gly)
c.628-2624A>G (n.628-2624A>G)
c.1970A>G (p.Asp657Gly)
c.2423A>G (p.Asp808Gly)
c.169+7399T>C (n.169+7399T>C)
c.*124+7198T>C (n.*124+7198T>C)
c.*2160A>G (n.*2160A>G)
c.1907A>G (p.Asp636Gly)
c.2810A>G (p.Asp937Gly)
c.-284A>G (n.-284A>G)
c.2630A>G (p.Asp877Gly)
2g.47800796A>TCA346755636FBXO11,MSH6c.2516A>T (p.Asp839Val)
c.2813A>T (p.Asp938Val)
n.2897A>T
c.1606+1207A>T (n.1606+1207A>T)
c.2819A>T (p.Asp940Val)
c.628-2624A>T (n.628-2624A>T)
c.1970A>T (p.Asp657Val)
c.2423A>T (p.Asp808Val)
c.169+7399T>A (n.169+7399T>A)
c.*124+7198T>A (n.*124+7198T>A)
c.*2160A>T (n.*2160A>T)
c.1907A>T (p.Asp636Val)
c.2810A>T (p.Asp937Val)
c.-284A>T (n.-284A>T)
c.2630A>T (p.Asp877Val)
 dbSNP
2g.47800797C>ACA346755638FBXO11,MSH6c.2517C>A (p.Asp839Glu)
c.2814C>A (p.Asp938Glu)
n.2898C>A
c.1606+1208C>A (n.1606+1208C>A)
c.2820C>A (p.Asp940Glu)
c.628-2623C>A (n.628-2623C>A)
c.1971C>A (p.Asp657Glu)
c.2424C>A (p.Asp808Glu)
c.169+7398G>T (n.169+7398G>T)
c.*124+7197G>T (n.*124+7197G>T)
c.*2161C>A (n.*2161C>A)
c.1908C>A (p.Asp636Glu)
c.2811C>A (p.Asp937Glu)
c.-283C>A (n.-283C>A)
c.2631C>A (p.Asp877Glu)
 dbSNP
2g.47800797C=CA2496049863FBXO11,MSH6c.2517C= (p.Asp839=)
c.2814C= (p.Asp938=)
n.2898C=
c.1606+1208C= (n.1606+1208C=)
c.2820C= (p.Asp940=)
c.628-2623C= (n.628-2623C=)
c.1971C= (p.Asp657=)
c.2424C= (p.Asp808=)
c.169+7398G= (n.169+7398G=)
c.*124+7197G= (n.*124+7197G=)
c.*2161C= (n.*2161C=)
c.1908C= (p.Asp636=)
c.2811C= (p.Asp937=)
c.-283C= (n.-283C=)
c.2631C= (p.Asp877=)
2g.47800797C>GCA346755640FBXO11,MSH6c.2517C>G (p.Asp839Glu)
c.2814C>G (p.Asp938Glu)
n.2898C>G
c.1606+1208C>G (n.1606+1208C>G)
c.2820C>G (p.Asp940Glu)
c.628-2623C>G (n.628-2623C>G)
c.1971C>G (p.Asp657Glu)
c.2424C>G (p.Asp808Glu)
c.169+7398G>C (n.169+7398G>C)
c.*124+7197G>C (n.*124+7197G>C)
c.*2161C>G (n.*2161C>G)
c.1908C>G (p.Asp636Glu)
c.2811C>G (p.Asp937Glu)
c.-283C>G (n.-283C>G)
c.2631C>G (p.Asp877Glu)
 ClinVar dbSNP
2g.47800797C>TCA426121762FBXO11,MSH6c.2517C>T (p.Asp839=)
c.2814C>T (p.Asp938=)
n.2898C>T
c.1606+1208C>T (n.1606+1208C>T)
c.2820C>T (p.Asp940=)
c.628-2623C>T (n.628-2623C>T)
c.1971C>T (p.Asp657=)
c.2424C>T (p.Asp808=)
c.169+7398G>A (n.169+7398G>A)
c.*124+7197G>A (n.*124+7197G>A)
c.*2161C>T (n.*2161C>T)
c.1908C>T (p.Asp636=)
c.2811C>T (p.Asp937=)
c.-283C>T (n.-283C>T)
c.2631C>T (p.Asp877=)
 ClinVar dbSNP gnomAD v4
2g.47800798C>ACA346755641FBXO11,MSH6c.2518C>A (p.Gln840Lys)
c.2815C>A (p.Gln939Lys)
n.2899C>A
c.1606+1209C>A (n.1606+1209C>A)
c.2821C>A (p.Gln941Lys)
c.628-2622C>A (n.628-2622C>A)
c.1972C>A (p.Gln658Lys)
c.2425C>A (p.Gln809Lys)
c.169+7397G>T (n.169+7397G>T)
c.*124+7196G>T (n.*124+7196G>T)
c.*2162C>A (n.*2162C>A)
c.1909C>A (p.Gln637Lys)
c.2812C>A (p.Gln938Lys)
c.-282C>A (n.-282C>A)
c.2632C>A (p.Gln878Lys)
 dbSNP
2g.47800798C=CA2496049864FBXO11,MSH6c.2518C= (p.Gln840=)
c.2815C= (p.Gln939=)
n.2899C=
c.1606+1209C= (n.1606+1209C=)
c.2821C= (p.Gln941=)
c.628-2622C= (n.628-2622C=)
c.1972C= (p.Gln658=)
c.2425C= (p.Gln809=)
c.169+7397G= (n.169+7397G=)
c.*124+7196G= (n.*124+7196G=)
c.*2162C= (n.*2162C=)
c.1909C= (p.Gln637=)
c.2812C= (p.Gln938=)
c.-282C= (n.-282C=)
c.2632C= (p.Gln878=)
2g.47800798C>GCA346755643FBXO11,MSH6c.2518C>G (p.Gln840Glu)
c.2815C>G (p.Gln939Glu)
n.2899C>G
c.1606+1209C>G (n.1606+1209C>G)
c.2821C>G (p.Gln941Glu)
c.628-2622C>G (n.628-2622C>G)
c.1972C>G (p.Gln658Glu)
c.2425C>G (p.Gln809Glu)
c.169+7397G>C (n.169+7397G>C)
c.*124+7196G>C (n.*124+7196G>C)
c.*2162C>G (n.*2162C>G)
c.1909C>G (p.Gln637Glu)
c.2812C>G (p.Gln938Glu)
c.-282C>G (n.-282C>G)
c.2632C>G (p.Gln878Glu)
 ClinVar dbSNP
2g.47800798C>TCA010943FBXO11,MSH6c.2518C>T (p.Gln840Ter)
c.2815C>T (p.Gln939Ter)
n.2899C>T
c.1606+1209C>T (n.1606+1209C>T)
c.2821C>T (p.Gln941Ter)
c.628-2622C>T (n.628-2622C>T)
c.1972C>T (p.Gln658Ter)
c.2425C>T (p.Gln809Ter)
c.169+7397G>A (n.169+7397G>A)
c.*124+7196G>A (n.*124+7196G>A)
c.*2162C>T (n.*2162C>T)
c.1909C>T (p.Gln637Ter)
c.2812C>T (p.Gln938Ter)
c.-282C>T (n.-282C>T)
c.2632C>T (p.Gln878Ter)
 ClinVar dbSNP COSMIC
2g.47800799A>CCA346755650FBXO11,MSH6c.2519A>C (p.Gln840Pro)
c.2816A>C (p.Gln939Pro)
n.2900A>C
c.1606+1210A>C (n.1606+1210A>C)
c.2822A>C (p.Gln941Pro)
c.628-2621A>C (n.628-2621A>C)
c.1973A>C (p.Gln658Pro)
c.2426A>C (p.Gln809Pro)
c.169+7396T>G (n.169+7396T>G)
c.*124+7195T>G (n.*124+7195T>G)
c.*2163A>C (n.*2163A>C)
c.1910A>C (p.Gln637Pro)
c.2813A>C (p.Gln938Pro)
c.-281A>C (n.-281A>C)
c.2633A>C (p.Gln878Pro)
 gnomAD v4
2g.47800799A>GCA346755646FBXO11,MSH6c.2519A>G (p.Gln840Arg)
c.2816A>G (p.Gln939Arg)
n.2900A>G
c.1606+1210A>G (n.1606+1210A>G)
c.2822A>G (p.Gln941Arg)
c.628-2621A>G (n.628-2621A>G)
c.1973A>G (p.Gln658Arg)
c.2426A>G (p.Gln809Arg)
c.169+7396T>C (n.169+7396T>C)
c.*124+7195T>C (n.*124+7195T>C)
c.*2163A>G (n.*2163A>G)
c.1910A>G (p.Gln637Arg)
c.2813A>G (p.Gln938Arg)
c.-281A>G (n.-281A>G)
c.2633A>G (p.Gln878Arg)
2g.47800799A>TCA346755648FBXO11,MSH6c.2519A>T (p.Gln840Leu)
c.2816A>T (p.Gln939Leu)
n.2900A>T
c.1606+1210A>T (n.1606+1210A>T)
c.2822A>T (p.Gln941Leu)
c.628-2621A>T (n.628-2621A>T)
c.1973A>T (p.Gln658Leu)
c.2426A>T (p.Gln809Leu)
c.169+7396T>A (n.169+7396T>A)
c.*124+7195T>A (n.*124+7195T>A)
c.*2163A>T (n.*2163A>T)
c.1910A>T (p.Gln637Leu)
c.2813A>T (p.Gln938Leu)
c.-281A>T (n.-281A>T)
c.2633A>T (p.Gln878Leu)
 dbSNP
2g.47800800A=CA2496049865FBXO11,MSH6c.2520A= (p.Gln840=)
c.2817A= (p.Gln939=)
n.2901A=
c.1606+1211A= (n.1606+1211A=)
c.2823A= (p.Gln941=)
c.628-2620A= (n.628-2620A=)
c.1974A= (p.Gln658=)
c.2427A= (p.Gln809=)
c.169+7395T= (n.169+7395T=)
c.*124+7194T= (n.*124+7194T=)
c.*2164A= (n.*2164A=)
c.1911A= (p.Gln637=)
c.2814A= (p.Gln938=)
c.-280A= (n.-280A=)
c.2634A= (p.Gln878=)
2g.47800800A>CCA346755652FBXO11,MSH6c.2520A>C (p.Gln840His)
c.2817A>C (p.Gln939His)
n.2901A>C
c.1606+1211A>C (n.1606+1211A>C)
c.2823A>C (p.Gln941His)
c.628-2620A>C (n.628-2620A>C)
c.1974A>C (p.Gln658His)
c.2427A>C (p.Gln809His)
c.169+7395T>G (n.169+7395T>G)
c.*124+7194T>G (n.*124+7194T>G)
c.*2164A>C (n.*2164A>C)
c.1911A>C (p.Gln637His)
c.2814A>C (p.Gln938His)
c.-280A>C (n.-280A>C)
c.2634A>C (p.Gln878His)
 ClinVar dbSNP
2g.47800800A>GCA426121767FBXO11,MSH6c.2520A>G (p.Gln840=)
c.2817A>G (p.Gln939=)
n.2901A>G
c.1606+1211A>G (n.1606+1211A>G)
c.2823A>G (p.Gln941=)
c.628-2620A>G (n.628-2620A>G)
c.1974A>G (p.Gln658=)
c.2427A>G (p.Gln809=)
c.169+7395T>C (n.169+7395T>C)
c.*124+7194T>C (n.*124+7194T>C)
c.*2164A>G (n.*2164A>G)
c.1911A>G (p.Gln637=)
c.2814A>G (p.Gln938=)
c.-280A>G (n.-280A>G)
c.2634A>G (p.Gln878=)
 ClinVar dbSNP gnomAD v4
2g.47800800A>TCA346755654FBXO11,MSH6c.2520A>T (p.Gln840His)
c.2817A>T (p.Gln939His)
n.2901A>T
c.1606+1211A>T (n.1606+1211A>T)
c.2823A>T (p.Gln941His)
c.628-2620A>T (n.628-2620A>T)
c.1974A>T (p.Gln658His)
c.2427A>T (p.Gln809His)
c.169+7395T>A (n.169+7395T>A)
c.*124+7194T>A (n.*124+7194T>A)
c.*2164A>T (n.*2164A>T)
c.1911A>T (p.Gln637His)
c.2814A>T (p.Gln938His)
c.-280A>T (n.-280A>T)
c.2634A>T (p.Gln878His)
 dbSNP
2g.47800801G>ACA346755655FBXO11,MSH6c.2521G>A (p.Ala841Thr)
c.2818G>A (p.Ala940Thr)
n.2902G>A
c.1606+1212G>A (n.1606+1212G>A)
c.2824G>A (p.Ala942Thr)
c.628-2619G>A (n.628-2619G>A)
c.1975G>A (p.Ala659Thr)
c.2428G>A (p.Ala810Thr)
c.169+7394C>T (n.169+7394C>T)
c.*124+7193C>T (n.*124+7193C>T)
c.*2165G>A (n.*2165G>A)
c.1912G>A (p.Ala638Thr)
c.2815G>A (p.Ala939Thr)
c.-279G>A (n.-279G>A)
c.2635G>A (p.Ala879Thr)
 dbSNP
2g.47800801G>CCA346755657FBXO11,MSH6c.2521G>C (p.Ala841Pro)
c.2818G>C (p.Ala940Pro)
n.2902G>C
c.1606+1212G>C (n.1606+1212G>C)
c.2824G>C (p.Ala942Pro)
c.628-2619G>C (n.628-2619G>C)
c.1975G>C (p.Ala659Pro)
c.2428G>C (p.Ala810Pro)
c.169+7394C>G (n.169+7394C>G)
c.*124+7193C>G (n.*124+7193C>G)
c.*2165G>C (n.*2165G>C)
c.1912G>C (p.Ala638Pro)
c.2815G>C (p.Ala939Pro)
c.-279G>C (n.-279G>C)
c.2635G>C (p.Ala879Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47800801G=CA2496049866FBXO11,MSH6c.2521G= (p.Ala841=)
c.2818G= (p.Ala940=)
n.2902G=
c.1606+1212G= (n.1606+1212G=)
c.2824G= (p.Ala942=)
c.628-2619G= (n.628-2619G=)
c.1975G= (p.Ala659=)
c.2428G= (p.Ala810=)
c.169+7394C= (n.169+7394C=)
c.*124+7193C= (n.*124+7193C=)
c.*2165G= (n.*2165G=)
c.1912G= (p.Ala638=)
c.2815G= (p.Ala939=)
c.-279G= (n.-279G=)
c.2635G= (p.Ala879=)
2g.47800801G>TCA069657FBXO11,MSH6c.2521G>T (p.Ala841Ser)
c.2818G>T (p.Ala940Ser)
n.2902G>T
c.1606+1212G>T (n.1606+1212G>T)
c.2824G>T (p.Ala942Ser)
c.628-2619G>T (n.628-2619G>T)
c.1975G>T (p.Ala659Ser)
c.2428G>T (p.Ala810Ser)
c.169+7394C>A (n.169+7394C>A)
c.*124+7193C>A (n.*124+7193C>A)
c.*2165G>T (n.*2165G>T)
c.1912G>T (p.Ala638Ser)
c.2815G>T (p.Ala939Ser)
c.-279G>T (n.-279G>T)
c.2635G>T (p.Ala879Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800802C>ACA346755660FBXO11,MSH6c.2522C>A (p.Ala841Asp)
c.2819C>A (p.Ala940Asp)
n.2903C>A
c.1606+1213C>A (n.1606+1213C>A)
c.2825C>A (p.Ala942Asp)
c.628-2618C>A (n.628-2618C>A)
c.1976C>A (p.Ala659Asp)
c.2429C>A (p.Ala810Asp)
c.169+7393G>T (n.169+7393G>T)
c.*124+7192G>T (n.*124+7192G>T)
c.*2166C>A (n.*2166C>A)
c.1913C>A (p.Ala638Asp)
c.2816C>A (p.Ala939Asp)
c.-278C>A (n.-278C>A)
c.2636C>A (p.Ala879Asp)
 dbSNP
2g.47800802C>GCA346755662FBXO11,MSH6c.2522C>G (p.Ala841Gly)
c.2819C>G (p.Ala940Gly)
n.2903C>G
c.1606+1213C>G (n.1606+1213C>G)
c.2825C>G (p.Ala942Gly)
c.628-2618C>G (n.628-2618C>G)
c.1976C>G (p.Ala659Gly)
c.2429C>G (p.Ala810Gly)
c.169+7393G>C (n.169+7393G>C)
c.*124+7192G>C (n.*124+7192G>C)
c.*2166C>G (n.*2166C>G)
c.1913C>G (p.Ala638Gly)
c.2816C>G (p.Ala939Gly)
c.-278C>G (n.-278C>G)
c.2636C>G (p.Ala879Gly)
 ClinVar dbSNP
2g.47800802C>TCA346755665FBXO11,MSH6c.2522C>T (p.Ala841Val)
c.2819C>T (p.Ala940Val)
n.2903C>T
c.1606+1213C>T (n.1606+1213C>T)
c.2825C>T (p.Ala942Val)
c.628-2618C>T (n.628-2618C>T)
c.1976C>T (p.Ala659Val)
c.2429C>T (p.Ala810Val)
c.169+7393G>A (n.169+7393G>A)
c.*124+7192G>A (n.*124+7192G>A)
c.*2166C>T (n.*2166C>T)
c.1913C>T (p.Ala638Val)
c.2816C>T (p.Ala939Val)
c.-278C>T (n.-278C>T)
c.2636C>T (p.Ala879Val)
 dbSNP gnomAD v4
2g.47800803T>ACA10582070FBXO11,MSH6c.2523T>A (p.Ala841=)
c.2820T>A (p.Ala940=)
n.2904T>A
c.1606+1214T>A (n.1606+1214T>A)
c.2826T>A (p.Ala942=)
c.628-2617T>A (n.628-2617T>A)
c.1977T>A (p.Ala659=)
c.2430T>A (p.Ala810=)
c.169+7392A>T (n.169+7392A>T)
c.*124+7191A>T (n.*124+7191A>T)
c.*2167T>A (n.*2167T>A)
c.1914T>A (p.Ala638=)
c.2817T>A (p.Ala939=)
c.-277T>A (n.-277T>A)
c.2637T>A (p.Ala879=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800803T>CCA426121775FBXO11,MSH6c.2523T>C (p.Ala841=)
c.2820T>C (p.Ala940=)
n.2904T>C
c.1606+1214T>C (n.1606+1214T>C)
c.2826T>C (p.Ala942=)
c.628-2617T>C (n.628-2617T>C)
c.1977T>C (p.Ala659=)
c.2430T>C (p.Ala810=)
c.169+7392A>G (n.169+7392A>G)
c.*124+7191A>G (n.*124+7191A>G)
c.*2167T>C (n.*2167T>C)
c.1914T>C (p.Ala638=)
c.2817T>C (p.Ala939=)
c.-277T>C (n.-277T>C)
c.2637T>C (p.Ala879=)
 dbSNP gnomAD v4
2g.47800803T>GCA46712188FBXO11,MSH6c.2523T>G (p.Ala841=)
c.2820T>G (p.Ala940=)
n.2904T>G
c.1606+1214T>G (n.1606+1214T>G)
c.2826T>G (p.Ala942=)
c.628-2617T>G (n.628-2617T>G)
c.1977T>G (p.Ala659=)
c.2430T>G (p.Ala810=)
c.169+7392A>C (n.169+7392A>C)
c.*124+7191A>C (n.*124+7191A>C)
c.*2167T>G (n.*2167T>G)
c.1914T>G (p.Ala638=)
c.2817T>G (p.Ala939=)
c.-277T>G (n.-277T>G)
c.2637T>G (p.Ala879=)
 dbSNP
2g.47800803T=CA2496049867FBXO11,MSH6c.2523T= (p.Ala841=)
c.2820T= (p.Ala940=)
n.2904T=
c.1606+1214T= (n.1606+1214T=)
c.2826T= (p.Ala942=)
c.628-2617T= (n.628-2617T=)
c.1977T= (p.Ala659=)
c.2430T= (p.Ala810=)
c.169+7392A= (n.169+7392A=)
c.*124+7191A= (n.*124+7191A=)
c.*2167T= (n.*2167T=)
c.1914T= (p.Ala638=)
c.2817T= (p.Ala939=)
c.-277T= (n.-277T=)
c.2637T= (p.Ala879=)
2g.47800804C>ACA346755669FBXO11,MSH6c.2524C>A (p.Leu842Ile)
c.2821C>A (p.Leu941Ile)
n.2905C>A
c.1606+1215C>A (n.1606+1215C>A)
c.2827C>A (p.Leu943Ile)
c.628-2616C>A (n.628-2616C>A)
c.1978C>A (p.Leu660Ile)
c.2431C>A (p.Leu811Ile)
c.169+7391G>T (n.169+7391G>T)
c.*124+7190G>T (n.*124+7190G>T)
c.*2168C>A (n.*2168C>A)
c.1915C>A (p.Leu639Ile)
c.2818C>A (p.Leu940Ile)
c.-276C>A (n.-276C>A)
c.2638C>A (p.Leu880Ile)
2g.47800804C=CA2496049868FBXO11,MSH6c.2524C= (p.Leu842=)
c.2821C= (p.Leu941=)
n.2905C=
c.1606+1215C= (n.1606+1215C=)
c.2827C= (p.Leu943=)
c.628-2616C= (n.628-2616C=)
c.1978C= (p.Leu660=)
c.2431C= (p.Leu811=)
c.169+7391G= (n.169+7391G=)
c.*124+7190G= (n.*124+7190G=)
c.*2168C= (n.*2168C=)
c.1915C= (p.Leu639=)
c.2818C= (p.Leu940=)
c.-276C= (n.-276C=)
c.2638C= (p.Leu880=)
2g.47800804C>GCA346755671FBXO11,MSH6c.2524C>G (p.Leu842Val)
c.2821C>G (p.Leu941Val)
n.2905C>G
c.1606+1215C>G (n.1606+1215C>G)
c.2827C>G (p.Leu943Val)
c.628-2616C>G (n.628-2616C>G)
c.1978C>G (p.Leu660Val)
c.2431C>G (p.Leu811Val)
c.169+7391G>C (n.169+7391G>C)
c.*124+7190G>C (n.*124+7190G>C)
c.*2168C>G (n.*2168C>G)
c.1915C>G (p.Leu639Val)
c.2818C>G (p.Leu940Val)
c.-276C>G (n.-276C>G)
c.2638C>G (p.Leu880Val)
 ClinVar dbSNP gnomAD v4
2g.47800804C>TCA346755673FBXO11,MSH6c.2524C>T (p.Leu842Phe)
c.2821C>T (p.Leu941Phe)
n.2905C>T
c.1606+1215C>T (n.1606+1215C>T)
c.2827C>T (p.Leu943Phe)
c.628-2616C>T (n.628-2616C>T)
c.1978C>T (p.Leu660Phe)
c.2431C>T (p.Leu811Phe)
c.169+7391G>A (n.169+7391G>A)
c.*124+7190G>A (n.*124+7190G>A)
c.*2168C>T (n.*2168C>T)
c.1915C>T (p.Leu639Phe)
c.2818C>T (p.Leu940Phe)
c.-276C>T (n.-276C>T)
c.2638C>T (p.Leu880Phe)
 ClinVar dbSNP gnomAD v4
2g.47800805T>ACA346755678FBXO11,MSH6c.2525T>A (p.Leu842His)
c.2822T>A (p.Leu941His)
n.2906T>A
c.1606+1216T>A (n.1606+1216T>A)
c.2828T>A (p.Leu943His)
c.628-2615T>A (n.628-2615T>A)
c.1979T>A (p.Leu660His)
c.2432T>A (p.Leu811His)
c.169+7390A>T (n.169+7390A>T)
c.*124+7189A>T (n.*124+7189A>T)
c.*2169T>A (n.*2169T>A)
c.1916T>A (p.Leu639His)
c.2819T>A (p.Leu940His)
c.-275T>A (n.-275T>A)
c.2639T>A (p.Leu880His)
 dbSNP
2g.47800805T>CCA346755677FBXO11,MSH6c.2525T>C (p.Leu842Pro)
c.2822T>C (p.Leu941Pro)
n.2906T>C
c.1606+1216T>C (n.1606+1216T>C)
c.2828T>C (p.Leu943Pro)
c.628-2615T>C (n.628-2615T>C)
c.1979T>C (p.Leu660Pro)
c.2432T>C (p.Leu811Pro)
c.169+7390A>G (n.169+7390A>G)
c.*124+7189A>G (n.*124+7189A>G)
c.*2169T>C (n.*2169T>C)
c.1916T>C (p.Leu639Pro)
c.2819T>C (p.Leu940Pro)
c.-275T>C (n.-275T>C)
c.2639T>C (p.Leu880Pro)
2g.47800805T>GCA346755675FBXO11,MSH6c.2525T>G (p.Leu842Arg)
c.2822T>G (p.Leu941Arg)
n.2906T>G
c.1606+1216T>G (n.1606+1216T>G)
c.2828T>G (p.Leu943Arg)
c.628-2615T>G (n.628-2615T>G)
c.1979T>G (p.Leu660Arg)
c.2432T>G (p.Leu811Arg)
c.169+7390A>C (n.169+7390A>C)
c.*124+7189A>C (n.*124+7189A>C)
c.*2169T>G (n.*2169T>G)
c.1916T>G (p.Leu639Arg)
c.2819T>G (p.Leu940Arg)
c.-275T>G (n.-275T>G)
c.2639T>G (p.Leu880Arg)
2g.47800805_47800808delinsTTGCCA2496049869FBXO11,MSH6c.2525_2528delinsTTGC (p.Leu842=)
c.2822_2825delinsTTGC (p.Leu941=)
n.2906_2909delinsTTGC
c.1606+1216_1606+1219delinsTTGC (n.1606+1216_1606+1219delinsTTGC)
c.2828_2831delinsTTGC (p.Leu943=)
c.628-2615_628-2612delinsTTGC (n.628-2615_628-2612delinsTTGC)
c.1979_1982delinsTTGC (p.Leu660=)
c.2432_2435delinsTTGC (p.Leu811=)
c.169+7387_169+7390delinsGCAA (n.169+7387_169+7390delinsGCAA)
c.*124+7186_*124+7189delinsGCAA (n.*124+7186_*124+7189delinsGCAA)
c.*2169_*2172delinsTTGC (n.*2169_*2172delinsTTGC)
c.1916_1919delinsTTGC (p.Leu639=)
c.2819_2822delinsTTGC (p.Leu940=)
c.-275_-272delinsTTGC (n.-275_-272delinsTTGC)
c.2639_2642delinsTTGC (p.Leu880=)
2g.47800806T>ACA426121781FBXO11,MSH6c.2526T>A (p.Leu842=)
c.2823T>A (p.Leu941=)
n.2907T>A
c.1606+1217T>A (n.1606+1217T>A)
c.2829T>A (p.Leu943=)
c.628-2614T>A (n.628-2614T>A)
c.1980T>A (p.Leu660=)
c.2433T>A (p.Leu811=)
c.169+7389A>T (n.169+7389A>T)
c.*124+7188A>T (n.*124+7188A>T)
c.*2170T>A (n.*2170T>A)
c.1917T>A (p.Leu639=)
c.2820T>A (p.Leu940=)
c.-274T>A (n.-274T>A)
c.2640T>A (p.Leu880=)
 ClinVar dbSNP
2g.47800806T>CCA426121782FBXO11,MSH6c.2526T>C (p.Leu842=)
c.2823T>C (p.Leu941=)
n.2907T>C
c.1606+1217T>C (n.1606+1217T>C)
c.2829T>C (p.Leu943=)
c.628-2614T>C (n.628-2614T>C)
c.1980T>C (p.Leu660=)
c.2433T>C (p.Leu811=)
c.169+7389A>G (n.169+7389A>G)
c.*124+7188A>G (n.*124+7188A>G)
c.*2170T>C (n.*2170T>C)
c.1917T>C (p.Leu639=)
c.2820T>C (p.Leu940=)
c.-274T>C (n.-274T>C)
c.2640T>C (p.Leu880=)
2g.47800806T>GCA426121784FBXO11,MSH6c.2526T>G (p.Leu842=)
c.2823T>G (p.Leu941=)
n.2907T>G
c.1606+1217T>G (n.1606+1217T>G)
c.2829T>G (p.Leu943=)
c.628-2614T>G (n.628-2614T>G)
c.1980T>G (p.Leu660=)
c.2433T>G (p.Leu811=)
c.169+7389A>C (n.169+7389A>C)
c.*124+7188A>C (n.*124+7188A>C)
c.*2170T>G (n.*2170T>G)
c.1917T>G (p.Leu639=)
c.2820T>G (p.Leu940=)
c.-274T>G (n.-274T>G)
c.2640T>G (p.Leu880=)
 ClinVar
2g.47800806T=CA2496049870FBXO11,MSH6c.2526T= (p.Leu842=)
c.2823T= (p.Leu941=)
n.2907T=
c.1606+1217T= (n.1606+1217T=)
c.2829T= (p.Leu943=)
c.628-2614T= (n.628-2614T=)
c.1980T= (p.Leu660=)
c.2433T= (p.Leu811=)
c.169+7389A= (n.169+7389A=)
c.*124+7188A= (n.*124+7188A=)
c.*2170T= (n.*2170T=)
c.1917T= (p.Leu639=)
c.2820T= (p.Leu940=)
c.-274T= (n.-274T=)
c.2640T= (p.Leu880=)
2g.47800808_47800810delCA010956FBXO11,MSH6c.2528_2530del (p.Ala843del)
c.2825_2827del (p.Ala942del)
n.2909_2911del
c.1606+1219_1606+1221del (n.1606+1219_1606+1221del)
c.2831_2833del (p.Ala944del)
c.628-2612_628-2610del (n.628-2612_628-2610del)
c.1982_1984del (p.Ala661del)
c.2435_2437del (p.Ala812del)
c.169+7387_169+7389del (n.169+7387_169+7389del)
c.*124+7186_*124+7188del (n.*124+7186_*124+7188del)
c.*2172_*2174del (n.*2172_*2174del)
c.1919_1921del (p.Ala640del)
c.2822_2824del (p.Ala941del)
c.-272_-270del (n.-272_-270del)
c.2642_2644del (p.Ala881del)
 ClinVar dbSNP
2g.47800807G>ACA346755687FBXO11,MSH6c.2527G>A (p.Ala843Thr)
c.2824G>A (p.Ala942Thr)
n.2908G>A
c.1606+1218G>A (n.1606+1218G>A)
c.2830G>A (p.Ala944Thr)
c.628-2613G>A (n.628-2613G>A)
c.1981G>A (p.Ala661Thr)
c.2434G>A (p.Ala812Thr)
c.169+7388C>T (n.169+7388C>T)
c.*124+7187C>T (n.*124+7187C>T)
c.*2171G>A (n.*2171G>A)
c.1918G>A (p.Ala640Thr)
c.2821G>A (p.Ala941Thr)
c.-273G>A (n.-273G>A)
c.2641G>A (p.Ala881Thr)
 ClinVar dbSNP
2g.47800807G>CCA346755688FBXO11,MSH6c.2527G>C (p.Ala843Pro)
c.2824G>C (p.Ala942Pro)
n.2908G>C
c.1606+1218G>C (n.1606+1218G>C)
c.2830G>C (p.Ala944Pro)
c.628-2613G>C (n.628-2613G>C)
c.1981G>C (p.Ala661Pro)
c.2434G>C (p.Ala812Pro)
c.169+7388C>G (n.169+7388C>G)
c.*124+7187C>G (n.*124+7187C>G)
c.*2171G>C (n.*2171G>C)
c.1918G>C (p.Ala640Pro)
c.2821G>C (p.Ala941Pro)
c.-273G>C (n.-273G>C)
c.2641G>C (p.Ala881Pro)
 dbSNP
2g.47800807G>TCA346755686FBXO11,MSH6c.2527G>T (p.Ala843Ser)
c.2824G>T (p.Ala942Ser)
n.2908G>T
c.1606+1218G>T (n.1606+1218G>T)
c.2830G>T (p.Ala944Ser)
c.628-2613G>T (n.628-2613G>T)
c.1981G>T (p.Ala661Ser)
c.2434G>T (p.Ala812Ser)
c.169+7388C>A (n.169+7388C>A)
c.*124+7187C>A (n.*124+7187C>A)
c.*2171G>T (n.*2171G>T)
c.1918G>T (p.Ala640Ser)
c.2821G>T (p.Ala941Ser)
c.-273G>T (n.-273G>T)
c.2641G>T (p.Ala881Ser)
 dbSNP
2g.47800808C>ACA069672FBXO11,MSH6c.2528C>A (p.Ala843Asp)
c.2825C>A (p.Ala942Asp)
n.2909C>A
c.1606+1219C>A (n.1606+1219C>A)
c.2831C>A (p.Ala944Asp)
c.628-2612C>A (n.628-2612C>A)
c.1982C>A (p.Ala661Asp)
c.2435C>A (p.Ala812Asp)
c.169+7387G>T (n.169+7387G>T)
c.*124+7186G>T (n.*124+7186G>T)
c.*2172C>A (n.*2172C>A)
c.1919C>A (p.Ala640Asp)
c.2822C>A (p.Ala941Asp)
c.-272C>A (n.-272C>A)
c.2642C>A (p.Ala881Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800808C=CA2496049871FBXO11,MSH6c.2528C= (p.Ala843=)
c.2825C= (p.Ala942=)
n.2909C=
c.1606+1219C= (n.1606+1219C=)
c.2831C= (p.Ala944=)
c.628-2612C= (n.628-2612C=)
c.1982C= (p.Ala661=)
c.2435C= (p.Ala812=)
c.169+7387G= (n.169+7387G=)
c.*124+7186G= (n.*124+7186G=)
c.*2172C= (n.*2172C=)
c.1919C= (p.Ala640=)
c.2822C= (p.Ala941=)
c.-272C= (n.-272C=)
c.2642C= (p.Ala881=)
2g.47800808C>GCA346755690FBXO11,MSH6c.2528C>G (p.Ala843Gly)
c.2825C>G (p.Ala942Gly)
n.2909C>G
c.1606+1219C>G (n.1606+1219C>G)
c.2831C>G (p.Ala944Gly)
c.628-2612C>G (n.628-2612C>G)
c.1982C>G (p.Ala661Gly)
c.2435C>G (p.Ala812Gly)
c.169+7387G>C (n.169+7387G>C)
c.*124+7186G>C (n.*124+7186G>C)
c.*2172C>G (n.*2172C>G)
c.1919C>G (p.Ala640Gly)
c.2822C>G (p.Ala941Gly)
c.-272C>G (n.-272C>G)
c.2642C>G (p.Ala881Gly)
 dbSNP
2g.47800808C>TCA346755692FBXO11,MSH6c.2528C>T (p.Ala843Val)
c.2825C>T (p.Ala942Val)
n.2909C>T
c.1606+1219C>T (n.1606+1219C>T)
c.2831C>T (p.Ala944Val)
c.628-2612C>T (n.628-2612C>T)
c.1982C>T (p.Ala661Val)
c.2435C>T (p.Ala812Val)
c.169+7387G>A (n.169+7387G>A)
c.*124+7186G>A (n.*124+7186G>A)
c.*2172C>T (n.*2172C>T)
c.1919C>T (p.Ala640Val)
c.2822C>T (p.Ala941Val)
c.-272C>T (n.-272C>T)
c.2642C>T (p.Ala881Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47800808_47800810delinsTGCCA46712199FBXO11,MSH6c.2528_2530delinsTGC (p.Ala843_Asp844delinsValHis)
c.2825_2827delinsTGC (p.Ala942_Asp943delinsValHis)
n.2909_2911delinsTGC
c.1606+1219_1606+1221delinsTGC (n.1606+1219_1606+1221delinsTGC)
c.2831_2833delinsTGC (p.Ala944_Asp945delinsValHis)
c.628-2612_628-2610delinsTGC (n.628-2612_628-2610delinsTGC)
c.1982_1984delinsTGC (p.Ala661_Asp662delinsValHis)
c.2435_2437delinsTGC (p.Ala812_Asp813delinsValHis)
c.169+7385_169+7387delinsGCA (n.169+7385_169+7387delinsGCA)
c.*124+7184_*124+7186delinsGCA (n.*124+7184_*124+7186delinsGCA)
c.*2172_*2174delinsTGC (n.*2172_*2174delinsTGC)
c.1919_1921delinsTGC (p.Ala640_Asp641delinsValHis)
c.2822_2824delinsTGC (p.Ala941_Asp942delinsValHis)
c.-272_-270delinsTGC (n.-272_-270delinsTGC)
c.2642_2644delinsTGC (p.Ala881_Asp882delinsValHis)
2g.47800809T>ACA426121794FBXO11,MSH6c.2529T>A (p.Ala843=)
c.2826T>A (p.Ala942=)
n.2910T>A
c.1606+1220T>A (n.1606+1220T>A)
c.2832T>A (p.Ala944=)
c.628-2611T>A (n.628-2611T>A)
c.1983T>A (p.Ala661=)
c.2436T>A (p.Ala812=)
c.169+7386A>T (n.169+7386A>T)
c.*124+7185A>T (n.*124+7185A>T)
c.*2173T>A (n.*2173T>A)
c.1920T>A (p.Ala640=)
c.2823T>A (p.Ala941=)
c.-271T>A (n.-271T>A)
c.2643T>A (p.Ala881=)
 ClinVar dbSNP
2g.47800809T>CCA426121793FBXO11,MSH6c.2529T>C (p.Ala843=)
c.2826T>C (p.Ala942=)
n.2910T>C
c.1606+1220T>C (n.1606+1220T>C)
c.2832T>C (p.Ala944=)
c.628-2611T>C (n.628-2611T>C)
c.1983T>C (p.Ala661=)
c.2436T>C (p.Ala812=)
c.169+7386A>G (n.169+7386A>G)
c.*124+7185A>G (n.*124+7185A>G)
c.*2173T>C (n.*2173T>C)
c.1920T>C (p.Ala640=)
c.2823T>C (p.Ala941=)
c.-271T>C (n.-271T>C)
c.2643T>C (p.Ala881=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800809T>GCA426121792FBXO11,MSH6c.2529T>G (p.Ala843=)
c.2826T>G (p.Ala942=)
n.2910T>G
c.1606+1220T>G (n.1606+1220T>G)
c.2832T>G (p.Ala944=)
c.628-2611T>G (n.628-2611T>G)
c.1983T>G (p.Ala661=)
c.2436T>G (p.Ala812=)
c.169+7386A>C (n.169+7386A>C)
c.*124+7185A>C (n.*124+7185A>C)
c.*2173T>G (n.*2173T>G)
c.1920T>G (p.Ala640=)
c.2823T>G (p.Ala941=)
c.-271T>G (n.-271T>G)
c.2643T>G (p.Ala881=)
2g.47800809T=CA2496049872FBXO11,MSH6c.2529T= (p.Ala843=)
c.2826T= (p.Ala942=)
n.2910T=
c.1606+1220T= (n.1606+1220T=)
c.2832T= (p.Ala944=)
c.628-2611T= (n.628-2611T=)
c.1983T= (p.Ala661=)
c.2436T= (p.Ala812=)
c.169+7386A= (n.169+7386A=)
c.*124+7185A= (n.*124+7185A=)
c.*2173T= (n.*2173T=)
c.1920T= (p.Ala640=)
c.2823T= (p.Ala941=)
c.-271T= (n.-271T=)
c.2643T= (p.Ala881=)
2g.47800810G>ACA346755695FBXO11,MSH6c.2530G>A (p.Asp844Asn)
c.2827G>A (p.Asp943Asn)
n.2911G>A
c.1606+1221G>A (n.1606+1221G>A)
c.2833G>A (p.Asp945Asn)
c.628-2610G>A (n.628-2610G>A)
c.1984G>A (p.Asp662Asn)
c.2437G>A (p.Asp813Asn)
c.169+7385C>T (n.169+7385C>T)
c.*124+7184C>T (n.*124+7184C>T)
c.*2174G>A (n.*2174G>A)
c.1921G>A (p.Asp641Asn)
c.2824G>A (p.Asp942Asn)
c.-270G>A (n.-270G>A)
c.2644G>A (p.Asp882Asn)
 ClinVar dbSNP
2g.47800810G>CCA346755696FBXO11,MSH6c.2530G>C (p.Asp844His)
c.2827G>C (p.Asp943His)
n.2911G>C
c.1606+1221G>C (n.1606+1221G>C)
c.2833G>C (p.Asp945His)
c.628-2610G>C (n.628-2610G>C)
c.1984G>C (p.Asp662His)
c.2437G>C (p.Asp813His)
c.169+7385C>G (n.169+7385C>G)
c.*124+7184C>G (n.*124+7184C>G)
c.*2174G>C (n.*2174G>C)
c.1921G>C (p.Asp641His)
c.2824G>C (p.Asp942His)
c.-270G>C (n.-270G>C)
c.2644G>C (p.Asp882His)
 ClinVar dbSNP
2g.47800810G=CA2496049873FBXO11,MSH6c.2530G= (p.Asp844=)
c.2827G= (p.Asp943=)
n.2911G=
c.1606+1221G= (n.1606+1221G=)
c.2833G= (p.Asp945=)
c.628-2610G= (n.628-2610G=)
c.1984G= (p.Asp662=)
c.2437G= (p.Asp813=)
c.169+7385C= (n.169+7385C=)
c.*124+7184C= (n.*124+7184C=)
c.*2174G= (n.*2174G=)
c.1921G= (p.Asp641=)
c.2824G= (p.Asp942=)
c.-270G= (n.-270G=)
c.2644G= (p.Asp882=)
2g.47800810G>TCA010974FBXO11,MSH6c.2530G>T (p.Asp844Tyr)
c.2827G>T (p.Asp943Tyr)
n.2911G>T
c.1606+1221G>T (n.1606+1221G>T)
c.2833G>T (p.Asp945Tyr)
c.628-2610G>T (n.628-2610G>T)
c.1984G>T (p.Asp662Tyr)
c.2437G>T (p.Asp813Tyr)
c.169+7385C>A (n.169+7385C>A)
c.*124+7184C>A (n.*124+7184C>A)
c.*2174G>T (n.*2174G>T)
c.1921G>T (p.Asp641Tyr)
c.2824G>T (p.Asp942Tyr)
c.-270G>T (n.-270G>T)
c.2644G>T (p.Asp882Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800811A>CCA346755706FBXO11,MSH6c.2531A>C (p.Asp844Ala)
c.2828A>C (p.Asp943Ala)
n.2912A>C
c.1606+1222A>C (n.1606+1222A>C)
c.2834A>C (p.Asp945Ala)
c.628-2609A>C (n.628-2609A>C)
c.1985A>C (p.Asp662Ala)
c.2438A>C (p.Asp813Ala)
c.169+7384T>G (n.169+7384T>G)
c.*124+7183T>G (n.*124+7183T>G)
c.*2175A>C (n.*2175A>C)
c.1922A>C (p.Asp641Ala)
c.2825A>C (p.Asp942Ala)
c.-269A>C (n.-269A>C)
c.2645A>C (p.Asp882Ala)
 dbSNP
2g.47800811A>GCA346755708FBXO11,MSH6c.2531A>G (p.Asp844Gly)
c.2828A>G (p.Asp943Gly)
n.2912A>G
c.1606+1222A>G (n.1606+1222A>G)
c.2834A>G (p.Asp945Gly)
c.628-2609A>G (n.628-2609A>G)
c.1985A>G (p.Asp662Gly)
c.2438A>G (p.Asp813Gly)
c.169+7384T>C (n.169+7384T>C)
c.*124+7183T>C (n.*124+7183T>C)
c.*2175A>G (n.*2175A>G)
c.1922A>G (p.Asp641Gly)
c.2825A>G (p.Asp942Gly)
c.-269A>G (n.-269A>G)
c.2645A>G (p.Asp882Gly)
 dbSNP
2g.47800811A>TCA346755707FBXO11,MSH6c.2531A>T (p.Asp844Val)
c.2828A>T (p.Asp943Val)
n.2912A>T
c.1606+1222A>T (n.1606+1222A>T)
c.2834A>T (p.Asp945Val)
c.628-2609A>T (n.628-2609A>T)
c.1985A>T (p.Asp662Val)
c.2438A>T (p.Asp813Val)
c.169+7384T>A (n.169+7384T>A)
c.*124+7183T>A (n.*124+7183T>A)
c.*2175A>T (n.*2175A>T)
c.1922A>T (p.Asp641Val)
c.2825A>T (p.Asp942Val)
c.-269A>T (n.-269A>T)
c.2645A>T (p.Asp882Val)
 dbSNP
2g.47800812C>ACA346755709FBXO11,MSH6c.2532C>A (p.Asp844Glu)
c.2829C>A (p.Asp943Glu)
n.2913C>A
c.1606+1223C>A (n.1606+1223C>A)
c.2835C>A (p.Asp945Glu)
c.628-2608C>A (n.628-2608C>A)
c.1986C>A (p.Asp662Glu)
c.2439C>A (p.Asp813Glu)
c.169+7383G>T (n.169+7383G>T)
c.*124+7182G>T (n.*124+7182G>T)
c.*2176C>A (n.*2176C>A)
c.1923C>A (p.Asp641Glu)
c.2826C>A (p.Asp942Glu)
c.-268C>A (n.-268C>A)
c.2646C>A (p.Asp882Glu)
 dbSNP
2g.47800812C>GCA346755710FBXO11,MSH6c.2532C>G (p.Asp844Glu)
c.2829C>G (p.Asp943Glu)
n.2913C>G
c.1606+1223C>G (n.1606+1223C>G)
c.2835C>G (p.Asp945Glu)
c.628-2608C>G (n.628-2608C>G)
c.1986C>G (p.Asp662Glu)
c.2439C>G (p.Asp813Glu)
c.169+7383G>C (n.169+7383G>C)
c.*124+7182G>C (n.*124+7182G>C)
c.*2176C>G (n.*2176C>G)
c.1923C>G (p.Asp641Glu)
c.2826C>G (p.Asp942Glu)
c.-268C>G (n.-268C>G)
c.2646C>G (p.Asp882Glu)
 dbSNP
2g.47800812C>TCA426121798FBXO11,MSH6c.2532C>T (p.Asp844=)
c.2829C>T (p.Asp943=)
n.2913C>T
c.1606+1223C>T (n.1606+1223C>T)
c.2835C>T (p.Asp945=)
c.628-2608C>T (n.628-2608C>T)
c.1986C>T (p.Asp662=)
c.2439C>T (p.Asp813=)
c.169+7383G>A (n.169+7383G>A)
c.*124+7182G>A (n.*124+7182G>A)
c.*2176C>T (n.*2176C>T)
c.1923C>T (p.Asp641=)
c.2826C>T (p.Asp942=)
c.-268C>T (n.-268C>T)
c.2646C>T (p.Asp882=)
 ClinVar dbSNP
2g.47800813delCA2695200585FBXO11,MSH6c.2533del (p.Ile845Ter)
c.2830del (p.Ile944Ter)
n.2914del
c.1606+1224del (n.1606+1224del)
c.2836del (p.Ile946Ter)
c.628-2607del (n.628-2607del)
c.1987del (p.Ile663Ter)
c.2440del (p.Ile814Ter)
c.169+7382del (n.169+7382del)
c.*124+7181del (n.*124+7181del)
c.*2177del (n.*2177del)
c.1924del (p.Ile642Ter)
c.2827del (p.Ile943Ter)
c.-267del (n.-267del)
c.2647del (p.Ile883Ter)
 ClinVar
2g.47800813A=CA2496049874FBXO11,MSH6c.2533A= (p.Ile845=)
c.2830A= (p.Ile944=)
n.2914A=
c.1606+1224A= (n.1606+1224A=)
c.2836A= (p.Ile946=)
c.628-2607A= (n.628-2607A=)
c.1987A= (p.Ile663=)
c.2440A= (p.Ile814=)
c.169+7382T= (n.169+7382T=)
c.*124+7181T= (n.*124+7181T=)
c.*2177A= (n.*2177A=)
c.1924A= (p.Ile642=)
c.2827A= (p.Ile943=)
c.-267A= (n.-267A=)
c.2647A= (p.Ile883=)
2g.47800813A>CCA346755713FBXO11,MSH6c.2533A>C (p.Ile845Leu)
c.2830A>C (p.Ile944Leu)
n.2914A>C
c.1606+1224A>C (n.1606+1224A>C)
c.2836A>C (p.Ile946Leu)
c.628-2607A>C (n.628-2607A>C)
c.1987A>C (p.Ile663Leu)
c.2440A>C (p.Ile814Leu)
c.169+7382T>G (n.169+7382T>G)
c.*124+7181T>G (n.*124+7181T>G)
c.*2177A>C (n.*2177A>C)
c.1924A>C (p.Ile642Leu)
c.2827A>C (p.Ile943Leu)
c.-267A>C (n.-267A>C)
c.2647A>C (p.Ile883Leu)
2g.47800813A>GCA10582071FBXO11,MSH6c.2533A>G (p.Ile845Val)
c.2830A>G (p.Ile944Val)
n.2914A>G
c.1606+1224A>G (n.1606+1224A>G)
c.2836A>G (p.Ile946Val)
c.628-2607A>G (n.628-2607A>G)
c.1987A>G (p.Ile663Val)
c.2440A>G (p.Ile814Val)
c.169+7382T>C (n.169+7382T>C)
c.*124+7181T>C (n.*124+7181T>C)
c.*2177A>G (n.*2177A>G)
c.1924A>G (p.Ile642Val)
c.2827A>G (p.Ile943Val)
c.-267A>G (n.-267A>G)
c.2647A>G (p.Ile883Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.47800813A>TCA346755722FBXO11,MSH6c.2533A>T (p.Ile845Leu)
c.2830A>T (p.Ile944Leu)
n.2914A>T
c.1606+1224A>T (n.1606+1224A>T)
c.2836A>T (p.Ile946Leu)
c.628-2607A>T (n.628-2607A>T)
c.1987A>T (p.Ile663Leu)
c.2440A>T (p.Ile814Leu)
c.169+7382T>A (n.169+7382T>A)
c.*124+7181T>A (n.*124+7181T>A)
c.*2177A>T (n.*2177A>T)
c.1924A>T (p.Ile642Leu)
c.2827A>T (p.Ile943Leu)
c.-267A>T (n.-267A>T)
c.2647A>T (p.Ile883Leu)
 ClinVar dbSNP
2g.47800814_47800815delCA2580068079FBXO11,MSH6c.2534_2535del (p.Ile845LysfsTer4)
c.2831_2832del (p.Ile944LysfsTer4)
n.2915_2916del
c.1606+1225_1606+1226del (n.1606+1225_1606+1226del)
c.2837_2838del (p.Ile946LysfsTer4)
c.628-2606_628-2605del (n.628-2606_628-2605del)
c.1988_1989del (p.Ile663LysfsTer4)
c.2441_2442del (p.Ile814LysfsTer4)
c.169+7381_169+7382del (n.169+7381_169+7382del)
c.*124+7180_*124+7181del (n.*124+7180_*124+7181del)
c.*2178_*2179del (n.*2178_*2179del)
c.1925_1926del (p.Ile642LysfsTer4)
c.2828_2829del (p.Ile943LysfsTer4)
c.-266_-265del (n.-266_-265del)
c.2648_2649del (p.Ile883LysfsTer4)
 ClinVar
2g.47800814_47800818delCA2580068080FBXO11,MSH6c.2534_2538del (p.Ile845ArgfsTer3)
c.2831_2835del (p.Ile944ArgfsTer3)
n.2915_2919del
c.1606+1225_1606+1229del (n.1606+1225_1606+1229del)
c.2837_2841del (p.Ile946ArgfsTer3)
c.628-2606_628-2602del (n.628-2606_628-2602del)
c.1988_1992del (p.Ile663ArgfsTer3)
c.2441_2445del (p.Ile814ArgfsTer3)
c.169+7378_169+7382del (n.169+7378_169+7382del)
c.*124+7177_*124+7181del (n.*124+7177_*124+7181del)
c.*2178_*2182del (n.*2178_*2182del)
c.1925_1929del (p.Ile642ArgfsTer3)
c.2828_2832del (p.Ile943ArgfsTer3)
c.-266_-262del (n.-266_-262del)
c.2648_2652del (p.Ile883ArgfsTer3)
 ClinVar gnomAD v4
2g.47800814delCA2580068081FBXO11,MSH6c.2534del (p.Ile845LysfsTer12)
c.2831del (p.Ile944LysfsTer12)
n.2915del
c.1606+1225del (n.1606+1225del)
c.2837del (p.Ile946LysfsTer12)
c.628-2606del (n.628-2606del)
c.1988del (p.Ile663LysfsTer12)
c.2441del (p.Ile814LysfsTer12)
c.169+7381del (n.169+7381del)
c.*124+7180del (n.*124+7180del)
c.*2178del (n.*2178del)
c.1925del (p.Ile642LysfsTer12)
c.2828del (p.Ile943LysfsTer12)
c.-266del (n.-266del)
c.2648del (p.Ile883LysfsTer12)
 ClinVar
2g.47800814T>ACA346755726FBXO11,MSH6c.2534T>A (p.Ile845Lys)
c.2831T>A (p.Ile944Lys)
n.2915T>A
c.1606+1225T>A (n.1606+1225T>A)
c.2837T>A (p.Ile946Lys)
c.628-2606T>A (n.628-2606T>A)
c.1988T>A (p.Ile663Lys)
c.2441T>A (p.Ile814Lys)
c.169+7381A>T (n.169+7381A>T)
c.*124+7180A>T (n.*124+7180A>T)
c.*2178T>A (n.*2178T>A)
c.1925T>A (p.Ile642Lys)
c.2828T>A (p.Ile943Lys)
c.-266T>A (n.-266T>A)
c.2648T>A (p.Ile883Lys)
2g.47800814T>CCA346755732FBXO11,MSH6c.2534T>C (p.Ile845Thr)
c.2831T>C (p.Ile944Thr)
n.2915T>C
c.1606+1225T>C (n.1606+1225T>C)
c.2837T>C (p.Ile946Thr)
c.628-2606T>C (n.628-2606T>C)
c.1988T>C (p.Ile663Thr)
c.2441T>C (p.Ile814Thr)
c.169+7381A>G (n.169+7381A>G)
c.*124+7180A>G (n.*124+7180A>G)
c.*2178T>C (n.*2178T>C)
c.1925T>C (p.Ile642Thr)
c.2828T>C (p.Ile943Thr)
c.-266T>C (n.-266T>C)
c.2648T>C (p.Ile883Thr)
2g.47800814T>GCA346755729FBXO11,MSH6c.2534T>G (p.Ile845Arg)
c.2831T>G (p.Ile944Arg)
n.2915T>G
c.1606+1225T>G (n.1606+1225T>G)
c.2837T>G (p.Ile946Arg)
c.628-2606T>G (n.628-2606T>G)
c.1988T>G (p.Ile663Arg)
c.2441T>G (p.Ile814Arg)
c.169+7381A>C (n.169+7381A>C)
c.*124+7180A>C (n.*124+7180A>C)
c.*2178T>G (n.*2178T>G)
c.1925T>G (p.Ile642Arg)
c.2828T>G (p.Ile943Arg)
c.-266T>G (n.-266T>G)
c.2648T>G (p.Ile883Arg)
2g.47800814dupCA2580068082FBXO11,MSH6c.2534dup (p.Arg846LysfsTer4)
c.2831dup (p.Arg945LysfsTer4)
n.2915dup
c.1606+1225dup (n.1606+1225dup)
c.2837dup (p.Arg947LysfsTer4)
c.628-2606dup (n.628-2606dup)
c.1988dup (p.Arg664LysfsTer4)
c.2441dup (p.Arg815LysfsTer4)
c.169+7381dup (n.169+7381dup)
c.*124+7180dup (n.*124+7180dup)
c.*2178dup (n.*2178dup)
c.1925dup (p.Arg643LysfsTer4)
c.2828dup (p.Arg944LysfsTer4)
c.-266dup (n.-266dup)
c.2648dup (p.Arg884LysfsTer4)
 ClinVar
2g.47800814_47800816delinsTAACA2496049875FBXO11,MSH6c.2534_2536delinsTAA (p.Ile845=)
c.2831_2833delinsTAA (p.Ile944=)
n.2915_2917delinsTAA
c.1606+1225_1606+1227delinsTAA (n.1606+1225_1606+1227delinsTAA)
c.2837_2839delinsTAA (p.Ile946=)
c.628-2606_628-2604delinsTAA (n.628-2606_628-2604delinsTAA)
c.1988_1990delinsTAA (p.Ile663=)
c.2441_2443delinsTAA (p.Ile814=)
c.169+7379_169+7381delinsTTA (n.169+7379_169+7381delinsTTA)
c.*124+7178_*124+7180delinsTTA (n.*124+7178_*124+7180delinsTTA)
c.*2178_*2180delinsTAA (n.*2178_*2180delinsTAA)
c.1925_1927delinsTAA (p.Ile642=)
c.2828_2830delinsTAA (p.Ile943=)
c.-266_-264delinsTAA (n.-266_-264delinsTAA)
c.2648_2650delinsTAA (p.Ile883=)
2g.47800814_47800817delinsTAAGCA2496049876FBXO11,MSH6c.2534_2537delinsTAAG (p.Ile845=)
c.2831_2834delinsTAAG (p.Ile944=)
n.2915_2918delinsTAAG
c.1606+1225_1606+1228delinsTAAG (n.1606+1225_1606+1228delinsTAAG)
c.2837_2840delinsTAAG (p.Ile946=)
c.628-2606_628-2603delinsTAAG (n.628-2606_628-2603delinsTAAG)
c.1988_1991delinsTAAG (p.Ile663=)
c.2441_2444delinsTAAG (p.Ile814=)
c.169+7378_169+7381delinsCTTA (n.169+7378_169+7381delinsCTTA)
c.*124+7177_*124+7180delinsCTTA (n.*124+7177_*124+7180delinsCTTA)
c.*2178_*2181delinsTAAG (n.*2178_*2181delinsTAAG)
c.1925_1928delinsTAAG (p.Ile642=)
c.2828_2831delinsTAAG (p.Ile943=)
c.-266_-263delinsTAAG (n.-266_-263delinsTAAG)
c.2648_2651delinsTAAG (p.Ile883=)
2g.47800815A>CCA426121801FBXO11,MSH6c.2535A>C (p.Ile845=)
c.2832A>C (p.Ile944=)
n.2916A>C
c.1606+1226A>C (n.1606+1226A>C)
c.2838A>C (p.Ile946=)
c.628-2605A>C (n.628-2605A>C)
c.1989A>C (p.Ile663=)
c.2442A>C (p.Ile814=)
c.169+7380T>G (n.169+7380T>G)
c.*124+7179T>G (n.*124+7179T>G)
c.*2179A>C (n.*2179A>C)
c.1926A>C (p.Ile642=)
c.2829A>C (p.Ile943=)
c.-265A>C (n.-265A>C)
c.2649A>C (p.Ile883=)
2g.47800815A>GCA346755734FBXO11,MSH6c.2535A>G (p.Ile845Met)
c.2832A>G (p.Ile944Met)
n.2916A>G
c.1606+1226A>G (n.1606+1226A>G)
c.2838A>G (p.Ile946Met)
c.628-2605A>G (n.628-2605A>G)
c.1989A>G (p.Ile663Met)
c.2442A>G (p.Ile814Met)
c.169+7380T>C (n.169+7380T>C)
c.*124+7179T>C (n.*124+7179T>C)
c.*2179A>G (n.*2179A>G)
c.1926A>G (p.Ile642Met)
c.2829A>G (p.Ile943Met)
c.-265A>G (n.-265A>G)
c.2649A>G (p.Ile883Met)
 ClinVar gnomAD v4
2g.47800815A>TCA426121802FBXO11,MSH6c.2535A>T (p.Ile845=)
c.2832A>T (p.Ile944=)
n.2916A>T
c.1606+1226A>T (n.1606+1226A>T)
c.2838A>T (p.Ile946=)
c.628-2605A>T (n.628-2605A>T)
c.1989A>T (p.Ile663=)
c.2442A>T (p.Ile814=)
c.169+7380T>A (n.169+7380T>A)
c.*124+7179T>A (n.*124+7179T>A)
c.*2179A>T (n.*2179A>T)
c.1926A>T (p.Ile642=)
c.2829A>T (p.Ile943=)
c.-265A>T (n.-265A>T)
c.2649A>T (p.Ile883=)
2g.47800815_47800816delCA010983FBXO11,MSH6c.2535_2536del (p.Ile845MetfsTer4)
c.2832_2833del (p.Ile944MetfsTer4)
n.2916_2917del
c.1606+1226_1606+1227del (n.1606+1226_1606+1227del)
c.2838_2839del (p.Ile946MetfsTer4)
c.628-2605_628-2604del (n.628-2605_628-2604del)
c.1989_1990del (p.Ile663MetfsTer4)
c.2442_2443del (p.Ile814MetfsTer4)
c.169+7379_169+7380del (n.169+7379_169+7380del)
c.*124+7178_*124+7179del (n.*124+7178_*124+7179del)
c.*2179_*2180del (n.*2179_*2180del)
c.1926_1927del (p.Ile642MetfsTer4)
c.2829_2830del (p.Ile943MetfsTer4)
c.-265_-264del (n.-265_-264del)
c.2649_2650del (p.Ile883MetfsTer4)
 ClinVar dbSNP
2g.47800816_47800818delCA658795731FBXO11,MSH6c.2536_2538del (p.Arg846del)
c.2833_2835del (p.Arg945del)
n.2917_2919del
c.1606+1227_1606+1229del (n.1606+1227_1606+1229del)
c.2839_2841del (p.Arg947del)
c.628-2604_628-2602del (n.628-2604_628-2602del)
c.1990_1992del (p.Arg664del)
c.2443_2445del (p.Arg815del)
c.169+7378_169+7380del (n.169+7378_169+7380del)
c.*124+7177_*124+7179del (n.*124+7177_*124+7179del)
c.*2180_*2182del (n.*2180_*2182del)
c.1927_1929del (p.Arg643del)
c.2830_2832del (p.Arg944del)
c.-264_-262del (n.-264_-262del)
c.2650_2652del (p.Arg884del)
 ClinVar dbSNP
2g.47800816A>CCA426121804FBXO11,MSH6c.2536A>C (p.Arg846=)
c.2833A>C (p.Arg945=)
n.2917A>C
c.1606+1227A>C (n.1606+1227A>C)
c.2839A>C (p.Arg947=)
c.628-2604A>C (n.628-2604A>C)
c.1990A>C (p.Arg664=)
c.2443A>C (p.Arg815=)
c.169+7379T>G (n.169+7379T>G)
c.*124+7178T>G (n.*124+7178T>G)
c.*2180A>C (n.*2180A>C)
c.1927A>C (p.Arg643=)
c.2830A>C (p.Arg944=)
c.-264A>C (n.-264A>C)
c.2650A>C (p.Arg884=)
 ClinVar dbSNP gnomAD v4
2g.47800816A>GCA346755736FBXO11,MSH6c.2536A>G (p.Arg846Gly)
c.2833A>G (p.Arg945Gly)
n.2917A>G
c.1606+1227A>G (n.1606+1227A>G)
c.2839A>G (p.Arg947Gly)
c.628-2604A>G (n.628-2604A>G)
c.1990A>G (p.Arg664Gly)
c.2443A>G (p.Arg815Gly)
c.169+7379T>C (n.169+7379T>C)
c.*124+7178T>C (n.*124+7178T>C)
c.*2180A>G (n.*2180A>G)
c.1927A>G (p.Arg643Gly)
c.2830A>G (p.Arg944Gly)
c.-264A>G (n.-264A>G)
c.2650A>G (p.Arg884Gly)
 ClinVar dbSNP
2g.47800816A>TCA346755738FBXO11,MSH6c.2536A>T (p.Arg846Ter)
c.2833A>T (p.Arg945Ter)
n.2917A>T
c.1606+1227A>T (n.1606+1227A>T)
c.2839A>T (p.Arg947Ter)
c.628-2604A>T (n.628-2604A>T)
c.1990A>T (p.Arg664Ter)
c.2443A>T (p.Arg815Ter)
c.169+7379T>A (n.169+7379T>A)
c.*124+7178T>A (n.*124+7178T>A)
c.*2180A>T (n.*2180A>T)
c.1927A>T (p.Arg643Ter)
c.2830A>T (p.Arg944Ter)
c.-264A>T (n.-264A>T)
c.2650A>T (p.Arg884Ter)
 dbSNP
2g.47800819_47800820delCA2497029995FBXO11,MSH6c.2539_2540del (p.Glu847LysfsTer2)
c.2836_2837del (p.Glu946LysfsTer2)
n.2920_2921del
c.1606+1230_1606+1231del (n.1606+1230_1606+1231del)
c.2842_2843del (p.Glu948LysfsTer2)
c.628-2601_628-2600del (n.628-2601_628-2600del)
c.1993_1994del (p.Glu665LysfsTer2)
c.2446_2447del (p.Glu816LysfsTer2)
c.169+7378_169+7379del (n.169+7378_169+7379del)
c.*124+7177_*124+7178del (n.*124+7177_*124+7178del)
c.*2183_*2184del (n.*2183_*2184del)
c.1930_1931del (p.Glu644LysfsTer2)
c.2833_2834del (p.Glu945LysfsTer2)
c.-261_-260del (n.-261_-260del)
c.2653_2654del (p.Glu885LysfsTer2)
 ClinVar
2g.47800817G>ACA346755740FBXO11,MSH6c.2537G>A (p.Arg846Lys)
c.2834G>A (p.Arg945Lys)
n.2918G>A
c.1606+1228G>A (n.1606+1228G>A)
c.2840G>A (p.Arg947Lys)
c.628-2603G>A (n.628-2603G>A)
c.1991G>A (p.Arg664Lys)
c.2444G>A (p.Arg815Lys)
c.169+7378C>T (n.169+7378C>T)
c.*124+7177C>T (n.*124+7177C>T)
c.*2181G>A (n.*2181G>A)
c.1928G>A (p.Arg643Lys)
c.2831G>A (p.Arg944Lys)
c.-263G>A (n.-263G>A)
c.2651G>A (p.Arg884Lys)
 ClinVar dbSNP
2g.47800817G>CCA346755743FBXO11,MSH6c.2537G>C (p.Arg846Thr)
c.2834G>C (p.Arg945Thr)
n.2918G>C
c.1606+1228G>C (n.1606+1228G>C)
c.2840G>C (p.Arg947Thr)
c.628-2603G>C (n.628-2603G>C)
c.1991G>C (p.Arg664Thr)
c.2444G>C (p.Arg815Thr)
c.169+7378C>G (n.169+7378C>G)
c.*124+7177C>G (n.*124+7177C>G)
c.*2181G>C (n.*2181G>C)
c.1928G>C (p.Arg643Thr)
c.2831G>C (p.Arg944Thr)
c.-263G>C (n.-263G>C)
c.2651G>C (p.Arg884Thr)
 gnomAD v4
2g.47800817G>TCA346755745FBXO11,MSH6c.2537G>T (p.Arg846Ile)
c.2834G>T (p.Arg945Ile)
n.2918G>T
c.1606+1228G>T (n.1606+1228G>T)
c.2840G>T (p.Arg947Ile)
c.628-2603G>T (n.628-2603G>T)
c.1991G>T (p.Arg664Ile)
c.2444G>T (p.Arg815Ile)
c.169+7378C>A (n.169+7378C>A)
c.*124+7177C>A (n.*124+7177C>A)
c.*2181G>T (n.*2181G>T)
c.1928G>T (p.Arg643Ile)
c.2831G>T (p.Arg944Ile)
c.-263G>T (n.-263G>T)
c.2651G>T (p.Arg884Ile)
2g.47800817_47800828delinsACA2695200586FBXO11,MSH6c.2537_2548delinsA (p.Arg846LysfsTer17)
c.2834_2845delinsA (p.Arg945LysfsTer17)
n.2918_2929delinsA
c.1606+1228_1606+1239delinsA (n.1606+1228_1606+1239delinsA)
c.2840_2851delinsA (p.Arg947LysfsTer17)
c.628-2603_628-2592delinsA (n.628-2603_628-2592delinsA)
c.1991_2002delinsA (p.Arg664LysfsTer17)
c.2444_2455delinsA (p.Arg815LysfsTer17)
c.169+7367_169+7378delinsT (n.169+7367_169+7378delinsT)
c.*124+7166_*124+7177delinsT (n.*124+7166_*124+7177delinsT)
c.*2181_*2192delinsA (n.*2181_*2192delinsA)
c.1928_1939delinsA (p.Arg643LysfsTer17)
c.2831_2842delinsA (p.Arg944LysfsTer17)
c.-263_-252delinsA (n.-263_-252delinsA)
c.2651_2662delinsA (p.Arg884LysfsTer17)
 ClinVar
2g.47800818A>CCA346755747FBXO11,MSH6c.2538A>C (p.Arg846Ser)
c.2835A>C (p.Arg945Ser)
n.2919A>C
c.1606+1229A>C (n.1606+1229A>C)
c.2841A>C (p.Arg947Ser)
c.628-2602A>C (n.628-2602A>C)
c.1992A>C (p.Arg664Ser)
c.2445A>C (p.Arg815Ser)
c.169+7377T>G (n.169+7377T>G)
c.*124+7176T>G (n.*124+7176T>G)
c.*2182A>C (n.*2182A>C)
c.1929A>C (p.Arg643Ser)
c.2832A>C (p.Arg944Ser)
c.-262A>C (n.-262A>C)
c.2652A>C (p.Arg884Ser)
2g.47800818A>GCA426121810FBXO11,MSH6c.2538A>G (p.Arg846=)
c.2835A>G (p.Arg945=)
n.2919A>G
c.1606+1229A>G (n.1606+1229A>G)
c.2841A>G (p.Arg947=)
c.628-2602A>G (n.628-2602A>G)
c.1992A>G (p.Arg664=)
c.2445A>G (p.Arg815=)
c.169+7377T>C (n.169+7377T>C)
c.*124+7176T>C (n.*124+7176T>C)
c.*2182A>G (n.*2182A>G)
c.1929A>G (p.Arg643=)
c.2832A>G (p.Arg944=)
c.-262A>G (n.-262A>G)
c.2652A>G (p.Arg884=)
 dbSNP
2g.47800818A>TCA346755748FBXO11,MSH6c.2538A>T (p.Arg846Ser)
c.2835A>T (p.Arg945Ser)
n.2919A>T
c.1606+1229A>T (n.1606+1229A>T)
c.2841A>T (p.Arg947Ser)
c.628-2602A>T (n.628-2602A>T)
c.1992A>T (p.Arg664Ser)
c.2445A>T (p.Arg815Ser)
c.169+7377T>A (n.169+7377T>A)
c.*124+7176T>A (n.*124+7176T>A)
c.*2182A>T (n.*2182A>T)
c.1929A>T (p.Arg643Ser)
c.2832A>T (p.Arg944Ser)
c.-262A>T (n.-262A>T)
c.2652A>T (p.Arg884Ser)
2g.47800819delCA2580068083FBXO11,MSH6c.2539del (p.Glu847LysfsTer10)
c.2836del (p.Glu946LysfsTer10)
n.2920del
c.1606+1230del (n.1606+1230del)
c.2842del (p.Glu948LysfsTer10)
c.628-2601del (n.628-2601del)
c.1993del (p.Glu665LysfsTer10)
c.2446del (p.Glu816LysfsTer10)
c.169+7376del (n.169+7376del)
c.*124+7175del (n.*124+7175del)
c.*2183del (n.*2183del)
c.1930del (p.Glu644LysfsTer10)
c.2833del (p.Glu945LysfsTer10)
c.-261del (n.-261del)
c.2653del (p.Glu885LysfsTer10)
 ClinVar
2g.47800819G>ACA346755756FBXO11,MSH6c.2539G>A (p.Glu847Lys)
c.2836G>A (p.Glu946Lys)
n.2920G>A
c.1606+1230G>A (n.1606+1230G>A)
c.2842G>A (p.Glu948Lys)
c.628-2601G>A (n.628-2601G>A)
c.1993G>A (p.Glu665Lys)
c.2446G>A (p.Glu816Lys)
c.169+7376C>T (n.169+7376C>T)
c.*124+7175C>T (n.*124+7175C>T)
c.*2183G>A (n.*2183G>A)
c.1930G>A (p.Glu644Lys)
c.2833G>A (p.Glu945Lys)
c.-261G>A (n.-261G>A)
c.2653G>A (p.Glu885Lys)
 dbSNP
2g.47800819G>CCA346755757FBXO11,MSH6c.2539G>C (p.Glu847Gln)
c.2836G>C (p.Glu946Gln)
n.2920G>C
c.1606+1230G>C (n.1606+1230G>C)
c.2842G>C (p.Glu948Gln)
c.628-2601G>C (n.628-2601G>C)
c.1993G>C (p.Glu665Gln)
c.2446G>C (p.Glu816Gln)
c.169+7376C>G (n.169+7376C>G)
c.*124+7175C>G (n.*124+7175C>G)
c.*2183G>C (n.*2183G>C)
c.1930G>C (p.Glu644Gln)
c.2833G>C (p.Glu945Gln)
c.-261G>C (n.-261G>C)
c.2653G>C (p.Glu885Gln)
2g.47800819G=CA2496049877FBXO11,MSH6c.2539G= (p.Glu847=)
c.2836G= (p.Glu946=)
n.2920G=
c.1606+1230G= (n.1606+1230G=)
c.2842G= (p.Glu948=)
c.628-2601G= (n.628-2601G=)
c.1993G= (p.Glu665=)
c.2446G= (p.Glu816=)
c.169+7376C= (n.169+7376C=)
c.*124+7175C= (n.*124+7175C=)
c.*2183G= (n.*2183G=)
c.1930G= (p.Glu644=)
c.2833G= (p.Glu945=)
c.-261G= (n.-261G=)
c.2653G= (p.Glu885=)
2g.47800819G>TCA346755759FBXO11,MSH6c.2539G>T (p.Glu847Ter)
c.2836G>T (p.Glu946Ter)
n.2920G>T
c.1606+1230G>T (n.1606+1230G>T)
c.2842G>T (p.Glu948Ter)
c.628-2601G>T (n.628-2601G>T)
c.1993G>T (p.Glu665Ter)
c.2446G>T (p.Glu816Ter)
c.169+7376C>A (n.169+7376C>A)
c.*124+7175C>A (n.*124+7175C>A)
c.*2183G>T (n.*2183G>T)
c.1930G>T (p.Glu644Ter)
c.2833G>T (p.Glu945Ter)
c.-261G>T (n.-261G>T)
c.2653G>T (p.Glu885Ter)
 ClinVar dbSNP COSMIC
2g.47800820A=CA2496049878FBXO11,MSH6c.2540A= (p.Glu847=)
c.2837A= (p.Glu946=)
n.2921A=
c.1606+1231A= (n.1606+1231A=)
c.2843A= (p.Glu948=)
c.628-2600A= (n.628-2600A=)
c.1994A= (p.Glu665=)
c.2447A= (p.Glu816=)
c.169+7375T= (n.169+7375T=)
c.*124+7174T= (n.*124+7174T=)
c.*2184A= (n.*2184A=)
c.1931A= (p.Glu644=)
c.2834A= (p.Glu945=)
c.-260A= (n.-260A=)
c.2654A= (p.Glu885=)
2g.47800820A>CCA346755762FBXO11,MSH6c.2540A>C (p.Glu847Ala)
c.2837A>C (p.Glu946Ala)
n.2921A>C
c.1606+1231A>C (n.1606+1231A>C)
c.2843A>C (p.Glu948Ala)
c.628-2600A>C (n.628-2600A>C)
c.1994A>C (p.Glu665Ala)
c.2447A>C (p.Glu816Ala)
c.169+7375T>G (n.169+7375T>G)
c.*124+7174T>G (n.*124+7174T>G)
c.*2184A>C (n.*2184A>C)
c.1931A>C (p.Glu644Ala)
c.2834A>C (p.Glu945Ala)
c.-260A>C (n.-260A>C)
c.2654A>C (p.Glu885Ala)
 dbSNP
2g.47800820A>GCA346755767FBXO11,MSH6c.2540A>G (p.Glu847Gly)
c.2837A>G (p.Glu946Gly)
n.2921A>G
c.1606+1231A>G (n.1606+1231A>G)
c.2843A>G (p.Glu948Gly)
c.628-2600A>G (n.628-2600A>G)
c.1994A>G (p.Glu665Gly)
c.2447A>G (p.Glu816Gly)
c.169+7375T>C (n.169+7375T>C)
c.*124+7174T>C (n.*124+7174T>C)
c.*2184A>G (n.*2184A>G)
c.1931A>G (p.Glu644Gly)
c.2834A>G (p.Glu945Gly)
c.-260A>G (n.-260A>G)
c.2654A>G (p.Glu885Gly)
 ClinVar dbSNP
2g.47800820A>TCA346755764FBXO11,MSH6c.2540A>T (p.Glu847Val)
c.2837A>T (p.Glu946Val)
n.2921A>T
c.1606+1231A>T (n.1606+1231A>T)
c.2843A>T (p.Glu948Val)
c.628-2600A>T (n.628-2600A>T)
c.1994A>T (p.Glu665Val)
c.2447A>T (p.Glu816Val)
c.169+7375T>A (n.169+7375T>A)
c.*124+7174T>A (n.*124+7174T>A)
c.*2184A>T (n.*2184A>T)
c.1931A>T (p.Glu644Val)
c.2834A>T (p.Glu945Val)
c.-260A>T (n.-260A>T)
c.2654A>T (p.Glu885Val)
 ClinVar dbSNP
2g.47800821A=CA2496049879FBXO11,MSH6c.2541A= (p.Glu847=)
c.2838A= (p.Glu946=)
n.2922A=
c.1606+1232A= (n.1606+1232A=)
c.2844A= (p.Glu948=)
c.628-2599A= (n.628-2599A=)
c.1995A= (p.Glu665=)
c.2448A= (p.Glu816=)
c.169+7374T= (n.169+7374T=)
c.*124+7173T= (n.*124+7173T=)
c.*2185A= (n.*2185A=)
c.1932A= (p.Glu644=)
c.2835A= (p.Glu945=)
c.-259A= (n.-259A=)
c.2655A= (p.Glu885=)
2g.47800821A>CCA346755778FBXO11,MSH6c.2541A>C (p.Glu847Asp)
c.2838A>C (p.Glu946Asp)
n.2922A>C
c.1606+1232A>C (n.1606+1232A>C)
c.2844A>C (p.Glu948Asp)
c.628-2599A>C (n.628-2599A>C)
c.1995A>C (p.Glu665Asp)
c.2448A>C (p.Glu816Asp)
c.169+7374T>G (n.169+7374T>G)
c.*124+7173T>G (n.*124+7173T>G)
c.*2185A>C (n.*2185A>C)
c.1932A>C (p.Glu644Asp)
c.2835A>C (p.Glu945Asp)
c.-259A>C (n.-259A>C)
c.2655A>C (p.Glu885Asp)
 ClinVar dbSNP
2g.47800821A>GCA10578120FBXO11,MSH6c.2541A>G (p.Glu847=)
c.2838A>G (p.Glu946=)
n.2922A>G
c.1606+1232A>G (n.1606+1232A>G)
c.2844A>G (p.Glu948=)
c.628-2599A>G (n.628-2599A>G)
c.1995A>G (p.Glu665=)
c.2448A>G (p.Glu816=)
c.169+7374T>C (n.169+7374T>C)
c.*124+7173T>C (n.*124+7173T>C)
c.*2185A>G (n.*2185A>G)
c.1932A>G (p.Glu644=)
c.2835A>G (p.Glu945=)
c.-259A>G (n.-259A>G)
c.2655A>G (p.Glu885=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800821A>TCA346755783FBXO11,MSH6c.2541A>T (p.Glu847Asp)
c.2838A>T (p.Glu946Asp)
n.2922A>T
c.1606+1232A>T (n.1606+1232A>T)
c.2844A>T (p.Glu948Asp)
c.628-2599A>T (n.628-2599A>T)
c.1995A>T (p.Glu665Asp)
c.2448A>T (p.Glu816Asp)
c.169+7374T>A (n.169+7374T>A)
c.*124+7173T>A (n.*124+7173T>A)
c.*2185A>T (n.*2185A>T)
c.1932A>T (p.Glu644Asp)
c.2835A>T (p.Glu945Asp)
c.-259A>T (n.-259A>T)
c.2655A>T (p.Glu885Asp)
2g.47800822A>CCA346755787FBXO11,MSH6c.2542A>C (p.Asn848His)
c.2839A>C (p.Asn947His)
n.2923A>C
c.1606+1233A>C (n.1606+1233A>C)
c.2845A>C (p.Asn949His)
c.628-2598A>C (n.628-2598A>C)
c.1996A>C (p.Asn666His)
c.2449A>C (p.Asn817His)
c.169+7373T>G (n.169+7373T>G)
c.*124+7172T>G (n.*124+7172T>G)
c.*2186A>C (n.*2186A>C)
c.1933A>C (p.Asn645His)
c.2836A>C (p.Asn946His)
c.-258A>C (n.-258A>C)
c.2656A>C (p.Asn886His)
2g.47800822A>GCA346755789FBXO11,MSH6c.2542A>G (p.Asn848Asp)
c.2839A>G (p.Asn947Asp)
n.2923A>G
c.1606+1233A>G (n.1606+1233A>G)
c.2845A>G (p.Asn949Asp)
c.628-2598A>G (n.628-2598A>G)
c.1996A>G (p.Asn666Asp)
c.2449A>G (p.Asn817Asp)
c.169+7373T>C (n.169+7373T>C)
c.*124+7172T>C (n.*124+7172T>C)
c.*2186A>G (n.*2186A>G)
c.1933A>G (p.Asn645Asp)
c.2836A>G (p.Asn946Asp)
c.-258A>G (n.-258A>G)
c.2656A>G (p.Asn886Asp)
 ClinVar dbSNP
2g.47800822A>TCA346755792FBXO11,MSH6c.2542A>T (p.Asn848Tyr)
c.2839A>T (p.Asn947Tyr)
n.2923A>T
c.1606+1233A>T (n.1606+1233A>T)
c.2845A>T (p.Asn949Tyr)
c.628-2598A>T (n.628-2598A>T)
c.1996A>T (p.Asn666Tyr)
c.2449A>T (p.Asn817Tyr)
c.169+7373T>A (n.169+7373T>A)
c.*124+7172T>A (n.*124+7172T>A)
c.*2186A>T (n.*2186A>T)
c.1933A>T (p.Asn645Tyr)
c.2836A>T (p.Asn946Tyr)
c.-258A>T (n.-258A>T)
c.2656A>T (p.Asn886Tyr)
 dbSNP
2g.47800823A>CCA346755798FBXO11,MSH6c.2543A>C (p.Asn848Thr)
c.2840A>C (p.Asn947Thr)
n.2924A>C
c.1606+1234A>C (n.1606+1234A>C)
c.2846A>C (p.Asn949Thr)
c.628-2597A>C (n.628-2597A>C)
c.1997A>C (p.Asn666Thr)
c.2450A>C (p.Asn817Thr)
c.169+7372T>G (n.169+7372T>G)
c.*124+7171T>G (n.*124+7171T>G)
c.*2187A>C (n.*2187A>C)
c.1934A>C (p.Asn645Thr)
c.2837A>C (p.Asn946Thr)
c.-257A>C (n.-257A>C)
c.2657A>C (p.Asn886Thr)
2g.47800823A>GCA346755795FBXO11,MSH6c.2543A>G (p.Asn848Ser)
c.2840A>G (p.Asn947Ser)
n.2924A>G
c.1606+1234A>G (n.1606+1234A>G)
c.2846A>G (p.Asn949Ser)
c.628-2597A>G (n.628-2597A>G)
c.1997A>G (p.Asn666Ser)
c.2450A>G (p.Asn817Ser)
c.169+7372T>C (n.169+7372T>C)
c.*124+7171T>C (n.*124+7171T>C)
c.*2187A>G (n.*2187A>G)
c.1934A>G (p.Asn645Ser)
c.2837A>G (p.Asn946Ser)
c.-257A>G (n.-257A>G)
c.2657A>G (p.Asn886Ser)
 ClinVar dbSNP
2g.47800823A>TCA346755797FBXO11,MSH6c.2543A>T (p.Asn848Ile)
c.2840A>T (p.Asn947Ile)
n.2924A>T
c.1606+1234A>T (n.1606+1234A>T)
c.2846A>T (p.Asn949Ile)
c.628-2597A>T (n.628-2597A>T)
c.1997A>T (p.Asn666Ile)
c.2450A>T (p.Asn817Ile)
c.169+7372T>A (n.169+7372T>A)
c.*124+7171T>A (n.*124+7171T>A)
c.*2187A>T (n.*2187A>T)
c.1934A>T (p.Asn645Ile)
c.2837A>T (p.Asn946Ile)
c.-257A>T (n.-257A>T)
c.2657A>T (p.Asn886Ile)
 dbSNP
2g.47800824T>ACA346755799FBXO11,MSH6c.2544T>A (p.Asn848Lys)
c.2841T>A (p.Asn947Lys)
n.2925T>A
c.1606+1235T>A (n.1606+1235T>A)
c.2847T>A (p.Asn949Lys)
c.628-2596T>A (n.628-2596T>A)
c.1998T>A (p.Asn666Lys)
c.2451T>A (p.Asn817Lys)
c.169+7371A>T (n.169+7371A>T)
c.*124+7170A>T (n.*124+7170A>T)
c.*2188T>A (n.*2188T>A)
c.1935T>A (p.Asn645Lys)
c.2838T>A (p.Asn946Lys)
c.-256T>A (n.-256T>A)
c.2658T>A (p.Asn886Lys)
 dbSNP
2g.47800824T>CCA16604324FBXO11,MSH6c.2544T>C (p.Asn848=)
c.2841T>C (p.Asn947=)
n.2925T>C
c.1606+1235T>C (n.1606+1235T>C)
c.2847T>C (p.Asn949=)
c.628-2596T>C (n.628-2596T>C)
c.1998T>C (p.Asn666=)
c.2451T>C (p.Asn817=)
c.169+7371A>G (n.169+7371A>G)
c.*124+7170A>G (n.*124+7170A>G)
c.*2188T>C (n.*2188T>C)
c.1935T>C (p.Asn645=)
c.2838T>C (p.Asn946=)
c.-256T>C (n.-256T>C)
c.2658T>C (p.Asn886=)
 ClinVar dbSNP gnomAD v4
2g.47800824T>GCA346755802FBXO11,MSH6c.2544T>G (p.Asn848Lys)
c.2841T>G (p.Asn947Lys)
n.2925T>G
c.1606+1235T>G (n.1606+1235T>G)
c.2847T>G (p.Asn949Lys)
c.628-2596T>G (n.628-2596T>G)
c.1998T>G (p.Asn666Lys)
c.2451T>G (p.Asn817Lys)
c.169+7371A>C (n.169+7371A>C)
c.*124+7170A>C (n.*124+7170A>C)
c.*2188T>G (n.*2188T>G)
c.1935T>G (p.Asn645Lys)
c.2838T>G (p.Asn946Lys)
c.-256T>G (n.-256T>G)
c.2658T>G (p.Asn886Lys)
 dbSNP
2g.47800824T=CA2496049880FBXO11,MSH6c.2544T= (p.Asn848=)
c.2841T= (p.Asn947=)
n.2925T=
c.1606+1235T= (n.1606+1235T=)
c.2847T= (p.Asn949=)
c.628-2596T= (n.628-2596T=)
c.1998T= (p.Asn666=)
c.2451T= (p.Asn817=)
c.169+7371A= (n.169+7371A=)
c.*124+7170A= (n.*124+7170A=)
c.*2188T= (n.*2188T=)
c.1935T= (p.Asn645=)
c.2838T= (p.Asn946=)
c.-256T= (n.-256T=)
c.2658T= (p.Asn886=)
2g.47800825G>ACA346755805FBXO11,MSH6c.2545G>A (p.Glu849Lys)
c.2842G>A (p.Glu948Lys)
n.2926G>A
c.1606+1236G>A (n.1606+1236G>A)
c.2848G>A (p.Glu950Lys)
c.628-2595G>A (n.628-2595G>A)
c.1999G>A (p.Glu667Lys)
c.2452G>A (p.Glu818Lys)
c.169+7370C>T (n.169+7370C>T)
c.*124+7169C>T (n.*124+7169C>T)
c.*2189G>A (n.*2189G>A)
c.1936G>A (p.Glu646Lys)
c.2839G>A (p.Glu947Lys)
c.-255G>A (n.-255G>A)
c.2659G>A (p.Glu887Lys)
 dbSNP
2g.47800825G>CCA346755806FBXO11,MSH6c.2545G>C (p.Glu849Gln)
c.2842G>C (p.Glu948Gln)
n.2926G>C
c.1606+1236G>C (n.1606+1236G>C)
c.2848G>C (p.Glu950Gln)
c.628-2595G>C (n.628-2595G>C)
c.1999G>C (p.Glu667Gln)
c.2452G>C (p.Glu818Gln)
c.169+7370C>G (n.169+7370C>G)
c.*124+7169C>G (n.*124+7169C>G)
c.*2189G>C (n.*2189G>C)
c.1936G>C (p.Glu646Gln)
c.2839G>C (p.Glu947Gln)
c.-255G>C (n.-255G>C)
c.2659G>C (p.Glu887Gln)
 dbSNP gnomAD v4
2g.47800825G=CA2496049881FBXO11,MSH6c.2545G= (p.Glu849=)
c.2842G= (p.Glu948=)
n.2926G=
c.1606+1236G= (n.1606+1236G=)
c.2848G= (p.Glu950=)
c.628-2595G= (n.628-2595G=)
c.1999G= (p.Glu667=)
c.2452G= (p.Glu818=)
c.169+7370C= (n.169+7370C=)
c.*124+7169C= (n.*124+7169C=)
c.*2189G= (n.*2189G=)
c.1936G= (p.Glu646=)
c.2839G= (p.Glu947=)
c.-255G= (n.-255G=)
c.2659G= (p.Glu887=)
2g.47800825G>TCA346755807FBXO11,MSH6c.2545G>T (p.Glu849Ter)
c.2842G>T (p.Glu948Ter)
n.2926G>T
c.1606+1236G>T (n.1606+1236G>T)
c.2848G>T (p.Glu950Ter)
c.628-2595G>T (n.628-2595G>T)
c.1999G>T (p.Glu667Ter)
c.2452G>T (p.Glu818Ter)
c.169+7370C>A (n.169+7370C>A)
c.*124+7169C>A (n.*124+7169C>A)
c.*2189G>T (n.*2189G>T)
c.1936G>T (p.Glu646Ter)
c.2839G>T (p.Glu947Ter)
c.-255G>T (n.-255G>T)
c.2659G>T (p.Glu887Ter)
 ClinVar dbSNP
2g.47800826A=CA2496049883FBXO11,MSH6c.2546A= (p.Glu849=)
c.2843A= (p.Glu948=)
n.2927A=
c.1606+1237A= (n.1606+1237A=)
c.2849A= (p.Glu950=)
c.628-2594A= (n.628-2594A=)
c.2000A= (p.Glu667=)
c.2453A= (p.Glu818=)
c.169+7369T= (n.169+7369T=)
c.*124+7168T= (n.*124+7168T=)
c.*2190A= (n.*2190A=)
c.1937A= (p.Glu646=)
c.2840A= (p.Glu947=)
c.-254A= (n.-254A=)
c.2660A= (p.Glu887=)
2g.47800826A>CCA346755808FBXO11,MSH6c.2546A>C (p.Glu849Ala)
c.2843A>C (p.Glu948Ala)
n.2927A>C
c.1606+1237A>C (n.1606+1237A>C)
c.2849A>C (p.Glu950Ala)
c.628-2594A>C (n.628-2594A>C)
c.2000A>C (p.Glu667Ala)
c.2453A>C (p.Glu818Ala)
c.169+7369T>G (n.169+7369T>G)
c.*124+7168T>G (n.*124+7168T>G)
c.*2190A>C (n.*2190A>C)
c.1937A>C (p.Glu646Ala)
c.2840A>C (p.Glu947Ala)
c.-254A>C (n.-254A>C)
c.2660A>C (p.Glu887Ala)
 dbSNP
2g.47800826A>GCA346755811FBXO11,MSH6c.2546A>G (p.Glu849Gly)
c.2843A>G (p.Glu948Gly)
n.2927A>G
c.1606+1237A>G (n.1606+1237A>G)
c.2849A>G (p.Glu950Gly)
c.628-2594A>G (n.628-2594A>G)
c.2000A>G (p.Glu667Gly)
c.2453A>G (p.Glu818Gly)
c.169+7369T>C (n.169+7369T>C)
c.*124+7168T>C (n.*124+7168T>C)
c.*2190A>G (n.*2190A>G)
c.1937A>G (p.Glu646Gly)
c.2840A>G (p.Glu947Gly)
c.-254A>G (n.-254A>G)
c.2660A>G (p.Glu887Gly)
 dbSNP
2g.47800826A>TCA346755810FBXO11,MSH6c.2546A>T (p.Glu849Val)
c.2843A>T (p.Glu948Val)
n.2927A>T
c.1606+1237A>T (n.1606+1237A>T)
c.2849A>T (p.Glu950Val)
c.628-2594A>T (n.628-2594A>T)
c.2000A>T (p.Glu667Val)
c.2453A>T (p.Glu818Val)
c.169+7369T>A (n.169+7369T>A)
c.*124+7168T>A (n.*124+7168T>A)
c.*2190A>T (n.*2190A>T)
c.1937A>T (p.Glu646Val)
c.2840A>T (p.Glu947Val)
c.-254A>T (n.-254A>T)
c.2660A>T (p.Glu887Val)
 dbSNP gnomAD v3 gnomAD v4
2g.47800826_47800828delinsAACCA2496049882FBXO11,MSH6c.2546_2548delinsAAC (p.Glu849=)
c.2843_2845delinsAAC (p.Glu948=)
n.2927_2929delinsAAC
c.1606+1237_1606+1239delinsAAC (n.1606+1237_1606+1239delinsAAC)
c.2849_2851delinsAAC (p.Glu950=)
c.628-2594_628-2592delinsAAC (n.628-2594_628-2592delinsAAC)
c.2000_2002delinsAAC (p.Glu667=)
c.2453_2455delinsAAC (p.Glu818=)
c.169+7367_169+7369delinsGTT (n.169+7367_169+7369delinsGTT)
c.*124+7166_*124+7168delinsGTT (n.*124+7166_*124+7168delinsGTT)
c.*2190_*2192delinsAAC (n.*2190_*2192delinsAAC)
c.1937_1939delinsAAC (p.Glu646=)
c.2840_2842delinsAAC (p.Glu947=)
c.-254_-252delinsAAC (n.-254_-252delinsAAC)
c.2660_2662delinsAAC (p.Glu887=)
2g.47800826_47800829delCA2697548133FBXO11,MSH6c.2546_2549del (p.Glu849GlyfsTer7)
c.2843_2846del (p.Glu948GlyfsTer7)
n.2927_2930del
c.1606+1237_1606+1240del (n.1606+1237_1606+1240del)
c.2849_2852del (p.Glu950GlyfsTer7)
c.628-2594_628-2591del (n.628-2594_628-2591del)
c.2000_2003del (p.Glu667GlyfsTer7)
c.2453_2456del (p.Glu818GlyfsTer7)
c.169+7366_169+7369del (n.169+7366_169+7369del)
c.*124+7165_*124+7168del (n.*124+7165_*124+7168del)
c.*2190_*2193del (n.*2190_*2193del)
c.1937_1940del (p.Glu646GlyfsTer7)
c.2840_2843del (p.Glu947GlyfsTer7)
c.-254_-251del (n.-254_-251del)
c.2660_2663del (p.Glu887GlyfsTer7)
 ClinVar
2g.47800827A=CA2496049884FBXO11,MSH6c.2547A= (p.Glu849=)
c.2844A= (p.Glu948=)
n.2928A=
c.1606+1238A= (n.1606+1238A=)
c.2850A= (p.Glu950=)
c.628-2593A= (n.628-2593A=)
c.2001A= (p.Glu667=)
c.2454A= (p.Glu818=)
c.169+7368T= (n.169+7368T=)
c.*124+7167T= (n.*124+7167T=)
c.*2191A= (n.*2191A=)
c.1938A= (p.Glu646=)
c.2841A= (p.Glu947=)
c.-253A= (n.-253A=)
c.2661A= (p.Glu887=)
2g.47800827A>CCA346755818FBXO11,MSH6c.2547A>C (p.Glu849Asp)
c.2844A>C (p.Glu948Asp)
n.2928A>C
c.1606+1238A>C (n.1606+1238A>C)
c.2850A>C (p.Glu950Asp)
c.628-2593A>C (n.628-2593A>C)
c.2001A>C (p.Glu667Asp)
c.2454A>C (p.Glu818Asp)
c.169+7368T>G (n.169+7368T>G)
c.*124+7167T>G (n.*124+7167T>G)
c.*2191A>C (n.*2191A>C)
c.1938A>C (p.Glu646Asp)
c.2841A>C (p.Glu947Asp)
c.-253A>C (n.-253A>C)
c.2661A>C (p.Glu887Asp)
 dbSNP
2g.47800827A>GCA426121826FBXO11,MSH6c.2547A>G (p.Glu849=)
c.2844A>G (p.Glu948=)
n.2928A>G
c.1606+1238A>G (n.1606+1238A>G)
c.2850A>G (p.Glu950=)
c.628-2593A>G (n.628-2593A>G)
c.2001A>G (p.Glu667=)
c.2454A>G (p.Glu818=)
c.169+7368T>C (n.169+7368T>C)
c.*124+7167T>C (n.*124+7167T>C)
c.*2191A>G (n.*2191A>G)
c.1938A>G (p.Glu646=)
c.2841A>G (p.Glu947=)
c.-253A>G (n.-253A>G)
c.2661A>G (p.Glu887=)
 ClinVar dbSNP COSMIC
2g.47800827A>TCA346755821FBXO11,MSH6c.2547A>T (p.Glu849Asp)
c.2844A>T (p.Glu948Asp)
n.2928A>T
c.1606+1238A>T (n.1606+1238A>T)
c.2850A>T (p.Glu950Asp)
c.628-2593A>T (n.628-2593A>T)
c.2001A>T (p.Glu667Asp)
c.2454A>T (p.Glu818Asp)
c.169+7368T>A (n.169+7368T>A)
c.*124+7167T>A (n.*124+7167T>A)
c.*2191A>T (n.*2191A>T)
c.1938A>T (p.Glu646Asp)
c.2841A>T (p.Glu947Asp)
c.-253A>T (n.-253A>T)
c.2661A>T (p.Glu887Asp)
 ClinVar dbSNP
2g.47800828_47800829delCA915943935FBXO11,MSH6c.2548_2549del (p.Gln850GlufsTer16)
c.2845_2846del (p.Gln949GlufsTer16)
n.2929_2930del
c.1606+1239_1606+1240del (n.1606+1239_1606+1240del)
c.2851_2852del (p.Gln951GlufsTer16)
c.628-2592_628-2591del (n.628-2592_628-2591del)
c.2002_2003del (p.Gln668GlufsTer16)
c.2455_2456del (p.Gln819GlufsTer16)
c.169+7367_169+7368del (n.169+7367_169+7368del)
c.*124+7166_*124+7167del (n.*124+7166_*124+7167del)
c.*2192_*2193del (n.*2192_*2193del)
c.1939_1940del (p.Gln647GlufsTer16)
c.2842_2843del (p.Gln948GlufsTer16)
c.-252_-251del (n.-252_-251del)
c.2662_2663del (p.Gln888GlufsTer16)
 ClinVar dbSNP
2g.47800828C>ACA346755825FBXO11,MSH6c.2548C>A (p.Gln850Lys)
c.2845C>A (p.Gln949Lys)
n.2929C>A
c.1606+1239C>A (n.1606+1239C>A)
c.2851C>A (p.Gln951Lys)
c.628-2592C>A (n.628-2592C>A)
c.2002C>A (p.Gln668Lys)
c.2455C>A (p.Gln819Lys)
c.169+7367G>T (n.169+7367G>T)
c.*124+7166G>T (n.*124+7166G>T)
c.*2192C>A (n.*2192C>A)
c.1939C>A (p.Gln647Lys)
c.2842C>A (p.Gln948Lys)
c.-252C>A (n.-252C>A)
c.2662C>A (p.Gln888Lys)
 dbSNP
2g.47800828C=CA2496049886FBXO11,MSH6c.2548C= (p.Gln850=)
c.2845C= (p.Gln949=)
n.2929C=
c.1606+1239C= (n.1606+1239C=)
c.2851C= (p.Gln951=)
c.628-2592C= (n.628-2592C=)
c.2002C= (p.Gln668=)
c.2455C= (p.Gln819=)
c.169+7367G= (n.169+7367G=)
c.*124+7166G= (n.*124+7166G=)
c.*2192C= (n.*2192C=)
c.1939C= (p.Gln647=)
c.2842C= (p.Gln948=)
c.-252C= (n.-252C=)
c.2662C= (p.Gln888=)
2g.47800828C>GCA10582072FBXO11,MSH6c.2548C>G (p.Gln850Glu)
c.2845C>G (p.Gln949Glu)
n.2929C>G
c.1606+1239C>G (n.1606+1239C>G)
c.2851C>G (p.Gln951Glu)
c.628-2592C>G (n.628-2592C>G)
c.2002C>G (p.Gln668Glu)
c.2455C>G (p.Gln819Glu)
c.169+7367G>C (n.169+7367G>C)
c.*124+7166G>C (n.*124+7166G>C)
c.*2192C>G (n.*2192C>G)
c.1939C>G (p.Gln647Glu)
c.2842C>G (p.Gln948Glu)
c.-252C>G (n.-252C>G)
c.2662C>G (p.Gln888Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47800828C>TCA346755827FBXO11,MSH6c.2548C>T (p.Gln850Ter)
c.2845C>T (p.Gln949Ter)
n.2929C>T
c.1606+1239C>T (n.1606+1239C>T)
c.2851C>T (p.Gln951Ter)
c.628-2592C>T (n.628-2592C>T)
c.2002C>T (p.Gln668Ter)
c.2455C>T (p.Gln819Ter)
c.169+7367G>A (n.169+7367G>A)
c.*124+7166G>A (n.*124+7166G>A)
c.*2192C>T (n.*2192C>T)
c.1939C>T (p.Gln647Ter)
c.2842C>T (p.Gln948Ter)
c.-252C>T (n.-252C>T)
c.2662C>T (p.Gln888Ter)
 ClinVar dbSNP gnomAD v4
2g.47800828dupCA2580068085FBXO11,MSH6c.2548dup (p.Gln850ProfsTer17)
c.2845dup (p.Gln949ProfsTer17)
n.2929dup
c.1606+1239dup (n.1606+1239dup)
c.2851dup (p.Gln951ProfsTer17)
c.628-2592dup (n.628-2592dup)
c.2002dup (p.Gln668ProfsTer17)
c.2455dup (p.Gln819ProfsTer17)
c.169+7367dup (n.169+7367dup)
c.*124+7166dup (n.*124+7166dup)
c.*2192dup (n.*2192dup)
c.1939dup (p.Gln647ProfsTer17)
c.2842dup (p.Gln948ProfsTer17)
c.-252dup (n.-252dup)
c.2662dup (p.Gln888ProfsTer17)
 ClinVar
2g.47800828_47800830delinsCAGCA2496049885FBXO11,MSH6c.2548_2550delinsCAG (p.Gln850=)
c.2845_2847delinsCAG (p.Gln949=)
n.2929_2931delinsCAG
c.1606+1239_1606+1241delinsCAG (n.1606+1239_1606+1241delinsCAG)
c.2851_2853delinsCAG (p.Gln951=)
c.628-2592_628-2590delinsCAG (n.628-2592_628-2590delinsCAG)
c.2002_2004delinsCAG (p.Gln668=)
c.2455_2457delinsCAG (p.Gln819=)
c.169+7365_169+7367delinsCTG (n.169+7365_169+7367delinsCTG)
c.*124+7164_*124+7166delinsCTG (n.*124+7164_*124+7166delinsCTG)
c.*2192_*2194delinsCAG (n.*2192_*2194delinsCAG)
c.1939_1941delinsCAG (p.Gln647=)
c.2842_2844delinsCAG (p.Gln948=)
c.-252_-250delinsCAG (n.-252_-250delinsCAG)
c.2662_2664delinsCAG (p.Gln888=)
2g.47800829A=CA2496049887FBXO11,MSH6c.2549A= (p.Gln850=)
c.2846A= (p.Gln949=)
n.2930A=
c.1606+1240A= (n.1606+1240A=)
c.2852A= (p.Gln951=)
c.628-2591A= (n.628-2591A=)
c.2003A= (p.Gln668=)
c.2456A= (p.Gln819=)
c.169+7366T= (n.169+7366T=)
c.*124+7165T= (n.*124+7165T=)
c.*2193A= (n.*2193A=)
c.1940A= (p.Gln647=)
c.2843A= (p.Gln948=)
c.-251A= (n.-251A=)
c.2663A= (p.Gln888=)
2g.47800829A>CCA346755831FBXO11,MSH6c.2549A>C (p.Gln850Pro)
c.2846A>C (p.Gln949Pro)
n.2930A>C
c.1606+1240A>C (n.1606+1240A>C)
c.2852A>C (p.Gln951Pro)
c.628-2591A>C (n.628-2591A>C)
c.2003A>C (p.Gln668Pro)
c.2456A>C (p.Gln819Pro)
c.169+7366T>G (n.169+7366T>G)
c.*124+7165T>G (n.*124+7165T>G)
c.*2193A>C (n.*2193A>C)
c.1940A>C (p.Gln647Pro)
c.2843A>C (p.Gln948Pro)
c.-251A>C (n.-251A>C)
c.2663A>C (p.Gln888Pro)
2g.47800829A>GCA346755834FBXO11,MSH6c.2549A>G (p.Gln850Arg)
c.2846A>G (p.Gln949Arg)
n.2930A>G
c.1606+1240A>G (n.1606+1240A>G)
c.2852A>G (p.Gln951Arg)
c.628-2591A>G (n.628-2591A>G)
c.2003A>G (p.Gln668Arg)
c.2456A>G (p.Gln819Arg)
c.169+7366T>C (n.169+7366T>C)
c.*124+7165T>C (n.*124+7165T>C)
c.*2193A>G (n.*2193A>G)
c.1940A>G (p.Gln647Arg)
c.2843A>G (p.Gln948Arg)
c.-251A>G (n.-251A>G)
c.2663A>G (p.Gln888Arg)
 ClinVar dbSNP
2g.47800829A>TCA346755839FBXO11,MSH6c.2549A>T (p.Gln850Leu)
c.2846A>T (p.Gln949Leu)
n.2930A>T
c.1606+1240A>T (n.1606+1240A>T)
c.2852A>T (p.Gln951Leu)
c.628-2591A>T (n.628-2591A>T)
c.2003A>T (p.Gln668Leu)
c.2456A>T (p.Gln819Leu)
c.169+7366T>A (n.169+7366T>A)
c.*124+7165T>A (n.*124+7165T>A)
c.*2193A>T (n.*2193A>T)
c.1940A>T (p.Gln647Leu)
c.2843A>T (p.Gln948Leu)
c.-251A>T (n.-251A>T)
c.2663A>T (p.Gln888Leu)
 dbSNP
2g.47800831_47800832delCA357801FBXO11,MSH6c.2551_2552del (p.Ser851ProfsTer15)
c.2848_2849del (p.Ser950ProfsTer15)
n.2932_2933del
c.1606+1242_1606+1243del (n.1606+1242_1606+1243del)
c.2854_2855del (p.Ser952ProfsTer15)
c.628-2589_628-2588del (n.628-2589_628-2588del)
c.2005_2006del (p.Ser669ProfsTer15)
c.2458_2459del (p.Ser820ProfsTer15)
c.169+7365_169+7366del (n.169+7365_169+7366del)
c.*124+7164_*124+7165del (n.*124+7164_*124+7165del)
c.*2195_*2196del (n.*2195_*2196del)
c.1942_1943del (p.Ser648ProfsTer15)
c.2845_2846del (p.Ser949ProfsTer15)
c.-249_-248del (n.-249_-248del)
c.2665_2666del (p.Ser889ProfsTer15)
 ClinVar dbSNP
2g.47800830G>ACA426121836FBXO11,MSH6c.2550G>A (p.Gln850=)
c.2847G>A (p.Gln949=)
n.2931G>A
c.1606+1241G>A (n.1606+1241G>A)
c.2853G>A (p.Gln951=)
c.628-2590G>A (n.628-2590G>A)
c.2004G>A (p.Gln668=)
c.2457G>A (p.Gln819=)
c.169+7365C>T (n.169+7365C>T)
c.*124+7164C>T (n.*124+7164C>T)
c.*2194G>A (n.*2194G>A)
c.1941G>A (p.Gln647=)
c.2844G>A (p.Gln948=)
c.-250G>A (n.-250G>A)
c.2664G>A (p.Gln888=)
 ClinVar dbSNP gnomAD v4
2g.47800830G>CCA346755843FBXO11,MSH6c.2550G>C (p.Gln850His)
c.2847G>C (p.Gln949His)
n.2931G>C
c.1606+1241G>C (n.1606+1241G>C)
c.2853G>C (p.Gln951His)
c.628-2590G>C (n.628-2590G>C)
c.2004G>C (p.Gln668His)
c.2457G>C (p.Gln819His)
c.169+7365C>G (n.169+7365C>G)
c.*124+7164C>G (n.*124+7164C>G)
c.*2194G>C (n.*2194G>C)
c.1941G>C (p.Gln647His)
c.2844G>C (p.Gln948His)
c.-250G>C (n.-250G>C)
c.2664G>C (p.Gln888His)
 ClinVar dbSNP
2g.47800830G=CA2496049888FBXO11,MSH6c.2550G= (p.Gln850=)
c.2847G= (p.Gln949=)
n.2931G=
c.1606+1241G= (n.1606+1241G=)
c.2853G= (p.Gln951=)
c.628-2590G= (n.628-2590G=)
c.2004G= (p.Gln668=)
c.2457G= (p.Gln819=)
c.169+7365C= (n.169+7365C=)
c.*124+7164C= (n.*124+7164C=)
c.*2194G= (n.*2194G=)
c.1941G= (p.Gln647=)
c.2844G= (p.Gln948=)
c.-250G= (n.-250G=)
c.2664G= (p.Gln888=)
2g.47800830G>TCA346755846FBXO11,MSH6c.2550G>T (p.Gln850His)
c.2847G>T (p.Gln949His)
n.2931G>T
c.1606+1241G>T (n.1606+1241G>T)
c.2853G>T (p.Gln951His)
c.628-2590G>T (n.628-2590G>T)
c.2004G>T (p.Gln668His)
c.2457G>T (p.Gln819His)
c.169+7365C>A (n.169+7365C>A)
c.*124+7164C>A (n.*124+7164C>A)
c.*2194G>T (n.*2194G>T)
c.1941G>T (p.Gln647His)
c.2844G>T (p.Gln948His)
c.-250G>T (n.-250G>T)
c.2664G>T (p.Gln888His)
 dbSNP gnomAD v3 gnomAD v4
2g.47800831A>CCA346755852FBXO11,MSH6c.2551A>C (p.Ser851Arg)
c.2848A>C (p.Ser950Arg)
n.2932A>C
c.1606+1242A>C (n.1606+1242A>C)
c.2854A>C (p.Ser952Arg)
c.628-2589A>C (n.628-2589A>C)
c.2005A>C (p.Ser669Arg)
c.2458A>C (p.Ser820Arg)
c.169+7364T>G (n.169+7364T>G)
c.*124+7163T>G (n.*124+7163T>G)
c.*2195A>C (n.*2195A>C)
c.1942A>C (p.Ser648Arg)
c.2845A>C (p.Ser949Arg)
c.-249A>C (n.-249A>C)
c.2665A>C (p.Ser889Arg)
2g.47800831A>GCA346755851FBXO11,MSH6c.2551A>G (p.Ser851Gly)
c.2848A>G (p.Ser950Gly)
n.2932A>G
c.1606+1242A>G (n.1606+1242A>G)
c.2854A>G (p.Ser952Gly)
c.628-2589A>G (n.628-2589A>G)
c.2005A>G (p.Ser669Gly)
c.2458A>G (p.Ser820Gly)
c.169+7364T>C (n.169+7364T>C)
c.*124+7163T>C (n.*124+7163T>C)
c.*2195A>G (n.*2195A>G)
c.1942A>G (p.Ser648Gly)
c.2845A>G (p.Ser949Gly)
c.-249A>G (n.-249A>G)
c.2665A>G (p.Ser889Gly)
2g.47800831A>TCA346755849FBXO11,MSH6c.2551A>T (p.Ser851Cys)
c.2848A>T (p.Ser950Cys)
n.2932A>T
c.1606+1242A>T (n.1606+1242A>T)
c.2854A>T (p.Ser952Cys)
c.628-2589A>T (n.628-2589A>T)
c.2005A>T (p.Ser669Cys)
c.2458A>T (p.Ser820Cys)
c.169+7364T>A (n.169+7364T>A)
c.*124+7163T>A (n.*124+7163T>A)
c.*2195A>T (n.*2195A>T)
c.1942A>T (p.Ser648Cys)
c.2845A>T (p.Ser949Cys)
c.-249A>T (n.-249A>T)
c.2665A>T (p.Ser889Cys)
 dbSNP
2g.47800832G>ACA346755854FBXO11,MSH6c.2552G>A (p.Ser851Asn)
c.2849G>A (p.Ser950Asn)
n.2933G>A
c.1606+1243G>A (n.1606+1243G>A)
c.2855G>A (p.Ser952Asn)
c.628-2588G>A (n.628-2588G>A)
c.2006G>A (p.Ser669Asn)
c.2459G>A (p.Ser820Asn)
c.169+7363C>T (n.169+7363C>T)
c.*124+7162C>T (n.*124+7162C>T)
c.*2196G>A (n.*2196G>A)
c.1943G>A (p.Ser648Asn)
c.2846G>A (p.Ser949Asn)
c.-248G>A (n.-248G>A)
c.2666G>A (p.Ser889Asn)
 ClinVar dbSNP
2g.47800832G>CCA346755857FBXO11,MSH6c.2552G>C (p.Ser851Thr)
c.2849G>C (p.Ser950Thr)
n.2933G>C
c.1606+1243G>C (n.1606+1243G>C)
c.2855G>C (p.Ser952Thr)
c.628-2588G>C (n.628-2588G>C)
c.2006G>C (p.Ser669Thr)
c.2459G>C (p.Ser820Thr)
c.169+7363C>G (n.169+7363C>G)
c.*124+7162C>G (n.*124+7162C>G)
c.*2196G>C (n.*2196G>C)
c.1943G>C (p.Ser648Thr)
c.2846G>C (p.Ser949Thr)
c.-248G>C (n.-248G>C)
c.2666G>C (p.Ser889Thr)
 ClinVar dbSNP
2g.47800832G=CA2496049889FBXO11,MSH6c.2552G= (p.Ser851=)
c.2849G= (p.Ser950=)
n.2933G=
c.1606+1243G= (n.1606+1243G=)
c.2855G= (p.Ser952=)
c.628-2588G= (n.628-2588G=)
c.2006G= (p.Ser669=)
c.2459G= (p.Ser820=)
c.169+7363C= (n.169+7363C=)
c.*124+7162C= (n.*124+7162C=)
c.*2196G= (n.*2196G=)
c.1943G= (p.Ser648=)
c.2846G= (p.Ser949=)
c.-248G= (n.-248G=)
c.2666G= (p.Ser889=)
2g.47800832G>TCA346755858FBXO11,MSH6c.2552G>T (p.Ser851Ile)
c.2849G>T (p.Ser950Ile)
n.2933G>T
c.1606+1243G>T (n.1606+1243G>T)
c.2855G>T (p.Ser952Ile)
c.628-2588G>T (n.628-2588G>T)
c.2006G>T (p.Ser669Ile)
c.2459G>T (p.Ser820Ile)
c.169+7363C>A (n.169+7363C>A)
c.*124+7162C>A (n.*124+7162C>A)
c.*2196G>T (n.*2196G>T)
c.1943G>T (p.Ser648Ile)
c.2846G>T (p.Ser949Ile)
c.-248G>T (n.-248G>T)
c.2666G>T (p.Ser889Ile)
 dbSNP COSMIC
2g.47800833C>ACA346755859FBXO11,MSH6c.2553C>A (p.Ser851Arg)
c.2850C>A (p.Ser950Arg)
n.2934C>A
c.1606+1244C>A (n.1606+1244C>A)
c.2856C>A (p.Ser952Arg)
c.628-2587C>A (n.628-2587C>A)
c.2007C>A (p.Ser669Arg)
c.2460C>A (p.Ser820Arg)
c.169+7362G>T (n.169+7362G>T)
c.*124+7161G>T (n.*124+7161G>T)
c.*2197C>A (n.*2197C>A)
c.1944C>A (p.Ser648Arg)
c.2847C>A (p.Ser949Arg)
c.-247C>A (n.-247C>A)
c.2667C>A (p.Ser889Arg)
 dbSNP
2g.47800833C=CA2496049891FBXO11,MSH6c.2553C= (p.Ser851=)
c.2850C= (p.Ser950=)
n.2934C=
c.1606+1244C= (n.1606+1244C=)
c.2856C= (p.Ser952=)
c.628-2587C= (n.628-2587C=)
c.2007C= (p.Ser669=)
c.2460C= (p.Ser820=)
c.169+7362G= (n.169+7362G=)
c.*124+7161G= (n.*124+7161G=)
c.*2197C= (n.*2197C=)
c.1944C= (p.Ser648=)
c.2847C= (p.Ser949=)
c.-247C= (n.-247C=)
c.2667C= (p.Ser889=)
2g.47800833C>GCA346755860FBXO11,MSH6c.2553C>G (p.Ser851Arg)
c.2850C>G (p.Ser950Arg)
n.2934C>G
c.1606+1244C>G (n.1606+1244C>G)
c.2856C>G (p.Ser952Arg)
c.628-2587C>G (n.628-2587C>G)
c.2007C>G (p.Ser669Arg)
c.2460C>G (p.Ser820Arg)
c.169+7362G>C (n.169+7362G>C)
c.*124+7161G>C (n.*124+7161G>C)
c.*2197C>G (n.*2197C>G)
c.1944C>G (p.Ser648Arg)
c.2847C>G (p.Ser949Arg)
c.-247C>G (n.-247C>G)
c.2667C>G (p.Ser889Arg)
 ClinVar dbSNP
2g.47800833C>TCA069691FBXO11,MSH6c.2553C>T (p.Ser851=)
c.2850C>T (p.Ser950=)
n.2934C>T
c.1606+1244C>T (n.1606+1244C>T)
c.2856C>T (p.Ser952=)
c.628-2587C>T (n.628-2587C>T)
c.2007C>T (p.Ser669=)
c.2460C>T (p.Ser820=)
c.169+7362G>A (n.169+7362G>A)
c.*124+7161G>A (n.*124+7161G>A)
c.*2197C>T (n.*2197C>T)
c.1944C>T (p.Ser648=)
c.2847C>T (p.Ser949=)
c.-247C>T (n.-247C>T)
c.2667C>T (p.Ser889=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800833_47800841delinsCCTCCTGGACA2496049890FBXO11,MSH6c.2553_2561delinsCCTCCTGGA (p.Ser851=)
c.2850_2858delinsCCTCCTGGA (p.Ser950=)
n.2934_2942delinsCCTCCTGGA
c.1606+1244_1606+1252delinsCCTCCTGGA (n.1606+1244_1606+1252delinsCCTCCTGGA)
c.2856_2864delinsCCTCCTGGA (p.Ser952=)
c.628-2587_628-2579delinsCCTCCTGGA (n.628-2587_628-2579delinsCCTCCTGGA)
c.2007_2015delinsCCTCCTGGA (p.Ser669=)
c.2460_2468delinsCCTCCTGGA (p.Ser820=)
c.169+7354_169+7362delinsTCCAGGAGG (n.169+7354_169+7362delinsTCCAGGAGG)
c.*124+7153_*124+7161delinsTCCAGGAGG (n.*124+7153_*124+7161delinsTCCAGGAGG)
c.*2197_*2205delinsCCTCCTGGA (n.*2197_*2205delinsCCTCCTGGA)
c.1944_1952delinsCCTCCTGGA (p.Ser648=)
c.2847_2855delinsCCTCCTGGA (p.Ser949=)
c.-247_-239delinsCCTCCTGGA (n.-247_-239delinsCCTCCTGGA)
c.2667_2675delinsCCTCCTGGA (p.Ser889=)
2g.47800834C>ACA346755864FBXO11,MSH6c.2554C>A (p.Leu852Ile)
c.2851C>A (p.Leu951Ile)
n.2935C>A
c.1606+1245C>A (n.1606+1245C>A)
c.2857C>A (p.Leu953Ile)
c.628-2586C>A (n.628-2586C>A)
c.2008C>A (p.Leu670Ile)
c.2461C>A (p.Leu821Ile)
c.169+7361G>T (n.169+7361G>T)
c.*124+7160G>T (n.*124+7160G>T)
c.*2198C>A (n.*2198C>A)
c.1945C>A (p.Leu649Ile)
c.2848C>A (p.Leu950Ile)
c.-246C>A (n.-246C>A)
c.2668C>A (p.Leu890Ile)
 dbSNP
2g.47800834C=CA2496049892FBXO11,MSH6c.2554C= (p.Leu852=)
c.2851C= (p.Leu951=)
n.2935C=
c.1606+1245C= (n.1606+1245C=)
c.2857C= (p.Leu953=)
c.628-2586C= (n.628-2586C=)
c.2008C= (p.Leu670=)
c.2461C= (p.Leu821=)
c.169+7361G= (n.169+7361G=)
c.*124+7160G= (n.*124+7160G=)
c.*2198C= (n.*2198C=)
c.1945C= (p.Leu649=)
c.2848C= (p.Leu950=)
c.-246C= (n.-246C=)
c.2668C= (p.Leu890=)
2g.47800834C>GCA346755865FBXO11,MSH6c.2554C>G (p.Leu852Val)
c.2851C>G (p.Leu951Val)
n.2935C>G
c.1606+1245C>G (n.1606+1245C>G)
c.2857C>G (p.Leu953Val)
c.628-2586C>G (n.628-2586C>G)
c.2008C>G (p.Leu670Val)
c.2461C>G (p.Leu821Val)
c.169+7361G>C (n.169+7361G>C)
c.*124+7160G>C (n.*124+7160G>C)
c.*2198C>G (n.*2198C>G)
c.1945C>G (p.Leu649Val)
c.2848C>G (p.Leu950Val)
c.-246C>G (n.-246C>G)
c.2668C>G (p.Leu890Val)
 dbSNP
2g.47800834C>TCA069700FBXO11,MSH6c.2554C>T (p.Leu852Phe)
c.2851C>T (p.Leu951Phe)
n.2935C>T
c.1606+1245C>T (n.1606+1245C>T)
c.2857C>T (p.Leu953Phe)
c.628-2586C>T (n.628-2586C>T)
c.2008C>T (p.Leu670Phe)
c.2461C>T (p.Leu821Phe)
c.169+7361G>A (n.169+7361G>A)
c.*124+7160G>A (n.*124+7160G>A)
c.*2198C>T (n.*2198C>T)
c.1945C>T (p.Leu649Phe)
c.2848C>T (p.Leu950Phe)
c.-246C>T (n.-246C>T)
c.2668C>T (p.Leu890Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800834_47800841delCA010999FBXO11,MSH6c.2554_2561del (p.Leu852IlefsTer12)
c.2851_2858del (p.Leu951IlefsTer12)
n.2935_2942del
c.1606+1245_1606+1252del (n.1606+1245_1606+1252del)
c.2857_2864del (p.Leu953IlefsTer12)
c.628-2586_628-2579del (n.628-2586_628-2579del)
c.2008_2015del (p.Leu670IlefsTer12)
c.2461_2468del (p.Leu821IlefsTer12)
c.169+7354_169+7361del (n.169+7354_169+7361del)
c.*124+7153_*124+7160del (n.*124+7153_*124+7160del)
c.*2198_*2205del (n.*2198_*2205del)
c.1945_1952del (p.Leu649IlefsTer12)
c.2848_2855del (p.Leu950IlefsTer12)
c.-246_-239del (n.-246_-239del)
c.2668_2675del (p.Leu890IlefsTer12)
 ClinVar dbSNP gnomAD v4
2g.47800835T>ACA346755868FBXO11,MSH6c.2555T>A (p.Leu852His)
c.2852T>A (p.Leu951His)
n.2936T>A
c.1606+1246T>A (n.1606+1246T>A)
c.2858T>A (p.Leu953His)
c.628-2585T>A (n.628-2585T>A)
c.2009T>A (p.Leu670His)
c.2462T>A (p.Leu821His)
c.169+7360A>T (n.169+7360A>T)
c.*124+7159A>T (n.*124+7159A>T)
c.*2199T>A (n.*2199T>A)
c.1946T>A (p.Leu649His)
c.2849T>A (p.Leu950His)
c.-245T>A (n.-245T>A)
c.2669T>A (p.Leu890His)
 dbSNP
2g.47800835T>CCA346755871FBXO11,MSH6c.2555T>C (p.Leu852Pro)
c.2852T>C (p.Leu951Pro)
n.2936T>C
c.1606+1246T>C (n.1606+1246T>C)
c.2858T>C (p.Leu953Pro)
c.628-2585T>C (n.628-2585T>C)
c.2009T>C (p.Leu670Pro)
c.2462T>C (p.Leu821Pro)
c.169+7360A>G (n.169+7360A>G)
c.*124+7159A>G (n.*124+7159A>G)
c.*2199T>C (n.*2199T>C)
c.1946T>C (p.Leu649Pro)
c.2849T>C (p.Leu950Pro)
c.-245T>C (n.-245T>C)
c.2669T>C (p.Leu890Pro)
 dbSNP
2g.47800835T>GCA346755874FBXO11,MSH6c.2555T>G (p.Leu852Arg)
c.2852T>G (p.Leu951Arg)
n.2936T>G
c.1606+1246T>G (n.1606+1246T>G)
c.2858T>G (p.Leu953Arg)
c.628-2585T>G (n.628-2585T>G)
c.2009T>G (p.Leu670Arg)
c.2462T>G (p.Leu821Arg)
c.169+7360A>C (n.169+7360A>C)
c.*124+7159A>C (n.*124+7159A>C)
c.*2199T>G (n.*2199T>G)
c.1946T>G (p.Leu649Arg)
c.2849T>G (p.Leu950Arg)
c.-245T>G (n.-245T>G)
c.2669T>G (p.Leu890Arg)
2g.47800836C>ACA426121946FBXO11,MSH6c.2556C>A (p.Leu852=)
c.2853C>A (p.Leu951=)
n.2937C>A
c.1606+1247C>A (n.1606+1247C>A)
c.2859C>A (p.Leu953=)
c.628-2584C>A (n.628-2584C>A)
c.2010C>A (p.Leu670=)
c.2463C>A (p.Leu821=)
c.169+7359G>T (n.169+7359G>T)
c.*124+7158G>T (n.*124+7158G>T)
c.*2200C>A (n.*2200C>A)
c.1947C>A (p.Leu649=)
c.2850C>A (p.Leu950=)
c.-244C>A (n.-244C>A)
c.2670C>A (p.Leu890=)
 ClinVar dbSNP
2g.47800836C=CA2496049893FBXO11,MSH6c.2556C= (p.Leu852=)
c.2853C= (p.Leu951=)
n.2937C=
c.1606+1247C= (n.1606+1247C=)
c.2859C= (p.Leu953=)
c.628-2584C= (n.628-2584C=)
c.2010C= (p.Leu670=)
c.2463C= (p.Leu821=)
c.169+7359G= (n.169+7359G=)
c.*124+7158G= (n.*124+7158G=)
c.*2200C= (n.*2200C=)
c.1947C= (p.Leu649=)
c.2850C= (p.Leu950=)
c.-244C= (n.-244C=)
c.2670C= (p.Leu890=)
2g.47800836C>GCA10578121FBXO11,MSH6c.2556C>G (p.Leu852=)
c.2853C>G (p.Leu951=)
n.2937C>G
c.1606+1247C>G (n.1606+1247C>G)
c.2859C>G (p.Leu953=)
c.628-2584C>G (n.628-2584C>G)
c.2010C>G (p.Leu670=)
c.2463C>G (p.Leu821=)
c.169+7359G>C (n.169+7359G>C)
c.*124+7158G>C (n.*124+7158G>C)
c.*2200C>G (n.*2200C>G)
c.1947C>G (p.Leu649=)
c.2850C>G (p.Leu950=)
c.-244C>G (n.-244C>G)
c.2670C>G (p.Leu890=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800836C>TCA426121947FBXO11,MSH6c.2556C>T (p.Leu852=)
c.2853C>T (p.Leu951=)
n.2937C>T
c.1606+1247C>T (n.1606+1247C>T)
c.2859C>T (p.Leu953=)
c.628-2584C>T (n.628-2584C>T)
c.2010C>T (p.Leu670=)
c.2463C>T (p.Leu821=)
c.169+7359G>A (n.169+7359G>A)
c.*124+7158G>A (n.*124+7158G>A)
c.*2200C>T (n.*2200C>T)
c.1947C>T (p.Leu649=)
c.2850C>T (p.Leu950=)
c.-244C>T (n.-244C>T)
c.2670C>T (p.Leu890=)
 ClinVar dbSNP
2g.47800837C>ACA346755881FBXO11,MSH6c.2557C>A (p.Leu853Met)
c.2854C>A (p.Leu952Met)
n.2938C>A
c.1606+1248C>A (n.1606+1248C>A)
c.2860C>A (p.Leu954Met)
c.628-2583C>A (n.628-2583C>A)
c.2011C>A (p.Leu671Met)
c.2464C>A (p.Leu822Met)
c.169+7358G>T (n.169+7358G>T)
c.*124+7157G>T (n.*124+7157G>T)
c.*2201C>A (n.*2201C>A)
c.1948C>A (p.Leu650Met)
c.2851C>A (p.Leu951Met)
c.-243C>A (n.-243C>A)
c.2671C>A (p.Leu891Met)
 dbSNP
2g.47800837C=CA2496049894FBXO11,MSH6c.2557C= (p.Leu853=)
c.2854C= (p.Leu952=)
n.2938C=
c.1606+1248C= (n.1606+1248C=)
c.2860C= (p.Leu954=)
c.628-2583C= (n.628-2583C=)
c.2011C= (p.Leu671=)
c.2464C= (p.Leu822=)
c.169+7358G= (n.169+7358G=)
c.*124+7157G= (n.*124+7157G=)
c.*2201C= (n.*2201C=)
c.1948C= (p.Leu650=)
c.2851C= (p.Leu951=)
c.-243C= (n.-243C=)
c.2671C= (p.Leu891=)
2g.47800837C>GCA346755879FBXO11,MSH6c.2557C>G (p.Leu853Val)
c.2854C>G (p.Leu952Val)
n.2938C>G
c.1606+1248C>G (n.1606+1248C>G)
c.2860C>G (p.Leu954Val)
c.628-2583C>G (n.628-2583C>G)
c.2011C>G (p.Leu671Val)
c.2464C>G (p.Leu822Val)
c.169+7358G>C (n.169+7358G>C)
c.*124+7157G>C (n.*124+7157G>C)
c.*2201C>G (n.*2201C>G)
c.1948C>G (p.Leu650Val)
c.2851C>G (p.Leu951Val)
c.-243C>G (n.-243C>G)
c.2671C>G (p.Leu891Val)
 ClinVar dbSNP gnomAD v4
2g.47800837C>TCA426121949FBXO11,MSH6c.2557C>T (p.Leu853=)
c.2854C>T (p.Leu952=)
n.2938C>T
c.1606+1248C>T (n.1606+1248C>T)
c.2860C>T (p.Leu954=)
c.628-2583C>T (n.628-2583C>T)
c.2011C>T (p.Leu671=)
c.2464C>T (p.Leu822=)
c.169+7358G>A (n.169+7358G>A)
c.*124+7157G>A (n.*124+7157G>A)
c.*2201C>T (n.*2201C>T)
c.1948C>T (p.Leu650=)
c.2851C>T (p.Leu951=)
c.-243C>T (n.-243C>T)
c.2671C>T (p.Leu891=)
 ClinVar dbSNP gnomAD v2
2g.47800838T>ACA346755885FBXO11,MSH6c.2558T>A (p.Leu853Gln)
c.2855T>A (p.Leu952Gln)
n.2939T>A
c.1606+1249T>A (n.1606+1249T>A)
c.2861T>A (p.Leu954Gln)
c.628-2582T>A (n.628-2582T>A)
c.2012T>A (p.Leu671Gln)
c.2465T>A (p.Leu822Gln)
c.169+7357A>T (n.169+7357A>T)
c.*124+7156A>T (n.*124+7156A>T)
c.*2202T>A (n.*2202T>A)
c.1949T>A (p.Leu650Gln)
c.2852T>A (p.Leu951Gln)
c.-242T>A (n.-242T>A)
c.2672T>A (p.Leu891Gln)
2g.47800838T>CCA011015FBXO11,MSH6c.2558T>C (p.Leu853Pro)
c.2855T>C (p.Leu952Pro)
n.2939T>C
c.1606+1249T>C (n.1606+1249T>C)
c.2861T>C (p.Leu954Pro)
c.628-2582T>C (n.628-2582T>C)
c.2012T>C (p.Leu671Pro)
c.2465T>C (p.Leu822Pro)
c.169+7357A>G (n.169+7357A>G)
c.*124+7156A>G (n.*124+7156A>G)
c.*2202T>C (n.*2202T>C)
c.1949T>C (p.Leu650Pro)
c.2852T>C (p.Leu951Pro)
c.-242T>C (n.-242T>C)
c.2672T>C (p.Leu891Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800838T>GCA346755889FBXO11,MSH6c.2558T>G (p.Leu853Arg)
c.2855T>G (p.Leu952Arg)
n.2939T>G
c.1606+1249T>G (n.1606+1249T>G)
c.2861T>G (p.Leu954Arg)
c.628-2582T>G (n.628-2582T>G)
c.2012T>G (p.Leu671Arg)
c.2465T>G (p.Leu822Arg)
c.169+7357A>C (n.169+7357A>C)
c.*124+7156A>C (n.*124+7156A>C)
c.*2202T>G (n.*2202T>G)
c.1949T>G (p.Leu650Arg)
c.2852T>G (p.Leu951Arg)
c.-242T>G (n.-242T>G)
c.2672T>G (p.Leu891Arg)
2g.47800838T=CA2496049895FBXO11,MSH6c.2558T= (p.Leu853=)
c.2855T= (p.Leu952=)
n.2939T=
c.1606+1249T= (n.1606+1249T=)
c.2861T= (p.Leu954=)
c.628-2582T= (n.628-2582T=)
c.2012T= (p.Leu671=)
c.2465T= (p.Leu822=)
c.169+7357A= (n.169+7357A=)
c.*124+7156A= (n.*124+7156A=)
c.*2202T= (n.*2202T=)
c.1949T= (p.Leu650=)
c.2852T= (p.Leu951=)
c.-242T= (n.-242T=)
c.2672T= (p.Leu891=)
2g.47800839G>ACA426121952FBXO11,MSH6c.2559G>A (p.Leu853=)
c.2856G>A (p.Leu952=)
n.2940G>A
c.1606+1250G>A (n.1606+1250G>A)
c.2862G>A (p.Leu954=)
c.628-2581G>A (n.628-2581G>A)
c.2013G>A (p.Leu671=)
c.2466G>A (p.Leu822=)
c.169+7356C>T (n.169+7356C>T)
c.*124+7155C>T (n.*124+7155C>T)
c.*2203G>A (n.*2203G>A)
c.1950G>A (p.Leu650=)
c.2853G>A (p.Leu951=)
c.-241G>A (n.-241G>A)
c.2673G>A (p.Leu891=)
 dbSNP
2g.47800839G>CCA426121953FBXO11,MSH6c.2559G>C (p.Leu853=)
c.2856G>C (p.Leu952=)
n.2940G>C
c.1606+1250G>C (n.1606+1250G>C)
c.2862G>C (p.Leu954=)
c.628-2581G>C (n.628-2581G>C)
c.2013G>C (p.Leu671=)
c.2466G>C (p.Leu822=)
c.169+7356C>G (n.169+7356C>G)
c.*124+7155C>G (n.*124+7155C>G)
c.*2203G>C (n.*2203G>C)
c.1950G>C (p.Leu650=)
c.2853G>C (p.Leu951=)
c.-241G>C (n.-241G>C)
c.2673G>C (p.Leu891=)
 dbSNP
2g.47800839G>TCA426121954FBXO11,MSH6c.2559G>T (p.Leu853=)
c.2856G>T (p.Leu952=)
n.2940G>T
c.1606+1250G>T (n.1606+1250G>T)
c.2862G>T (p.Leu954=)
c.628-2581G>T (n.628-2581G>T)
c.2013G>T (p.Leu671=)
c.2466G>T (p.Leu822=)
c.169+7356C>A (n.169+7356C>A)
c.*124+7155C>A (n.*124+7155C>A)
c.*2203G>T (n.*2203G>T)
c.1950G>T (p.Leu650=)
c.2853G>T (p.Leu951=)
c.-241G>T (n.-241G>T)
c.2673G>T (p.Leu891=)
 dbSNP
2g.47800840delCA2580068089FBXO11,MSH6c.2560del (p.Glu854AsnfsTer3)
c.2857del (p.Glu953AsnfsTer3)
n.2941del
c.1606+1251del (n.1606+1251del)
c.2863del (p.Glu955AsnfsTer3)
c.628-2580del (n.628-2580del)
c.2014del (p.Glu672AsnfsTer3)
c.2467del (p.Glu823AsnfsTer3)
c.169+7356del (n.169+7356del)
c.*124+7155del (n.*124+7155del)
c.*2204del (n.*2204del)
c.1951del (p.Glu651AsnfsTer3)
c.2854del (p.Glu952AsnfsTer3)
c.-240del (n.-240del)
c.2674del (p.Glu892AsnfsTer3)
 ClinVar
2g.47800840G>ACA069715FBXO11,MSH6c.2560G>A (p.Glu854Lys)
c.2857G>A (p.Glu953Lys)
n.2941G>A
c.1606+1251G>A (n.1606+1251G>A)
c.2863G>A (p.Glu955Lys)
c.628-2580G>A (n.628-2580G>A)
c.2014G>A (p.Glu672Lys)
c.2467G>A (p.Glu823Lys)
c.169+7355C>T (n.169+7355C>T)
c.*124+7154C>T (n.*124+7154C>T)
c.*2204G>A (n.*2204G>A)
c.1951G>A (p.Glu651Lys)
c.2854G>A (p.Glu952Lys)
c.-240G>A (n.-240G>A)
c.2674G>A (p.Glu892Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800840G>CCA16610927FBXO11,MSH6c.2560G>C (p.Glu854Gln)
c.2857G>C (p.Glu953Gln)
n.2941G>C
c.1606+1251G>C (n.1606+1251G>C)
c.2863G>C (p.Glu955Gln)
c.628-2580G>C (n.628-2580G>C)
c.2014G>C (p.Glu672Gln)
c.2467G>C (p.Glu823Gln)
c.169+7355C>G (n.169+7355C>G)
c.*124+7154C>G (n.*124+7154C>G)
c.*2204G>C (n.*2204G>C)
c.1951G>C (p.Glu651Gln)
c.2854G>C (p.Glu952Gln)
c.-240G>C (n.-240G>C)
c.2674G>C (p.Glu892Gln)
 ClinVar dbSNP
2g.47800840G=CA2496049896FBXO11,MSH6c.2560G= (p.Glu854=)
c.2857G= (p.Glu953=)
n.2941G=
c.1606+1251G= (n.1606+1251G=)
c.2863G= (p.Glu955=)
c.628-2580G= (n.628-2580G=)
c.2014G= (p.Glu672=)
c.2467G= (p.Glu823=)
c.169+7355C= (n.169+7355C=)
c.*124+7154C= (n.*124+7154C=)
c.*2204G= (n.*2204G=)
c.1951G= (p.Glu651=)
c.2854G= (p.Glu952=)
c.-240G= (n.-240G=)
c.2674G= (p.Glu892=)
2g.47800840G>TCA346755898FBXO11,MSH6c.2560G>T (p.Glu854Ter)
c.2857G>T (p.Glu953Ter)
n.2941G>T
c.1606+1251G>T (n.1606+1251G>T)
c.2863G>T (p.Glu955Ter)
c.628-2580G>T (n.628-2580G>T)
c.2014G>T (p.Glu672Ter)
c.2467G>T (p.Glu823Ter)
c.169+7355C>A (n.169+7355C>A)
c.*124+7154C>A (n.*124+7154C>A)
c.*2204G>T (n.*2204G>T)
c.1951G>T (p.Glu651Ter)
c.2854G>T (p.Glu952Ter)
c.-240G>T (n.-240G>T)
c.2674G>T (p.Glu892Ter)
 ClinVar dbSNP
2g.47800841A=CA2496049897FBXO11,MSH6c.2561A= (p.Glu854=)
c.2858A= (p.Glu953=)
n.2942A=
c.1606+1252A= (n.1606+1252A=)
c.2864A= (p.Glu955=)
c.628-2579A= (n.628-2579A=)
c.2015A= (p.Glu672=)
c.2468A= (p.Glu823=)
c.169+7354T= (n.169+7354T=)
c.*124+7153T= (n.*124+7153T=)
c.*2205A= (n.*2205A=)
c.1952A= (p.Glu651=)
c.2855A= (p.Glu952=)
c.-239A= (n.-239A=)
c.2675A= (p.Glu892=)
2g.47800841A>CCA346755909FBXO11,MSH6c.2561A>C (p.Glu854Ala)
c.2858A>C (p.Glu953Ala)
n.2942A>C
c.1606+1252A>C (n.1606+1252A>C)
c.2864A>C (p.Glu955Ala)
c.628-2579A>C (n.628-2579A>C)
c.2015A>C (p.Glu672Ala)
c.2468A>C (p.Glu823Ala)
c.169+7354T>G (n.169+7354T>G)
c.*124+7153T>G (n.*124+7153T>G)
c.*2205A>C (n.*2205A>C)
c.1952A>C (p.Glu651Ala)
c.2855A>C (p.Glu952Ala)
c.-239A>C (n.-239A>C)
c.2675A>C (p.Glu892Ala)
2g.47800841A>GCA10578122FBXO11,MSH6c.2561A>G (p.Glu854Gly)
c.2858A>G (p.Glu953Gly)
n.2942A>G
c.1606+1252A>G (n.1606+1252A>G)
c.2864A>G (p.Glu955Gly)
c.628-2579A>G (n.628-2579A>G)
c.2015A>G (p.Glu672Gly)
c.2468A>G (p.Glu823Gly)
c.169+7354T>C (n.169+7354T>C)
c.*124+7153T>C (n.*124+7153T>C)
c.*2205A>G (n.*2205A>G)
c.1952A>G (p.Glu651Gly)
c.2855A>G (p.Glu952Gly)
c.-239A>G (n.-239A>G)
c.2675A>G (p.Glu892Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800841A>TCA346755902FBXO11,MSH6c.2561A>T (p.Glu854Val)
c.2858A>T (p.Glu953Val)
n.2942A>T
c.1606+1252A>T (n.1606+1252A>T)
c.2864A>T (p.Glu955Val)
c.628-2579A>T (n.628-2579A>T)
c.2015A>T (p.Glu672Val)
c.2468A>T (p.Glu823Val)
c.169+7354T>A (n.169+7354T>A)
c.*124+7153T>A (n.*124+7153T>A)
c.*2205A>T (n.*2205A>T)
c.1952A>T (p.Glu651Val)
c.2855A>T (p.Glu952Val)
c.-239A>T (n.-239A>T)
c.2675A>T (p.Glu892Val)
 dbSNP gnomAD v4
2g.47800842A=CA2496049898FBXO11,MSH6c.2562A= (p.Glu854=)
c.2859A= (p.Glu953=)
n.2943A=
c.1606+1253A= (n.1606+1253A=)
c.2865A= (p.Glu955=)
c.628-2578A= (n.628-2578A=)
c.2016A= (p.Glu672=)
c.2469A= (p.Glu823=)
c.169+7353T= (n.169+7353T=)
c.*124+7152T= (n.*124+7152T=)
c.*2206A= (n.*2206A=)
c.1953A= (p.Glu651=)
c.2856A= (p.Glu952=)
c.-238A= (n.-238A=)
c.2676A= (p.Glu892=)
2g.47800842A>CCA346755911FBXO11,MSH6c.2562A>C (p.Glu854Asp)
c.2859A>C (p.Glu953Asp)
n.2943A>C
c.1606+1253A>C (n.1606+1253A>C)
c.2865A>C (p.Glu955Asp)
c.628-2578A>C (n.628-2578A>C)
c.2016A>C (p.Glu672Asp)
c.2469A>C (p.Glu823Asp)
c.169+7353T>G (n.169+7353T>G)
c.*124+7152T>G (n.*124+7152T>G)
c.*2206A>C (n.*2206A>C)
c.1953A>C (p.Glu651Asp)
c.2856A>C (p.Glu952Asp)
c.-238A>C (n.-238A>C)
c.2676A>C (p.Glu892Asp)
 ClinVar dbSNP
2g.47800842A>GCA426121957FBXO11,MSH6c.2562A>G (p.Glu854=)
c.2859A>G (p.Glu953=)
n.2943A>G
c.1606+1253A>G (n.1606+1253A>G)
c.2865A>G (p.Glu955=)
c.628-2578A>G (n.628-2578A>G)
c.2016A>G (p.Glu672=)
c.2469A>G (p.Glu823=)
c.169+7353T>C (n.169+7353T>C)
c.*124+7152T>C (n.*124+7152T>C)
c.*2206A>G (n.*2206A>G)
c.1953A>G (p.Glu651=)
c.2856A>G (p.Glu952=)
c.-238A>G (n.-238A>G)
c.2676A>G (p.Glu892=)
 ClinVar dbSNP
2g.47800842A>TCA346755915FBXO11,MSH6c.2562A>T (p.Glu854Asp)
c.2859A>T (p.Glu953Asp)
n.2943A>T
c.1606+1253A>T (n.1606+1253A>T)
c.2865A>T (p.Glu955Asp)
c.628-2578A>T (n.628-2578A>T)
c.2016A>T (p.Glu672Asp)
c.2469A>T (p.Glu823Asp)
c.169+7353T>A (n.169+7353T>A)
c.*124+7152T>A (n.*124+7152T>A)
c.*2206A>T (n.*2206A>T)
c.1953A>T (p.Glu651Asp)
c.2856A>T (p.Glu952Asp)
c.-238A>T (n.-238A>T)
c.2676A>T (p.Glu892Asp)
 dbSNP
2g.47800843T>ACA346755918FBXO11,MSH6c.2563T>A (p.Tyr855Asn)
c.2860T>A (p.Tyr954Asn)
n.2944T>A
c.1606+1254T>A (n.1606+1254T>A)
c.2866T>A (p.Tyr956Asn)
c.628-2577T>A (n.628-2577T>A)
c.2017T>A (p.Tyr673Asn)
c.2470T>A (p.Tyr824Asn)
c.169+7352A>T (n.169+7352A>T)
c.*124+7151A>T (n.*124+7151A>T)
c.*2207T>A (n.*2207T>A)
c.1954T>A (p.Tyr652Asn)
c.2857T>A (p.Tyr953Asn)
c.-237T>A (n.-237T>A)
c.2677T>A (p.Tyr893Asn)
 dbSNP
2g.47800843T>CCA346755921FBXO11,MSH6c.2563T>C (p.Tyr855His)
c.2860T>C (p.Tyr954His)
n.2944T>C
c.1606+1254T>C (n.1606+1254T>C)
c.2866T>C (p.Tyr956His)
c.628-2577T>C (n.628-2577T>C)
c.2017T>C (p.Tyr673His)
c.2470T>C (p.Tyr824His)
c.169+7352A>G (n.169+7352A>G)
c.*124+7151A>G (n.*124+7151A>G)
c.*2207T>C (n.*2207T>C)
c.1954T>C (p.Tyr652His)
c.2857T>C (p.Tyr953His)
c.-237T>C (n.-237T>C)
c.2677T>C (p.Tyr893His)
 ClinVar dbSNP
2g.47800843T>GCA346755924FBXO11,MSH6c.2563T>G (p.Tyr855Asp)
c.2860T>G (p.Tyr954Asp)
n.2944T>G
c.1606+1254T>G (n.1606+1254T>G)
c.2866T>G (p.Tyr956Asp)
c.628-2577T>G (n.628-2577T>G)
c.2017T>G (p.Tyr673Asp)
c.2470T>G (p.Tyr824Asp)
c.169+7352A>C (n.169+7352A>C)
c.*124+7151A>C (n.*124+7151A>C)
c.*2207T>G (n.*2207T>G)
c.1954T>G (p.Tyr652Asp)
c.2857T>G (p.Tyr953Asp)
c.-237T>G (n.-237T>G)
c.2677T>G (p.Tyr893Asp)
 dbSNP
2g.47800843T=CA2496049899FBXO11,MSH6c.2563T= (p.Tyr855=)
c.2860T= (p.Tyr954=)
n.2944T=
c.1606+1254T= (n.1606+1254T=)
c.2866T= (p.Tyr956=)
c.628-2577T= (n.628-2577T=)
c.2017T= (p.Tyr673=)
c.2470T= (p.Tyr824=)
c.169+7352A= (n.169+7352A=)
c.*124+7151A= (n.*124+7151A=)
c.*2207T= (n.*2207T=)
c.1954T= (p.Tyr652=)
c.2857T= (p.Tyr953=)
c.-237T= (n.-237T=)
c.2677T= (p.Tyr893=)
2g.47800844A>CCA346755927FBXO11,MSH6c.2564A>C (p.Tyr855Ser)
c.2861A>C (p.Tyr954Ser)
n.2945A>C
c.1606+1255A>C (n.1606+1255A>C)
c.2867A>C (p.Tyr956Ser)
c.628-2576A>C (n.628-2576A>C)
c.2018A>C (p.Tyr673Ser)
c.2471A>C (p.Tyr824Ser)
c.169+7351T>G (n.169+7351T>G)
c.*124+7150T>G (n.*124+7150T>G)
c.*2208A>C (n.*2208A>C)
c.1955A>C (p.Tyr652Ser)
c.2858A>C (p.Tyr953Ser)
c.-236A>C (n.-236A>C)
c.2678A>C (p.Tyr893Ser)
 dbSNP
2g.47800844A>GCA346755932FBXO11,MSH6c.2564A>G (p.Tyr855Cys)
c.2861A>G (p.Tyr954Cys)
n.2945A>G
c.1606+1255A>G (n.1606+1255A>G)
c.2867A>G (p.Tyr956Cys)
c.628-2576A>G (n.628-2576A>G)
c.2018A>G (p.Tyr673Cys)
c.2471A>G (p.Tyr824Cys)
c.169+7351T>C (n.169+7351T>C)
c.*124+7150T>C (n.*124+7150T>C)
c.*2208A>G (n.*2208A>G)
c.1955A>G (p.Tyr652Cys)
c.2858A>G (p.Tyr953Cys)
c.-236A>G (n.-236A>G)
c.2678A>G (p.Tyr893Cys)
 dbSNP
2g.47800844A>TCA346755930FBXO11,MSH6c.2564A>T (p.Tyr855Phe)
c.2861A>T (p.Tyr954Phe)
n.2945A>T
c.1606+1255A>T (n.1606+1255A>T)
c.2867A>T (p.Tyr956Phe)
c.628-2576A>T (n.628-2576A>T)
c.2018A>T (p.Tyr673Phe)
c.2471A>T (p.Tyr824Phe)
c.169+7351T>A (n.169+7351T>A)
c.*124+7150T>A (n.*124+7150T>A)
c.*2208A>T (n.*2208A>T)
c.1955A>T (p.Tyr652Phe)
c.2858A>T (p.Tyr953Phe)
c.-236A>T (n.-236A>T)
c.2678A>T (p.Tyr893Phe)
 dbSNP
2g.47800844_47800845delinsACCA2496049900FBXO11,MSH6c.2564_2565delinsAC (p.Tyr855=)
c.2861_2862delinsAC (p.Tyr954=)
n.2945_2946delinsAC
c.1606+1255_1606+1256delinsAC (n.1606+1255_1606+1256delinsAC)
c.2867_2868delinsAC (p.Tyr956=)
c.628-2576_628-2575delinsAC (n.628-2576_628-2575delinsAC)
c.2018_2019delinsAC (p.Tyr673=)
c.2471_2472delinsAC (p.Tyr824=)
c.169+7350_169+7351delinsGT (n.169+7350_169+7351delinsGT)
c.*124+7149_*124+7150delinsGT (n.*124+7149_*124+7150delinsGT)
c.*2208_*2209delinsAC (n.*2208_*2209delinsAC)
c.1955_1956delinsAC (p.Tyr652=)
c.2858_2859delinsAC (p.Tyr953=)
c.-236_-235delinsAC (n.-236_-235delinsAC)
c.2678_2679delinsAC (p.Tyr893=)
2g.47800845C>ACA346755936FBXO11,MSH6c.2565C>A (p.Tyr855Ter)
c.2862C>A (p.Tyr954Ter)
n.2946C>A
c.1606+1256C>A (n.1606+1256C>A)
c.2868C>A (p.Tyr956Ter)
c.628-2575C>A (n.628-2575C>A)
c.2019C>A (p.Tyr673Ter)
c.2472C>A (p.Tyr824Ter)
c.169+7350G>T (n.169+7350G>T)
c.*124+7149G>T (n.*124+7149G>T)
c.*2209C>A (n.*2209C>A)
c.1956C>A (p.Tyr652Ter)
c.2859C>A (p.Tyr953Ter)
c.-235C>A (n.-235C>A)
c.2679C>A (p.Tyr893Ter)
 dbSNP
2g.47800845C=CA2496049901FBXO11,MSH6c.2565C= (p.Tyr855=)
c.2862C= (p.Tyr954=)
n.2946C=
c.1606+1256C= (n.1606+1256C=)
c.2868C= (p.Tyr956=)
c.628-2575C= (n.628-2575C=)
c.2019C= (p.Tyr673=)
c.2472C= (p.Tyr824=)
c.169+7350G= (n.169+7350G=)
c.*124+7149G= (n.*124+7149G=)
c.*2209C= (n.*2209C=)
c.1956C= (p.Tyr652=)
c.2859C= (p.Tyr953=)
c.-235C= (n.-235C=)
c.2679C= (p.Tyr893=)
2g.47800845C>GCA16617684FBXO11,MSH6c.2565C>G (p.Tyr855Ter)
c.2862C>G (p.Tyr954Ter)
n.2946C>G
c.1606+1256C>G (n.1606+1256C>G)
c.2868C>G (p.Tyr956Ter)
c.628-2575C>G (n.628-2575C>G)
c.2019C>G (p.Tyr673Ter)
c.2472C>G (p.Tyr824Ter)
c.169+7350G>C (n.169+7350G>C)
c.*124+7149G>C (n.*124+7149G>C)
c.*2209C>G (n.*2209C>G)
c.1956C>G (p.Tyr652Ter)
c.2859C>G (p.Tyr953Ter)
c.-235C>G (n.-235C>G)
c.2679C>G (p.Tyr893Ter)
 ClinVar dbSNP
2g.47800845C>TCA426121961FBXO11,MSH6c.2565C>T (p.Tyr855=)
c.2862C>T (p.Tyr954=)
n.2946C>T
c.1606+1256C>T (n.1606+1256C>T)
c.2868C>T (p.Tyr956=)
c.628-2575C>T (n.628-2575C>T)
c.2019C>T (p.Tyr673=)
c.2472C>T (p.Tyr824=)
c.169+7350G>A (n.169+7350G>A)
c.*124+7149G>A (n.*124+7149G>A)
c.*2209C>T (n.*2209C>T)
c.1956C>T (p.Tyr652=)
c.2859C>T (p.Tyr953=)
c.-235C>T (n.-235C>T)
c.2679C>T (p.Tyr893=)
 dbSNP
2g.47800846delCA645369257FBXO11,MSH6c.2566del (p.Leu856Ter)
c.2863del (p.Leu955Ter)
n.2947del
c.1606+1257del (n.1606+1257del)
c.2869del (p.Leu957Ter)
c.628-2574del (n.628-2574del)
c.2020del (p.Leu674Ter)
c.2473del (p.Leu825Ter)
c.169+7350del (n.169+7350del)
c.*124+7149del (n.*124+7149del)
c.*2210del (n.*2210del)
c.1957del (p.Leu653Ter)
c.2860del (p.Leu954Ter)
c.-234del (n.-234del)
c.2680del (p.Leu894Ter)
 ClinVar dbSNP
2g.47800846C>ACA346755940FBXO11,MSH6c.2566C>A (p.Leu856Ile)
c.2863C>A (p.Leu955Ile)
n.2947C>A
c.1606+1257C>A (n.1606+1257C>A)
c.2869C>A (p.Leu957Ile)
c.628-2574C>A (n.628-2574C>A)
c.2020C>A (p.Leu674Ile)
c.2473C>A (p.Leu825Ile)
c.169+7349G>T (n.169+7349G>T)
c.*124+7148G>T (n.*124+7148G>T)
c.*2210C>A (n.*2210C>A)
c.1957C>A (p.Leu653Ile)
c.2860C>A (p.Leu954Ile)
c.-234C>A (n.-234C>A)
c.2680C>A (p.Leu894Ile)
 dbSNP
2g.47800846C=CA2496049902FBXO11,MSH6c.2566C= (p.Leu856=)
c.2863C= (p.Leu955=)
n.2947C=
c.1606+1257C= (n.1606+1257C=)
c.2869C= (p.Leu957=)
c.628-2574C= (n.628-2574C=)
c.2020C= (p.Leu674=)
c.2473C= (p.Leu825=)
c.169+7349G= (n.169+7349G=)
c.*124+7148G= (n.*124+7148G=)
c.*2210C= (n.*2210C=)
c.1957C= (p.Leu653=)
c.2860C= (p.Leu954=)
c.-234C= (n.-234C=)
c.2680C= (p.Leu894=)
2g.47800846C>GCA346755943FBXO11,MSH6c.2566C>G (p.Leu856Val)
c.2863C>G (p.Leu955Val)
n.2947C>G
c.1606+1257C>G (n.1606+1257C>G)
c.2869C>G (p.Leu957Val)
c.628-2574C>G (n.628-2574C>G)
c.2020C>G (p.Leu674Val)
c.2473C>G (p.Leu825Val)
c.169+7349G>C (n.169+7349G>C)
c.*124+7148G>C (n.*124+7148G>C)
c.*2210C>G (n.*2210C>G)
c.1957C>G (p.Leu653Val)
c.2860C>G (p.Leu954Val)
c.-234C>G (n.-234C>G)
c.2680C>G (p.Leu894Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800846C>TCA426121962FBXO11,MSH6c.2566C>T (p.Leu856=)
c.2863C>T (p.Leu955=)
n.2947C>T
c.1606+1257C>T (n.1606+1257C>T)
c.2869C>T (p.Leu957=)
c.628-2574C>T (n.628-2574C>T)
c.2020C>T (p.Leu674=)
c.2473C>T (p.Leu825=)
c.169+7349G>A (n.169+7349G>A)
c.*124+7148G>A (n.*124+7148G>A)
c.*2210C>T (n.*2210C>T)
c.1957C>T (p.Leu653=)
c.2860C>T (p.Leu954=)
c.-234C>T (n.-234C>T)
c.2680C>T (p.Leu894=)
 ClinVar dbSNP
2g.47800847T>ACA346755946FBXO11,MSH6c.2567T>A (p.Leu856Gln)
c.2864T>A (p.Leu955Gln)
n.2948T>A
c.1606+1258T>A (n.1606+1258T>A)
c.2870T>A (p.Leu957Gln)
c.628-2573T>A (n.628-2573T>A)
c.2021T>A (p.Leu674Gln)
c.2474T>A (p.Leu825Gln)
c.169+7348A>T (n.169+7348A>T)
c.*124+7147A>T (n.*124+7147A>T)
c.*2211T>A (n.*2211T>A)
c.1958T>A (p.Leu653Gln)
c.2861T>A (p.Leu954Gln)
c.-233T>A (n.-233T>A)
c.2681T>A (p.Leu894Gln)
 dbSNP gnomAD v4
2g.47800847T>CCA346755948FBXO11,MSH6c.2567T>C (p.Leu856Pro)
c.2864T>C (p.Leu955Pro)
n.2948T>C
c.1606+1258T>C (n.1606+1258T>C)
c.2870T>C (p.Leu957Pro)
c.628-2573T>C (n.628-2573T>C)
c.2021T>C (p.Leu674Pro)
c.2474T>C (p.Leu825Pro)
c.169+7348A>G (n.169+7348A>G)
c.*124+7147A>G (n.*124+7147A>G)
c.*2211T>C (n.*2211T>C)
c.1958T>C (p.Leu653Pro)
c.2861T>C (p.Leu954Pro)
c.-233T>C (n.-233T>C)
c.2681T>C (p.Leu894Pro)
 ClinVar dbSNP
2g.47800847T>GCA346755953FBXO11,MSH6c.2567T>G (p.Leu856Arg)
c.2864T>G (p.Leu955Arg)
n.2948T>G
c.1606+1258T>G (n.1606+1258T>G)
c.2870T>G (p.Leu957Arg)
c.628-2573T>G (n.628-2573T>G)
c.2021T>G (p.Leu674Arg)
c.2474T>G (p.Leu825Arg)
c.169+7348A>C (n.169+7348A>C)
c.*124+7147A>C (n.*124+7147A>C)
c.*2211T>G (n.*2211T>G)
c.1958T>G (p.Leu653Arg)
c.2861T>G (p.Leu954Arg)
c.-233T>G (n.-233T>G)
c.2681T>G (p.Leu894Arg)
2g.47800848A=CA2496049903FBXO11,MSH6c.2568A= (p.Leu856=)
c.2865A= (p.Leu955=)
n.2949A=
c.1606+1259A= (n.1606+1259A=)
c.2871A= (p.Leu957=)
c.628-2572A= (n.628-2572A=)
c.2022A= (p.Leu674=)
c.2475A= (p.Leu825=)
c.169+7347T= (n.169+7347T=)
c.*124+7146T= (n.*124+7146T=)
c.*2212A= (n.*2212A=)
c.1959A= (p.Leu653=)
c.2862A= (p.Leu954=)
c.-232A= (n.-232A=)
c.2682A= (p.Leu894=)
2g.47800848A>CCA426121964FBXO11,MSH6c.2568A>C (p.Leu856=)
c.2865A>C (p.Leu955=)
n.2949A>C
c.1606+1259A>C (n.1606+1259A>C)
c.2871A>C (p.Leu957=)
c.628-2572A>C (n.628-2572A>C)
c.2022A>C (p.Leu674=)
c.2475A>C (p.Leu825=)
c.169+7347T>G (n.169+7347T>G)
c.*124+7146T>G (n.*124+7146T>G)
c.*2212A>C (n.*2212A>C)
c.1959A>C (p.Leu653=)
c.2862A>C (p.Leu954=)
c.-232A>C (n.-232A>C)
c.2682A>C (p.Leu894=)
2g.47800848A>GCA069719FBXO11,MSH6c.2568A>G (p.Leu856=)
c.2865A>G (p.Leu955=)
n.2949A>G
c.1606+1259A>G (n.1606+1259A>G)
c.2871A>G (p.Leu957=)
c.628-2572A>G (n.628-2572A>G)
c.2022A>G (p.Leu674=)
c.2475A>G (p.Leu825=)
c.169+7347T>C (n.169+7347T>C)
c.*124+7146T>C (n.*124+7146T>C)
c.*2212A>G (n.*2212A>G)
c.1959A>G (p.Leu653=)
c.2862A>G (p.Leu954=)
c.-232A>G (n.-232A>G)
c.2682A>G (p.Leu894=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800848A>TCA426121966FBXO11,MSH6c.2568A>T (p.Leu856=)
c.2865A>T (p.Leu955=)
n.2949A>T
c.1606+1259A>T (n.1606+1259A>T)
c.2871A>T (p.Leu957=)
c.628-2572A>T (n.628-2572A>T)
c.2022A>T (p.Leu674=)
c.2475A>T (p.Leu825=)
c.169+7347T>A (n.169+7347T>A)
c.*124+7146T>A (n.*124+7146T>A)
c.*2212A>T (n.*2212A>T)
c.1959A>T (p.Leu653=)
c.2862A>T (p.Leu954=)
c.-232A>T (n.-232A>T)
c.2682A>T (p.Leu894=)
 dbSNP
2g.47800849_47800852delCA2697548134FBXO11,MSH6c.2569_2572del (p.Glu857AsnfsTer11)
c.2866_2869del (p.Glu956AsnfsTer11)
n.2950_2953del
c.1606+1260_1606+1263del (n.1606+1260_1606+1263del)
c.2872_2875del (p.Glu958AsnfsTer11)
c.628-2571_628-2568del (n.628-2571_628-2568del)
c.2023_2026del (p.Glu675AsnfsTer11)
c.2476_2479del (p.Glu826AsnfsTer11)
c.169+7344_169+7347del (n.169+7344_169+7347del)
c.*124+7143_*124+7146del (n.*124+7143_*124+7146del)
c.*2213_*2216del (n.*2213_*2216del)
c.1960_1963del (p.Glu654AsnfsTer11)
c.2863_2866del (p.Glu955AsnfsTer11)
c.-231_-228del (n.-231_-228del)
c.2683_2686del (p.Glu895AsnfsTer11)
 ClinVar
2g.47800849G>ACA46712305FBXO11,MSH6c.2569G>A (p.Glu857Lys)
c.2866G>A (p.Glu956Lys)
n.2950G>A
c.1606+1260G>A (n.1606+1260G>A)
c.2872G>A (p.Glu958Lys)
c.628-2571G>A (n.628-2571G>A)
c.2023G>A (p.Glu675Lys)
c.2476G>A (p.Glu826Lys)
c.169+7346C>T (n.169+7346C>T)
c.*124+7145C>T (n.*124+7145C>T)
c.*2213G>A (n.*2213G>A)
c.1960G>A (p.Glu654Lys)
c.2863G>A (p.Glu955Lys)
c.-231G>A (n.-231G>A)
c.2683G>A (p.Glu895Lys)
 ClinVar dbSNP gnomAD v4
2g.47800849G>CCA346755960FBXO11,MSH6c.2569G>C (p.Glu857Gln)
c.2866G>C (p.Glu956Gln)
n.2950G>C
c.1606+1260G>C (n.1606+1260G>C)
c.2872G>C (p.Glu958Gln)
c.628-2571G>C (n.628-2571G>C)
c.2023G>C (p.Glu675Gln)
c.2476G>C (p.Glu826Gln)
c.169+7346C>G (n.169+7346C>G)
c.*124+7145C>G (n.*124+7145C>G)
c.*2213G>C (n.*2213G>C)
c.1960G>C (p.Glu654Gln)
c.2863G>C (p.Glu955Gln)
c.-231G>C (n.-231G>C)
c.2683G>C (p.Glu895Gln)
 ClinVar dbSNP
2g.47800849G=CA2496049904FBXO11,MSH6c.2569G= (p.Glu857=)
c.2866G= (p.Glu956=)
n.2950G=
c.1606+1260G= (n.1606+1260G=)
c.2872G= (p.Glu958=)
c.628-2571G= (n.628-2571G=)
c.2023G= (p.Glu675=)
c.2476G= (p.Glu826=)
c.169+7346C= (n.169+7346C=)
c.*124+7145C= (n.*124+7145C=)
c.*2213G= (n.*2213G=)
c.1960G= (p.Glu654=)
c.2863G= (p.Glu955=)
c.-231G= (n.-231G=)
c.2683G= (p.Glu895=)
2g.47800849G>TCA346755962FBXO11,MSH6c.2569G>T (p.Glu857Ter)
c.2866G>T (p.Glu956Ter)
n.2950G>T
c.1606+1260G>T (n.1606+1260G>T)
c.2872G>T (p.Glu958Ter)
c.628-2571G>T (n.628-2571G>T)
c.2023G>T (p.Glu675Ter)
c.2476G>T (p.Glu826Ter)
c.169+7346C>A (n.169+7346C>A)
c.*124+7145C>A (n.*124+7145C>A)
c.*2213G>T (n.*2213G>T)
c.1960G>T (p.Glu654Ter)
c.2863G>T (p.Glu955Ter)
c.-231G>T (n.-231G>T)
c.2683G>T (p.Glu895Ter)
 dbSNP
2g.47800850A>CCA346755964FBXO11,MSH6c.2570A>C (p.Glu857Ala)
c.2867A>C (p.Glu956Ala)
n.2951A>C
c.1606+1261A>C (n.1606+1261A>C)
c.2873A>C (p.Glu958Ala)
c.628-2570A>C (n.628-2570A>C)
c.2024A>C (p.Glu675Ala)
c.2477A>C (p.Glu826Ala)
c.169+7345T>G (n.169+7345T>G)
c.*124+7144T>G (n.*124+7144T>G)
c.*2214A>C (n.*2214A>C)
c.1961A>C (p.Glu654Ala)
c.2864A>C (p.Glu955Ala)
c.-230A>C (n.-230A>C)
c.2684A>C (p.Glu895Ala)
2g.47800850A>GCA346755966FBXO11,MSH6c.2570A>G (p.Glu857Gly)
c.2867A>G (p.Glu956Gly)
n.2951A>G
c.1606+1261A>G (n.1606+1261A>G)
c.2873A>G (p.Glu958Gly)
c.628-2570A>G (n.628-2570A>G)
c.2024A>G (p.Glu675Gly)
c.2477A>G (p.Glu826Gly)
c.169+7345T>C (n.169+7345T>C)
c.*124+7144T>C (n.*124+7144T>C)
c.*2214A>G (n.*2214A>G)
c.1961A>G (p.Glu654Gly)
c.2864A>G (p.Glu955Gly)
c.-230A>G (n.-230A>G)
c.2684A>G (p.Glu895Gly)
 COSMIC
2g.47800850A>TCA346755968FBXO11,MSH6c.2570A>T (p.Glu857Val)
c.2867A>T (p.Glu956Val)
n.2951A>T
c.1606+1261A>T (n.1606+1261A>T)
c.2873A>T (p.Glu958Val)
c.628-2570A>T (n.628-2570A>T)
c.2024A>T (p.Glu675Val)
c.2477A>T (p.Glu826Val)
c.169+7345T>A (n.169+7345T>A)
c.*124+7144T>A (n.*124+7144T>A)
c.*2214A>T (n.*2214A>T)
c.1961A>T (p.Glu654Val)
c.2864A>T (p.Glu955Val)
c.-230A>T (n.-230A>T)
c.2684A>T (p.Glu895Val)
 dbSNP
2g.47800851G>ACA426121967FBXO11,MSH6c.2571G>A (p.Glu857=)
c.2868G>A (p.Glu956=)
n.2952G>A
c.1606+1262G>A (n.1606+1262G>A)
c.2874G>A (p.Glu958=)
c.628-2569G>A (n.628-2569G>A)
c.2025G>A (p.Glu675=)
c.2478G>A (p.Glu826=)
c.169+7344C>T (n.169+7344C>T)
c.*124+7143C>T (n.*124+7143C>T)
c.*2215G>A (n.*2215G>A)
c.1962G>A (p.Glu654=)
c.2865G>A (p.Glu955=)
c.-229G>A (n.-229G>A)
c.2685G>A (p.Glu895=)
 ClinVar dbSNP
2g.47800851G>CCA346755969FBXO11,MSH6c.2571G>C (p.Glu857Asp)
c.2868G>C (p.Glu956Asp)
n.2952G>C
c.1606+1262G>C (n.1606+1262G>C)
c.2874G>C (p.Glu958Asp)
c.628-2569G>C (n.628-2569G>C)
c.2025G>C (p.Glu675Asp)
c.2478G>C (p.Glu826Asp)
c.169+7344C>G (n.169+7344C>G)
c.*124+7143C>G (n.*124+7143C>G)
c.*2215G>C (n.*2215G>C)
c.1962G>C (p.Glu654Asp)
c.2865G>C (p.Glu955Asp)
c.-229G>C (n.-229G>C)
c.2685G>C (p.Glu895Asp)
 dbSNP
2g.47800851G=CA2496049905FBXO11,MSH6c.2571G= (p.Glu857=)
c.2868G= (p.Glu956=)
n.2952G=
c.1606+1262G= (n.1606+1262G=)
c.2874G= (p.Glu958=)
c.628-2569G= (n.628-2569G=)
c.2025G= (p.Glu675=)
c.2478G= (p.Glu826=)
c.169+7344C= (n.169+7344C=)
c.*124+7143C= (n.*124+7143C=)
c.*2215G= (n.*2215G=)
c.1962G= (p.Glu654=)
c.2865G= (p.Glu955=)
c.-229G= (n.-229G=)
c.2685G= (p.Glu895=)
2g.47800851G>TCA346755970FBXO11,MSH6c.2571G>T (p.Glu857Asp)
c.2868G>T (p.Glu956Asp)
n.2952G>T
c.1606+1262G>T (n.1606+1262G>T)
c.2874G>T (p.Glu958Asp)
c.628-2569G>T (n.628-2569G>T)
c.2025G>T (p.Glu675Asp)
c.2478G>T (p.Glu826Asp)
c.169+7344C>A (n.169+7344C>A)
c.*124+7143C>A (n.*124+7143C>A)
c.*2215G>T (n.*2215G>T)
c.1962G>T (p.Glu654Asp)
c.2865G>T (p.Glu955Asp)
c.-229G>T (n.-229G>T)
c.2685G>T (p.Glu895Asp)
 dbSNP
2g.47800852A=CA2496049906FBXO11,MSH6c.2572A= (p.Lys858=)
c.2869A= (p.Lys957=)
n.2953A=
c.1606+1263A= (n.1606+1263A=)
c.2875A= (p.Lys959=)
c.628-2568A= (n.628-2568A=)
c.2026A= (p.Lys676=)
c.2479A= (p.Lys827=)
c.169+7343T= (n.169+7343T=)
c.*124+7142T= (n.*124+7142T=)
c.*2216A= (n.*2216A=)
c.1963A= (p.Lys655=)
c.2866A= (p.Lys956=)
c.-228A= (n.-228A=)
c.2686A= (p.Lys896=)
2g.47800852A>CCA346755974FBXO11,MSH6c.2572A>C (p.Lys858Gln)
c.2869A>C (p.Lys957Gln)
n.2953A>C
c.1606+1263A>C (n.1606+1263A>C)
c.2875A>C (p.Lys959Gln)
c.628-2568A>C (n.628-2568A>C)
c.2026A>C (p.Lys676Gln)
c.2479A>C (p.Lys827Gln)
c.169+7343T>G (n.169+7343T>G)
c.*124+7142T>G (n.*124+7142T>G)
c.*2216A>C (n.*2216A>C)
c.1963A>C (p.Lys655Gln)
c.2866A>C (p.Lys956Gln)
c.-228A>C (n.-228A>C)
c.2686A>C (p.Lys896Gln)
2g.47800852A>GCA10577280FBXO11,MSH6c.2572A>G (p.Lys858Glu)
c.2869A>G (p.Lys957Glu)
n.2953A>G
c.1606+1263A>G (n.1606+1263A>G)
c.2875A>G (p.Lys959Glu)
c.628-2568A>G (n.628-2568A>G)
c.2026A>G (p.Lys676Glu)
c.2479A>G (p.Lys827Glu)
c.169+7343T>C (n.169+7343T>C)
c.*124+7142T>C (n.*124+7142T>C)
c.*2216A>G (n.*2216A>G)
c.1963A>G (p.Lys655Glu)
c.2866A>G (p.Lys956Glu)
c.-228A>G (n.-228A>G)
c.2686A>G (p.Lys896Glu)
 ClinVar dbSNP
2g.47800852A>TCA346755976FBXO11,MSH6c.2572A>T (p.Lys858Ter)
c.2869A>T (p.Lys957Ter)
n.2953A>T
c.1606+1263A>T (n.1606+1263A>T)
c.2875A>T (p.Lys959Ter)
c.628-2568A>T (n.628-2568A>T)
c.2026A>T (p.Lys676Ter)
c.2479A>T (p.Lys827Ter)
c.169+7343T>A (n.169+7343T>A)
c.*124+7142T>A (n.*124+7142T>A)
c.*2216A>T (n.*2216A>T)
c.1963A>T (p.Lys655Ter)
c.2866A>T (p.Lys956Ter)
c.-228A>T (n.-228A>T)
c.2686A>T (p.Lys896Ter)
2g.47800853A>CCA346755979FBXO11,MSH6c.2573A>C (p.Lys858Thr)
c.2870A>C (p.Lys957Thr)
n.2954A>C
c.1606+1264A>C (n.1606+1264A>C)
c.2876A>C (p.Lys959Thr)
c.628-2567A>C (n.628-2567A>C)
c.2027A>C (p.Lys676Thr)
c.2480A>C (p.Lys827Thr)
c.169+7342T>G (n.169+7342T>G)
c.*124+7141T>G (n.*124+7141T>G)
c.*2217A>C (n.*2217A>C)
c.1964A>C (p.Lys655Thr)
c.2867A>C (p.Lys956Thr)
c.-227A>C (n.-227A>C)
c.2687A>C (p.Lys896Thr)
 dbSNP
2g.47800853A>GCA346755980FBXO11,MSH6c.2573A>G (p.Lys858Arg)
c.2870A>G (p.Lys957Arg)
n.2954A>G
c.1606+1264A>G (n.1606+1264A>G)
c.2876A>G (p.Lys959Arg)
c.628-2567A>G (n.628-2567A>G)
c.2027A>G (p.Lys676Arg)
c.2480A>G (p.Lys827Arg)
c.169+7342T>C (n.169+7342T>C)
c.*124+7141T>C (n.*124+7141T>C)
c.*2217A>G (n.*2217A>G)
c.1964A>G (p.Lys655Arg)
c.2867A>G (p.Lys956Arg)
c.-227A>G (n.-227A>G)
c.2687A>G (p.Lys896Arg)
2g.47800853A>TCA346755982FBXO11,MSH6c.2573A>T (p.Lys858Ile)
c.2870A>T (p.Lys957Ile)
n.2954A>T
c.1606+1264A>T (n.1606+1264A>T)
c.2876A>T (p.Lys959Ile)
c.628-2567A>T (n.628-2567A>T)
c.2027A>T (p.Lys676Ile)
c.2480A>T (p.Lys827Ile)
c.169+7342T>A (n.169+7342T>A)
c.*124+7141T>A (n.*124+7141T>A)
c.*2217A>T (n.*2217A>T)
c.1964A>T (p.Lys655Ile)
c.2867A>T (p.Lys956Ile)
c.-227A>T (n.-227A>T)
c.2687A>T (p.Lys896Ile)
 dbSNP
2g.47800853_47800855delinsAACCA2496049907FBXO11,MSH6c.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=)
2g.47800853_47800855delinsGAACA1139655910FBXO11,MSH6c.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
2g.47800854A=CA2496049908FBXO11,MSH6c.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=)
2g.47800854A>CCA346755985FBXO11,MSH6c.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
2g.47800854A>GCA069726FBXO11,MSH6c.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
2g.47800854A>TCA346755986FBXO11,MSH6c.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
2g.47800855_47800856dupCA2695200589FBXO11,MSH6c.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
2g.47800855C>ACA346755988FBXO11,MSH6c.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
2g.47800855C=CA2496049911FBXO11,MSH6c.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=)
2g.47800855C>GCA346755990FBXO11,MSH6c.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
2g.47800855C>TCA346755992FBXO11,MSH6c.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
2g.47800855_47800856delinsCACA2496049909FBXO11,MSH6c.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=)
2g.47800855_47800857delinsCAGCA2496049910FBXO11,MSH6c.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=)
2g.47800856delCA915943936FBXO11,MSH6c.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
2g.47800856A=CA2496049913FBXO11,MSH6c.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=)
2g.47800856A>CCA346755996FBXO11,MSH6c.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
2g.47800856A>GCA10578123FBXO11,MSH6c.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
2g.47800856A>TCA346755995FBXO11,MSH6c.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
2g.47800856_47800857delCA658683237FBXO11,MSH6c.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
2g.47800856_47800868delinsAGCGCAACAGAATCA2496049912FBXO11,MSH6c.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=)
2g.47800857G>ACA426121975FBXO11,MSH6c.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
2g.47800857G>CCA346755999FBXO11,MSH6c.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
2g.47800857G=CA2496049914FBXO11,MSH6c.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=)
2g.47800857G>TCA346756000FBXO11,MSH6c.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)
2g.47800857_47800868delCA915943937FBXO11,MSH6c.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
2g.47800858C>ACA346756002FBXO11,MSH6c.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
2g.47800858C=CA2496049915FBXO11,MSH6c.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=)
2g.47800858C>GCA346756004FBXO11,MSH6c.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
2g.47800858C>TCA011024FBXO11,MSH6c.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
2g.47800859G>ACA011033FBXO11,MSH6c.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
2g.47800859G>CCA346756008FBXO11,MSH6c.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
2g.47800859G=CA2496049916FBXO11,MSH6c.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=)
2g.47800859G>TCA346756010FBXO11,MSH6c.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
2g.47800860C>ACA426121980FBXO11,MSH6c.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
2g.47800860C=CA2496049917FBXO11,MSH6c.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=)
2g.47800860C>GCA426121981FBXO11,MSH6c.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
2g.47800860C>TCA011041FBXO11,MSH6c.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
2g.47800860dupCA2580068094FBXO11,MSH6c.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
2g.47800861A>CCA346756014FBXO11,MSH6c.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
2g.47800861A>GCA346756016FBXO11,MSH6c.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
2g.47800861A>TCA346756017FBXO11,MSH6c.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
2g.47800862dupCA2580068095FBXO11,MSH6c.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
2g.47800862delCA2580068096FBXO11,MSH6c.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
2g.47800862A=CA2496049918FBXO11,MSH6c.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=)
2g.47800862A>CCA346756020FBXO11,MSH6c.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
2g.47800862A>GCA069746FBXO11,MSH6c.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
2g.47800862A>TCA346756022FBXO11,MSH6c.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
2g.47800863C>ACA346756025FBXO11,MSH6c.2583C>A (p.Asn861Lys)
c.2880C>A (p.Asn960Lys)
n.2964C>A
c.1606+1274C>A (n.1606+1274C>A)
c.2886C>A (p.Asn962Lys)
c.628-2557C>A (n.628-2557C>A)
c.2037C>A (p.Asn679Lys)
c.2490C>A (p.Asn830Lys)
c.169+7332G>T (n.169+7332G>T)
c.*124+7131G>T (n.*124+7131G>T)
c.*2227C>A (n.*2227C>A)
c.1974C>A (p.Asn658Lys)
c.2877C>A (p.Asn959Lys)
c.-217C>A (n.-217C>A)
c.2697C>A (p.Asn899Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47800863C=CA2496049919FBXO11,MSH6c.2583C= (p.Asn861=)
c.2880C= (p.Asn960=)
n.2964C=
c.1606+1274C= (n.1606+1274C=)
c.2886C= (p.Asn962=)
c.628-2557C= (n.628-2557C=)
c.2037C= (p.Asn679=)
c.2490C= (p.Asn830=)
c.169+7332G= (n.169+7332G=)
c.*124+7131G= (n.*124+7131G=)
c.*2227C= (n.*2227C=)
c.1974C= (p.Asn658=)
c.2877C= (p.Asn959=)
c.-217C= (n.-217C=)
c.2697C= (p.Asn899=)
2g.47800863C>GCA346756023FBXO11,MSH6c.2583C>G (p.Asn861Lys)
c.2880C>G (p.Asn960Lys)
n.2964C>G
c.1606+1274C>G (n.1606+1274C>G)
c.2886C>G (p.Asn962Lys)
c.628-2557C>G (n.628-2557C>G)
c.2037C>G (p.Asn679Lys)
c.2490C>G (p.Asn830Lys)
c.169+7332G>C (n.169+7332G>C)
c.*124+7131G>C (n.*124+7131G>C)
c.*2227C>G (n.*2227C>G)
c.1974C>G (p.Asn658Lys)
c.2877C>G (p.Asn959Lys)
c.-217C>G (n.-217C>G)
c.2697C>G (p.Asn899Lys)
 dbSNP
2g.47800863C>TCA16604191FBXO11,MSH6c.2583C>T (p.Asn861=)
c.2880C>T (p.Asn960=)
n.2964C>T
c.1606+1274C>T (n.1606+1274C>T)
c.2886C>T (p.Asn962=)
c.628-2557C>T (n.628-2557C>T)
c.2037C>T (p.Asn679=)
c.2490C>T (p.Asn830=)
c.169+7332G>A (n.169+7332G>A)
c.*124+7131G>A (n.*124+7131G>A)
c.*2227C>T (n.*2227C>T)
c.1974C>T (p.Asn658=)
c.2877C>T (p.Asn959=)
c.-217C>T (n.-217C>T)
c.2697C>T (p.Asn899=)
 ClinVar dbSNP gnomAD v4
2g.47800864A>CCA426121987FBXO11,MSH6c.2584A>C (p.Arg862=)
c.2881A>C (p.Arg961=)
n.2965A>C
c.1606+1275A>C (n.1606+1275A>C)
c.2887A>C (p.Arg963=)
c.628-2556A>C (n.628-2556A>C)
c.2038A>C (p.Arg680=)
c.2491A>C (p.Arg831=)
c.169+7331T>G (n.169+7331T>G)
c.*124+7130T>G (n.*124+7130T>G)
c.*2228A>C (n.*2228A>C)
c.1975A>C (p.Arg659=)
c.2878A>C (p.Arg960=)
c.-216A>C (n.-216A>C)
c.2698A>C (p.Arg900=)
2g.47800864A>GCA346756027FBXO11,MSH6c.2584A>G (p.Arg862Gly)
c.2881A>G (p.Arg961Gly)
n.2965A>G
c.1606+1275A>G (n.1606+1275A>G)
c.2887A>G (p.Arg963Gly)
c.628-2556A>G (n.628-2556A>G)
c.2038A>G (p.Arg680Gly)
c.2491A>G (p.Arg831Gly)
c.169+7331T>C (n.169+7331T>C)
c.*124+7130T>C (n.*124+7130T>C)
c.*2228A>G (n.*2228A>G)
c.1975A>G (p.Arg659Gly)
c.2878A>G (p.Arg960Gly)
c.-216A>G (n.-216A>G)
c.2698A>G (p.Arg900Gly)
 ClinVar dbSNP
2g.47800864A>TCA346756028FBXO11,MSH6c.2584A>T (p.Arg862Ter)
c.2881A>T (p.Arg961Ter)
n.2965A>T
c.1606+1275A>T (n.1606+1275A>T)
c.2887A>T (p.Arg963Ter)
c.628-2556A>T (n.628-2556A>T)
c.2038A>T (p.Arg680Ter)
c.2491A>T (p.Arg831Ter)
c.169+7331T>A (n.169+7331T>A)
c.*124+7130T>A (n.*124+7130T>A)
c.*2228A>T (n.*2228A>T)
c.1975A>T (p.Arg659Ter)
c.2878A>T (p.Arg960Ter)
c.-216A>T (n.-216A>T)
c.2698A>T (p.Arg900Ter)
 dbSNP
2g.47800865G>ACA346756030FBXO11,MSH6c.2585G>A (p.Arg862Lys)
c.2882G>A (p.Arg961Lys)
n.2966G>A
c.1606+1276G>A (n.1606+1276G>A)
c.2888G>A (p.Arg963Lys)
c.628-2555G>A (n.628-2555G>A)
c.2039G>A (p.Arg680Lys)
c.2492G>A (p.Arg831Lys)
c.169+7330C>T (n.169+7330C>T)
c.*124+7129C>T (n.*124+7129C>T)
c.*2229G>A (n.*2229G>A)
c.1976G>A (p.Arg659Lys)
c.2879G>A (p.Arg960Lys)
c.-215G>A (n.-215G>A)
c.2699G>A (p.Arg900Lys)
 dbSNP
2g.47800865G>CCA069753FBXO11,MSH6c.2585G>C (p.Arg862Thr)
c.2882G>C (p.Arg961Thr)
n.2966G>C
c.1606+1276G>C (n.1606+1276G>C)
c.2888G>C (p.Arg963Thr)
c.628-2555G>C (n.628-2555G>C)
c.2039G>C (p.Arg680Thr)
c.2492G>C (p.Arg831Thr)
c.169+7330C>G (n.169+7330C>G)
c.*124+7129C>G (n.*124+7129C>G)
c.*2229G>C (n.*2229G>C)
c.1976G>C (p.Arg659Thr)
c.2879G>C (p.Arg960Thr)
c.-215G>C (n.-215G>C)
c.2699G>C (p.Arg900Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800865G=CA2496049920FBXO11,MSH6c.2585G= (p.Arg862=)
c.2882G= (p.Arg961=)
n.2966G=
c.1606+1276G= (n.1606+1276G=)
c.2888G= (p.Arg963=)
c.628-2555G= (n.628-2555G=)
c.2039G= (p.Arg680=)
c.2492G= (p.Arg831=)
c.169+7330C= (n.169+7330C=)
c.*124+7129C= (n.*124+7129C=)
c.*2229G= (n.*2229G=)
c.1976G= (p.Arg659=)
c.2879G= (p.Arg960=)
c.-215G= (n.-215G=)
c.2699G= (p.Arg900=)
2g.47800865G>TCA011048FBXO11,MSH6c.2585G>T (p.Arg862Ile)
c.2882G>T (p.Arg961Ile)
n.2966G>T
c.1606+1276G>T (n.1606+1276G>T)
c.2888G>T (p.Arg963Ile)
c.628-2555G>T (n.628-2555G>T)
c.2039G>T (p.Arg680Ile)
c.2492G>T (p.Arg831Ile)
c.169+7330C>A (n.169+7330C>A)
c.*124+7129C>A (n.*124+7129C>A)
c.*2229G>T (n.*2229G>T)
c.1976G>T (p.Arg659Ile)
c.2879G>T (p.Arg960Ile)
c.-215G>T (n.-215G>T)
c.2699G>T (p.Arg900Ile)
 ClinVar dbSNP COSMIC
2g.47800866A=CA2496049921FBXO11,MSH6c.2586A= (p.Arg862=)
c.2883A= (p.Arg961=)
n.2967A=
c.1606+1277A= (n.1606+1277A=)
c.2889A= (p.Arg963=)
c.628-2554A= (n.628-2554A=)
c.2040A= (p.Arg680=)
c.2493A= (p.Arg831=)
c.169+7329T= (n.169+7329T=)
c.*124+7128T= (n.*124+7128T=)
c.*2230A= (n.*2230A=)
c.1977A= (p.Arg659=)
c.2880A= (p.Arg960=)
c.-214A= (n.-214A=)
c.2700A= (p.Arg900=)
2g.47800866A>CCA346756032FBXO11,MSH6c.2586A>C (p.Arg862Ser)
c.2883A>C (p.Arg961Ser)
n.2967A>C
c.1606+1277A>C (n.1606+1277A>C)
c.2889A>C (p.Arg963Ser)
c.628-2554A>C (n.628-2554A>C)
c.2040A>C (p.Arg680Ser)
c.2493A>C (p.Arg831Ser)
c.169+7329T>G (n.169+7329T>G)
c.*124+7128T>G (n.*124+7128T>G)
c.*2230A>C (n.*2230A>C)
c.1977A>C (p.Arg659Ser)
c.2880A>C (p.Arg960Ser)
c.-214A>C (n.-214A>C)
c.2700A>C (p.Arg900Ser)
2g.47800866A>GCA16610932FBXO11,MSH6c.2586A>G (p.Arg862=)
c.2883A>G (p.Arg961=)
n.2967A>G
c.1606+1277A>G (n.1606+1277A>G)
c.2889A>G (p.Arg963=)
c.628-2554A>G (n.628-2554A>G)
c.2040A>G (p.Arg680=)
c.2493A>G (p.Arg831=)
c.169+7329T>C (n.169+7329T>C)
c.*124+7128T>C (n.*124+7128T>C)
c.*2230A>G (n.*2230A>G)
c.1977A>G (p.Arg659=)
c.2880A>G (p.Arg960=)
c.-214A>G (n.-214A>G)
c.2700A>G (p.Arg900=)
 ClinVar dbSNP gnomAD v4
2g.47800866A>TCA346756034FBXO11,MSH6c.2586A>T (p.Arg862Ser)
c.2883A>T (p.Arg961Ser)
n.2967A>T
c.1606+1277A>T (n.1606+1277A>T)
c.2889A>T (p.Arg963Ser)
c.628-2554A>T (n.628-2554A>T)
c.2040A>T (p.Arg680Ser)
c.2493A>T (p.Arg831Ser)
c.169+7329T>A (n.169+7329T>A)
c.*124+7128T>A (n.*124+7128T>A)
c.*2230A>T (n.*2230A>T)
c.1977A>T (p.Arg659Ser)
c.2880A>T (p.Arg960Ser)
c.-214A>T (n.-214A>T)
c.2700A>T (p.Arg900Ser)
 ClinVar
2g.47800866_47800869dupCA2695200591FBXO11,MSH6c.2586_2589dup (p.Gly864AsnfsTer4)
c.2883_2886dup (p.Gly963AsnfsTer4)
n.2967_2970dup
c.1606+1277_1606+1280dup (n.1606+1277_1606+1280dup)
c.2889_2892dup (p.Gly965AsnfsTer4)
c.628-2554_628-2551dup (n.628-2554_628-2551dup)
c.2040_2043dup (p.Gly682AsnfsTer4)
c.2493_2496dup (p.Gly833AsnfsTer4)
c.169+7326_169+7329dup (n.169+7326_169+7329dup)
c.*124+7125_*124+7128dup (n.*124+7125_*124+7128dup)
c.*2230_*2233dup (n.*2230_*2233dup)
c.1977_1980dup (p.Gly661AsnfsTer4)
c.2880_2883dup (p.Gly962AsnfsTer4)
c.-214_-211dup (n.-214_-211dup)
c.2700_2703dup (p.Gly902AsnfsTer4)
 ClinVar
2g.47800867A=CA2496049922FBXO11,MSH6c.2587A= (p.Ile863=)
c.2884A= (p.Ile962=)
n.2968A=
c.1606+1278A= (n.1606+1278A=)
c.2890A= (p.Ile964=)
c.628-2553A= (n.628-2553A=)
c.2041A= (p.Ile681=)
c.2494A= (p.Ile832=)
c.169+7328T= (n.169+7328T=)
c.*124+7127T= (n.*124+7127T=)
c.*2231A= (n.*2231A=)
c.1978A= (p.Ile660=)
c.2881A= (p.Ile961=)
c.-213A= (n.-213A=)
c.2701A= (p.Ile901=)
2g.47800867A>CCA346756037FBXO11,MSH6c.2587A>C (p.Ile863Leu)
c.2884A>C (p.Ile962Leu)
n.2968A>C
c.1606+1278A>C (n.1606+1278A>C)
c.2890A>C (p.Ile964Leu)
c.628-2553A>C (n.628-2553A>C)
c.2041A>C (p.Ile681Leu)
c.2494A>C (p.Ile832Leu)
c.169+7328T>G (n.169+7328T>G)
c.*124+7127T>G (n.*124+7127T>G)
c.*2231A>C (n.*2231A>C)
c.1978A>C (p.Ile660Leu)
c.2881A>C (p.Ile961Leu)
c.-213A>C (n.-213A>C)
c.2701A>C (p.Ile901Leu)
 dbSNP
2g.47800867A>GCA346756039FBXO11,MSH6c.2587A>G (p.Ile863Val)
c.2884A>G (p.Ile962Val)
n.2968A>G
c.1606+1278A>G (n.1606+1278A>G)
c.2890A>G (p.Ile964Val)
c.628-2553A>G (n.628-2553A>G)
c.2041A>G (p.Ile681Val)
c.2494A>G (p.Ile832Val)
c.169+7328T>C (n.169+7328T>C)
c.*124+7127T>C (n.*124+7127T>C)
c.*2231A>G (n.*2231A>G)
c.1978A>G (p.Ile660Val)
c.2881A>G (p.Ile961Val)
c.-213A>G (n.-213A>G)
c.2701A>G (p.Ile901Val)
 ClinVar dbSNP gnomAD v4
2g.47800867A>TCA346756038FBXO11,MSH6c.2587A>T (p.Ile863Phe)
c.2884A>T (p.Ile962Phe)
n.2968A>T
c.1606+1278A>T (n.1606+1278A>T)
c.2890A>T (p.Ile964Phe)
c.628-2553A>T (n.628-2553A>T)
c.2041A>T (p.Ile681Phe)
c.2494A>T (p.Ile832Phe)
c.169+7328T>A (n.169+7328T>A)
c.*124+7127T>A (n.*124+7127T>A)
c.*2231A>T (n.*2231A>T)
c.1978A>T (p.Ile660Phe)
c.2881A>T (p.Ile961Phe)
c.-213A>T (n.-213A>T)
c.2701A>T (p.Ile901Phe)
 dbSNP
2g.47800868T>ACA346756042FBXO11,MSH6c.2588T>A (p.Ile863Asn)
c.2885T>A (p.Ile962Asn)
n.2969T>A
c.1606+1279T>A (n.1606+1279T>A)
c.2891T>A (p.Ile964Asn)
c.628-2552T>A (n.628-2552T>A)
c.2042T>A (p.Ile681Asn)
c.2495T>A (p.Ile832Asn)
c.169+7327A>T (n.169+7327A>T)
c.*124+7126A>T (n.*124+7126A>T)
c.*2232T>A (n.*2232T>A)
c.1979T>A (p.Ile660Asn)
c.2882T>A (p.Ile961Asn)
c.-212T>A (n.-212T>A)
c.2702T>A (p.Ile901Asn)
 dbSNP gnomAD v4
2g.47800868T>CCA069760FBXO11,MSH6c.2588T>C (p.Ile863Thr)
c.2885T>C (p.Ile962Thr)
n.2969T>C
c.1606+1279T>C (n.1606+1279T>C)
c.2891T>C (p.Ile964Thr)
c.628-2552T>C (n.628-2552T>C)
c.2042T>C (p.Ile681Thr)
c.2495T>C (p.Ile832Thr)
c.169+7327A>G (n.169+7327A>G)
c.*124+7126A>G (n.*124+7126A>G)
c.*2232T>C (n.*2232T>C)
c.1979T>C (p.Ile660Thr)
c.2882T>C (p.Ile961Thr)
c.-212T>C (n.-212T>C)
c.2702T>C (p.Ile901Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800868T>GCA346756045FBXO11,MSH6c.2588T>G (p.Ile863Ser)
c.2885T>G (p.Ile962Ser)
n.2969T>G
c.1606+1279T>G (n.1606+1279T>G)
c.2891T>G (p.Ile964Ser)
c.628-2552T>G (n.628-2552T>G)
c.2042T>G (p.Ile681Ser)
c.2495T>G (p.Ile832Ser)
c.169+7327A>C (n.169+7327A>C)
c.*124+7126A>C (n.*124+7126A>C)
c.*2232T>G (n.*2232T>G)
c.1979T>G (p.Ile660Ser)
c.2882T>G (p.Ile961Ser)
c.-212T>G (n.-212T>G)
c.2702T>G (p.Ile901Ser)
 dbSNP
2g.47800868T=CA2496049923FBXO11,MSH6c.2588T= (p.Ile863=)
c.2885T= (p.Ile962=)
n.2969T=
c.1606+1279T= (n.1606+1279T=)
c.2891T= (p.Ile964=)
c.628-2552T= (n.628-2552T=)
c.2042T= (p.Ile681=)
c.2495T= (p.Ile832=)
c.169+7327A= (n.169+7327A=)
c.*124+7126A= (n.*124+7126A=)
c.*2232T= (n.*2232T=)
c.1979T= (p.Ile660=)
c.2882T= (p.Ile961=)
c.-212T= (n.-212T=)
c.2702T= (p.Ile901=)
2g.47800869T>ACA426121991FBXO11,MSH6c.2589T>A (p.Ile863=)
c.2886T>A (p.Ile962=)
n.2970T>A
c.1606+1280T>A (n.1606+1280T>A)
c.2892T>A (p.Ile964=)
c.628-2551T>A (n.628-2551T>A)
c.2043T>A (p.Ile681=)
c.2496T>A (p.Ile832=)
c.169+7326A>T (n.169+7326A>T)
c.*124+7125A>T (n.*124+7125A>T)
c.*2233T>A (n.*2233T>A)
c.1980T>A (p.Ile660=)
c.2883T>A (p.Ile961=)
c.-211T>A (n.-211T>A)
c.2703T>A (p.Ile901=)
2g.47800869T>CCA426121992FBXO11,MSH6c.2589T>C (p.Ile863=)
c.2886T>C (p.Ile962=)
n.2970T>C
c.1606+1280T>C (n.1606+1280T>C)
c.2892T>C (p.Ile964=)
c.628-2551T>C (n.628-2551T>C)
c.2043T>C (p.Ile681=)
c.2496T>C (p.Ile832=)
c.169+7326A>G (n.169+7326A>G)
c.*124+7125A>G (n.*124+7125A>G)
c.*2233T>C (n.*2233T>C)
c.1980T>C (p.Ile660=)
c.2883T>C (p.Ile961=)
c.-211T>C (n.-211T>C)
c.2703T>C (p.Ile901=)
2g.47800869T>GCA069765FBXO11,MSH6c.2589T>G (p.Ile863Met)
c.2886T>G (p.Ile962Met)
n.2970T>G
c.1606+1280T>G (n.1606+1280T>G)
c.2892T>G (p.Ile964Met)
c.628-2551T>G (n.628-2551T>G)
c.2043T>G (p.Ile681Met)
c.2496T>G (p.Ile832Met)
c.169+7326A>C (n.169+7326A>C)
c.*124+7125A>C (n.*124+7125A>C)
c.*2233T>G (n.*2233T>G)
c.1980T>G (p.Ile660Met)
c.2883T>G (p.Ile961Met)
c.-211T>G (n.-211T>G)
c.2703T>G (p.Ile901Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800869T=CA2496049924FBXO11,MSH6c.2589T= (p.Ile863=)
c.2886T= (p.Ile962=)
n.2970T=
c.1606+1280T= (n.1606+1280T=)
c.2892T= (p.Ile964=)
c.628-2551T= (n.628-2551T=)
c.2043T= (p.Ile681=)
c.2496T= (p.Ile832=)
c.169+7326A= (n.169+7326A=)
c.*124+7125A= (n.*124+7125A=)
c.*2233T= (n.*2233T=)
c.1980T= (p.Ile660=)
c.2883T= (p.Ile961=)
c.-211T= (n.-211T=)
c.2703T= (p.Ile901=)
2g.47800870G>ACA346756052FBXO11,MSH6c.2590G>A (p.Gly864Ser)
c.2887G>A (p.Gly963Ser)
n.2971G>A
c.1606+1281G>A (n.1606+1281G>A)
c.2893G>A (p.Gly965Ser)
c.628-2550G>A (n.628-2550G>A)
c.2044G>A (p.Gly682Ser)
c.2497G>A (p.Gly833Ser)
c.169+7325C>T (n.169+7325C>T)
c.*124+7124C>T (n.*124+7124C>T)
c.*2234G>A (n.*2234G>A)
c.1981G>A (p.Gly661Ser)
c.2884G>A (p.Gly962Ser)
c.-210G>A (n.-210G>A)
c.2704G>A (p.Gly902Ser)
 ClinVar dbSNP
2g.47800870G>CCA346756049FBXO11,MSH6c.2590G>C (p.Gly864Arg)
c.2887G>C (p.Gly963Arg)
n.2971G>C
c.1606+1281G>C (n.1606+1281G>C)
c.2893G>C (p.Gly965Arg)
c.628-2550G>C (n.628-2550G>C)
c.2044G>C (p.Gly682Arg)
c.2497G>C (p.Gly833Arg)
c.169+7325C>G (n.169+7325C>G)
c.*124+7124C>G (n.*124+7124C>G)
c.*2234G>C (n.*2234G>C)
c.1981G>C (p.Gly661Arg)
c.2884G>C (p.Gly962Arg)
c.-210G>C (n.-210G>C)
c.2704G>C (p.Gly902Arg)
 dbSNP
2g.47800870G>TCA346756051FBXO11,MSH6c.2590G>T (p.Gly864Cys)
c.2887G>T (p.Gly963Cys)
n.2971G>T
c.1606+1281G>T (n.1606+1281G>T)
c.2893G>T (p.Gly965Cys)
c.628-2550G>T (n.628-2550G>T)
c.2044G>T (p.Gly682Cys)
c.2497G>T (p.Gly833Cys)
c.169+7325C>A (n.169+7325C>A)
c.*124+7124C>A (n.*124+7124C>A)
c.*2234G>T (n.*2234G>T)
c.1981G>T (p.Gly661Cys)
c.2884G>T (p.Gly962Cys)
c.-210G>T (n.-210G>T)
c.2704G>T (p.Gly902Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.47800871G>ACA346756054FBXO11,MSH6c.2591G>A (p.Gly864Asp)
c.2888G>A (p.Gly963Asp)
n.2972G>A
c.1606+1282G>A (n.1606+1282G>A)
c.2894G>A (p.Gly965Asp)
c.628-2549G>A (n.628-2549G>A)
c.2045G>A (p.Gly682Asp)
c.2498G>A (p.Gly833Asp)
c.169+7324C>T (n.169+7324C>T)
c.*124+7123C>T (n.*124+7123C>T)
c.*2235G>A (n.*2235G>A)
c.1982G>A (p.Gly661Asp)
c.2885G>A (p.Gly962Asp)
c.-209G>A (n.-209G>A)
c.2705G>A (p.Gly902Asp)
 ClinVar dbSNP
2g.47800871G>CCA346756056FBXO11,MSH6c.2591G>C (p.Gly864Ala)
c.2888G>C (p.Gly963Ala)
n.2972G>C
c.1606+1282G>C (n.1606+1282G>C)
c.2894G>C (p.Gly965Ala)
c.628-2549G>C (n.628-2549G>C)
c.2045G>C (p.Gly682Ala)
c.2498G>C (p.Gly833Ala)
c.169+7324C>G (n.169+7324C>G)
c.*124+7123C>G (n.*124+7123C>G)
c.*2235G>C (n.*2235G>C)
c.1982G>C (p.Gly661Ala)
c.2885G>C (p.Gly962Ala)
c.-209G>C (n.-209G>C)
c.2705G>C (p.Gly902Ala)
 dbSNP
2g.47800871G>TCA346756057FBXO11,MSH6c.2591G>T (p.Gly864Val)
c.2888G>T (p.Gly963Val)
n.2972G>T
c.1606+1282G>T (n.1606+1282G>T)
c.2894G>T (p.Gly965Val)
c.628-2549G>T (n.628-2549G>T)
c.2045G>T (p.Gly682Val)
c.2498G>T (p.Gly833Val)
c.169+7324C>A (n.169+7324C>A)
c.*124+7123C>A (n.*124+7123C>A)
c.*2235G>T (n.*2235G>T)
c.1982G>T (p.Gly661Val)
c.2885G>T (p.Gly962Val)
c.-209G>T (n.-209G>T)
c.2705G>T (p.Gly902Val)
 dbSNP
2g.47800872C>ACA426121997FBXO11,MSH6c.2592C>A (p.Gly864=)
c.2889C>A (p.Gly963=)
n.2973C>A
c.1606+1283C>A (n.1606+1283C>A)
c.2895C>A (p.Gly965=)
c.628-2548C>A (n.628-2548C>A)
c.2046C>A (p.Gly682=)
c.2499C>A (p.Gly833=)
c.169+7323G>T (n.169+7323G>T)
c.*124+7122G>T (n.*124+7122G>T)
c.*2236C>A (n.*2236C>A)
c.1983C>A (p.Gly661=)
c.2886C>A (p.Gly962=)
c.-208C>A (n.-208C>A)
c.2706C>A (p.Gly902=)
2g.47800872C=CA2496049925FBXO11,MSH6c.2592C= (p.Gly864=)
c.2889C= (p.Gly963=)
n.2973C=
c.1606+1283C= (n.1606+1283C=)
c.2895C= (p.Gly965=)
c.628-2548C= (n.628-2548C=)
c.2046C= (p.Gly682=)
c.2499C= (p.Gly833=)
c.169+7323G= (n.169+7323G=)
c.*124+7122G= (n.*124+7122G=)
c.*2236C= (n.*2236C=)
c.1983C= (p.Gly661=)
c.2886C= (p.Gly962=)
c.-208C= (n.-208C=)
c.2706C= (p.Gly902=)
2g.47800872C>GCA426121996FBXO11,MSH6c.2592C>G (p.Gly864=)
c.2889C>G (p.Gly963=)
n.2973C>G
c.1606+1283C>G (n.1606+1283C>G)
c.2895C>G (p.Gly965=)
c.628-2548C>G (n.628-2548C>G)
c.2046C>G (p.Gly682=)
c.2499C>G (p.Gly833=)
c.169+7323G>C (n.169+7323G>C)
c.*124+7122G>C (n.*124+7122G>C)
c.*2236C>G (n.*2236C>G)
c.1983C>G (p.Gly661=)
c.2886C>G (p.Gly962=)
c.-208C>G (n.-208C>G)
c.2706C>G (p.Gly902=)
2g.47800872C>TCA069773FBXO11,MSH6c.2592C>T (p.Gly864=)
c.2889C>T (p.Gly963=)
n.2973C>T
c.1606+1283C>T (n.1606+1283C>T)
c.2895C>T (p.Gly965=)
c.628-2548C>T (n.628-2548C>T)
c.2046C>T (p.Gly682=)
c.2499C>T (p.Gly833=)
c.169+7323G>A (n.169+7323G>A)
c.*124+7122G>A (n.*124+7122G>A)
c.*2236C>T (n.*2236C>T)
c.1983C>T (p.Gly661=)
c.2886C>T (p.Gly962=)
c.-208C>T (n.-208C>T)
c.2706C>T (p.Gly902=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800873T>ACA346756061FBXO11,MSH6c.2593T>A (p.Cys865Ser)
c.2890T>A (p.Cys964Ser)
n.2974T>A
c.1606+1284T>A (n.1606+1284T>A)
c.2896T>A (p.Cys966Ser)
c.628-2547T>A (n.628-2547T>A)
c.2047T>A (p.Cys683Ser)
c.2500T>A (p.Cys834Ser)
c.169+7322A>T (n.169+7322A>T)
c.*124+7121A>T (n.*124+7121A>T)
c.*2237T>A (n.*2237T>A)
c.1984T>A (p.Cys662Ser)
c.2887T>A (p.Cys963Ser)
c.-207T>A (n.-207T>A)
c.2707T>A (p.Cys903Ser)
 dbSNP
2g.47800873T>CCA346756062FBXO11,MSH6c.2593T>C (p.Cys865Arg)
c.2890T>C (p.Cys964Arg)
n.2974T>C
c.1606+1284T>C (n.1606+1284T>C)
c.2896T>C (p.Cys966Arg)
c.628-2547T>C (n.628-2547T>C)
c.2047T>C (p.Cys683Arg)
c.2500T>C (p.Cys834Arg)
c.169+7322A>G (n.169+7322A>G)
c.*124+7121A>G (n.*124+7121A>G)
c.*2237T>C (n.*2237T>C)
c.1984T>C (p.Cys662Arg)
c.2887T>C (p.Cys963Arg)
c.-207T>C (n.-207T>C)
c.2707T>C (p.Cys903Arg)
 ClinVar dbSNP
2g.47800873T>GCA346756064FBXO11,MSH6c.2593T>G (p.Cys865Gly)
c.2890T>G (p.Cys964Gly)
n.2974T>G
c.1606+1284T>G (n.1606+1284T>G)
c.2896T>G (p.Cys966Gly)
c.628-2547T>G (n.628-2547T>G)
c.2047T>G (p.Cys683Gly)
c.2500T>G (p.Cys834Gly)
c.169+7322A>C (n.169+7322A>C)
c.*124+7121A>C (n.*124+7121A>C)
c.*2237T>G (n.*2237T>G)
c.1984T>G (p.Cys662Gly)
c.2887T>G (p.Cys963Gly)
c.-207T>G (n.-207T>G)
c.2707T>G (p.Cys903Gly)
2g.47800873T=CA2496049926FBXO11,MSH6c.2593T= (p.Cys865=)
c.2890T= (p.Cys964=)
n.2974T=
c.1606+1284T= (n.1606+1284T=)
c.2896T= (p.Cys966=)
c.628-2547T= (n.628-2547T=)
c.2047T= (p.Cys683=)
c.2500T= (p.Cys834=)
c.169+7322A= (n.169+7322A=)
c.*124+7121A= (n.*124+7121A=)
c.*2237T= (n.*2237T=)
c.1984T= (p.Cys662=)
c.2887T= (p.Cys963=)
c.-207T= (n.-207T=)
c.2707T= (p.Cys903=)
2g.47800874G>ACA346756067FBXO11,MSH6c.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
2g.47800874G>CCA346756070FBXO11,MSH6c.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
2g.47800874G>TCA346756068FBXO11,MSH6c.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)
2g.47800875T>ACA346756072FBXO11,MSH6c.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
2g.47800875T>CCA426122000FBXO11,MSH6c.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
2g.47800875T>GCA346756074FBXO11,MSH6c.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
2g.47800875T=CA2496049927FBXO11,MSH6c.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=)
2g.47800875dupCA2580068100FBXO11,MSH6c.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
2g.47800876A=CA2496049928FBXO11,MSH6c.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=)
2g.47800876A>CCA426122002FBXO11,MSH6c.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=)
2g.47800876A>GCA346756076FBXO11,MSH6c.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
2g.47800876A>TCA346756077FBXO11,MSH6c.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
2g.47800876dupCA2586964841FBXO11,MSH6c.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)
2g.47800877G>ACA346756083FBXO11,MSH6c.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
2g.47800877G>CCA346756080FBXO11,MSH6c.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
2g.47800877G=CA2496049929FBXO11,MSH6c.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=)
2g.47800877G>TCA346756081FBXO11,MSH6c.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
2g.47800878G>ACA426122004FBXO11,MSH6c.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
2g.47800878G>CCA346756085FBXO11,MSH6c.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
2g.47800878G=CA2496049930FBXO11,MSH6c.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=)
2g.47800878G>TCA346756086FBXO11,MSH6c.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
2g.47800879A=CA2496049931FBXO11,MSH6c.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=)
2g.47800879A>CCA346756087FBXO11,MSH6c.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)
2g.47800879A>GCA346756089FBXO11,MSH6c.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
2g.47800879A>TCA346756091FBXO11,MSH6c.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)
2g.47800880C>ACA346756093FBXO11,MSH6c.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
2g.47800880C=CA2496049932FBXO11,MSH6c.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=)
2g.47800880C>GCA346756094FBXO11,MSH6c.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
2g.47800880C>TCA346756096FBXO11,MSH6c.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
2g.47800880_47800881dupCA2499216120FBXO11,MSH6c.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
2g.47800880_47800882delinsCCACA2496049934FBXO11,MSH6c.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=)
2g.47800880_47800886delinsCCATAGTCA2496049933FBXO11,MSH6c.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=)
2g.47800881C>ACA426122008FBXO11,MSH6c.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
2g.47800881C=CA2496049935FBXO11,MSH6c.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=)
2g.47800881C>GCA426122010FBXO11,MSH6c.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
2g.47800881C>TCA069786FBXO11,MSH6c.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
2g.47800881_47800882delCA1030294213FBXO11,MSH6c.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
2g.47800882_47800887delCA769515817FBXO11,MSH6c.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
2g.47800882A=CA2496049936FBXO11,MSH6c.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=)
2g.47800882A>CCA346756100FBXO11,MSH6c.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)
2g.47800882A>GCA10577283FBXO11,MSH6c.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
2g.47800882A>TCA346756102FBXO11,MSH6c.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
2g.47800883_47800884delCA2580068104FBXO11,MSH6c.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

Number of alleles fetched