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.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.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.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)
 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

Number of alleles fetched