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.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.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.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.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

Number of alleles fetched