Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47795896_47805709delCA658655622MSH6c.460_3646+2del
c.238-2715_3256+2del
c.163_3349+2del
c.169+2491_170-6451del (p.=)
c.*124+2290_*125-6451del (p.=)
c.458-2715_*2993+2del
c.-443_2740+2del
c.-279-2715_2740+2del
c.-2637_550+2del
c.277_3463+2del
2g.47803431_47807699delCA1139656956c.2887_*839del
c.3184_*839del
c.169+498_169+4766del (p.=)
c.*124+297_*124+4565del (p.=)
ClinVar
2g.47805635_47805640delinsGTTGAACA2496053477MSH6c.3574_3579delinsGTTGAA (p.Val1192=)
c.3184_3189delinsGTTGAA (p.Val1062=)
c.3277_3282delinsGTTGAA (p.Val1093=)
c.169+2555_169+2560delinsTTCAAC (p.=)
c.*124+2354_*124+2359delinsTTCAAC (p.=)
c.*2921_*2926delinsGTTGAA (p.=)
c.2668_2673delinsGTTGAA (p.Val890=)
c.478_483delinsGTTGAA (p.Val160=)
c.3391_3396delinsGTTGAA (p.Val1131=)
2g.47805638_47805642delCA16611172MSH6c.3577_3581del (p.Glu1193LysfsTer2)
c.3187_3191del (p.Glu1063LysfsTer2)
c.3280_3284del (p.Glu1094LysfsTer2)
c.169+2555_169+2559del (p.=)
c.*124+2354_*124+2358del (p.=)
c.*2924_*2928del (p.=)
c.2671_2675del (p.Glu891LysfsTer2)
c.481_485del (p.Glu161LysfsTer2)
c.3394_3398del (p.Glu1132LysfsTer2)
ClinVar dbSNP
2g.47805637_47805638delinsTGCA2496053480MSH6c.3576_3577delinsTG (p.Val1192=)
c.3186_3187delinsTG (p.Val1062=)
c.3279_3280delinsTG (p.Val1093=)
c.169+2557_169+2558delinsCA (p.=)
c.*124+2356_*124+2357delinsCA (p.=)
c.*2923_*2924delinsTG (p.=)
c.2670_2671delinsTG (p.Val890=)
c.480_481delinsTG (p.Val160=)
c.3393_3394delinsTG (p.Val1131=)
2g.47805638_47805641dupCA071421MSH6c.3577_3580dup (p.Leu1194Ter)
c.3187_3190dup (p.Leu1064Ter)
c.3280_3283dup (p.Leu1095Ter)
c.169+2555_169+2558dup (p.=)
c.*124+2354_*124+2357dup (p.=)
c.*2924_*2927dup (p.=)
c.2671_2674dup (p.Leu892Ter)
c.481_484dup (p.Leu162Ter)
c.3394_3397dup (p.Leu1133Ter)
ClinVar dbSNP ExAC gnomAD
2g.47805638delCA645369304MSH6c.3577del (p.Glu1193AsnfsTer2)
c.3187del (p.Glu1063AsnfsTer2)
c.3280del (p.Glu1094AsnfsTer2)
c.169+2557del (p.=)
c.*124+2356del (p.=)
c.*2924del (p.=)
c.2671del (p.Glu891AsnfsTer2)
c.481del (p.Glu161AsnfsTer2)
c.3394del (p.Glu1132AsnfsTer2)
ClinVar dbSNP
2g.47805638G>ACA013478MSH6c.3577G>A (p.Glu1193Lys)
c.3187G>A (p.Glu1063Lys)
c.3280G>A (p.Glu1094Lys)
c.169+2557C>T (p.=)
c.*124+2356C>T (p.=)
c.*2924G>A (p.=)
c.2671G>A (p.Glu891Lys)
c.481G>A (p.Glu161Lys)
c.3394G>A (p.Glu1132Lys)
ClinVar dbSNP
2g.47805638G>CCA346760504MSH6c.3577G>C (p.Glu1193Gln)
c.3187G>C (p.Glu1063Gln)
c.3280G>C (p.Glu1094Gln)
c.169+2557C>G (p.=)
c.*124+2356C>G (p.=)
c.*2924G>C (p.=)
c.2671G>C (p.Glu891Gln)
c.481G>C (p.Glu161Gln)
c.3394G>C (p.Glu1132Gln)
gnomAD
2g.47805638G=CA2496053482MSH6c.3577G= (p.Glu1193=)
c.3187G= (p.Glu1063=)
c.3280G= (p.Glu1094=)
c.169+2557C= (p.=)
c.*124+2356C= (p.=)
c.*2924G= (p.=)
c.2671G= (p.Glu891=)
c.481G= (p.Glu161=)
c.3394G= (p.Glu1132=)
2g.47805638G>TCA346760505MSH6c.3577G>T (p.Glu1193Ter)
c.3187G>T (p.Glu1063Ter)
c.3280G>T (p.Glu1094Ter)
c.169+2557C>A (p.=)
c.*124+2356C>A (p.=)
c.*2924G>T (p.=)
c.2671G>T (p.Glu891Ter)
c.481G>T (p.Glu161Ter)
c.3394G>T (p.Glu1132Ter)
2g.47805639A>CCA346760508MSH6c.3578A>C (p.Glu1193Ala)
c.3188A>C (p.Glu1063Ala)
c.3281A>C (p.Glu1094Ala)
c.169+2556T>G (p.=)
c.*124+2355T>G (p.=)
c.*2925A>C (p.=)
c.2672A>C (p.Glu891Ala)
c.482A>C (p.Glu161Ala)
c.3395A>C (p.Glu1132Ala)
2g.47805639A>GCA346760507MSH6c.3578A>G (p.Glu1193Gly)
c.3188A>G (p.Glu1063Gly)
c.3281A>G (p.Glu1094Gly)
c.169+2556T>C (p.=)
c.*124+2355T>C (p.=)
c.*2925A>G (p.=)
c.2672A>G (p.Glu891Gly)
c.482A>G (p.Glu161Gly)
c.3395A>G (p.Glu1132Gly)
2g.47805639A>TCA346760506MSH6c.3578A>T (p.Glu1193Val)
c.3188A>T (p.Glu1063Val)
c.3281A>T (p.Glu1094Val)
c.169+2556T>A (p.=)
c.*124+2355T>A (p.=)
c.*2925A>T (p.=)
c.2672A>T (p.Glu891Val)
c.482A>T (p.Glu161Val)
c.3395A>T (p.Glu1132Val)
2g.47805640dupCA1139656967MSH6c.3579dup (p.Leu1194IlefsTer3)
c.3189dup (p.Leu1064IlefsTer3)
c.3282dup (p.Leu1095IlefsTer3)
c.169+2556dup (p.=)
c.*124+2355dup (p.=)
c.*2926dup (p.=)
c.2673dup (p.Leu892IlefsTer3)
c.483dup (p.Leu162IlefsTer3)
c.3396dup (p.Leu1133IlefsTer3)
ClinVar dbSNP
2g.47805640A=CA2496053483MSH6c.3579A= (p.Glu1193=)
c.3189A= (p.Glu1063=)
c.3282A= (p.Glu1094=)
c.169+2555T= (p.=)
c.*124+2354T= (p.=)
c.*2926A= (p.=)
c.2673A= (p.Glu891=)
c.483A= (p.Glu161=)
c.3396A= (p.Glu1132=)
2g.47805640A>CCA346760509MSH6c.3579A>C (p.Glu1193Asp)
c.3189A>C (p.Glu1063Asp)
c.3282A>C (p.Glu1094Asp)
c.169+2555T>G (p.=)
c.*124+2354T>G (p.=)
c.*2926A>C (p.=)
c.2673A>C (p.Glu891Asp)
c.483A>C (p.Glu161Asp)
c.3396A>C (p.Glu1132Asp)
2g.47805640A>GCA16610942MSH6c.3579A>G (p.Glu1193=)
c.3189A>G (p.Glu1063=)
c.3282A>G (p.Glu1094=)
c.169+2555T>C (p.=)
c.*124+2354T>C (p.=)
c.*2926A>G (p.=)
c.2673A>G (p.Glu891=)
c.483A>G (p.Glu161=)
c.3396A>G (p.Glu1132=)
ClinVar gnomAD
2g.47805640A>TCA346760510MSH6c.3579A>T (p.Glu1193Asp)
c.3189A>T (p.Glu1063Asp)
c.3282A>T (p.Glu1094Asp)
c.169+2555T>A (p.=)
c.*124+2354T>A (p.=)
c.*2926A>T (p.=)
c.2673A>T (p.Glu891Asp)
c.483A>T (p.Glu161Asp)
c.3396A>T (p.Glu1132Asp)
2g.47805641T>ACA346760511MSH6c.3580T>A (p.Leu1194Ile)
c.3190T>A (p.Leu1064Ile)
c.3283T>A (p.Leu1095Ile)
c.169+2554A>T (p.=)
c.*124+2353A>T (p.=)
c.*2927T>A (p.=)
c.2674T>A (p.Leu892Ile)
c.484T>A (p.Leu162Ile)
c.3397T>A (p.Leu1133Ile)
2g.47805641T>CCA425997269MSH6c.3580T>C (p.Leu1194=)
c.3190T>C (p.Leu1064=)
c.3283T>C (p.Leu1095=)
c.169+2554A>G (p.=)
c.*124+2353A>G (p.=)
c.*2927T>C (p.=)
c.2674T>C (p.Leu892=)
c.484T>C (p.Leu162=)
c.3397T>C (p.Leu1133=)
ClinVar
2g.47805641T>GCA346760512MSH6c.3580T>G (p.Leu1194Val)
c.3190T>G (p.Leu1064Val)
c.3283T>G (p.Leu1095Val)
c.169+2554A>C (p.=)
c.*124+2353A>C (p.=)
c.*2927T>G (p.=)
c.2674T>G (p.Leu892Val)
c.484T>G (p.Leu162Val)
c.3397T>G (p.Leu1133Val)
2g.47805641T=CA2496053484MSH6c.3580T= (p.Leu1194=)
c.3190T= (p.Leu1064=)
c.3283T= (p.Leu1095=)
c.169+2554A= (p.=)
c.*124+2353A= (p.=)
c.*2927T= (p.=)
c.2674T= (p.Leu892=)
c.484T= (p.Leu162=)
c.3397T= (p.Leu1133=)
2g.47805642dupCA46717427MSH6c.3581dup (p.Leu1194PhefsTer3)
c.3191dup (p.Leu1064PhefsTer3)
c.3284dup (p.Leu1095PhefsTer3)
c.169+2554dup (p.=)
c.*124+2353dup (p.=)
c.*2928dup (p.=)
c.2675dup (p.Leu892PhefsTer3)
c.485dup (p.Leu162PhefsTer3)
c.3398dup (p.Leu1133PhefsTer3)
dbSNP COSMIC
2g.47805642T>ACA346760513MSH6c.3581T>A (p.Leu1194Ter)
c.3191T>A (p.Leu1064Ter)
c.3284T>A (p.Leu1095Ter)
c.169+2553A>T (p.=)
c.*124+2352A>T (p.=)
c.*2928T>A (p.=)
c.2675T>A (p.Leu892Ter)
c.485T>A (p.Leu162Ter)
c.3398T>A (p.Leu1133Ter)
2g.47805642T>CCA346760514MSH6c.3581T>C (p.Leu1194Ser)
c.3191T>C (p.Leu1064Ser)
c.3284T>C (p.Leu1095Ser)
c.169+2553A>G (p.=)
c.*124+2352A>G (p.=)
c.*2928T>C (p.=)
c.2675T>C (p.Leu892Ser)
c.485T>C (p.Leu162Ser)
c.3398T>C (p.Leu1133Ser)
2g.47805642T>GCA346760515MSH6c.3581T>G (p.Leu1194Ter)
c.3191T>G (p.Leu1064Ter)
c.3284T>G (p.Leu1095Ter)
c.169+2553A>C (p.=)
c.*124+2352A>C (p.=)
c.*2928T>G (p.=)
c.2675T>G (p.Leu892Ter)
c.485T>G (p.Leu162Ter)
c.3398T>G (p.Leu1133Ter)
2g.47805643A>CCA346760516MSH6c.3582A>C (p.Leu1194Phe)
c.3192A>C (p.Leu1064Phe)
c.3285A>C (p.Leu1095Phe)
c.169+2552T>G (p.=)
c.*124+2351T>G (p.=)
c.*2929A>C (p.=)
c.2676A>C (p.Leu892Phe)
c.486A>C (p.Leu162Phe)
c.3399A>C (p.Leu1133Phe)
2g.47805643A>GCA425997270MSH6c.3582A>G (p.Leu1194=)
c.3192A>G (p.Leu1064=)
c.3285A>G (p.Leu1095=)
c.169+2552T>C (p.=)
c.*124+2351T>C (p.=)
c.*2929A>G (p.=)
c.2676A>G (p.Leu892=)
c.486A>G (p.Leu162=)
c.3399A>G (p.Leu1133=)
2g.47805643A>TCA346760517MSH6c.3582A>T (p.Leu1194Phe)
c.3192A>T (p.Leu1064Phe)
c.3285A>T (p.Leu1095Phe)
c.169+2552T>A (p.=)
c.*124+2351T>A (p.=)
c.*2929A>T (p.=)
c.2676A>T (p.Leu892Phe)
c.486A>T (p.Leu162Phe)
c.3399A>T (p.Leu1133Phe)
2g.47805643_47805644insTCA425997271MSH6c.3582_3583insT (p.Ser1195Ter)
c.3192_3193insT (p.Ser1065Ter)
c.3285_3286insT (p.Ser1096Ter)
c.169+2551_169+2552insA (p.=)
c.*124+2350_*124+2351insA (p.=)
c.*2929_*2930insT (p.=)
c.2676_2677insT (p.Ser893Ter)
c.486_487insT (p.Ser163Ter)
c.3399_3400insT (p.Ser1134Ter)
2g.47805644A>CCA346760518MSH6c.3583A>C (p.Ser1195Arg)
c.3193A>C (p.Ser1065Arg)
c.3286A>C (p.Ser1096Arg)
c.169+2551T>G (p.=)
c.*124+2350T>G (p.=)
c.*2930A>C (p.=)
c.2677A>C (p.Ser893Arg)
c.487A>C (p.Ser163Arg)
c.3400A>C (p.Ser1134Arg)
2g.47805644A>GCA346760519MSH6c.3583A>G (p.Ser1195Gly)
c.3193A>G (p.Ser1065Gly)
c.3286A>G (p.Ser1096Gly)
c.169+2551T>C (p.=)
c.*124+2350T>C (p.=)
c.*2930A>G (p.=)
c.2677A>G (p.Ser893Gly)
c.487A>G (p.Ser163Gly)
c.3400A>G (p.Ser1134Gly)
2g.47805644A>TCA346760520MSH6c.3583A>T (p.Ser1195Cys)
c.3193A>T (p.Ser1065Cys)
c.3286A>T (p.Ser1096Cys)
c.169+2551T>A (p.=)
c.*124+2350T>A (p.=)
c.*2930A>T (p.=)
c.2677A>T (p.Ser893Cys)
c.487A>T (p.Ser163Cys)
c.3400A>T (p.Ser1134Cys)
2g.47805645G>ACA346760521MSH6c.3584G>A (p.Ser1195Asn)
c.3194G>A (p.Ser1065Asn)
c.3287G>A (p.Ser1096Asn)
c.169+2550C>T (p.=)
c.*124+2349C>T (p.=)
c.*2931G>A (p.=)
c.2678G>A (p.Ser893Asn)
c.488G>A (p.Ser163Asn)
c.3401G>A (p.Ser1134Asn)
2g.47805645G>CCA071428MSH6c.3584G>C (p.Ser1195Thr)
c.3194G>C (p.Ser1065Thr)
c.3287G>C (p.Ser1096Thr)
c.169+2550C>G (p.=)
c.*124+2349C>G (p.=)
c.*2931G>C (p.=)
c.2678G>C (p.Ser893Thr)
c.488G>C (p.Ser163Thr)
c.3401G>C (p.Ser1134Thr)
ClinVar dbSNP ExAC gnomAD
2g.47805645G=CA2496053485MSH6c.3584G= (p.Ser1195=)
c.3194G= (p.Ser1065=)
c.3287G= (p.Ser1096=)
c.169+2550C= (p.=)
c.*124+2349C= (p.=)
c.*2931G= (p.=)
c.2678G= (p.Ser893=)
c.488G= (p.Ser163=)
c.3401G= (p.Ser1134=)
2g.47805645G>TCA346760522MSH6c.3584G>T (p.Ser1195Ile)
c.3194G>T (p.Ser1065Ile)
c.3287G>T (p.Ser1096Ile)
c.169+2550C>A (p.=)
c.*124+2349C>A (p.=)
c.*2931G>T (p.=)
c.2678G>T (p.Ser893Ile)
c.488G>T (p.Ser163Ile)
c.3401G>T (p.Ser1134Ile)
2g.47805646T>ACA346760523MSH6c.3585T>A (p.Ser1195Arg)
c.3195T>A (p.Ser1065Arg)
c.3288T>A (p.Ser1096Arg)
c.169+2549A>T (p.=)
c.*124+2348A>T (p.=)
c.*2932T>A (p.=)
c.2679T>A (p.Ser893Arg)
c.489T>A (p.Ser163Arg)
c.3402T>A (p.Ser1134Arg)
2g.47805646T>CCA425997272MSH6c.3585T>C (p.Ser1195=)
c.3195T>C (p.Ser1065=)
c.3288T>C (p.Ser1096=)
c.169+2549A>G (p.=)
c.*124+2348A>G (p.=)
c.*2932T>C (p.=)
c.2679T>C (p.Ser893=)
c.489T>C (p.Ser163=)
c.3402T>C (p.Ser1134=)
2g.47805646T>GCA346760524MSH6c.3585T>G (p.Ser1195Arg)
c.3195T>G (p.Ser1065Arg)
c.3288T>G (p.Ser1096Arg)
c.169+2549A>C (p.=)
c.*124+2348A>C (p.=)
c.*2932T>G (p.=)
c.2679T>G (p.Ser893Arg)
c.489T>G (p.Ser163Arg)
c.3402T>G (p.Ser1134Arg)
ClinVar
2g.47805646T=CA2496053486MSH6c.3585T= (p.Ser1195=)
c.3195T= (p.Ser1065=)
c.3288T= (p.Ser1096=)
c.169+2549A= (p.=)
c.*124+2348A= (p.=)
c.*2932T= (p.=)
c.2679T= (p.Ser893=)
c.489T= (p.Ser163=)
c.3402T= (p.Ser1134=)
2g.47805647G>ACA46717430MSH6c.3586G>A (p.Glu1196Lys)
c.3196G>A (p.Glu1066Lys)
c.3289G>A (p.Glu1097Lys)
c.169+2548C>T (p.=)
c.*124+2347C>T (p.=)
c.*2933G>A (p.=)
c.2680G>A (p.Glu894Lys)
c.490G>A (p.Glu164Lys)
c.3403G>A (p.Glu1135Lys)
ClinVar dbSNP
2g.47805647G>CCA071434MSH6c.3586G>C (p.Glu1196Gln)
c.3196G>C (p.Glu1066Gln)
c.3289G>C (p.Glu1097Gln)
c.169+2548C>G (p.=)
c.*124+2347C>G (p.=)
c.*2933G>C (p.=)
c.2680G>C (p.Glu894Gln)
c.490G>C (p.Glu164Gln)
c.3403G>C (p.Glu1135Gln)
ClinVar dbSNP ExAC gnomAD
2g.47805647G=CA2496053487MSH6c.3586G= (p.Glu1196=)
c.3196G= (p.Glu1066=)
c.3289G= (p.Glu1097=)
c.169+2548C= (p.=)
c.*124+2347C= (p.=)
c.*2933G= (p.=)
c.2680G= (p.Glu894=)
c.490G= (p.Glu164=)
c.3403G= (p.Glu1135=)
2g.47805647G>TCA346760525MSH6c.3586G>T (p.Glu1196Ter)
c.3196G>T (p.Glu1066Ter)
c.3289G>T (p.Glu1097Ter)
c.169+2548C>A (p.=)
c.*124+2347C>A (p.=)
c.*2933G>T (p.=)
c.2680G>T (p.Glu894Ter)
c.490G>T (p.Glu164Ter)
c.3403G>T (p.Glu1135Ter)
ClinVar COSMIC
2g.47805648A=CA2496053488MSH6c.3587A= (p.Glu1196=)
c.3197A= (p.Glu1066=)
c.3290A= (p.Glu1097=)
c.169+2547T= (p.=)
c.*124+2346T= (p.=)
c.*2934A= (p.=)
c.2681A= (p.Glu894=)
c.491A= (p.Glu164=)
c.3404A= (p.Glu1135=)
2g.47805648A>CCA346760526MSH6c.3587A>C (p.Glu1196Ala)
c.3197A>C (p.Glu1066Ala)
c.3290A>C (p.Glu1097Ala)
c.169+2547T>G (p.=)
c.*124+2346T>G (p.=)
c.*2934A>C (p.=)
c.2681A>C (p.Glu894Ala)
c.491A>C (p.Glu164Ala)
c.3404A>C (p.Glu1135Ala)
2g.47805648A>GCA346760528MSH6c.3587A>G (p.Glu1196Gly)
c.3197A>G (p.Glu1066Gly)
c.3290A>G (p.Glu1097Gly)
c.169+2547T>C (p.=)
c.*124+2346T>C (p.=)
c.*2934A>G (p.=)
c.2681A>G (p.Glu894Gly)
c.491A>G (p.Glu164Gly)
c.3404A>G (p.Glu1135Gly)
2g.47805648A>TCA346760527MSH6c.3587A>T (p.Glu1196Val)
c.3197A>T (p.Glu1066Val)
c.3290A>T (p.Glu1097Val)
c.169+2547T>A (p.=)
c.*124+2346T>A (p.=)
c.*2934A>T (p.=)
c.2681A>T (p.Glu894Val)
c.491A>T (p.Glu164Val)
c.3404A>T (p.Glu1135Val)
ClinVar

Number of alleles fetched