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.47799016_47799017delCA2586969266FBXO11,MSH6c.736_737del (p.Asn246PhefsTer2)
c.1033_1034del (p.Asn345PhefsTer2)
n.1117_1118del
c.1039_1040del (p.Asn347PhefsTer2)
c.627+2953_627+2954del (n.627+2953_627+2954del)
c.190_191del (p.Asn64PhefsTer2)
c.643_644del (p.Asn215PhefsTer2)
c.169+9180_169+9181del (n.169+9180_169+9181del)
c.*124+8979_*124+8980del (n.*124+8979_*124+8980del)
c.*380_*381del (n.*380_*381del)
c.127_128del (p.Asn43PhefsTer2)
c.1030_1031del (p.Asn344PhefsTer2)
c.-2064_-2063del (n.-2064_-2063del)
c.850_851del (p.Asn284PhefsTer2)
2g.47799017A=CA2496048354FBXO11,MSH6c.737A= (p.Asn246=)
c.1034A= (p.Asn345=)
n.1118A=
c.1040A= (p.Asn347=)
c.627+2954A= (n.627+2954A=)
c.191A= (p.Asn64=)
c.644A= (p.Asn215=)
c.169+9178T= (n.169+9178T=)
c.*124+8977T= (n.*124+8977T=)
c.*381A= (n.*381A=)
c.128A= (p.Asn43=)
c.1031A= (p.Asn344=)
c.-2063A= (n.-2063A=)
c.851A= (p.Asn284=)
2g.47799017A>CCA346741424FBXO11,MSH6c.737A>C (p.Asn246Thr)
c.1034A>C (p.Asn345Thr)
n.1118A>C
c.1040A>C (p.Asn347Thr)
c.627+2954A>C (n.627+2954A>C)
c.191A>C (p.Asn64Thr)
c.644A>C (p.Asn215Thr)
c.169+9178T>G (n.169+9178T>G)
c.*124+8977T>G (n.*124+8977T>G)
c.*381A>C (n.*381A>C)
c.128A>C (p.Asn43Thr)
c.1031A>C (p.Asn344Thr)
c.-2063A>C (n.-2063A>C)
c.851A>C (p.Asn284Thr)
 dbSNP
2g.47799017A>GCA348227FBXO11,MSH6c.737A>G (p.Asn246Ser)
c.1034A>G (p.Asn345Ser)
n.1118A>G
c.1040A>G (p.Asn347Ser)
c.627+2954A>G (n.627+2954A>G)
c.191A>G (p.Asn64Ser)
c.644A>G (p.Asn215Ser)
c.169+9178T>C (n.169+9178T>C)
c.*124+8977T>C (n.*124+8977T>C)
c.*381A>G (n.*381A>G)
c.128A>G (p.Asn43Ser)
c.1031A>G (p.Asn344Ser)
c.-2063A>G (n.-2063A>G)
c.851A>G (p.Asn284Ser)
 ClinVar dbSNP
2g.47799017A>TCA346741426FBXO11,MSH6c.737A>T (p.Asn246Ile)
c.1034A>T (p.Asn345Ile)
n.1118A>T
c.1040A>T (p.Asn347Ile)
c.627+2954A>T (n.627+2954A>T)
c.191A>T (p.Asn64Ile)
c.644A>T (p.Asn215Ile)
c.169+9178T>A (n.169+9178T>A)
c.*124+8977T>A (n.*124+8977T>A)
c.*381A>T (n.*381A>T)
c.128A>T (p.Asn43Ile)
c.1031A>T (p.Asn344Ile)
c.-2063A>T (n.-2063A>T)
c.851A>T (p.Asn284Ile)
 dbSNP
2g.47799018T>ACA067060FBXO11,MSH6c.738T>A (p.Asn246Lys)
c.1035T>A (p.Asn345Lys)
n.1119T>A
c.1041T>A (p.Asn347Lys)
c.627+2955T>A (n.627+2955T>A)
c.192T>A (p.Asn64Lys)
c.645T>A (p.Asn215Lys)
c.169+9177A>T (n.169+9177A>T)
c.*124+8976A>T (n.*124+8976A>T)
c.*382T>A (n.*382T>A)
c.129T>A (p.Asn43Lys)
c.1032T>A (p.Asn344Lys)
c.-2062T>A (n.-2062T>A)
c.852T>A (p.Asn284Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47799018T>CCA10578056FBXO11,MSH6c.738T>C (p.Asn246=)
c.1035T>C (p.Asn345=)
n.1119T>C
c.1041T>C (p.Asn347=)
c.627+2955T>C (n.627+2955T>C)
c.192T>C (p.Asn64=)
c.645T>C (p.Asn215=)
c.169+9177A>G (n.169+9177A>G)
c.*124+8976A>G (n.*124+8976A>G)
c.*382T>C (n.*382T>C)
c.129T>C (p.Asn43=)
c.1032T>C (p.Asn344=)
c.-2062T>C (n.-2062T>C)
c.852T>C (p.Asn284=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47799018T>GCA346741429FBXO11,MSH6c.738T>G (p.Asn246Lys)
c.1035T>G (p.Asn345Lys)
n.1119T>G
c.1041T>G (p.Asn347Lys)
c.627+2955T>G (n.627+2955T>G)
c.192T>G (p.Asn64Lys)
c.645T>G (p.Asn215Lys)
c.169+9177A>C (n.169+9177A>C)
c.*124+8976A>C (n.*124+8976A>C)
c.*382T>G (n.*382T>G)
c.129T>G (p.Asn43Lys)
c.1032T>G (p.Asn344Lys)
c.-2062T>G (n.-2062T>G)
c.852T>G (p.Asn284Lys)
 ClinVar dbSNP
2g.47799018T=CA2496048355FBXO11,MSH6c.738T= (p.Asn246=)
c.1035T= (p.Asn345=)
n.1119T=
c.1041T= (p.Asn347=)
c.627+2955T= (n.627+2955T=)
c.192T= (p.Asn64=)
c.645T= (p.Asn215=)
c.169+9177A= (n.169+9177A=)
c.*124+8976A= (n.*124+8976A=)
c.*382T= (n.*382T=)
c.129T= (p.Asn43=)
c.1032T= (p.Asn344=)
c.-2062T= (n.-2062T=)
c.852T= (p.Asn284=)
2g.47799019T>ACA346741433FBXO11,MSH6c.739T>A (p.Ser247Thr)
c.1036T>A (p.Ser346Thr)
n.1120T>A
c.1042T>A (p.Ser348Thr)
c.627+2956T>A (n.627+2956T>A)
c.193T>A (p.Ser65Thr)
c.646T>A (p.Ser216Thr)
c.169+9176A>T (n.169+9176A>T)
c.*124+8975A>T (n.*124+8975A>T)
c.*383T>A (n.*383T>A)
c.130T>A (p.Ser44Thr)
c.1033T>A (p.Ser345Thr)
c.-2061T>A (n.-2061T>A)
c.853T>A (p.Ser285Thr)
 dbSNP
2g.47799019T>CCA346741435FBXO11,MSH6c.739T>C (p.Ser247Pro)
c.1036T>C (p.Ser346Pro)
n.1120T>C
c.1042T>C (p.Ser348Pro)
c.627+2956T>C (n.627+2956T>C)
c.193T>C (p.Ser65Pro)
c.646T>C (p.Ser216Pro)
c.169+9176A>G (n.169+9176A>G)
c.*124+8975A>G (n.*124+8975A>G)
c.*383T>C (n.*383T>C)
c.130T>C (p.Ser44Pro)
c.1033T>C (p.Ser345Pro)
c.-2061T>C (n.-2061T>C)
c.853T>C (p.Ser285Pro)
2g.47799019T>GCA346741437FBXO11,MSH6c.739T>G (p.Ser247Ala)
c.1036T>G (p.Ser346Ala)
n.1120T>G
c.1042T>G (p.Ser348Ala)
c.627+2956T>G (n.627+2956T>G)
c.193T>G (p.Ser65Ala)
c.646T>G (p.Ser216Ala)
c.169+9176A>C (n.169+9176A>C)
c.*124+8975A>C (n.*124+8975A>C)
c.*383T>G (n.*383T>G)
c.130T>G (p.Ser44Ala)
c.1033T>G (p.Ser345Ala)
c.-2061T>G (n.-2061T>G)
c.853T>G (p.Ser285Ala)
 dbSNP
2g.47799019_47799020delinsAACA916079912FBXO11,MSH6c.739_740delinsAA (p.Ser247Asn)
c.1036_1037delinsAA (p.Ser346Asn)
n.1120_1121delinsAA
c.1042_1043delinsAA (p.Ser348Asn)
c.627+2956_627+2957delinsAA (n.627+2956_627+2957delinsAA)
c.193_194delinsAA (p.Ser65Asn)
c.646_647delinsAA (p.Ser216Asn)
c.169+9175_169+9176delinsTT (n.169+9175_169+9176delinsTT)
c.*124+8974_*124+8975delinsTT (n.*124+8974_*124+8975delinsTT)
c.*383_*384delinsAA (n.*383_*384delinsAA)
c.130_131delinsAA (p.Ser44Asn)
c.1033_1034delinsAA (p.Ser345Asn)
c.-2061_-2060delinsAA (n.-2061_-2060delinsAA)
c.853_854delinsAA (p.Ser285Asn)
 ClinVar dbSNP
2g.47799019_47799020delinsTCCA2496048356FBXO11,MSH6c.739_740delinsTC (p.Ser247=)
c.1036_1037delinsTC (p.Ser346=)
n.1120_1121delinsTC
c.1042_1043delinsTC (p.Ser348=)
c.627+2956_627+2957delinsTC (n.627+2956_627+2957delinsTC)
c.193_194delinsTC (p.Ser65=)
c.646_647delinsTC (p.Ser216=)
c.169+9175_169+9176delinsGA (n.169+9175_169+9176delinsGA)
c.*124+8974_*124+8975delinsGA (n.*124+8974_*124+8975delinsGA)
c.*383_*384delinsTC (n.*383_*384delinsTC)
c.130_131delinsTC (p.Ser44=)
c.1033_1034delinsTC (p.Ser345=)
c.-2061_-2060delinsTC (n.-2061_-2060delinsTC)
c.853_854delinsTC (p.Ser285=)
2g.47799020C>ACA346741440FBXO11,MSH6c.740C>A (p.Ser247Tyr)
c.1037C>A (p.Ser346Tyr)
n.1121C>A
c.1043C>A (p.Ser348Tyr)
c.627+2957C>A (n.627+2957C>A)
c.194C>A (p.Ser65Tyr)
c.647C>A (p.Ser216Tyr)
c.169+9175G>T (n.169+9175G>T)
c.*124+8974G>T (n.*124+8974G>T)
c.*384C>A (n.*384C>A)
c.131C>A (p.Ser44Tyr)
c.1034C>A (p.Ser345Tyr)
c.-2060C>A (n.-2060C>A)
c.854C>A (p.Ser285Tyr)
 dbSNP COSMIC
2g.47799020C=CA2496048357FBXO11,MSH6c.740C= (p.Ser247=)
c.1037C= (p.Ser346=)
n.1121C=
c.1043C= (p.Ser348=)
c.627+2957C= (n.627+2957C=)
c.194C= (p.Ser65=)
c.647C= (p.Ser216=)
c.169+9175G= (n.169+9175G=)
c.*124+8974G= (n.*124+8974G=)
c.*384C= (n.*384C=)
c.131C= (p.Ser44=)
c.1034C= (p.Ser345=)
c.-2060C= (n.-2060C=)
c.854C= (p.Ser285=)
2g.47799020C>GCA16610875FBXO11,MSH6c.740C>G (p.Ser247Cys)
c.1037C>G (p.Ser346Cys)
n.1121C>G
c.1043C>G (p.Ser348Cys)
c.627+2957C>G (n.627+2957C>G)
c.194C>G (p.Ser65Cys)
c.647C>G (p.Ser216Cys)
c.169+9175G>C (n.169+9175G>C)
c.*124+8974G>C (n.*124+8974G>C)
c.*384C>G (n.*384C>G)
c.131C>G (p.Ser44Cys)
c.1034C>G (p.Ser345Cys)
c.-2060C>G (n.-2060C>G)
c.854C>G (p.Ser285Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47799020C>TCA007847FBXO11,MSH6c.740C>T (p.Ser247Phe)
c.1037C>T (p.Ser346Phe)
n.1121C>T
c.1043C>T (p.Ser348Phe)
c.627+2957C>T (n.627+2957C>T)
c.194C>T (p.Ser65Phe)
c.647C>T (p.Ser216Phe)
c.169+9175G>A (n.169+9175G>A)
c.*124+8974G>A (n.*124+8974G>A)
c.*384C>T (n.*384C>T)
c.131C>T (p.Ser44Phe)
c.1034C>T (p.Ser345Phe)
c.-2060C>T (n.-2060C>T)
c.854C>T (p.Ser285Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47799021T>ACA426120814FBXO11,MSH6c.741T>A (p.Ser247=)
c.1038T>A (p.Ser346=)
n.1122T>A
c.1044T>A (p.Ser348=)
c.627+2958T>A (n.627+2958T>A)
c.195T>A (p.Ser65=)
c.648T>A (p.Ser216=)
c.169+9174A>T (n.169+9174A>T)
c.*124+8973A>T (n.*124+8973A>T)
c.*385T>A (n.*385T>A)
c.132T>A (p.Ser44=)
c.1035T>A (p.Ser345=)
c.-2059T>A (n.-2059T>A)
c.855T>A (p.Ser285=)
 dbSNP
2g.47799021T>CCA426120815FBXO11,MSH6c.741T>C (p.Ser247=)
c.1038T>C (p.Ser346=)
n.1122T>C
c.1044T>C (p.Ser348=)
c.627+2958T>C (n.627+2958T>C)
c.195T>C (p.Ser65=)
c.648T>C (p.Ser216=)
c.169+9174A>G (n.169+9174A>G)
c.*124+8973A>G (n.*124+8973A>G)
c.*385T>C (n.*385T>C)
c.132T>C (p.Ser44=)
c.1035T>C (p.Ser345=)
c.-2059T>C (n.-2059T>C)
c.855T>C (p.Ser285=)
 ClinVar dbSNP
2g.47799021T>GCA426120816FBXO11,MSH6c.741T>G (p.Ser247=)
c.1038T>G (p.Ser346=)
n.1122T>G
c.1044T>G (p.Ser348=)
c.627+2958T>G (n.627+2958T>G)
c.195T>G (p.Ser65=)
c.648T>G (p.Ser216=)
c.169+9174A>C (n.169+9174A>C)
c.*124+8973A>C (n.*124+8973A>C)
c.*385T>G (n.*385T>G)
c.132T>G (p.Ser44=)
c.1035T>G (p.Ser345=)
c.-2059T>G (n.-2059T>G)
c.855T>G (p.Ser285=)
 ClinVar dbSNP
2g.47799021T=CA2496048358FBXO11,MSH6c.741T= (p.Ser247=)
c.1038T= (p.Ser346=)
n.1122T=
c.1044T= (p.Ser348=)
c.627+2958T= (n.627+2958T=)
c.195T= (p.Ser65=)
c.648T= (p.Ser216=)
c.169+9174A= (n.169+9174A=)
c.*124+8973A= (n.*124+8973A=)
c.*385T= (n.*385T=)
c.132T= (p.Ser44=)
c.1035T= (p.Ser345=)
c.-2059T= (n.-2059T=)
c.855T= (p.Ser285=)
2g.47799022G>ACA346741455FBXO11,MSH6c.742G>A (p.Glu248Lys)
c.1039G>A (p.Glu347Lys)
n.1123G>A
c.1045G>A (p.Glu349Lys)
c.627+2959G>A (n.627+2959G>A)
c.196G>A (p.Glu66Lys)
c.649G>A (p.Glu217Lys)
c.169+9173C>T (n.169+9173C>T)
c.*124+8972C>T (n.*124+8972C>T)
c.*386G>A (n.*386G>A)
c.133G>A (p.Glu45Lys)
c.1036G>A (p.Glu346Lys)
c.-2058G>A (n.-2058G>A)
c.856G>A (p.Glu286Lys)
 ClinVar dbSNP
2g.47799022G>CCA346741449FBXO11,MSH6c.742G>C (p.Glu248Gln)
c.1039G>C (p.Glu347Gln)
n.1123G>C
c.1045G>C (p.Glu349Gln)
c.627+2959G>C (n.627+2959G>C)
c.196G>C (p.Glu66Gln)
c.649G>C (p.Glu217Gln)
c.169+9173C>G (n.169+9173C>G)
c.*124+8972C>G (n.*124+8972C>G)
c.*386G>C (n.*386G>C)
c.133G>C (p.Glu45Gln)
c.1036G>C (p.Glu346Gln)
c.-2058G>C (n.-2058G>C)
c.856G>C (p.Glu286Gln)
 dbSNP
2g.47799022G=CA2496048359FBXO11,MSH6c.742G= (p.Glu248=)
c.1039G= (p.Glu347=)
n.1123G=
c.1045G= (p.Glu349=)
c.627+2959G= (n.627+2959G=)
c.196G= (p.Glu66=)
c.649G= (p.Glu217=)
c.169+9173C= (n.169+9173C=)
c.*124+8972C= (n.*124+8972C=)
c.*386G= (n.*386G=)
c.133G= (p.Glu45=)
c.1036G= (p.Glu346=)
c.-2058G= (n.-2058G=)
c.856G= (p.Glu286=)
2g.47799022G>TCA346741451FBXO11,MSH6c.742G>T (p.Glu248Ter)
c.1039G>T (p.Glu347Ter)
n.1123G>T
c.1045G>T (p.Glu349Ter)
c.627+2959G>T (n.627+2959G>T)
c.196G>T (p.Glu66Ter)
c.649G>T (p.Glu217Ter)
c.169+9173C>A (n.169+9173C>A)
c.*124+8972C>A (n.*124+8972C>A)
c.*386G>T (n.*386G>T)
c.133G>T (p.Glu45Ter)
c.1036G>T (p.Glu346Ter)
c.-2058G>T (n.-2058G>T)
c.856G>T (p.Glu286Ter)
 ClinVar dbSNP
2g.47799022_47799023insCCA658795736FBXO11,MSH6c.742_743insC (p.Glu248AlafsTer7)
c.1039_1040insC (p.Glu347AlafsTer7)
n.1123_1124insC
c.1045_1046insC (p.Glu349AlafsTer7)
c.627+2959_627+2960insC (n.627+2959_627+2960insC)
c.196_197insC (p.Glu66AlafsTer7)
c.649_650insC (p.Glu217AlafsTer7)
c.169+9172_169+9173insG (n.169+9172_169+9173insG)
c.*124+8971_*124+8972insG (n.*124+8971_*124+8972insG)
c.*386_*387insC (n.*386_*387insC)
c.133_134insC (p.Glu45AlafsTer7)
c.1036_1037insC (p.Glu346AlafsTer7)
c.-2058_-2057insC (n.-2058_-2057insC)
c.856_857insC (p.Glu286AlafsTer7)
 ClinVar dbSNP
2g.47799023A>CCA346741456FBXO11,MSH6c.743A>C (p.Glu248Ala)
c.1040A>C (p.Glu347Ala)
n.1124A>C
c.1046A>C (p.Glu349Ala)
c.627+2960A>C (n.627+2960A>C)
c.197A>C (p.Glu66Ala)
c.650A>C (p.Glu217Ala)
c.169+9172T>G (n.169+9172T>G)
c.*124+8971T>G (n.*124+8971T>G)
c.*387A>C (n.*387A>C)
c.134A>C (p.Glu45Ala)
c.1037A>C (p.Glu346Ala)
c.-2057A>C (n.-2057A>C)
c.857A>C (p.Glu286Ala)
2g.47799023A>GCA346741457FBXO11,MSH6c.743A>G (p.Glu248Gly)
c.1040A>G (p.Glu347Gly)
n.1124A>G
c.1046A>G (p.Glu349Gly)
c.627+2960A>G (n.627+2960A>G)
c.197A>G (p.Glu66Gly)
c.650A>G (p.Glu217Gly)
c.169+9172T>C (n.169+9172T>C)
c.*124+8971T>C (n.*124+8971T>C)
c.*387A>G (n.*387A>G)
c.134A>G (p.Glu45Gly)
c.1037A>G (p.Glu346Gly)
c.-2057A>G (n.-2057A>G)
c.857A>G (p.Glu286Gly)
 dbSNP
2g.47799023A>TCA346741458FBXO11,MSH6c.743A>T (p.Glu248Val)
c.1040A>T (p.Glu347Val)
n.1124A>T
c.1046A>T (p.Glu349Val)
c.627+2960A>T (n.627+2960A>T)
c.197A>T (p.Glu66Val)
c.650A>T (p.Glu217Val)
c.169+9172T>A (n.169+9172T>A)
c.*124+8971T>A (n.*124+8971T>A)
c.*387A>T (n.*387A>T)
c.134A>T (p.Glu45Val)
c.1037A>T (p.Glu346Val)
c.-2057A>T (n.-2057A>T)
c.857A>T (p.Glu286Val)
 ClinVar dbSNP
2g.47799024A>CCA346741462FBXO11,MSH6c.744A>C (p.Glu248Asp)
c.1041A>C (p.Glu347Asp)
n.1125A>C
c.1047A>C (p.Glu349Asp)
c.627+2961A>C (n.627+2961A>C)
c.198A>C (p.Glu66Asp)
c.651A>C (p.Glu217Asp)
c.169+9171T>G (n.169+9171T>G)
c.*124+8970T>G (n.*124+8970T>G)
c.*388A>C (n.*388A>C)
c.135A>C (p.Glu45Asp)
c.1038A>C (p.Glu346Asp)
c.-2056A>C (n.-2056A>C)
c.858A>C (p.Glu286Asp)
 dbSNP
2g.47799024A>GCA426120823FBXO11,MSH6c.744A>G (p.Glu248=)
c.1041A>G (p.Glu347=)
n.1125A>G
c.1047A>G (p.Glu349=)
c.627+2961A>G (n.627+2961A>G)
c.198A>G (p.Glu66=)
c.651A>G (p.Glu217=)
c.169+9171T>C (n.169+9171T>C)
c.*124+8970T>C (n.*124+8970T>C)
c.*388A>G (n.*388A>G)
c.135A>G (p.Glu45=)
c.1038A>G (p.Glu346=)
c.-2056A>G (n.-2056A>G)
c.858A>G (p.Glu286=)
 dbSNP
2g.47799024A>TCA346741466FBXO11,MSH6c.744A>T (p.Glu248Asp)
c.1041A>T (p.Glu347Asp)
n.1125A>T
c.1047A>T (p.Glu349Asp)
c.627+2961A>T (n.627+2961A>T)
c.198A>T (p.Glu66Asp)
c.651A>T (p.Glu217Asp)
c.169+9171T>A (n.169+9171T>A)
c.*124+8970T>A (n.*124+8970T>A)
c.*388A>T (n.*388A>T)
c.135A>T (p.Glu45Asp)
c.1038A>T (p.Glu346Asp)
c.-2056A>T (n.-2056A>T)
c.858A>T (p.Glu286Asp)
 dbSNP
2g.47799025T>ACA346741470FBXO11,MSH6c.745T>A (p.Ser249Thr)
c.1042T>A (p.Ser348Thr)
n.1126T>A
c.1048T>A (p.Ser350Thr)
c.627+2962T>A (n.627+2962T>A)
c.199T>A (p.Ser67Thr)
c.652T>A (p.Ser218Thr)
c.169+9170A>T (n.169+9170A>T)
c.*124+8969A>T (n.*124+8969A>T)
c.*389T>A (n.*389T>A)
c.136T>A (p.Ser46Thr)
c.1039T>A (p.Ser347Thr)
c.-2055T>A (n.-2055T>A)
c.859T>A (p.Ser287Thr)
2g.47799025T>CCA346741472FBXO11,MSH6c.745T>C (p.Ser249Pro)
c.1042T>C (p.Ser348Pro)
n.1126T>C
c.1048T>C (p.Ser350Pro)
c.627+2962T>C (n.627+2962T>C)
c.199T>C (p.Ser67Pro)
c.652T>C (p.Ser218Pro)
c.169+9170A>G (n.169+9170A>G)
c.*124+8969A>G (n.*124+8969A>G)
c.*389T>C (n.*389T>C)
c.136T>C (p.Ser46Pro)
c.1039T>C (p.Ser347Pro)
c.-2055T>C (n.-2055T>C)
c.859T>C (p.Ser287Pro)
 ClinVar
2g.47799025T>GCA346741474FBXO11,MSH6c.745T>G (p.Ser249Ala)
c.1042T>G (p.Ser348Ala)
n.1126T>G
c.1048T>G (p.Ser350Ala)
c.627+2962T>G (n.627+2962T>G)
c.199T>G (p.Ser67Ala)
c.652T>G (p.Ser218Ala)
c.169+9170A>C (n.169+9170A>C)
c.*124+8969A>C (n.*124+8969A>C)
c.*389T>G (n.*389T>G)
c.136T>G (p.Ser46Ala)
c.1039T>G (p.Ser347Ala)
c.-2055T>G (n.-2055T>G)
c.859T>G (p.Ser287Ala)
2g.47799026C>ACA346741484FBXO11,MSH6c.746C>A (p.Ser249Tyr)
c.1043C>A (p.Ser348Tyr)
n.1127C>A
c.1049C>A (p.Ser350Tyr)
c.627+2963C>A (n.627+2963C>A)
c.200C>A (p.Ser67Tyr)
c.653C>A (p.Ser218Tyr)
c.169+9169G>T (n.169+9169G>T)
c.*124+8968G>T (n.*124+8968G>T)
c.*390C>A (n.*390C>A)
c.137C>A (p.Ser46Tyr)
c.1040C>A (p.Ser347Tyr)
c.-2054C>A (n.-2054C>A)
c.860C>A (p.Ser287Tyr)
 ClinVar dbSNP
2g.47799026C=CA2496048360FBXO11,MSH6c.746C= (p.Ser249=)
c.1043C= (p.Ser348=)
n.1127C=
c.1049C= (p.Ser350=)
c.627+2963C= (n.627+2963C=)
c.200C= (p.Ser67=)
c.653C= (p.Ser218=)
c.169+9169G= (n.169+9169G=)
c.*124+8968G= (n.*124+8968G=)
c.*390C= (n.*390C=)
c.137C= (p.Ser46=)
c.1040C= (p.Ser347=)
c.-2054C= (n.-2054C=)
c.860C= (p.Ser287=)
2g.47799026C>GCA346741486FBXO11,MSH6c.746C>G (p.Ser249Cys)
c.1043C>G (p.Ser348Cys)
n.1127C>G
c.1049C>G (p.Ser350Cys)
c.627+2963C>G (n.627+2963C>G)
c.200C>G (p.Ser67Cys)
c.653C>G (p.Ser218Cys)
c.169+9169G>C (n.169+9169G>C)
c.*124+8968G>C (n.*124+8968G>C)
c.*390C>G (n.*390C>G)
c.137C>G (p.Ser46Cys)
c.1040C>G (p.Ser347Cys)
c.-2054C>G (n.-2054C>G)
c.860C>G (p.Ser287Cys)
2g.47799026C>TCA067068FBXO11,MSH6c.746C>T (p.Ser249Phe)
c.1043C>T (p.Ser348Phe)
n.1127C>T
c.1049C>T (p.Ser350Phe)
c.627+2963C>T (n.627+2963C>T)
c.200C>T (p.Ser67Phe)
c.653C>T (p.Ser218Phe)
c.169+9169G>A (n.169+9169G>A)
c.*124+8968G>A (n.*124+8968G>A)
c.*390C>T (n.*390C>T)
c.137C>T (p.Ser46Phe)
c.1040C>T (p.Ser347Phe)
c.-2054C>T (n.-2054C>T)
c.860C>T (p.Ser287Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47799028dupCA2580067296FBXO11,MSH6c.748dup (p.Gln250ProfsTer5)
c.1045dup (p.Gln349ProfsTer5)
n.1129dup
c.1051dup (p.Gln351ProfsTer5)
c.627+2965dup (n.627+2965dup)
c.202dup (p.Gln68ProfsTer5)
c.655dup (p.Gln219ProfsTer5)
c.169+9169dup (n.169+9169dup)
c.*124+8968dup (n.*124+8968dup)
c.*392dup (n.*392dup)
c.139dup (p.Gln47ProfsTer5)
c.1042dup (p.Gln348ProfsTer5)
c.-2052dup (n.-2052dup)
c.862dup (p.Gln288ProfsTer5)
 ClinVar
2g.47799027C>ACA007856FBXO11,MSH6c.747C>A (p.Ser249=)
c.1044C>A (p.Ser348=)
n.1128C>A
c.1050C>A (p.Ser350=)
c.627+2964C>A (n.627+2964C>A)
c.201C>A (p.Ser67=)
c.654C>A (p.Ser218=)
c.169+9168G>T (n.169+9168G>T)
c.*124+8967G>T (n.*124+8967G>T)
c.*391C>A (n.*391C>A)
c.138C>A (p.Ser46=)
c.1041C>A (p.Ser347=)
c.-2053C>A (n.-2053C>A)
c.861C>A (p.Ser287=)
 ClinVar dbSNP
2g.47799027C=CA2496048361FBXO11,MSH6c.747C= (p.Ser249=)
c.1044C= (p.Ser348=)
n.1128C=
c.1050C= (p.Ser350=)
c.627+2964C= (n.627+2964C=)
c.201C= (p.Ser67=)
c.654C= (p.Ser218=)
c.169+9168G= (n.169+9168G=)
c.*124+8967G= (n.*124+8967G=)
c.*391C= (n.*391C=)
c.138C= (p.Ser46=)
c.1041C= (p.Ser347=)
c.-2053C= (n.-2053C=)
c.861C= (p.Ser287=)
2g.47799027C>GCA426120824FBXO11,MSH6c.747C>G (p.Ser249=)
c.1044C>G (p.Ser348=)
n.1128C>G
c.1050C>G (p.Ser350=)
c.627+2964C>G (n.627+2964C>G)
c.201C>G (p.Ser67=)
c.654C>G (p.Ser218=)
c.169+9168G>C (n.169+9168G>C)
c.*124+8967G>C (n.*124+8967G>C)
c.*391C>G (n.*391C>G)
c.138C>G (p.Ser46=)
c.1041C>G (p.Ser347=)
c.-2053C>G (n.-2053C>G)
c.861C>G (p.Ser287=)
 ClinVar dbSNP
2g.47799027C>TCA426120825FBXO11,MSH6c.747C>T (p.Ser249=)
c.1044C>T (p.Ser348=)
n.1128C>T
c.1050C>T (p.Ser350=)
c.627+2964C>T (n.627+2964C>T)
c.201C>T (p.Ser67=)
c.654C>T (p.Ser218=)
c.169+9168G>A (n.169+9168G>A)
c.*124+8967G>A (n.*124+8967G>A)
c.*391C>T (n.*391C>T)
c.138C>T (p.Ser46=)
c.1041C>T (p.Ser347=)
c.-2053C>T (n.-2053C>T)
c.861C>T (p.Ser287=)
 ClinVar dbSNP gnomAD v4
2g.47799028C>ACA346741494FBXO11,MSH6c.748C>A (p.Gln250Lys)
c.1045C>A (p.Gln349Lys)
n.1129C>A
c.1051C>A (p.Gln351Lys)
c.627+2965C>A (n.627+2965C>A)
c.202C>A (p.Gln68Lys)
c.655C>A (p.Gln219Lys)
c.169+9167G>T (n.169+9167G>T)
c.*124+8966G>T (n.*124+8966G>T)
c.*392C>A (n.*392C>A)
c.139C>A (p.Gln47Lys)
c.1042C>A (p.Gln348Lys)
c.-2052C>A (n.-2052C>A)
c.862C>A (p.Gln288Lys)
 dbSNP gnomAD v4
2g.47799028C=CA2496048362FBXO11,MSH6c.748C= (p.Gln250=)
c.1045C= (p.Gln349=)
n.1129C=
c.1051C= (p.Gln351=)
c.627+2965C= (n.627+2965C=)
c.202C= (p.Gln68=)
c.655C= (p.Gln219=)
c.169+9167G= (n.169+9167G=)
c.*124+8966G= (n.*124+8966G=)
c.*392C= (n.*392C=)
c.139C= (p.Gln47=)
c.1042C= (p.Gln348=)
c.-2052C= (n.-2052C=)
c.862C= (p.Gln288=)
2g.47799028C>GCA346741496FBXO11,MSH6c.748C>G (p.Gln250Glu)
c.1045C>G (p.Gln349Glu)
n.1129C>G
c.1051C>G (p.Gln351Glu)
c.627+2965C>G (n.627+2965C>G)
c.202C>G (p.Gln68Glu)
c.655C>G (p.Gln219Glu)
c.169+9167G>C (n.169+9167G>C)
c.*124+8966G>C (n.*124+8966G>C)
c.*392C>G (n.*392C>G)
c.139C>G (p.Gln47Glu)
c.1042C>G (p.Gln348Glu)
c.-2052C>G (n.-2052C>G)
c.862C>G (p.Gln288Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47799028C>TCA336780FBXO11,MSH6c.748C>T (p.Gln250Ter)
c.1045C>T (p.Gln349Ter)
n.1129C>T
c.1051C>T (p.Gln351Ter)
c.627+2965C>T (n.627+2965C>T)
c.202C>T (p.Gln68Ter)
c.655C>T (p.Gln219Ter)
c.169+9167G>A (n.169+9167G>A)
c.*124+8966G>A (n.*124+8966G>A)
c.*392C>T (n.*392C>T)
c.139C>T (p.Gln47Ter)
c.1042C>T (p.Gln348Ter)
c.-2052C>T (n.-2052C>T)
c.862C>T (p.Gln288Ter)
 ClinVar dbSNP

Number of alleles fetched