Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Asn84IlefsTer6 (p.N84Ifs*6)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Glu101_Val102del (p.E101_V102del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln130ValfsTer2 (p.Q130Vfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu191del (p.L191del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg227LysfsTer18 (p.R227Kfs*18) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Lys229SerfsTer2 (p.K229Sfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Lys249ArgfsTer5 (p.K249Rfs*5) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn311ThrfsTer20 (p.N311Tfs*20) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Cys404ValfsTer8 (p.C404Vfs*8) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln409ArgfsTer7 (p.Q409Rfs*7) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn486ThrfsTer10 (p.N486Tfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn566IlefsTer24 (p.N566Ifs*24) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu569IlefsTer2 (p.E569Ifs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val582SerfsTer8 (p.V582Sfs*8) ( ENST00000406134.5, ENST00000543555.6, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn596del (p.N596del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val598GlyfsTer2 (p.V598Gfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.His639LeufsTer45 (p.H639Lfs*45) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn835LeufsTer4 (p.N835Lfs*4) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ile883LeufsTer9 (p.I883Lfs*9) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn84IlefsTer6 (p.N84Ifs*6) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu101_Val102del (p.E101_V102del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln130ValfsTer2 (p.Q130Vfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu191del (p.L191del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg227LysfsTer18 (p.R227Kfs*18) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Lys229SerfsTer2 (p.K229Sfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Lys249ArgfsTer5 (p.K249Rfs*5) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn311ThrfsTer20 (p.N311Tfs*20) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Cys404ValfsTer8 (p.C404Vfs*8) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln409ArgfsTer7 (p.Q409Rfs*7) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Asn486ThrfsTer10 (p.N486Tfs*10) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn566IlefsTer24 (p.N566Ifs*24) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Glu569IlefsTer2 (p.E569Ifs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val582SerfsTer8 (p.V582Sfs*8) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn596del (p.N596del) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Val598GlyfsTer2 (p.V598Gfs*2) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.His639LeufsTer45 (p.H639Lfs*45) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Asn835LeufsTer4 (p.N835Lfs*4) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ile883LeufsTer9 (p.I883Lfs*9) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Ala2Thr (p.A2T) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln24Ter (p.Q24*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gly71Arg (p.G71R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln97Ter (p.Q97*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu198Lys (p.E198K) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu198Ter (p.E198*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.792+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu277Ter (p.L277*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gly287Ter (p.G287*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu290Ter (p.E290*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+2T>G ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+3A>T ( ENST00000543555.6, ENST00000233146.7, ENST00000406134.5, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Pro349Ala (p.P349A) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Lys (p.R359K) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Thr (p.R359T) ( ENST00000233146.7, ENST00000543555.6, ENST00000406134.5, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Ile (p.R359I) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.1076+1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.1076+1G>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln374Ter (p.Q374*) ( ENST00000406134.5, ENST00000543555.6, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg389Ter (p.R389*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg406Ter (p.R406*) ( ENST00000543555.6, ENST00000406134.5, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln451Ter (p.Q451*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu458Ter (p.L458*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu481Ter (p.L481*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu481Ter (p.L481*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gln493Ter (p.Q493*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Lys509Ter (p.K509*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524His (p.R524H) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Pro (p.R524P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Leu (p.R524L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.1759+2T>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.1759+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu595Arg (p.L595R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg680Gly (p.R680G) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg680Ter (p.R680*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly683Arg (p.G683R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly683Trp (p.G683W) ( ENST00000543555.6, ENST00000406134.5, ENST00000233146.7, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu687Pro (p.L687P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg711Ter (p.R711*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Cys778Ter (p.C778*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Ala2Thr (p.A2T) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln24Ter (p.Q24*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gly71Arg (p.G71R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln97Ter (p.Q97*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu198Lys (p.E198K) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu198Ter (p.E198*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.792+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu277Ter (p.L277*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gly287Ter (p.G287*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Glu290Ter (p.E290*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+2T>G ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.942+3A>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Pro349Ala (p.P349A) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Lys (p.R359K) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Thr (p.R359T) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg359Ile (p.R359I) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.1076+1G>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 c.1076+1G>T ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln374Ter (p.Q374*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg389Ter (p.R389*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Arg406Ter (p.R406*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Gln451Ter (p.Q451*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu458Ter (p.L458*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.Leu481Ter (p.L481*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu481Ter (p.L481*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gln493Ter (p.Q493*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Lys509Ter (p.K509*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524His (p.R524H) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Pro (p.R524P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg524Leu (p.R524L) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.1759+2T>A ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 c.1759+2T>C ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu595Arg (p.L595R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg680Gly (p.R680G) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg680Ter (p.R680*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly683Arg (p.G683R) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Gly683Trp (p.G683W) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Leu687Pro (p.L687P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Arg711Ter (p.R711*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Cys778Ter (p.C778*) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH2 p.Pro5AlafsTer77 (p.P5Afs*77)
MSH2 p.Phe42SerfsTer41 (p.F42Sfs*41)
MSH2 p.Gln288ThrfsTer3 (p.Q288Tfs*3)
MSH2 p.Ala305GlyfsTer7 (p.A305Gfs*7)
MSH2 p.Leu376PhefsTer37 (p.L376Ffs*37)
MSH2 p.Asp386GlufsTer3 (p.D386Efs*3)
MSH2 p.Leu602AlafsTer42 (p.L602Afs*42)
MSH2 p.Pro5AlafsTer77 (p.P5Afs*77)
MSH2 p.Phe42SerfsTer41 (p.F42Sfs*41)
MSH2 p.Gln288ThrfsTer3 (p.Q288Tfs*3)
MSH2 p.Ala305GlyfsTer7 (p.A305Gfs*7)
MSH2 p.Leu376PhefsTer37 (p.L376Ffs*37)
MSH2 p.Asp386GlufsTer3 (p.D386Efs*3)
MSH2 p.Leu602AlafsTer42 (p.L602Afs*42) - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.121357209360402
- Year of publication
- NA
Drugs