Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.5995581_5995584del | CA013048 | PMS2 | c.*300-3519_*300-3516del (n.*300-3519_*300-3516del) c.858_861del (p.Arg286SerfsTer19) c.753_756del (p.Arg251SerfsTer19) c.861_864del (p.Arg287SerfsTer19) c.*455_*458del (n.*455_*458del) c.*202+1750_*202+1753del (n.*202+1750_*202+1753del) c.706-3519_706-3516del (n.706-3519_706-3516del) c.*260_*263del (n.*260_*263del) c.*448_*451del (n.*448_*451del) c.*118_*121del (n.*118_*121del) n.933_936del c.543_546del (p.Arg181SerfsTer19) c.456_459del (p.Arg152SerfsTer19) c.288_291del (p.Arg96SerfsTer19) c.485+1750_485+1753del (n.485+1750_485+1753del) n.974_977del c.527-3519_527-3516del c.*305-972_*305-969del (n.*305-972_*305-969del) c.*60+1750_*60+1753del (n.*60+1750_*60+1753del) c.*313_*316del (n.*313_*316del) c.*364_*367del (n.*364_*367del) c.693_696del (p.Arg231SerfsTer19) c.*362_*365del (n.*362_*365del) n.2633_2636del c.*761_*764del (n.*761_*764del) c.1047_1050del (p.Arg349SerfsTer19) c.*310_*313del (n.*310_*313del) c.*497_*500del (n.*497_*500del) c.*162_*165del (n.*162_*165del) n.972_975del c.803+1750_803+1753del (n.803+1750_803+1753del) n.883+1750_883+1753del c.763_766del (p.Thr255PhefsTer?) n.861_864del n.62+10417_62+10420del n.943_946del c.855_858del (p.Arg285SerfsTer19) c.906_909del (p.Arg302SerfsTer19) c.-73_-70del (n.-73_-70del) c.552_555del (p.Arg184SerfsTer19) n.948_951del c.-31+1750_-31+1753del (n.-31+1750_-31+1753del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5995577_5995584del | CA013006 | PMS2 | c.*300-3523_*300-3516del (n.*300-3523_*300-3516del) c.854_861del (p.Asp285ValfsTer10) c.749_756del (p.Asp250ValfsTer10) c.857_864del (p.Asp286ValfsTer10) c.*451_*458del (n.*451_*458del) c.*202+1746_*202+1753del (n.*202+1746_*202+1753del) c.706-3523_706-3516del (n.706-3523_706-3516del) c.*256_*263del (n.*256_*263del) c.*444_*451del (n.*444_*451del) c.*114_*121del (n.*114_*121del) n.929_936del c.539_546del (p.Asp180ValfsTer10) c.452_459del (p.Asp151ValfsTer10) c.284_291del (p.Asp95ValfsTer10) c.485+1746_485+1753del (n.485+1746_485+1753del) n.970_977del c.527-3523_527-3516del c.*305-976_*305-969del (n.*305-976_*305-969del) c.*60+1746_*60+1753del (n.*60+1746_*60+1753del) c.*309_*316del (n.*309_*316del) c.*360_*367del (n.*360_*367del) c.689_696del (p.Asp230ValfsTer10) c.*358_*365del (n.*358_*365del) n.2629_2636del c.*757_*764del (n.*757_*764del) c.1043_1050del (p.Asp348ValfsTer10) c.*306_*313del (n.*306_*313del) c.*493_*500del (n.*493_*500del) c.*158_*165del (n.*158_*165del) n.968_975del c.803+1746_803+1753del (n.803+1746_803+1753del) n.883+1746_883+1753del c.759_766del (p.Arg253SerfsTer19) n.857_864del n.62+10413_62+10420del n.939_946del c.851_858del (p.Asp284ValfsTer10) c.902_909del (p.Asp301ValfsTer10) c.-77_-70del (n.-77_-70del) c.548_555del (p.Asp183ValfsTer10) n.944_951del c.-31+1746_-31+1753del (n.-31+1746_-31+1753del) | dbSNP |