| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5997377_5997378del | CA16618523 | PMS2 | c.*299+1735_*299+1736del (n.*299+1735_*299+1736del) c.753_754del (p.Cys251Ter) c.648_649del (p.Cys216Ter) c.756_757del (p.Cys252Ter) c.*350_*351del (n.*350_*351del) c.*155_*156del (n.*155_*156del) c.705+1735_705+1736del (n.705+1735_705+1736del) c.*343_*344del (n.*343_*344del) c.*13_*14del (n.*13_*14del) n.828_829del c.438_439del (p.Cys146Ter) c.351_352del (p.Cys117Ter) c.183_184del (p.Cys61Ter) n.869_870del c.526+1735_526+1736del c.*257_*258del (n.*257_*258del) c.*208_*209del (n.*208_*209del) c.*259_*260del (n.*259_*260del) c.588_589del (p.Cys196Ter) n.668_669del n.1039_1040del n.836_837del c.*656_*657del (n.*656_*657del) c.942_943del (p.Cys314Ter) c.*205_*206del (n.*205_*206del) c.*392_*393del (n.*392_*393del) c.*104+1735_*104+1736del (n.*104+1735_*104+1736del) n.867_868del n.756_757del n.62+8620_62+8621del n.838_839del c.750_751del (p.Cys250Ter) c.801_802del (p.Cys267Ter) c.-178_-177del (n.-178_-177del) c.447_448del (p.Cys149Ter) n.843_844del c.-78_-77del (n.-78_-77del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5997377_5997378dup | CA2580615846 | PMS2 | c.*299+1735_*299+1736dup (n.*299+1735_*299+1736dup) c.753_754dup (p.Glu252ValfsTer6) c.648_649dup (p.Glu217ValfsTer6) c.756_757dup (p.Glu253ValfsTer6) c.*350_*351dup (n.*350_*351dup) c.*155_*156dup (n.*155_*156dup) c.705+1735_705+1736dup (n.705+1735_705+1736dup) c.*343_*344dup (n.*343_*344dup) c.*13_*14dup (n.*13_*14dup) n.828_829dup c.438_439dup (p.Glu147ValfsTer6) c.351_352dup (p.Glu118ValfsTer6) c.183_184dup (p.Glu62ValfsTer6) n.869_870dup c.526+1735_526+1736dup c.*257_*258dup (n.*257_*258dup) c.*208_*209dup (n.*208_*209dup) c.*259_*260dup (n.*259_*260dup) c.588_589dup (p.Glu197ValfsTer6) n.668_669dup n.1039_1040dup n.836_837dup c.*656_*657dup (n.*656_*657dup) c.942_943dup (p.Glu315ValfsTer6) c.*205_*206dup (n.*205_*206dup) c.*392_*393dup (n.*392_*393dup) c.*104+1735_*104+1736dup (n.*104+1735_*104+1736dup) n.867_868dup n.756_757dup n.62+8620_62+8621dup n.838_839dup c.750_751dup (p.Glu251ValfsTer6) c.801_802dup (p.Glu268ValfsTer6) c.-178_-177dup (n.-178_-177dup) c.447_448dup (p.Glu150ValfsTer6) n.843_844dup c.-78_-77dup (n.-78_-77dup) | ClinVar dbSNP |