| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47791108_47791109del | CA16611100 | FBXO11,MSH6 | c.145_146del (p.Leu49LysfsTer23) c.442_443del (p.Leu148LysfsTer23) n.526_527del n.514_515del c.238-7503_238-7502del (n.238-7503_238-7502del) n.350-7503_350-7502del c.170-1667_170-1666del (n.170-1667_170-1666del) c.*125-1667_*125-1666del (n.*125-1667_*125-1666del) c.442_443del (p.Leu148LysfsTer6) c.261-4786_261-4785del (n.261-4786_261-4785del) c.-461_-460del (n.-461_-460del) c.145_146del (p.Leu49LysfsTer?) c.-295_-294del (n.-295_-294del) c.439_440del (p.Leu147LysfsTer23) c.-2655_-2654del (n.-2655_-2654del) c.259_260del (p.Leu87LysfsTer23) | ClinVar dbSNP |
| 2 | g.47791109dup | CA658823254 | FBXO11,MSH6 | c.146dup (p.Leu49PhefsTer24) c.443dup (p.Leu148PhefsTer24) n.527dup n.515dup c.238-7502dup (n.238-7502dup) n.350-7502dup c.170-1666dup (n.170-1666dup) c.*125-1666dup (n.*125-1666dup) c.443dup (p.Leu148PhefsTer7) c.261-4785dup (n.261-4785dup) c.-460dup (n.-460dup) c.146dup (p.Leu49PhefsTer?) c.-294dup (n.-294dup) c.440dup (p.Leu147PhefsTer24) c.-2654dup (n.-2654dup) c.260dup (p.Leu87PhefsTer24) | ClinVar dbSNP |