| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426126_127426128del | CA1859388 | PROC | c.577_579del (p.Lys193del) c.121-2231_121-2229del c.679_681del (p.Lys227del) c.520_522del (p.Lys174del) n.163_165del c.760_762del (p.Lys254del) c.742_744del (p.Lys248del) c.640_642del (p.Lys214del) c.820_822del (p.Lys274del) c.922_924del (p.Lys308del) c.862_864del (p.Lys288del) n.4462_4464del c.745_747del (p.Lys249del) c.763_765del (p.Lys255del) c.553_555del (p.Lys185del) c.571_573del (p.Lys191del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127426126_127426128dup | CA1286883412 | PROC | c.577_579dup (p.Lys193_Arg194insLys) c.121-2231_121-2229dup c.679_681dup (p.Lys227_Arg228insLys) c.520_522dup (p.Lys174_Arg175insLys) n.163_165dup c.760_762dup (p.Lys254_Arg255insLys) c.742_744dup (p.Lys248_Arg249insLys) c.640_642dup (p.Lys214_Arg215insLys) c.820_822dup (p.Lys274_Arg275insLys) c.922_924dup (p.Lys308_Arg309insLys) c.862_864dup (p.Lys288_Arg289insLys) n.4462_4464dup c.745_747dup (p.Lys249_Arg250insLys) c.763_765dup (p.Lys255_Arg256insLys) c.553_555dup (p.Lys185_Arg186insLys) c.571_573dup (p.Lys191_Arg192insLys) | dbSNP |