| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143920817G>C | CA4925114 | PLEC | c.9136C>G (p.Arg3046Gly) c.9055C>G (p.Arg3019Gly) c.8722C>G (p.Arg2908Gly) c.8935C>G (p.Arg2979Gly) c.9004C>G (p.Arg3002Gly) c.5704C>G (p.Arg1902Gly) c.9415C>G (p.Arg3139Gly) c.8938C>G (p.Arg2980Gly) c.8962C>G (p.Arg2988Gly) c.9016C>G (p.Arg3006Gly) c.8908C>G (p.Arg2970Gly) c.9085C>G (p.Arg3029Gly) c.9073C>G (p.Arg3025Gly) c.9430C>G (p.Arg3144Gly) c.9031C>G (p.Arg3011Gly) c.9019C>G (p.Arg3007Gly) c.8977C>G (p.Arg2993Gly) c.8953C>G (p.Arg2985Gly) c.8923C>G (p.Arg2975Gly) c.9100C>G (p.Arg3034Gly) c.8950C>G (p.Arg2984Gly) c.5650C>G (p.Arg1884Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143920817G>A | CA249467 | PLEC | c.9136C>T (p.Arg3046Ter) c.9055C>T (p.Arg3019Ter) c.8722C>T (p.Arg2908Ter) c.8935C>T (p.Arg2979Ter) c.9004C>T (p.Arg3002Ter) c.5704C>T (p.Arg1902Ter) c.9415C>T (p.Arg3139Ter) c.8938C>T (p.Arg2980Ter) c.8962C>T (p.Arg2988Ter) c.9016C>T (p.Arg3006Ter) c.8908C>T (p.Arg2970Ter) c.9085C>T (p.Arg3029Ter) c.9073C>T (p.Arg3025Ter) c.9430C>T (p.Arg3144Ter) c.9031C>T (p.Arg3011Ter) c.9019C>T (p.Arg3007Ter) c.8977C>T (p.Arg2993Ter) c.8953C>T (p.Arg2985Ter) c.8923C>T (p.Arg2975Ter) c.9100C>T (p.Arg3034Ter) c.8950C>T (p.Arg2984Ter) c.5650C>T (p.Arg1884Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |