| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.68838649C>A | CA10438113 | EFNB1 | c.161C>A (p.Pro54Gln) | dbSNP ExAC |
| X | g.68838649C>G | CA413437326 | EFNB1 | c.161C>G (p.Pro54Arg) | ClinVar dbSNP |
| X | g.68838649C>T | CA121633 | EFNB1 | c.161C>T (p.Pro54Leu) | ClinVar dbSNP COSMIC |
| X | g.68838649C= | CA2435563858 | EFNB1 | c.161C= (p.Pro54=) | dbSNP |