| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.21858593G>T | CA130740 | MIB1 | n.1156G>T c.2827G>T (p.Val943Phe) n.2804G>T c.1357G>T (p.Val453Phe) c.2311G>T (p.Val771Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.21858593G= | CA2289403402 | MIB1 | n.1156G= c.2827G= (p.Val943=) n.2804G= c.1357G= (p.Val453=) c.2311G= (p.Val771=) | dbSNP |