2 | g.223959821T>G | CA144708 | MRPL44 | c.467T>G (p.Leu156Arg) c.425T>G (p.Leu142Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223959821T>C | CA2139052 | MRPL44 | c.467T>C (p.Leu156Pro) c.425T>C (p.Leu142Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |