| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31741268C>T | CA3720908 | MSH5,MSH5-SAPCD1 | c.253C>T (p.Leu85Phe) n.477C>T n.324C>T c.23C>T n.381C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31741268C>G | CA363344243 | MSH5,MSH5-SAPCD1 | c.253C>G (p.Leu85Val) n.477C>G n.324C>G c.23C>G n.381C>G | dbSNP gnomAD v4 |
| 6 | g.31741268C= | CA1619285902 | MSH5,MSH5-SAPCD1 | c.253C= (p.Leu85=) n.477C= n.324C= c.23C= n.381C= | dbSNP |