| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53380670T>C | CA16608948 | SMC1A | c.3568A>G (p.Lys1190Glu) c.2800A>G (p.Lys934Glu) c.3502A>G (p.Lys1168Glu) c.788A>G | ClinVar dbSNP |
| X | g.53380670T>G | CA413242104 | SMC1A | c.3568A>C (p.Lys1190Gln) c.2800A>C (p.Lys934Gln) c.3502A>C (p.Lys1168Gln) c.788A>C | ClinVar dbSNP gnomAD v4 |