| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53382327G>A | CA516688034 | SMC1A | c.3342C>T (p.Asn1114=) c.2574C>T (p.Asn858=) c.3276C>T (p.Asn1092=) n.198C>T c.632C>T | dbSNP gnomAD v4 |
| X | g.53382327G>T | CA16043327 | SMC1A | c.3342C>A (p.Asn1114Lys) c.2574C>A (p.Asn858Lys) c.3276C>A (p.Asn1092Lys) n.198C>A c.632C>A | ClinVar dbSNP |