| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2667030G>C | CA16602277 | SMCHD1 | n.580G>C c.423G>C (p.Leu141Phe) c.39G>C (p.Leu13Phe) c.-320G>C (n.-320G>C) n.612G>C | ClinVar dbSNP |
| 18 | g.2667030G>T | CA401688335 | SMCHD1 | n.580G>T c.423G>T (p.Leu141Phe) c.39G>T (p.Leu13Phe) c.-320G>T (n.-320G>T) n.612G>T | ClinVar dbSNP gnomAD v4 |
| 18 | g.2667030G>A | CA502670785 | SMCHD1 | n.580G>A c.423G>A (p.Leu141=) c.39G>A (p.Leu13=) c.-320G>A (n.-320G>A) n.612G>A | dbSNP gnomAD v2 gnomAD v4 |