| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2667011G>T | CA16602283 | SMCHD1 | n.561G>T c.404G>T (p.Ser135Ile) c.20G>T (p.Ser7Ile) c.-339G>T (n.-339G>T) n.593G>T | ClinVar dbSNP |
| 18 | g.2667011G>A | CA16602282 | SMCHD1 | n.561G>A c.404G>A (p.Ser135Asn) c.20G>A (p.Ser7Asn) c.-339G>A (n.-339G>A) n.593G>A | ClinVar dbSNP |
| 18 | g.2667011G= | CA2280666800 | SMCHD1 | n.561G= c.404G= (p.Ser135=) c.20G= (p.Ser7=) c.-339G= (n.-339G=) n.593G= | dbSNP |