| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.147758554G>T | CA128545 | GJA5 | c.685C>A (p.Leu229Met) n.434-19007G>T n.744-19007G>T | ClinVar dbSNP |
| 1 | g.147758554G>A | CA420610759 | GJA5 | c.685C>T (p.Leu229=) n.434-19007G>A n.744-19007G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.147758554G= | CA1144228970 | GJA5 | c.685C= (p.Leu229=) n.434-19007G= n.744-19007G= | dbSNP |