| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.147758986C>A | CA1065806 | GJA5 | c.253G>T (p.Val85Phe) n.434-18575C>A n.744-18575C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.147758986C>T | CA128543 | GJA5 | c.253G>A (p.Val85Ile) n.434-18575C>T n.744-18575C>T | ClinVar dbSNP |
| 1 | g.147758986C>G | CA342397439 | GJA5 | c.253G>C (p.Val85Leu) n.434-18575C>G n.744-18575C>G | dbSNP gnomAD v4 |
| 1 | g.147758986C= | CA1144228972 | GJA5 | c.253G= (p.Val85=) n.434-18575C= n.744-18575C= | dbSNP |