| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.147758953C>T | CA342397236 | GJA5 | c.286G>A (p.Ala96Thr) n.434-18608C>T n.744-18608C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.147758953C>A | CA127021 | GJA5 | c.286G>T (p.Ala96Ser) n.434-18608C>A n.744-18608C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.147758953C>G | CA342397233 | GJA5 | c.286G>C (p.Ala96Pro) n.434-18608C>G n.744-18608C>G | dbSNP |
| 1 | g.147758953C= | CA1141581046 | GJA5 | c.286G= (p.Ala96=) n.434-18608C= n.744-18608C= | dbSNP |