| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.147759016T>A | CA151265 | GJA5 | c.223A>T (p.Ile75Phe) n.434-18545T>A n.744-18545T>A | ClinVar dbSNP |
| 1 | g.147759016T= | CA1148224667 | GJA5 | c.223A= (p.Ile75=) n.434-18545T= n.744-18545T= | dbSNP |
| 1 | g.147759016T>C | CA342397629 | GJA5 | c.223A>G (p.Ile75Val) n.434-18545T>C n.744-18545T>C | dbSNP gnomAD v4 |