Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19981583A>G | CA10105867 | ARVCF | c.524T>C (p.Val175Ala) c.335T>C (p.Val112Ala) n.395T>C n.522T>C n.432T>C n.430T>C c.278T>C (p.Val93Ala) n.810T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19981583A>T | CA410701478 | ARVCF | c.524T>A (p.Val175Glu) c.335T>A (p.Val112Glu) n.395T>A n.522T>A n.432T>A n.430T>A c.278T>A (p.Val93Glu) n.810T>A | dbSNP gnomAD v3 gnomAD v4 |