Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.44540940G>C | CA2426939936 | FUNDC1 | c.185+1005C>G (n.185+1005C>G) n.360+1005C>G | dbSNP |
X | g.44540940G>A | CA329528448 | FUNDC1 | c.185+1005C>T (n.185+1005C>T) n.360+1005C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |