Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.123684627C>T | CA4867253 | ANXA13 | c.814G>A (p.Val272Ile) c.937G>A (p.Val313Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.123684627C>G | CA372140728 | ANXA13 | c.814G>C (p.Val272Leu) c.937G>C (p.Val313Leu) | dbSNP |
8 | g.123684627C= | CA1816610681 | ANXA13 | c.814G= (p.Val272=) c.937G= (p.Val313=) | dbSNP |
8 | g.123684627C>A | CA372140727 | ANXA13 | c.814G>T (p.Val272Phe) c.937G>T (p.Val313Phe) | dbSNP gnomAD v3 gnomAD v4 |