| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.9079672T>C | CA127858 | A2M,KLRG1 | c.2998A>G (p.Ile1000Val) n.353A>G n.451+10240A>G n.349-6951A>G c.2698A>G (p.Ile900Val) c.2548A>G (p.Ile850Val) c.*33+21506T>C (n.*33+21506T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.9079672T>A | CA383839249 | A2M,KLRG1 | c.2998A>T (p.Ile1000Phe) n.353A>T n.451+10240A>T n.349-6951A>T c.2698A>T (p.Ile900Phe) c.2548A>T (p.Ile850Phe) c.*33+21506T>A (n.*33+21506T>A) | dbSNP |
| 12 | g.9079672T>G | CA383839251 | A2M,KLRG1 | c.2998A>C (p.Ile1000Leu) n.353A>C n.451+10240A>C n.349-6951A>C c.2698A>C (p.Ile900Leu) c.2548A>C (p.Ile850Leu) c.*33+21506T>G (n.*33+21506T>G) | dbSNP |
| 12 | g.9079672T= | CA1630855496 | A2M,KLRG1 | c.2998A= (p.Ile1000=) n.353A= n.451+10240A= n.349-6951A= c.2698A= (p.Ile900=) c.2548A= (p.Ile850=) c.*33+21506T= (n.*33+21506T=) | dbSNP |