Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52766089T>A | CA1910256934 | MBL2 | c.*2048A>T (n.*2048A>T) | dbSNP |
10 | g.52766089T>C | CA10631781 | MBL2 | c.*2048A>G (n.*2048A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766089T= | CA1910256933 | MBL2 | c.*2048A= (n.*2048A=) | dbSNP |