| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.54938096G>A | CA115075 | NCR1,NLRP7 | c.2077C>T (p.Arg693Trp) c.1993C>T (p.Arg665Trp) c.2161C>T (p.Arg721Trp) c.683-40G>A (n.683-40G>A) n.2595C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54938096G>T | CA310015895 | NCR1,NLRP7 | c.2077C>A (p.Arg693=) c.1993C>A (p.Arg665=) c.2161C>A (p.Arg721=) c.683-40G>T (n.683-40G>T) n.2595C>A | dbSNP gnomAD v4 |
| 19 | g.54938096G= | CA2343150160 | NCR1,NLRP7 | c.2077C= (p.Arg693=) c.1993C= (p.Arg665=) c.2161C= (p.Arg721=) c.683-40G= (n.683-40G=) n.2595C= | dbSNP |
| 19 | g.54938096G>C | CA407860591 | NCR1,NLRP7 | c.2077C>G (p.Arg693Gly) c.1993C>G (p.Arg665Gly) c.2161C>G (p.Arg721Gly) c.683-40G>C (n.683-40G>C) n.2595C>G | dbSNP |