| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.182581355C>A | CA1277989 | RNASEL | c.1775G>T (p.Arg592Leu) n.2058G>T | dbSNP ExAC gnomAD v4 |
| 1 | g.182581355C>T | CA1277988 | RNASEL | c.1775G>A (p.Arg592His) n.2058G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.182581355C>G | CA343650809 | RNASEL | c.1775G>C (p.Arg592Pro) n.2058G>C | dbSNP |
| 1 | g.182581355C= | CA1140596262 | RNASEL | c.1775G= (p.Arg592=) n.2058G= | dbSNP |