Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596711C>G | CA404850611 | CRLF1 | c.935G>C (p.Arg312Pro) c.400G>C c.869G>C (p.Arg290Pro) | dbSNP gnomAD v4 |
19 | g.18596711C>T | CA342071 | CRLF1 | c.935G>A (p.Arg312His) c.400G>A c.869G>A (p.Arg290His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596711C>A | CA9314048 | CRLF1 | c.935G>T (p.Arg312Leu) c.400G>T c.869G>T (p.Arg290Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |