Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596918G>T | CA506116328 | CRLF1 | c.829C>A (p.Arg277=) c.294C>A c.763C>A (p.Arg255=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596918G>C | CA9314094 | CRLF1 | c.829C>G (p.Arg277Gly) c.294C>G c.763C>G (p.Arg255Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596918G>A | CA253577 | CRLF1 | c.829C>T (p.Arg277Ter) c.294C>T c.763C>T (p.Arg255Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |