Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.17470454C>A | CA115603 | XYLT1 | c.343G>T (p.Ala115Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.17470454C>T | CA395219912 | XYLT1 | c.343G>A (p.Ala115Thr) | dbSNP gnomAD v4 |
16 | g.17470454C>G | CA395219911 | XYLT1 | c.343G>C (p.Ala115Pro) | dbSNP gnomAD v4 |
16 | g.17470454C= | CA2210697524 | XYLT1 | c.343G= (p.Ala115=) | dbSNP |