Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.46596080A>T | CA3837922 | CYP39A1 | c.972T>A (p.Asn324Lys) n.283T>A c.456T>A (p.Asn152Lys) c.912T>A (p.Asn304Lys) c.864T>A (p.Asn288Lys) c.768T>A (p.Asn256Lys) c.609T>A (p.Asn203Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.46596080A>G | CA450138861 | CYP39A1 | c.972T>C (p.Asn324=) n.283T>C c.456T>C (p.Asn152=) c.912T>C (p.Asn304=) c.864T>C (p.Asn288=) c.768T>C (p.Asn256=) c.609T>C (p.Asn203=) | dbSNP gnomAD v4 |