Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.48817351G>T | CA376686136 | WDFY4 | c.5447G>T (p.Arg1816Leu) c.1086G>T c.5567G>T (p.Arg1856Leu) c.1871G>T (p.Arg624Leu) | dbSNP |
10 | g.48817351G>C | CA376686134 | WDFY4 | c.5447G>C (p.Arg1816Pro) c.1086G>C c.5567G>C (p.Arg1856Pro) c.1871G>C (p.Arg624Pro) | dbSNP |
10 | g.48817351G>A | CA5492387 | WDFY4 | c.5447G>A (p.Arg1816Gln) c.1086G>A c.5567G>A (p.Arg1856Gln) c.1871G>A (p.Arg624Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |