Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.46608955A>G | CA16608277 | CALM3 | c.395A>G (p.Asp132Gly) n.2824A>G c.*431A>G (n.*431A>G) c.287A>G (p.Asp96Gly) n.519A>G n.505A>G n.853A>G n.585A>G c.197A>G (p.Asp66Gly) n.720A>G | ClinVar dbSNP |
19 | g.46608955A>T | CA406473593 | CALM3 | c.395A>T (p.Asp132Val) n.2824A>T c.*431A>T (n.*431A>T) c.287A>T (p.Asp96Val) n.519A>T n.505A>T n.853A>T n.585A>T c.197A>T (p.Asp66Val) n.720A>T | ClinVar dbSNP |