| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.131932301C>G | CA387298141 | PUS1 | c.430C>G (p.Arg144Gly) c.346C>G (p.Arg116Gly) c.271C>G (p.Arg91Gly) n.457C>G c.31C>G (p.Arg11Gly) n.885C>G | ClinVar dbSNP |
| 12 | g.131932301C>T | CA115605 | PUS1 | c.430C>T (p.Arg144Trp) c.346C>T (p.Arg116Trp) c.271C>T (p.Arg91Trp) n.457C>T c.31C>T (p.Arg11Trp) n.885C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.131932301C= | CA2072619501 | PUS1 | c.430C= (p.Arg144=) c.346C= (p.Arg116=) c.271C= (p.Arg91=) n.457C= c.31C= (p.Arg11=) n.885C= | dbSNP |