| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2169670G>A | CA16043869 | TH | c.292C>T (p.Arg98Ter) c.116C>T (p.Pro39Leu) c.128C>T (p.Pro43Leu) c.373C>T (p.Arg125Ter) c.385C>T (p.Arg129Ter) c.304C>T (p.Arg102Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2169670G>C | CA379112158 | TH | c.292C>G (p.Arg98Gly) c.116C>G (p.Pro39Arg) c.128C>G (p.Pro43Arg) c.373C>G (p.Arg125Gly) c.385C>G (p.Arg129Gly) c.304C>G (p.Arg102Gly) | dbSNP gnomAD v4 |
| 11 | g.2169670G= | CA1948009465 | TH | c.292C= (p.Arg98=) c.116C= (p.Pro39=) c.128C= (p.Pro43=) c.373C= (p.Arg125=) c.385C= (p.Arg129=) c.304C= (p.Arg102=) | dbSNP |
| 11 | g.2169670G>T | CA472018741 | TH | c.292C>A (p.Arg98=) c.116C>A (p.Pro39Gln) c.128C>A (p.Pro43Gln) c.373C>A (p.Arg125=) c.385C>A (p.Arg129=) c.304C>A (p.Arg102=) | dbSNP gnomAD v4 |