| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72106185C>G | CA251500 | LRRC51,LRTOMT,TOMT | c.234C>G (p.Tyr78Ter) c.438-2420C>G (n.438-2420C>G) c.*52C>G (n.*52C>G) c.333C>G (p.Tyr111Ter) c.213C>G (p.Tyr71Ter) n.391C>G c.558C>G (p.Tyr186Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72106185C= | CA1981839950 | LRRC51,LRTOMT,TOMT | c.234C= (p.Tyr78=) c.438-2420C= (n.438-2420C=) c.*52C= (n.*52C=) c.333C= (p.Tyr111=) c.213C= (p.Tyr71=) n.391C= c.558C= (p.Tyr186=) | dbSNP |