| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149820480T>C | CA3503325 | PPARGC1B | c.126T>C (p.Leu42=) c.51T>C (p.Leu17=) c.63T>C (p.Leu21=) c.-370T>C (n.-370T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149820480T>G | CA447141963 | PPARGC1B | c.126T>G (p.Leu42=) c.51T>G (p.Leu17=) c.63T>G (p.Leu21=) c.-370T>G (n.-370T>G) | dbSNP |
| 5 | g.149820480T>A | CA447141962 | PPARGC1B | c.126T>A (p.Leu42=) c.51T>A (p.Leu17=) c.63T>A (p.Leu21=) c.-370T>A (n.-370T>A) | dbSNP |
| 5 | g.149820480T= | CA1590667062 | PPARGC1B | c.126T= (p.Leu42=) c.51T= (p.Leu17=) c.63T= (p.Leu21=) c.-370T= (n.-370T=) | dbSNP |