| 2 | g.55680879G>A | CA323570 | PNPT1 | c.493C>T (p.Pro165Ser)
c.*141C>T (n.*141C>T)
c.253C>T (p.Pro85Ser)
n.523C>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.55680879G= | CA1252405698 | PNPT1 | c.493C= (p.Pro165=)
c.*141C= (n.*141C=)
c.253C= (p.Pro85=)
n.523C=
| dbSNP |
