| 8 | g.1771262C>T | CA056214 | CLN8 | c.208C>T (p.Arg70Cys)
c.161C>T
c.8C>T
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771262C= | CA1757666977 | CLN8 | c.208C= (p.Arg70=)
c.161C=
c.8C=
| dbSNP |
| 8 | g.1771262C>A | CA369953090 | CLN8 | c.208C>A (p.Arg70Ser)
c.161C>A
c.8C>A
| dbSNP gnomAD v4 |
