| 14 | g.50911799C>A | CA7183293 | PYGL | c.1900G>T (p.Asp634Tyr)
n.73G>T
c.1798G>T (p.Asp600Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50911799C>G | CA240710 | PYGL | c.1900G>C (p.Asp634His)
n.73G>C
c.1798G>C (p.Asp600His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
