| 11 | g.89227932C>A | CA227506 | TYR | c.1146C>A (p.Asn382Lys)
n.2717+43528G>T
n.2732+43528G>T
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.89227932C>T | CA6221355 | TYR | c.1146C>T (p.Asn382=)
n.2717+43528G>A
n.2732+43528G>A
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
