5 | g.148120063C>T | CA117360 | SPINK5 | c.2368C>T (p.Arg790Ter) c.2311C>T (p.Arg771Ter) c.2284C>T (p.Arg762Ter)
| ClinVar dbSNP gnomAD v4 |
5 | g.148120063C>A | CA447098858 | SPINK5 | c.2368C>A (p.Arg790=) c.2311C>A (p.Arg771=) c.2284C>A (p.Arg762=)
| ClinVar dbSNP gnomAD v4 |