| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.148120063C= | CA1589897820 | SPINK5 | c.2368C= (p.Arg790=) c.2311C= (p.Arg771=) c.2284C= (p.Arg762=) | dbSNP |