19 | g.18783128C>T | CA9316159 | COMP | c.2153G>A (p.Arg718Gln) c.1994G>A (p.Arg665Gln) c.2054G>A (p.Arg685Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18783128C>G | CA344892 | COMP | c.2153G>C (p.Arg718Pro) c.1994G>C (p.Arg665Pro) c.2054G>C (p.Arg685Pro)
| ClinVar dbSNP |