| 11 | g.5233058C>T | CA124641 | HBD | c.350G>A (p.Arg117His)
c.316-260G>A (n.316-260G>A)
c.127G>A (p.Ala43Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5233058C= | CA1949563699 | HBD | c.350G= (p.Arg117=)
c.316-260G= (n.316-260G=)
c.127G= (p.Ala43=)
| dbSNP |
