Table 1.
Nucleotide changea | Amino acid changeb |
Detection in gnomADc |
Minor allele frequency |
---|---|---|---|
c.390-392del | p.Phe131del | 1 / 251,492 | 0.000004 |
c.984C>G | p.Ile328Met | Not present | 0 |
Human nucleotide positions correspond to GenBank Accession number NM_020745.4
Human amino acid positions correspond to GenBank Accession number NP_065796.2