A deletion (c.31-136DelinsAACTCC) in which almost the entire Spef1b coding region (aa 11 to the end at 271) is lost due to a frameshift.
A deletion in spef1b accompanied by the insertion of 6 bases (AACTCC).
AACTCC
Spef1a1, Spef1b1 has axonemal central pair | absent phenotype