Overview of the REC114 mutations
| Family | Genomic position on Chr15 (bp) | cDNA change | Protein change | Mutation type | Inheritance | Phenotype | ExAC† | GnomAD† | SIFT* | PPH2* |
| 1 | 73 843 342 | c.397T>G | p.C133G | Missense | AR | Abnormal fertilisation, embryo arrest | NA | NA | D | P |
| 2 | 73 843 496 | c.546+5G>A | Splicing | AR | Abnormal fertilisation, embryo arrest | NA | NA | NA | NA |
*Mutation assessment by SIFT and PolyPhen-2 (PPH2).
†Frequency of corresponding mutations in ExAC Browser and gnomAD.
AR, autosomal recessive; D, damaging; NA, not available; P, probably damaging.