Table 1.
Bi-allelic DNAH10 variants identified in Chinese MMAF-affected men
| T012 II-2 | T089 II-1 | H049 II-2 | NK067 II-1, II-2 | |||
|---|---|---|---|---|---|---|
| cDNA alteration | c.12838G>A | c.7601C>T | c.5663G>A | c.11887C>T | c.12235del | c.7260dup |
| Variant allele | p.Gly4280Arg | p.Thr2534Met | p.Arg1888Gln | p.Arg3963Cys | p.Ser4079Alafs∗5 | p.Glu2421Argfs∗26 |
| Variant type | homozygous | homozygous | heterozygous | heterozygous | heterozygous | heterozygous |
| Allele frequency in human population | ||||||
| 1000 Genomes Project | 0 | 0 | 0 | 0 | 0 | 0 |
| East Asians in gnomAD | 0 | 0 | 0 | 0 | 0 | 0 |
| All individuals in gnomAD | 0.00005206 | 0.00001218 | 0.00000406 | 0.00000832 | 0 | 0 |
| Functional prediction | ||||||
| SIFT | damaging | damaging | damaging | damaging | NA | NA |
| PolyPhen-2 | damaging | damaging | damaging | damaging | NA | NA |
| MutationTaster | damaging | damaging | damaging | damaging | NA | NA |
| CADD | 27.7 | 28.6 | 6.8 | 8.2 | NA | NA |
NCBI reference sequence number of DNAH10 is GenBank: NM_207437.3. Variants with CADD values greater than 4 are considered to be deleterious. NA, not available.