NEFH genotypes
| No | Family identifier/ancestry | Family members with available phenotype/(genotype) data | NEFH variant details | Reference | |
| SNV/indel | Amino acid change | ||||
| 1 | UK1 | 4 / (3) | c.3010_3011delGA | p.(Asp1004Glnfs*58) | Rebelo et al20 |
| 2 | UK2 | 2 / (1) | c.3010_3011delGA | p.(Asp1004Glnfs*58) | This study |
| 3 | UK3 | 1 / (1) | c.3010_3011delGA | p.(Asp1004Glnfs*58) | This study |
| 4 | UK4 | 11 / (7) | c.3017dup | p.(Pro1007Alafs*56) | This study |
| 5 | FR1 | 11 / (11) | c.3008_3009delAA | p.(Lys1003Argfs*59) | Jacquier et al19 |
| 6 | FR2 | 1 / (1) | c.3043_3044delAA | p.(Lys1015Glyfs*47) | Jacquier et al19 |
| 7 | FR3 | 1 / (1) | c.3057dup | p.(Lys1020Glufs*43) | This study |
| 8 | CN1 | 2 / (2) | c.3015_3027dup CAAGCCTCCAGAG (de-novo) | p.(Lys1010Glnfs*57) | Nam et al., 201721 |
indel, insertion or deletion; SNV, single-nucleotide variation.