Table 2.
Identified variants in proband, affected daughter and daughter’s unaffected father
| Proband (Affected Mother) |
Affected Daughter | Unaffected Biological Father of the Daughter | dbSNPs # | TOPMed MAF | Consequence Type | ||
|---|---|---|---|---|---|---|---|
| ZNF469 (NM_001127464.2) | exon1 | het.c.2035G>A | het.c.2035G>A | no variant | rs551591362 | 0.001 | missense |
| exon2 | het.c.3432T>C | het.c.3432T>C, | - | rs111557381 | 0.063 | synonymous | |
| no variant | het.c.7072G>C | homo.c.7072G>C | rs12598474 | 0.229 | synonymous | ||
| no variant | het.c.8009T>A | homo.c.8009T>A | rs3812956 | 0.308 | missense | ||
| homo.c.8520C>T | het.c.8520C>T | - | rs3812953 | 0.432 | synonymous | ||
| het.c.10244G>C | het.c.10244G>C | no variant | rs140056980 | 0.001 | missense | ||
| no variant | het.c.10888G>C | homo.c.10888G>C | rs1105066 | 0.460 | missense | ||
| het.c.11119A>G | het.c.11119A>G | no variant | rs536054902 | 0.0003 | missense | ||
| PRDM5 (NM_018699.3) | exon6 | no variant | het.c.681A>G | - | rs343192 | 0.279 | synonymous |
| intron8 | (intron)het.c.946–60G>C | (intron)het.c.946–60G>C | (intron)het.c.946–60G>C | rs4833677 | 0.225 | intron variant | |
| (intron)het.c.946–41G>C | (intron)het.c.946–41G>C | (intron)het.c.946–41G>C | rs4833676 | 0.225 | intron variant | ||
| intron9 | (intron)het.c.1030+35C>A | (intron)het.c.1030+35C>A | no variant | rs1511310 | 0.151 | intron variant | |
| (intron)het.c.1030+45A>G | (intron)het.c.1030+45A>G | (intron)het.c.1030+45A>G | rs1511309 | 0.278 | intron variant | ||
| exon10 | het.c.1066T>A | het.c.1066T>A | - | rs140634372 | 0.018 | missense | |
| exon11 | het.c.1234T>C | het.c.1234T>C | - | rs12499000 | 0.170 | synonymous | |
Identified rare variants (TOPMed < 0.01) shared between proband and the daughter are bolded. Common SNPs seen only in daughter and father are underlined and italicized. The cells labelled “-” indicate regions not screened.