Table E1.
Variants shared by both probands with a minor allelic frequency (MAF) of <0.001 in gnomAD
| Chromosome | Position | Gene name |
Zygosity | Variants |
|---|---|---|---|---|
| Chr2 | 133075726 | ZNF806 | Heterozygous | NM_001304449: c. 1187A>G:p.Glu396Gly |
| Chr2 | 133075904 | ZNF806 | Heterozygous | NM_001304449: c. 1366dupA:p.Asn456Lysfs*85 |
| Chr3 | 42251580 | TRAK1 | Heterozygous | NM_001265608: c.2064_2066del:p.Glu698del |
| Chr9 | 140773612 | CACNA1B | Heterozygous | NM_000718: c.390+1->ACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGA |
| Chr17 | 21318588 | KCNJ12 | Heterozygous | NM_021012: UTR5.c.−65C>G |
| Chr17 | 9000169 | MUC16 | Heterozygous | NM_024690: c.40588G>A:p.Gly13530Ser |
| Chr1 | 7998274 | TNFRSF9 | Homozygous | NM_001561: c.325G>A:p.Gly109Ser |
| Chr1 | 7724977 | CAMTA1 | Homozygous | NM_015215: c.2370C>G:p.Ile790Met |