Table 1.
Candidate variants used for cosegregation analysis
| Gene | Position | Zygosity | Variant | db SNP ID | MAF in genomAD (exome_all) | CADD | GERP++ | SiPhy |
|---|---|---|---|---|---|---|---|---|
| RASA1 | Chr5: 86659294 | Hom | NM_002890: c.1583A>G. p.Tyr528Cys | rs145752649 | 0.0015 | 28.3 | 5.58 | 15.75 |
| BBS12 | Chr 4: 123664906 | Hom | NM_152618: c.1859 A>G: p.Gln620Arg | rs368861241 | 0.0005 | 23.7 | 5.81 | 10.955 |
| HUWE1 | Chr X: 53602150 | Hemi | NM_031407: c. 6062C>T:p.Thr2021Ile | Novel | ND | 22.6 | 4.37 | 12.15 |
| MYO1E | Chr 15: 59430501 | Het | NM_004998: c. 3146 C>A: p.Pro1049His | rs147579391 | 0.0023 | 31 | 5.79 | 20.044 |
| MYO1E | Chr 15: 59519746 | Het | NM_004998: c.554 G>A p.Asp185Gly | rs141565214 | 0.0022 | 25 | 6.02 | 16.545 |
Mutations were named according to http://varnomen.hgvs.org/.
SNP; Single nucleotide polymorphisms, MAF; Minor allele frequency, CADD; Combined annotation dependent depletion, GERP++; Genomic evolutionary rate profiling, Chr; Chromosome, Hom; Homozygous, Hemi; Hemizygous, Het; Heterozygous, and ND; No data.