From: Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Rare and novel variants present in panel of NSNHL genes in proband | ||||||||||
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Gene | Nucleotide | Exon | rsID | Sequence impact | CADD scaled | PolyPhen | SIFT | MAF 1000G all | MAF ESP all | MAF ExAC all |
USH2A NM_206933.2 | c.14074G > A p.Gly4692Arg | 64 | rs45549044 | Missense | 19.61 | PD | T | 0.002 | 0.0048 | 0.0048 |
EYA4 NM_004100.4 | c.804G > C p.Gln268His | 10 | N/A | Missense, Splicing region variant | 25 | PD | D | N/A | N/A | N/A |
MCPH1 NM_024596.4 | c.2180C > T p.Pro727Leu | 12 | rs199861426 | Missense | 13.36 | B | D | N/A | 0.0008 | 0.0011 |
MYO7A NM_000260.3 | c.5598C > A p.Leu1866= | 40 | rs111033504 | Synonymous | 3.5 | N/A | N/A | 0.002 | N/A | 0.0022 |
OTOA NM_144672.3 | c.2229C > T p.Ala743= | 20 | rs461179 | Synonymous | 1.96 | N/A | N/A | N/A | N/A | 0.0094 |