Case | Position | ref | genotype | MAF | gene | protein | coding | SIFT (score) | polyphen | dbsnp | transcript |
---|---|---|---|---|---|---|---|---|---|---|---|
147 | chr2:26689695 | G | G/C | NA | OTOF | p. Pro1463Ala | c.4387C > G | Damaging (0) | Probably damaging (0.965) | Novel | NM_194248.2 |
chr2:26750782 | G | G/A | 0.008 | OTOF | p. Arg49Trp | c.145C > T | Damaging (0) | Probably damaging (1) | rs61746568 | ||
144 | chr2:26695500 | A | A/C | 0.009 | OTOF | p. Cys1251Gly | c.3751 T > G | Tolerated (0.46) | Benign (0) | rs41288773 | NM_194248.2 |
chr2:26750782 | G | G/A | 0.008 | OTOF | p. Arg49Trp | c.145C > T | Damaging (0) | Probably damaging (1) | rs61746568 | ||
151 | chr2:26696374 | C | C/T | 0.006 | OTOF | p. Arg1157Gln | c.3470G > A | Tolerated (1) | Probably damaging (1) | rs56054534 | NM_194248.2 |
chr2:26781384 | C | C/T | 0 | OTOF | p. Arg19Gln | c.56G > A | Damaging (0.006) | Probably damaging (1) | rs200316189 | ||
197 | chr10:55779975 | C | C/A | 0.001 | PCDH15 | p. Ala915Ser | c.2743G > T | Damaging (0.05) | Probably damaging (1) | rs139175351 | NM_001142763.1 |
chr10:55782743 | A | A/G | 0.006 | PCDH15 | p. Ile817Thr | c.2450 T > C | Damaging (0.023) | Probably damaging (0.998) | rs61731363 | ||
350 | chr10:55779975 | C | C/A | 0.001 | PCDH15 | p. Ala915Ser | c.2743G > T | Damaging (0.05) | Probably damaging (1) | rs139175351 | NM_001142763.1 |
chr10:55782743 | A | A/G | 0.006 | PCDH15 | p. Ile817Thr | c.2450 T > C | Damaging (0.023) | Probably damaging (0.998) | rs61731363 | ||
888 | chr10:55779975 | C | C/A | 0.001 | PCDH15 | p. Ala915Ser | c.2743G > T | Damaging (0.05) | Probably damaging (1) | rs139175351 | NM_001142763.1 |
chr10:55782743 | A | A/G | 0.006 | PCDH15 | p. Ile817Thr | c.2450 T > C | Damaging (0.023) | Probably damaging (0.998) | rs61731363 | ||
873 | chr3:121712010 | A | A/G | NA | ILDR1 | p. Val529Ala | c.1586 T > C | Tolerated (1) | Benign (0.39) | Novel | NM_001199799.1 |
chr7:129414567 | C | C/T | NA | MIR96 | rs370173345 | NR_029512.1 |