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Table 4 Variants observed in patient 3
| Gene | Variant | Relative frequency | PolyPhen-2 | SIFT | AGVGD | Grantham score | Splicing | Sanger sequencing |
|---|---|---|---|---|---|---|---|---|
| CDH23 | NM_022124.5:c.8167 G > C Chr10(GRCh37):g.73566027 G > C p.Val2723Leu | 0.52 | Possibly damaging | Tolerated | Class C0 | 32 | Not affected | / |
| OTOF | NM_194248.2:c.3636_3637del Chr2(NCBI36):g.26549600_26549601del p.Phe1212fs | 0.37 | / | / | / | / | Frame shift (The new reading frame ends in a STOP codon 78 positions downstream.) | Not confirmed |
| NM_194248.2:c.2317 C > TChr2(NCBI36):g.26553877 C > T p.Arg773Cys rs80356569 | 0.52 | Probably damaging | Not tolerated | Class C25 | 180 | Not affected | Confirmed | |
| NM_194248.2:c.4936 C > T Chr2(NCBI36):g.26541265 C > T p.Pro1646Ser rs17005371 | 0.48 | Benign | Not tolerated | Class C65 | 74 | Not affected | Confirmed | |
| PCDH15 | NM_001142763.1:c.1319A > C Chr10(NCBI36):g.55625450A > C p.Asp440Ala rs4935502 | 1 | Probably damaging | Tolerated | Class C0 | 126 | Not affected | Confirmed |
