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

De Keulenaer et al.

De Keulenaer et al. BMC Medical Genomics 2012 5:17   doi:10.1186/1755-8794-5-17

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