|
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
|
