Proband
|
Inheritance
|
Genomic coordinatesa
|
Reference reads
|
Variant reads
|
Total reads
|
Gene
|
cDNA (RefSeq ID)
|
Protein (RefSeq ID)
|
PolyPhen-2 HumVar score
|
---|
D28C
|
Recessive
|
chr9:75435804 C > T
|
643
|
666
|
1,309
|
TMC1
|
c.1810C > T (NM_138691)
|
p.R604X (NP_619636)
|
Nonsense
|
| |
chr9:75435933 T > C
|
770
|
707
|
1,477
|
TMC1
|
c.1939T > C (NM_138691)
|
p.S647P (NP_619636)
|
0.912
|
Z686A
|
Recessive
|
chr10:73565593 G > T
|
0
|
425
|
425
|
CDH23
|
c.7903G > T (NM_022124.5)
|
p.V2635F (NP_071407)
|
0.876
|
Z421A
|
Recessive
|
chr17:18058028 G > A
|
43
|
43
|
86
|
MYO15A
|
c.8183G > A (NM_016239)
|
p.R2728H (NP_057323)
|
0.992
|
| |
chr17:18022487 delCGb
| | | |
MYO15A
|
c.373delCG (NM_016239)
|
p.R125VfsX101 (NP_057323)
|
Frameshift
|
DC5
|
Recessive
|
chr17:1,035800 G > A
|
0
|
89
|
89
|
MYO15A
|
c.4240G > A (NM_016239)
|
p.E1414K (NP_057323)
|
0.971
|
K13576A
|
Dominant
|
chr4:6304112 G > A
|
86
|
90
|
176
|
WFS1
|
c.2756G > A (NM_001145853)
|
p.E864K (NP_001139325)
|
0.959
|
W1098A
|
Dominant
|
chr11:121038773 C > T
|
855
|
808
|
1,663
|
TECTA
|
c.5597C > T (NM_005422.2)
|
p.T1866M (NP_005413)
|
0.995
|
- ahg19. bDetected as two SNPs by MPS (see explanation in text).