|
A
| | | | | | | | | | | |
|---|
|
Family DOA
| |
139
|
141
|
142
|
143
|
144
|
145
|
146
|
147
|
148
|
140
|
|
Affected
| |
1
|
7
|
3
|
2
|
6
|
6
|
11
|
2
|
3
|
3
|
|
Unaffected
| | | |
1
| | | |
2
| | | |
|
SNP
|
Position
| | | | | | | | | | |
|
rs6796000
|
188,391,767
|
T
|
T
|
T
|
T
|
T
|
T
|
T
|
T
|
T
|
T
|
|
rs4677728
|
191,093,560
|
A
|
A
|
A
|
G
|
A
|
A
|
A
|
A
|
A
|
T
|
|
rs4453795
|
192,094,225
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
G
|
A
|
T
|
|
rs3905277
|
192,983,948
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
T
|
|
rs6788448
|
193,209,428
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
TC
|
|
rs11922359
|
193,290,262
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
|
rs9868128
|
193,299,458
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
TA
|
|
OPA1
|
193,310,933-193,415,599
| | | | | | | | | | |
|
rs1007408
|
193,475,519
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
G
|
|
rs11915891
|
193,488,257
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
T
|
|
rs6770515
|
193,490,499
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
|
rs9854346
|
193,492,100
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
A
|
|
rs9866505
|
193,676,362
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
C
|
T
|
|
rs4677655
|
194,826,387
|
T
|
T
|
T
|
C
|
T
|
T
|
T
|
T
|
T
|
T
|
|
rs3772109
|
196,005,479
|
T
|
T
|
T
|
C
|
C
|
T
|
T
|
T
|
T
|
T
|
|
B
| | | | | | | | | | | |
|
Family DOA
|
Position
|
149
|
150
|
151
|
152
|
153
|
154
|
155
|
156
|
157
|
158
|
|
Affected
| |
5
|
2
|
3
|
6
|
2
|
1
|
5
|
3
|
1
|
1
|
|
Unaffected
| | |
2
| |
1
|
1
| |
3
|
2
| | |
|
SNP
|
Position
| | | | | | | | | | |
|
rs6796000
|
188,391,767
|
T
|
T
|
T
|
T
|
T
|
T:T
|
T
|
T
|
T:T
|
T:T
|
|
rs4677728
|
191,093,560
|
A
|
A
|
A
|
A
|
A
|
G:A
|
G
|
G
|
A:A
|
G:A
|
|
rs4453795
|
192,094,225
|
G
|
GA
|
A
|
A
|
A
|
A:A
|
G
|
G
|
G:A
|
A:A
|
|
rs3905277
|
192,983,948
|
A
|
G
|
G
|
G
|
G
|
G:G
|
G
|
A
|
G:A
|
A:A
|
|
rs6788448
|
193,209,428
|
T
|
TC
|
TC
|
C
|
C
|
C:C
|
T
|
T
|
T:C
|
T:C
|
|
rs11922359
|
193,290,262
|
A
|
A
|
A
|
A
|
A
|
A:A
|
T
|
T
|
A:A
|
A:A
|
|
rs9868128
|
193,299,458
|
A
|
A
|
A
|
A
|
A
|
A:A
|
T
|
T
|
A:A
|
A:A
|
|
OPA1
|
193,310,933-193,415,599
| | | | | | | | | | |
|
rs1007408
|
193,475,519
|
C
|
GC
|
GC
|
GC
|
G
|
G:C
|
GC
|
C
|
G:G
|
G:C
|
|
rs11915891
|
193,488,257
|
C
|
TC
|
T
|
T
|
TC
|
T:C
|
C
|
C
|
T:T
|
T:C
|
|
rs6770515
|
193,490,499
|
G
|
G
|
GC
|
G
|
GA
|
G:G
|
G
|
G
|
G:G
|
G:G
|
|
rs9854346
|
193,492,100
|
T
|
T
|
T
|
T
|
TA
|
T:T
|
T
|
T
|
T:T
|
T:T
|
|
rs9866505
|
193,676,362
|
C
|
TC
|
T
|
T
|
TC
|
T:C
|
C
|
C
|
T:T
|
T:C
|
|
rs4677655
|
194,826,387
|
TC
|
TC
|
TC
|
C
|
T
|
T:C
|
TC
|
T
|
T:T
|
T:C
|
|
rs3772109
|
196,005,479
|
T
|
TC
|
T
|
T
|
T
|
T:T
|
T
|
T
|
T:T
|
T:T
|
- Position numbers according to hg19.
- A) Analysis of 10 families with c.983A > G mutation in exon 9.
- B) Analysis of 10 families with c.2708_2711delTTAG mutation in exon 27.
