3426596 |
c.319G>T |
p.D107Y |
Chr.2:
61840358-61840358
on Build GRCh38
|
3972297 |
c.628G>T |
p.D210Y |
Chr.2:
61840376-61840376
on Build GRCh38
|
5481760 |
c.629A>G |
p.D210G |
Chr.2:
61840375-61840375
on Build GRCh38
|
7367116 |
c.570A>T |
p.R190S |
Chr.2:
61840434-61840434
on Build GRCh38
|
1408928 |
c.230C>A |
p.P77H |
Chr.2:
61840447-61840447
on Build GRCh38
|
4682669 |
c.239delA |
p.N80fs*3 |
Chr.2:
61840438-61840438
on Build GRCh38
|
1408926 |
c.557C>A |
p.P186H |
Chr.2:
61840447-61840447
on Build GRCh38
|
5352136 |
c.718G>A |
p.E240K |
Chr.2:
61840286-61840286
on Build GRCh38
|
5481761 |
c.629A>G |
p.D210G |
Chr.2:
61840375-61840375
on Build GRCh38
|
3972298 |
c.628G>T |
p.D210Y |
Chr.2:
61840376-61840376
on Build GRCh38
|
1592299 |
c.686G>A |
p.R229Q |
Chr.2:
61840318-61840318
on Build GRCh38
|
1668973 |
c.376A>T |
p.T126S |
Chr.2:
61840301-61840301
on Build GRCh38
|
1022147 |
c.372G>A |
p.V124V |
Chr.2:
61840305-61840305
on Build GRCh38
|
1615016 |
c.577A>G |
p.T193A |
Chr.2:
61840427-61840427
on Build GRCh38
|
4095073 |
c.685C>T |
p.R229* |
Chr.2:
61840319-61840319
on Build GRCh38
|
3582513 |
c.374C>T |
p.P125L |
Chr.2:
61840303-61840303
on Build GRCh38
|
6658764 |
c.601A>G |
p.N201D |
Chr.2:
61840403-61840403
on Build GRCh38
|
1408924 |
c.708T>C |
p.I236I |
Chr.2:
61840296-61840296
on Build GRCh38
|
3426592 |
c.768G>T |
p.M256I |
Chr.2:
61840236-61840236
on Build GRCh38
|
1615017 |
c.250A>G |
p.T84A |
Chr.2:
61840427-61840427
on Build GRCh38
|
4095072 |
c.685C>T |
p.R229* |
Chr.2:
61840319-61840319
on Build GRCh38
|
3426591 |
c.768G>T |
p.M256I |
Chr.2:
61840236-61840236
on Build GRCh38
|
116647 |
c.321T>G |
p.D107E |
Chr.2:
61840356-61840356
on Build GRCh38
|
4682667 |
c.566delA |
p.N189fs*3 |
Chr.2:
61840438-61840438
on Build GRCh38
|
3702210 |
c.581A>C |
p.Y194S |
Chr.2:
61840423-61840423
on Build GRCh38
|
5978367 |
c.673_674insA |
p.R225fs*35 |
Chr.2:
61840330-61840331
on Build GRCh38
|
3839799 |
c.460G>A |
p.E154K |
Chr.2:
61840217-61840217
on Build GRCh38
|
1022146 |
c.699G>A |
p.V233V |
Chr.2:
61840305-61840305
on Build GRCh38
|
1022150 |
c.627G>T |
p.E209D |
Chr.2:
61840377-61840377
on Build GRCh38
|
1206159 |
c.757G>T |
p.E253* |
Chr.2:
61840247-61840247
on Build GRCh38
|
5352137 |
c.718G>A |
p.E240K |
Chr.2:
61840286-61840286
on Build GRCh38
|
4095074 |
c.358C>T |
p.R120* |
Chr.2:
61840319-61840319
on Build GRCh38
|
3702209 |
c.581A>C |
p.Y194S |
Chr.2:
61840423-61840423
on Build GRCh38
|
1206160 |
c.430G>T |
p.E144* |
Chr.2:
61840247-61840247
on Build GRCh38
|
1408925 |
c.381T>C |
p.I127I |
Chr.2:
61840296-61840296
on Build GRCh38
|
1408923 |
c.708T>C |
p.I236I |
Chr.2:
61840296-61840296
on Build GRCh38
|
4095077 |
c.244A>C |
p.M82L |
Chr.2:
61840433-61840433
on Build GRCh38
|
5058986 |
c.717G>A |
p.P239P |
Chr.2:
61840287-61840287
on Build GRCh38
|
3839797 |
c.787G>A |
p.E263K |
Chr.2:
61840217-61840217
on Build GRCh38
|
1327018 |
c.714A>T |
p.V238V |
Chr.2:
61840290-61840290
on Build GRCh38
|
3426593 |
c.441G>T |
p.M147I |
Chr.2:
61840236-61840236
on Build GRCh38
|
5978369 |
c.346_347insA |
p.R116fs*35 |
Chr.2:
61840330-61840331
on Build GRCh38
|
3426594 |
c.646G>T |
p.D216Y |
Chr.2:
61840358-61840358
on Build GRCh38
|
1592300 |
c.786C>T |
p.I262I |
Chr.2:
61840218-61840218
on Build GRCh38
|
3582512 |
c.701C>T |
p.P234L |
Chr.2:
61840303-61840303
on Build GRCh38
|
5058988 |
c.390G>A |
p.P130P |
Chr.2:
61840287-61840287
on Build GRCh38
|
1022149 |
c.359G>A |
p.R120Q |
Chr.2:
61840318-61840318
on Build GRCh38
|
6658763 |
c.601A>G |
p.N201D |
Chr.2:
61840403-61840403
on Build GRCh38
|
3702211 |
c.254A>C |
p.Y85S |
Chr.2:
61840423-61840423
on Build GRCh38
|
4095076 |
c.571A>C |
p.M191L |
Chr.2:
61840433-61840433
on Build GRCh38
|
1408927 |
c.557C>A |
p.P186H |
Chr.2:
61840447-61840447
on Build GRCh38
|
3426595 |
c.646G>T |
p.D216Y |
Chr.2:
61840358-61840358
on Build GRCh38
|
7367118 |
c.243A>T |
p.R81S |
Chr.2:
61840434-61840434
on Build GRCh38
|
1592298 |
c.627G>T |
p.E209D |
Chr.2:
61840377-61840377
on Build GRCh38
|
4095075 |
c.571A>C |
p.M191L |
Chr.2:
61840433-61840433
on Build GRCh38
|
5481762 |
c.302A>G |
p.D101G |
Chr.2:
61840375-61840375
on Build GRCh38
|
6658765 |
c.274A>G |
p.N92D |
Chr.2:
61840403-61840403
on Build GRCh38
|
1615015 |
c.577A>G |
p.T193A |
Chr.2:
61840427-61840427
on Build GRCh38
|
1022151 |
c.300G>T |
p.E100D |
Chr.2:
61840377-61840377
on Build GRCh38
|
5352138 |
c.391G>A |
p.E131K |
Chr.2:
61840286-61840286
on Build GRCh38
|
3582511 |
c.701C>T |
p.P234L |
Chr.2:
61840303-61840303
on Build GRCh38
|
1022148 |
c.686G>A |
p.R229Q |
Chr.2:
61840318-61840318
on Build GRCh38
|
5978368 |
c.673_674insA |
p.R225fs*35 |
Chr.2:
61840330-61840331
on Build GRCh38
|
1153827 |
c.699G>A |
p.V233V |
Chr.2:
61840305-61840305
on Build GRCh38
|
1668972 |
c.703A>T |
p.T235S |
Chr.2:
61840301-61840301
on Build GRCh38
|
3799105 |
c.298G>A |
p.E100K |
Chr.2:
61840379-61840379
on Build GRCh38
|
4682668 |
c.566delA |
p.N189fs*3 |
Chr.2:
61840438-61840438
on Build GRCh38
|
260769 |
c.459C>T |
p.I153I |
Chr.2:
61840218-61840218
on Build GRCh38
|
5058987 |
c.717G>A |
p.P239P |
Chr.2:
61840287-61840287
on Build GRCh38
|
1327017 |
c.714A>T |
p.V238V |
Chr.2:
61840290-61840290
on Build GRCh38
|
7367117 |
c.570A>T |
p.R190S |
Chr.2:
61840434-61840434
on Build GRCh38
|
1327019 |
c.387A>T |
p.V129V |
Chr.2:
61840290-61840290
on Build GRCh38
|
3839798 |
c.787G>A |
p.E263K |
Chr.2:
61840217-61840217
on Build GRCh38
|
260770 |
c.786C>T |
p.I262I |
Chr.2:
61840218-61840218
on Build GRCh38
|
1206158 |
c.757G>T |
p.E253* |
Chr.2:
61840247-61840247
on Build GRCh38
|
3799104 |
c.625G>A |
p.E209K |
Chr.2:
61840379-61840379
on Build GRCh38
|
1668971 |
c.703A>T |
p.T235S |
Chr.2:
61840301-61840301
on Build GRCh38
|
3972299 |
c.301G>T |
p.D101Y |
Chr.2:
61840376-61840376
on Build GRCh38
|
3799103 |
c.625G>A |
p.E209K |
Chr.2:
61840379-61840379
on Build GRCh38
|