4612315 |
c.311_313delTCT |
p.F104delF |
Chr.1:
240493163-240493165
on Build GRCh38
|
3719488 |
c.153G>A |
p.E51E |
Chr.1:
240493323-240493323
on Build GRCh38
|
350008 |
c.312C>G |
p.F104L |
Chr.1:
240493164-240493164
on Build GRCh38
|
361455 |
c.296G>T |
p.G99V |
Chr.1:
240493180-240493180
on Build GRCh38
|
4598034 |
c.263G>T |
p.R88L |
Chr.1:
240493213-240493213
on Build GRCh38
|
3486018 |
c.264G>A |
p.R88R |
Chr.1:
240493212-240493212
on Build GRCh38
|
3486019 |
c.262C>T |
p.R88W |
Chr.1:
240493214-240493214
on Build GRCh38
|
6246788 |
c.117C>A |
p.S39R |
Chr.1:
240493359-240493359
on Build GRCh38
|
6125672 |
c.249C>A |
p.S83R |
Chr.1:
240493227-240493227
on Build GRCh38
|
4512645 |
c.90C>T |
p.I30I |
Chr.1:
240493386-240493386
on Build GRCh38
|
6192226 |
c.198G>C |
p.K66N |
Chr.1:
240493278-240493278
on Build GRCh38
|
4521210 |
c.109G>A |
p.G37S |
Chr.1:
240493367-240493367
on Build GRCh38
|
5930554 |
c.319C>T |
p.P107S |
Chr.1:
240493157-240493157
on Build GRCh38
|
228299 |
c.244G>A |
p.V82M |
Chr.1:
240493232-240493232
on Build GRCh38
|
4486776 |
c.309C>T |
p.S103S |
Chr.1:
240493167-240493167
on Build GRCh38
|
3385952 |
c.294C>T |
p.Y98Y |
Chr.1:
240493182-240493182
on Build GRCh38
|
2049595 |
c.194G>A |
p.R65H |
Chr.1:
240493282-240493282
on Build GRCh38
|
2049602 |
c.92C>T |
p.P31L |
Chr.1:
240493384-240493384
on Build GRCh38
|
5767903 |
c.320C>T |
p.P107L |
Chr.1:
240493156-240493156
on Build GRCh38
|
5770295 |
c.250G>A |
p.E84K |
Chr.1:
240493226-240493226
on Build GRCh38
|
2049587 |
c.264G>C |
p.R88R |
Chr.1:
240493212-240493212
on Build GRCh38
|
4428104 |
c.231G>A |
p.P77P |
Chr.1:
240493245-240493245
on Build GRCh38
|
4030115 |
c.146T>A |
p.I49N |
Chr.1:
240493330-240493330
on Build GRCh38
|
5750987 |
c.320C>A |
p.P107Q |
Chr.1:
240493156-240493156
on Build GRCh38
|
7336246 |
c.226C>G |
p.Q76E |
Chr.1:
240493250-240493250
on Build GRCh38
|
1683831 |
c.309_311delCTT |
p.F104delF |
Chr.1:
240493165-240493167
on Build GRCh38
|
5669463 |
c.199T>C |
p.Y67H |
Chr.1:
240493277-240493277
on Build GRCh38
|
7331908 |
c.283C>T |
p.R95C |
Chr.1:
240493193-240493193
on Build GRCh38
|
1560755 |
c.224C>T |
p.T75M |
Chr.1:
240493252-240493252
on Build GRCh38
|
1580968 |
c.179T>C |
p.L60P |
Chr.1:
240493297-240493297
on Build GRCh38
|
400989 |
c.262C>A |
p.R88R |
Chr.1:
240493214-240493214
on Build GRCh38
|
7156202 |
c.167G>A |
p.S56N |
Chr.1:
240493309-240493309
on Build GRCh38
|
5448474 |
c.166A>G |
p.S56G |
Chr.1:
240493310-240493310
on Build GRCh38
|
5475660 |
c.269G>A |
p.R90H |
Chr.1:
240493207-240493207
on Build GRCh38
|
7163347 |
c.273C>T |
p.T91T |
Chr.1:
240493203-240493203
on Build GRCh38
|
1253630 |
c.279C>T |
p.L93L |
Chr.1:
240493197-240493197
on Build GRCh38
|
4891483 |
c.284G>A |
p.R95H |
Chr.1:
240493192-240493192
on Build GRCh38
|
679762 |
c.236G>C |
p.R79P |
Chr.1:
240493240-240493240
on Build GRCh38
|
679763 |
c.304A>C |
p.N102H |
Chr.1:
240493172-240493172
on Build GRCh38
|
5000007 |
c.193C>T |
p.R65C |
Chr.1:
240493283-240493283
on Build GRCh38
|
4796117 |
c.110G>A |
p.G37D |
Chr.1:
240493366-240493366
on Build GRCh38
|
4688449 |
c.280A>G |
p.N94D |
Chr.1:
240493196-240493196
on Build GRCh38
|
4688450 |
c.96G>A |
p.S32S |
Chr.1:
240493380-240493380
on Build GRCh38
|