5961346 |
c.392G>T |
p.G131V |
Chr.7:
48007229-48007229
on Build GRCh38
|
5447765 |
c.398T>C |
p.L133P |
Chr.7:
48007259-48007259
on Build GRCh38
|
1090206 |
c.362G>A |
p.R121H |
Chr.7:
48007295-48007295
on Build GRCh38
|
348118 |
c.382G>T |
p.E128* |
Chr.7:
48007275-48007275
on Build GRCh38
|
5928987 |
c.379G>A |
p.D127N |
Chr.7:
48007242-48007242
on Build GRCh38
|
6536238 |
c.443A>C |
p.H148P |
Chr.7:
48007214-48007214
on Build GRCh38
|
7213493 |
c.256_257insTCCTG |
p.D87fs*17 |
Chr.7:
48007159-48007160
on Build GRCh38
|
1451120 |
c.479C>A |
p.P160Q |
Chr.7:
48007178-48007178
on Build GRCh38
|
3950562 |
c.451A>G |
p.N151D |
Chr.7:
48007206-48007206
on Build GRCh38
|
4164374 |
c.367G>C |
p.A123P |
Chr.7:
48007254-48007254
on Build GRCh38
|
3950561 |
c.263+8G>T |
p.? |
Chr.7:
48007145-48007145
on Build GRCh38
|
4864883 |
c.345C>T |
p.I115I |
Chr.7:
48007276-48007276
on Build GRCh38
|
3950563 |
c.415A>G |
p.N139D |
Chr.7:
48007206-48007206
on Build GRCh38
|
3881442 |
c.447C>G |
p.N149K |
Chr.7:
48007210-48007210
on Build GRCh38
|
4863298 |
c.326G>A |
p.R109H |
Chr.7:
48007295-48007295
on Build GRCh38
|
129499 |
c.361C>T |
p.R121C |
Chr.7:
48007296-48007296
on Build GRCh38
|
3881441 |
c.444G>A |
p.P148P |
Chr.7:
48007177-48007177
on Build GRCh38
|
6110605 |
c.363G>T |
p.L121L |
Chr.7:
48007258-48007258
on Build GRCh38
|
601460 |
c.381C>T |
p.I127I |
Chr.7:
48007276-48007276
on Build GRCh38
|
4362582 |
c.433G>T |
p.V145L |
Chr.7:
48007188-48007188
on Build GRCh38
|
5961345 |
c.428G>T |
p.G143V |
Chr.7:
48007229-48007229
on Build GRCh38
|
4949087 |
c.338T>G |
p.F113C |
Chr.7:
48007283-48007283
on Build GRCh38
|
4861874 |
c.108G>A |
p.L36L |
Chr.7:
48007308-48007308
on Build GRCh38
|
7213491 |
c.492+5_492+6insTCCTG |
p.? |
Chr.7:
48007159-48007160
on Build GRCh38
|
421427 |
c.432G>A |
p.M144I |
Chr.7:
48007225-48007225
on Build GRCh38
|
5928986 |
c.415G>A |
p.D139N |
Chr.7:
48007242-48007242
on Build GRCh38
|
4897390 |
c.325C>T |
p.R109C |
Chr.7:
48007296-48007296
on Build GRCh38
|
4164373 |
c.403G>C |
p.A135P |
Chr.7:
48007254-48007254
on Build GRCh38
|
4362581 |
c.238C>A |
p.P80T |
Chr.7:
48007178-48007178
on Build GRCh38
|
1451121 |
c.374T>G |
p.F125C |
Chr.7:
48007283-48007283
on Build GRCh38
|
3263988 |
c.469G>T |
p.V157L |
Chr.7:
48007188-48007188
on Build GRCh38
|
5686829 |
c.334C>G |
p.L112V |
Chr.7:
48007287-48007287
on Build GRCh38
|
4587441 |
c.456+1G>A |
p.? |
Chr.7:
48007164-48007164
on Build GRCh38
|
4587440 |
c.492+1G>A |
p.? |
Chr.7:
48007164-48007164
on Build GRCh38
|
6110604 |
c.399G>T |
p.L133L |
Chr.7:
48007258-48007258
on Build GRCh38
|
4812243 |
c.396G>A |
p.M132I |
Chr.7:
48007225-48007225
on Build GRCh38
|
1090205 |
c.370C>A |
p.L124I |
Chr.7:
48007287-48007287
on Build GRCh38
|
7213513 |
c.263+5G>A |
p.? |
Chr.7:
48007148-48007148
on Build GRCh38
|
4164375 |
c.162G>C |
p.K54N |
Chr.7:
48007254-48007254
on Build GRCh38
|
1451119 |
c.480G>A |
p.P160P |
Chr.7:
48007177-48007177
on Build GRCh38
|
4863423 |
c.334C>A |
p.L112I |
Chr.7:
48007287-48007287
on Build GRCh38
|
6178199 |
c.346G>T |
p.E116* |
Chr.7:
48007275-48007275
on Build GRCh38
|
1267034 |
c.370C>G |
p.L124V |
Chr.7:
48007287-48007287
on Build GRCh38
|
4861873 |
c.313G>A |
p.E105K |
Chr.7:
48007308-48007308
on Build GRCh38
|
3881443 |
c.411C>G |
p.N137K |
Chr.7:
48007210-48007210
on Build GRCh38
|
4440139 |
c.383T>C |
p.M128T |
Chr.7:
48007238-48007238
on Build GRCh38
|
4949088 |
c.133T>G |
p.F45V |
Chr.7:
48007283-48007283
on Build GRCh38
|
4362580 |
c.443C>A |
p.P148Q |
Chr.7:
48007178-48007178
on Build GRCh38
|
4440138 |
c.419T>C |
p.M140T |
Chr.7:
48007238-48007238
on Build GRCh38
|
4946237 |
c.387G>T |
p.K129N |
Chr.7:
48007234-48007234
on Build GRCh38
|
1568942 |
c.423G>T |
p.K141N |
Chr.7:
48007234-48007234
on Build GRCh38
|
6536239 |
c.407A>C |
p.H136P |
Chr.7:
48007214-48007214
on Build GRCh38
|
4587442 |
c.252G>A |
p.E84E |
Chr.7:
48007164-48007164
on Build GRCh38
|
40872 |
c.478C>T |
p.P160S |
Chr.7:
48007179-48007179
on Build GRCh38
|
5961347 |
c.187G>T |
p.G63C |
Chr.7:
48007229-48007229
on Build GRCh38
|
7213492 |
c.456+5_456+6insTCCTG |
p.? |
Chr.7:
48007159-48007160
on Build GRCh38
|
746720 |
c.349G>A |
p.E117K |
Chr.7:
48007308-48007308
on Build GRCh38
|
5447766 |
c.362T>C |
p.L121P |
Chr.7:
48007259-48007259
on Build GRCh38
|
285440 |
c.382G>A |
p.E128K |
Chr.7:
48007275-48007275
on Build GRCh38
|