4882033 |
c.947A>T |
p.Y316F |
Chr.1:
26697350-26697350
on Build GRCh38
|
51233 |
c.782_791del10 |
p.S261fs*99 |
Chr.1:
26697185-26697194
on Build GRCh38
|
5881717 |
c.955_971del17 |
p.G319fs*75 |
Chr.1:
26697358-26697374
on Build GRCh38
|
6969273 |
c.917delG |
p.G307fs*56 |
Chr.1:
26697320-26697320
on Build GRCh38
|
6951606 |
c.969_1039del71 |
p.A325fs*51 |
Chr.1:
26697372-26697442
on Build GRCh38
|
4633730 |
c.804G>A |
p.Q268Q |
Chr.1:
26697207-26697207
on Build GRCh38
|
51488 |
c.1007_1007delG |
p.C336fs*27 |
Chr.1:
26697410-26697410
on Build GRCh38
|
6948829 |
c.803A>G |
p.Q268R |
Chr.1:
26697206-26697206
on Build GRCh38
|
6950477 |
c.966_967insG |
p.A325fs*75 |
Chr.1:
26697369-26697370
on Build GRCh38
|
5948642 |
c.1003C>T |
p.Q335* |
Chr.1:
26697406-26697406
on Build GRCh38
|
51241 |
c.883_884insC |
p.L295fs*105 |
Chr.1:
26697286-26697287
on Build GRCh38
|
6976510 |
c.1009_1010insG |
p.A339fs*61 |
Chr.1:
26697412-26697413
on Build GRCh38
|
5622689 |
c.791C>A |
p.S264* |
Chr.1:
26697194-26697194
on Build GRCh38
|
7338874 |
c.880_881insC |
p.L295fs*105 |
Chr.1:
26697283-26697284
on Build GRCh38
|
133010 |
c.879_880insC |
p.T294fs*106 |
Chr.1:
26697282-26697283
on Build GRCh38
|
6931080 |
c.855_861delAACTCCC |
p.T286fs*75 |
Chr.1:
26697258-26697264
on Build GRCh38
|
6853300 |
c.865C>T |
p.P289S |
Chr.1:
26697268-26697268
on Build GRCh38
|
6960833 |
c.967delG |
p.G324fs*39 |
Chr.1:
26697370-26697370
on Build GRCh38
|
6371069 |
c.922T>C |
p.Y308H |
Chr.1:
26697325-26697325
on Build GRCh38
|
5552057 |
c.966C>G |
p.D322E |
Chr.1:
26697369-26697369
on Build GRCh38
|
4995435 |
c.827G>A |
p.G276E |
Chr.1:
26697230-26697230
on Build GRCh38
|
1639809 |
c.833G>C |
p.G278A |
Chr.1:
26697236-26697236
on Build GRCh38
|
1602137 |
c.997G>A |
p.A333T |
Chr.1:
26697400-26697400
on Build GRCh38
|
1235374 |
c.942C>G |
p.G314G |
Chr.1:
26697345-26697345
on Build GRCh38
|
133020 |
c.969_975delGGGCGCC |
p.G324fs*37 |
Chr.1:
26697372-26697378
on Build GRCh38
|
6958373 |
c.938G>T |
p.G313V |
Chr.1:
26697341-26697341
on Build GRCh38
|
1602135 |
c.927G>T |
p.Q309H |
Chr.1:
26697330-26697330
on Build GRCh38
|
6975961 |
c.996delG |
p.A333fs*30 |
Chr.1:
26697399-26697399
on Build GRCh38
|
6920158 |
c.841G>T |
p.A281S |
Chr.1:
26697244-26697244
on Build GRCh38
|
5347042 |
c.824G>C |
p.G275A |
Chr.1:
26697227-26697227
on Build GRCh38
|
6978516 |
c.933delC |
p.G314fs*49 |
Chr.1:
26697336-26697336
on Build GRCh38
|
6983737 |
c.1001C>A |
p.S334* |
Chr.1:
26697404-26697404
on Build GRCh38
|
3943838 |
c.959C>T |
p.P320L |
Chr.1:
26697362-26697362
on Build GRCh38
|
6949549 |
c.860C>T |
p.P287L |
Chr.1:
26697263-26697263
on Build GRCh38
|
6943515 |
c.927G>C |
p.Q309H |
Chr.1:
26697330-26697330
on Build GRCh38
|
6936530 |
c.1001C>G |
p.S334W |
Chr.1:
26697404-26697404
on Build GRCh38
|
6977187 |
c.937delG |
p.G314fs*49 |
Chr.1:
26697340-26697340
on Build GRCh38
|
6948441 |
c.770_779del10 |
p.S258fs*102 |
Chr.1:
26697173-26697182
on Build GRCh38
|
6940540 |
c.853_856GGAA>TGAC |
p.G285_T286>* |
Chr.1:
26697256-26697259
on Build GRCh38
|
126559 |
c.802C>T |
p.Q268* |
Chr.1:
26697205-26697205
on Build GRCh38
|
6940689 |
c.909C>A |
p.S303R |
Chr.1:
26697312-26697312
on Build GRCh38
|
6604523 |
c.806A>G |
p.Q269R |
Chr.1:
26697209-26697209
on Build GRCh38
|
5347056 |
c.880A>C |
p.T294P |
Chr.1:
26697283-26697283
on Build GRCh38
|
6964804 |
c.789_792delTTCG |
p.S264fs*98 |
Chr.1:
26697192-26697195
on Build GRCh38
|
51230 |
c.898_899insCGTC |
p.P302fs*99 |
Chr.1:
26697301-26697302
on Build GRCh38
|
6919990 |
c.937_938GG>AA |
p.G313K |
Chr.1:
26697340-26697341
on Build GRCh38
|
6949054 |
c.859delC |
p.Q288fs*75 |
Chr.1:
26697262-26697262
on Build GRCh38
|
1235370 |
c.1043C>A |
p.A348D |
Chr.1:
26697396-26697396
on Build GRCh38
|
6963565 |
c.950G>A |
p.S317N |
Chr.1:
26697353-26697353
on Build GRCh38
|
7253200 |
c.801_804delTCAG |
p.Q268fs*94 |
Chr.1:
26697204-26697207
on Build GRCh38
|
6906444 |
c.955_980del26 |
p.Q321fs*70 |
Chr.1:
26697358-26697383
on Build GRCh38
|
6950513 |
c.936_937insG |
p.D315fs*85 |
Chr.1:
26697339-26697340
on Build GRCh38
|
6944829 |
c.981delG |
p.G328fs*35 |
Chr.1:
26697384-26697384
on Build GRCh38
|
7338873 |
c.874_875insG |
p.T292fs*108 |
Chr.1:
26697277-26697278
on Build GRCh38
|
6944976 |
c.967_1010del44 |
p.A325fs*60 |
Chr.1:
26697370-26697413
on Build GRCh38
|
51431 |
c.805C>T |
p.Q269* |
Chr.1:
26697208-26697208
on Build GRCh38
|
133011 |
c.827_827delG |
p.G276fs*87 |
Chr.1:
26697230-26697230
on Build GRCh38
|
5352519 |
c.875delC |
p.T294fs*69 |
Chr.1:
26697278-26697278
on Build GRCh38
|
6972995 |
c.1001C>T |
p.S334L |
Chr.1:
26697404-26697404
on Build GRCh38
|
6957767 |
c.782C>A |
p.S261* |
Chr.1:
26697185-26697185
on Build GRCh38
|
6949760 |
c.782C>G |
p.S261W |
Chr.1:
26697185-26697185
on Build GRCh38
|
6925583 |
c.884delT |
p.L295fs*68 |
Chr.1:
26697287-26697287
on Build GRCh38
|
6540237 |
c.925C>T |
p.Q309* |
Chr.1:
26697328-26697328
on Build GRCh38
|
1639810 |
c.885_888delCAAC |
p.Q297fs*65 |
Chr.1:
26697288-26697291
on Build GRCh38
|
1133048 |
c.606_607delTC |
p.H203fs*196 |
Chr.1:
26697380-26697381
on Build GRCh38
|
5967145 |
c.417_417delC |
p.A140fs*92 |
Chr.1:
26697191-26697191
on Build GRCh38
|
1602138 |
c.1010delG |
p.A339fs*24 |
Chr.1:
26697413-26697413
on Build GRCh38
|
1639808 |
c.822delG |
p.G276fs*87 |
Chr.1:
26697225-26697225
on Build GRCh38
|
133019 |
c.854_854delG |
p.G285fs*78 |
Chr.1:
26697257-26697257
on Build GRCh38
|
1602136 |
c.974delC |
p.G326fs*37 |
Chr.1:
26697377-26697377
on Build GRCh38
|
6950315 |
c.797_798TC>AA |
p.F266* |
Chr.1:
26697200-26697201
on Build GRCh38
|
6949055 |
c.834_855del22 |
p.P279fs*77 |
Chr.1:
26697237-26697258
on Build GRCh38
|
4746829 |
c.829delG |
p.G277fs*86 |
Chr.1:
26697232-26697232
on Build GRCh38
|
6925024 |
c.911C>A |
p.S304* |
Chr.1:
26697314-26697314
on Build GRCh38
|
5347033 |
c.818C>T |
p.A273V |
Chr.1:
26697221-26697221
on Build GRCh38
|
6053345 |
c.830_840del11 |
p.P279fs*117 |
Chr.1:
26697233-26697243
on Build GRCh38
|
6916256 |
c.826G>T |
p.G276* |
Chr.1:
26697229-26697229
on Build GRCh38
|
6920848 |
c.798C>A |
p.F266L |
Chr.1:
26697201-26697201
on Build GRCh38
|
7345389 |
c.895_896delCT |
p.L299fs*100 |
Chr.1:
26697298-26697299
on Build GRCh38
|