| 14057 |
c.733C>T |
p.Q245* |
Chr.18:
51058190-51058190
on Build GRCh38
|
| 14104 |
c.1_*del |
p.0 |
Chr.18:
51047047-51078467
on Build GRCh38
|
| 6475986 |
c.842C>T |
p.P281L |
Chr.18:
51058394-51058394
on Build GRCh38
|
| 6475988 |
c.893C>A |
p.P298H |
Chr.18:
51058445-51058445
on Build GRCh38
|
| 95255 |
c.785A>G |
p.H262R |
Chr.18:
51058242-51058242
on Build GRCh38
|
| 6475982 |
c.670C>A |
p.Q224K |
Chr.18:
51058127-51058127
on Build GRCh38
|
| 6585348 |
c.670C>T |
p.Q224* |
Chr.18:
51058127-51058127
on Build GRCh38
|
| 4728228 |
c.745C>T |
p.Q249* |
Chr.18:
51058202-51058202
on Build GRCh38
|
| 5546625 |
c.767A>T |
p.Q256L |
Chr.18:
51058224-51058224
on Build GRCh38
|
| 6904742 |
c.754G>A |
p.G252R |
Chr.18:
51058211-51058211
on Build GRCh38
|
| 6475984 |
c.712T>C |
p.L238L |
Chr.18:
51058169-51058169
on Build GRCh38
|
| 87476 |
c.788-1G>T |
p.? |
Chr.18:
51058339-51058339
on Build GRCh38
|
| 6948423 |
c.703G>A |
p.E235K |
Chr.18:
51058160-51058160
on Build GRCh38
|
| 5079016 |
c.851delA |
p.N285fs*51 |
Chr.18:
51058403-51058403
on Build GRCh38
|
| 1389041 |
c.686_687insG |
p.S232fs*3 |
Chr.18:
51058143-51058144
on Build GRCh38
|
| 3734672 |
c.737C>T |
p.P246L |
Chr.18:
51058194-51058194
on Build GRCh38
|
| 6019379 |
c.875_875delC |
p.P292fs*44 |
Chr.18:
51058427-51058427
on Build GRCh38
|
| 14150 |
c.904T>C |
p.W302R |
Chr.18:
51058456-51058456
on Build GRCh38
|
| 5056065 |
c.888C>A |
p.P296P |
Chr.18:
51058440-51058440
on Build GRCh38
|
| 6912240 |
c.741delA |
p.Q248fs*88 |
Chr.18:
51058198-51058198
on Build GRCh38
|
| 7325472 |
c.736C>T |
p.P246S |
Chr.18:
51058193-51058193
on Build GRCh38
|
| 6968332 |
c.778_785delTACCATCA |
p.Y260fs*1 |
Chr.18:
51058235-51058242
on Build GRCh38
|
| 6191677 |
c.777_777delT |
p.Y260fs*76 |
Chr.18:
51058234-51058234
on Build GRCh38
|
| 7409329 |
c.804G>T |
p.W268C |
Chr.18:
51058356-51058356
on Build GRCh38
|
| 48769 |
c.821C>A |
p.A274E |
Chr.18:
51058373-51058373
on Build GRCh38
|
| 5752741 |
c.784_785insAT |
p.N263fs*74 |
Chr.18:
51058241-51058242
on Build GRCh38
|
| 6438207 |
c.734_734delA |
p.Q245fs*91 |
Chr.18:
51058191-51058191
on Build GRCh38
|
| 5369897 |
c.747G>C |
p.Q249H |
Chr.18:
51058204-51058204
on Build GRCh38
|
| 14217 |
c.776_777delCT |
p.T259fs*4 |
Chr.18:
51058233-51058234
on Build GRCh38
|
| 6981675 |
c.862C>T |
p.L288F |
Chr.18:
51058414-51058414
on Build GRCh38
|
| 6476001 |
c.889C>T |
p.H297Y |
Chr.18:
51058441-51058441
on Build GRCh38
|
| 3772578 |
c.850C>T |
p.Q284* |
Chr.18:
51058402-51058402
on Build GRCh38
|
| 6465424 |
c.683T>A |
p.I228K |
Chr.18:
51058140-51058140
on Build GRCh38
|
| 6950708 |
c.880_883ATGC>GG |
p.M294fs*13 |
Chr.18:
51058432-51058435
on Build GRCh38
|
| 6940610 |
c.788-2A>T |
p.? |
Chr.18:
51058338-51058338
on Build GRCh38
|
| 5802155 |
c.785_786insAT |
p.H262fs*75 |
Chr.18:
51058242-51058243
on Build GRCh38
|
| 218558 |
c.742C>T |
p.Q248* |
Chr.18:
51058199-51058199
on Build GRCh38
|
| 6191376 |
c.754G>T |
p.G252* |
Chr.18:
51058211-51058211
on Build GRCh38
|
| 14185 |
c.676G>A |
p.A226T |
Chr.18:
51058133-51058133
on Build GRCh38
|
| 6475938 |
c.766C>A |
p.Q256K |
Chr.18:
51058223-51058223
on Build GRCh38
|
| 5001336 |
c.709_710insT |
p.L238fs*26 |
Chr.18:
51058166-51058167
on Build GRCh38
|
| 6475940 |
c.824C>T |
p.P275L |
Chr.18:
51058376-51058376
on Build GRCh38
|
| 4991169 |
c.823C>T |
p.P275S |
Chr.18:
51058375-51058375
on Build GRCh38
|
| 4593647 |
c.872A>C |
p.H291P |
Chr.18:
51058424-51058424
on Build GRCh38
|
| 22901 |
c.766C>T |
p.Q256* |
Chr.18:
51058223-51058223
on Build GRCh38
|
| 6784671 |
c.883C>T |
p.P295S |
Chr.18:
51058435-51058435
on Build GRCh38
|
| 6475987 |
c.856G>A |
p.G286S |
Chr.18:
51058408-51058408
on Build GRCh38
|
| 6975222 |
c.686_687insTG |
p.S232fs*10 |
Chr.18:
51058143-51058144
on Build GRCh38
|
| 7447204 |
c.873_877delCCCGC |
p.P292fs*14 |
Chr.18:
51058425-51058429
on Build GRCh38
|
| 5003428 |
c.748C>T |
p.Q250* |
Chr.18:
51058205-51058205
on Build GRCh38
|
| 6475983 |
c.678C>T |
p.A226A |
Chr.18:
51058135-51058135
on Build GRCh38
|
| 6965514 |
c.817A>T |
p.T273S |
Chr.18:
51058369-51058369
on Build GRCh38
|
| 1734655 |
c.683_684insT |
p.L229fs*6 |
Chr.18:
51058140-51058141
on Build GRCh38
|
| 7449767 |
c.677delC |
p.S227fs*14 |
Chr.18:
51058134-51058134
on Build GRCh38
|
| 30783 |
c.740G>A |
p.G247E |
Chr.18:
51058197-51058197
on Build GRCh38
|
| 6475985 |
c.794C>T |
p.T265I |
Chr.18:
51058346-51058346
on Build GRCh38
|
| 563754 |
c.725C>G |
p.S242* |
Chr.18:
51058182-51058182
on Build GRCh38
|
| 85607 |
c.804delG |
p.W268fs*1 |
Chr.18:
51058356-51058356
on Build GRCh38
|
| 6980778 |
c.857_866del10 |
p.H287fs*46 |
Chr.18:
51058409-51058418
on Build GRCh38
|
| 6475995 |
c.803G>T |
p.W268L |
Chr.18:
51058355-51058355
on Build GRCh38
|
| 1389042 |
c.687delG |
p.G231fs*10 |
Chr.18:
51058144-51058144
on Build GRCh38
|
| 1158484 |
c.692_693insC |
p.S232fs*3 |
Chr.18:
51058149-51058150
on Build GRCh38
|
| 85615 |
c.692_693insG |
p.S232fs*3 |
Chr.18:
51058149-51058150
on Build GRCh38
|
| 5610592 |
c.855C>T |
p.N285N |
Chr.18:
51058407-51058407
on Build GRCh38
|
| 6911443 |
c.746_747AG>CC |
p.Q249P |
Chr.18:
51058203-51058204
on Build GRCh38
|
| 6947910 |
c.879_901del23 |
p.M294fs*6 |
Chr.18:
51058431-51058453
on Build GRCh38
|
| 6932659 |
c.827_830delACAC |
p.T277fs*58 |
Chr.18:
51058379-51058382
on Build GRCh38
|
| 6948180 |
c.733C>A |
p.Q245K |
Chr.18:
51058190-51058190
on Build GRCh38
|
| 6913162 |
c.731C>A |
p.P244H |
Chr.18:
51058188-51058188
on Build GRCh38
|
| 6008357 |
c.875C>T |
p.P292L |
Chr.18:
51058427-51058427
on Build GRCh38
|
| 14120 |
c.806_807insT |
p.G270fs*3 |
Chr.18:
51058358-51058359
on Build GRCh38
|
| 48899 |
c.828C>A |
p.Y276* |
Chr.18:
51058380-51058380
on Build GRCh38
|
| 2879555 |
c.764G>C |
p.G255A |
Chr.18:
51058221-51058221
on Build GRCh38
|
| 6475928 |
c.892C>T |
p.P298S |
Chr.18:
51058444-51058444
on Build GRCh38
|
| 3787510 |
c.780C>A |
p.Y260* |
Chr.18:
51058237-51058237
on Build GRCh38
|
| 85616 |
c.778_779insT |
p.Y260fs*4 |
Chr.18:
51058235-51058236
on Build GRCh38
|
| 6475960 |
c.801C>T |
p.T267T |
Chr.18:
51058353-51058353
on Build GRCh38
|
| 6465423 |
c.683T>C |
p.I228T |
Chr.18:
51058140-51058140
on Build GRCh38
|
| 5369723 |
c.727delG |
p.P244fs*92 |
Chr.18:
51058184-51058184
on Build GRCh38
|
| 6784688 |
c.803G>A |
p.W268* |
Chr.18:
51058355-51058355
on Build GRCh38
|
| 1226728 |
c.737C>G |
p.P246R |
Chr.18:
51058194-51058194
on Build GRCh38
|
| 5854242 |
c.884C>A |
p.P295Q |
Chr.18:
51058436-51058436
on Build GRCh38
|
| 709387 |
c.865C>T |
p.Q289* |
Chr.18:
51058417-51058417
on Build GRCh38
|
| 1226730 |
c.895G>A |
p.G299R |
Chr.18:
51058447-51058447
on Build GRCh38
|
| 14186 |
c.788A>G |
p.N263S |
Chr.18:
51058340-51058340
on Build GRCh38
|
| 6475939 |
c.816G>T |
p.R272S |
Chr.18:
51058368-51058368
on Build GRCh38
|
| 6942409 |
c.780delC |
p.H261fs*75 |
Chr.18:
51058237-51058237
on Build GRCh38
|
| 14161 |
c.715C>T |
p.Q239* |
Chr.18:
51058172-51058172
on Build GRCh38
|
| 7412661 |
c.702_703insT |
p.E235fs*1 |
Chr.18:
51058159-51058160
on Build GRCh38
|
| 6438213 |
c.747G>T |
p.Q249H |
Chr.18:
51058204-51058204
on Build GRCh38
|
| 988904 |
c.884C>T |
p.P295L |
Chr.18:
51058436-51058436
on Build GRCh38
|
| 1640994 |
c.757_758delTT |
p.F253fs*10 |
Chr.18:
51058214-51058215
on Build GRCh38
|
| 3959248 |
c.690G>T |
p.G230G |
Chr.18:
51058147-51058147
on Build GRCh38
|
| 5766008 |
c.860A>G |
p.H287R |
Chr.18:
51058412-51058412
on Build GRCh38
|