| 14104 |
c.1_*del |
p.0 |
Chr.18:
51047047-51078467
on Build GRCh38
|
| 7430437 |
c.402A>T |
p.E134D |
Chr.18:
51048838-51048838
on Build GRCh38
|
| 4389338 |
c.385A>G |
p.N129D |
Chr.18:
51048821-51048821
on Build GRCh38
|
| 14168 |
c.403C>T |
p.R135* |
Chr.18:
51048839-51048839
on Build GRCh38
|
| 7325392 |
c.379T>G |
p.C127G |
Chr.18:
51048815-51048815
on Build GRCh38
|
| 6923756 |
c.383T>C |
p.V128A |
Chr.18:
51048819-51048819
on Build GRCh38
|
| 6955713 |
c.389C>T |
p.P130L |
Chr.18:
51048825-51048825
on Build GRCh38
|
| 5490658 |
c.392A>C |
p.Y131S |
Chr.18:
51048828-51048828
on Build GRCh38
|
| 5753285 |
c.413C>A |
p.S138* |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 6056964 |
c.382G>T |
p.V128L |
Chr.18:
51048818-51048818
on Build GRCh38
|
| 14216 |
c.363_364insA |
p.C123fs*2 |
Chr.18:
51048799-51048800
on Build GRCh38
|
| 5610596 |
c.419G>A |
p.G140E |
Chr.18:
51048855-51048855
on Build GRCh38
|
| 6859900 |
c.394C>G |
p.H132D |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 4728222 |
c.370G>T |
p.D124Y |
Chr.18:
51048806-51048806
on Build GRCh38
|
| 5610595 |
c.419G>A |
p.G140E |
Chr.18:
51048855-51048855
on Build GRCh38
|
| 4998151 |
c.377T>G |
p.V126G |
Chr.18:
51048813-51048813
on Build GRCh38
|
| 6977099 |
c.388C>T |
p.P130S |
Chr.18:
51048824-51048824
on Build GRCh38
|
| 6053946 |
c.413C>G |
p.S138* |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 6934606 |
c.364A>T |
p.K122* |
Chr.18:
51048800-51048800
on Build GRCh38
|
| 3723638 |
c.403C>T |
p.R135* |
Chr.18:
51048839-51048839
on Build GRCh38
|
| 6056963 |
c.382G>T |
p.V128L |
Chr.18:
51048818-51048818
on Build GRCh38
|
| 3772574 |
c.424+1G>A |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 6345576 |
c.409G>T |
p.V137L |
Chr.18:
51048845-51048845
on Build GRCh38
|
| 33139 |
c.388C>T |
p.P130S |
Chr.18:
51048824-51048824
on Build GRCh38
|
| 2879546 |
c.394C>T |
p.H132Y |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 4389337 |
c.385A>G |
p.N129D |
Chr.18:
51048821-51048821
on Build GRCh38
|
| 6438216 |
c.385A>T |
p.N129Y |
Chr.18:
51048821-51048821
on Build GRCh38
|
| 6475977 |
c.404G>T |
p.R135L |
Chr.18:
51048840-51048840
on Build GRCh38
|
| 4728221 |
c.370G>T |
p.D124Y |
Chr.18:
51048806-51048806
on Build GRCh38
|
| 5500796 |
c.396C>G |
p.H132Q |
Chr.18:
51048832-51048832
on Build GRCh38
|
| 6475978 |
c.404G>T |
p.R135L |
Chr.18:
51048840-51048840
on Build GRCh38
|
| 14092 |
c.387T>G |
p.N129K |
Chr.18:
51048823-51048823
on Build GRCh38
|
| 3772575 |
c.424+1G>A |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 4998150 |
c.377T>G |
p.V126G |
Chr.18:
51048813-51048813
on Build GRCh38
|
| 5490657 |
c.392A>C |
p.Y131S |
Chr.18:
51048828-51048828
on Build GRCh38
|
| 14139 |
c.395A>T |
p.H132L |
Chr.18:
51048831-51048831
on Build GRCh38
|
| 6977441 |
c.366_378>TGT |
p.K122fs*4 |
Chr.18:
51048802-51048814
on Build GRCh38
|
| 1303772 |
c.397T>A |
p.Y133N |
Chr.18:
51048833-51048833
on Build GRCh38
|
| 6960144 |
c.377T>C |
p.V126A |
Chr.18:
51048813-51048813
on Build GRCh38
|
| 189730 |
c.400G>A |
p.E134K |
Chr.18:
51048836-51048836
on Build GRCh38
|
| 84441 |
c.392A>G |
p.Y131C |
Chr.18:
51048828-51048828
on Build GRCh38
|
| 5500797 |
c.396C>G |
p.H132Q |
Chr.18:
51048832-51048832
on Build GRCh38
|
| 4728223 |
c.400G>A |
p.E134K |
Chr.18:
51048836-51048836
on Build GRCh38
|
| 14210 |
c.382G>A |
p.V128M |
Chr.18:
51048818-51048818
on Build GRCh38
|
| 25274 |
c.366_367insA |
p.C123fs*2 |
Chr.18:
51048802-51048803
on Build GRCh38
|
| 308305 |
c.404G>A |
p.R135Q |
Chr.18:
51048840-51048840
on Build GRCh38
|
| 6923757 |
c.383T>C |
p.V128A |
Chr.18:
51048819-51048819
on Build GRCh38
|
| 6196686 |
c.394C>G |
p.H132D |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 7325391 |
c.379T>G |
p.C127G |
Chr.18:
51048815-51048815
on Build GRCh38
|
| 6962192 |
c.413C>G |
p.S138* |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 308154 |
c.394C>A |
p.H132N |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 1168851 |
c.383_384insA |
p.N129fs*14 |
Chr.18:
51048819-51048820
on Build GRCh38
|
| 5753284 |
c.413C>A |
p.S138* |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 6977442 |
c.366_378>TGT |
p.K122fs*4 |
Chr.18:
51048802-51048814
on Build GRCh38
|
| 3388462 |
c.379T>A |
p.C127S |
Chr.18:
51048815-51048815
on Build GRCh38
|
| 6972560 |
c.424+1G>T |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 4965459 |
c.380G>T |
p.C127F |
Chr.18:
51048816-51048816
on Build GRCh38
|
| 6972561 |
c.424+1G>T |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 6345575 |
c.409G>T |
p.V137L |
Chr.18:
51048845-51048845
on Build GRCh38
|
| 4965460 |
c.380G>T |
p.C127F |
Chr.18:
51048816-51048816
on Build GRCh38
|
| 6438206 |
c.413C>T |
p.S138L |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 3821565 |
c.394C>T |
p.H132Y |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 218557 |
c.389C>T |
p.P130L |
Chr.18:
51048825-51048825
on Build GRCh38
|
| 7430436 |
c.402A>T |
p.E134D |
Chr.18:
51048838-51048838
on Build GRCh38
|
| 6942194 |
c.386A>G |
p.N129S |
Chr.18:
51048822-51048822
on Build GRCh38
|
| 7112546 |
c.397T>A |
p.Y133N |
Chr.18:
51048833-51048833
on Build GRCh38
|
| 6842407 |
c.364A>T |
p.K122* |
Chr.18:
51048800-51048800
on Build GRCh38
|
| 6942195 |
c.386A>G |
p.N129S |
Chr.18:
51048822-51048822
on Build GRCh38
|
| 14229 |
c.377T>C |
p.V126A |
Chr.18:
51048813-51048813
on Build GRCh38
|