| 6957607 |
c.308A>C |
p.D103A |
Chr.18:
51048744-51048744
on Build GRCh38
|
| 14104 |
c.1_*del |
p.0 |
Chr.18:
51047047-51078467
on Build GRCh38
|
| 4382624 |
c.290G>A |
p.R97H |
Chr.18:
51048726-51048726
on Build GRCh38
|
| 7430437 |
c.402A>T |
p.E134D |
Chr.18:
51048838-51048838
on Build GRCh38
|
| 5521010 |
c.275A>T |
p.H92L |
Chr.18:
51048711-51048711
on Build GRCh38
|
| 6950354 |
c.285T>G |
p.Y95* |
Chr.18:
51048721-51048721
on Build GRCh38
|
| 7325392 |
c.379T>G |
p.C127G |
Chr.18:
51048815-51048815
on Build GRCh38
|
| 5490658 |
c.392A>C |
p.Y131S |
Chr.18:
51048828-51048828
on Build GRCh38
|
| 85606 |
c.314_317delACAA |
p.H105fs*4 |
Chr.18:
51048750-51048753
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
|
| 6911183 |
c.297G>T |
p.W99C |
Chr.18:
51048733-51048733
on Build GRCh38
|
| 3692225 |
c.344G>A |
p.C115Y |
Chr.18:
51048780-51048780
on Build GRCh38
|
| 5610595 |
c.419G>A |
p.G140E |
Chr.18:
51048855-51048855
on Build GRCh38
|
| 1480368 |
c.326T>G |
p.L109R |
Chr.18:
51048762-51048762
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
|
| 3772574 |
c.424+1G>A |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 6934299 |
c.336_337delTA |
p.K113fs*7 |
Chr.18:
51048772-51048773
on Build GRCh38
|
| 6973048 |
c.303G>T |
p.W101C |
Chr.18:
51048739-51048739
on Build GRCh38
|
| 14117 |
c.343T>C |
p.C115R |
Chr.18:
51048779-51048779
on Build GRCh38
|
| 6950292 |
c.325_326delCT |
p.L109fs*4 |
Chr.18:
51048761-51048762
on Build GRCh38
|
| 4830946 |
c.274C>T |
p.H92Y |
Chr.18:
51048710-51048710
on Build GRCh38
|
| 2879546 |
c.394C>T |
p.H132Y |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 1163670 |
c.275delA |
p.H92fs*2 |
Chr.18:
51048711-51048711
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
|
| 5141196 |
c.349T>C |
p.Y117H |
Chr.18:
51048785-51048785
on Build GRCh38
|
| 1226731 |
c.322G>T |
p.E108* |
Chr.18:
51048758-51048758
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
|
| 7416528 |
c.359A>G |
p.D120G |
Chr.18:
51048795-51048795
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
|
| 6908889 |
c.272C>T |
p.P91L |
Chr.18:
51048708-51048708
on Build GRCh38
|
| 1303772 |
c.397T>A |
p.Y133N |
Chr.18:
51048833-51048833
on Build GRCh38
|
| 6926420 |
c.315_316insA |
p.N107fs*2 |
Chr.18:
51048751-51048752
on Build GRCh38
|
| 6960144 |
c.377T>C |
p.V126A |
Chr.18:
51048813-51048813
on Build GRCh38
|
| 84441 |
c.392A>G |
p.Y131C |
Chr.18:
51048828-51048828
on Build GRCh38
|
| 189730 |
c.400G>A |
p.E134K |
Chr.18:
51048836-51048836
on Build GRCh38
|
| 14107 |
c.353C>A |
p.A118E |
Chr.18:
51048789-51048789
on Build GRCh38
|
| 5196465 |
c.326T>G |
p.L109R |
Chr.18:
51048762-51048762
on Build GRCh38
|
| 4728223 |
c.400G>A |
p.E134K |
Chr.18:
51048836-51048836
on Build GRCh38
|
| 25274 |
c.366_367insA |
p.C123fs*2 |
Chr.18:
51048802-51048803
on Build GRCh38
|
| 5951343 |
c.327delA |
p.K110fs*12 |
Chr.18:
51048763-51048763
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
|
| 14215 |
c.353C>T |
p.A118V |
Chr.18:
51048789-51048789
on Build GRCh38
|
| 6972176 |
c.284A>G |
p.Y95C |
Chr.18:
51048720-51048720
on Build GRCh38
|
| 5680579 |
c.317A>G |
p.K106R |
Chr.18:
51048753-51048753
on Build GRCh38
|
| 6979128 |
c.301T>A |
p.W101R |
Chr.18:
51048737-51048737
on Build GRCh38
|
| 308154 |
c.394C>A |
p.H132N |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 7325426 |
c.302G>A |
p.W101* |
Chr.18:
51048738-51048738
on Build GRCh38
|
| 6908890 |
c.272C>T |
p.P91L |
Chr.18:
51048708-51048708
on Build GRCh38
|
| 4999420 |
c.292C>T |
p.L98F |
Chr.18:
51048728-51048728
on Build GRCh38
|
| 6475935 |
c.358G>T |
p.D120Y |
Chr.18:
51048794-51048794
on Build GRCh38
|
| 3388462 |
c.379T>A |
p.C127S |
Chr.18:
51048815-51048815
on Build GRCh38
|
| 6972561 |
c.424+1G>T |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 6957606 |
c.308A>C |
p.D103A |
Chr.18:
51048744-51048744
on Build GRCh38
|
| 4830947 |
c.274C>T |
p.H92Y |
Chr.18:
51048710-51048710
on Build GRCh38
|
| 6345575 |
c.409G>T |
p.V137L |
Chr.18:
51048845-51048845
on Build GRCh38
|
| 6475962 |
c.322G>C |
p.E108Q |
Chr.18:
51048758-51048758
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
|
| 4728219 |
c.354G>A |
p.A118A |
Chr.18:
51048790-51048790
on Build GRCh38
|
| 6475976 |
c.307G>A |
p.D103N |
Chr.18:
51048743-51048743
on Build GRCh38
|
| 6950293 |
c.325_326delCT |
p.L109fs*4 |
Chr.18:
51048761-51048762
on Build GRCh38
|
| 6979129 |
c.301T>A |
p.W101R |
Chr.18:
51048737-51048737
on Build GRCh38
|
| 6973047 |
c.303G>T |
p.W101C |
Chr.18:
51048739-51048739
on Build GRCh38
|
| 6842407 |
c.364A>T |
p.K122* |
Chr.18:
51048800-51048800
on Build GRCh38
|
| 6475934 |
c.358G>T |
p.D120Y |
Chr.18:
51048794-51048794
on Build GRCh38
|
| 7416527 |
c.359A>G |
p.D120G |
Chr.18:
51048795-51048795
on Build GRCh38
|
| 6942195 |
c.386A>G |
p.N129S |
Chr.18:
51048822-51048822
on Build GRCh38
|
| 6475975 |
c.307G>A |
p.D103N |
Chr.18:
51048743-51048743
on Build GRCh38
|
| 6939670 |
c.344G>C |
p.C115S |
Chr.18:
51048780-51048780
on Build GRCh38
|
| 14229 |
c.377T>C |
p.V126A |
Chr.18:
51048813-51048813
on Build GRCh38
|
| 1151796 |
c.292C>T |
p.L98F |
Chr.18:
51048728-51048728
on Build GRCh38
|
| 84440 |
c.346C>T |
p.Q116* |
Chr.18:
51048782-51048782
on Build GRCh38
|
| 6957809 |
c.300G>T |
p.R100S |
Chr.18:
51048736-51048736
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
|
| 5154691 |
c.344G>A |
p.C115Y |
Chr.18:
51048780-51048780
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
|
| 7447216 |
c.326_327insA |
p.H111fs*3 |
Chr.18:
51048762-51048763
on Build GRCh38
|
| 5753285 |
c.413C>A |
p.S138* |
Chr.18:
51048849-51048849
on Build GRCh38
|
| 5680578 |
c.317A>G |
p.K106R |
Chr.18:
51048753-51048753
on Build GRCh38
|
| 85614 |
c.320_321insA |
p.N107fs*2 |
Chr.18:
51048756-51048757
on Build GRCh38
|
| 4807836 |
c.322G>T |
p.E108* |
Chr.18:
51048758-51048758
on Build GRCh38
|
| 5610596 |
c.419G>A |
p.G140E |
Chr.18:
51048855-51048855
on Build GRCh38
|
| 6911182 |
c.297G>T |
p.W99C |
Chr.18:
51048733-51048733
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
|
| 4998151 |
c.377T>G |
p.V126G |
Chr.18:
51048813-51048813
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
|
| 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
|
| 5951342 |
c.327delA |
p.K110fs*12 |
Chr.18:
51048763-51048763
on Build GRCh38
|
| 14219 |
c.295T>C |
p.W99R |
Chr.18:
51048731-51048731
on Build GRCh38
|
| 4389337 |
c.385A>G |
p.N129D |
Chr.18:
51048821-51048821
on Build GRCh38
|
| 5075165 |
c.310C>T |
p.L104F |
Chr.18:
51048746-51048746
on Build GRCh38
|
| 6438216 |
c.385A>T |
p.N129Y |
Chr.18:
51048821-51048821
on Build GRCh38
|
| 6475974 |
c.289C>A |
p.R97S |
Chr.18:
51048725-51048725
on Build GRCh38
|
| 5500796 |
c.396C>G |
p.H132Q |
Chr.18:
51048832-51048832
on Build GRCh38
|
| 7447184 |
c.329A>G |
p.K110R |
Chr.18:
51048765-51048765
on Build GRCh38
|
| 6475963 |
c.322G>C |
p.E108Q |
Chr.18:
51048758-51048758
on Build GRCh38
|
| 6939671 |
c.344G>C |
p.C115S |
Chr.18:
51048780-51048780
on Build GRCh38
|
| 6475973 |
c.289C>A |
p.R97S |
Chr.18:
51048725-51048725
on Build GRCh38
|
| 6938855 |
c.311T>A |
p.L104H |
Chr.18:
51048747-51048747
on Build GRCh38
|
| 1266193 |
c.296G>A |
p.W99* |
Chr.18:
51048732-51048732
on Build GRCh38
|
| 14088 |
c.305C>T |
p.P102L |
Chr.18:
51048741-51048741
on Build GRCh38
|
| 84439 |
c.284A>C |
p.Y95S |
Chr.18:
51048720-51048720
on Build GRCh38
|
| 4388888 |
c.353C>T |
p.A118V |
Chr.18:
51048789-51048789
on Build GRCh38
|
| 5521009 |
c.275A>T |
p.H92L |
Chr.18:
51048711-51048711
on Build GRCh38
|
| 7325427 |
c.302G>A |
p.W101* |
Chr.18:
51048738-51048738
on Build GRCh38
|
| 5500797 |
c.396C>G |
p.H132Q |
Chr.18:
51048832-51048832
on Build GRCh38
|
| 6918159 |
c.283T>C |
p.Y95H |
Chr.18:
51048719-51048719
on Build GRCh38
|
| 1389032 |
c.349T>C |
p.Y117H |
Chr.18:
51048785-51048785
on Build GRCh38
|
| 14210 |
c.382G>A |
p.V128M |
Chr.18:
51048818-51048818
on Build GRCh38
|
| 14149 |
c.299G>C |
p.R100T |
Chr.18:
51048735-51048735
on Build GRCh38
|
| 265463 |
c.310C>T |
p.L104F |
Chr.18:
51048746-51048746
on Build GRCh38
|
| 6196686 |
c.394C>G |
p.H132D |
Chr.18:
51048830-51048830
on Build GRCh38
|
| 6149422 |
c.298A>T |
p.R100W |
Chr.18:
51048734-51048734
on Build GRCh38
|
| 5256678 |
c.284A>G |
p.Y95C |
Chr.18:
51048720-51048720
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
|
| 4728220 |
c.354G>A |
p.A118A |
Chr.18:
51048790-51048790
on Build GRCh38
|
| 1168851 |
c.383_384insA |
p.N129fs*14 |
Chr.18:
51048819-51048820
on Build GRCh38
|
| 6918158 |
c.283T>C |
p.Y95H |
Chr.18:
51048719-51048719
on Build GRCh38
|
| 6934300 |
c.336_337delTA |
p.K113fs*7 |
Chr.18:
51048772-51048773
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
|
| 6972560 |
c.424+1G>T |
p.? |
Chr.18:
51048861-51048861
on Build GRCh38
|
| 1151400 |
c.298A>G |
p.R100G |
Chr.18:
51048734-51048734
on Build GRCh38
|
| 4965459 |
c.380G>T |
p.C127F |
Chr.18:
51048816-51048816
on Build GRCh38
|
| 6926421 |
c.315_316insA |
p.N107fs*2 |
Chr.18:
51048751-51048752
on Build GRCh38
|
| 14218 |
c.318_319insA |
p.N107fs*2 |
Chr.18:
51048754-51048755
on Build GRCh38
|
| 6957808 |
c.300G>T |
p.R100S |
Chr.18:
51048736-51048736
on Build GRCh38
|
| 6950353 |
c.285T>G |
p.Y95* |
Chr.18:
51048721-51048721
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
|
| 6943551 |
c.346C>T |
p.Q116* |
Chr.18:
51048782-51048782
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
|
| 6938856 |
c.311T>A |
p.L104H |
Chr.18:
51048747-51048747
on Build GRCh38
|
| 14093 |
c.283T>A |
p.Y95N |
Chr.18:
51048719-51048719
on Build GRCh38
|
| 6149421 |
c.298A>T |
p.R100W |
Chr.18:
51048734-51048734
on Build GRCh38
|
| 291721 |
c.290G>A |
p.R97H |
Chr.18:
51048726-51048726
on Build GRCh38
|