6968371 |
c.375_398>C |
p.G127fs*265 |
Chr.1:
26696778-26696801
on Build GRCh38
|
3771708 |
c.687C>A |
p.Y229* |
Chr.1:
26697090-26697090
on Build GRCh38
|
6031627 |
c.492C>G |
p.A164A |
Chr.1:
26696895-26696895
on Build GRCh38
|
6961190 |
c.367G>T |
p.G123C |
Chr.1:
26696770-26696770
on Build GRCh38
|
7345042 |
c.623_624insA |
p.N209fs*191 |
Chr.1:
26697026-26697027
on Build GRCh38
|
5347065 |
c.359C>G |
p.P120R |
Chr.1:
26696762-26696762
on Build GRCh38
|
6964803 |
c.306_335del30 |
p.S103_A112del10 |
Chr.1:
26696709-26696738
on Build GRCh38
|
6035010 |
c.680C>A |
p.P227Q |
Chr.1:
26697083-26697083
on Build GRCh38
|
1602134 |
c.666delC |
p.P224fs*8 |
Chr.1:
26697069-26697069
on Build GRCh38
|
6212396 |
c.710G>T |
p.G237V |
Chr.1:
26697113-26697113
on Build GRCh38
|
4031000 |
c.526C>T |
p.Q176* |
Chr.1:
26696929-26696929
on Build GRCh38
|
4663215 |
c.544G>A |
p.A182T |
Chr.1:
26696947-26696947
on Build GRCh38
|
5990632 |
c.392G>A |
p.G131E |
Chr.1:
26696795-26696795
on Build GRCh38
|
6909930 |
c.665_666insC |
p.P225fs*175 |
Chr.1:
26697068-26697069
on Build GRCh38
|
6911977 |
c.758C>T |
p.P253L |
Chr.1:
26697161-26697161
on Build GRCh38
|
6929275 |
c.490G>A |
p.A164T |
Chr.1:
26696893-26696893
on Build GRCh38
|
5752476 |
c.537_546del10 |
p.G180fs*49 |
Chr.1:
26696940-26696949
on Build GRCh38
|
6949796 |
c.326C>T |
p.P109L |
Chr.1:
26696729-26696729
on Build GRCh38
|
4949633 |
c.732_744del13 |
p.A245fs*114 |
Chr.1:
26697135-26697147
on Build GRCh38
|
6975274 |
c.388delG |
p.D130fs*102 |
Chr.1:
26696791-26696791
on Build GRCh38
|
51214 |
c.553C>T |
p.Q185* |
Chr.1:
26696956-26696956
on Build GRCh38
|
6935094 |
c.485_492delCCGCCGCC |
p.A162fs*235 |
Chr.1:
26696888-26696895
on Build GRCh38
|
1639807 |
c.490_497delGCCGCGGC |
p.A164fs*233 |
Chr.1:
26696893-26696900
on Build GRCh38
|
6921483 |
c.733G>T |
p.A245S |
Chr.1:
26697136-26697136
on Build GRCh38
|
6926084 |
c.418G>A |
p.A140T |
Chr.1:
26696821-26696821
on Build GRCh38
|
1341387 |
c.607_608insA |
p.H203fs*197 |
Chr.1:
26697010-26697011
on Build GRCh38
|
6949067 |
c.752C>T |
p.P251L |
Chr.1:
26697155-26697155
on Build GRCh38
|
4170634 |
c.646T>C |
p.Y216H |
Chr.1:
26697049-26697049
on Build GRCh38
|
5347034 |
c.356A>G |
p.E119G |
Chr.1:
26696759-26696759
on Build GRCh38
|
5347122 |
c.355G>T |
p.E119* |
Chr.1:
26696758-26696758
on Build GRCh38
|
6955473 |
c.325_338del14 |
p.P109fs*3 |
Chr.1:
26696728-26696741
on Build GRCh38
|
6906960 |
c.510delC |
p.Q171fs*61 |
Chr.1:
26696913-26696913
on Build GRCh38
|
6923557 |
c.659_663delGCGCC |
p.S220fs*178 |
Chr.1:
26697062-26697066
on Build GRCh38
|
6031626 |
c.457C>G |
p.P153A |
Chr.1:
26696860-26696860
on Build GRCh38
|
7345041 |
c.563_564insC |
p.G189fs*211 |
Chr.1:
26696966-26696967
on Build GRCh38
|
6910253 |
c.318_335>A |
p.N106fs*5 |
Chr.1:
26696721-26696738
on Build GRCh38
|
3771707 |
c.532A>T |
p.S178C |
Chr.1:
26696935-26696935
on Build GRCh38
|
6941534 |
c.326C>A |
p.P109H |
Chr.1:
26696729-26696729
on Build GRCh38
|
6955920 |
c.739_740insCCGGCTC |
p.K250fs*152 |
Chr.1:
26697142-26697143
on Build GRCh38
|
6031804 |
c.606T>G |
p.S202S |
Chr.1:
26697009-26697009
on Build GRCh38
|
6911019 |
c.323_333del11 |
p.R110fs*3 |
Chr.1:
26696726-26696736
on Build GRCh38
|
51487 |
c.734_747del14 |
p.A245fs*150 |
Chr.1:
26697137-26697150
on Build GRCh38
|
6935671 |
c.722C>T |
p.S241F |
Chr.1:
26697125-26697125
on Build GRCh38
|
6967022 |
c.728C>G |
p.A243G |
Chr.1:
26697131-26697131
on Build GRCh38
|
5948372 |
c.645C>G |
p.Y215* |
Chr.1:
26697048-26697048
on Build GRCh38
|
1602133 |
c.318_330del13 |
p.A107fs*3 |
Chr.1:
26696721-26696733
on Build GRCh38
|
6926476 |
c.752_756delCGCCT |
p.P252fs*146 |
Chr.1:
26697155-26697159
on Build GRCh38
|
6604546 |
c.488C>T |
p.A163V |
Chr.1:
26696891-26696891
on Build GRCh38
|
6930776 |
c.635_636AC>TGT |
p.Y212fs*2 |
Chr.1:
26697038-26697039
on Build GRCh38
|
6853297 |
c.742G>C |
p.G248R |
Chr.1:
26697145-26697145
on Build GRCh38
|
4988534 |
c.358C>T |
p.P120S |
Chr.1:
26696761-26696761
on Build GRCh38
|
6950680 |
c.466_467insA |
p.R156fs*244 |
Chr.1:
26696869-26696870
on Build GRCh38
|
5990631 |
c.386G>A |
p.S129N |
Chr.1:
26696789-26696789
on Build GRCh38
|
1236665 |
c.753_763del11 |
p.P252fs*144 |
Chr.1:
26697156-26697166
on Build GRCh38
|
4169920 |
c.598C>T |
p.Q200* |
Chr.1:
26697001-26697001
on Build GRCh38
|
6949760 |
c.782C>G |
p.S261W |
Chr.1:
26697185-26697185
on Build GRCh38
|
6934519 |
c.409C>T |
p.H137Y |
Chr.1:
26696812-26696812
on Build GRCh38
|
5878499 |
c.359_372del14 |
p.P120fs*275 |
Chr.1:
26696762-26696775
on Build GRCh38
|
7001326 |
c.506_507insGAGGAACC |
p.F169fs*66 |
Chr.1:
26696909-26696910
on Build GRCh38
|
6975190 |
c.518A>G |
p.H173R |
Chr.1:
26696921-26696921
on Build GRCh38
|
6946806 |
c.680_686delCGGCCTA |
p.A228fs*2 |
Chr.1:
26697083-26697089
on Build GRCh38
|
6912862 |
c.326C>G |
p.P109R |
Chr.1:
26696729-26696729
on Build GRCh38
|
6983204 |
c.577G>T |
p.E193* |
Chr.1:
26696980-26696980
on Build GRCh38
|
5508250 |
c.702G>A |
p.P234P |
Chr.1:
26697105-26697105
on Build GRCh38
|
6937112 |
c.458C>T |
p.P153L |
Chr.1:
26696861-26696861
on Build GRCh38
|
1341386 |
c.540C>T |
p.G180G |
Chr.1:
26696943-26696943
on Build GRCh38
|
51225 |
c.486_492delCGCCGCC |
p.A163fs*67 |
Chr.1:
26696889-26696895
on Build GRCh38
|
6974293 |
c.591_592insC |
p.Q199fs*201 |
Chr.1:
26696994-26696995
on Build GRCh38
|
6045160 |
c.305A>G |
p.N102S |
Chr.1:
26696708-26696708
on Build GRCh38
|
4170633 |
c.641C>T |
p.S214F |
Chr.1:
26697044-26697044
on Build GRCh38
|
6965404 |
c.348_439del92 |
p.T118fs*251 |
Chr.1:
26696751-26696842
on Build GRCh38
|
51415 |
c.404_404delC |
p.P135fs*97 |
Chr.1:
26696807-26696807
on Build GRCh38
|
6908657 |
c.413C>G |
p.S138* |
Chr.1:
26696816-26696816
on Build GRCh38
|
6962706 |
c.743_744ins11 |
p.S255fs*112 |
Chr.1:
26697146-26697147
on Build GRCh38
|
5963216 |
c.583T>C |
p.Y195H |
Chr.1:
26696986-26696986
on Build GRCh38
|
4951278 |
c.320_329del10 |
p.A107fs*4 |
Chr.1:
26696723-26696732
on Build GRCh38
|
7345040 |
c.482_483insCGC |
p.A167_V168insA |
Chr.1:
26696885-26696886
on Build GRCh38
|
6977191 |
c.624_625insA |
p.N209fs*191 |
Chr.1:
26697027-26697028
on Build GRCh38
|
51233 |
c.782_791del10 |
p.S261fs*99 |
Chr.1:
26697185-26697194
on Build GRCh38
|
251420 |
c.487G>A |
p.A163T |
Chr.1:
26696890-26696890
on Build GRCh38
|
6031803 |
c.588G>C |
p.A196A |
Chr.1:
26696991-26696991
on Build GRCh38
|
6977444 |
c.603_604delCT |
p.H203fs*196 |
Chr.1:
26697006-26697007
on Build GRCh38
|
7340771 |
c.694_709del16 |
p.S232fs*126 |
Chr.1:
26697097-26697112
on Build GRCh38
|
1602132 |
c.309_321del13 |
p.N104fs*6 |
Chr.1:
26696712-26696724
on Build GRCh38
|
5949788 |
c.751C>T |
p.P251S |
Chr.1:
26697154-26697154
on Build GRCh38
|
5622689 |
c.791C>A |
p.S264* |
Chr.1:
26697194-26697194
on Build GRCh38
|
4143735 |
c.516A>C |
p.Q172H |
Chr.1:
26696919-26696919
on Build GRCh38
|
6948039 |
c.395_396insG |
p.A134fs*266 |
Chr.1:
26696798-26696799
on Build GRCh38
|
6964276 |
c.507delC |
p.H170fs*62 |
Chr.1:
26696910-26696910
on Build GRCh38
|
1744856 |
c.649_653delCCCAA |
p.N218fs*180 |
Chr.1:
26697052-26697056
on Build GRCh38
|
6936516 |
c.675_676CG>T |
p.A226fs*6 |
Chr.1:
26697078-26697079
on Build GRCh38
|
251352 |
c.315_334del20 |
p.N106fs*4 |
Chr.1:
26696718-26696737
on Build GRCh38
|
7343495 |
c.460T>C |
p.Y154H |
Chr.1:
26696863-26696863
on Build GRCh38
|
4771936 |
c.360_367delGCCCGGCG |
p.P121fs*276 |
Chr.1:
26696763-26696770
on Build GRCh38
|
51216 |
c.585C>A |
p.Y195* |
Chr.1:
26696988-26696988
on Build GRCh38
|
6208029 |
c.698delC |
p.P234fs*129 |
Chr.1:
26697101-26697101
on Build GRCh38
|
4949624 |
c.622C>T |
p.P208S |
Chr.1:
26697025-26697025
on Build GRCh38
|
6909395 |
c.722C>G |
p.S241C |
Chr.1:
26697125-26697125
on Build GRCh38
|
6952545 |
c.486_487delCG |
p.A163fs*236 |
Chr.1:
26696889-26696890
on Build GRCh38
|
6042185 |
c.419C>T |
p.A140V |
Chr.1:
26696822-26696822
on Build GRCh38
|
4809210 |
c.647A>C |
p.Y216S |
Chr.1:
26697050-26697050
on Build GRCh38
|
6350248 |
c.454C>T |
p.Q152* |
Chr.1:
26696857-26696857
on Build GRCh38
|
51482 |
c.470_486del17 |
p.P158fs*236 |
Chr.1:
26696873-26696889
on Build GRCh38
|
6969699 |
c.573_592del20 |
p.L192fs*201 |
Chr.1:
26696976-26696995
on Build GRCh38
|
4170632 |
c.322_328delGGCCCTA |
p.R110fs*2 |
Chr.1:
26696725-26696731
on Build GRCh38
|
6925097 |
c.715C>G |
p.P239A |
Chr.1:
26697118-26697118
on Build GRCh38
|
6945264 |
c.353_365del13 |
p.E119fs*109 |
Chr.1:
26696756-26696768
on Build GRCh38
|
3774458 |
c.355G>A |
p.E119K |
Chr.1:
26696758-26696758
on Build GRCh38
|
6913587 |
c.707G>A |
p.G236D |
Chr.1:
26697110-26697110
on Build GRCh38
|
6948441 |
c.770_779del10 |
p.S258fs*102 |
Chr.1:
26697173-26697182
on Build GRCh38
|
6931476 |
c.682_710>A |
p.A228fs*126 |
Chr.1:
26697085-26697113
on Build GRCh38
|
126559 |
c.802C>T |
p.Q268* |
Chr.1:
26697205-26697205
on Build GRCh38
|
6282954 |
c.621C>T |
p.F207F |
Chr.1:
26697024-26697024
on Build GRCh38
|
6936556 |
c.275_318del44 |
p.G95fs*1 |
Chr.1:
26696678-26696721
on Build GRCh38
|
6907232 |
c.735_748del14 |
p.G248fs*147 |
Chr.1:
26697138-26697151
on Build GRCh38
|
6031802 |
c.574C>T |
p.L192L |
Chr.1:
26696977-26696977
on Build GRCh38
|
7345043 |
c.726_727insGCG |
p.A247_G248insA |
Chr.1:
26697129-26697130
on Build GRCh38
|
6982255 |
c.482T>C |
p.V161A |
Chr.1:
26696885-26696885
on Build GRCh38
|
6964804 |
c.789_792delTTCG |
p.S264fs*98 |
Chr.1:
26697192-26697195
on Build GRCh38
|
6914777 |
c.435_436CC>A |
p.P146fs*86 |
Chr.1:
26696838-26696839
on Build GRCh38
|
2235406 |
c.675C>T |
p.P225P |
Chr.1:
26697078-26697078
on Build GRCh38
|
6926206 |
c.413C>A |
p.S138* |
Chr.1:
26696816-26696816
on Build GRCh38
|
7253200 |
c.801_804delTCAG |
p.Q268fs*94 |
Chr.1:
26697204-26697207
on Build GRCh38
|
6936066 |
c.433delC |
p.P146fs*86 |
Chr.1:
26696836-26696836
on Build GRCh38
|
51433 |
c.645C>A |
p.Y215* |
Chr.1:
26697048-26697048
on Build GRCh38
|
6936461 |
c.710G>A |
p.G237D |
Chr.1:
26697113-26697113
on Build GRCh38
|
6951029 |
c.338_339TG>A |
p.L113fs*119 |
Chr.1:
26696741-26696742
on Build GRCh38
|
6957767 |
c.782C>A |
p.S261* |
Chr.1:
26697185-26697185
on Build GRCh38
|
6929342 |
c.314G>T |
p.G105V |
Chr.1:
26696717-26696717
on Build GRCh38
|
7184946 |
c.605C>T |
p.S202F |
Chr.1:
26697008-26697008
on Build GRCh38
|
4168356 |
c.407_410delCTCA |
p.H137fs*94 |
Chr.1:
26696810-26696813
on Build GRCh38
|
7330542 |
c.407C>A |
p.P136H |
Chr.1:
26696810-26696810
on Build GRCh38
|
5967145 |
c.417_417delC |
p.A140fs*92 |
Chr.1:
26697191-26697191
on Build GRCh38
|
6909394 |
c.308C>A |
p.S103* |
Chr.1:
26696711-26696711
on Build GRCh38
|
6963088 |
c.376_380delGGCGG |
p.G126fs*272 |
Chr.1:
26696779-26696783
on Build GRCh38
|
6209768 |
c.698_699insC |
p.R235fs*165 |
Chr.1:
26697101-26697102
on Build GRCh38
|
6950315 |
c.797_798TC>AA |
p.F266* |
Chr.1:
26697200-26697201
on Build GRCh38
|
51245 |
c.608_609insA |
p.H203fs*197 |
Chr.1:
26697011-26697012
on Build GRCh38
|
6921569 |
c.496G>A |
p.A166T |
Chr.1:
26696899-26696899
on Build GRCh38
|
6971884 |
c.414delA |
p.A139fs*93 |
Chr.1:
26696817-26696817
on Build GRCh38
|
5347108 |
c.342C>G |
p.N114K |
Chr.1:
26696745-26696745
on Build GRCh38
|
6933467 |
c.555G>C |
p.Q185H |
Chr.1:
26696958-26696958
on Build GRCh38
|
5347041 |
c.446G>A |
p.G149D |
Chr.1:
26696849-26696849
on Build GRCh38
|
6974927 |
c.358_361delCCGC |
p.P121fs*110 |
Chr.1:
26696761-26696764
on Build GRCh38
|
5752254 |
c.722_747del26 |
p.S241fs*1 |
Chr.1:
26697125-26697150
on Build GRCh38
|
1236667 |
c.648C>A |
p.Y216* |
Chr.1:
26697051-26697051
on Build GRCh38
|
4170631 |
c.313delG |
p.N106fs*8 |
Chr.1:
26696716-26696716
on Build GRCh38
|
6920848 |
c.798C>A |
p.F266L |
Chr.1:
26697201-26697201
on Build GRCh38
|