5651329 |
c.174_175insA |
p.Q59fs*4 |
Chr.1:
116544500-116544501
on Build GRCh38
|
1333040 |
c.254_255delCT |
p.T85fs*4 |
Chr.1:
116544420-116544421
on Build GRCh38
|
6623831 |
c.320C>A |
p.S107* |
Chr.1:
116544355-116544355
on Build GRCh38
|
1333038 |
c.258_259delGT |
p.S87fs*2 |
Chr.1:
116544416-116544417
on Build GRCh38
|
1333042 |
c.222C>G |
p.F74L |
Chr.1:
116544453-116544453
on Build GRCh38
|
5652419 |
c.298G>T |
p.E100* |
Chr.1:
116544377-116544377
on Build GRCh38
|
4021032 |
c.152T>A |
p.L51* |
Chr.1:
116544523-116544523
on Build GRCh38
|
1333041 |
c.236delA |
p.N79fs*5 |
Chr.1:
116544439-116544439
on Build GRCh38
|
4170536 |
c.275_278delTCTA |
p.I92fs*3 |
Chr.1:
116544397-116544400
on Build GRCh38
|
1333044 |
c.174delA |
p.K58fs*26 |
Chr.1:
116544501-116544501
on Build GRCh38
|
6623835 |
c.296A>G |
p.D99G |
Chr.1:
116544379-116544379
on Build GRCh38
|
1333043 |
c.179A>C |
p.K60T |
Chr.1:
116544496-116544496
on Build GRCh38
|
4169921 |
c.164T>C |
p.L55P |
Chr.1:
116544511-116544511
on Build GRCh38
|
5656343 |
c.272_275delCTAT |
p.I92fs*3 |
Chr.1:
116544400-116544403
on Build GRCh38
|
4218378 |
c.304G>T |
p.E102* |
Chr.1:
116544371-116544371
on Build GRCh38
|
5961073 |
c.293C>G |
p.S98* |
Chr.1:
116544382-116544382
on Build GRCh38
|
3734419 |
c.151T>G |
p.L51V |
Chr.1:
116544524-116544524
on Build GRCh38
|
1235106 |
c.274_275delAT |
p.I92fs*8 |
Chr.1:
116544400-116544401
on Build GRCh38
|
5516163 |
c.220T>G |
p.F74V |
Chr.1:
116544455-116544455
on Build GRCh38
|
1333037 |
c.308A>G |
p.Y103C |
Chr.1:
116544367-116544367
on Build GRCh38
|
1333036 |
c.326A>C |
p.N109T |
Chr.1:
116544349-116544349
on Build GRCh38
|
5619853 |
c.285A>T |
p.L95F |
Chr.1:
116544390-116544390
on Build GRCh38
|
4850039 |
c.193G>C |
p.E65Q |
Chr.1:
116544482-116544482
on Build GRCh38
|
894403 |
c.157G>T |
p.E53* |
Chr.1:
116544518-116544518
on Build GRCh38
|
4962460 |
c.240G>T |
p.R80S |
Chr.1:
116544435-116544435
on Build GRCh38
|
4856842 |
c.316G>T |
p.E106* |
Chr.1:
116544359-116544359
on Build GRCh38
|
1158044 |
c.320C>T |
p.S107L |
Chr.1:
116544355-116544355
on Build GRCh38
|
3471877 |
c.348C>T |
p.F116F |
Chr.1:
116544327-116544327
on Build GRCh38
|
5713433 |
c.220_226delTTCTCAT |
p.F74fs*8 |
Chr.1:
116544449-116544455
on Build GRCh38
|
5949692 |
c.167G>A |
p.W56* |
Chr.1:
116544508-116544508
on Build GRCh38
|
5129967 |
c.326delA |
p.N109fs*6 |
Chr.1:
116544349-116544349
on Build GRCh38
|
361398 |
c.184A>G |
p.K62E |
Chr.1:
116544491-116544491
on Build GRCh38
|
5704865 |
c.352_355delCTTT |
p.L118fs*11 |
Chr.1:
116544320-116544323
on Build GRCh38
|
5704864 |
c.364+1G>A |
p.? |
Chr.1:
116544310-116544310
on Build GRCh38
|
4614422 |
c.236_237insA |
p.N79fs*2 |
Chr.1:
116544438-116544439
on Build GRCh38
|
5704867 |
c.269_270insAGCC |
p.T91fs*11 |
Chr.1:
116544405-116544406
on Build GRCh38
|
4670521 |
c.156delA |
p.E53fs*31 |
Chr.1:
116544519-116544519
on Build GRCh38
|
894402 |
c.354T>G |
p.L118L |
Chr.1:
116544321-116544321
on Build GRCh38
|
5704866 |
c.353T>A |
p.L118H |
Chr.1:
116544322-116544322
on Build GRCh38
|
7316626 |
c.157G>A |
p.E53K |
Chr.1:
116544518-116544518
on Build GRCh38
|
4760482 |
c.174A>T |
p.K58N |
Chr.1:
116544501-116544501
on Build GRCh38
|
5704869 |
c.175_177delCAA |
p.Q59delQ |
Chr.1:
116544498-116544500
on Build GRCh38
|
5704868 |
c.242T>G |
p.V81G |
Chr.1:
116544433-116544433
on Build GRCh38
|