6627547 |
c.140C>G |
p.T47R |
Chr.1:
196982966-196982966
on Build GRCh38
|
159965 |
c.243G>A |
p.P81P |
Chr.1:
196983069-196983069
on Build GRCh38
|
227692 |
c.145G>A |
p.E49K |
Chr.1:
196982971-196982971
on Build GRCh38
|
3863973 |
c.256C>T |
p.P86S |
Chr.1:
196983010-196983010
on Build GRCh38
|
4527079 |
c.215G>A |
p.G72E |
Chr.1:
196982969-196982969
on Build GRCh38
|
7361048 |
c.227G>C |
p.G76A |
Chr.1:
196983053-196983053
on Build GRCh38
|
4026553 |
c.186T>G |
p.D62E |
Chr.1:
196982940-196982940
on Build GRCh38
|
4569435 |
c.247T>A |
p.F83I |
Chr.1:
196983001-196983001
on Build GRCh38
|
2125057 |
c.185A>G |
p.D62G |
Chr.1:
196982939-196982939
on Build GRCh38
|
901601 |
c.201G>A |
p.W67* |
Chr.1:
196983027-196983027
on Build GRCh38
|
6202347 |
c.293A>T |
p.E98V |
Chr.1:
196983047-196983047
on Build GRCh38
|
3705380 |
c.219A>T |
p.E73D |
Chr.1:
196982973-196982973
on Build GRCh38
|
3480929 |
c.266C>T |
p.S89F |
Chr.1:
196983020-196983020
on Build GRCh38
|
1473203 |
c.181T>G |
p.S61A |
Chr.1:
196983007-196983007
on Build GRCh38
|
7222600 |
c.166G>T |
p.E56* |
Chr.1:
196982992-196982992
on Build GRCh38
|
6627538 |
c.198T>C |
p.F66F |
Chr.1:
196982952-196982952
on Build GRCh38
|
3480925 |
c.129C>T |
p.S43S |
Chr.1:
196982955-196982955
on Build GRCh38
|
6627534 |
c.181G>T |
p.E61* |
Chr.1:
196982935-196982935
on Build GRCh38
|
1646067 |
c.257C>A |
p.P86H |
Chr.1:
196983011-196983011
on Build GRCh38
|
6866589 |
c.195C>T |
p.S65S |
Chr.1:
196983021-196983021
on Build GRCh38
|
1689497 |
c.307C>T |
p.P103S |
Chr.1:
196983061-196983061
on Build GRCh38
|
5598137 |
c.161C>T |
p.S54F |
Chr.1:
196982987-196982987
on Build GRCh38
|
3480926 |
c.201C>T |
p.S67S |
Chr.1:
196982955-196982955
on Build GRCh38
|
7103708 |
c.220G>A |
p.E74K |
Chr.1:
196983046-196983046
on Build GRCh38
|
5562783 |
c.123T>C |
p.P41P |
Chr.1:
196982949-196982949
on Build GRCh38
|
3705379 |
c.147A>T |
p.E49D |
Chr.1:
196982973-196982973
on Build GRCh38
|
6484517 |
c.210T>A |
p.P70P |
Chr.1:
196982964-196982964
on Build GRCh38
|
5598138 |
c.233C>T |
p.S78F |
Chr.1:
196982987-196982987
on Build GRCh38
|
7361049 |
c.299G>C |
p.G100A |
Chr.1:
196983053-196983053
on Build GRCh38
|
1689494 |
c.128C>T |
p.S43F |
Chr.1:
196982954-196982954
on Build GRCh38
|
6527974 |
c.235T>C |
p.C79R |
Chr.1:
196982989-196982989
on Build GRCh38
|
1127199 |
c.206G>A |
p.R69H |
Chr.1:
196983032-196983032
on Build GRCh38
|
678386 |
c.185C>A |
p.P62H |
Chr.1:
196983011-196983011
on Build GRCh38
|
5226840 |
c.253T>G |
p.S85A |
Chr.1:
196983007-196983007
on Build GRCh38
|
4569434 |
c.175T>A |
p.F59I |
Chr.1:
196983001-196983001
on Build GRCh38
|
4026552 |
c.114T>G |
p.D38E |
Chr.1:
196982940-196982940
on Build GRCh38
|
7361050 |
c.136C>T |
p.P46S |
Chr.1:
196982962-196982962
on Build GRCh38
|
5705115 |
c.108A>T |
p.E36D |
Chr.1:
196982934-196982934
on Build GRCh38
|
5562784 |
c.195T>C |
p.P65P |
Chr.1:
196982949-196982949
on Build GRCh38
|
6202346 |
c.221A>T |
p.E74V |
Chr.1:
196983047-196983047
on Build GRCh38
|
239302 |
c.188delC |
p.S63fs*1 |
Chr.1:
196983014-196983014
on Build GRCh38
|
7222601 |
c.238G>T |
p.E80* |
Chr.1:
196982992-196982992
on Build GRCh38
|
3863972 |
c.184C>T |
p.P62S |
Chr.1:
196983010-196983010
on Build GRCh38
|
6527973 |
c.163T>C |
p.C55R |
Chr.1:
196982989-196982989
on Build GRCh38
|
3480927 |
c.217G>A |
p.E73K |
Chr.1:
196982971-196982971
on Build GRCh38
|
3725149 |
c.231C>A |
p.Y77* |
Chr.1:
196982985-196982985
on Build GRCh38
|
6866590 |
c.267C>T |
p.S89S |
Chr.1:
196983021-196983021
on Build GRCh38
|
7103709 |
c.292G>A |
p.E98K |
Chr.1:
196983046-196983046
on Build GRCh38
|
6627537 |
c.126T>C |
p.F42F |
Chr.1:
196982952-196982952
on Build GRCh38
|
6627533 |
c.109G>T |
p.E37* |
Chr.1:
196982935-196982935
on Build GRCh38
|
4527078 |
c.143G>A |
p.G48E |
Chr.1:
196982969-196982969
on Build GRCh38
|
3480923 |
c.121C>T |
p.P41S |
Chr.1:
196982947-196982947
on Build GRCh38
|
1200899 |
c.117T>G |
p.Y39* |
Chr.1:
196982943-196982943
on Build GRCh38
|
5705116 |
c.180A>T |
p.E60D |
Chr.1:
196982934-196982934
on Build GRCh38
|
3480924 |
c.193C>T |
p.P65S |
Chr.1:
196982947-196982947
on Build GRCh38
|
6627548 |
c.212C>G |
p.T71R |
Chr.1:
196982966-196982966
on Build GRCh38
|
6484516 |
c.138T>A |
p.P46P |
Chr.1:
196982964-196982964
on Build GRCh38
|
3725148 |
c.159C>A |
p.Y53* |
Chr.1:
196982985-196982985
on Build GRCh38
|
2125056 |
c.113A>G |
p.D38G |
Chr.1:
196982939-196982939
on Build GRCh38
|
1689495 |
c.200C>T |
p.S67F |
Chr.1:
196982954-196982954
on Build GRCh38
|
3480928 |
c.194C>T |
p.S65F |
Chr.1:
196983020-196983020
on Build GRCh38
|
7361051 |
c.208C>T |
p.P70S |
Chr.1:
196982962-196982962
on Build GRCh38
|
1689496 |
c.235C>T |
p.P79S |
Chr.1:
196983061-196983061
on Build GRCh38
|
1646066 |
c.294A>G |
p.E98E |
Chr.1:
196983048-196983048
on Build GRCh38
|
678385 |
c.222A>G |
p.E74E |
Chr.1:
196983048-196983048
on Build GRCh38
|