5007626 |
c.671C>T |
p.T224I |
Chr.2:
201274913-201274913
on Build GRCh38
|
3721143 |
c.698A>G |
p.D233G |
Chr.2:
201274940-201274940
on Build GRCh38
|
3798499 |
c.809C>G |
p.S270C |
Chr.2:
201274925-201274925
on Build GRCh38
|
6926966 |
c.649G>T |
p.E217* |
Chr.2:
201274891-201274891
on Build GRCh38
|
4450515 |
c.647-1delG |
p.? |
Chr.2:
201274888-201274888
on Build GRCh38
|
1614136 |
c.810T>A |
p.S270S |
Chr.2:
201274926-201274926
on Build GRCh38
|
3769652 |
c.834_837+10delACAGGTAGACGGAA |
p.? |
Chr.2:
201274950-201274963
on Build GRCh38
|
5955859 |
c.837G>A |
p.Q279Q |
Chr.2:
201274953-201274953
on Build GRCh38
|
5955861 |
c.711G>A |
p.Q237Q |
Chr.2:
201274953-201274953
on Build GRCh38
|
5967298 |
c.703G>T |
p.E235* |
Chr.2:
201274945-201274945
on Build GRCh38
|
5007624 |
c.797C>T |
p.T266I |
Chr.2:
201274913-201274913
on Build GRCh38
|
1247372 |
c.686C>T |
p.P229L |
Chr.2:
201274928-201274928
on Build GRCh38
|
209548 |
c.677C>T |
p.S226L |
Chr.2:
201274919-201274919
on Build GRCh38
|
4450513 |
c.773-1delG |
p.? |
Chr.2:
201274888-201274888
on Build GRCh38
|
6979269 |
c.685C>G |
p.P229A |
Chr.2:
201274927-201274927
on Build GRCh38
|
1565156 |
c.786_787insG |
p.V264fs*13 |
Chr.2:
201274902-201274903
on Build GRCh38
|
6979267 |
c.811C>G |
p.P271A |
Chr.2:
201274927-201274927
on Build GRCh38
|
3713586 |
c.678G>A |
p.S226S |
Chr.2:
201274920-201274920
on Build GRCh38
|
6918089 |
c.648_649insG |
p.E217fs*18 |
Chr.2:
201274890-201274891
on Build GRCh38
|
1614138 |
c.684T>A |
p.S228S |
Chr.2:
201274926-201274926
on Build GRCh38
|
6945504 |
c.672delA |
p.I225fs*21 |
Chr.2:
201274914-201274914
on Build GRCh38
|
6926964 |
c.775G>T |
p.E259* |
Chr.2:
201274891-201274891
on Build GRCh38
|
1565158 |
c.660_661insG |
p.V222fs*13 |
Chr.2:
201274902-201274903
on Build GRCh38
|
3721141 |
c.824A>G |
p.D275G |
Chr.2:
201274940-201274940
on Build GRCh38
|
1247370 |
c.812C>T |
p.P271L |
Chr.2:
201274928-201274928
on Build GRCh38
|
6908541 |
c.691G>T |
p.E231* |
Chr.2:
201274933-201274933
on Build GRCh38
|
6918087 |
c.774_775insG |
p.E259fs*18 |
Chr.2:
201274890-201274891
on Build GRCh38
|
5640909 |
c.816A>T |
p.R272S |
Chr.2:
201274932-201274932
on Build GRCh38
|
5640911 |
c.690A>T |
p.R230S |
Chr.2:
201274932-201274932
on Build GRCh38
|
3713584 |
c.804G>A |
p.S268S |
Chr.2:
201274920-201274920
on Build GRCh38
|
3769654 |
c.708_711+10delACAGGTAGACGGAA |
p.? |
Chr.2:
201274950-201274963
on Build GRCh38
|
3798501 |
c.683C>G |
p.S228C |
Chr.2:
201274925-201274925
on Build GRCh38
|
6945502 |
c.798delA |
p.I267fs*21 |
Chr.2:
201274914-201274914
on Build GRCh38
|
209549 |
c.803C>T |
p.S268L |
Chr.2:
201274919-201274919
on Build GRCh38
|