231550 |
c.1904G>C |
p.R635P |
Chr.2:
25243930-25243930
on Build GRCh38
|
7184714 |
c.1897C>T |
p.P633S |
Chr.2:
25243937-25243937
on Build GRCh38
|
6945536 |
c.1887G>T |
p.E629D |
Chr.2:
25243947-25243947
on Build GRCh38
|
133741 |
c.1865_1866insGT |
p.Y623fs*29 |
Chr.2:
25243968-25243969
on Build GRCh38
|
6498437 |
c.1936+8G>A |
p.? |
Chr.2:
25243890-25243890
on Build GRCh38
|
6907474 |
c.1331C>T |
p.P444L |
Chr.2:
25243936-25243936
on Build GRCh38
|
6908302 |
c.1910T>G |
p.L637R |
Chr.2:
25243924-25243924
on Build GRCh38
|
6935172 |
c.1348C>A |
p.L450I |
Chr.2:
25243919-25243919
on Build GRCh38
|
7409589 |
c.1867delT |
p.Y623fs*28 |
Chr.2:
25243967-25243967
on Build GRCh38
|
5945647 |
c.1880_1880delC |
p.P627fs*24 |
Chr.2:
25243954-25243954
on Build GRCh38
|
6955775 |
c.1348C>G |
p.L450V |
Chr.2:
25243919-25243919
on Build GRCh38
|
6023071 |
c.1873C>A |
p.P625T |
Chr.2:
25243961-25243961
on Build GRCh38
|
6933825 |
c.1285-1G>T |
p.? |
Chr.2:
25243983-25243983
on Build GRCh38
|
6948013 |
c.1923_1924insTGAT |
p.G642fs*1 |
Chr.2:
25243910-25243911
on Build GRCh38
|
7409540 |
c.1903_1913del11 |
p.R635fs*3 |
Chr.2:
25243921-25243931
on Build GRCh38
|
6907567 |
c.1925G>A |
p.G642E |
Chr.2:
25243909-25243909
on Build GRCh38
|
6946543 |
c.1285G>A |
p.D429N |
Chr.2:
25243982-25243982
on Build GRCh38
|
6945537 |
c.1320G>T |
p.E440D |
Chr.2:
25243947-25243947
on Build GRCh38
|
7262215 |
c.1341G>A |
p.V447V |
Chr.2:
25243926-25243926
on Build GRCh38
|
6948014 |
c.1356_1357insTGAT |
p.G453fs*1 |
Chr.2:
25243910-25243911
on Build GRCh38
|
6907576 |
c.1343T>A |
p.L448Q |
Chr.2:
25243924-25243924
on Build GRCh38
|
6914127 |
c.1312C>T |
p.P438S |
Chr.2:
25243955-25243955
on Build GRCh38
|
87012 |
c.1903C>T |
p.R635W |
Chr.2:
25243931-25243931
on Build GRCh38
|
6942654 |
c.1318G>A |
p.E440K |
Chr.2:
25243949-25243949
on Build GRCh38
|
5878799 |
c.1898C>A |
p.P633H |
Chr.2:
25243936-25243936
on Build GRCh38
|
5878800 |
c.1331C>A |
p.P444H |
Chr.2:
25243936-25243936
on Build GRCh38
|
6944210 |
c.1369+1G>T |
p.? |
Chr.2:
25243897-25243897
on Build GRCh38
|
144561 |
c.1852_1852delG |
p.D618fs*33 |
Chr.2:
25243982-25243982
on Build GRCh38
|
5944945 |
c.1910T>A |
p.L637Q |
Chr.2:
25243924-25243924
on Build GRCh38
|
5878786 |
c.1935_1936insA |
p.G646fs*22 |
Chr.2:
25243898-25243899
on Build GRCh38
|
5878789 |
c.1366A>G |
p.T456A |
Chr.2:
25243901-25243901
on Build GRCh38
|
6908303 |
c.1343T>G |
p.L448R |
Chr.2:
25243924-25243924
on Build GRCh38
|
6933824 |
c.1852-1G>T |
p.? |
Chr.2:
25243983-25243983
on Build GRCh38
|
133124 |
c.1906G>A |
p.V636M |
Chr.2:
25243928-25243928
on Build GRCh38
|
5878794 |
c.1913C>T |
p.S638F |
Chr.2:
25243921-25243921
on Build GRCh38
|
5944224 |
c.1896delG |
p.K632fs*19 |
Chr.2:
25243938-25243938
on Build GRCh38
|
1583088 |
c.1904G>A |
p.R635Q |
Chr.2:
25243930-25243930
on Build GRCh38
|
5878797 |
c.1339G>T |
p.V447L |
Chr.2:
25243928-25243928
on Build GRCh38
|
231562 |
c.1872_1872delA |
p.P625fs*26 |
Chr.2:
25243962-25243962
on Build GRCh38
|
6955774 |
c.1915C>G |
p.L639V |
Chr.2:
25243919-25243919
on Build GRCh38
|
7262214 |
c.1908G>A |
p.V636V |
Chr.2:
25243926-25243926
on Build GRCh38
|
5878790 |
c.1917_1920delCTTT |
p.F640fs*10 |
Chr.2:
25243914-25243917
on Build GRCh38
|
5878793 |
c.1346C>G |
p.S449C |
Chr.2:
25243921-25243921
on Build GRCh38
|
303905 |
c.1928_1929insT |
p.A644fs*24 |
Chr.2:
25243905-25243906
on Build GRCh38
|
144489 |
c.1869C>A |
p.Y623* |
Chr.2:
25243965-25243965
on Build GRCh38
|
7365187 |
c.1357G>T |
p.G453* |
Chr.2:
25243910-25243910
on Build GRCh38
|
5762869 |
c.1339G>A |
p.V447M |
Chr.2:
25243928-25243928
on Build GRCh38
|
6946542 |
c.1852G>A |
p.D618N |
Chr.2:
25243982-25243982
on Build GRCh38
|
6022882 |
c.1900A>T |
p.I634F |
Chr.2:
25243934-25243934
on Build GRCh38
|
6907568 |
c.1358G>A |
p.G453E |
Chr.2:
25243909-25243909
on Build GRCh38
|
6942653 |
c.1885G>A |
p.E629K |
Chr.2:
25243949-25243949
on Build GRCh38
|
53097 |
c.1936+2T>C |
p.? |
Chr.2:
25243896-25243896
on Build GRCh38
|
7365186 |
c.1924G>T |
p.G642* |
Chr.2:
25243910-25243910
on Build GRCh38
|
6944209 |
c.1936+1G>T |
p.? |
Chr.2:
25243897-25243897
on Build GRCh38
|
7184715 |
c.1330C>T |
p.P444S |
Chr.2:
25243937-25243937
on Build GRCh38
|
5878801 |
c.1888_1889ins13 |
p.K630fs*4 |
Chr.2:
25243945-25243946
on Build GRCh38
|
5878802 |
c.1321_1322ins13 |
p.K441fs*4 |
Chr.2:
25243945-25243946
on Build GRCh38
|
6914126 |
c.1879C>T |
p.P627S |
Chr.2:
25243955-25243955
on Build GRCh38
|
5878796 |
c.1906G>T |
p.V636L |
Chr.2:
25243928-25243928
on Build GRCh38
|
5878798 |
c.1337G>A |
p.R446Q |
Chr.2:
25243930-25243930
on Build GRCh38
|
1407108 |
c.1336C>T |
p.R446W |
Chr.2:
25243931-25243931
on Build GRCh38
|
5944477 |
c.1921_1922insT |
p.D641fs*27 |
Chr.2:
25243912-25243913
on Build GRCh38
|
6498438 |
c.1369+8G>A |
p.? |
Chr.2:
25243890-25243890
on Build GRCh38
|
5878787 |
c.1368_1369insA |
p.G457fs*22 |
Chr.2:
25243898-25243899
on Build GRCh38
|
5878792 |
c.1913C>G |
p.S638C |
Chr.2:
25243921-25243921
on Build GRCh38
|
1583089 |
c.1896_1896delG |
p.K632fs*19 |
Chr.2:
25243938-25243938
on Build GRCh38
|
5878795 |
c.1346C>T |
p.S449F |
Chr.2:
25243921-25243921
on Build GRCh38
|
6907473 |
c.1898C>T |
p.P633L |
Chr.2:
25243936-25243936
on Build GRCh38
|
5878788 |
c.1933A>G |
p.T645A |
Chr.2:
25243901-25243901
on Build GRCh38
|
1583087 |
c.1920_1920delT |
p.F640fs*11 |
Chr.2:
25243914-25243914
on Build GRCh38
|
6935171 |
c.1915C>A |
p.L639I |
Chr.2:
25243919-25243919
on Build GRCh38
|
5878791 |
c.1350_1353delCTTT |
p.F451fs*10 |
Chr.2:
25243914-25243917
on Build GRCh38
|