1644602 |
c.1716G>C |
p.L572F |
Chr.8:
100134221-100134221
on Build GRCh38
|
1755479 |
c.1708C>T |
p.R570W |
Chr.8:
100134331-100134331
on Build GRCh38
|
7178061 |
c.2035G>A |
p.E679K |
Chr.8:
100133894-100133894
on Build GRCh38
|
6445064 |
c.1679C>T |
p.A560V |
Chr.8:
100134360-100134360
on Build GRCh38
|
6472192 |
c.1879G>T |
p.V627F |
Chr.8:
100134050-100134050
on Build GRCh38
|
4471813 |
c.1742C>T |
p.S581F |
Chr.8:
100134297-100134297
on Build GRCh38
|
6413798 |
c.1624C>A |
p.R542S |
Chr.8:
100134313-100134313
on Build GRCh38
|
4400423 |
c.1592A>G |
p.E531G |
Chr.8:
100134345-100134345
on Build GRCh38
|
6662303 |
c.1756G>A |
p.A586T |
Chr.8:
100134283-100134283
on Build GRCh38
|
7448995 |
c.1748T>A |
p.L583* |
Chr.8:
100134189-100134189
on Build GRCh38
|
485866 |
c.2030G>T |
p.G677V |
Chr.8:
100133899-100133899
on Build GRCh38
|
6662305 |
c.1654G>A |
p.A552T |
Chr.8:
100134283-100134283
on Build GRCh38
|
5676629 |
c.1746G>T |
p.V582V |
Chr.8:
100134293-100134293
on Build GRCh38
|
7303610 |
c.1774C>G |
p.Q592E |
Chr.8:
100134265-100134265
on Build GRCh38
|
375133 |
c.1682T>C |
p.V561A |
Chr.8:
100134357-100134357
on Build GRCh38
|
4769006 |
c.1727G>A |
p.R576H |
Chr.8:
100134312-100134312
on Build GRCh38
|
5587801 |
c.1978C>T |
p.R660* |
Chr.8:
100133951-100133951
on Build GRCh38
|
7323736 |
c.1708C>G |
p.R570G |
Chr.8:
100134331-100134331
on Build GRCh38
|
1453607 |
c.1743T>C |
p.S581S |
Chr.8:
100134296-100134296
on Build GRCh38
|
3884138 |
c.1867C>A |
p.L623M |
Chr.8:
100133960-100133960
on Build GRCh38
|
6662330 |
c.1781C>T |
p.A594V |
Chr.8:
100134046-100134046
on Build GRCh38
|
6662328 |
c.1883C>T |
p.A628V |
Chr.8:
100134046-100134046
on Build GRCh38
|
1453606 |
c.1724T>C |
p.L575P |
Chr.8:
100134213-100134213
on Build GRCh38
|
3884136 |
c.1969C>A |
p.L657M |
Chr.8:
100133960-100133960
on Build GRCh38
|
748108 |
c.1809A>T |
p.G603G |
Chr.8:
100134230-100134230
on Build GRCh38
|
3833734 |
c.1916G>A |
p.C639Y |
Chr.8:
100133911-100133911
on Build GRCh38
|
748110 |
c.1707A>T |
p.G569G |
Chr.8:
100134230-100134230
on Build GRCh38
|
5676631 |
c.1644G>T |
p.V548V |
Chr.8:
100134293-100134293
on Build GRCh38
|
1453601 |
c.1898C>G |
p.T633S |
Chr.8:
100134031-100134031
on Build GRCh38
|
4852004 |
c.1575G>T |
p.G525G |
Chr.8:
100134362-100134362
on Build GRCh38
|
7115229 |
c.1733C>G |
p.S578C |
Chr.8:
100134204-100134204
on Build GRCh38
|
3643252 |
c.1659G>A |
p.R553R |
Chr.8:
100134278-100134278
on Build GRCh38
|
1094278 |
c.1955A>C |
p.Y652S |
Chr.8:
100133974-100133974
on Build GRCh38
|
7115227 |
c.1835C>G |
p.S612C |
Chr.8:
100134204-100134204
on Build GRCh38
|
5976556 |
c.2030G>A |
p.G677E |
Chr.8:
100133899-100133899
on Build GRCh38
|
3643248 |
c.1880T>C |
p.V627A |
Chr.8:
100134049-100134049
on Build GRCh38
|
5976558 |
c.1928G>A |
p.G643E |
Chr.8:
100133899-100133899
on Build GRCh38
|
6472194 |
c.1777G>T |
p.V593F |
Chr.8:
100134050-100134050
on Build GRCh38
|
7178063 |
c.1933G>A |
p.E645K |
Chr.8:
100133894-100133894
on Build GRCh38
|
4471815 |
c.1640C>T |
p.S547F |
Chr.8:
100134297-100134297
on Build GRCh38
|
1094280 |
c.1853A>C |
p.Y618S |
Chr.8:
100133974-100133974
on Build GRCh38
|
6413796 |
c.1726C>A |
p.R576S |
Chr.8:
100134313-100134313
on Build GRCh38
|
5358601 |
c.1651delC |
p.Q551fs*22 |
Chr.8:
100134286-100134286
on Build GRCh38
|
1644600 |
c.1818G>C |
p.L606F |
Chr.8:
100134221-100134221
on Build GRCh38
|
6445066 |
c.1577C>T |
p.A526V |
Chr.8:
100134360-100134360
on Build GRCh38
|
7448993 |
c.1850T>A |
p.L617* |
Chr.8:
100134189-100134189
on Build GRCh38
|
3833732 |
c.2018G>A |
p.C673Y |
Chr.8:
100133911-100133911
on Build GRCh38
|
5608714 |
c.1935C>T |
p.S645S |
Chr.8:
100133994-100133994
on Build GRCh38
|
1206847 |
c.1771G>A |
p.V591I |
Chr.8:
100134166-100134166
on Build GRCh38
|
375135 |
c.1580T>C |
p.V527A |
Chr.8:
100134357-100134357
on Build GRCh38
|
5587803 |
c.1876C>T |
p.R626* |
Chr.8:
100133951-100133951
on Build GRCh38
|
4852002 |
c.1677G>T |
p.G559G |
Chr.8:
100134362-100134362
on Build GRCh38
|
4769008 |
c.1625G>A |
p.R542H |
Chr.8:
100134312-100134312
on Build GRCh38
|
7303612 |
c.1672C>G |
p.Q558E |
Chr.8:
100134265-100134265
on Build GRCh38
|
1755480 |
c.1606C>T |
p.R536W |
Chr.8:
100134331-100134331
on Build GRCh38
|
1206845 |
c.1873G>A |
p.V625I |
Chr.8:
100134166-100134166
on Build GRCh38
|
7323738 |
c.1606C>G |
p.R536G |
Chr.8:
100134331-100134331
on Build GRCh38
|
3884135 |
c.1868T>C |
p.L623P |
Chr.8:
100133959-100133959
on Build GRCh38
|
1453604 |
c.1826T>C |
p.L609P |
Chr.8:
100134213-100134213
on Build GRCh38
|
5774285 |
c.1869A>G |
p.E623E |
Chr.8:
100134170-100134170
on Build GRCh38
|
6876847 |
c.1801C>T |
p.P601S |
Chr.8:
100134238-100134238
on Build GRCh38
|
1453603 |
c.1796C>G |
p.T599S |
Chr.8:
100134031-100134031
on Build GRCh38
|
3884141 |
c.1607G>A |
p.R536Q |
Chr.8:
100134330-100134330
on Build GRCh38
|
5774287 |
c.1767A>G |
p.E589E |
Chr.8:
100134170-100134170
on Build GRCh38
|
6876849 |
c.1699C>T |
p.P567S |
Chr.8:
100134238-100134238
on Build GRCh38
|
748104 |
c.1706G>T |
p.G569V |
Chr.8:
100134231-100134231
on Build GRCh38
|
5608716 |
c.1833C>T |
p.S611S |
Chr.8:
100133994-100133994
on Build GRCh38
|
3884133 |
c.1970T>C |
p.L657P |
Chr.8:
100133959-100133959
on Build GRCh38
|
748102 |
c.1808G>T |
p.G603V |
Chr.8:
100134231-100134231
on Build GRCh38
|
748113 |
c.1863G>C |
p.R621S |
Chr.8:
100133964-100133964
on Build GRCh38
|
748111 |
c.1965G>C |
p.R655S |
Chr.8:
100133964-100133964
on Build GRCh38
|
3884139 |
c.1709G>A |
p.R570Q |
Chr.8:
100134330-100134330
on Build GRCh38
|
485868 |
c.1928G>T |
p.G643V |
Chr.8:
100133899-100133899
on Build GRCh38
|
5358599 |
c.1753delC |
p.Q585fs*22 |
Chr.8:
100134286-100134286
on Build GRCh38
|
6024330 |
c.1573-9_1573-8insT |
p.? |
Chr.8:
100134372-100134373
on Build GRCh38
|
3929314 |
c.1707A>G |
p.G569G |
Chr.8:
100134230-100134230
on Build GRCh38
|
1496770 |
c.1946A>C |
p.Y649S |
Chr.8:
100133983-100133983
on Build GRCh38
|
3643249 |
c.1778T>C |
p.V593A |
Chr.8:
100134049-100134049
on Build GRCh38
|
1496772 |
c.1844A>C |
p.Y615S |
Chr.8:
100133983-100133983
on Build GRCh38
|
4400421 |
c.1694A>G |
p.E565G |
Chr.8:
100134345-100134345
on Build GRCh38
|
3643251 |
c.1761G>A |
p.R587R |
Chr.8:
100134278-100134278
on Build GRCh38
|
1453609 |
c.1641T>C |
p.S547S |
Chr.8:
100134296-100134296
on Build GRCh38
|
3929312 |
c.1809A>G |
p.G603G |
Chr.8:
100134230-100134230
on Build GRCh38
|
6024328 |
c.1675-9_1675-8insT |
p.? |
Chr.8:
100134372-100134373
on Build GRCh38
|