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c.648G>C |
p.L216F |
Chr.17:
31304962-31304962
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|
| 4811070 |
c.693G>C |
p.L231F |
Chr.17:
31304962-31304962
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|
| 4129820 |
c.561T>A |
p.D187E |
Chr.17:
31305049-31305049
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|
| 4782971 |
c.712G>C |
p.V238L |
Chr.17:
31304943-31304943
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|
| 1493831 |
c.570T>A |
p.S190R |
Chr.17:
31305040-31305040
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|
| 1382137 |
c.667G>C |
p.V223L |
Chr.17:
31304943-31304943
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|
| 5852185 |
c.763G>A |
p.G255S |
Chr.17:
31304892-31304892
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|
| 1382138 |
c.614C>T |
p.A205V |
Chr.17:
31304996-31304996
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|
| 6852028 |
c.588A>G |
p.Q196Q |
Chr.17:
31305022-31305022
on Build GRCh38
|
| 256881 |
c.600T>G |
p.Y200* |
Chr.17:
31305010-31305010
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|
| 7114973 |
c.586C>A |
p.Q196K |
Chr.17:
31305024-31305024
on Build GRCh38
|
| 166044 |
c.593_594insT |
p.N199fs*3 |
Chr.17:
31305016-31305017
on Build GRCh38
|
| 1734082 |
c.641C>T |
p.S214F |
Chr.17:
31304969-31304969
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|
| 5013128 |
c.599A>T |
p.Y200F |
Chr.17:
31305011-31305011
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|
| 5521001 |
c.646T>C |
p.L216L |
Chr.17:
31304964-31304964
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|
| 4908821 |
c.615T>G |
p.S205R |
Chr.17:
31305040-31305040
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|
| 4907139 |
c.545C>T |
p.S182F |
Chr.17:
31305110-31305110
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|
| 5852184 |
c.718G>A |
p.G240S |
Chr.17:
31304892-31304892
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|
| 4949169 |
c.659C>T |
p.A220V |
Chr.17:
31304996-31304996
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|
| 4613911 |
c.638delA |
p.N213fs*6 |
Chr.17:
31305017-31305017
on Build GRCh38
|
| 4909315 |
c.606T>A |
p.D202E |
Chr.17:
31305049-31305049
on Build GRCh38
|
| 6852029 |
c.633A>G |
p.Q211Q |
Chr.17:
31305022-31305022
on Build GRCh38
|
| 392278 |
c.593_594insA |
p.N198fs*4 |
Chr.17:
31305016-31305017
on Build GRCh38
|
| 5013129 |
c.644A>T |
p.Y215F |
Chr.17:
31305011-31305011
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|
| 3969956 |
c.570T>G |
p.S190R |
Chr.17:
31305040-31305040
on Build GRCh38
|
| 7114974 |
c.631C>A |
p.Q211K |
Chr.17:
31305024-31305024
on Build GRCh38
|
| 5521002 |
c.691T>C |
p.L231L |
Chr.17:
31304964-31304964
on Build GRCh38
|
| 1180835 |
c.593delA |
p.N198fs*6 |
Chr.17:
31305017-31305017
on Build GRCh38
|
| 27386 |
c.1_*del |
p.0 |
Chr.17:
31095311-31374156
on Build GRCh38
|
| 4065337 |
c.500C>T |
p.S167F |
Chr.17:
31305110-31305110
on Build GRCh38
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