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c.290A>G |
p.D97G |
Chr.21:
17551828-17551828
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|
| 6638429 |
c.334C>A |
p.L112M |
Chr.21:
17551872-17551872
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|
| 5858445 |
c.265G>A |
p.G89S |
Chr.21:
17551803-17551803
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|
| 1615925 |
c.269G>A |
p.R90Q |
Chr.21:
17551807-17551807
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|
| 5392718 |
c.400C>T |
p.H134Y |
Chr.21:
17551938-17551938
on Build GRCh38
|
| 5858447 |
c.281C>A |
p.T94K |
Chr.21:
17551819-17551819
on Build GRCh38
|
| 4393103 |
c.405G>T |
p.L135L |
Chr.21:
17551943-17551943
on Build GRCh38
|
| 74298 |
c.344T>A |
p.I115N |
Chr.21:
17551882-17551882
on Build GRCh38
|
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c.386C>A |
p.A129E |
Chr.21:
17551924-17551924
on Build GRCh38
|
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c.248A>G |
p.Y83C |
Chr.21:
17551786-17551786
on Build GRCh38
|
| 6263414 |
c.402T>G |
p.H134Q |
Chr.21:
17551940-17551940
on Build GRCh38
|
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c.415G>T |
p.V139F |
Chr.21:
17551953-17551953
on Build GRCh38
|
| 4896470 |
c.236T>A |
p.I79N |
Chr.21:
17551774-17551774
on Build GRCh38
|
| 6161135 |
c.340G>C |
p.D114H |
Chr.21:
17551878-17551878
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|
| 5392717 |
c.400C>T |
p.H134Y |
Chr.21:
17551938-17551938
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|
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c.392A>G |
p.K131R |
Chr.21:
17551930-17551930
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|
| 5974193 |
c.290A>G |
p.D97G |
Chr.21:
17551828-17551828
on Build GRCh38
|
| 6638428 |
c.334C>A |
p.L112M |
Chr.21:
17551872-17551872
on Build GRCh38
|
| 5858446 |
c.265G>A |
p.G89S |
Chr.21:
17551803-17551803
on Build GRCh38
|
| 5858448 |
c.281C>A |
p.T94K |
Chr.21:
17551819-17551819
on Build GRCh38
|
| 4896469 |
c.236T>A |
p.I79N |
Chr.21:
17551774-17551774
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|
| 4393104 |
c.405G>T |
p.L135L |
Chr.21:
17551943-17551943
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|
| 2840937 |
c.374C>T |
p.A125V |
Chr.21:
17551912-17551912
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|
| 280241 |
c.211-1G>T |
p.? |
Chr.21:
17551748-17551748
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|
| 4295113 |
c.374C>T |
p.A125V |
Chr.21:
17551912-17551912
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|
| 6263413 |
c.402T>G |
p.H134Q |
Chr.21:
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c.415G>T |
p.V139F |
Chr.21:
17551953-17551953
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|
| 260335 |
c.289G>T |
p.D97Y |
Chr.21:
17551827-17551827
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|
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c.386C>A |
p.A129E |
Chr.21:
17551924-17551924
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|
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c.392A>G |
p.K131R |
Chr.21:
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|
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c.340G>C |
p.D114H |
Chr.21:
17551878-17551878
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c.324G>A |
p.T108T |
Chr.21:
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c.324G>A |
p.T108T |
Chr.21:
17551862-17551862
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