6146472 |
c.1540G>T |
p.D514Y |
Chr.17:
41821794-41821794
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|
4066451 |
c.748C>T |
p.L250L |
Chr.17:
41821683-41821683
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|
5386368 |
c.820C>T |
p.P274S |
Chr.17:
41821755-41821755
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|
6146470 |
c.1545C>A |
p.G515G |
Chr.17:
41821799-41821799
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|
353948 |
c.1557G>A |
p.P519P |
Chr.17:
41821811-41821811
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|
4066453 |
c.773G>A |
p.R258Q |
Chr.17:
41821708-41821708
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|
6664217 |
c.1545C>G |
p.G515G |
Chr.17:
41821799-41821799
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|
436607 |
c.1459G>A |
p.D487N |
Chr.17:
41821713-41821713
on Build GRCh38
|
5195046 |
c.778G>A |
p.D260N |
Chr.17:
41821713-41821713
on Build GRCh38
|
4066452 |
c.1454G>A |
p.R485Q |
Chr.17:
41821708-41821708
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|
4066450 |
c.1429C>T |
p.L477L |
Chr.17:
41821683-41821683
on Build GRCh38
|
4753368 |
c.1441G>A |
p.E481K |
Chr.17:
41821695-41821695
on Build GRCh38
|
3187893 |
c.1556C>T |
p.P519L |
Chr.17:
41821810-41821810
on Build GRCh38
|
4468651 |
c.874C>T |
p.P292S |
Chr.17:
41821809-41821809
on Build GRCh38
|
6032978 |
c.864C>T |
p.G288G |
Chr.17:
41821799-41821799
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|
6146471 |
c.864C>A |
p.G288G |
Chr.17:
41821799-41821799
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|
5386367 |
c.1501C>T |
p.P501S |
Chr.17:
41821755-41821755
on Build GRCh38
|
6230091 |
c.1475G>A |
p.G492D |
Chr.17:
41821729-41821729
on Build GRCh38
|
4468650 |
c.1555C>T |
p.P519S |
Chr.17:
41821809-41821809
on Build GRCh38
|
1252473 |
c.1464G>A |
p.G488G |
Chr.17:
41821718-41821718
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|
361887 |
c.1552C>T |
p.P518S |
Chr.17:
41821806-41821806
on Build GRCh38
|
5531283 |
c.721C>T |
p.R241W |
Chr.17:
41821656-41821656
on Build GRCh38
|
5638364 |
c.828C>T |
p.A276A |
Chr.17:
41821763-41821763
on Build GRCh38
|
4564792 |
c.774_775GG>AA |
p.E259K |
Chr.17:
41821709-41821710
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|
4564791 |
c.1455_1456GG>AA |
p.E486K |
Chr.17:
41821709-41821710
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|
6417899 |
c.1432T>A |
p.F478I |
Chr.17:
41821686-41821686
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|
4528766 |
c.1561G>A |
p.E521K |
Chr.17:
41821815-41821815
on Build GRCh38
|
5638363 |
c.1509C>T |
p.A503A |
Chr.17:
41821763-41821763
on Build GRCh38
|
4528748 |
c.879G>A |
p.E293E |
Chr.17:
41821814-41821814
on Build GRCh38
|
4528747 |
c.1560G>A |
p.E520E |
Chr.17:
41821814-41821814
on Build GRCh38
|
4528767 |
c.880G>A |
p.E294K |
Chr.17:
41821815-41821815
on Build GRCh38
|
4528465 |
c.1539G>T |
p.K513N |
Chr.17:
41821793-41821793
on Build GRCh38
|
6230092 |
c.794G>A |
p.G265D |
Chr.17:
41821729-41821729
on Build GRCh38
|
4526598 |
c.723G>A |
p.R241R |
Chr.17:
41821658-41821658
on Build GRCh38
|
5531282 |
c.1402C>T |
p.R468W |
Chr.17:
41821656-41821656
on Build GRCh38
|
4526597 |
c.1404G>A |
p.R468R |
Chr.17:
41821658-41821658
on Build GRCh38
|
4528466 |
c.858G>T |
p.K286N |
Chr.17:
41821793-41821793
on Build GRCh38
|
6146473 |
c.859G>T |
p.D287Y |
Chr.17:
41821794-41821794
on Build GRCh38
|
3187894 |
c.875C>T |
p.P292L |
Chr.17:
41821810-41821810
on Build GRCh38
|
4747047 |
c.1557_1559delGGA |
p.E521delE |
Chr.17:
41821811-41821813
on Build GRCh38
|
4753369 |
c.760G>A |
p.E254K |
Chr.17:
41821695-41821695
on Build GRCh38
|
7150291 |
c.876G>A |
p.P292P |
Chr.17:
41821811-41821811
on Build GRCh38
|
237402 |
c.1563+10G>A |
p.? |
Chr.17:
41821827-41821827
on Build GRCh38
|
6664218 |
c.864C>G |
p.G288G |
Chr.17:
41821799-41821799
on Build GRCh38
|
4747048 |
c.876_878delGGA |
p.E294delE |
Chr.17:
41821811-41821813
on Build GRCh38
|
979330 |
c.1545C>T |
p.G515G |
Chr.17:
41821799-41821799
on Build GRCh38
|
6417900 |
c.751T>A |
p.F251I |
Chr.17:
41821686-41821686
on Build GRCh38
|