NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
|
rs1800053
|
0.00123
|
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)
|
rs137852569
|
0.00001
|
NM_000044.6(AR):c.2157G>A (p.Trp719Ter)
|
rs137852563
|
0.00001
|
AR, PARTIAL DEL
|
|
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NG_009014.2:g.(7732_?)del
|
|
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NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
|
|
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NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
|
|
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NM_000044.6(AR):c.1732G>A (p.Gly578Arg)
|
rs137852596
|
|
NM_000044.6(AR):c.1739G>T (p.Cys580Phe)
|
rs137852586
|
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NM_000044.6(AR):c.1748T>A (p.Phe583Tyr)
|
rs137852587
|
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NM_000044.6(AR):c.1769-11T>A
|
rs2147497386
|
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NM_000044.6(AR):c.1771A>T (p.Lys591Ter)
|
rs137852566
|
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NM_000044.6(AR):c.178C>T (p.Gln60Ter)
|
rs137852575
|
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NM_000044.6(AR):c.179dup (p.Gln61fs)
|
rs759327087
|
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NM_000044.6(AR):c.180_181del (p.Gln61fs)
|
rs869320731
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
NM_000044.6(AR):c.2033T>C (p.Leu678Pro)
|
rs137852579
|
|
NM_000044.6(AR):c.2069A>C (p.His690Pro)
|
rs137852599
|
|
NM_000044.6(AR):c.2123T>G (p.Leu708Arg)
|
rs137852585
|
|
NM_000044.6(AR):c.2137C>T (p.Leu713Phe)
|
rs137852595
|
|
NM_000044.6(AR):c.2222C>G (p.Ser741Cys)
|
rs137852601
|
|
NM_000044.6(AR):c.2231G>A (p.Gly744Glu)
|
rs137852600
|
|
NM_000044.6(AR):c.2231G>T (p.Gly744Val)
|
rs137852600
|
|
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs)
|
rs869320732
|
|
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys)
|
rs137852567
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2324G>A (p.Arg775His)
|
rs137852572
|
|
NM_000044.6(AR):c.2343G>T (p.Met781Ile)
|
rs137852589
|
|
NM_000044.6(AR):c.2362A>G (p.Met788Val)
|
rs137852570
|
|
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)
|
rs137852565
|
|
NM_000044.6(AR):c.2423T>C (p.Met808Thr)
|
rs137852592
|
|
NM_000044.6(AR):c.2449+5G>T
|
rs1602278831
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.2571C>G (p.Phe857Leu)
|
rs137852598
|
|
NM_000044.6(AR):c.2596T>C (p.Ser866Pro)
|
rs137852597
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2599G>T (p.Val867Leu)
|
rs137852564
|
|
NM_000044.6(AR):c.2650A>T (p.Lys884Ter)
|
rs137852568
|
|
NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
|
NM_000044.6(AR):c.4G>A (p.Glu2Lys)
|
rs104894742
|
|
NM_000044.6(AR):c.521T>G (p.Leu174Ter)
|
rs137852590
|
|