NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
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rs150951454
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0.00001
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NC_000015.9:g.(?_93547827)_(93558159_?)dup
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NM_001271.4(CHD2):c.1052+1G>T
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NM_001271.4(CHD2):c.1053-2A>C
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NM_001271.4(CHD2):c.1198+2T>C
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NM_001271.4(CHD2):c.1503-2A>G
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NM_001271.4(CHD2):c.1720-155_1727delinsT
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rs1596406306
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NM_001271.4(CHD2):c.1809+1G>A
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rs1057520592
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NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)
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rs2141816539
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NM_001271.4(CHD2):c.2190-1G>C
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rs2053845402
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NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
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rs1596419511
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NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
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NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
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rs1596427937
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NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)
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rs1567149946
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NM_001271.4(CHD2):c.2876+1G>T
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NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)
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rs2141850669
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NM_001271.4(CHD2):c.3237+1G>A
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NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
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NM_001271.4(CHD2):c.3414-2A>G
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NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
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NM_001271.4(CHD2):c.381+1G>A
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rs2053081680
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NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)
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rs2141867671
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NM_001271.4(CHD2):c.3886-1G>C
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NM_001271.4(CHD2):c.390C>T (p.Ser130=)
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rs1555437851
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NM_001271.4(CHD2):c.4009-2A>G
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NM_001271.4(CHD2):c.4137+2T>C
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NM_001271.4(CHD2):c.4278+1G>A
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rs2141873750
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NM_001271.4(CHD2):c.4414-2A>G
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rs2141881521
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NM_001271.4(CHD2):c.443+1G>A
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rs2141755359
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NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
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NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
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rs1596456893
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NM_001271.4(CHD2):c.4906+1G>T
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rs2141888378
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NM_001271.4(CHD2):c.692+1G>C
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rs1555439036
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NM_001271.4(CHD2):c.693-3C>A
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rs2141785016
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NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
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rs1835085971
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NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)
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rs1833622746
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NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
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NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)
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rs1554767317
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NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu)
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rs1554781553
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NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys)
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rs2131283599
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NM_004408.4(DNM1):c.236-2A>C
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NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)
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rs1554772959
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NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)
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rs1057524561
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