NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)
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rs137853303
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0.00002
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NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)
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rs121434590
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0.00001
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NC_000017.10:g.(?_66508520)_(66533875_?)del
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NC_000017.10:g.(?_66508520)_(66548013_?)del
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NC_000017.10:g.(?_66518887)_(66519967_?)del
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NC_000017.11:g.(?_68512379)_(68515586_?)del
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NC_000017.11:g.(?_68512379)_(68524087_?)del
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NC_000017.11:g.(?_68512379)_(68530459_?)del
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NC_000017.11:g.(?_68515384)_(68529001_?)del
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NC_000017.11:g.(?_68515394)_(68530455_?)del
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NC_000017.11:g.(?_68522746)_(68530459_?)del
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NM_002734.4(PRKAR1A):c.770_771del
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rs2085876656
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NM_002734.5(PRKAR1A):c.1054C>T (p.Arg352Ter)
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NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
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rs387906692
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NM_002734.5(PRKAR1A):c.124C>T (p.Arg42Ter)
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rs281864782
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NM_002734.5(PRKAR1A):c.177+1G>A
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rs1555811753
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NM_002734.5(PRKAR1A):c.190_203del (p.Gln64fs)
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rs2143272157
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NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)
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rs281864779
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NM_002734.5(PRKAR1A):c.221_230del (p.Arg74fs)
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rs2085657588
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NM_002734.5(PRKAR1A):c.286C>T (p.Arg96Ter)
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rs281864783
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NM_002734.5(PRKAR1A):c.289C>T (p.Arg97Ter)
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rs1555813217
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NM_002734.5(PRKAR1A):c.330_338dup (p.Tyr113Ter)
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rs2143275431
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NM_002734.5(PRKAR1A):c.340del (p.Val114fs)
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rs2143275771
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NM_002734.5(PRKAR1A):c.431_440del (p.Asn144fs)
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rs2085693506
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NM_002734.5(PRKAR1A):c.440+1G>A
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rs2143289454
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NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)
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rs886041228
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NM_002734.5(PRKAR1A):c.479del (p.Ala160fs)
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rs2143293708
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NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)
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rs281864790
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NM_002734.5(PRKAR1A):c.493_497delinsGGCCTCTGTAAGGTAAGG (p.Ile165fs)
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NM_002734.5(PRKAR1A):c.502+1G>A
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rs1555813578
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NM_002734.5(PRKAR1A):c.502+1G>C
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rs1555813578
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NM_002734.5(PRKAR1A):c.502+2T>G
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NM_002734.5(PRKAR1A):c.531_534del (p.Asp178fs)
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rs2085739247
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NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter)
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rs141913727
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NM_002734.5(PRKAR1A):c.545dup (p.Asp183fs)
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rs2143307557
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NM_002734.5(PRKAR1A):c.590dup (p.Gly198fs)
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rs2143322263
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NM_002734.5(PRKAR1A):c.623del (p.Gly208fs)
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rs727503379
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NM_002734.5(PRKAR1A):c.629del (p.Pro210fs)
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rs2143322920
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NM_002734.5(PRKAR1A):c.662_663del (p.Val221fs)
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rs1568698487
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NM_002734.5(PRKAR1A):c.671G>A (p.Trp224Ter)
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rs1568698504
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NM_002734.5(PRKAR1A):c.682C>T (p.Arg228Ter)
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rs281864784
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NM_002734.5(PRKAR1A):c.708+1G>T
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rs281864798
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NM_002734.5(PRKAR1A):c.709-7_709-2del
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rs281864801
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NM_002734.5(PRKAR1A):c.715A>G (p.Thr239Ala)
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NM_002734.5(PRKAR1A):c.718dup (p.Leu240fs)
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rs2143350378
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NM_002734.5(PRKAR1A):c.738T>G (p.Tyr246Ter)
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rs886041351
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NM_002734.5(PRKAR1A):c.761_762del (p.Ser254fs)
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NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer)
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NM_002734.5(PRKAR1A):c.764_768del (p.Ile255fs)
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rs1555814477
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NM_002734.5(PRKAR1A):c.786G>A (p.Trp262Ter)
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NM_002734.5(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer)
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rs281864785
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NM_002734.5(PRKAR1A):c.787G>T (p.Glu263Ter)
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NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs)
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NM_002734.5(PRKAR1A):c.812dup (p.Leu271fs)
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rs1568701362
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NM_002734.5(PRKAR1A):c.877T>A (p.Phe293Ile)
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NM_002734.5(PRKAR1A):c.891+3A>G
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rs281864799
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NM_002734.5(PRKAR1A):c.926_930del (p.Asn309fs)
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rs2143383396
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NM_002734.5(PRKAR1A):c.932_933del (p.Glu311fs)
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NM_002734.5(PRKAR1A):c.940G>T (p.Glu314Ter)
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NM_002734.5(PRKAR1A):c.97del (p.Asp33fs)
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rs2143151469
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NM_002734.5(PRKAR1A):c.998del (p.Arg333fs)
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NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del)
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