NM_016188.5(ACTL6B):c.*98T>A
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rs1052897
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0.88580
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NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg)
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rs986702153
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0.00001
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NM_016188.5(ACTL6B):c.1225del (p.Ser409fs)
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rs774562545
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0.00001
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NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)
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rs1584466132
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0.00001
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NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?)
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rs998928845
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0.00001
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NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)
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rs757603505
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0.00001
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NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)
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rs1562848556
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0.00001
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NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)
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rs1060499738
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0.00001
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NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His)
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rs1803830368
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NM_016188.5(ACTL6B):c.1016C>T (p.Pro339Leu)
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NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
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rs1131692228
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NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)
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rs955171017
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NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)
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rs755138493
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NM_016188.5(ACTL6B):c.1114-1G>A
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|
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NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
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|
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NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)
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rs2131330754
|
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NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp)
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rs746964903
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NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)
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NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)
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rs1562851259
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NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)
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NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)
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rs929755522
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NM_016188.5(ACTL6B):c.369+1G>C
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|
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NM_016188.5(ACTL6B):c.370-1G>A
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|
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NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)
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rs772520618
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NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe)
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rs2131335751
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NM_016188.5(ACTL6B):c.465del (p.Ala156fs)
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rs2131335747
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NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)
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|
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NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro)
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rs2131334872
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NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)
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rs1584468891
|
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NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)
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rs1562848909
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NM_016188.5(ACTL6B):c.628del (p.Met210fs)
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|
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NM_016188.5(ACTL6B):c.695C>G (p.Pro232Arg)
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|
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NM_016188.5(ACTL6B):c.695del (p.Pro232fs)
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rs779550102
|
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NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
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|
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NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)
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|
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NM_016188.5(ACTL6B):c.70C>T (p.Arg24Cys)
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|
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NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)
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rs1562848568
|
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NM_016188.5(ACTL6B):c.760-1G>A
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|
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NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)
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rs1562848425
|
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NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)
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|
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NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)
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rs141640000
|
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NM_016188.5(ACTL6B):c.85G>A (p.Gly29Arg)
|
|
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NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)
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|
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NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)
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NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys)
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rs1803836293
|
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NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter)
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rs2131333638
|
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NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter)
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rs1562848142
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