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NC_000007.13:g.(?_75931813)_(75933510_?)dup
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NC_000007.14:g.(?_76301442)_(76304183_?)dup
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NM_001540.4(HSPB1):c.-122G>T
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rs553127513 |
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NM_001540.4(HSPB1):c.-129G>T
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rs886062446 |
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NM_001540.5(HSPB1):c.*116C>T
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NM_001540.5(HSPB1):c.-15G>A
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rs756260929 |
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NM_001540.5(HSPB1):c.-4C>T
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rs372833436 |
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NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
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rs1554614432 |
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NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
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rs557327165 |
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NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
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rs1393404971 |
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NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
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NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)
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rs778311776 |
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NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
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NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
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NM_001540.5(HSPB1):c.172del (p.Leu58fs)
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NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
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rs773864816 |
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NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
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NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
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NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
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NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
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NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
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rs757158514 |
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NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)
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rs1405359814 |
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NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
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rs749963653 |
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NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
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rs11547168 |
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NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)
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rs1231796327 |
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NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
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NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
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NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
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NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn)
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rs1563651975 |
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NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
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rs770272088 |
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NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
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rs770272088 |
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NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
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NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
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NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)
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rs749378020 |
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NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
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NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)
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rs1060503022 |
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NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
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rs777201941 |
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NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
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NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
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NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
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rs761660005 |
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NM_001540.5(HSPB1):c.29T>A (p.Leu10His)
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rs772216758 |
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NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
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NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
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rs765142574 |
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NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
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NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
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NM_001540.5(HSPB1):c.364+6C>G
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rs753061670 |
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NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
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rs780988351 |
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NM_001540.5(HSPB1):c.365-13C>T
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rs767168094 |
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NM_001540.5(HSPB1):c.365-67C>T
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rs1583965825 |
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NM_001540.5(HSPB1):c.365-6C>G
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rs200902768 |
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NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
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NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)
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rs755233365 |
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NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
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rs145243219 |
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NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del)
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rs1554614633 |
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NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
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NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)
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rs1475184454 |
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NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
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rs587781250 |
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NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
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rs558882005 |
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NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
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rs1583966042 |
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NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
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NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
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rs766728475 |
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NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)
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rs28939680 |
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NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
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rs28939680 |
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NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
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rs28939680 |
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NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
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rs863225022 |
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NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
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rs1554614650 |
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NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
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NM_001540.5(HSPB1):c.428+5G>C
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NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
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rs748414486 |
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NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro)
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rs771232749 |
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NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
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rs28937568 |
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NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)
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rs780878780 |
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NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
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rs1240900244 |
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NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
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rs1032400275 |
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NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
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rs863225023 |
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NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
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NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
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rs1422978230 |
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NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
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rs1422978230 |
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NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
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NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
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NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)
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rs777225392 |
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NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
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rs772767500 |
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NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
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NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
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rs771457306 |
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NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
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NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
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rs1276065076 |
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NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
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NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
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NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
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rs367857772 |
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NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
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rs367857772 |
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NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
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NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
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NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
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rs367662394 |
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NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
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rs367662394 |
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NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
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