NM_003126.4(SPTA1):c.6531-12C>T
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rs28525570
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0.25447
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NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)
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rs7418956
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0.01431
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NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
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rs121918643
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0.00019
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NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
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rs121918634
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0.00006
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NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
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rs121918636
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0.00003
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NM_003126.4(SPTA1):c.1086A>G (p.Arg362=)
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rs1374378636
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0.00001
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NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)
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rs751026146
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0.00001
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NM_003126.4(SPTA1):c.4339-2A>C
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rs368931075
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0.00001
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NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter)
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rs749880846
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0.00001
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NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
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rs567686069
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NM_003126.4(SPTA1):c.1112+1G>T
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NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
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NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr)
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NM_003126.4(SPTA1):c.1350+1G>C
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NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
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rs775280006
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NM_003126.4(SPTA1):c.1514delinsTA (p.Gly505fs)
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NM_003126.4(SPTA1):c.165dup (p.Gln56fs)
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rs2101958311
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NM_003126.4(SPTA1):c.173del (p.Phe58fs)
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NM_003126.4(SPTA1):c.1833+1G>A
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rs1035389616
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NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter)
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NM_003126.4(SPTA1):c.2038+1G>A
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rs199883479
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NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg)
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rs2101904247
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NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter)
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rs2101900643
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NM_003126.4(SPTA1):c.2335_2351delinsGCTCTCA (p.Lys779fs)
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NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter)
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rs2101892539
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NM_003126.4(SPTA1):c.2464+1G>A
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rs774632615
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NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
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NM_003126.4(SPTA1):c.262C>T (p.Gln88Ter)
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rs2101957676
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NM_003126.4(SPTA1):c.2898+2T>C
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NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
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rs539524312
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NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
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NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
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NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter)
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rs2101868872
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NM_003126.4(SPTA1):c.3037-2A>G
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NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
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NM_003126.4(SPTA1):c.3376-1G>A
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NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
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NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
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NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
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NM_003126.4(SPTA1):c.390+1G>A
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rs2101951549
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NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
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NM_003126.4(SPTA1):c.4194+1del
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rs2101837157
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NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
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NM_003126.4(SPTA1):c.4339-1G>T
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NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
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NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs)
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rs2101829513
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NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
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rs757679761
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NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)
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rs749754226
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NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter)
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rs2101819646
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NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter)
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NM_003126.4(SPTA1):c.4del (p.Glu2fs)
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NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
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NM_003126.4(SPTA1):c.5249del (p.Asn1750fs)
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NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
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NM_003126.4(SPTA1):c.5566-2A>T
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NM_003126.4(SPTA1):c.5665-2A>G
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NM_003126.4(SPTA1):c.5833+1G>A
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NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter)
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NM_003126.4(SPTA1):c.60del (p.Ala21fs)
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rs1655094479
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NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
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NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs)
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rs2101760572
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NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
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NM_003126.4(SPTA1):c.6414del (p.Ile2138fs)
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rs767854151
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NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)
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rs2101942740
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NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
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NM_003126.4(SPTA1):c.6788+1G>A
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NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter)
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rs1064795113
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NM_003126.4(SPTA1):c.7134+2T>G
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NM_003126.4(SPTA1):c.798dup (p.Gln267fs)
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NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
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NM_003126.4(SPTA1):c.812+1G>A
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NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter)
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rs1131691810
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NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
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rs121918641
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NM_003126.4(SPTA1):c.955A>T (p.Lys319Ter)
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NM_003126.4(SPTA1):c.957+1G>A
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rs373407146
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NM_003126.4(SPTA1):c.958-1G>T
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