NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)
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rs374462247
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0.00020
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NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
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rs727504039
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0.00005
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NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met)
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rs149099378
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0.00005
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NM_001291867.2(NHS):c.3479C>T (p.Thr1160Ile)
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rs752248694
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0.00004
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NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)
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rs746433521
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0.00002
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NM_001291867.2(NHS):c.484C>T (p.Arg162Cys)
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rs745648326
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0.00002
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NM_001291867.2(NHS):c.503A>G (p.Gln168Arg)
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rs769860109
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0.00002
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NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)
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rs749420963
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0.00001
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NM_001291867.2(NHS):c.692G>A (p.Arg231Gln)
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rs757440505
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0.00001
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NC_000023.10:g.(?_17393881)_(17710608_?)dup
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NC_000023.10:g.(?_17393881)_(20284750_?)dup
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NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)
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NM_001291867.2(NHS):c.106C>T (p.Pro36Ser)
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NM_001291867.2(NHS):c.1074G>A (p.Val358=)
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rs2066406785
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NM_001291867.2(NHS):c.1108+3A>T
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NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg)
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rs727504041
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NM_001291867.2(NHS):c.1150G>A (p.Val384Ile)
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NM_001291867.2(NHS):c.1160A>G (p.Gln387Arg)
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rs2147140956
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NM_001291867.2(NHS):c.1208C>T (p.Ser403Leu)
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NM_001291867.2(NHS):c.1301C>A (p.Pro434His)
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NM_001291867.2(NHS):c.136C>G (p.Leu46Val)
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NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)
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NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)
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NM_001291867.2(NHS):c.1502G>A (p.Arg501His)
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NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)
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NM_001291867.2(NHS):c.1532G>T (p.Gly511Val)
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NM_001291867.2(NHS):c.1543G>A (p.Gly515Arg)
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NM_001291867.2(NHS):c.1574C>G (p.Pro525Arg)
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NM_001291867.2(NHS):c.1674G>C (p.Gln558His)
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NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
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NM_001291867.2(NHS):c.1732G>A (p.Glu578Lys)
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NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)
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rs797045739
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NM_001291867.2(NHS):c.1793C>T (p.Ser598Phe)
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NM_001291867.2(NHS):c.1843G>A (p.Val615Ile)
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NM_001291867.2(NHS):c.1895G>C (p.Gly632Ala)
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NM_001291867.2(NHS):c.1903A>G (p.Ser635Gly)
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NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)
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NM_001291867.2(NHS):c.1997A>G (p.Glu666Gly)
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NM_001291867.2(NHS):c.2131G>C (p.Asp711His)
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NM_001291867.2(NHS):c.2188C>T (p.His730Tyr)
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NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)
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NM_001291867.2(NHS):c.2371G>T (p.Asp791Tyr)
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NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)
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NM_001291867.2(NHS):c.2546C>T (p.Pro849Leu)
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NM_001291867.2(NHS):c.2573T>C (p.Leu858Ser)
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NM_001291867.2(NHS):c.2669T>C (p.Leu890Pro)
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NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)
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NM_001291867.2(NHS):c.2723C>T (p.Thr908Ile)
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NM_001291867.2(NHS):c.2806A>G (p.Lys936Glu)
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NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys)
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NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)
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NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup)
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rs398124607
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NM_001291867.2(NHS):c.309_350del (p.Pro104_Ala117del)
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rs1382204112
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NM_001291867.2(NHS):c.3151A>C (p.Lys1051Gln)
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NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)
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NM_001291867.2(NHS):c.3313C>T (p.Arg1105Cys)
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NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del)
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rs587780401
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NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)
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NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala)
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NM_001291867.2(NHS):c.3386C>A (p.Pro1129Gln)
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NM_001291867.2(NHS):c.3397A>G (p.Ile1133Val)
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NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)
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NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)
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NM_001291867.2(NHS):c.3611_3612delinsGA (p.Asp1204Gly)
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NM_001291867.2(NHS):c.3628A>G (p.Met1210Val)
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NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)
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NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)
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NM_001291867.2(NHS):c.3827G>A (p.Arg1276Lys)
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NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)
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NM_001291867.2(NHS):c.4031T>G (p.Phe1344Cys)
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NM_001291867.2(NHS):c.410G>C (p.Arg137Pro)
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NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr)
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NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys)
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NM_001291867.2(NHS):c.4186G>A (p.Glu1396Lys)
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NM_001291867.2(NHS):c.424G>C (p.Val142Leu)
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NM_001291867.2(NHS):c.4417C>A (p.Pro1473Thr)
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NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)
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NM_001291867.2(NHS):c.4513C>T (p.Arg1505Ter)
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NM_001291867.2(NHS):c.4540A>G (p.Asn1514Asp)
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NM_001291867.2(NHS):c.4582T>C (p.Ser1528Pro)
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rs2066491321
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NM_001291867.2(NHS):c.4637C>A (p.Pro1546His)
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NM_001291867.2(NHS):c.4699T>C (p.Ser1567Pro)
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NM_001291867.2(NHS):c.4780G>A (p.Ala1594Thr)
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NM_001291867.2(NHS):c.4882G>A (p.Ala1628Thr)
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rs2066494567
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NM_001291867.2(NHS):c.490G>A (p.Val164Ile)
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NM_001291867.2(NHS):c.517G>A (p.Gly173Ser)
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NM_001291867.2(NHS):c.554A>G (p.Gln185Arg)
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NM_001291867.2(NHS):c.565+5G>A
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rs1064795101
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NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys)
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NM_001291867.2(NHS):c.611G>A (p.Arg204His)
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NM_001291867.2(NHS):c.613G>A (p.Ala205Thr)
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NM_001291867.2(NHS):c.719-3C>T
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NM_001291867.2(NHS):c.719-9C>G
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NM_001291867.2(NHS):c.736G>T (p.Asp246Tyr)
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NM_001291867.2(NHS):c.779C>T (p.Ala260Val)
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rs1254733025
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NM_001291867.2(NHS):c.824G>A (p.Arg275His)
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NM_001291867.2(NHS):c.844T>G (p.Phe282Val)
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NM_001291867.2(NHS):c.86G>T (p.Gly29Val)
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NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)
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NM_001291867.2(NHS):c.976A>G (p.Ile326Val)
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