NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)
|
rs3747295
|
0.29823
|
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)
|
rs56908561
|
0.02903
|
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)
|
rs56691712
|
0.02899
|
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)
|
rs149244552
|
0.00386
|
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)
|
rs145977627
|
0.00189
|
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)
|
rs149609550
|
0.00131
|
NM_001291867.2(NHS):c.828G>A (p.Glu276=)
|
rs147497359
|
0.00096
|
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)
|
rs143081492
|
0.00089
|
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)
|
rs140651691
|
0.00086
|
NM_001291867.2(NHS):c.765C>G (p.Pro255=)
|
rs143119491
|
0.00086
|
NM_001291867.2(NHS):c.688G>A (p.Ala230Thr)
|
rs78153843
|
0.00082
|
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn)
|
rs142186771
|
0.00081
|
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)
|
rs140904281
|
0.00075
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)
|
rs151009077
|
0.00069
|
NM_001291867.2(NHS):c.204A>G (p.Pro68=)
|
rs775588477
|
0.00069
|
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)
|
rs145200841
|
0.00056
|
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)
|
rs2071848
|
0.00055
|
NM_001291867.2(NHS):c.666C>T (p.Cys222=)
|
rs138104885
|
0.00055
|
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596
|
0.00053
|
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)
|
rs146437542
|
0.00044
|
NM_001291867.2(NHS):c.258A>G (p.Gly86=)
|
rs1026332275
|
0.00038
|
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)
|
rs141013518
|
0.00037
|
NM_001291867.2(NHS):c.1603G>A (p.Val535Met)
|
rs367856134
|
0.00028
|
NM_001291867.2(NHS):c.1748G>A (p.Arg583His)
|
rs143289369
|
0.00028
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)
|
rs773995388
|
0.00026
|
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala)
|
rs368703052
|
0.00026
|
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)
|
rs374462247
|
0.00020
|
NM_001291867.2(NHS):c.1919C>T (p.Thr640Met)
|
rs372391693
|
0.00019
|
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)
|
rs148418212
|
0.00019
|
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)
|
rs201263814
|
0.00016
|
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)
|
rs369785842
|
0.00016
|
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu)
|
rs199789055
|
0.00014
|
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)
|
rs727504042
|
0.00012
|
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)
|
rs375878222
|
0.00012
|
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser)
|
rs184275083
|
0.00012
|
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr)
|
rs187739639
|
0.00011
|
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu)
|
rs150689121
|
0.00009
|
NM_001291867.2(NHS):c.2709C>T (p.Asn903=)
|
rs771010114
|
0.00009
|
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)
|
rs762685365
|
0.00009
|
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)
|
rs200598087
|
0.00009
|
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met)
|
rs373464879
|
0.00008
|
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=)
|
rs150235442
|
0.00008
|
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)
|
rs766379688
|
0.00008
|
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)
|
rs372969054
|
0.00007
|
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)
|
rs371229391
|
0.00006
|
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)
|
rs193921046
|
0.00006
|
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
|
rs727504039
|
0.00005
|
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met)
|
rs149099378
|
0.00005
|
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met)
|
rs367919114
|
0.00005
|
NM_001291867.2(NHS):c.618G>A (p.Pro206=)
|
rs200952266
|
0.00005
|
NM_001291867.2(NHS):c.966G>A (p.Pro322=)
|
rs745327335
|
0.00005
|
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)
|
rs200321491
|
0.00004
|
NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr)
|
rs192848792
|
0.00004
|
NM_001291867.2(NHS):c.3479C>T (p.Thr1160Ile)
|
rs752248694
|
0.00004
|
NM_001291867.2(NHS):c.4083G>A (p.Ser1361=)
|
rs142564431
|
0.00004
|
NM_001291867.2(NHS):c.2047G>A (p.Val683Met)
|
rs587780403
|
0.00003
|
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly)
|
rs189687959
|
0.00003
|
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=)
|
rs761212213
|
0.00003
|
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)
|
rs746433521
|
0.00002
|
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val)
|
rs775816596
|
0.00002
|
NM_001291867.2(NHS):c.1929G>A (p.Ser643=)
|
rs143564715
|
0.00002
|
NM_001291867.2(NHS):c.2683G>A (p.Ala895Thr)
|
rs770236873
|
0.00002
|
NM_001291867.2(NHS):c.2887C>T (p.Leu963=)
|
rs757651281
|
0.00002
|
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=)
|
rs1157246576
|
0.00002
|
NM_001291867.2(NHS):c.3141C>T (p.Pro1047=)
|
rs777688578
|
0.00002
|
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His)
|
rs141525588
|
0.00002
|
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr)
|
rs1192248368
|
0.00002
|
NM_001291867.2(NHS):c.484C>T (p.Arg162Cys)
|
rs745648326
|
0.00002
|
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg)
|
rs769860109
|
0.00002
|
NM_001291867.2(NHS):c.2277T>C (p.Tyr759=)
|
rs1323986389
|
0.00001
|
NM_001291867.2(NHS):c.3131C>T (p.Pro1044Leu)
|
rs748149517
|
0.00001
|
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=)
|
rs761463158
|
0.00001
|
NM_001291867.2(NHS):c.612C>T (p.Arg204=)
|
rs777799752
|
0.00001
|
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)
|
rs749420963
|
0.00001
|
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln)
|
rs757440505
|
0.00001
|
NM_001291867.2(NHS):c.822G>A (p.Arg274=)
|
rs1192420369
|
0.00001
|
NC_000023.10:g.(?_17393861)_(17653740_?)del
|
|
|
NC_000023.10:g.(?_17393861)_(17753592_?)del
|
|
|
NC_000023.10:g.(?_17393881)_(17710608_?)dup
|
|
|
NC_000023.10:g.(?_17705842)_(17710608_?)del
|
|
|
NC_000023.10:g.(?_17710435)_(17750584_?)del
|
|
|
NC_000023.11:g.(?_17687722)_(17692488_?)dup
|
|
|
NC_000023.11:g.(?_17692315)_(17692488_?)del
|
|
|
NM_001291867.2(NHS):c.*3008T>A
|
|
|
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)
|
|
|
NM_001291867.2(NHS):c.1035C>T (p.Leu345=)
|
|
|
NM_001291867.2(NHS):c.1041G>A (p.Thr347=)
|
|
|
NM_001291867.2(NHS):c.106C>T (p.Pro36Ser)
|
|
|
NM_001291867.2(NHS):c.1074G>A (p.Val358=)
|
rs2066406785
|
|
NM_001291867.2(NHS):c.1084del (p.Cys362fs)
|
|
|
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
|
|
|
NM_001291867.2(NHS):c.1105dup (p.Thr369fs)
|
rs2066406973
|
|
NM_001291867.2(NHS):c.1108+3A>T
|
|
|
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg)
|
rs727504041
|
|
NM_001291867.2(NHS):c.1109-18C>A
|
|
|
NM_001291867.2(NHS):c.1120G>A (p.Asp374Asn)
|
|
|
NM_001291867.2(NHS):c.1122C>T (p.Asp374=)
|
|
|
NM_001291867.2(NHS):c.1131T>A (p.Ala377=)
|
|
|
NM_001291867.2(NHS):c.1150G>A (p.Val384Ile)
|
|
|
NM_001291867.2(NHS):c.1159C>T (p.Gln387Ter)
|
rs2147140951
|
|
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter)
|
rs104894881
|
|
NM_001291867.2(NHS):c.1160A>G (p.Gln387Arg)
|
rs2147140956
|
|
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)
|
rs132630322
|
|
NM_001291867.2(NHS):c.1190GGA[2] (p.Arg399del)
|
|
|
NM_001291867.2(NHS):c.1203C>T (p.Thr401=)
|
|
|
NM_001291867.2(NHS):c.1208C>T (p.Ser403Leu)
|
|
|
NM_001291867.2(NHS):c.120G>T (p.Pro40=)
|
|
|
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter)
|
rs1556038028
|
|
NM_001291867.2(NHS):c.1246G>C (p.Asp416His)
|
|
|
NM_001291867.2(NHS):c.1301C>A (p.Pro434His)
|
|
|
NM_001291867.2(NHS):c.1326C>T (p.Ser442=)
|
|
|
NM_001291867.2(NHS):c.134dup (p.Asp45fs)
|
|
|
NM_001291867.2(NHS):c.136C>G (p.Leu46Val)
|
|
|
NM_001291867.2(NHS):c.1386G>A (p.Arg462=)
|
|
|
NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001291867.2(NHS):c.1443C>G (p.Gly481=)
|
|
|
NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs)
|
rs1556038355
|
|
NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)
|
|
|
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
|
|
|
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)
|
|
|
NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys)
|
rs770144581
|
|
NM_001291867.2(NHS):c.1502G>A (p.Arg501His)
|
|
|
NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)
|
|
|
NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)
|
|
|
NM_001291867.2(NHS):c.1527G>A (p.Arg509=)
|
|
|
NM_001291867.2(NHS):c.1532G>T (p.Gly511Val)
|
|
|
NM_001291867.2(NHS):c.1543G>A (p.Gly515Arg)
|
|
|
NM_001291867.2(NHS):c.1566C>T (p.Gly522=)
|
|
|
NM_001291867.2(NHS):c.1574C>G (p.Pro525Arg)
|
|
|
NM_001291867.2(NHS):c.1645C>T (p.Pro549Ser)
|
|
|
NM_001291867.2(NHS):c.1647A>G (p.Pro549=)
|
|
|
NM_001291867.2(NHS):c.165G>A (p.Glu55=)
|
|
|
NM_001291867.2(NHS):c.1674G>A (p.Gln558=)
|
|
|
NM_001291867.2(NHS):c.1674G>C (p.Gln558His)
|
|
|
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)
|
|
|
NM_001291867.2(NHS):c.1710C>T (p.His570=)
|
|
|
NM_001291867.2(NHS):c.1732G>A (p.Glu578Lys)
|
|
|
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)
|
rs797045739
|
|
NM_001291867.2(NHS):c.1793C>T (p.Ser598Phe)
|
|
|
NM_001291867.2(NHS):c.1796A>G (p.Asn599Ser)
|
|
|
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)
|
|
|
NM_001291867.2(NHS):c.1824C>T (p.His608=)
|
|
|
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)
|
|
|
NM_001291867.2(NHS):c.183C>T (p.Val61=)
|
|
|
NM_001291867.2(NHS):c.1843G>A (p.Val615Ile)
|
|
|
NM_001291867.2(NHS):c.1895G>C (p.Gly632Ala)
|
|
|
NM_001291867.2(NHS):c.1903A>G (p.Ser635Gly)
|
|
|
NM_001291867.2(NHS):c.190C>T (p.Pro64Ser)
|
|
|
NM_001291867.2(NHS):c.1925C>A (p.Pro642His)
|
|
|
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)
|
|
|
NM_001291867.2(NHS):c.197G>C (p.Gly66Ala)
|
|
|
NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)
|
|
|
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
|
|
|
NM_001291867.2(NHS):c.1997A>G (p.Glu666Gly)
|
|
|
NM_001291867.2(NHS):c.206C>G (p.Pro69Arg)
|
|
|
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)
|
rs10590816
|
|
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)
|
|
|
NM_001291867.2(NHS):c.2131G>C (p.Asp711His)
|
|
|
NM_001291867.2(NHS):c.2141ACA[1] (p.Asn715del)
|
|
|
NM_001291867.2(NHS):c.2188C>T (p.His730Tyr)
|
|
|
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
|
|
|
NM_001291867.2(NHS):c.2261C>T (p.Thr754Ile)
|
|
|
NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)
|
|
|
NM_001291867.2(NHS):c.2322C>T (p.Ser774=)
|
|
|
NM_001291867.2(NHS):c.2327_2328del (p.His776fs)
|
rs2066444344
|
|
NM_001291867.2(NHS):c.2371G>T (p.Asp791Tyr)
|
|
|
NM_001291867.2(NHS):c.2448G>A (p.Gly816=)
|
|
|
NM_001291867.2(NHS):c.2450dup (p.Ser818fs)
|
rs786205255
|
|
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter)
|
rs1569319773
|
|
NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)
|
|
|
NM_001291867.2(NHS):c.2546C>T (p.Pro849Leu)
|
|
|
NM_001291867.2(NHS):c.2573T>C (p.Leu858Ser)
|
|
|
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)
|
|
|
NM_001291867.2(NHS):c.2669T>C (p.Leu890Pro)
|
|
|
NM_001291867.2(NHS):c.267C>T (p.Ser89=)
|
|
|
NM_001291867.2(NHS):c.2682C>T (p.Phe894=)
|
|
|
NM_001291867.2(NHS):c.2688C>T (p.Asn896=)
|
|
|
NM_001291867.2(NHS):c.2690C>T (p.Thr897Met)
|
|
|
NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)
|
|
|
NM_001291867.2(NHS):c.2720C>T (p.Pro907Leu)
|
|
|
NM_001291867.2(NHS):c.2721C>T (p.Pro907=)
|
|
|
NM_001291867.2(NHS):c.2723C>T (p.Thr908Ile)
|
|
|
NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)
|
|
|
NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)
|
|
|
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter)
|
rs1341004065
|
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NM_001291867.2(NHS):c.2789C>T (p.Ser930Leu)
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NM_001291867.2(NHS):c.2806A>G (p.Lys936Glu)
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NM_001291867.2(NHS):c.2820C>T (p.Ala940=)
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NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys)
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NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)
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NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)
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NM_001291867.2(NHS):c.2910G>A (p.Thr970=)
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NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)
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NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg)
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NM_001291867.2(NHS):c.3021del (p.Phe1007fs)
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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.3049G>A (p.Gly1017Ser)
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NM_001291867.2(NHS):c.3057A>G (p.Ala1019=)
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rs751373846
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NM_001291867.2(NHS):c.309G>T (p.Ala103=)
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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.310_342del (p.Pro104_Ala114del)
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NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)
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rs797045741
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NM_001291867.2(NHS):c.3132A>G (p.Pro1044=)
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NM_001291867.2(NHS):c.3151A>C (p.Lys1051Gln)
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NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)
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NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)
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NM_001291867.2(NHS):c.3285del (p.His1095fs)
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rs2066454000
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NM_001291867.2(NHS):c.3297C>T (p.Asn1099=)
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NM_001291867.2(NHS):c.3307_3323del (p.His1103fs)
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NM_001291867.2(NHS):c.3313C>T (p.Arg1105Cys)
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NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)
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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[7] (p.Ala117dup)
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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.3351C>T (p.Asn1117=)
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NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)
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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.3387G>A (p.Pro1129=)
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NM_001291867.2(NHS):c.3397A>G (p.Ile1133Val)
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NM_001291867.2(NHS):c.339G>T (p.Ala113=)
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rs1364463762
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NM_001291867.2(NHS):c.3407C>T (p.Thr1136Met)
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NM_001291867.2(NHS):c.3408G>C (p.Thr1136=)
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NM_001291867.2(NHS):c.3456T>C (p.Val1152=)
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NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)
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NM_001291867.2(NHS):c.3522del (p.Leu1175fs)
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rs786205256
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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.3658_3662del (p.Asn1220fs)
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rs1601859570
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NM_001291867.2(NHS):c.3659dup (p.Asn1220fs)
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NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)
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NM_001291867.2(NHS):c.366G>A (p.Leu122=)
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NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)
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NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)
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NM_001291867.2(NHS):c.372dup (p.Cys125fs)
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NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)
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NM_001291867.2(NHS):c.375C>A (p.Cys125Ter)
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rs2064345759
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NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)
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NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)
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NM_001291867.2(NHS):c.3827G>A (p.Arg1276Lys)
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NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)
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NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)
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NM_001291867.2(NHS):c.3890A>G (p.Asp1297Gly)
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NM_001291867.2(NHS):c.3933G>C (p.Leu1311=)
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NM_001291867.2(NHS):c.3937del (p.Glu1313fs)
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NM_001291867.2(NHS):c.3979_3982del (p.Ser1327fs)
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rs2147145062
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NM_001291867.2(NHS):c.3993T>G (p.Thr1331=)
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NM_001291867.2(NHS):c.4030T>C (p.Phe1344Leu)
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NM_001291867.2(NHS):c.4031T>G (p.Phe1344Cys)
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NM_001291867.2(NHS):c.408C>T (p.Leu136=)
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rs1555981412
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NM_001291867.2(NHS):c.410G>C (p.Arg137Pro)
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NM_001291867.2(NHS):c.4110T>C (p.Pro1370=)
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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.4128G>C (p.Gln1376His)
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NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter)
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rs1556039901
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NM_001291867.2(NHS):c.4167T>C (p.Ser1389=)
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rs767452227
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NM_001291867.2(NHS):c.4186G>A (p.Glu1396Lys)
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NM_001291867.2(NHS):c.4222+18T>C
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NM_001291867.2(NHS):c.4223-12T>C
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NM_001291867.2(NHS):c.4233G>A (p.Pro1411=)
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NM_001291867.2(NHS):c.424G>C (p.Val142Leu)
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NM_001291867.2(NHS):c.4263T>C (p.Ser1421=)
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NM_001291867.2(NHS):c.4314T>C (p.Pro1438=)
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NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter)
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rs2147145827
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NM_001291867.2(NHS):c.4380T>C (p.Asp1460=)
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NM_001291867.2(NHS):c.4417C>A (p.Pro1473Thr)
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NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)
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rs398124609
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NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)
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NM_001291867.2(NHS):c.4464C>T (p.Ser1488=)
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NM_001291867.2(NHS):c.447C>G (p.Leu149=)
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NM_001291867.2(NHS):c.4513C>T (p.Arg1505Ter)
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NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)
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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.4627C>A (p.Pro1543Thr)
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NM_001291867.2(NHS):c.4637C>A (p.Pro1546His)
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NM_001291867.2(NHS):c.4676G>C (p.Ser1559Thr)
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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.4824T>C (p.Pro1608=)
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NM_001291867.2(NHS):c.4858C>T (p.Arg1620Trp)
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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.4929C>T (p.Asp1643=)
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NM_001291867.2(NHS):c.502C>T (p.Gln168Ter)
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rs1484691355
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NM_001291867.2(NHS):c.50_53del (p.Arg17fs)
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rs2146834311
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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+17T>C
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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.566-100130A>C
|
rs2146987459
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NM_001291867.2(NHS):c.566-10dup
|
rs5901624
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NM_001291867.2(NHS):c.566-12C>T
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NM_001291867.2(NHS):c.566-13_566-12insA
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NM_001291867.2(NHS):c.566-13_566-12insG
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NM_001291867.2(NHS):c.567C>T (p.Pro189=)
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NM_001291867.2(NHS):c.597G>C (p.Leu199=)
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NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys)
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NM_001291867.2(NHS):c.610C>T (p.Arg204Cys)
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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.667G>A (p.Val223Met)
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NM_001291867.2(NHS):c.687C>T (p.His229=)
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NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)
|
rs875989805
|
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NM_001291867.2(NHS):c.718+13G>A
|
|
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NM_001291867.2(NHS):c.718+1dup
|
rs1556030707
|
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NM_001291867.2(NHS):c.719-1G>A
|
rs1601838818
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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.742C>T (p.Arg248Ter)
|
rs1569310232
|
|
NM_001291867.2(NHS):c.766dup (p.Leu256fs)
|
rs2147115316
|
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NM_001291867.2(NHS):c.779C>T (p.Ala260Val)
|
rs1254733025
|
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NM_001291867.2(NHS):c.814C>T (p.Gln272Ter)
|
rs1569310288
|
|
NM_001291867.2(NHS):c.819G>A (p.Arg273=)
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NM_001291867.2(NHS):c.81G>C (p.Ala27=)
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NM_001291867.2(NHS):c.824G>A (p.Arg275His)
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NM_001291867.2(NHS):c.839G>A (p.Arg280His)
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NM_001291867.2(NHS):c.844T>G (p.Phe282Val)
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NM_001291867.2(NHS):c.851C>T (p.Thr284Met)
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|
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NM_001291867.2(NHS):c.852+1del
|
rs786205677
|
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NM_001291867.2(NHS):c.86G>T (p.Gly29Val)
|
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NM_001291867.2(NHS):c.86del (p.Gly29fs)
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NM_001291867.2(NHS):c.916-17T>C
|
|
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NM_001291867.2(NHS):c.916-2A>G
|
rs786205257
|
|
NM_001291867.2(NHS):c.916-2A>T
|
rs786205257
|
|
NM_001291867.2(NHS):c.950T>C (p.Met317Thr)
|
|
|
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)
|
|
|
NM_001291867.2(NHS):c.976A>G (p.Ile326Val)
|
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|
NM_001291867.2(NHS):c.[107C>G;111del]
|
|
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