NM_004387.4(NKX2-5):c.63A>G (p.Glu21=)
|
rs2277923
|
0.44081
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=)
|
rs7728764
|
0.00381
|
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)
|
rs72554029
|
0.00115
|
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=)
|
rs3729753
|
0.00096
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=)
|
rs151314714
|
0.00078
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro)
|
rs113818864
|
0.00071
|
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=)
|
rs373636712
|
0.00027
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)
|
rs374150672
|
0.00023
|
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)
|
rs368366482
|
0.00013
|
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)
|
rs150581386
|
0.00011
|
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu)
|
rs761596254
|
0.00009
|
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)
|
rs387906776
|
0.00008
|
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)
|
rs754229011
|
0.00006
|
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)
|
rs376792087
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
|
rs778545351
|
0.00005
|
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)
|
rs530270916
|
0.00004
|
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=)
|
rs974468549
|
0.00004
|
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)
|
rs984722259
|
0.00004
|
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys)
|
rs866974584
|
0.00004
|
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr)
|
rs770192204
|
0.00004
|
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys)
|
rs765528024
|
0.00004
|
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr)
|
rs1279595214
|
0.00004
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=)
|
rs370499146
|
0.00004
|
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)
|
rs369025518
|
0.00003
|
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val)
|
rs762090105
|
0.00003
|
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=)
|
rs762428190
|
0.00003
|
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00003
|
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=)
|
rs748311298
|
0.00003
|
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser)
|
rs769233111
|
0.00002
|
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=)
|
rs957139658
|
0.00002
|
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=)
|
rs1315138203
|
0.00002
|
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)
|
rs373421818
|
0.00002
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=)
|
rs1057523798
|
0.00001
|
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=)
|
rs756377692
|
0.00001
|
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val)
|
rs1012750146
|
0.00001
|
NM_004387.4(NKX2-5):c.282A>G (p.Pro94=)
|
rs1468594356
|
0.00001
|
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu)
|
rs763729448
|
0.00001
|
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=)
|
rs767243751
|
0.00001
|
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=)
|
rs759221178
|
0.00001
|
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=)
|
rs750029908
|
0.00001
|
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro)
|
rs754394393
|
0.00001
|
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)
|
rs201582515
|
0.00001
|
NM_004387.4(NKX2-5):c.450C>T (p.Val150=)
|
rs376636481
|
0.00001
|
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys)
|
rs1310163851
|
0.00001
|
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg)
|
rs1761355968
|
0.00001
|
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=)
|
rs767559311
|
0.00001
|
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr)
|
rs760305842
|
0.00001
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala)
|
rs759339072
|
0.00001
|
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=)
|
rs202071628
|
0.00001
|
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
|
rs1206339157
|
0.00001
|
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser)
|
rs936204422
|
0.00001
|
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg)
|
rs1196710127
|
0.00001
|
NM_004387.4(NKX2-5):c.957T>C (p.His319=)
|
rs1244640427
|
0.00001
|
NM_004387.4(NKX2-5):c.-2C>T
|
|
|
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro)
|
|
|
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
|
|
|
NM_004387.4(NKX2-5):c.126G>T (p.Ala42=)
|
|
|
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
|
|
|
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
|
|
|
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=)
|
rs747865362
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
|
|
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)
|
rs766199339
|
|
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=)
|
rs760954359
|
|
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala)
|
|
|
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser)
|
|
|
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
|
|
|
NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
|
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val)
|
|
|
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
|
|
|
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
|
|
|
NM_004387.4(NKX2-5):c.267C>T (p.Ala89=)
|
|
|
NM_004387.4(NKX2-5):c.270C>T (p.Pro90=)
|
|
|
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr)
|
|
|
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr)
|
|
|
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg)
|
|
|
NM_004387.4(NKX2-5):c.334+3G>A
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
|
NM_004387.4(NKX2-5):c.346C>T (p.Leu116=)
|
|
|
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro)
|
|
|
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His)
|
|
|
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val)
|
rs369025518
|
|
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)
|
|
|
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
|
|
|
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn)
|
|
|
NM_004387.4(NKX2-5):c.390G>A (p.Ala130=)
|
|
|
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly)
|
|
|
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
|
|
|
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr)
|
|
|
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
|
|
|
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu)
|
|
|
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
|
|
|
NM_004387.4(NKX2-5):c.438G>A (p.Ser146=)
|
|
|
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln)
|
|
|
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His)
|
|
|
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys)
|
|
|
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004387.4(NKX2-5):c.495C>T (p.Ala165=)
|
|
|
NM_004387.4(NKX2-5):c.501A>G (p.Glu167=)
|
|
|
NM_004387.4(NKX2-5):c.504C>T (p.Arg168=)
|
|
|
NM_004387.4(NKX2-5):c.511C>T (p.Leu171=)
|
|
|
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
|
|
|
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu)
|
|
|
NM_004387.4(NKX2-5):c.528A>G (p.Lys176=)
|
|
|
NM_004387.4(NKX2-5):c.531C>T (p.Leu177=)
|
|
|
NM_004387.4(NKX2-5):c.546C>G (p.Val182=)
|
|
|
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
|
|
|
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser)
|
|
|
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.585G>A (p.Arg195=)
|
|
|
NM_004387.4(NKX2-5):c.588G>A (p.Gln196=)
|
|
|
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)
|
rs774482632
|
|
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=)
|
rs1761354689
|
|
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro)
|
rs1471444031
|
|
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=)
|
rs980492525
|
|
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs)
|
rs1554093461
|
|
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
|
|
|
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly)
|
rs771533553
|
|
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=)
|
rs946354549
|
|
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu)
|
|
|
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.630G>A (p.Pro210=)
|
|
|
NM_004387.4(NKX2-5):c.630G>C (p.Pro210=)
|
|
|
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.642T>G (p.Pro214=)
|
|
|
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)
|
rs201442000
|
|
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu)
|
|
|
NM_004387.4(NKX2-5):c.675C>T (p.Arg225=)
|
|
|
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala)
|
rs2113901265
|
|
NM_004387.4(NKX2-5):c.687A>T (p.Pro229=)
|
|
|
NM_004387.4(NKX2-5):c.693A>C (p.Leu231=)
|
|
|
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His)
|
|
|
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
|
|
|
NM_004387.4(NKX2-5):c.702G>A (p.Ser234=)
|
|
|
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His)
|
rs1761349696
|
|
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr)
|
|
|
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
|
|
|
NM_004387.4(NKX2-5):c.741C>G (p.Pro247=)
|
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu)
|
|
|
NM_004387.4(NKX2-5):c.780C>A (p.Gly260=)
|
|
|
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser)
|
|
|
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro)
|
|
|
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
|
|
|
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn)
|
|
|
NM_004387.4(NKX2-5):c.816C>A (p.Ala272=)
|
|
|
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
|
|
|
NM_004387.4(NKX2-5):c.825C>T (p.Pro275=)
|
|
|
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
|
|
|
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val)
|
|
|
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr)
|
rs1554093718
|
|
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val)
|
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr)
|
rs1318592912
|
|
NM_004387.4(NKX2-5):c.876C>T (p.Phe292=)
|
|
|
NM_004387.4(NKX2-5):c.87C>A (p.Ala29=)
|
|
|
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=)
|
rs1554093405
|
|
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe)
|
rs569535312
|
|
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser)
|
|
|
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe)
|
|
|
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=)
|
rs529731562
|
|
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
|
|
|
NM_004387.4(NKX2-5):c.931A>G (p.Ser311Gly)
|
|
|
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
|
|
|
NM_004387.4(NKX2-5):c.945G>C (p.Val315=)
|
|
|
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met)
|
rs2113900561
|
|
NM_004387.4(NKX2-5):c.961A>G (p.Ile321Val)
|
|
|
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe)
|
|
|
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=)
|
rs2113906643
|
|