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
|
NC_000005.10:g.173235491T>C
|
rs118026695
|
0.00176
|
NM_004387.4(NKX2-5):c.335-162G>A
|
rs200039950
|
0.00121
|
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.*296G>C
|
rs540202205
|
0.00009
|
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.370A>G (p.Lys124Glu)
|
rs781260821
|
0.00004
|
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=)
|
rs974468549
|
0.00004
|
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=)
|
rs909098202
|
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.334+19C>T
|
rs755215586
|
0.00003
|
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.257T>C (p.Phe86Ser)
|
rs373807012
|
0.00002
|
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=)
|
rs957139658
|
0.00002
|
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)
|
rs1489743522
|
0.00002
|
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=)
|
rs1315138203
|
0.00002
|
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro)
|
rs768499098
|
0.00002
|
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)
|
rs751684900
|
0.00002
|
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)
|
rs373421818
|
0.00002
|
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=)
|
rs761208569
|
0.00002
|
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=)
|
rs760182745
|
0.00002
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=)
|
rs1282271902
|
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.169G>T (p.Ala57Ser)
|
rs549161381
|
0.00001
|
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val)
|
rs1012750146
|
0.00001
|
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly)
|
rs1216673146
|
0.00001
|
NM_004387.4(NKX2-5):c.236C>G (p.Pro79Arg)
|
rs777921797
|
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.295G>T (p.Asp99Tyr)
|
rs1761431105
|
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.344C>T (p.Ala115Val)
|
rs529610517
|
0.00001
|
NM_004387.4(NKX2-5):c.385A>G (p.Asn129Asp)
|
rs758000160
|
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.420G>A (p.Lys140=)
|
rs1761361713
|
0.00001
|
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=)
|
rs776529245
|
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.48C>T (p.Asp16=)
|
rs1380213330
|
0.00001
|
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)
|
rs1761356979
|
0.00001
|
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg)
|
rs1761355968
|
0.00001
|
NM_004387.4(NKX2-5):c.558C>T (p.Phe186=)
|
rs994615466
|
0.00001
|
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=)
|
rs767559311
|
0.00001
|
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=)
|
rs1190579821
|
0.00001
|
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=)
|
rs755052461
|
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.705G>C (p.Ala235=)
|
rs202071628
|
0.00001
|
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser)
|
rs770192204
|
0.00001
|
NM_004387.4(NKX2-5):c.727G>A (p.Val243Met)
|
rs781370140
|
0.00001
|
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser)
|
rs772889193
|
0.00001
|
NM_004387.4(NKX2-5):c.826G>A (p.Ala276Thr)
|
rs1425022333
|
0.00001
|
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=)
|
rs762836048
|
0.00001
|
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
|
rs1206339157
|
0.00001
|
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=)
|
rs769114793
|
0.00001
|
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=)
|
rs1403843686
|
0.00001
|
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser)
|
rs936204422
|
0.00001
|
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu)
|
rs549406766
|
0.00001
|
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp)
|
rs1425683417
|
0.00001
|
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe)
|
rs772495396
|
0.00001
|
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg)
|
rs1360215151
|
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.96G>C (p.Glu32Asp)
|
rs776310516
|
0.00001
|
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1
|
|
|
NC_000005.10:g.(?_173232273)_(173245300_?)del
|
|
|
NC_000005.10:g.(?_173232549)_(173245300_?)del
|
|
|
NC_000005.9:g.(?_171765373)_(172662086_?)del
|
|
|
NC_000005.9:g.(?_172089144)_(172774583_?)del
|
|
|
NC_000005.9:g.(?_172657631)_(172661899_?)del
|
|
|
NC_000005.9:g.(?_172659552)_(172672303_?)dup
|
|
|
NC_000005.9:g.(?_172659572)_(172662086_?)dup
|
|
|
NC_000005.9:g.(?_172659748)_(172666091_?)del
|
|
|
NC_000005.9:g.(?_172661733)_(172662086_?)dup
|
|
|
NC_000005.9:g.(?_172662074)_(172662527_?)del
|
|
|
NM_004387.3(NKX2-5):c.-229_*465del
|
|
|
NM_004387.3(NKX2-5):c.-229_334del
|
rs1581111034
|
|
NM_004387.4(NKX2-5):c.107G>A (p.Arg36His)
|
|
|
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly)
|
|
|
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly)
|
rs1234717083
|
|
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr)
|
|
|
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val)
|
rs1761439619
|
|
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=)
|
|
|
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
|
|
|
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro)
|
|
|
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs)
|
rs1561621507
|
|
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
|
|
|
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn)
|
|
|
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=)
|
rs1581111412
|
|
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=)
|
rs747865362
|
|
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs)
|
rs1761438700
|
|
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys)
|
rs1360861650
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
|
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
|
|
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=)
|
|
|
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys)
|
|
|
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)
|
rs766199339
|
|
NM_004387.4(NKX2-5):c.182C>T (p.Ala61Val)
|
|
|
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=)
|
rs760954359
|
|
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=)
|
rs1242630173
|
|
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=)
|
|
|
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu)
|
rs2113906300
|
|
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg)
|
rs1032793565
|
|
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
|
|
|
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
|
|
|
NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
|
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs)
|
rs606231358
|
|
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu)
|
rs1363174603
|
|
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu)
|
|
|
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs)
|
rs606231359
|
|
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser)
|
rs771593440
|
|
NM_004387.4(NKX2-5):c.230del (p.Pro77fs)
|
rs2113906167
|
|
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=)
|
rs2113906146
|
|
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
|
|
|
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg)
|
|
|
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu)
|
rs904474688
|
|
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)
|
|
|
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs)
|
rs1761434175
|
|
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=)
|
rs1442654880
|
|
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
|
|
|
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs)
|
rs2113906022
|
|
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
|
|
|
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=)
|
|
|
NM_004387.4(NKX2-5):c.261del (p.Ala88fs)
|
rs2113906009
|
|
NM_004387.4(NKX2-5):c.262del (p.Ala88fs)
|
rs606231360
|
|
NM_004387.4(NKX2-5):c.265G>C (p.Ala89Pro)
|
rs1761432750
|
|
NM_004387.4(NKX2-5):c.266C>A (p.Ala89Asp)
|
rs2113905976
|
|
NM_004387.4(NKX2-5):c.270del (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val)
|
|
|
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
|
|
|
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser)
|
rs1009994744
|
|
NM_004387.4(NKX2-5):c.281del (p.Pro94fs)
|
rs2113905914
|
|
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly)
|
|
|
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val)
|
rs760088847
|
|
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
|
|
|
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
|
|
|
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
|
|
|
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly)
|
|
|
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val)
|
|
|
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter)
|
rs1761430125
|
|
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
|
|
|
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
|
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|
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr)
|
|
|
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val)
|
rs1581111049
|
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NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys)
|
|
|
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
|
|
|
NM_004387.4(NKX2-5):c.334+9G>A
|
rs534308328
|
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NM_004387.4(NKX2-5):c.334+9G>T
|
rs534308328
|
|
NM_004387.4(NKX2-5):c.335-16C>T
|
|
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NM_004387.4(NKX2-5):c.335-18C>T
|
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NM_004387.4(NKX2-5):c.335-3C>T
|
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|
NM_004387.4(NKX2-5):c.335-5C>T
|
rs2113902342
|
|
NM_004387.4(NKX2-5):c.335-5dup
|
rs1316920712
|
|
NM_004387.4(NKX2-5):c.335-6C>T
|
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NM_004387.4(NKX2-5):c.335-7C>G
|
rs937339110
|
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NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly)
|
|
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NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs)
|
rs2113902320
|
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NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
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NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro)
|
|
|
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val)
|
rs369025518
|
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NM_004387.4(NKX2-5):c.357G>C (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
|
|
|
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
|
|
|
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs)
|
rs1561619801
|
|
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala)
|
rs1320947604
|
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NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs)
|
rs2113902216
|
|
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)
|
rs387906774
|
|
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
|
|
|
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
|
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NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)
|
rs750029908
|
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NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly)
|
|
|
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp)
|
rs1248623506
|
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NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln)
|
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|
NM_004387.4(NKX2-5):c.406C>A (p.Arg136=)
|
|
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NM_004387.4(NKX2-5):c.409C>A (p.Arg137=)
|
rs1260214548
|
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NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln)
|
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NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
|
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NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
|
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NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala)
|
rs774627537
|
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NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
|
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|
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs)
|
rs2113902012
|
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NM_004387.4(NKX2-5):c.425G>A (p.Arg142His)
|
rs2113902000
|
|
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
|
|
|
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe)
|
rs1431464297
|
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NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro)
|
rs747932354
|
|
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=)
|
rs1182838417
|
|
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu)
|
rs2113901956
|
|
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs)
|
rs2113901953
|
|
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter)
|
rs397516909
|
|
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His)
|
rs1230869762
|
|
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile)
|
rs387906773
|
|
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
|
|
|
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro)
|
rs2113901873
|
|
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly)
|
rs587782928
|
|
NM_004387.4(NKX2-5):c.462del (p.Glu154fs)
|
rs2113901862
|
|
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro)
|
rs1018993104
|
|
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
|
|
|
NM_004387.4(NKX2-5):c.467G>A (p.Arg156His)
|
rs2113901836
|
|
NM_004387.4(NKX2-5):c.46G>A (p.Asp16Asn)
|
rs750904275
|
|
NM_004387.4(NKX2-5):c.473A>G (p.Lys158Arg)
|
rs1761358755
|
|
NM_004387.4(NKX2-5):c.475C>G (p.Gln159Glu)
|
|
|
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His)
|
|
|
NM_004387.4(NKX2-5):c.477G>T (p.Gln159His)
|
|
|
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly)
|
rs2113901789
|
|
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn)
|
|
|
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter)
|
rs1456289029
|
|
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
|
|
|
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=)
|
rs2113901761
|
|
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp)
|
rs984722259
|
|
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly)
|
|
|
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys)
|
rs1761357696
|
|
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly)
|
|
|
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)
|
rs104893901
|
|
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln)
|
|
|
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro)
|
rs797045791
|
|
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
|
|
|
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr)
|
rs878854704
|
|
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
|
|
|
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro)
|
rs1761356915
|
|
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)
|
rs104893900
|
|
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
|
|
|
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His)
|
rs72554028
|
|
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg)
|
rs2113901612
|
|
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle)
|
|
|
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
|
|
|
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu)
|
|
|
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)
|
|
|
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
|
|
|
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu)
|
|
|
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr)
|
rs2113901591
|
|
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp)
|
rs759647212
|
|
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln)
|
rs786205824
|
|
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro)
|
rs786205824
|
|
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)
|
rs104893906
|
|
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
|
|
|
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
|
|
|
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=)
|
|
|
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1])
|
|
|
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro)
|
|
|
NM_004387.4(NKX2-5):c.585del (p.Gln196fs)
|
rs2113901553
|
|
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.592C>T (p.Gln198Ter)
|
rs104893903
|
|
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
|
|
|
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs)
|
rs2113901504
|
|
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.608_616dup (p.Glu203_Val205dup)
|
rs1302021340
|
|
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=)
|
rs554604572
|
|
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=)
|
rs946354549
|
|
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met)
|
|
|
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
|
|
|
NM_004387.4(NKX2-5):c.618del (p.Leu207fs)
|
rs587782929
|
|
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser)
|
|
|
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del)
|
rs1761352648
|
|
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
|
|
|
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
|
|
|
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.627GCC[7] (p.Pro213_Pro214dup)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.629C>G (p.Pro210Arg)
|
|
|
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
|
|
|
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala)
|
rs1250491634
|
|
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu)
|
|
|
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)
|
rs104893905
|
|
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
|
|
|
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly)
|
|
|
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu)
|
|
|
NM_004387.4(NKX2-5):c.651G>A (p.Arg217=)
|
|
|
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=)
|
rs990341478
|
|
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met)
|
|
|
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)
|
rs201442000
|
|
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)
|
rs1554093444
|
|
NM_004387.4(NKX2-5):c.668del (p.Leu223fs)
|
rs1581108237
|
|
NM_004387.4(NKX2-5):c.671T>C (p.Val224Ala)
|
rs2113901297
|
|
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn)
|
rs760528062
|
|
NM_004387.4(NKX2-5):c.685C>A (p.Pro229Thr)
|
|
|
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala)
|
rs2113901265
|
|
NM_004387.4(NKX2-5):c.690C>T (p.Cys230=)
|
|
|
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
|
|
|
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
|
|
|
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
|
|
|
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter)
|
rs773922431
|
|
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp)
|
|
|
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
|
|
|
NM_004387.4(NKX2-5):c.704C>T (p.Ala235Val)
|
|
|
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His)
|
rs1761349696
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val)
|
|
|
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)
|
rs587782930
|
|
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=)
|
rs1204175293
|
|
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.730G>A (p.Gly244Ser)
|
|
|
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val)
|
rs1761348880
|
|
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe)
|
|
|
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)
|
|
|
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
|
|
|
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys)
|
rs1131691343
|
|
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter)
|
rs758539727
|
|
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
|
|
|
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
|
|
|
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp)
|
|
|
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser)
|
rs1327849028
|
|
NM_004387.4(NKX2-5):c.752del (p.Asn251fs)
|
rs879253754
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter)
|
rs104893907
|
|
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter)
|
rs104893907
|
|
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
|
|
|
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs)
|
rs2113901025
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=)
|
rs2113906717
|
|
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser)
|
rs780688010
|
|
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
|
|
|
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
|
rs1761346424
|
|
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=)
|
|
|
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=)
|
|
|
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
|
|
|
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=)
|
rs2113900942
|
|
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)
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NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser)
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rs368366482
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NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu)
|
rs1060503097
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NM_004387.4(NKX2-5):c.828C>G (p.Ala276=)
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rs762836048
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NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg)
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rs772729751
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NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp)
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rs772729751
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NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu)
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rs2113900895
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NM_004387.4(NKX2-5):c.837C>T (p.Ser279=)
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rs1761345000
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NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr)
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NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val)
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NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala)
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rs2113900851
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NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup)
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rs747608855
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NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg)
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NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu)
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NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val)
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rs1761344289
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NM_004387.4(NKX2-5):c.858C>G (p.Ala286=)
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NM_004387.4(NKX2-5):c.858C>T (p.Ala286=)
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NM_004387.4(NKX2-5):c.861C>A (p.Ala287=)
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NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr)
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NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
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rs756974215
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NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr)
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NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr)
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rs1318592912
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NM_004387.4(NKX2-5):c.882C>T (p.Asn294=)
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rs1554093405
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NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu)
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rs150581386
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NM_004387.4(NKX2-5):c.885C>T (p.Phe295=)
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rs150581386
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NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser)
|
rs1358735679
|
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NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys)
|
rs1358735679
|
|
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=)
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NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe)
|
rs569535312
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NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr)
|
rs1304644050
|
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NM_004387.4(NKX2-5):c.891C>T (p.Val297=)
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NM_004387.4(NKX2-5):c.894G>A (p.Gly298=)
|
rs2113900696
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NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly)
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rs137852683
|
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NM_004387.4(NKX2-5):c.897C>T (p.Asp299=)
|
rs1060504828
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NM_004387.4(NKX2-5):c.906G>C (p.Ala302=)
|
rs529731562
|
|
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=)
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|
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NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
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NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val)
|
rs2113900634
|
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NM_004387.4(NKX2-5):c.923T>C (p.Ile308Thr)
|
|
|
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu)
|
|
|
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg)
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NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
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|
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NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter)
|
rs1761340979
|
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NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu)
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|
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NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr)
|
|
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NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met)
|
rs2113900561
|
|
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala)
|
rs1581107775
|
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NM_004387.4(NKX2-5):c.957T>A (p.His319Gln)
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|
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NM_004387.4(NKX2-5):c.966A>G (p.Arg322=)
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NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly)
|
rs1188394387
|
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NM_004387.4(NKX2-5):c.96G>A (p.Glu32=)
|
rs776310516
|
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NM_004387.4(NKX2-5):c.99C>G (p.Leu33=)
|
rs2113906643
|
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