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.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.370A>G (p.Lys124Glu)
|
rs781260821
|
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_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)
|
rs142839840
|
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.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00003
|
NM_005159.5(ACTC1):c.616+6T>C
|
rs574862389
|
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.510G>C (p.Gln170His)
|
rs1489743522
|
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.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)
|
rs746748461
|
0.00002
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)
|
rs549161381
|
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.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.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.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.466C>T (p.Arg156Cys)
|
rs1310163851
|
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.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.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.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.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.96G>C (p.Glu32Asp)
|
rs776310516
|
0.00001
|
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys)
|
rs759495229
|
0.00001
|
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu)
|
rs1405829098
|
0.00001
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)
|
rs730880402
|
0.00001
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
NC_000005.9:g.(?_172659552)_(172672303_?)dup
|
|
|
NC_000015.10:g.(?_34788628)_(34794818_?)dup
|
|
|
NC_000015.9:g.(?_34526082)_(35087009_?)del
|
|
|
NC_000015.9:g.(?_35080829)_(35087019_?)del
|
|
|
NC_000015.9:g.(?_35082593)_(35087029_?)dup
|
|
|
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.133T>C (p.Ser45Pro)
|
|
|
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro)
|
|
|
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.167A>G (p.Tyr56Cys)
|
rs1360861650
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
|
|
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.200C>T (p.Pro67Leu)
|
rs2113906300
|
|
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg)
|
rs1032793565
|
|
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
|
|
|
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.229C>T (p.Pro77Ser)
|
rs771593440
|
|
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
|
|
|
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.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
|
|
|
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.274T>G (p.Phe92Val)
|
|
|
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser)
|
rs1009994744
|
|
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.298C>A (p.Pro100Thr)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
|
|
|
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.322G>A (p.Ala108Thr)
|
|
|
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val)
|
rs1581111049
|
|
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys)
|
|
|
NM_004387.4(NKX2-5):c.335-3C>T
|
|
|
NM_004387.4(NKX2-5):c.335-7C>G
|
rs937339110
|
|
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly)
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
|
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro)
|
|
|
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val)
|
rs369025518
|
|
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
|
|
|
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala)
|
rs1320947604
|
|
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
|
|
|
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly)
|
|
|
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp)
|
rs1248623506
|
|
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln)
|
|
|
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
|
|
|
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala)
|
rs774627537
|
|
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His)
|
rs2113902000
|
|
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe)
|
rs1431464297
|
|
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro)
|
rs747932354
|
|
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His)
|
rs1230869762
|
|
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro)
|
rs1018993104
|
|
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.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.512T>A (p.Leu171Gln)
|
|
|
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.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.559C>G (p.Gln187Glu)
|
|
|
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr)
|
rs2113901591
|
|
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.568C>T (p.Arg190Cys)
|
rs104893906
|
|
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
|
|
|
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.590G>C (p.Arg197Pro)
|
rs774482632
|
|
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
|
|
|
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro)
|
rs1471444031
|
|
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.613G>A (p.Val205Met)
|
|
|
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.627GCC[3] (p.Pro213_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.635C>G (p.Pro212Arg)
|
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.649A>G (p.Arg217Gly)
|
|
|
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu)
|
|
|
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.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.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.713C>T (p.Ala238Val)
|
|
|
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.751A>G (p.Asn251Asp)
|
|
|
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser)
|
rs1327849028
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
|
|
|
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.817G>C (p.Ala273Pro)
|
|
|
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)
|
|
|
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser)
|
rs368366482
|
|
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu)
|
rs1060503097
|
|
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu)
|
rs2113900895
|
|
NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr)
|
|
|
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val)
|
|
|
NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala)
|
rs2113900851
|
|
NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup)
|
rs747608855
|
|
NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg)
|
|
|
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu)
|
|
|
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val)
|
rs1761344289
|
|
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr)
|
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr)
|
|
|
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr)
|
rs1318592912
|
|
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu)
|
rs150581386
|
|
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser)
|
rs1358735679
|
|
NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys)
|
rs1358735679
|
|
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe)
|
rs569535312
|
|
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr)
|
rs1304644050
|
|
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val)
|
rs2113900634
|
|
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)
|
|
|
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
|
|
|
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter)
|
rs1761340979
|
|
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu)
|
|
|
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr)
|
|
|
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met)
|
rs2113900561
|
|
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala)
|
rs1581107775
|
|
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln)
|
|
|
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly)
|
rs1188394387
|
|
NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.1029del (p.Ile343fs)
|
rs2140429044
|
|
NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)
|
|
|
NM_005159.5(ACTC1):c.1034del (p.Gly345fs)
|
rs2140429038
|
|
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala)
|
rs1595761987
|
|
NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)
|
|
|
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)
|
rs2140428997
|
|
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)
|
|
|
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
|
|
|
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)
|
rs1595759946
|
|
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)
|
rs121912674
|
|
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
|
|
|
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn)
|
rs1555418631
|
|
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)
|
rs2140428952
|
|
NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr)
|
rs2140428952
|
|
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)
|
rs730880408
|
|
NM_005159.5(ACTC1):c.10G>C (p.Asp4His)
|
rs730880408
|
|
NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly)
|
rs2140428937
|
|
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
|
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val)
|
rs2140428902
|
|
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
|
|
|
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr)
|
rs2140433161
|
|
NM_005159.5(ACTC1):c.129+3A>G
|
rs763452221
|
|
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)
|
rs768526036
|
|
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala)
|
rs1555418924
|
|
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser)
|
rs1555418921
|
|
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
|
|
|
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)
|
|
|
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)
|
rs944740404
|
|
NM_005159.5(ACTC1):c.166G>C (p.Val56Leu)
|
rs944740404
|
|
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)
|
rs1555418912
|
|
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg)
|
rs794727502
|
|
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys)
|
rs869025353
|
|
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
|
|
|
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
|
|
|
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala)
|
rs730880390
|
|
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
|
|
|
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser)
|
rs767734253
|
|
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)
|
|
|
NM_005159.5(ACTC1):c.290G>A (p.Arg97His)
|
|
|
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala)
|
rs1555418891
|
|
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)
|
|
|
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)
|
|
|
NM_005159.5(ACTC1):c.2T>C (p.Met1Thr)
|
rs781220417
|
|
NM_005159.5(ACTC1):c.302A>T (p.Glu101Val)
|
rs1891748027
|
|
NM_005159.5(ACTC1):c.309C>A (p.His103Gln)
|
rs769303249
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)
|
|
|
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)
|
|
|
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)
|
|
|
NM_005159.5(ACTC1):c.332del (p.Pro111fs)
|
rs1891747102
|
|
NM_005159.5(ACTC1):c.337A>C (p.Asn113His)
|
|
|
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)
|
|
|
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr)
|
rs1891746619
|
|
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
|
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)
|
rs1595761344
|
|
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile)
|
rs1595761338
|
|
NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)
|
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
|
rs1595761325
|
|
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)
|
rs1566967697
|
|
NM_005159.5(ACTC1):c.397G>C (p.Ala133Pro)
|
rs1566967697
|
|
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)
|
rs1257864393
|
|
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr)
|
rs1891745022
|
|
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)
|
|
|
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val)
|
rs2140431775
|
|
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
|
|
|
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
|
|
|
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)
|
|
|
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)
|
|
|
NM_005159.5(ACTC1):c.441del (p.Gly148fs)
|
|
|
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)
|
|
|
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)
|
|
|
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser)
|
rs1247069535
|
|
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
|
|
|
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)
|
rs1555418843
|
|
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu)
|
rs2140431025
|
|
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu)
|
rs886039144
|
|
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)
|
|
|
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala)
|
rs1060502824
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
NM_005159.5(ACTC1):c.493G>A (p.Val165Ile)
|
rs2140431000
|
|
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser)
|
rs267606628
|
|
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.500T>G (p.Ile167Ser)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met)
|
rs1306504752
|
|
NM_005159.5(ACTC1):c.507G>A (p.Glu169=)
|
rs1555418837
|
|
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
NM_005159.5(ACTC1):c.524A>C (p.His175Pro)
|
rs1566967487
|
|
NM_005159.5(ACTC1):c.527C>T (p.Ala176Val)
|
rs2140430933
|
|
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)
|
rs730880392
|
|
NM_005159.5(ACTC1):c.529A>T (p.Ile177Phe)
|
|
|
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)
|
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)
|
|
|
NM_005159.5(ACTC1):c.541G>C (p.Asp181His)
|
rs730880393
|
|
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met)
|
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
NM_005159.5(ACTC1):c.556del (p.Asp186fs)
|
|
|
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala)
|
rs1555418824
|
|
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile)
|
rs730880394
|
|
NM_005159.5(ACTC1):c.565G>C (p.Asp189His)
|
|
|
NM_005159.5(ACTC1):c.566A>C (p.Asp189Ala)
|
rs2140430890
|
|
NM_005159.5(ACTC1):c.574A>G (p.Met192Val)
|
rs1555418823
|
|
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
|
|
|
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn)
|
rs730880395
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
NM_005159.5(ACTC1):c.599_602dup (p.Phe202fs)
|
rs2140430851
|
|
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro)
|
rs2140430853
|
|
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile)
|
rs1060502822
|
|
NM_005159.5(ACTC1):c.616+3G>A
|
|
|
NM_005159.5(ACTC1):c.616+4_616+7del
|
rs1891723274
|
|
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
|
|
|
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val)
|
rs1060502823
|
|
NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys)
|
rs1437269590
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
|
|
|
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met)
|
rs760269526
|
|
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly)
|
|
|
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
|
rs193922681
|
|
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)
|
rs1595760799
|
|
NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)
|
|
|
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile)
|
rs1060502825
|
|
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val)
|
rs730880396
|
|
NM_005159.5(ACTC1):c.697G>C (p.Ala233Pro)
|
rs2140430611
|
|
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)
|
rs1595760777
|
|
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)
|
rs770397773
|
|
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg)
|
rs1566967406
|
|
NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln)
|
rs1891718487
|
|
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met)
|
rs2140430556
|
|
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
|
|
|
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)
|
rs730880398
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)
|
|
|
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
|
|
|
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)
|
rs1060502821
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005159.5(ACTC1):c.808+1G>C
|
rs730880400
|
|
NM_005159.5(ACTC1):c.808+3G>A
|
rs397517070
|
|
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile)
|
rs1891698673
|
|
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
|
|
|
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
|
|
|
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)
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rs397517072
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NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)
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NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)
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rs397517073
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NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)
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rs869025354
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NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
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NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
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NM_005159.5(ACTC1):c.883C>A (p.Leu295Met)
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rs2140429655
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NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln)
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rs1891697323
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NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)
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rs730880402
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NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
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rs1595760259
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NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
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NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)
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rs1057518530
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NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp)
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rs1891696834
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NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile)
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rs1891696768
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NM_005159.5(ACTC1):c.922T>C (p.Tyr308His)
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rs1566967093
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NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
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NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)
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rs1595760229
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NM_005159.5(ACTC1):c.94G>A (p.Val32Ile)
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rs1555419003
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NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)
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NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)
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NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)
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rs1595760207
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NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile)
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rs1891695680
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NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)
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NM_005159.5(ACTC1):c.964C>G (p.Leu322Val)
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rs1891695577
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NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)
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rs771011464
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NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
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rs730880404
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NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
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NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)
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rs1555418679
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NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)
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rs730880410
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NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA
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rs2140429486
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NM_005159.5(ACTC1):c.990+6G>A
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rs749154513
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NM_005159.5(ACTC1):c.990+6G>C
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NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
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NM_005159.5(ACTC1):c.991-2del
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NM_005159.5(ACTC1):c.991A>G (p.Ile331Val)
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rs730880405
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NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)
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rs730880406
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