NM_000126.4(ETFA):c.*216A>T
|
rs1803550
|
0.97654
|
NM_000126.4(ETFA):c.817-3173C>G
|
rs2456057
|
0.64613
|
NM_000126.4(ETFA):c.39+12C>G
|
rs62027051
|
0.14273
|
NM_000126.4(ETFA):c.817-32A>G
|
rs62030234
|
0.07095
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
NM_000126.4(ETFA):c.*268A>G
|
rs80292319
|
0.03836
|
NM_000126.4(ETFA):c.733+38T>C
|
rs78052129
|
0.03317
|
NM_000126.4(ETFA):c.734-20C>A
|
rs2460160
|
0.00787
|
NM_000126.4(ETFA):c.-71T>C
|
rs116149551
|
0.00516
|
NM_000126.4(ETFA):c.351+17T>C
|
rs138629105
|
0.00467
|
NM_000126.4(ETFA):c.562+11A>T
|
rs143834701
|
0.00311
|
NM_000126.4(ETFA):c.*99G>A
|
rs140121559
|
0.00250
|
NM_000126.4(ETFA):c.186+16G>T
|
rs146932936
|
0.00249
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_000126.4(ETFA):c.*46C>T
|
rs183981964
|
0.00123
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)
|
rs557160401
|
0.00027
|
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)
|
rs372591001
|
0.00012
|
NM_000126.4(ETFA):c.-9G>T
|
rs754953251
|
0.00011
|
NM_000126.4(ETFA):c.882+5T>C
|
rs377259058
|
0.00010
|
NM_000126.4(ETFA):c.-59C>T
|
rs80155214
|
0.00009
|
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)
|
rs761552468
|
0.00009
|
NM_000126.4(ETFA):c.-56C>A
|
rs548701046
|
0.00008
|
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)
|
rs369713466
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000126.4(ETFA):c.269-15G>A
|
rs371793833
|
0.00006
|
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)
|
rs199673198
|
0.00006
|
NM_000126.4(ETFA):c.817-12C>T
|
rs752918296
|
0.00006
|
NM_000126.4(ETFA):c.-7G>A
|
rs779643894
|
0.00005
|
NM_000126.4(ETFA):c.451+14G>A
|
rs557684539
|
0.00005
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
NM_000126.4(ETFA):c.345C>T (p.Phe115=)
|
rs760557143
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)
|
rs374127169
|
0.00004
|
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)
|
rs986861899
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)
|
rs201888260
|
0.00003
|
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)
|
rs758004001
|
0.00003
|
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)
|
rs119458971
|
0.00003
|
NM_000126.4(ETFA):c.351+8G>A
|
rs374723922
|
0.00003
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
NM_000126.4(ETFA):c.733+16T>G
|
rs755381395
|
0.00003
|
NM_000126.4(ETFA):c.771T>G (p.Val257=)
|
rs138255469
|
0.00003
|
NM_000126.4(ETFA):c.816+8T>A
|
rs759412407
|
0.00003
|
NM_000126.4(ETFA):c.883-3C>T
|
rs772701864
|
0.00003
|
NM_000126.4(ETFA):c.981T>G (p.Thr327=)
|
rs752246889
|
0.00003
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
0.00002
|
NM_000126.4(ETFA):c.352-8G>T
|
rs767560884
|
0.00002
|
NM_000126.4(ETFA):c.39+8C>T
|
rs771448257
|
0.00002
|
NM_000126.4(ETFA):c.489G>C (p.Val163=)
|
rs1294335935
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_000126.4(ETFA):c.734-11T>C
|
rs771704448
|
0.00002
|
NM_000126.4(ETFA):c.882+8T>C
|
rs776847997
|
0.00002
|
NM_000126.4(ETFA):c.882+9A>G
|
rs373161597
|
0.00002
|
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)
|
rs373896010
|
0.00002
|
NM_000126.4(ETFA):c.964-1G>C
|
rs757885420
|
0.00002
|
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
|
rs1225887341
|
0.00002
|
NM_000126.4(ETFA):c.-40G>A
|
rs1057521597
|
0.00001
|
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)
|
rs201424632
|
0.00001
|
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)
|
rs1166705959
|
0.00001
|
NM_000126.4(ETFA):c.187-4A>T
|
rs745823838
|
0.00001
|
NM_000126.4(ETFA):c.21G>C (p.Pro7=)
|
rs903002200
|
0.00001
|
NM_000126.4(ETFA):c.264T>A (p.Leu88=)
|
rs1405829462
|
0.00001
|
NM_000126.4(ETFA):c.268+3G>A
|
rs1160396237
|
0.00001
|
NM_000126.4(ETFA):c.269-5C>T
|
rs2039776155
|
0.00001
|
NM_000126.4(ETFA):c.273A>G (p.Glu91=)
|
rs1043494451
|
0.00001
|
NM_000126.4(ETFA):c.283T>C (p.Leu95=)
|
rs759065701
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.30C>T (p.Leu10=)
|
rs1042921735
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.342C>T (p.Ala114=)
|
rs1306072739
|
0.00001
|
NM_000126.4(ETFA):c.351+10T>C
|
rs768357479
|
0.00001
|
NM_000126.4(ETFA):c.354C>T (p.Asn118=)
|
rs761728625
|
0.00001
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
NM_000126.4(ETFA):c.393G>A (p.Pro131=)
|
rs769299291
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000126.4(ETFA):c.452-11del
|
rs764215608
|
0.00001
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000126.4(ETFA):c.506G>A (p.Arg169His)
|
rs375660532
|
0.00001
|
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)
|
rs780998008
|
0.00001
|
NM_000126.4(ETFA):c.564A>G (p.Ala188=)
|
rs752534473
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_000126.4(ETFA):c.654G>A (p.Val218=)
|
rs779655385
|
0.00001
|
NM_000126.4(ETFA):c.678G>A (p.Lys226=)
|
rs774023966
|
0.00001
|
NM_000126.4(ETFA):c.746G>A (p.Arg249His)
|
rs886051488
|
0.00001
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)
|
rs772068605
|
0.00001
|
NM_000126.4(ETFA):c.831T>C (p.Ala277=)
|
rs371149279
|
0.00001
|
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)
|
rs778807824
|
0.00001
|
NM_000126.4(ETFA):c.883-10T>C
|
rs1289782242
|
0.00001
|
NM_000126.4(ETFA):c.883-14T>A
|
rs2038999587
|
0.00001
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
NM_000126.4(ETFA):c.951A>G (p.Ala317=)
|
rs750192285
|
0.00001
|
NM_000126.4(ETFA):c.964-4G>A
|
rs777742977
|
0.00001
|
NC_000015.10:g.(?_76311340)_(76311398_?)del
|
|
|
NC_000015.9:g.(?_76508890)_(76603739_?)del
|
|
|
NC_000015.9:g.(?_76508900)_(76518290_?)del
|
|
|
NC_000015.9:g.(?_76508900)_(76603729_?)dup
|
|
|
NC_000015.9:g.(?_76518170)_(76518290_?)del
|
|
|
NC_000015.9:g.(?_76523654)_(76523759_?)del
|
|
|
NC_000015.9:g.(?_76566743)_(76588088_?)del
|
|
|
NC_000015.9:g.(?_76580177)_(76585051_?)del
|
|
|
NC_000015.9:g.(?_76603671)_(76603729_?)dup
|
|
|
NM_000126.4(ETFA):c.*27_*30del
|
rs2142101078
|
|
NM_000126.4(ETFA):c.*55C>G
|
rs886051487
|
|
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
|
|
|
NM_000126.4(ETFA):c.-42C>T
|
rs546128998
|
|
NM_000126.4(ETFA):c.-71T>G
|
rs116149551
|
|
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
|
|
|
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
|
|
|
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
|
|
|
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
|
|
|
NM_000126.4(ETFA):c.141T>G (p.Leu47=)
|
rs2141543772
|
|
NM_000126.4(ETFA):c.153G>A (p.Val51=)
|
rs2039810189
|
|
NM_000126.4(ETFA):c.156C>T (p.Ser52=)
|
rs2141543739
|
|
NM_000126.4(ETFA):c.15G>A (p.Ala5=)
|
rs1253564653
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
NM_000126.4(ETFA):c.165A>G (p.Val55=)
|
rs2039810025
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
NM_000126.4(ETFA):c.177del (p.Lys59fs)
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
NM_000126.4(ETFA):c.183C>T (p.Asp61=)
|
rs2141543697
|
|
NM_000126.4(ETFA):c.186+1G>A
|
rs2141543695
|
|
NM_000126.4(ETFA):c.186+7A>C
|
|
|
NM_000126.4(ETFA):c.186+8A>T
|
|
|
NM_000126.4(ETFA):c.186+9T>A
|
rs1596224309
|
|
NM_000126.4(ETFA):c.186+9T>C
|
rs1596224309
|
|
NM_000126.4(ETFA):c.187-13C>A
|
|
|
NM_000126.4(ETFA):c.187-14T>C
|
|
|
NM_000126.4(ETFA):c.187-17T>G
|
|
|
NM_000126.4(ETFA):c.187-18C>T
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
NM_000126.4(ETFA):c.189G>A (p.Val63=)
|
rs1179483198
|
|
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)
|
|
|
NM_000126.4(ETFA):c.201C>G (p.Leu67=)
|
rs1250916782
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.210A>G (p.Val70=)
|
rs1274661227
|
|
NM_000126.4(ETFA):c.210A>T (p.Val70=)
|
|
|
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
|
|
|
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)
|
rs2039778846
|
|
NM_000126.4(ETFA):c.21G>A (p.Pro7=)
|
rs903002200
|
|
NM_000126.4(ETFA):c.222A>G (p.Ala74=)
|
rs2141540424
|
|
NM_000126.4(ETFA):c.226del (p.Val76fs)
|
|
|
NM_000126.4(ETFA):c.228T>C (p.Val76=)
|
rs1277270558
|
|
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)
|
|
|
NM_000126.4(ETFA):c.240G>A (p.Gln80=)
|
rs2141540395
|
|
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
NM_000126.4(ETFA):c.24G>A (p.Gly8=)
|
rs2141564548
|
|
NM_000126.4(ETFA):c.24G>C (p.Gly8=)
|
rs2141564548
|
|
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
NM_000126.4(ETFA):c.264T>G (p.Leu88=)
|
rs1405829462
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
NM_000126.4(ETFA):c.266del (p.Pro89fs)
|
|
|
NM_000126.4(ETFA):c.268+11C>G
|
|
|
NM_000126.4(ETFA):c.268+12C>T
|
|
|
NM_000126.4(ETFA):c.268+14G>A
|
|
|
NM_000126.4(ETFA):c.268+15T>C
|
|
|
NM_000126.4(ETFA):c.268+18A>G
|
rs757775846
|
|
NM_000126.4(ETFA):c.268+1G>A
|
|
|
NM_000126.4(ETFA):c.268+1G>C
|
|
|
NM_000126.4(ETFA):c.269-15G>T
|
|
|
NM_000126.4(ETFA):c.269-19A>G
|
|
|
NM_000126.4(ETFA):c.269-2A>G
|
|
|
NM_000126.4(ETFA):c.269-5C>A
|
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.285del (p.Ile96fs)
|
rs2039775781
|
|
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
|
|
|
NM_000126.4(ETFA):c.294A>C (p.Ala98=)
|
rs1458002715
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
NM_000126.4(ETFA):c.297T>C (p.Thr99=)
|
rs2141540022
|
|
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
|
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
|
|
|
NM_000126.4(ETFA):c.30C>G (p.Leu10=)
|
rs1042921735
|
|
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
|
|
|
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
|
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
|
|
|
NM_000126.4(ETFA):c.324C>A (p.Ile108=)
|
rs753701756
|
|
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
|
|
|
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
|
|
|
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
|
|
|
NM_000126.4(ETFA):c.33G>C (p.Arg11=)
|
|
|
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
|
|
|
NM_000126.4(ETFA):c.348A>G (p.Gly116=)
|
rs2141539896
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.351+18G>A
|
|
|
NM_000126.4(ETFA):c.351+1G>A
|
|
|
NM_000126.4(ETFA):c.351+20G>A
|
|
|
NM_000126.4(ETFA):c.351+2T>C
|
|
|
NM_000126.4(ETFA):c.351+8G>C
|
rs374723922
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
NM_000126.4(ETFA):c.352-16C>G
|
|
|
NM_000126.4(ETFA):c.352-19C>T
|
|
|
NM_000126.4(ETFA):c.352-1G>A
|
|
|
NM_000126.4(ETFA):c.352-2A>G
|
|
|
NM_000126.4(ETFA):c.352-7C>T
|
|
|
NM_000126.4(ETFA):c.358T>C (p.Leu120=)
|
rs2141533653
|
|
NM_000126.4(ETFA):c.363C>T (p.Pro121=)
|
|
|
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)
|
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
NM_000126.4(ETFA):c.367G>A (p.Val123Ile)
|
rs886051489
|
|
NM_000126.4(ETFA):c.369A>T (p.Val123=)
|
|
|
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
|
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
|
|
|
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
|
|
|
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)
|
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
|
|
|
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
|
|
|
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
|
|
NM_000126.4(ETFA):c.39+11A>C
|
|
|
NM_000126.4(ETFA):c.39+14G>T
|
|
|
NM_000126.4(ETFA):c.39+17A>G
|
|
|
NM_000126.4(ETFA):c.39+18del
|
|
|
NM_000126.4(ETFA):c.39+19G>A
|
|
|
NM_000126.4(ETFA):c.39+1G>A
|
|
|
NM_000126.4(ETFA):c.39+1G>T
|
|
|
NM_000126.4(ETFA):c.39+7C>T
|
|
|
NM_000126.4(ETFA):c.39+8C>G
|
|
|
NM_000126.4(ETFA):c.39+9G>A
|
rs2039995773
|
|
NM_000126.4(ETFA):c.39+9G>C
|
|
|
NM_000126.4(ETFA):c.390C>T (p.Ala130=)
|
|
|
NM_000126.4(ETFA):c.40-10C>T
|
rs546196896
|
|
NM_000126.4(ETFA):c.40-16T>G
|
rs1402206099
|
|
NM_000126.4(ETFA):c.40-17C>A
|
|
|
NM_000126.4(ETFA):c.40-17_40-8del
|
|
|
NM_000126.4(ETFA):c.40-19T>C
|
|
|
NM_000126.4(ETFA):c.40-19del
|
|
|
NM_000126.4(ETFA):c.40-19dup
|
rs755841159
|
|
NM_000126.4(ETFA):c.40-20_40-19dup
|
|
|
NM_000126.4(ETFA):c.40-21_40-18dup
|
|
|
NM_000126.4(ETFA):c.40-21_40-19dup
|
|
|
NM_000126.4(ETFA):c.40-8C>T
|
rs1380119459
|
|
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
|
|
|
NM_000126.4(ETFA):c.423T>C (p.Pro141=)
|
rs2141533520
|
|
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
|
|
|
NM_000126.4(ETFA):c.427dup (p.Thr143fs)
|
rs2039717357
|
|
NM_000126.4(ETFA):c.429A>C (p.Thr143=)
|
rs2141533504
|
|
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
|
|
|
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
|
NM_000126.4(ETFA):c.435G>A (p.Val145=)
|
rs2141533487
|
|
NM_000126.4(ETFA):c.438A>G (p.Arg146=)
|
|
|
NM_000126.4(ETFA):c.441T>A (p.Thr147=)
|
rs2141533484
|
|
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)
|
rs1047426224
|
|
NM_000126.4(ETFA):c.451+11A>C
|
|
|
NM_000126.4(ETFA):c.451+12A>G
|
|
|
NM_000126.4(ETFA):c.451+14_451+17del
|
rs2039716961
|
|
NM_000126.4(ETFA):c.451+15A>G
|
|
|
NM_000126.4(ETFA):c.451+17G>T
|
|
|
NM_000126.4(ETFA):c.451+19T>C
|
rs1301022193
|
|
NM_000126.4(ETFA):c.451+1G>A
|
|
|
NM_000126.4(ETFA):c.452-13T>A
|
|
|
NM_000126.4(ETFA):c.452-17T>C
|
|
|
NM_000126.4(ETFA):c.452-2A>G
|
rs2141531787
|
|
NM_000126.4(ETFA):c.452-7G>A
|
|
|
NM_000126.4(ETFA):c.452-7G>T
|
|
|
NM_000126.4(ETFA):c.452-9A>G
|
|
|
NM_000126.4(ETFA):c.456T>C (p.Asn152=)
|
rs2141531775
|
|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
|
|
|
NM_000126.4(ETFA):c.462A>C (p.Leu154=)
|
rs2039705956
|
|
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
|
|
|
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
|
NM_000126.4(ETFA):c.468A>C (p.Thr156=)
|
rs775043427
|
|
NM_000126.4(ETFA):c.471G>A (p.Val157=)
|
|
|
NM_000126.4(ETFA):c.478del (p.Asp160fs)
|
rs2039705645
|
|
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
|
|
NM_000126.4(ETFA):c.495G>A (p.Val165=)
|
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
|
|
|
NM_000126.4(ETFA):c.516del (p.Phe173fs)
|
|
|
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
|
|
|
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)
|
rs1396125343
|
|
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
|
|
|
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
|
|
|
NM_000126.4(ETFA):c.540C>G (p.Gly180=)
|
rs146133196
|
|
NM_000126.4(ETFA):c.540C>T (p.Gly180=)
|
rs146133196
|
|
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
|
|
|
NM_000126.4(ETFA):c.54A>G (p.Arg18=)
|
rs2141543902
|
|
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
|
|
|
NM_000126.4(ETFA):c.558A>G (p.Glu186=)
|
rs2141531548
|
|
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
NM_000126.4(ETFA):c.560del (p.Lys187fs)
|
|
|
NM_000126.4(ETFA):c.562+10C>G
|
|
|
NM_000126.4(ETFA):c.562+11A>G
|
|
|
NM_000126.4(ETFA):c.562+13T>G
|
|
|
NM_000126.4(ETFA):c.562+15G>C
|
|
|
NM_000126.4(ETFA):c.562+16G>T
|
rs2141531505
|
|
NM_000126.4(ETFA):c.562+18G>T
|
|
|
NM_000126.4(ETFA):c.562+8T>C
|
|
|
NM_000126.4(ETFA):c.562+8T>G
|
|
|
NM_000126.4(ETFA):c.563-11A>T
|
|
|
NM_000126.4(ETFA):c.563-4G>A
|
|
|
NM_000126.4(ETFA):c.563-5T>C
|
rs2141530823
|
|
NM_000126.4(ETFA):c.563-6A>G
|
rs2141530825
|
|
NM_000126.4(ETFA):c.563-8G>A
|
rs777484688
|
|
NM_000126.4(ETFA):c.563-9T>C
|
|
|
NM_000126.4(ETFA):c.579A>G (p.Pro193=)
|
rs936157234
|
|
NM_000126.4(ETFA):c.591A>C (p.Ser197=)
|
rs1327483238
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
|
|
|
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
|
|
|
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
|
|
|
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
|
|
|
NM_000126.4(ETFA):c.624del (p.Arg209fs)
|
rs1596218695
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
|
|
|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)
|
|
|
NM_000126.4(ETFA):c.657A>G (p.Val219=)
|
|
|
NM_000126.4(ETFA):c.658_664+3del
|
|
|
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
|
|
|
NM_000126.4(ETFA):c.664+16A>C
|
|
|
NM_000126.4(ETFA):c.664+1G>A
|
rs2039698086
|
|
NM_000126.4(ETFA):c.664+20T>C
|
|
|
NM_000126.4(ETFA):c.664+2dup
|
|
|
NM_000126.4(ETFA):c.664+8A>T
|
|
|
NM_000126.4(ETFA):c.665-12T>A
|
|
|
NM_000126.4(ETFA):c.665-13C>G
|
|
|
NM_000126.4(ETFA):c.665-14T>C
|
|
|
NM_000126.4(ETFA):c.665-15A>G
|
|
|
NM_000126.4(ETFA):c.665-16dup
|
|
|
NM_000126.4(ETFA):c.665-17T>C
|
|
|
NM_000126.4(ETFA):c.665-17del
|
rs144403864
|
|
NM_000126.4(ETFA):c.665-17dup
|
rs144403864
|
|
NM_000126.4(ETFA):c.665-18T>C
|
|
|
NM_000126.4(ETFA):c.665-1G>A
|
|
|
NM_000126.4(ETFA):c.665-4T>C
|
|
|
NM_000126.4(ETFA):c.667C>A (p.Arg223=)
|
rs769976586
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)
|
rs1390694827
|
|
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
|
|
|
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
|
|
|
NM_000126.4(ETFA):c.689dup (p.Asn230fs)
|
|
|
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)
|
rs754050501
|
|
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
|
|
|
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
|
|
|
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
|
|
|
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
|
|
|
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
|
rs775620228
|
|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
|
|
|
NM_000126.4(ETFA):c.723A>G (p.Leu241=)
|
rs2141528126
|
|
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
|
|
|
NM_000126.4(ETFA):c.733+10T>C
|
rs1298665818
|
|
NM_000126.4(ETFA):c.733+16T>A
|
|
|
NM_000126.4(ETFA):c.733+18A>C
|
|
|
NM_000126.4(ETFA):c.733+8T>A
|
|
|
NM_000126.4(ETFA):c.733+8T>C
|
|
|
NM_000126.4(ETFA):c.733+9A>G
|
|
|
NM_000126.4(ETFA):c.734-10T>C
|
rs2141516395
|
|
NM_000126.4(ETFA):c.734-17A>G
|
|
|
NM_000126.4(ETFA):c.734-1_744del
|
|
|
NM_000126.4(ETFA):c.734-2A>G
|
|
|
NM_000126.4(ETFA):c.734-8C>T
|
|
|
NM_000126.4(ETFA):c.734-9del
|
|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
|
|
|
NM_000126.4(ETFA):c.765C>A (p.Gly255=)
|
rs2141516311
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
|
|
|
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
|
|
|
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)
|
rs757409121
|
|
NM_000126.4(ETFA):c.798G>A (p.Thr266=)
|
rs764478797
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)
|
rs1475984278
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.810A>G (p.Val270=)
|
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
NM_000126.4(ETFA):c.813A>C (p.Ala271=)
|
rs2141516230
|
|
NM_000126.4(ETFA):c.816+13A>G
|
|
|
NM_000126.4(ETFA):c.816+9T>A
|
rs2141516215
|
|
NM_000126.4(ETFA):c.817-12_817-11del
|
|
|
NM_000126.4(ETFA):c.817-16A>G
|
rs1176510084
|
|
NM_000126.4(ETFA):c.817-2A>G
|
|
|
NM_000126.4(ETFA):c.817-5T>A
|
|
|
NM_000126.4(ETFA):c.817-7A>G
|
|
|
NM_000126.4(ETFA):c.817-8T>G
|
|
|
NM_000126.4(ETFA):c.817-8del
|
|
|
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
|
|
|
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
|
|
|
NM_000126.4(ETFA):c.822T>A (p.Leu274=)
|
rs2141463797
|
|
NM_000126.4(ETFA):c.822T>C (p.Leu274=)
|
rs2141463797
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_000126.4(ETFA):c.837A>C (p.Gly279=)
|
rs772717284
|
|
NM_000126.4(ETFA):c.837A>G (p.Gly279=)
|
rs772717284
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
NM_000126.4(ETFA):c.84T>C (p.His28=)
|
|
|
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
|
|
|
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)
|
rs1184566559
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
NM_000126.4(ETFA):c.882+14A>T
|
|
|
NM_000126.4(ETFA):c.882+15G>A
|
|
|
NM_000126.4(ETFA):c.882+3A>G
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
|
NM_000126.4(ETFA):c.882+7G>A
|
rs753882653
|
|
NM_000126.4(ETFA):c.882+7G>C
|
rs753882653
|
|
NM_000126.4(ETFA):c.882+7G>T
|
rs753882653
|
|
NM_000126.4(ETFA):c.883-17_883-16del
|
|
|
NM_000126.4(ETFA):c.883-18T>C
|
|
|
NM_000126.4(ETFA):c.883-18T>G
|
|
|
NM_000126.4(ETFA):c.883-4A>G
|
rs2142108087
|
|
NM_000126.4(ETFA):c.883-5C>T
|
|
|
NM_000126.4(ETFA):c.883-6T>C
|
rs2142108091
|
|
NM_000126.4(ETFA):c.883-9A>G
|
rs773894937
|
|
NM_000126.4(ETFA):c.883-9dup
|
rs2142108094
|
|
NM_000126.4(ETFA):c.884_886del (p.Thr295del)
|
rs2038999395
|
|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
NM_000126.4(ETFA):c.891G>C (p.Val297=)
|
rs2142108075
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
NM_000126.4(ETFA):c.909A>G (p.Pro303=)
|
rs2142108061
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
|
|
|
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
|
|
|
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
|
|
|
NM_000126.4(ETFA):c.942A>C (p.Gly314=)
|
rs1253828046
|
|
NM_000126.4(ETFA):c.945A>C (p.Ile315=)
|
rs2142108038
|
|
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
|
|
|
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
|
|
|
NM_000126.4(ETFA):c.963+14G>A
|
|
|
NM_000126.4(ETFA):c.963+14G>C
|
rs1369553684
|
|
NM_000126.4(ETFA):c.963+17A>G
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000126.4(ETFA):c.963+8G>A
|
|
|
NM_000126.4(ETFA):c.963+9del
|
rs2038998662
|
|
NM_000126.4(ETFA):c.964-10T>C
|
rs1223890959
|
|
NM_000126.4(ETFA):c.964-18T>G
|
|
|
NM_000126.4(ETFA):c.964-20C>G
|
rs570818940
|
|
NM_000126.4(ETFA):c.964-20C>T
|
|
|
NM_000126.4(ETFA):c.964-4G>T
|
|
|
NM_000126.4(ETFA):c.972T>C (p.Pro324=)
|
rs1351662991
|
|
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)
|
rs2038898400
|
|
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
|
|
|
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
|
|
|
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
|
|
|
NM_000126.4(ETFA):c.99A>G (p.Leu33=)
|
|
|