NM_000126.4(ETFA):c.*99G>A
|
rs140121559
|
0.00250
|
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.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.-7G>A
|
rs779643894
|
0.00005
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
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.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
NM_000126.4(ETFA):c.883-3C>T
|
rs772701864
|
0.00003
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
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.268+3G>A
|
rs1160396237
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
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.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.876C>A (p.Asp292Glu)
|
rs778807824
|
0.00001
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
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.(?_76603671)_(76603729_?)dup
|
|
|
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.136C>T (p.Arg46Cys)
|
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)
|
rs2039778846
|
|
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
|
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
|
|
|
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.345C>A (p.Phe115Leu)
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
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.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
|
|
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
|
|
|
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
|
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
|
|
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.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
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.69_140del (p.Val24_Leu47del)
|
|
|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
|
|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
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+3A>G
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
|
|
|
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.963+1del
|
rs746488455
|
|
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)
|
|
|