ClinVar Miner

List of variants in gene ETFA studied for acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 460
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HGVS dbSNP gnomAD frequency
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=)

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