NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
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NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
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|
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NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
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NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
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NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
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NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
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NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
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NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)
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NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
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NM_000018.4(ACADVL):c.475del (p.Gln159fs)
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NM_000018.4(ACADVL):c.589del (p.Gln197fs)
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NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
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NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
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NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
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NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
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NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
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NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
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NM_000023.4(SGCA):c.119del (p.Leu40fs)
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NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
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NM_000023.4(SGCA):c.84_90del (p.His29fs)
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NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
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NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
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NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
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NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
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NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
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NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
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NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
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NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
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NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
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NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
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NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
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NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
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NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
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NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
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NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter)
|
rs1669918554
|
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NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
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NM_000182.5(HADHA):c.1432del (p.Ala478fs)
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NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter)
|
rs1669632177
|
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NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
|
|
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NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
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NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
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NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
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NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
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NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
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NM_000182.5(HADHA):c.359C>A (p.Ser120Ter)
|
rs1670695099
|
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NM_000182.5(HADHA):c.439G>T (p.Gly147Ter)
|
rs1460602961
|
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NM_000182.5(HADHA):c.451G>T (p.Glu151Ter)
|
rs1670693281
|
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NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter)
|
rs11552518
|
|
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
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|
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NM_000182.5(HADHA):c.640A>T (p.Lys214Ter)
|
rs1670589674
|
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NM_000182.5(HADHA):c.667G>T (p.Glu223Ter)
|
rs1670587952
|
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NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
|
|
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NM_000182.5(HADHA):c.761del (p.Lys254fs)
|
|
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NM_000182.5(HADHA):c.859G>T (p.Glu287Ter)
|
rs1670172615
|
|
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter)
|
rs1670172561
|
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NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)
|
rs1670128490
|
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NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
|
|
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NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
|
|
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NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
|
|
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NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
|
|
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NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
|
|
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NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
|
|
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NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
|
|
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NM_001079802.2(FKTN):c.378del (p.Trp126fs)
|
|
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NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
|
|
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NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
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NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
|
|
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NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
|
|
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NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
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NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
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NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
|
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NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
|
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NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
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NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
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