NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
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rs201337954
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0.00031
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NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)
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rs768131676
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0.00003
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NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
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rs757712371
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0.00002
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NM_018297.4(NGLY1):c.857_873del (p.Cys286fs)
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rs1375323331
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0.00002
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NM_018297.4(NGLY1):c.1150-1G>C
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rs532007026
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0.00001
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NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)
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rs146140738
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0.00001
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NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)
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rs528583612
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0.00001
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NM_018297.4(NGLY1):c.930C>T (p.Gly310=)
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rs745814294
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0.00001
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NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
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rs201791209
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0.00001
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NM_018297.4(NGLY1):c.961C>T (p.Arg321Ter)
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rs755009745
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0.00001
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GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
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NC_000003.11:g.(25781291_25792588)_(25792755_25805556)del
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NC_000003.11:g.(?_25760931)_(25831376_?)del
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NC_000003.12:g.(?_25751078)_(25751283_?)del
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NC_000003.12:g.25719635_25719641del
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NM_018297.4(NGLY1):c.-18GCCCGCTGGCGCTCAAGCATGGCGGCGGCGGC[3] (p.Leu6fs)
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rs762131179
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NM_018297.4(NGLY1):c.1067A>G (p.Glu356Gly)
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rs1705803915
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NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
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NM_018297.4(NGLY1):c.1109dup (p.Lys371fs)
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NM_018297.4(NGLY1):c.1167G>A (p.Trp389Ter)
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NM_018297.4(NGLY1):c.1168C>T (p.Arg390Ter)
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rs751805500
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NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)
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rs1135401728
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NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
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NM_018297.4(NGLY1):c.1202GAA[1] (p.Arg402del)
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rs587777266
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NM_018297.4(NGLY1):c.1242del (p.Asn415fs)
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rs1575616394
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NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter)
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rs1575614945
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NM_018297.4(NGLY1):c.127del (p.Leu43fs)
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NM_018297.4(NGLY1):c.1303C>T (p.Gln435Ter)
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NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)
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rs587777265
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NM_018297.4(NGLY1):c.1431_1435del (p.Lys477fs)
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rs750294252
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NM_018297.4(NGLY1):c.1442_1452del (p.Leu480_Phe481insTer)
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|
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NM_018297.4(NGLY1):c.1449del (p.Cys484fs)
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rs2125459914
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NM_018297.4(NGLY1):c.1474C>T (p.Gln492Ter)
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rs2125459806
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NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)
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rs1575612023
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NM_018297.4(NGLY1):c.1491C>A (p.Tyr497Ter)
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NM_018297.4(NGLY1):c.14_15insGCCCGCTGGCGCTCAAGCATGGCGGCGGCGGCGGC (p.Leu6fs)
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NM_018297.4(NGLY1):c.1512T>A (p.Tyr504Ter)
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|
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NM_018297.4(NGLY1):c.1515del (p.Arg506fs)
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rs1705416478
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NM_018297.4(NGLY1):c.1516C>T (p.Arg506Ter)
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|
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NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
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rs765211108
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NM_018297.4(NGLY1):c.1551G>A (p.Trp517Ter)
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rs2125459623
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NM_018297.4(NGLY1):c.1570dup (p.Met524fs)
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rs1553652151
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NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)
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rs767388144
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NM_018297.4(NGLY1):c.1632_1635del (p.Glu544fs)
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NM_018297.4(NGLY1):c.1637del (p.Ser546fs)
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NM_018297.4(NGLY1):c.1722_1723insCA (p.Thr575fs)
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rs2125442902
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NM_018297.4(NGLY1):c.1736del (p.Gly579fs)
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NM_018297.4(NGLY1):c.173del (p.Asn58fs)
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NM_018297.4(NGLY1):c.1746del (p.Glu582fs)
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NM_018297.4(NGLY1):c.1748G>A (p.Trp583Ter)
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rs2125442838
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NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter)
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NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
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NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)
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rs2125442722
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NM_018297.4(NGLY1):c.1771C>T (p.Gln591Ter)
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rs765145201
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NM_018297.4(NGLY1):c.177del (p.Ala60fs)
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rs2125321733
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NM_018297.4(NGLY1):c.1789+1G>T
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rs1261363915
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NM_018297.4(NGLY1):c.1819dup (p.Ser607fs)
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rs1470912253
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NM_018297.4(NGLY1):c.1837del (p.Ile613fs)
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rs1704873196
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NM_018297.4(NGLY1):c.1882del (p.Gln628fs)
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NM_018297.4(NGLY1):c.1891del (p.Gln631fs)
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rs587776982
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NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)
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rs1135401730
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NM_018297.4(NGLY1):c.236del (p.Gly79fs)
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NM_018297.4(NGLY1):c.247-1G>A
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rs1575650389
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NM_018297.4(NGLY1):c.247-2A>G
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|
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NM_018297.4(NGLY1):c.247-2A>T
|
|
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NM_018297.4(NGLY1):c.270del (p.Ala93fs)
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NM_018297.4(NGLY1):c.276del (p.Ala93fs)
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NM_018297.4(NGLY1):c.301dup (p.Ile101fs)
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|
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NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter)
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rs907852687
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NM_018297.4(NGLY1):c.35C>A (p.Ser12Ter)
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|
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NM_018297.4(NGLY1):c.376C>T (p.Gln126Ter)
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|
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NM_018297.4(NGLY1):c.39del (p.Ser14fs)
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rs1553666033
|
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NM_018297.4(NGLY1):c.419C>G (p.Ser140Ter)
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|
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NM_018297.4(NGLY1):c.440_441del (p.Gln147fs)
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NM_018297.4(NGLY1):c.531dup (p.Asn178fs)
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NM_018297.4(NGLY1):c.555T>A (p.Tyr185Ter)
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NM_018297.4(NGLY1):c.562_563del (p.Pro188fs)
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|
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NM_018297.4(NGLY1):c.571C>T (p.Gln191Ter)
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rs376678889
|
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NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)
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rs200561967
|
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NM_018297.4(NGLY1):c.63C>A (p.Cys21Ter)
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|
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NM_018297.4(NGLY1):c.710T>C (p.Phe237Ser)
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rs2125485574
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NM_018297.4(NGLY1):c.726dup (p.His243fs)
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rs1706033199
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NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg)
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rs1135401729
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NM_018297.4(NGLY1):c.731G>A (p.Trp244Ter)
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|
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NM_018297.4(NGLY1):c.781dup (p.Asp261fs)
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NM_018297.4(NGLY1):c.819G>A (p.Trp273Ter)
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NM_018297.4(NGLY1):c.849T>G (p.Cys283Trp)
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rs1706021603
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NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)
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rs772994617
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NM_018297.4(NGLY1):c.881+5G>T
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rs1135401731
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NM_018297.4(NGLY1):c.904_905del (p.Leu302fs)
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rs2125479237
|
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NM_018297.4(NGLY1):c.948_949insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGCCAATTGTTTT (p.Thr317delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
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NM_018297.4(NGLY1):c.997dup (p.Tyr333fs)
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rs2125478810
|
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NM_018297.4(NGLY1):c.999C>A (p.Tyr333Ter)
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rs2125478800
|
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