NM_001244710.2(GFPT1):c.*2510A>T
|
rs61159728
|
0.02619
|
NM_001244710.2(GFPT1):c.*169C>T
|
rs6729690
|
0.00459
|
NM_001244710.2(GFPT1):c.*666T>C
|
rs543343212
|
0.00376
|
NM_001244710.2(GFPT1):c.*4259C>T
|
rs186353485
|
0.00253
|
NM_001244710.2(GFPT1):c.*2368C>T
|
rs572137795
|
0.00247
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
NM_001244710.2(GFPT1):c.*2509A>T
|
rs866089468
|
0.00055
|
NM_001244710.2(GFPT1):c.*1425C>T
|
rs781269204
|
0.00054
|
NM_001244710.2(GFPT1):c.*5261G>C
|
rs780713952
|
0.00049
|
NM_001244710.2(GFPT1):c.*6284G>A
|
rs533940046
|
0.00045
|
NM_001244710.2(GFPT1):c.*395C>T
|
rs537215984
|
0.00035
|
NM_001244710.2(GFPT1):c.*5353C>T
|
rs575765484
|
0.00031
|
NM_001244710.2(GFPT1):c.*454T>G
|
rs796956367
|
0.00030
|
NM_001244710.2(GFPT1):c.*3576A>G
|
rs150614742
|
0.00023
|
NM_001244710.2(GFPT1):c.*4650A>G
|
rs886056237
|
0.00022
|
NM_001244710.2(GFPT1):c.*1461T>G
|
rs146949335
|
0.00021
|
NM_001244710.2(GFPT1):c.*2634C>T
|
rs1002266594
|
0.00020
|
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)
|
rs142871135
|
0.00015
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_001244710.2(GFPT1):c.*2418C>T
|
rs966070692
|
0.00013
|
NM_001244710.2(GFPT1):c.*2758G>A
|
rs772432908
|
0.00013
|
NM_001244710.2(GFPT1):c.*2223C>T
|
rs145374217
|
0.00012
|
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)
|
rs948398303
|
0.00012
|
NM_001244710.2(GFPT1):c.*4121A>G
|
rs560298974
|
0.00011
|
NM_001244710.2(GFPT1):c.*6102T>G
|
rs950984771
|
0.00011
|
NM_001244710.2(GFPT1):c.*2325G>A
|
rs886056246
|
0.00010
|
NM_001244710.2(GFPT1):c.*5673C>T
|
rs191479634
|
0.00010
|
NM_001244710.2(GFPT1):c.*977T>C
|
rs182921837
|
0.00010
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)
|
rs536572222
|
0.00008
|
NM_001244710.2(GFPT1):c.*2464C>A
|
rs541938366
|
0.00007
|
NM_001244710.2(GFPT1):c.*2498A>G
|
rs1015403272
|
0.00007
|
NM_001244710.2(GFPT1):c.*3921C>T
|
rs766868319
|
0.00007
|
NM_001244710.2(GFPT1):c.*52C>A
|
rs554824301
|
0.00007
|
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)
|
rs753866967
|
0.00007
|
NM_001244710.2(GFPT1):c.*2420C>T
|
rs886056245
|
0.00006
|
NM_001244710.2(GFPT1):c.*4229A>T
|
rs190736026
|
0.00006
|
NM_001244710.2(GFPT1):c.*5514G>T
|
rs886056232
|
0.00006
|
NM_001244710.2(GFPT1):c.*689A>G
|
rs886056254
|
0.00006
|
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)
|
rs143036820
|
0.00006
|
NM_001244710.2(GFPT1):c.*176C>T
|
rs1428235397
|
0.00005
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_001244710.2(GFPT1):c.224-10T>C
|
rs777508704
|
0.00005
|
NM_001244710.2(GFPT1):c.*112C>T
|
rs886056258
|
0.00004
|
NM_001244710.2(GFPT1):c.*1464A>G
|
rs889572078
|
0.00004
|
NM_001244710.2(GFPT1):c.*3385G>A
|
rs886056240
|
0.00004
|
NM_001244710.2(GFPT1):c.*4761G>A
|
rs886056236
|
0.00004
|
NM_001244710.2(GFPT1):c.*5800G>A
|
rs1247018108
|
0.00004
|
NM_001244710.2(GFPT1):c.-153G>A
|
rs886056265
|
0.00004
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
NM_001244710.2(GFPT1):c.*1639A>G
|
rs886056249
|
0.00003
|
NM_001244710.2(GFPT1):c.*4724A>T
|
rs189919589
|
0.00003
|
NM_001244710.2(GFPT1):c.*5325T>G
|
rs867127128
|
0.00003
|
NM_001244710.2(GFPT1):c.*5448A>G
|
rs1051676273
|
0.00003
|
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)
|
rs779427303
|
0.00003
|
NM_001244710.2(GFPT1):c.*2410C>T
|
rs914030975
|
0.00002
|
NM_001244710.2(GFPT1):c.*2473C>T
|
rs886056244
|
0.00002
|
NM_001244710.2(GFPT1):c.*5390T>G
|
rs940728850
|
0.00002
|
NM_001244710.2(GFPT1):c.*6126A>G
|
rs886056229
|
0.00002
|
NM_001244710.2(GFPT1):c.*635G>A
|
rs1046512995
|
0.00002
|
NM_001244710.2(GFPT1):c.*86C>A
|
rs886056259
|
0.00002
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)
|
rs1463544616
|
0.00002
|
NM_001244710.2(GFPT1):c.*1083A>C
|
rs886056253
|
0.00001
|
NM_001244710.2(GFPT1):c.*1738C>A
|
rs557996332
|
0.00001
|
NM_001244710.2(GFPT1):c.*1741C>G
|
rs886056248
|
0.00001
|
NM_001244710.2(GFPT1):c.*196G>A
|
rs886056256
|
0.00001
|
NM_001244710.2(GFPT1):c.*1G>C
|
rs143011449
|
0.00001
|
NM_001244710.2(GFPT1):c.*2508A>T
|
rs1208953624
|
0.00001
|
NM_001244710.2(GFPT1):c.*2722C>T
|
rs892647803
|
0.00001
|
NM_001244710.2(GFPT1):c.*3021T>A
|
rs549806095
|
0.00001
|
NM_001244710.2(GFPT1):c.*3438A>G
|
rs575041449
|
0.00001
|
NM_001244710.2(GFPT1):c.*3579T>C
|
rs886056239
|
0.00001
|
NM_001244710.2(GFPT1):c.*5004G>A
|
rs560585699
|
0.00001
|
NM_001244710.2(GFPT1):c.*5713T>C
|
rs1239125022
|
0.00001
|
NM_001244710.2(GFPT1):c.-32C>T
|
rs771295091
|
0.00001
|
NM_001244710.2(GFPT1):c.-34C>T
|
rs886056262
|
0.00001
|
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)
|
rs1285177343
|
0.00001
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)
|
rs1247230551
|
0.00001
|
NM_001244710.2(GFPT1):c.1203+12T>A
|
rs886056260
|
0.00001
|
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)
|
rs914867145
|
0.00001
|
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)
|
rs759081713
|
0.00001
|
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)
|
rs1438504838
|
0.00001
|
NM_001244710.2(GFPT1):c.1494C>T (p.Ser498=)
|
rs766223183
|
0.00001
|
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)
|
rs1279403583
|
0.00001
|
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)
|
rs988021644
|
0.00001
|
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)
|
rs1308915445
|
0.00001
|
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)
|
rs772640415
|
0.00001
|
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)
|
rs368208403
|
0.00001
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+3A>G
|
rs937857366
|
0.00001
|
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)
|
rs192925673
|
0.00001
|
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)
|
rs755890938
|
0.00001
|
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)
|
rs987906924
|
0.00001
|
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)
|
rs1034928233
|
0.00001
|
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)
|
rs773850508
|
0.00001
|
NM_001244710.2(GFPT1):c.606-3C>T
|
rs1286081479
|
0.00001
|
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)
|
rs1489383761
|
0.00001
|
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)
|
rs764200601
|
0.00001
|
NC_000002.11:g.(?_69553299)_(69597260_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)dup
|
|
|
NC_000002.11:g.(?_69597123)_(69597250_?)del
|
|
|
NM_001244710.2(GFPT1):c.*1057G>A
|
rs1670498399
|
|
NM_001244710.2(GFPT1):c.*1090G>A
|
rs886056252
|
|
NM_001244710.2(GFPT1):c.*1168C>T
|
rs886056251
|
|
NM_001244710.2(GFPT1):c.*1401G>A
|
rs868495183
|
|
NM_001244710.2(GFPT1):c.*1540A>T
|
rs886056250
|
|
NM_001244710.2(GFPT1):c.*1869A>G
|
rs886056247
|
|
NM_001244710.2(GFPT1):c.*186G>T
|
rs886056257
|
|
NM_001244710.2(GFPT1):c.*1901A>G
|
rs989010524
|
|
NM_001244710.2(GFPT1):c.*2017A>G
|
rs1670478208
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.*22C>T
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.*2323C>T
|
rs1026843260
|
|
NM_001244710.2(GFPT1):c.*2622G>A
|
rs1670462400
|
|
NM_001244710.2(GFPT1):c.*2720C>T
|
rs886056243
|
|
NM_001244710.2(GFPT1):c.*272T>G
|
rs1670519345
|
|
NM_001244710.2(GFPT1):c.*3019G>T
|
rs886056242
|
|
NM_001244710.2(GFPT1):c.*3090G>T
|
rs886056241
|
|
NM_001244710.2(GFPT1):c.*3091A>T
|
rs7582334
|
|
NM_001244710.2(GFPT1):c.*3287G>A
|
rs1670448736
|
|
NM_001244710.2(GFPT1):c.*3345C>G
|
rs73937245
|
|
NM_001244710.2(GFPT1):c.*3679G>C
|
rs531890221
|
|
NM_001244710.2(GFPT1):c.*383T>G
|
rs886056255
|
|
NM_001244710.2(GFPT1):c.*4230C>T
|
rs555260998
|
|
NM_001244710.2(GFPT1):c.*4375A>G
|
rs1670408570
|
|
NM_001244710.2(GFPT1):c.*4520G>C
|
rs886056238
|
|
NM_001244710.2(GFPT1):c.*4830A>G
|
rs1670399708
|
|
NM_001244710.2(GFPT1):c.*5432G>A
|
rs886056233
|
|
NM_001244710.2(GFPT1):c.*5437G>A
|
rs1670383958
|
|
NM_001244710.2(GFPT1):c.*5464A>G
|
rs115361740
|
|
NM_001244710.2(GFPT1):c.*5476C>T
|
rs921980900
|
|
NM_001244710.2(GFPT1):c.*5764A>G
|
rs1670377831
|
|
NM_001244710.2(GFPT1):c.*5820C>T
|
rs1670376889
|
|
NM_001244710.2(GFPT1):c.*5884A>G
|
rs1670375941
|
|
NM_001244710.2(GFPT1):c.*6016C>T
|
rs886056230
|
|
NM_001244710.2(GFPT1):c.*6039G>T
|
rs1670373103
|
|
NM_001244710.2(GFPT1):c.*6136C>T
|
rs1670370978
|
|
NM_001244710.2(GFPT1):c.*6378G>A
|
rs560039272
|
|
NM_001244710.2(GFPT1):c.*819T>C
|
rs753245475
|
|
NM_001244710.2(GFPT1):c.-125C>T
|
rs886056263
|
|
NM_001244710.2(GFPT1):c.-143G>T
|
rs886056264
|
|
NM_001244710.2(GFPT1):c.-80T>C
|
rs568491194
|
|
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
|
|
|
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
|
|
|
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
|
|
|
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
|
|
|
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)
|
rs1670968909
|
|
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)
|
rs1671812593
|
|
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)
|
rs1553388425
|
|
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)
|
rs1553388422
|
|
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)
|
rs1553388418
|
|
NM_001244710.2(GFPT1):c.1204-3C>T
|
rs1307653021
|
|
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)
|
rs1670858310
|
|
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)
|
rs2104617186
|
|
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)
|
rs1287808167
|
|
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
|
|
|
NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp)
|
|
|
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)
|
rs1558773904
|
|
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
|
|
|
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
|
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)
|
rs1670840972
|
|
NM_001244710.2(GFPT1):c.1416A>G (p.Ile472Met)
|
|
|
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=)
|
rs1269092915
|
|
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
|
|
|
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)
|
rs1670617199
|
|
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)
|
rs1553386276
|
|
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)
|
rs2104600845
|
|
NM_001244710.2(GFPT1):c.1547C>T (p.Ser516Phe)
|
|
|
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)
|
rs1421146245
|
|
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
|
|
|
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
|
|
|
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly)
|
rs757328377
|
|
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
|
|
|
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
|
|
|
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)
|
rs2104595615
|
|
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)
|
rs1670547736
|
|
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
|
rs1553385828
|
|
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)
|
rs772026265
|
|
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)
|
rs1574039131
|
|
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)
|
rs2104595457
|
|
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)
|
rs1670545826
|
|
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)
|
rs2104595390
|
|
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)
|
rs1671705543
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)
|
rs1671535131
|
|
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
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NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
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NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)
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rs1553393940
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NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)
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rs1574074621
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NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)
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rs1574074621
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NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
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NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
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NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)
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rs1671532532
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NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)
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rs539052842
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NM_001244710.2(GFPT1):c.350-3T>C
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NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)
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rs1671414273
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NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
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NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
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NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
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NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
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|
|
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)
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rs2104655675
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NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)
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rs2104655632
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NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
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rs775399768
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NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu)
|
rs1671390527
|
|
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
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|
|
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
|
rs370171865
|
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NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
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|
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NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
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rs2104648108
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NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)
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rs1671287962
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NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
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NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)
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rs2104648017
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NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
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NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
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|
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NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)
|
rs2104647589
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NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)
|
rs1164347284
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NM_001244710.2(GFPT1):c.740-11A>G
|
rs769311395
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NM_001244710.2(GFPT1):c.740-8T>C
|
rs2104639173
|
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NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)
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rs2104639027
|
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NM_001244710.2(GFPT1):c.845+6C>T
|
rs767647134
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NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly)
|
rs372840289
|
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NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)
|
rs372840289
|
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NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)
|
rs2104635949
|
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NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)
|
rs1553389515
|
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NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
|
|
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NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)
|
rs1671813015
|
|