NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000375.3(UROS):c.63+1G>A
|
rs373864821
|
0.00006
|
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
|
rs121908020
|
0.00006
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
|
rs118204085
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)
|
rs121908015
|
0.00003
|
NM_000375.3(UROS):c.661-31T>G
|
rs750180293
|
0.00003
|
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg)
|
rs267606851
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000175.5(GPI):c.14C>T (p.Thr5Ile)
|
rs267606852
|
0.00001
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)
|
rs398122379
|
0.00001
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
|
rs771145576
|
0.00001
|
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)
|
rs121964848
|
0.00001
|
NM_000375.3(UROS):c.-203T>C
|
rs1554891988
|
0.00001
|
NM_000375.3(UROS):c.-26-193C>A
|
rs397515350
|
0.00001
|
NM_000375.3(UROS):c.184A>G (p.Thr62Ala)
|
rs28941775
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)
|
rs751972865
|
0.00001
|
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys)
|
rs121964925
|
0.00001
|
NM_001724.5(BPGM):c.269G>A (p.Arg90His)
|
rs781222092
|
0.00001
|
G6PD Amsterdam
|
rs2070404412
|
|
G6PD NARA
|
rs587776730
|
|
NC_000001.11:g.155301478C>G
|
rs2148221101
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg)
|
rs267606853
|
|
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)
|
rs137853585
|
|
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
|
rs137853249
|
|
NM_000188.3(HK1):c.497_591+1del
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1341+1G>T
|
rs755419857
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)
|
rs121918196
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.428-2A>C
|
rs895690691
|
|
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)
|
rs118204084
|
|
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
|
rs118204089
|
|
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
|
rs118204083
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
NM_000365.6(TPI1):c.32dup (p.Asn12fs)
|
rs587777441
|
|
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)
|
rs121964850
|
|
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
|
rs121964849
|
|
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)
|
rs121964847
|
|
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)
|
rs587777440
|
|
NM_000375.2(UROS):c.148_244del
|
rs2133941461
|
|
NM_000375.3(UROS):c.-26-183G>A
|
rs397515349
|
|
NM_000375.3(UROS):c.-26-197C>A
|
rs397515351
|
|
NM_000375.3(UROS):c.158C>T (p.Pro53Leu)
|
rs121908013
|
|
NM_000375.3(UROS):c.197C>T (p.Ala66Val)
|
rs28941774
|
|
NM_000375.3(UROS):c.243A>T (p.Glu81Asp)
|
rs121908018
|
|
NM_000375.3(UROS):c.395-1dup
|
rs796051859
|
|
NM_000375.3(UROS):c.562G>A (p.Gly188Arg)
|
rs121908017
|
|
NM_000375.3(UROS):c.562G>T (p.Gly188Trp)
|
rs121908017
|
|
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)
|
rs121908021
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)
|
rs137852336
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly)
|
rs121909533
|
|
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)
|
rs121909534
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001724.5(BPGM):c.61del (p.Arg21fs)
|
rs786205092
|
|
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)
|
rs1057518396
|
|
NM_002049.4(GATA1):c.920G>A (p.Arg307His)
|
rs1557020556
|
|
PKLR, 1-BP DEL
|
|
|
UROS, 80-BP INS
|
|
|