NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
0.00005
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)
|
rs184599884
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr)
|
rs104894588
|
0.00004
|
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)
|
rs121908023
|
0.00004
|
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)
|
rs118203913
|
0.00004
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)
|
rs74526704
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_024079.5(ALG8):c.673+4A>G
|
rs1470636347
|
0.00003
|
NM_024105.4(ALG12):c.671C>T (p.Thr224Met)
|
rs755892540
|
0.00003
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
|
rs28934876
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter)
|
rs62130681
|
0.00002
|
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)
|
rs749968109
|
0.00002
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.256-1G>C
|
rs757394782
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)
|
rs104894533
|
0.00001
|
NM_001382.4(DPAGT1):c.161+5G>A
|
rs397515322
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)
|
rs587777401
|
0.00001
|
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)
|
rs121918371
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)
|
rs104894589
|
0.00001
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_019109.5(ALG1):c.1129A>G (p.Met377Val)
|
rs387906925
|
0.00001
|
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
|
rs121908340
|
0.00001
|
NM_024105.4(ALG12):c.117del (p.Gln40fs)
|
rs761221480
|
0.00001
|
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)
|
rs121907933
|
0.00001
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
NM_178862.3(STT3B):c.1539+20G>T
|
rs587777217
|
0.00001
|
ALG9, GLU359LYS
|
|
|
NC_000016.10:g.8852245_8823657delinsAluYb8
|
|
|
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)
|
rs104894530
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)
|
rs104894531
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)
|
rs387907182
|
|
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)
|
rs387907183
|
|
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)
|
rs1064795803
|
|
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)
|
rs794727256
|
|
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)
|
rs267606652
|
|
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)
|
rs387907180
|
|
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)
|
rs387907181
|
|
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)
|
rs1064795802
|
|
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)
|
rs387907184
|
|
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)
|
rs1064796372
|
|
NM_001099922.3(ALG13):c.2458-15_2486del
|
rs770762084
|
|
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)
|
rs867599353
|
|
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)
|
rs1945385727
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)
|
rs1569547876
|
|
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)
|
rs373260156
|
|
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)
|
rs397514586
|
|
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)
|
rs397515327
|
|
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)
|
rs397515329
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.413T>C (p.Met138Thr)
|
rs104894495
|
|
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
|
|
NM_002633.3(PGM1):c.1145-1G>C
|
rs587776801
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)
|
rs398122912
|
|
NM_002633.3(PGM1):c.661del (p.Arg221fs)
|
rs587777405
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)
|
rs121908583
|
|
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)
|
rs1272097668
|
|
NM_003859.3(DPM1):c.373-5T>A
|
rs587777115
|
|
NM_003859.3(DPM1):c.628del (p.Gln210fs)
|
rs1568757730
|
|
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)
|
rs587777114
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)
|
rs1185338798
|
|
NM_003863.4(DPM2):c.4-1G>C
|
rs797044467
|
|
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)
|
rs397514503
|
|
NM_004341.5(CAD):c.1843-1G>A
|
rs769567624
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004341.5(CAD):c.98T>G (p.Met33Arg)
|
rs751610198
|
|
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)
|
rs104894587
|
|
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs)
|
rs587776874
|
|
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)
|
rs387906831
|
|
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)
|
rs119103237
|
|
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp)
|
rs28940588
|
|
NM_005787.6(ALG3):c.470T>A (p.Met157Lys)
|
rs119103238
|
|
NM_006280.3(SSR4):c.187-301_352-15del
|
rs1557072752
|
|
NM_006280.3(SSR4):c.317del (p.Phe106fs)
|
rs606231298
|
|
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)
|
rs794729223
|
|
NM_006280.3(SSR4):c.417+1G>A
|
rs1057518735
|
|
NM_006280.3(SSR4):c.418-1G>A
|
rs1057518736
|
|
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)
|
rs121908444
|
|
NM_013339.4(ALG6):c.167+5G>A
|
rs1557585860
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_014908.4(DOLK):c.1222C>G (p.His408Asp)
|
rs387907030
|
|
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)
|
rs137853110
|
|
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser)
|
rs137853109
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_014908.4(DOLK):c.3G>A (p.Met1Ile)
|
rs1564546510
|
|
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys)
|
rs1564545929
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
|
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)
|
rs387906927
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs)
|
rs2136876881
|
|
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)
|
rs121908293
|
|
NM_024079.5(ALG8):c.396dup (p.Val133fs)
|
rs753631154
|
|
NM_024079.5(ALG8):c.413del (p.Thr138fs)
|
rs387906277
|
|
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)
|
rs121908294
|
|
NM_024079.5(ALG8):c.96-2A>G
|
rs1555073109
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter)
|
rs121907935
|
|
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)
|
rs121907931
|
|
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)
|
rs28942090
|
|
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro)
|
rs121907934
|
|
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter)
|
rs587776521
|
|
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)
|
rs267607094
|
|
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)
|
rs267607093
|
|
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)
|
rs267607095
|
|
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter)
|
rs267607092
|
|
NM_024740.2(ALG9):c.1173+2T>A
|
rs786205134
|
|
NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro)
|
rs2136827755
|
|
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)
|
rs121908022
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)
|
rs730882051
|
|
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)
|
rs730882123
|
|
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn)
|
rs730880304
|
|
NM_033087.4(ALG2):c.752G>T (p.Arg251Leu)
|
rs201729325
|
|
NM_052859.4(RFT1):c.1222A>G (p.Met408Val)
|
rs796053522
|
|
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys)
|
rs772820136
|
|
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg)
|
rs772820136
|
|
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys)
|
rs796053521
|
|
NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
|
NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)
|
rs587777216
|
|
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
|
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)
|
rs121908155
|
|
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)
|
rs121908155
|
|
NM_178862.3(STT3B):c.38C>G (p.Ser13Trp)
|
rs1696976315
|
|
PGM1, ARG521TER
|
|
|