NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
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_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
|
rs745590426
|
0.00004
|
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)
|
rs200605408
|
0.00004
|
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)
|
rs780107088
|
0.00004
|
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)
|
rs118203913
|
0.00004
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
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_024105.4(ALG12):c.671C>T (p.Thr224Met)
|
rs755892540
|
0.00003
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
|
rs780581250
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_002435.3(MPI):c.264del (p.Asp88fs)
|
rs868127074
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)
|
rs546890576
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_019109.5(ALG1):c.1187+1G>A
|
rs374928784
|
0.00002
|
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)
|
rs746019074
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
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.284del (p.Leu95fs)
|
rs757865122
|
0.00001
|
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)
|
rs770458492
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
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.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)
|
rs1057521151
|
0.00001
|
NM_001382.4(DPAGT1):c.26dup (p.Met9fs)
|
rs768656482
|
0.00001
|
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)
|
rs1555207826
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)
|
rs1453920894
|
0.00001
|
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)
|
rs770066171
|
0.00001
|
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)
|
rs1324743951
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.510del (p.Gly172fs)
|
rs773277552
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)
|
rs750451819
|
0.00001
|
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
|
rs121908340
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)
|
rs1956935335
|
0.00001
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter)
|
rs772492143
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_024105.4(ALG12):c.117del (p.Gln40fs)
|
rs761221480
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)
|
rs782775735
|
0.00001
|
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)
|
rs1557794919
|
0.00001
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
NC_000001.10:g.(?_63836639)_(63902701_?)del
|
|
|
NC_000001.10:g.(?_63836649)_(63836750_?)del
|
|
|
NC_000001.10:g.(?_63867905)_(63902691_?)del
|
|
|
NC_000001.10:g.(?_63885021)_(63885131_?)del
|
|
|
NC_000001.11:g.(?_63428723)_(63429136_?)del
|
|
|
NC_000004.11:g.(?_56225493)_(56225675_?)del
|
|
|
NC_000006.11:g.(?_116441236)_(119252888_?)del
|
|
|
NC_000006.11:g.(?_117996834)_(117997268_?)del
|
|
|
NC_000006.11:g.(?_118014185)_(118014350_?)del
|
|
|
NC_000009.11:g.(?_130216807)_(130953136_?)del
|
|
|
NC_000011.9:g.(?_111657121)_(111922093_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)del
|
|
|
NC_000013.10:g.(?_52585403)_(52602726_?)del
|
|
|
NC_000016.10:g.(?_8779459)_(8847845_?)del
|
|
|
NC_000016.10:g.(?_8797873)_(8797958_?)del
|
|
|
NC_000016.10:g.(?_8797873)_(8813116_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8804853_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8813116_?)del
|
|
|
NC_000016.10:g.(?_8811069)_(8832245_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5125557_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)del
|
|
|
NC_000016.9:g.(?_8900163)_(8941692_?)del
|
|
|
NC_000016.9:g.(?_8905475)_(8905590_?)del
|
|
|
NC_000016.9:g.(?_8906828)_(8906983_?)del
|
|
|
NC_000020.10:g.(?_49507942)_(49576762_?)del
|
|
|
NC_000020.11:g.(?_50934864)_(50958574_?)del
|
|
|
NC_000022.10:g.(?_50297466)_(51066227_?)del
|
|
|
NC_000022.10:g.(?_50297486)_(50307413_?)del
|
|
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)
|
rs1057520708
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
|
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.201_202del (p.Phe68fs)
|
rs1343161886
|
|
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)
|
rs373788015
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
|
|
|
NM_000303.3(PMM2):c.231del (p.Asp78fs)
|
|
|
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)
|
rs2060637616
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.255+1G>C
|
|
|
NM_000303.3(PMM2):c.255+2T>G
|
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.264_265del (p.His90fs)
|
rs2141019983
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
|
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
|
|
|
NM_000303.3(PMM2):c.377_381del (p.Met126fs)
|
rs2141022986
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.385G>T (p.Val129Leu)
|
rs104894525
|
|
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
|
|
|
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe)
|
rs753632453
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter)
|
rs2141023340
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.457dup (p.Ile153fs)
|
rs2141023345
|
|
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
|
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
|
|
|
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
|
rs754407762
|
|
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
|
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.523+1del
|
rs2141023403
|
|
NM_000303.3(PMM2):c.55del (p.Ala19fs)
|
rs1596481889
|
|
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)
|
rs201855351
|
|
NM_000303.3(PMM2):c.562del (p.Asp188fs)
|
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)
|
rs201440361
|
|
NM_000303.3(PMM2):c.584_585del (p.His195fs)
|
|
|
NM_000303.3(PMM2):c.59del (p.Pro20fs)
|
rs2141014161
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.639+2T>C
|
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
|
|
|
NM_000303.3(PMM2):c.66+1G>A
|
rs937726878
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.67-2A>G
|
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)
|
rs151319324
|
|
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
|
|
|
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)
|
rs2060937980
|
|
NM_000303.3(PMM2):c.72del (p.Thr25fs)
|
rs2060617981
|
|
NM_000303.3(PMM2):c.73dup (p.Thr25fs)
|
rs2141016934
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
|
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
|
rs1315559074
|
|
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)
|
rs2134919748
|
|
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
|
|
|
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)
|
rs2134901573
|
|
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
|
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
|
|
|
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
|
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
|
|
NM_002435.3(MPI):c.1022dup (p.Val342fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.1034dup (p.Thr346fs)
|
rs2141208718
|
|
NM_002435.3(MPI):c.1053+2T>C
|
rs2141208760
|
|
NM_002435.3(MPI):c.1058del (p.Pro353fs)
|
|
|
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs)
|
rs2064839839
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
|
|
|
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
|
|
|
NM_002435.3(MPI):c.1166del (p.Pro389fs)
|
|
|
NM_002435.3(MPI):c.122del (p.Ala41fs)
|
|
|
NM_002435.3(MPI):c.150G>A (p.Trp50Ter)
|
rs1406722622
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.206del (p.Lys69fs)
|
|
|
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
|
|
|
NM_002435.3(MPI):c.335_338del (p.His112fs)
|
rs2141197839
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002435.3(MPI):c.370dup (p.Gln124fs)
|
|
|
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
|
|
|
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.44del (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.490del (p.Val164fs)
|
|
|
NM_002435.3(MPI):c.593dup (p.Ser199fs)
|
|
|
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
|
|
|
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
|
|
|
NM_002435.3(MPI):c.631del (p.Glu211fs)
|
rs1374119101
|
|
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer)
|
rs2141200617
|
|
NM_002435.3(MPI):c.657del (p.Ile220fs)
|
|
|
NM_002435.3(MPI):c.65del (p.Gly22fs)
|
|
|
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
|
|
|
NM_002435.3(MPI):c.706dup (p.Glu236fs)
|
|
|
NM_002435.3(MPI):c.713del (p.Leu238fs)
|
rs745432667
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.745dup (p.Ile249fs)
|
rs2141206676
|
|
NM_002435.3(MPI):c.751del (p.Cys251fs)
|
|
|
NM_002435.3(MPI):c.753del (p.Phe252fs)
|
rs2141206722
|
|
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
|
|
|
NM_002435.3(MPI):c.792dup (p.Gly265fs)
|
|
|
NM_002435.3(MPI):c.820dup (p.Val274fs)
|
rs1567268668
|
|
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
|
|
|
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
|
|
|
NM_002435.3(MPI):c.84_88del (p.Arg29fs)
|
rs753839890
|
|
NM_002435.3(MPI):c.880dup (p.Val294fs)
|
rs1555479351
|
|
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
|
|
|
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
|
|
|
NM_002435.3(MPI):c.991del (p.Glu331fs)
|
rs1555479423
|
|
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
|
rs1170935238
|
|
NM_002633.3(PGM1):c.1091del (p.Asn364fs)
|
rs1557437034
|
|
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
|
|
NM_002633.3(PGM1):c.119del (p.Ile40fs)
|
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.1474del (p.Leu492fs)
|
rs1376645472
|
|
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
|
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.28_37del (p.Gln10fs)
|
rs759220275
|
|
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
|
|
|
NM_002633.3(PGM1):c.661del (p.Arg221fs)
|
rs587777405
|
|
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
|
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_002633.3(PGM1):c.929_930del (p.Val310fs)
|
rs2100988650
|
|
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
|
|
|
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)
|
rs1350257432
|
|
NM_003859.3(DPM1):c.182del (p.Ile61fs)
|
|
|
NM_003859.3(DPM1):c.1A>G (p.Met1Val)
|
rs139624629
|
|
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.409G>T (p.Glu137Ter)
|
rs753780084
|
|
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)
|
rs781115721
|
|
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
|
|
|
NM_003859.3(DPM1):c.52del (p.Glu18fs)
|
rs759278634
|
|
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
|
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.29del (p.Gly10fs)
|
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)
|
rs958086368
|
|
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1605+1G>A
|
rs1956646992
|
|
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)
|
rs1956686080
|
|
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)
|
rs2135920743
|
|
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
|
|
|
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
|
|
|
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
|
|
|
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
|
|
|
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
|
|
|
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1029dup (p.His344fs)
|
|
|
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
|
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1171_1172del (p.Val391fs)
|
rs2100440701
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)
|
rs759308812
|
|
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
|
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter)
|
rs1644631921
|
|
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
|
|
|
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1326+1G>T
|
rs1475789647
|
|
NM_013339.4(ALG6):c.1338dup (p.Val447fs)
|
rs1644681692
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.147del (p.Phe49fs)
|
|
|
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
|
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
|
|
|
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs)
|
rs2100412885
|
|
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
|
|
|
NM_013339.4(ALG6):c.290del (p.Leu97fs)
|
rs1644480895
|
|
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter)
|
rs1240285695
|
|
NM_013339.4(ALG6):c.352del (p.Ile118fs)
|
|
|
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
|
|
|
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter)
|
rs2100417039
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
|
|
|
NM_013339.4(ALG6):c.452del (p.Leu151fs)
|
rs1349358854
|
|
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs)
|
rs2100417620
|
|
NM_013339.4(ALG6):c.492dup (p.Gln165fs)
|
rs1644493041
|
|
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
|
|
|
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
|
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
|
|
|
NM_013339.4(ALG6):c.574del (p.Ala192fs)
|
rs2100420854
|
|
NM_013339.4(ALG6):c.634del (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.642del (p.Leu214fs)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.714del (p.Val239fs)
|
|
|
NM_013339.4(ALG6):c.723del (p.Phe242fs)
|
rs755112036
|
|
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.789_790del (p.Phe264fs)
|
rs767943869
|
|
NM_013339.4(ALG6):c.791del (p.Phe264fs)
|
rs2100421716
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
|
|
|
NM_013339.4(ALG6):c.835del (p.Trp279fs)
|
rs2100423312
|
|
NM_013339.4(ALG6):c.849del (p.Asn283fs)
|
rs1644530448
|
|
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
|
|
|
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
|
|
|
NM_014908.4(DOLK):c.3G>A (p.Met1Ile)
|
rs1564546510
|
|
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)
|
rs794726944
|
|
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)
|
rs398124347
|
|
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_019109.5(ALG1):c.1063del (p.Leu355fs)
|
rs758259853
|
|
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)
|
rs1299775990
|
|
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
|
|
|
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
|
|
|
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)
|
rs1386102245
|
|
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
|
|
|
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
|
|
|
NM_019109.5(ALG1):c.1263+2T>C
|
|
|
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
|
|
|
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)
|
rs1261895166
|
|
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
|
|
|
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
|
|
|
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
|
|
|
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)
|
rs1596252105
|
|
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
|
|
|
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)
|
rs199553558
|
|
NM_019109.5(ALG1):c.318dup (p.Val107fs)
|
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
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NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs)
|
rs1956891979
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NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)
|
rs121908340
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NM_019109.5(ALG1):c.486dup (p.Ile163fs)
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NM_019109.5(ALG1):c.512dup (p.Asn171fs)
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NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
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NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
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NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
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NM_019109.5(ALG1):c.710del (p.Leu237fs)
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|
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NM_019109.5(ALG1):c.711_726del (p.Gly238fs)
|
rs756236917
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NM_019109.5(ALG1):c.739del (p.Arg247fs)
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|
|
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
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NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
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NM_019109.5(ALG1):c.786del (p.Glu262fs)
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NM_019109.5(ALG1):c.875del (p.Phe292fs)
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NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
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NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
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NM_019109.5(ALG1):c.91del (p.Ala31fs)
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NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
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NM_019109.5(ALG1):c.969del (p.Pro324fs)
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|
|
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
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|
|
NM_024079.5(ALG8):c.141_144del (p.His48fs)
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NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
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|
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NM_024079.5(ALG8):c.761dup (p.Pro255fs)
|
rs968741434
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NM_024079.5(ALG8):c.802del (p.Arg268fs)
|
rs2136899636
|
|
NM_024079.5(ALG8):c.824del (p.Gly275fs)
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NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)
|
rs794727931
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
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|
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NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
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NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
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|
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NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
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NM_024105.4(ALG12):c.30del (p.Leu12fs)
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NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
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NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
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|
|
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter)
|
rs754565538
|
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NM_024105.4(ALG12):c.522G>A (p.Trp174Ter)
|
rs2146607840
|
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NM_024105.4(ALG12):c.688dup (p.Tyr230fs)
|
rs1569175744
|
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NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
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|
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NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
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|
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NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter)
|
rs2147585338
|
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NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)
|
rs1482361634
|
|
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
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|
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NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
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NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
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NM_024740.2(ALG9):c.992del (p.Met331fs)
|
rs2136936118
|
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NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
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|
|
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
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|
|
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)
|
rs1449400618
|
|
NM_138459.5(NUS1):c.225del (p.Ser76fs)
|
|
|
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
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|
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NM_138459.5(NUS1):c.250dup (p.Arg84fs)
|
|
|
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
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|
|
NM_138459.5(NUS1):c.378del (p.Val127fs)
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|
|
NM_138459.5(NUS1):c.415+2T>G
|
|
|
NM_138459.5(NUS1):c.482del (p.Gly161fs)
|
|
|
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
|
|
|
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
|
|
|
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)
|
rs2114693896
|
|
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)
|
rs1772963498
|
|
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter)
|
rs2114674385
|
|
NM_138459.5(NUS1):c.765_769dup (p.His257fs)
|
rs2114693926
|
|
NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
|
|
|
NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
|
|
|
NM_138459.5(NUS1):c.99dup (p.Asn34fs)
|
rs1582461023
|
|
NM_153741.2(DPM3):c.179del (p.Arg60fs)
|
|
|
NM_153741.2(DPM3):c.205del (p.Asp69fs)
|
|
|
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
|
rs1444066075
|
|
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)
|
rs2102491600
|
|
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)
|
rs749000879
|
|
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
|
|
|
NM_153741.2(DPM3):c.5del (p.Thr2fs)
|
|
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