NM_006721.4(ADK):c.*648C>T
|
rs1189553
|
0.82915
|
NM_006721.4(ADK):c.66-23911C>T
|
rs10824095
|
0.74804
|
NM_000687.3(AHCY):c.-124C>A
|
rs819146
|
0.71726
|
NM_000687.4(AHCY):c.28+1345G>A
|
rs819147
|
0.71293
|
NM_006721.4(ADK):c.878-71T>C
|
rs10740443
|
0.69570
|
NM_000687.4(AHCY):c.973-7C>T
|
rs17091705
|
0.11442
|
NM_000687.4(AHCY):c.767-37C>G
|
rs7271501
|
0.11434
|
NM_000687.4(AHCY):c.*679A>T
|
rs4239
|
0.11416
|
NM_006721.4(ADK):c.705T>C (p.Asp235=)
|
rs16931480
|
0.03126
|
NM_006721.4(ADK):c.727-11T>C
|
rs12778270
|
0.01325
|
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)
|
rs13043752
|
0.01213
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_006721.4(ADK):c.195-18A>G
|
rs144492760
|
0.00844
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
NM_000687.4(AHCY):c.1168-14T>C
|
rs60143059
|
0.00588
|
NM_006721.4(ADK):c.987T>C (p.Ser329=)
|
rs116653664
|
0.00468
|
NM_000687.4(AHCY):c.28+7C>T
|
rs201479827
|
0.00410
|
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg)
|
rs41301825
|
0.00406
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
NM_006721.4(ADK):c.*740C>T
|
rs150465356
|
0.00276
|
NM_006721.4(ADK):c.66-24106T>C
|
rs192064997
|
0.00255
|
NM_000687.4(AHCY):c.744C>T (p.Asn248=)
|
rs150175934
|
0.00210
|
NM_006721.4(ADK):c.*375A>G
|
rs185021662
|
0.00206
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
NM_000687.4(AHCY):c.-63A>G
|
rs58942263
|
0.00108
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
NM_000687.4(AHCY):c.29-16C>T
|
rs150128901
|
0.00052
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
NM_000687.4(AHCY):c.636C>T (p.Ala212=)
|
rs141172613
|
0.00041
|
NM_018960.6(GNMT):c.529C>A (p.His177Asn)
|
rs121907889
|
0.00039
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
NM_000687.4(AHCY):c.1001G>A (p.Arg334His)
|
rs201871637
|
0.00026
|
NM_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
NM_000687.4(AHCY):c.*583G>C
|
rs552690185
|
0.00020
|
NM_000687.4(AHCY):c.471C>T (p.Thr157=)
|
rs192590509
|
0.00019
|
NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)
|
rs150066229
|
0.00018
|
NM_006721.4(ADK):c.*349T>C
|
rs896781492
|
0.00016
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
NM_000687.4(AHCY):c.*181C>T
|
rs759056638
|
0.00010
|
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys)
|
rs145239391
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_000687.4(AHCY):c.698G>A (p.Arg233Gln)
|
rs573146559
|
0.00009
|
NM_000687.4(AHCY):c.769T>C (p.Tyr257His)
|
rs140810436
|
0.00007
|
NM_000687.4(AHCY):c.945C>T (p.Ala315=)
|
rs368716358
|
0.00007
|
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp)
|
rs144383493
|
0.00007
|
NM_000687.4(AHCY):c.29-5C>T
|
rs375669228
|
0.00006
|
NM_000687.4(AHCY):c.663T>C (p.Tyr221=)
|
rs58020044
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
NM_006721.4(ADK):c.66-23966T>C
|
rs886047235
|
0.00006
|
NM_000687.4(AHCY):c.393C>T (p.Asp131=)
|
rs553442034
|
0.00004
|
NM_006721.4(ADK):c.*296G>A
|
rs527621742
|
0.00004
|
NM_000687.4(AHCY):c.*621T>C
|
rs886056634
|
0.00003
|
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)
|
rs773162208
|
0.00003
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
NM_000687.4(AHCY):c.321C>T (p.Asp107=)
|
rs760451324
|
0.00003
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
NM_000687.4(AHCY):c.559-13C>G
|
rs763399683
|
0.00003
|
NM_006721.4(ADK):c.259A>G (p.Ile87Val)
|
rs201734294
|
0.00003
|
NM_000687.4(AHCY):c.-40C>T
|
rs759516966
|
0.00002
|
NM_000687.4(AHCY):c.1168-16C>T
|
rs776065604
|
0.00002
|
NM_000687.4(AHCY):c.266C>T (p.Ala89Val)
|
rs755222515
|
0.00002
|
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu)
|
rs757966746
|
0.00002
|
NM_000687.4(AHCY):c.985C>T (p.Arg329Trp)
|
rs530155117
|
0.00002
|
NM_006721.4(ADK):c.*337T>G
|
rs886047238
|
0.00002
|
NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)
|
rs121907888
|
0.00002
|
NM_000687.4(AHCY):c.*112G>A
|
rs2035978307
|
0.00001
|
NM_000687.4(AHCY):c.*417A>T
|
rs2035968636
|
0.00001
|
NM_000687.4(AHCY):c.*427T>C
|
rs574438360
|
0.00001
|
NM_000687.4(AHCY):c.1015C>T (p.Leu339=)
|
rs373915089
|
0.00001
|
NM_000687.4(AHCY):c.110A>T (p.Glu37Val)
|
rs746513037
|
0.00001
|
NM_000687.4(AHCY):c.1190C>T (p.Ala397Val)
|
rs202122223
|
0.00001
|
NM_000687.4(AHCY):c.1236G>A (p.Lys412=)
|
rs756185456
|
0.00001
|
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)
|
rs369428934
|
0.00001
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
NM_000687.4(AHCY):c.309G>A (p.Lys103=)
|
rs201902693
|
0.00001
|
NM_000687.4(AHCY):c.317C>T (p.Thr106Met)
|
rs910267027
|
0.00001
|
NM_000687.4(AHCY):c.558+13G>T
|
rs2297750
|
0.00001
|
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr)
|
rs754753419
|
0.00001
|
NM_000687.4(AHCY):c.639C>T (p.Gly213=)
|
rs757357954
|
0.00001
|
NM_000687.4(AHCY):c.718A>G (p.Ile240Val)
|
rs747198963
|
0.00001
|
NM_000687.4(AHCY):c.808A>G (p.Asn270Asp)
|
rs756816446
|
0.00001
|
NM_000687.4(AHCY):c.875A>G (p.Asp292Gly)
|
rs1234006772
|
0.00001
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
NM_000687.4(AHCY):c.942C>T (p.Asn314=)
|
rs767550579
|
0.00001
|
NM_006721.4(ADK):c.*114T>C
|
rs560409958
|
0.00001
|
NM_006721.4(ADK):c.*729T>G
|
rs1307744498
|
0.00001
|
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)
|
rs201786575
|
0.00001
|
NM_006721.4(ADK):c.66-24009G>T
|
rs886047234
|
0.00001
|
NM_006721.4(ADK):c.66-24289G>A
|
rs571962706
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_006721.4(ADK):c.763-9T>C
|
rs780824505
|
0.00001
|
NC_000020.10:g.(?_31571600)_(33001705_?)del
|
|
|
NC_000020.10:g.(?_32891029)_(32891076_?)dup
|
|
|
NM_000687.3(AHCY):c.-107G>A
|
rs886056637
|
|
NM_000687.4(AHCY):c.*301T>G
|
rs13245
|
|
NM_000687.4(AHCY):c.*678C>T
|
rs371150068
|
|
NM_000687.4(AHCY):c.-50A>C
|
rs199791897
|
|
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys)
|
rs565486330
|
|
NM_000687.4(AHCY):c.1004G>A (p.Arg335His)
|
|
|
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)
|
rs771507250
|
|
NM_000687.4(AHCY):c.1011C>T (p.Ile337=)
|
|
|
NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly)
|
rs1205008917
|
|
NM_000687.4(AHCY):c.1029G>T (p.Arg343=)
|
|
|
NM_000687.4(AHCY):c.1035C>T (p.Val345=)
|
|
|
NM_000687.4(AHCY):c.1041G>C (p.Leu347=)
|
|
|
NM_000687.4(AHCY):c.104T>C (p.Met35Thr)
|
rs770343325
|
|
NM_000687.4(AHCY):c.1062C>A (p.Pro354=)
|
|
|
NM_000687.4(AHCY):c.1068C>T (p.Phe356=)
|
|
|
NM_000687.4(AHCY):c.106C>T (p.Arg36Trp)
|
|
|
NM_000687.4(AHCY):c.1080C>T (p.Asn360=)
|
|
|
NM_000687.4(AHCY):c.1086C>T (p.Phe362=)
|
|
|
NM_000687.4(AHCY):c.1089C>T (p.Thr363=)
|
|
|
NM_000687.4(AHCY):c.1096G>A (p.Val366Met)
|
|
|
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)
|
|
|
NM_000687.4(AHCY):c.1104G>A (p.Ala368=)
|
|
|
NM_000687.4(AHCY):c.1110C>A (p.Ile370=)
|
|
|
NM_000687.4(AHCY):c.1110C>T (p.Ile370=)
|
|
|
NM_000687.4(AHCY):c.1114C>T (p.Leu372=)
|
|
|
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
|
|
|
NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)
|
|
|
NM_000687.4(AHCY):c.1140C>T (p.Pro380=)
|
|
|
NM_000687.4(AHCY):c.1142T>C (p.Val381Ala)
|
rs759021534
|
|
NM_000687.4(AHCY):c.1160C>T (p.Pro387Leu)
|
|
|
NM_000687.4(AHCY):c.1167+14_1167+16del
|
rs766042035
|
|
NM_000687.4(AHCY):c.1167+15C>A
|
rs1229673205
|
|
NM_000687.4(AHCY):c.1168-6C>A
|
|
|
NM_000687.4(AHCY):c.1168-9T>C
|
rs2122711427
|
|
NM_000687.4(AHCY):c.1170G>A (p.Leu390=)
|
rs886056636
|
|
NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp)
|
rs886056635
|
|
NM_000687.4(AHCY):c.120G>A (p.Ser40=)
|
|
|
NM_000687.4(AHCY):c.1210G>A (p.Val404Met)
|
|
|
NM_000687.4(AHCY):c.1215G>A (p.Lys405=)
|
|
|
NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg)
|
|
|
NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)
|
|
|
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser)
|
rs1194152113
|
|
NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg)
|
|
|
NM_000687.4(AHCY):c.1282G>A (p.Asp428Asn)
|
|
|
NM_000687.4(AHCY):c.1292G>A (p.Arg431His)
|
|
|
NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter)
|
|
|
NM_000687.4(AHCY):c.129G>A (p.Lys43=)
|
|
|
NM_000687.4(AHCY):c.137A>C (p.Lys46Thr)
|
|
|
NM_000687.4(AHCY):c.141C>T (p.Gly47=)
|
|
|
NM_000687.4(AHCY):c.142G>A (p.Ala48Thr)
|
|
|
NM_000687.4(AHCY):c.145del (p.Arg49fs)
|
|
|
NM_000687.4(AHCY):c.150C>T (p.Ile50=)
|
|
|
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
|
|
|
NM_000687.4(AHCY):c.170C>T (p.Thr57Ile)
|
|
|
NM_000687.4(AHCY):c.172G>T (p.Val58Leu)
|
|
|
NM_000687.4(AHCY):c.176A>T (p.Glu59Val)
|
|
|
NM_000687.4(AHCY):c.184G>A (p.Val62Ile)
|
|
|
NM_000687.4(AHCY):c.18C>T (p.Pro6=)
|
rs1601690050
|
|
NM_000687.4(AHCY):c.199C>T (p.Leu67Phe)
|
|
|
NM_000687.4(AHCY):c.201C>T (p.Leu67=)
|
|
|
NM_000687.4(AHCY):c.202G>A (p.Val68Ile)
|
|
|
NM_000687.4(AHCY):c.206C>A (p.Thr69Asn)
|
|
|
NM_000687.4(AHCY):c.219+13G>A
|
|
|
NM_000687.4(AHCY):c.219+15T>C
|
|
|
NM_000687.4(AHCY):c.219+18A>G
|
rs2122783447
|
|
NM_000687.4(AHCY):c.220-4C>G
|
|
|
NM_000687.4(AHCY):c.241A>G (p.Ile81Val)
|
rs2036496036
|
|
NM_000687.4(AHCY):c.255G>A (p.Gln85=)
|
|
|
NM_000687.4(AHCY):c.263C>T (p.Ala88Val)
|
|
|
NM_000687.4(AHCY):c.264G>A (p.Ala88=)
|
|
|
NM_000687.4(AHCY):c.267G>A (p.Ala89=)
|
|
|
NM_000687.4(AHCY):c.273C>T (p.Ala91=)
|
|
|
NM_000687.4(AHCY):c.28+11G>A
|
|
|
NM_000687.4(AHCY):c.28+14C>T
|
|
|
NM_000687.4(AHCY):c.28+15C>G
|
|
|
NM_000687.4(AHCY):c.28+17G>T
|
|
|
NM_000687.4(AHCY):c.28+20del
|
|
|
NM_000687.4(AHCY):c.28+2T>G
|
|
|
NM_000687.4(AHCY):c.29-10C>A
|
|
|
NM_000687.4(AHCY):c.29-15T>C
|
|
|
NM_000687.4(AHCY):c.295+11C>T
|
|
|
NM_000687.4(AHCY):c.296-12C>T
|
|
|
NM_000687.4(AHCY):c.296-13A>G
|
|
|
NM_000687.4(AHCY):c.296-4C>G
|
|
|
NM_000687.4(AHCY):c.297G>A (p.Val99=)
|
|
|
NM_000687.4(AHCY):c.318G>A (p.Thr106=)
|
|
|
NM_000687.4(AHCY):c.322G>A (p.Glu108Lys)
|
|
|
NM_000687.4(AHCY):c.324G>A (p.Glu108=)
|
|
|
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu)
|
|
|
NM_000687.4(AHCY):c.336G>A (p.Trp112Ter)
|
rs121918607
|
|
NM_000687.4(AHCY):c.34A>G (p.Ile12Val)
|
|
|
NM_000687.4(AHCY):c.350C>A (p.Thr117Asn)
|
|
|
NM_000687.4(AHCY):c.366C>G (p.Asp122Glu)
|
rs141935523
|
|
NM_000687.4(AHCY):c.366C>T (p.Asp122=)
|
|
|
NM_000687.4(AHCY):c.36C>T (p.Ile12=)
|
|
|
NM_000687.4(AHCY):c.373C>G (p.Leu125Val)
|
|
|
NM_000687.4(AHCY):c.373del (p.Leu125fs)
|
|
|
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)
|
|
|
NM_000687.4(AHCY):c.399C>T (p.Gly133=)
|
|
|
NM_000687.4(AHCY):c.39C>T (p.Gly13=)
|
|
|
NM_000687.4(AHCY):c.420C>T (p.His140=)
|
|
|
NM_000687.4(AHCY):c.432G>A (p.Pro144=)
|
|
|
NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)
|
|
|
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu)
|
|
|
NM_000687.4(AHCY):c.445+11C>A
|
|
|
NM_000687.4(AHCY):c.445+12G>A
|
|
|
NM_000687.4(AHCY):c.445+17A>G
|
|
|
NM_000687.4(AHCY):c.446-13C>G
|
|
|
NM_000687.4(AHCY):c.446-17T>C
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NM_000687.4(AHCY):c.453A>T (p.Arg151=)
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NM_000687.4(AHCY):c.457A>G (p.Ile153Val)
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|
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NM_000687.4(AHCY):c.468G>C (p.Glu156Asp)
|
rs1568799740
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NM_000687.4(AHCY):c.46G>C (p.Ala16Pro)
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NM_000687.4(AHCY):c.474G>A (p.Thr158=)
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NM_000687.4(AHCY):c.475A>G (p.Thr159Ala)
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NM_000687.4(AHCY):c.526C>T (p.Pro176Ser)
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|
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NM_000687.4(AHCY):c.546C>T (p.Asp182=)
|
rs1363332391
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NM_000687.4(AHCY):c.549C>T (p.Ser183=)
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NM_000687.4(AHCY):c.552C>T (p.Val184=)
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NM_000687.4(AHCY):c.558+1_558+2delinsCG
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NM_000687.4(AHCY):c.558+20C>T
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NM_000687.4(AHCY):c.558+4_558+27del
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NM_000687.4(AHCY):c.559-13_559-12dup
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NM_000687.4(AHCY):c.559-5T>C
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NM_000687.4(AHCY):c.570C>T (p.Asp190=)
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NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys)
|
rs772905203
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NM_000687.4(AHCY):c.586C>T (p.Arg196Trp)
|
rs2122760447
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NM_000687.4(AHCY):c.5C>A (p.Ser2Tyr)
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NM_000687.4(AHCY):c.63C>T (p.Ala21=)
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NM_000687.4(AHCY):c.647C>T (p.Ala216Val)
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NM_000687.4(AHCY):c.648G>A (p.Ala216=)
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NM_000687.4(AHCY):c.648G>C (p.Ala216=)
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NM_000687.4(AHCY):c.649G>A (p.Val217Met)
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NM_000687.4(AHCY):c.64C>T (p.Leu22=)
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NM_000687.4(AHCY):c.659G>T (p.Gly220Val)
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NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys)
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NM_000687.4(AHCY):c.67G>C (p.Asp23His)
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NM_000687.4(AHCY):c.685G>A (p.Ala229Thr)
|
rs767066341
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NM_000687.4(AHCY):c.690G>A (p.Gln230=)
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NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
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NM_000687.4(AHCY):c.6del (p.Asp3fs)
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NM_000687.4(AHCY):c.705C>T (p.Phe235=)
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NM_000687.4(AHCY):c.70A>G (p.Ile24Val)
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NM_000687.4(AHCY):c.712C>T (p.Arg238Cys)
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NM_000687.4(AHCY):c.714C>T (p.Arg238=)
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NM_000687.4(AHCY):c.715G>A (p.Val239Ile)
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NM_000687.4(AHCY):c.720C>T (p.Ile240=)
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NM_000687.4(AHCY):c.72T>C (p.Ile24=)
|
rs1331815162
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NM_000687.4(AHCY):c.731T>C (p.Ile244Thr)
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NM_000687.4(AHCY):c.763del (p.Glu255fs)
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NM_000687.4(AHCY):c.766+13A>G
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NM_000687.4(AHCY):c.766+14A>G
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NM_000687.4(AHCY):c.766+20G>A
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NM_000687.4(AHCY):c.766+2T>G
|
rs1348839036
|
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NM_000687.4(AHCY):c.766+7T>C
|
|
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NM_000687.4(AHCY):c.767-8_767-7del
|
rs61664915
|
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NM_000687.4(AHCY):c.773A>C (p.Glu258Ala)
|
|
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NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)
|
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NM_000687.4(AHCY):c.793G>A (p.Ala265Thr)
|
|
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NM_000687.4(AHCY):c.802G>A (p.Glu268Lys)
|
rs2122758097
|
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NM_000687.4(AHCY):c.816T>C (p.Phe272=)
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NM_000687.4(AHCY):c.81C>T (p.Asn27=)
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NM_000687.4(AHCY):c.822C>T (p.Thr274=)
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NM_000687.4(AHCY):c.825C>T (p.Thr275=)
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NM_000687.4(AHCY):c.82G>A (p.Glu28Lys)
|
|
|
NM_000687.4(AHCY):c.831C>G (p.Gly277=)
|
rs764906515
|
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NM_000687.4(AHCY):c.841A>G (p.Ile281Val)
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NM_000687.4(AHCY):c.854+14G>T
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NM_000687.4(AHCY):c.854+17G>A
|
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NM_000687.4(AHCY):c.854+18G>A
|
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NM_000687.4(AHCY):c.854+19dup
|
rs753303222
|
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NM_000687.4(AHCY):c.854G>A (p.Arg285Gln)
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NM_000687.4(AHCY):c.855-9G>C
|
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NM_000687.4(AHCY):c.864G>A (p.Glu288=)
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NM_000687.4(AHCY):c.882C>T (p.Ala294=)
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NM_000687.4(AHCY):c.882del (p.Ile295fs)
|
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NM_000687.4(AHCY):c.883A>G (p.Ile295Val)
|
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NM_000687.4(AHCY):c.90G>A (p.Pro30=)
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NM_000687.4(AHCY):c.90G>C (p.Pro30=)
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NM_000687.4(AHCY):c.910G>A (p.Val304Met)
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NM_000687.4(AHCY):c.910G>T (p.Val304Leu)
|
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NM_000687.4(AHCY):c.924C>G (p.Val308=)
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NM_000687.4(AHCY):c.937G>A (p.Glu313Lys)
|
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NM_000687.4(AHCY):c.943G>A (p.Ala315Thr)
|
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NM_000687.4(AHCY):c.943G>T (p.Ala315Ser)
|
|
|
NM_000687.4(AHCY):c.946G>A (p.Val316Met)
|
|
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NM_000687.4(AHCY):c.954G>A (p.Lys318=)
|
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NM_000687.4(AHCY):c.963C>A (p.Ile321=)
|
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NM_000687.4(AHCY):c.963C>T (p.Ile321=)
|
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NM_000687.4(AHCY):c.969G>A (p.Pro323=)
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NM_000687.4(AHCY):c.972+13C>T
|
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NM_000687.4(AHCY):c.972+14G>A
|
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NM_000687.4(AHCY):c.972+1G>A
|
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NM_000687.4(AHCY):c.972+8G>T
|
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NM_000687.4(AHCY):c.973-10C>T
|
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NM_000687.4(AHCY):c.973-17G>C
|
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NM_000687.4(AHCY):c.973-17G>T
|
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NM_000687.4(AHCY):c.973-6G>A
|
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NM_000687.4(AHCY):c.973-6G>C
|
|
|
NM_000687.4(AHCY):c.97A>G (p.Met33Val)
|
rs1555835400
|
|
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)
|
|
|
NM_000687.4(AHCY):c.981G>A (p.Arg327=)
|
rs1338041155
|
|
NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)
|
|
|
NM_000687.4(AHCY):c.987G>A (p.Arg329=)
|
|
|
NM_006721.4(ADK):c.*157G>A
|
rs886047237
|
|
NM_006721.4(ADK):c.-10_4del (p.Met1fs)
|
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.2T>C (p.Met1Thr)
|
|
|
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
|
|
|
NM_006721.4(ADK):c.441C>T (p.Asp147=)
|
rs886047236
|
|
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)
|
rs1219524919
|
|
NM_006721.4(ADK):c.569_570del (p.Thr190fs)
|
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
NM_006721.4(ADK):c.66-23876T>A
|
|
|
NM_006721.4(ADK):c.66-23967G>T
|
rs1842356778
|
|
NM_006721.4(ADK):c.66-24083G>C
|
rs886047233
|
|
NM_006721.4(ADK):c.66-24133G>A
|
rs1036870011
|
|
NM_006721.4(ADK):c.66-24151A>T
|
rs886047232
|
|
NM_006721.4(ADK):c.704A>C (p.Asp235Ala)
|
rs397514453
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006721.4(ADK):c.79T>C (p.Phe27Leu)
|
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)
|
rs397514454
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)
|
rs397514452
|
|
NM_018960.6(GNMT):c.422A>G (p.Asn141Ser)
|
rs864321678
|
|
NM_018960.6(GNMT):c.452-2_467delinsTGGTCC
|
|
|