NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
0.00059
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_001082486.2(ACD):c.46C>A (p.Leu16Met)
|
rs200365807
|
0.00044
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His)
|
rs143568469
|
0.00031
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)
|
rs570605098
|
0.00026
|
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val)
|
rs140103426
|
0.00026
|
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr)
|
rs200178501
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)
|
rs144507279
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)
|
rs28381069
|
0.00022
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro)
|
rs140411676
|
0.00020
|
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)
|
rs202133913
|
0.00019
|
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)
|
rs141081316
|
0.00018
|
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln)
|
rs146482651
|
0.00018
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met)
|
rs769393520
|
0.00017
|
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
|
rs151298198
|
0.00016
|
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)
|
rs888502576
|
0.00016
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly)
|
rs377047502
|
0.00015
|
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)
|
rs150078051
|
0.00014
|
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp)
|
rs373128067
|
0.00014
|
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val)
|
rs376516473
|
0.00014
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)
|
rs149728983
|
0.00013
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg)
|
rs141231095
|
0.00012
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn)
|
rs143081480
|
0.00011
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
|
rs576982977
|
0.00010
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
|
rs200293827
|
0.00010
|
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)
|
rs763310916
|
0.00010
|
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)
|
rs780308423
|
0.00010
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val)
|
rs142747676
|
0.00010
|
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys)
|
rs368157267
|
0.00010
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
|
rs370512338
|
0.00009
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys)
|
rs200850741
|
0.00009
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn)
|
rs200392246
|
0.00009
|
NM_001082486.2(ACD):c.-24C>T
|
rs770445581
|
0.00008
|
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)
|
rs775607009
|
0.00008
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His)
|
rs201531496
|
0.00008
|
NM_005027.4(PIK3R2):c.1290+4C>T
|
rs376614345
|
0.00008
|
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile)
|
rs201493612
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp)
|
rs777030988
|
0.00008
|
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn)
|
rs370614998
|
0.00008
|
NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)
|
rs373599521
|
0.00007
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met)
|
rs749833212
|
0.00006
|
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser)
|
rs764032802
|
0.00006
|
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln)
|
rs143736463
|
0.00006
|
NM_002449.5(MSX2):c.286G>T (p.Val96Leu)
|
rs769329948
|
0.00006
|
NM_002449.5(MSX2):c.95A>T (p.Glu32Val)
|
rs780593593
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn)
|
rs1208639269
|
0.00006
|
NM_005465.7(AKT3):c.820-10T>G
|
rs370193515
|
0.00006
|
NM_014846.4(WASHC5):c.1550A>G (p.Asn517Ser)
|
rs368546546
|
0.00006
|
NM_014846.4(WASHC5):c.2850+4T>C
|
rs770743674
|
0.00006
|
NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr)
|
rs142883794
|
0.00006
|
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)
|
rs151123934
|
0.00006
|
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
|
rs780304630
|
0.00006
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)
|
rs764178255
|
0.00006
|
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala)
|
rs200134441
|
0.00006
|
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln)
|
rs201436658
|
0.00006
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
NM_001082486.2(ACD):c.100-7C>G
|
rs774058030
|
0.00005
|
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)
|
rs553014261
|
0.00005
|
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
|
rs531580930
|
0.00005
|
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)
|
rs374742891
|
0.00005
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met)
|
rs374249741
|
0.00005
|
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His)
|
rs138073893
|
0.00005
|
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)
|
rs147463318
|
0.00005
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val)
|
rs768075445
|
0.00005
|
NM_005465.7(AKT3):c.1202G>A (p.Arg401Lys)
|
rs771494754
|
0.00005
|
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys)
|
rs202015963
|
0.00005
|
NM_015631.6(TCTN3):c.488A>G (p.His163Arg)
|
rs376756059
|
0.00005
|
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)
|
rs745506522
|
0.00005
|
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)
|
rs764405866
|
0.00005
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
|
rs374042611
|
0.00004
|
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
|
rs200892635
|
0.00004
|
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val)
|
rs374399278
|
0.00004
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr)
|
rs373593390
|
0.00004
|
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)
|
rs778255016
|
0.00004
|
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys)
|
rs781239912
|
0.00004
|
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
|
rs776468683
|
0.00004
|
NM_001082486.2(ACD):c.944C>A (p.Pro315His)
|
rs147306863
|
0.00004
|
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu)
|
rs763257527
|
0.00004
|
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val)
|
rs1349754803
|
0.00004
|
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys)
|
rs776751502
|
0.00004
|
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val)
|
rs145441666
|
0.00004
|
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile)
|
rs200508580
|
0.00004
|
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys)
|
rs1022260890
|
0.00004
|
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp)
|
rs752430880
|
0.00004
|
NM_005465.7(AKT3):c.16A>G (p.Ile6Val)
|
rs750279631
|
0.00004
|
NM_014846.4(WASHC5):c.1576G>A (p.Asp526Asn)
|
rs766834356
|
0.00004
|
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)
|
rs749703625
|
0.00004
|
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala)
|
rs553869211
|
0.00004
|
NM_014846.4(WASHC5):c.2716C>G (p.Gln906Glu)
|
rs757250722
|
0.00004
|
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)
|
rs367744328
|
0.00004
|
NM_014846.4(WASHC5):c.3103C>T (p.Arg1035Cys)
|
rs758843087
|
0.00004
|
NM_014846.4(WASHC5):c.439G>A (p.Gly147Arg)
|
rs979115163
|
0.00004
|
NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr)
|
rs1218811554
|
0.00004
|
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)
|
rs755942179
|
0.00004
|
NM_015631.6(TCTN3):c.1590+4A>T
|
rs756071891
|
0.00004
|
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)
|
rs143758863
|
0.00004
|
NM_015631.6(TCTN3):c.627+6C>T
|
rs190843846
|
0.00004
|
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)
|
rs763118625
|
0.00004
|
NM_016464.5(TMEM138):c.377-3C>T
|
rs774110963
|
0.00004
|
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly)
|
rs1199130382
|
0.00004
|
NM_022914.2(ACD):c.116G>A (p.Arg39His)
|
rs199612237
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
|
rs972949531
|
0.00003
|
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
|
rs771350638
|
0.00003
|
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
|
rs772074875
|
0.00003
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
NM_001044385.3(TMEM237):c.869+4A>G
|
rs771107990
|
0.00003
|
NM_001077418.2(TMEM231):c.-46G>A
|
rs752769188
|
0.00003
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
0.00003
|
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)
|
rs753367228
|
0.00003
|
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
|
rs200526158
|
0.00003
|
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)
|
rs781117606
|
0.00003
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser)
|
rs758700674
|
0.00003
|
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)
|
rs1300291520
|
0.00003
|
NM_001368809.2(AMPD2):c.-149G>A
|
rs773946980
|
0.00003
|
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)
|
rs149171366
|
0.00003
|
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr)
|
rs374652371
|
0.00003
|
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys)
|
rs146798795
|
0.00003
|
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)
|
rs754712604
|
0.00003
|
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu)
|
rs746845817
|
0.00003
|
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln)
|
rs753757082
|
0.00003
|
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys)
|
rs555293970
|
0.00003
|
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser)
|
rs776218196
|
0.00003
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu)
|
rs929809973
|
0.00003
|
NM_014846.4(WASHC5):c.1094G>C (p.Cys365Ser)
|
rs756457820
|
0.00003
|
NM_014846.4(WASHC5):c.1642A>G (p.Met548Val)
|
rs138176168
|
0.00003
|
NM_014846.4(WASHC5):c.2426C>G (p.Pro809Arg)
|
rs747787888
|
0.00003
|
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)
|
rs762522662
|
0.00003
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
NM_015631.6(TCTN3):c.178G>A (p.Val60Met)
|
rs557962090
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)
|
rs755251825
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)
|
rs750788154
|
0.00003
|
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala)
|
rs367553852
|
0.00003
|
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met)
|
rs375759945
|
0.00003
|
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg)
|
rs770223898
|
0.00003
|
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser)
|
rs757797519
|
0.00003
|
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)
|
rs749431578
|
0.00003
|
NM_001044385.3(TMEM237):c.137-3T>C
|
rs540193518
|
0.00002
|
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
|
rs1269827788
|
0.00002
|
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser)
|
rs372581479
|
0.00002
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
0.00002
|
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)
|
rs752006255
|
0.00002
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
NM_001082486.2(ACD):c.1211C>A (p.Pro404His)
|
rs201907421
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)
|
rs773274371
|
0.00002
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
NM_001082486.2(ACD):c.545dup (p.Ala184fs)
|
rs1567641214
|
0.00002
|
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
|
rs1181866888
|
0.00002
|
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)
|
rs777476880
|
0.00002
|
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
|
rs780951085
|
0.00002
|
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
|
rs1006777863
|
0.00002
|
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)
|
rs770051774
|
0.00002
|
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu)
|
rs780742359
|
0.00002
|
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe)
|
rs766037337
|
0.00002
|
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys)
|
rs769550203
|
0.00002
|
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr)
|
rs747438024
|
0.00002
|
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu)
|
rs748759724
|
0.00002
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu)
|
rs754971694
|
0.00002
|
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His)
|
rs566152147
|
0.00002
|
NM_005465.7(AKT3):c.882A>G (p.Lys294=)
|
rs766767139
|
0.00002
|
NM_014846.4(WASHC5):c.1210C>T (p.Arg404Trp)
|
rs758878691
|
0.00002
|
NM_014846.4(WASHC5):c.1589T>C (p.Phe530Ser)
|
rs184557946
|
0.00002
|
NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr)
|
rs199936194
|
0.00002
|
NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr)
|
rs761053851
|
0.00002
|
NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg)
|
rs202184316
|
0.00002
|
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys)
|
rs565980279
|
0.00002
|
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)
|
rs750698768
|
0.00002
|
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)
|
rs765375312
|
0.00002
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu)
|
rs1399269953
|
0.00002
|
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His)
|
rs754607949
|
0.00002
|
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn)
|
rs1190331074
|
0.00002
|
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)
|
rs1290852650
|
0.00002
|
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val)
|
rs759598264
|
0.00002
|
NM_015631.6(TCTN3):c.499+5G>T
|
rs1242330719
|
0.00002
|
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser)
|
rs541135431
|
0.00002
|
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys)
|
rs1176554738
|
0.00002
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
0.00002
|
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu)
|
rs527254164
|
0.00002
|
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala)
|
rs777529403
|
0.00002
|
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu)
|
rs780781288
|
0.00002
|
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)
|
rs745340882
|
0.00002
|
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly)
|
rs764770290
|
0.00002
|
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter)
|
rs150374247
|
0.00002
|
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg)
|
rs755456896
|
0.00002
|
NC_000016.10:g.67660316G>T
|
rs774922687
|
0.00001
|
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
|
rs1559590115
|
0.00001
|
NM_001044385.3(TMEM237):c.1038-6T>G
|
rs758523904
|
0.00001
|
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp)
|
rs747158935
|
0.00001
|
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val)
|
rs1437714395
|
0.00001
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
|
rs1186656902
|
0.00001
|
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
|
rs759392151
|
0.00001
|
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
|
rs772680401
|
0.00001
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
|
rs184256195
|
0.00001
|
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
|
rs771052304
|
0.00001
|
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys)
|
rs762678333
|
0.00001
|
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=)
|
rs754056989
|
0.00001
|
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His)
|
rs186216206
|
0.00001
|
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro)
|
rs373956551
|
0.00001
|
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
|
rs773685442
|
0.00001
|
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg)
|
rs749330370
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=)
|
rs370681829
|
0.00001
|
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser)
|
rs769694232
|
0.00001
|
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
|
rs759814109
|
0.00001
|
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met)
|
rs886055448
|
0.00001
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
|
rs1209527419
|
0.00001
|
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
|
rs745540263
|
0.00001
|
NM_001044385.3(TMEM237):c.943+5G>A
|
rs779322966
|
0.00001
|
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
|
rs576586379
|
0.00001
|
NM_001077418.2(TMEM231):c.-44C>A
|
rs1419518232
|
0.00001
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
0.00001
|
NM_001082486.1(ACD):c.107G>A (p.Gly36Glu)
|
rs527307806
|
0.00001
|
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)
|
rs755584473
|
0.00001
|
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)
|
rs1396620065
|
0.00001
|
NM_001082486.1(ACD):c.131G>T (p.Gly44Val)
|
rs756883228
|
0.00001
|
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu)
|
rs765105630
|
0.00001
|
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)
|
rs760222002
|
0.00001
|
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr)
|
rs781229512
|
0.00001
|
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala)
|
rs949049586
|
0.00001
|
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)
|
rs776842448
|
0.00001
|
NM_001082486.2(ACD):c.-20C>T
|
rs148124985
|
0.00001
|
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)
|
rs368783801
|
0.00001
|
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)
|
rs745338439
|
0.00001
|
NM_001082486.2(ACD):c.1046del (p.Ser349fs)
|
rs1291433639
|
0.00001
|
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)
|
rs370293582
|
0.00001
|
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
|
rs757414908
|
0.00001
|
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser)
|
rs996525402
|
0.00001
|
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)
|
rs772867895
|
0.00001
|
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)
|
rs747913250
|
0.00001
|
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter)
|
rs761750721
|
0.00001
|
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)
|
rs779041176
|
0.00001
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg)
|
rs149418249
|
0.00001
|
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)
|
rs775323156
|
0.00001
|
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)
|
rs1397584716
|
0.00001
|
NM_001082486.2(ACD):c.170C>T (p.Thr57Met)
|
rs1383980242
|
0.00001
|
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe)
|
rs368387402
|
0.00001
|
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
|
rs775602659
|
0.00001
|
NM_001082486.2(ACD):c.494-3C>G
|
rs1173572864
|
0.00001
|
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
|
rs1435126124
|
0.00001
|
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile)
|
rs144087853
|
0.00001
|
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
|
rs780160617
|
0.00001
|
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu)
|
rs1445067662
|
0.00001
|
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter)
|
rs1339068886
|
0.00001
|
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln)
|
rs146270351
|
0.00001
|
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
|
rs72547495
|
0.00001
|
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
|
rs571116752
|
0.00001
|
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)
|
rs1039048796
|
0.00001
|
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)
|
rs748280747
|
0.00001
|
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)
|
rs752793753
|
0.00001
|
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)
|
rs139256582
|
0.00001
|
NM_001082486.2(ACD):c.742+4A>G
|
rs1380521995
|
0.00001
|
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
|
rs754631809
|
0.00001
|
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
|
rs760404492
|
0.00001
|
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
|
rs1035052101
|
0.00001
|
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)
|
rs1370466465
|
0.00001
|
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly)
|
rs779705657
|
0.00001
|
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)
|
rs754815475
|
0.00001
|
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)
|
rs200298308
|
0.00001
|
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)
|
rs760978454
|
0.00001
|
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn)
|
rs748834837
|
0.00001
|
NM_001082486.2(ACD):c.99+3G>A
|
rs1189416936
|
0.00001
|
NM_001368809.2(AMPD2):c.-161T>G
|
rs769851350
|
0.00001
|
NM_001368809.2(AMPD2):c.-18G>T
|
rs772899120
|
0.00001
|
NM_001368809.2(AMPD2):c.-38G>A
|
rs1650212785
|
0.00001
|
NM_001368809.2(AMPD2):c.-75G>T
|
rs1025210705
|
0.00001
|
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)
|
rs749918422
|
0.00001
|
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)
|
rs751131036
|
0.00001
|
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln)
|
rs771577116
|
0.00001
|
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His)
|
rs772541636
|
0.00001
|
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser)
|
rs370528133
|
0.00001
|
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg)
|
rs539379857
|
0.00001
|
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)
|
rs761542502
|
0.00001
|
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys)
|
rs1253216358
|
0.00001
|
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His)
|
rs1308492888
|
0.00001
|
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp)
|
rs745350160
|
0.00001
|
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=)
|
rs1399925815
|
0.00001
|
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His)
|
rs200750655
|
0.00001
|
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys)
|
rs575582124
|
0.00001
|
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu)
|
rs567095077
|
0.00001
|
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr)
|
rs748621330
|
0.00001
|
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu)
|
rs768283469
|
0.00001
|
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys)
|
rs1255257133
|
0.00001
|
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val)
|
rs771408289
|
0.00001
|
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)
|
rs776868175
|
0.00001
|
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val)
|
rs969126655
|
0.00001
|
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln)
|
rs1353231469
|
0.00001
|
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln)
|
rs751060486
|
0.00001
|
NM_002449.5(MSX2):c.698C>T (p.Ala233Val)
|
rs138053303
|
0.00001
|
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu)
|
rs745950729
|
0.00001
|
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu)
|
rs1361478485
|
0.00001
|
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala)
|
rs1448692172
|
0.00001
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr)
|
rs368358984
|
0.00001
|
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg)
|
rs750258489
|
0.00001
|
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His)
|
rs2043808995
|
0.00001
|
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys)
|
rs765672206
|
0.00001
|
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln)
|
rs200781840
|
0.00001
|
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val)
|
rs772782368
|
0.00001
|
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro)
|
rs920139065
|
0.00001
|
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val)
|
rs1016301486
|
0.00001
|
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln)
|
rs754693011
|
0.00001
|
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp)
|
rs770193876
|
0.00001
|
NM_005465.7(AKT3):c.1275A>G (p.Gln425=)
|
rs143949494
|
0.00001
|
NM_005465.7(AKT3):c.409A>G (p.Thr137Ala)
|
rs1351256745
|
0.00001
|
NM_005465.7(AKT3):c.410C>T (p.Thr137Ile)
|
rs202064755
|
0.00001
|
NM_014846.4(WASHC5):c.1211G>A (p.Arg404Gln)
|
rs753133551
|
0.00001
|
NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg)
|
rs1328488239
|
0.00001
|
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)
|
rs766713240
|
0.00001
|
NM_014846.4(WASHC5):c.1408+4A>C
|
rs780340651
|
0.00001
|
NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg)
|
rs1357562835
|
0.00001
|
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)
|
rs751591590
|
0.00001
|
NM_014846.4(WASHC5):c.2032C>T (p.His678Tyr)
|
rs1403229183
|
0.00001
|
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser)
|
rs1289915533
|
0.00001
|
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)
|
rs545318648
|
0.00001
|
NM_014846.4(WASHC5):c.2846T>C (p.Met949Thr)
|
rs1182525812
|
0.00001
|
NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)
|
rs761500521
|
0.00001
|
NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)
|
rs775752911
|
0.00001
|
NM_014846.4(WASHC5):c.3121A>G (p.Ile1041Val)
|
rs1184928685
|
0.00001
|
NM_014846.4(WASHC5):c.3145G>A (p.Ala1049Thr)
|
rs375664674
|
0.00001
|
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)
|
rs765982075
|
0.00001
|
NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser)
|
rs1019440298
|
0.00001
|
NM_014846.4(WASHC5):c.864+5G>C
|
rs772529893
|
0.00001
|
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn)
|
rs753529606
|
0.00001
|
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His)
|
rs1267547707
|
0.00001
|
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala)
|
rs768480385
|
0.00001
|
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)
|
rs745968146
|
0.00001
|
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe)
|
rs931265396
|
0.00001
|
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
|
rs768285987
|
0.00001
|
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln)
|
rs1314333060
|
0.00001
|
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg)
|
rs1194762228
|
0.00001
|
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)
|
rs200705429
|
0.00001
|
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val)
|
rs142986132
|
0.00001
|
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg)
|
rs773447066
|
0.00001
|
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser)
|
rs775556315
|
0.00001
|
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser)
|
rs2097942068
|
0.00001
|
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser)
|
rs1273735180
|
0.00001
|
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile)
|
rs767733835
|
0.00001
|
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)
|
rs756561177
|
0.00001
|
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter)
|
rs771745084
|
0.00001
|
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)
|
rs747933488
|
0.00001
|
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)
|
rs891059654
|
0.00001
|
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)
|
rs768523448
|
0.00001
|
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)
|
rs746968875
|
0.00001
|
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)
|
rs999127884
|
0.00001
|
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)
|
rs1391185443
|
0.00001
|
NM_015631.6(TCTN3):c.381-3C>T
|
rs546476903
|
0.00001
|
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
|
rs777642622
|
0.00001
|
NM_015631.6(TCTN3):c.627G>A (p.Arg209=)
|
rs752918067
|
0.00001
|
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala)
|
rs780438906
|
0.00001
|
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
|
rs762720849
|
0.00001
|
NM_015631.6(TCTN3):c.879G>C (p.Gln293His)
|
rs147928670
|
0.00001
|
NM_015631.6(TCTN3):c.883A>G (p.Met295Val)
|
rs746046233
|
0.00001
|
NM_015631.6(TCTN3):c.894G>C (p.Gln298His)
|
rs1464905299
|
0.00001
|
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys)
|
rs971089853
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)
|
rs766349558
|
0.00001
|
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)
|
rs767361822
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)
|
rs934639615
|
0.00001
|
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=)
|
rs759682384
|
0.00001
|
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp)
|
rs758926583
|
0.00001
|
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)
|
rs774397708
|
0.00001
|
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val)
|
rs781509316
|
0.00001
|
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg)
|
rs748342283
|
0.00001
|
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)
|
rs770692934
|
0.00001
|
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg)
|
rs1439653012
|
0.00001
|
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe)
|
rs758475213
|
0.00001
|
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg)
|
rs375674908
|
0.00001
|
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln)
|
rs1401066315
|
0.00001
|
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met)
|
rs745991382
|
0.00001
|
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val)
|
rs1478635543
|
0.00001
|
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)
|
rs921843370
|
0.00001
|
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln)
|
rs1216262296
|
0.00001
|
NC_000001.10:g.(?_110145976)_(110173774_?)dup
|
|
|
NC_000001.10:g.(?_243663038)_(243668656_?)dup
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
NC_000002.11:g.(?_231033840)_(234978657_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)del
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232603918_?)dup
|
|
|
NC_000005.9:g.(?_174151663)_(174156586_?)dup
|
|
|
NC_000008.10:g.(?_126036859)_(126379127_?)dup
|
|
|
NC_000008.10:g.(?_126049459)_(126075913_?)del
|
|
|
NC_000008.11:g.(?_125024607)_(125044104_?)del
|
|
|
NC_000010.10:g.(?_97440209)_(97440386_?)del
|
|
|
NC_000010.10:g.(?_97442388)_(97516032_?)dup
|
|
|
NC_000016.10:g.67660263_67660288del
|
|
|
NC_000016.10:g.67660263_67660288dup
|
rs1339425052
|
|
NC_000016.10:g.67660277C>G
|
rs776666988
|
|
NC_000016.10:g.67660292_67660309del
|
rs1185708088
|
|
NC_000016.10:g.67660300del
|
rs2142976499
|
|
NC_000016.10:g.67660322_67660356del
|
rs2142976594
|
|
NC_000016.10:g.67660324AGG[2]
|
rs1198905942
|
|
NC_000016.10:g.67660332_67660346dup
|
rs2142976632
|
|
NC_000016.10:g.67660358G>A
|
rs1347436636
|
|
NC_000016.10:g.67660400C>G
|
rs2052987449
|
|
NC_000016.10:g.67660407C>T
|
rs745972649
|
|
NC_000016.10:g.67660407_67660419dup
|
rs757084527
|
|
NC_000016.10:g.67660478T>C
|
rs1308323945
|
|
NC_000016.9:g.(?_65821800)_(72146396_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
NC_000019.10:g.(?_18167110)_(18169314_?)dup
|
|
|
NC_000019.9:g.(?_17927663)_(19312528_?)dup
|
|
|
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
|
|
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
|
|
|
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu)
|
rs1957756642
|
|
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
|
rs138509553
|
|
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
|
rs1957756375
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
|
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
|
|
|
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
|
|
|
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn)
|
rs1362249907
|
|
NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs)
|
rs763176756
|
|
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
|
rs1957737864
|
|
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])
|
rs765428296
|
|
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
|
rs761770686
|
|
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
|
|
|
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His)
|
rs768568104
|
|
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
|
rs999613520
|
|
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
|
|
|
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser)
|
rs376226585
|
|
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val)
|
rs1369476710
|
|
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
|
rs367728637
|
|
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)
|
rs778373105
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
|
|
|
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
|
|
|
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
|
rs1324625933
|
|
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
|
|
|
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
|
|
|
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
|
|
|
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
|
rs1687222402
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
|
|
|
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
|
rs1553660992
|
|
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
|
|
|
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
|
|
|
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr)
|
rs2105900828
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met)
|
rs2105900253
|
|
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser)
|
rs772074875
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
|
|
|
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu)
|
rs1202199961
|
|
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
|
|
|
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
|
rs767769973
|
|
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe)
|
rs2105899190
|
|
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu)
|
rs769861092
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys)
|
rs2105898977
|
|
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro)
|
rs992818026
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
|
|
|
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)
|
rs1015591586
|
|
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr)
|
rs1343901400
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
|
|
|
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly)
|
rs2105898418
|
|
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg)
|
rs1380123430
|
|
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro)
|
rs2105898403
|
|
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp)
|
rs1043186259
|
|
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val)
|
rs2105898068
|
|
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
|
rs1957768968
|
|
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
|
|
|
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg)
|
rs1057148787
|
|
NM_001077418.2(TMEM231):c.-53A>G
|
rs1176007249
|
|
NM_001077418.2(TMEM231):c.-55C>T
|
rs2151711350
|
|
NM_001077418.2(TMEM231):c.-59G>A
|
|
|
NM_001077418.2(TMEM231):c.-61T>G
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
|
|
|
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)
|
rs772377460
|
|
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg)
|
rs1452825225
|
|
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys)
|
rs748543340
|
|
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
|
|
|
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
|
|
|
NM_001082486.1(ACD):c.119C>T (p.Ala40Val)
|
rs374417270
|
|
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
|
|
|
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln)
|
rs767099534
|
|
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
|
|
|
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp)
|
rs773291286
|
|
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
|
|
|
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
|
|
|
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser)
|
rs2142976460
|
|
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
|
|
|
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr)
|
rs763682845
|
|
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
|
|
|
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
|
|
|
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
|
|
|
NM_001082486.1(ACD):c.37G>A (p.Val13Ile)
|
rs781424953
|
|
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
|
|
|
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
|
|
|
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
|
|
|
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser)
|
rs1237579301
|
|
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
|
|
|
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
|
|
|
NM_001082486.1(ACD):c.88C>T (p.His30Tyr)
|
rs376813282
|
|
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg)
|
rs761628896
|
|
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys)
|
rs761628896
|
|
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp)
|
rs774085628
|
|
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
|
|
|
NM_001082486.2(ACD):c.-14G>T
|
|
|
NM_001082486.2(ACD):c.-23A>T
|
rs746445437
|
|
NM_001082486.2(ACD):c.-26T>G
|
|
|
NM_001082486.2(ACD):c.-29C>A
|
|
|
NM_001082486.2(ACD):c.-29C>G
|
rs534010648
|
|
NM_001082486.2(ACD):c.-29C>T
|
|
|
NM_001082486.2(ACD):c.-30C>T
|
|
|
NM_001082486.2(ACD):c.-36C>A
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>G
|
rs762184098
|
|
NM_001082486.2(ACD):c.-36C>T
|
|
|
NM_001082486.2(ACD):c.-38A>T
|
|
|
NM_001082486.2(ACD):c.-8C>G
|
rs766360608
|
|
NM_001082486.2(ACD):c.-8C>T
|
rs766360608
|
|
NM_001082486.2(ACD):c.-9G>A
|
|
|
NM_001082486.2(ACD):c.-9G>C
|
rs377247506
|
|
NM_001082486.2(ACD):c.-9G>T
|
rs377247506
|
|
NM_001082486.2(ACD):c.100-1G>A
|
|
|
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys)
|
rs762262197
|
|
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
|
|
|
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
|
|
|
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter)
|
rs1316577809
|
|
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)
|
rs1567640107
|
|
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
|
|
|
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)
|
rs2142967912
|
|
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
|
|
|
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
|
|
|
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
|
|
|
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
|
|
|
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
|
|
|
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser)
|
rs143990276
|
|
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
|
|
|
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
|
|
|
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
|
|
|
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val)
|
rs2142967624
|
|
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
|
|
|
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
|
|
|
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter)
|
rs2052908546
|
|
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
|
|
|
NM_001082486.2(ACD):c.1206+4A>G
|
rs2142967211
|
|
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)
|
rs201907421
|
|
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
|
|
|
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
|
|
|
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
|
|
|
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val)
|
rs2052901178
|
|
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)
|
rs1476903915
|
|
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)
|
rs1281121095
|
|
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
|
|
|
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu)
|
rs149418249
|
|
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
|
|
|
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
|
|
|
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
|
|
|
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
|
rs1407657316
|
|
NM_001082486.2(ACD):c.1298+1G>C
|
rs2052898891
|
|
NM_001082486.2(ACD):c.1299-19A>G
|
|
|
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
|
|
|
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)
|
rs201926842
|
|
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
|
|
|
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
|
|
|
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
|
|
|
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)
|
rs772312742
|
|
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
|
|
|
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
|
|
|
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)
|
rs2142965523
|
|
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
|
|
|
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
|
|
|
NM_001082486.2(ACD):c.139C>G (p.His47Asp)
|
rs1057522813
|
|
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
|
|
|
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
|
|
|
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
|
|
|
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
|
|
|
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
|
|
|
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
|
|
|
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)
|
rs779383442
|
|
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
|
|
|
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)
|
rs748312961
|
|
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
|
|
|
NM_001082486.2(ACD):c.242+5G>A
|
|
|
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
|
|
|
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
|
|
|
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
|
|
|
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
|
|
|
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
|
|
|
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
|
|
|
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter)
|
rs2142974596
|
|
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
|
|
|
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
|
|
|
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp)
|
rs2142974572
|
|
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
|
|
|
NM_001082486.2(ACD):c.336+12G>A
|
|
|
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser)
|
rs377701284
|
|
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
|
rs141113896
|
|
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
|
|
|
NM_001082486.2(ACD):c.357G>C (p.Gln119His)
|
rs2052958022
|
|
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
|
|
|
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
|
|
|
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter)
|
rs1244950221
|
|
NM_001082486.2(ACD):c.413+1G>C
|
|
|
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter)
|
rs2142973399
|
|
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
|
|
|
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
|
|
|
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln)
|
rs2142976000
|
|
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
|
|
|
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
|
|
|
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
|
|
|
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs)
|
rs2142972519
|
|
NM_001082486.2(ACD):c.493+6G>A
|
rs2052945054
|
|
NM_001082486.2(ACD):c.494-11C>G
|
|
|
NM_001082486.2(ACD):c.494-5C>G
|
|
|
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
|
|
|
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro)
|
rs2142971578
|
|
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
|
|
|
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)
|
rs145007645
|
|
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
|
rs145007645
|
|
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
|
|
|
NM_001082486.2(ACD):c.536del (p.Gln179fs)
|
rs2142971508
|
|
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg)
|
rs2142971458
|
|
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
|
|
|
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
|
|
|
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
|
|
|
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
|
|
|
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
|
|
|
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
|
|
|
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
|
|
|
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
|
|
|
NM_001082486.2(ACD):c.641C>T (p.Ala214Val)
|
rs1306270247
|
|
NM_001082486.2(ACD):c.645+10G>C
|
|
|
NM_001082486.2(ACD):c.645+2T>C
|
|
|
NM_001082486.2(ACD):c.646-20A>G
|
|
|
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
|
|
|
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup)
|
rs2142970611
|
|
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
|
|
|
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
|
|
|
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
|
|
|
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
|
|
|
NM_001082486.2(ACD):c.702G>C (p.Gln234His)
|
rs1202466632
|
|
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)
|
rs757807430
|
|
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
|
|
|
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
|
|
|
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
|
|
|
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
|
|
|
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
|
rs1048865744
|
|
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr)
|
rs1048865744
|
|
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)
|
rs1555542235
|
|
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
|
rs1597770431
|
|
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
|
|
|
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
|
|
|
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
|
|
|
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly)
|
rs778481591
|
|
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
|
|
|
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
|
|
|
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
|
|
|
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
|
|
|
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
|
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)
|
rs2052924182
|
|
NM_001082486.2(ACD):c.830-1G>A
|
rs1597769397
|
|
NM_001082486.2(ACD):c.830-2A>T
|
rs2142968890
|
|
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
|
|
|
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
|
|
|
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
|
|
|
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
|
|
|
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn)
|
rs2052917223
|
|
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
|
|
|
NM_001082486.2(ACD):c.90G>C (p.Gln30His)
|
rs1242526760
|
|
NM_001082486.2(ACD):c.911C>T (p.Ala304Val)
|
rs2142968526
|
|
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
|
|
|
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
|
|
|
NM_001082486.2(ACD):c.950_951del (p.Pro317fs)
|
rs2142968355
|
|
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)
|
rs2052915383
|
|
NM_001082486.2(ACD):c.965C>T (p.Ala322Val)
|
rs2142968307
|
|
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
|
|
|
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
|
rs777812658
|
|
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
|
rs777812658
|
|
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp)
|
rs973439601
|
|
NM_001368809.2(AMPD2):c.-119G>C
|
|
|
NM_001368809.2(AMPD2):c.-45C>T
|
|
|
NM_001368809.2(AMPD2):c.-46C>G
|
rs1650210949
|
|
NM_001368809.2(AMPD2):c.-95T>C
|
|
|
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val)
|
rs2101153100
|
|
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val)
|
rs1195759768
|
|
NM_001368809.2(AMPD2):c.1080+3G>A
|
|
|
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
|
|
|
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met)
|
rs2101165160
|
|
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
|
|
|
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser)
|
rs2101165790
|
|
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys)
|
rs756027056
|
|
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)
|
rs192669225
|
|
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys)
|
rs1200977295
|
|
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
|
|
|
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
|
|
|
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
|
|
|
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
|
|
|
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)
|
rs374652371
|
|
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
|
|
|
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly)
|
rs146798795
|
|
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
|
|
|
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
|
|
|
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe)
|
rs2101167424
|
|
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
|
|
|
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
|
|
|
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys)
|
rs867766720
|
|
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
|
|
|
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
|
|
|
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
|
|
|
NM_001368809.2(AMPD2):c.1863-7C>G
|
rs563578390
|
|
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
|
|
|
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu)
|
rs955380053
|
|
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
|
|
|
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly)
|
rs1264297138
|
|
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=)
|
rs2101174469
|
|
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu)
|
rs1651160667
|
|
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
|
|
|
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly)
|
rs762954605
|
|
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
|
|
|
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
|
|
|
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly)
|
rs1651209949
|
|
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
|
|
|
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
|
|
|
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp)
|
rs202071045
|
|
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys)
|
rs2101154665
|
|
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu)
|
rs1650618181
|
|
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
|
|
|
NM_001368809.2(AMPD2):c.353+3G>A
|
|
|
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
|
|
|
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
|
|
|
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg)
|
rs2101156801
|
|
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
|
|
|
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp)
|
rs373334637
|
|
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
|
|
|
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
|
|
|
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)
|
rs138175138
|
|
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
|
|
|
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
|
|
|
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
|
|
|
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
|
|
|
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser)
|
rs943933650
|
|
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
|
|
|
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
|
|
|
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His)
|
rs749468757
|
|
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
|
|
|
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu)
|
rs770528852
|
|
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
|
|
|
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del)
|
rs1650781134
|
|
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
|
|
|
NM_001368809.2(AMPD2):c.861-3C>T
|
|
|
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
|
|
|
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu)
|
|
|
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro)
|
|
|
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr)
|
rs1760741097
|
|
NM_002449.5(MSX2):c.152C>T (p.Ala51Val)
|
rs1344807799
|
|
NM_002449.5(MSX2):c.157A>C (p.Met53Leu)
|
|
|
NM_002449.5(MSX2):c.163G>C (p.Asp55His)
|
|
|
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr)
|
rs2113491774
|
|
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg)
|
|
|
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu)
|
|
|
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly)
|
|
|
NM_002449.5(MSX2):c.2T>C (p.Met1Thr)
|
|
|
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro)
|
|
|
NM_002449.5(MSX2):c.332A>T (p.Asp111Val)
|
|
|
NM_002449.5(MSX2):c.338C>T (p.Ala113Val)
|
|
|
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly)
|
|
|
NM_002449.5(MSX2):c.437G>A (p.Arg146His)
|
|
|
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys)
|
|
|
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser)
|
rs1581520079
|
|
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser)
|
rs2113498683
|
|
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala)
|
|
|
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile)
|
|
|
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg)
|
|
|
NM_002449.5(MSX2):c.505A>G (p.Ile169Val)
|
rs2113498787
|
|
NM_002449.5(MSX2):c.50G>T (p.Gly17Val)
|
|
|
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg)
|
rs1760875161
|
|
NM_002449.5(MSX2):c.613C>G (p.Leu205Val)
|
|
|
NM_002449.5(MSX2):c.643A>T (p.Met215Leu)
|
|
|
NM_002449.5(MSX2):c.645G>A (p.Met215Ile)
|
|
|
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe)
|
|
|
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu)
|
|
|
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu)
|
|
|
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr)
|
rs1435910539
|
|
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu)
|
|
|
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu)
|
|
|
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg)
|
|
|
NM_002449.5(MSX2):c.745A>G (p.Ile249Val)
|
rs1760880294
|
|
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002449.5(MSX2):c.789G>A (p.Met263Ile)
|
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
|
|
|
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
|
rs2048708941
|
|
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)
|
rs1023549002
|
|
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)
|
rs2106256926
|
|
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)
|
rs1366113264
|
|
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
|
|
|
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
|
|
|
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
|
|
|
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
|
|
|
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val)
|
rs903373803
|
|
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
|
|
|
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser)
|
rs1421203694
|
|
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu)
|
rs771756537
|
|
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
|
|
|
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
|
|
|
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
|
|
|
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
|
|
|
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
|
|
|
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
|
|
|
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
|
|
|
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg)
|
rs1131691683
|
|
NM_005027.4(PIK3R2):c.1736+5G>C
|
|
|
NM_005027.4(PIK3R2):c.1736+6T>G
|
|
|
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)
|
|
|
NM_005027.4(PIK3R2):c.1775A>G (p.Asn592Ser)
|
|
|
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
|
|
|
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
|
|
|
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
|
|
|
NM_005027.4(PIK3R2):c.1980-16_1980-3del
|
|
|
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
|
|
|
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter)
|
rs2147945157
|
|
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
|
|
|
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
|
|
|
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
|
|
|
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
|
|
|
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
|
|
|
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
|
|
|
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
|
|
|
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
|
|
|
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
|
|
|
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
|
|
|
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
|
|
|
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
|
|
|
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
|
|
|
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
|
|
|
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
|
|
|
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
|
|
|
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
|
|
|
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
|
|
|
NM_005027.4(PIK3R2):c.598+12G>A
|
|
|
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly)
|
rs2147950675
|
|
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr)
|
rs1168878327
|
|
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
|
|
|
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del)
|
rs1173823214
|
|
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
|
|
|
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
|
|
|
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
|
|
|
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
|
|
|
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
|
|
|
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser)
|
rs112165780
|
|
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
|
|
|
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
|
|
|
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
|
|
|
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)
|
|
|
NM_005465.7(AKT3):c.1251+5G>T
|
rs780490457
|
|
NM_005465.7(AKT3):c.1258C>T (p.Pro420Ser)
|
|
|
NM_005465.7(AKT3):c.1271C>T (p.Pro424Leu)
|
|
|
NM_005465.7(AKT3):c.1276G>C (p.Val426Leu)
|
rs868556430
|
|
NM_005465.7(AKT3):c.1397C>T (p.Pro466Leu)
|
rs1669592664
|
|
NM_005465.7(AKT3):c.224G>A (p.Arg75Lys)
|
rs1553428545
|
|
NM_005465.7(AKT3):c.238A>T (p.Thr80Ser)
|
rs1682656371
|
|
NM_005465.7(AKT3):c.359G>A (p.Ser120Asn)
|
|
|
NM_005465.7(AKT3):c.364A>C (p.Thr122Pro)
|
|
|
NM_005465.7(AKT3):c.365C>G (p.Thr122Ser)
|
|
|
NM_005465.7(AKT3):c.404C>T (p.Ala135Val)
|
|
|
NM_005465.7(AKT3):c.526A>G (p.Met176Val)
|
|
|
NM_005465.7(AKT3):c.548T>C (p.Val183Ala)
|
|
|
NM_005465.7(AKT3):c.658C>T (p.Arg220Cys)
|
|
|
NM_005465.7(AKT3):c.682G>A (p.Val228Ile)
|
rs1678068695
|
|
NM_005465.7(AKT3):c.752A>G (p.Tyr251Cys)
|
rs766197531
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005465.7(AKT3):c.948+3A>G
|
rs2148488034
|
|
NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del)
|
rs764020658
|
|
NM_014846.4(WASHC5):c.1060A>G (p.Met354Val)
|
|
|
NM_014846.4(WASHC5):c.1121G>A (p.Arg374Gln)
|
|
|
NM_014846.4(WASHC5):c.113C>G (p.Ala38Gly)
|
|
|
NM_014846.4(WASHC5):c.1163A>G (p.Asn388Ser)
|
|
|
NM_014846.4(WASHC5):c.1166A>G (p.Asn389Ser)
|
|
|
NM_014846.4(WASHC5):c.1172G>A (p.Arg391His)
|
|
|
NM_014846.4(WASHC5):c.1188G>C (p.Lys396Asn)
|
|
|
NM_014846.4(WASHC5):c.1205A>G (p.Asp402Gly)
|
|
|
NM_014846.4(WASHC5):c.1378G>T (p.Val460Leu)
|
|
|
NM_014846.4(WASHC5):c.1481C>T (p.Ala494Val)
|
|
|
NM_014846.4(WASHC5):c.1504A>T (p.Ile502Leu)
|
|
|
NM_014846.4(WASHC5):c.1543G>C (p.Glu515Gln)
|
|
|
NM_014846.4(WASHC5):c.1557A>G (p.Gln519=)
|
rs1374104992
|
|
NM_014846.4(WASHC5):c.1580C>T (p.Thr527Ile)
|
|
|
NM_014846.4(WASHC5):c.1688+5T>G
|
|
|
NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu)
|
rs1816510758
|
|
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
|
rs761801345
|
|
NM_014846.4(WASHC5):c.1749A>C (p.Arg583Ser)
|
|
|
NM_014846.4(WASHC5):c.1850G>T (p.Gly617Val)
|
|
|
NM_014846.4(WASHC5):c.186+3A>G
|
|
|
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)
|
rs1816420898
|
|
NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu)
|
rs1586359734
|
|
NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys)
|
rs768146940
|
|
NM_014846.4(WASHC5):c.193G>A (p.Glu65Lys)
|
|
|
NM_014846.4(WASHC5):c.1948A>G (p.Ile650Val)
|
rs1188960621
|
|
NM_014846.4(WASHC5):c.1960A>G (p.Thr654Ala)
|
|
|
NM_014846.4(WASHC5):c.1963C>T (p.Arg655Cys)
|
|
|
NM_014846.4(WASHC5):c.1972A>G (p.Lys658Glu)
|
|
|
NM_014846.4(WASHC5):c.1991A>C (p.Tyr664Ser)
|
|
|
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)
|
rs763639768
|
|
NM_014846.4(WASHC5):c.2014G>A (p.Glu672Lys)
|
|
|
NM_014846.4(WASHC5):c.2090TCA[1] (p.Ile698del)
|
rs1554593551
|
|
NM_014846.4(WASHC5):c.2097+3A>G
|
|
|
NM_014846.4(WASHC5):c.2098-5C>G
|
|
|
NM_014846.4(WASHC5):c.2098G>A (p.Val700Met)
|
rs777613204
|
|
NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys)
|
rs878854987
|
|
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)
|
rs1586352875
|
|
NM_014846.4(WASHC5):c.2199+15_2199+16delinsTG
|
|
|
NM_014846.4(WASHC5):c.2255A>G (p.His752Arg)
|
|
|
NM_014846.4(WASHC5):c.2273T>C (p.Ile758Thr)
|
|
|
NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)
|
rs1419129064
|
|
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)
|
rs780468544
|
|
NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn)
|
rs140742485
|
|
NM_014846.4(WASHC5):c.2468G>A (p.Arg823Gln)
|
|
|
NM_014846.4(WASHC5):c.2504+5G>A
|
|
|
NM_014846.4(WASHC5):c.2506A>G (p.Met836Val)
|
rs2130023977
|
|
NM_014846.4(WASHC5):c.2521G>C (p.Asp841His)
|
rs2130023882
|
|
NM_014846.4(WASHC5):c.2545A>G (p.Met849Val)
|
rs1355658998
|
|
NM_014846.4(WASHC5):c.2566A>G (p.Thr856Ala)
|
|
|
NM_014846.4(WASHC5):c.2572A>G (p.Ser858Gly)
|
|
|
NM_014846.4(WASHC5):c.2635C>A (p.Leu879Ile)
|
|
|
NM_014846.4(WASHC5):c.2647A>G (p.Met883Val)
|
|
|
NM_014846.4(WASHC5):c.2654T>C (p.Val885Ala)
|
|
|
NM_014846.4(WASHC5):c.265A>G (p.Ile89Val)
|
|
|
NM_014846.4(WASHC5):c.2671T>G (p.Phe891Val)
|
|
|
NM_014846.4(WASHC5):c.26A>G (p.Asn9Ser)
|
|
|
NM_014846.4(WASHC5):c.2711C>T (p.Thr904Ile)
|
|
|
NM_014846.4(WASHC5):c.2734C>T (p.Leu912Phe)
|
|
|
NM_014846.4(WASHC5):c.2770+6T>C
|
rs2130019658
|
|
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser)
|
rs1815970512
|
|
NM_014846.4(WASHC5):c.2794T>A (p.Ser932Thr)
|
|
|
NM_014846.4(WASHC5):c.2833C>G (p.Leu945Val)
|
|
|
NM_014846.4(WASHC5):c.2842A>G (p.Ile948Val)
|
|
|
NM_014846.4(WASHC5):c.2860A>T (p.Met954Leu)
|
|
|
NM_014846.4(WASHC5):c.292G>T (p.Ala98Ser)
|
|
|
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)
|
rs1554591077
|
|
NM_014846.4(WASHC5):c.2973T>G (p.Ile991Met)
|
|
|
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)
|
rs767608029
|
|
NM_014846.4(WASHC5):c.3129C>G (p.Asn1043Lys)
|
|
|
NM_014846.4(WASHC5):c.3146C>T (p.Ala1049Val)
|
|
|
NM_014846.4(WASHC5):c.3182-16A>G
|
|
|
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu)
|
rs149383757
|
|
NM_014846.4(WASHC5):c.3202A>T (p.Thr1068Ser)
|
rs2129964066
|
|
NM_014846.4(WASHC5):c.3205G>A (p.Asp1069Asn)
|
|
|
NM_014846.4(WASHC5):c.3207C>A (p.Asp1069Glu)
|
|
|
NM_014846.4(WASHC5):c.3209C>T (p.Pro1070Leu)
|
|
|
NM_014846.4(WASHC5):c.3214G>A (p.Asp1072Asn)
|
|
|
NM_014846.4(WASHC5):c.3217T>C (p.Trp1073Arg)
|
|
|
NM_014846.4(WASHC5):c.332+4T>C
|
|
|
NM_014846.4(WASHC5):c.3328T>C (p.Cys1110Arg)
|
|
|
NM_014846.4(WASHC5):c.3335+5A>C
|
rs1815562338
|
|
NM_014846.4(WASHC5):c.3335G>A (p.Ser1112Asn)
|
rs1324512839
|
|
NM_014846.4(WASHC5):c.3400C>T (p.Arg1134Trp)
|
|
|
NM_014846.4(WASHC5):c.3450C>G (p.Phe1150Leu)
|
|
|
NM_014846.4(WASHC5):c.350A>G (p.Asn117Ser)
|
|
|
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg)
|
rs1563636568
|
|
NM_014846.4(WASHC5):c.417+9T>G
|
|
|
NM_014846.4(WASHC5):c.420T>G (p.Cys140Trp)
|
|
|
NM_014846.4(WASHC5):c.445A>G (p.Met149Val)
|
rs1817270519
|
|
NM_014846.4(WASHC5):c.50G>C (p.Arg17Thr)
|
|
|
NM_014846.4(WASHC5):c.518+13T>C
|
|
|
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)
|
rs1362286755
|
|
NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr)
|
rs1817146560
|
|
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)
|
rs1586384678
|
|
NM_014846.4(WASHC5):c.656A>G (p.Glu219Gly)
|
|
|
NM_014846.4(WASHC5):c.672G>T (p.Met224Ile)
|
|
|
NM_014846.4(WASHC5):c.683G>A (p.Arg228Gln)
|
|
|
NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys)
|
rs1817137048
|
|
NM_014846.4(WASHC5):c.733G>C (p.Glu245Gln)
|
|
|
NM_014846.4(WASHC5):c.778G>A (p.Val260Met)
|
|
|
NM_014846.4(WASHC5):c.786C>T (p.Leu262=)
|
|
|
NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser)
|
rs1020805660
|
|
NM_014846.4(WASHC5):c.880A>C (p.Met294Leu)
|
rs755946575
|
|
NM_014846.4(WASHC5):c.880A>G (p.Met294Val)
|
|
|
NM_014846.4(WASHC5):c.925G>A (p.Ala309Thr)
|
|
|
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
|
|
|
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
|
rs1206102625
|
|
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
|
|
|
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
|
|
|
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg)
|
rs982781639
|
|
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
|
|
|
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
|
|
|
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro)
|
rs200742071
|
|
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
|
|
|
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
|
|
|
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
|
|
|
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
|
|
|
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
|
|
|
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
|
|
|
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
|
rs1432135827
|
|
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
|
|
|
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
|
|
|
NM_015631.6(TCTN3):c.1203+5C>T
|
rs2139739478
|
|
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
|
|
|
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe)
|
rs1008019391
|
|
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
|
|
|
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
|
|
|
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
|
|
|
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr)
|
rs2139738439
|
|
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
|
|
|
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly)
|
rs2139738378
|
|
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr)
|
rs2139738242
|
|
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe)
|
rs2139737228
|
|
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
|
|
|
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
|
|
|
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
|
|
|
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)
|
rs1218187792
|
|
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
|
|
|
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg)
|
rs2097944204
|
|
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser)
|
rs1190331074
|
|
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
|
|
|
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu)
|
rs2139736784
|
|
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys)
|
rs2097942057
|
|
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
|
|
|
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)
|
rs1454064691
|
|
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
|
|
|
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
|
|
|
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
|
|
|
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
|
|
|
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
|
|
|
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)
|
rs765803620
|
|
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
|
|
|
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
|
|
|
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
|
|
|
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
|
|
|
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
|
|
|
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)
|
rs1165507491
|
|
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
|
|
|
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)
|
rs143735885
|
|
NM_015631.6(TCTN3):c.1647del (p.Thr550fs)
|
rs2139691832
|
|
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)
|
rs2139691743
|
|
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
|
|
|
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
|
|
|
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
|
|
|
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys)
|
rs1352225292
|
|
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)
|
rs1566062590
|
|
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
|
|
|
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
|
|
|
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)
|
rs927310199
|
|
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
|
|
|
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
|
|
|
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)
|
rs1291662541
|
|
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
|
|
|
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
|
|
|
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
|
|
|
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
|
|
|
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile)
|
rs2097955954
|
|
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val)
|
rs2139768503
|
|
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
|
|
|
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
|
|
|
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
|
|
|
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu)
|
rs2139767336
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
|
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
|
|
|
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly)
|
rs2139767099
|
|
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser)
|
rs1165732615
|
|
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
|
|
|
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg)
|
rs1005806916
|
|
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
|
rs533262975
|
|
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
|
|
|
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
|
|
|
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu)
|
rs1489817091
|
|
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr)
|
rs2139764940
|
|
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
|
|
|
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
|
|
|
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala)
|
rs1314557393
|
|
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
|
|
|
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn)
|
rs2139769650
|
|
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
|
|
|
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val)
|
rs888815068
|
|
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
|
|
|
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
|
|
|
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
|
|
|
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu)
|
rs2139750466
|
|
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
|
|
|
NM_015631.6(TCTN3):c.627+6C>G
|
|
|
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu)
|
rs1406986953
|
|
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
|
|
|
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
|
|
|
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser)
|
rs1555270274
|
|
NM_015631.6(TCTN3):c.735A>G (p.Ala245=)
|
rs2097949239
|
|
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
|
|
|
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
|
|
|
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser)
|
rs780304630
|
|
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
|
|
|
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
|
|
|
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu)
|
rs2139748562
|
|
NM_015631.6(TCTN3):c.852+4G>A
|
rs2139748541
|
|
NM_015631.6(TCTN3):c.853-11T>C
|
|
|
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
|
|
|
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
|
|
|
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu)
|
rs2139747266
|
|
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
|
|
|
NM_015631.6(TCTN3):c.888+3A>T
|
|
|
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
|
|
|
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile)
|
rs1024201294
|
|
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
|
|
|
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
|
|
|
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
|
|
|
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys)
|
rs745387147
|
|
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu)
|
rs1267152740
|
|
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
|
|
|
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
|
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)
|
rs1858060748
|
|
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
|
|
|
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
|
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)
|
rs2135158062
|
|
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)
|
rs1858141854
|
|
NM_016464.5(TMEM138):c.227A>G (p.His76Arg)
|
rs1411782602
|
|
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
|
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)
|
rs2135163033
|
|
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)
|
rs932618021
|
|
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
|
|
|
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
|
|
|
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)
|
rs1350244778
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
|
|
|
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)
|
rs2135165565
|
|
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
|
|
|
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
|
|
|
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)
|
rs890070939
|
|
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
|
|
|
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
|
|
|
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)
|
rs1000923142
|
|
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)
|
rs1565076874
|
|
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
|
|
|
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
|
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile)
|
rs1437958560
|
|
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=)
|
rs757534089
|
|
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser)
|
rs1038661281
|
|
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)
|
rs779442399
|
|
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg)
|
rs1558110707
|
|
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro)
|
rs1668897682
|
|
NM_022836.4(DCLRE1B):c.190-3C>G
|
rs1242019671
|
|
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln)
|
rs776471212
|
|
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val)
|
rs761321321
|
|
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)
|
rs755192360
|
|
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser)
|
rs2101068175
|
|
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe)
|
rs1339289910
|
|
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly)
|
rs1333588223
|
|
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp)
|
rs369389853
|
|
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter)
|
rs138603501
|
|
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg)
|
rs1553260999
|
|
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del)
|
rs763030449
|
|
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe)
|
rs946912356
|
|
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His)
|
rs772803140
|
|
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)
|
rs754841219
|
|
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
|
|
|
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
|
|
|
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
|
|
|
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
|
|
|
NM_022914.2(ACD):c.11G>A (p.Arg4His)
|
|
|
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
|
|
|
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
|
|
|
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
|
|
|
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs)
|
rs764120026
|
|
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
|
|
|
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr)
|
rs1555542868
|
|
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
|
|
|
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
|
|
|
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
|
|
|
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
|
|
|
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
|
|
|
NM_022914.2(ACD):c.209C>T (p.Ala70Val)
|
rs758189246
|
|
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
|
|
|
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
|
|
|
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
|
|
|
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs)
|
rs757084527
|
|
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
|
|
|
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
|
|
|
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
|
|
|
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
|
|
|
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
|
|
|
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
|
|
|
NM_022914.2(ACD):c.98C>A (p.Pro33His)
|
|
|
Single allele
|
|
|