NM_020751.3(COG6):c.1693-6A>T
|
rs78336861
|
0.03077
|
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
|
rs139313781
|
0.00280
|
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)
|
rs35277762
|
0.00237
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00196
|
NM_020751.3(COG6):c.65A>G (p.Asn22Ser)
|
rs149055210
|
0.00133
|
NM_020751.3(COG6):c.1693-12T>C
|
rs561776134
|
0.00097
|
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys)
|
rs141074983
|
0.00080
|
NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)
|
rs141114931
|
0.00078
|
NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)
|
rs139371264
|
0.00073
|
NM_020751.3(COG6):c.1693-7T>A
|
rs34566895
|
0.00073
|
NM_020751.3(COG6):c.1947G>A (p.Pro649=)
|
rs147311831
|
0.00069
|
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)
|
rs145438428
|
0.00056
|
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=)
|
rs143736590
|
0.00053
|
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile)
|
rs770985751
|
0.00048
|
NM_001110219.3(GJB6):c.6T>C (p.Asp2=)
|
rs200415730
|
0.00044
|
NM_020751.3(COG6):c.370-18A>G
|
rs184193902
|
0.00043
|
NM_020751.3(COG6):c.1233A>G (p.Lys411=)
|
rs201806513
|
0.00035
|
NM_001110219.3(GJB6):c.60C>T (p.Ile20=)
|
rs778513540
|
0.00032
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
NM_020751.3(COG6):c.1263T>C (p.His421=)
|
rs147295042
|
0.00024
|
NM_025216.3(WNT10A):c.514A>T (p.Arg172Trp)
|
rs145641272
|
0.00024
|
NM_001110219.3(GJB6):c.480G>A (p.Gly160=)
|
rs145762940
|
0.00021
|
NM_025216.3(WNT10A):c.609A>G (p.Pro203=)
|
rs201375368
|
0.00019
|
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala)
|
rs200779585
|
0.00017
|
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys)
|
rs142378484
|
0.00016
|
NM_020751.3(COG6):c.1075-12A>C
|
rs370228676
|
0.00016
|
NM_020751.3(COG6):c.261T>C (p.Asn87=)
|
rs146261996
|
0.00016
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
NM_025216.3(WNT10A):c.775C>A (p.Arg259=)
|
rs576855744
|
0.00014
|
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys)
|
rs745513263
|
0.00014
|
NM_020751.3(COG6):c.1533A>T (p.Thr511=)
|
rs201542120
|
0.00012
|
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)
|
rs199980023
|
0.00011
|
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr)
|
rs762311530
|
0.00011
|
NM_001814.6(CTSC):c.930C>T (p.Tyr310=)
|
rs148742372
|
0.00010
|
NM_020751.3(COG6):c.303T>C (p.Leu101=)
|
rs764185523
|
0.00010
|
NM_025216.3(WNT10A):c.159C>T (p.Pro53=)
|
rs143421847
|
0.00010
|
NM_025216.3(WNT10A):c.444G>A (p.Ala148=)
|
rs147145554
|
0.00010
|
NM_025216.3(WNT10A):c.429C>T (p.His143=)
|
rs747642854
|
0.00009
|
NM_001110219.3(GJB6):c.672A>G (p.Arg224=)
|
rs756597598
|
0.00008
|
NM_001814.6(CTSC):c.777C>T (p.Tyr259=)
|
rs147002502
|
0.00008
|
NM_020751.3(COG6):c.1140C>T (p.Leu380=)
|
rs772945485
|
0.00008
|
NM_001110219.3(GJB6):c.30C>T (p.Ile10=)
|
rs377181573
|
0.00007
|
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser)
|
rs149865858
|
0.00007
|
NM_025216.3(WNT10A):c.636C>T (p.Gly212=)
|
rs200233504
|
0.00007
|
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly)
|
rs767665930
|
0.00007
|
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=)
|
rs766593230
|
0.00006
|
NM_025216.3(WNT10A):c.512G>A (p.Arg171His)
|
rs199737793
|
0.00006
|
NM_020751.3(COG6):c.1071A>G (p.Leu357=)
|
rs746862943
|
0.00005
|
NM_025216.3(WNT10A):c.1131C>T (p.Cys377=)
|
rs747307399
|
0.00005
|
NM_025216.3(WNT10A):c.551G>A (p.Arg184His)
|
rs372756514
|
0.00005
|
NM_001110219.3(GJB6):c.226C>T (p.Leu76=)
|
rs180764573
|
0.00004
|
NM_001110219.3(GJB6):c.594G>A (p.Ala198=)
|
rs763870146
|
0.00004
|
NM_001814.6(CTSC):c.195G>T (p.Val65=)
|
rs776362819
|
0.00004
|
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln)
|
rs575727793
|
0.00004
|
NM_020751.3(COG6):c.336C>T (p.Ser112=)
|
rs111943857
|
0.00004
|
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=)
|
rs779449131
|
0.00004
|
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=)
|
rs886055644
|
0.00004
|
NM_025216.3(WNT10A):c.282C>T (p.His94=)
|
rs752237331
|
0.00004
|
NM_025216.3(WNT10A):c.498C>T (p.Asp166=)
|
rs143463683
|
0.00004
|
NM_025216.3(WNT10A):c.576C>T (p.Val192=)
|
rs759379609
|
0.00004
|
NM_025216.3(WNT10A):c.648C>T (p.Pro216=)
|
rs748375898
|
0.00004
|
NM_025216.3(WNT10A):c.720G>A (p.Ala240=)
|
rs749960537
|
0.00004
|
NM_025216.3(WNT10A):c.801G>C (p.Thr267=)
|
rs553058408
|
0.00004
|
NM_001814.6(CTSC):c.768C>T (p.Gly256=)
|
rs776824336
|
0.00003
|
NM_001814.6(CTSC):c.90C>T (p.Cys30=)
|
rs202160994
|
0.00003
|
NM_025216.3(WNT10A):c.420C>T (p.Gly140=)
|
rs148979463
|
0.00003
|
NM_025216.3(WNT10A):c.738C>T (p.Asn246=)
|
rs777801883
|
0.00003
|
NM_001814.6(CTSC):c.641+8A>G
|
rs754068012
|
0.00002
|
NM_020751.3(COG6):c.1368C>T (p.His456=)
|
rs550615578
|
0.00002
|
NM_020751.3(COG6):c.1558A>C (p.Arg520=)
|
rs760219472
|
0.00002
|
NM_025216.3(WNT10A):c.1116C>T (p.Cys372=)
|
rs528163562
|
0.00002
|
NM_025216.3(WNT10A):c.177A>T (p.Thr59=)
|
rs765843965
|
0.00002
|
NM_025216.3(WNT10A):c.199C>T (p.Leu67=)
|
rs753324320
|
0.00002
|
NM_025216.3(WNT10A):c.377-11T>C
|
rs369995297
|
0.00002
|
NM_025216.3(WNT10A):c.594G>A (p.Leu198=)
|
rs373347655
|
0.00002
|
NM_025216.3(WNT10A):c.660C>T (p.Phe220=)
|
rs765046353
|
0.00002
|
NM_025216.3(WNT10A):c.717C>T (p.His239=)
|
rs774097907
|
0.00002
|
NM_025216.3(WNT10A):c.902G>C (p.Arg301Pro)
|
rs777460453
|
0.00002
|
NM_025216.3(WNT10A):c.966G>C (p.Pro322=)
|
rs767856988
|
0.00002
|
NM_001110219.3(GJB6):c.300C>T (p.His100=)
|
rs757592980
|
0.00001
|
NM_001814.6(CTSC):c.1176T>C (p.Gly392=)
|
rs773977769
|
0.00001
|
NM_001814.6(CTSC):c.12G>A (p.Gly4=)
|
rs755959403
|
0.00001
|
NM_001814.6(CTSC):c.642-15A>G
|
rs748280232
|
0.00001
|
NM_001814.6(CTSC):c.804A>G (p.Glu268=)
|
rs1264570336
|
0.00001
|
NM_001814.6(CTSC):c.81T>G (p.Pro27=)
|
rs1370319468
|
0.00001
|
NM_020751.3(COG6):c.1009+15T>C
|
rs757170273
|
0.00001
|
NM_020751.3(COG6):c.123G>A (p.Lys41=)
|
rs757337069
|
0.00001
|
NM_020751.3(COG6):c.126C>T (p.Ile42=)
|
rs746085866
|
0.00001
|
NM_020751.3(COG6):c.154-12C>T
|
rs368678409
|
0.00001
|
NM_025216.3(WNT10A):c.1023G>A (p.Lys341=)
|
rs772468324
|
0.00001
|
NM_025216.3(WNT10A):c.1098C>T (p.Ser366=)
|
rs748882359
|
0.00001
|
NM_025216.3(WNT10A):c.1140C>T (p.Gly380=)
|
rs546588039
|
0.00001
|
NM_025216.3(WNT10A):c.1170G>A (p.Glu390=)
|
rs1166558151
|
0.00001
|
NM_025216.3(WNT10A):c.1239C>A (p.Val413=)
|
rs1189350015
|
0.00001
|
NM_025216.3(WNT10A):c.150C>T (p.Pro50=)
|
rs761730775
|
0.00001
|
NM_025216.3(WNT10A):c.168T>C (p.Asn56=)
|
rs758914779
|
0.00001
|
NM_025216.3(WNT10A):c.273C>T (p.Ile91=)
|
rs1011612159
|
0.00001
|
NM_025216.3(WNT10A):c.288C>T (p.Cys96=)
|
rs1285105830
|
0.00001
|
NM_025216.3(WNT10A):c.297A>G (p.Gln99=)
|
rs763599568
|
0.00001
|
NM_025216.3(WNT10A):c.327C>T (p.Ser109=)
|
rs754001343
|
0.00001
|
NM_025216.3(WNT10A):c.376+9C>T
|
rs762507003
|
0.00001
|
NM_025216.3(WNT10A):c.390C>T (p.Ser130=)
|
rs201002930
|
0.00001
|
NM_025216.3(WNT10A):c.432C>T (p.Ala144=)
|
rs773640896
|
0.00001
|
NM_025216.3(WNT10A):c.489G>A (p.Arg163=)
|
rs1004799015
|
0.00001
|
NM_025216.3(WNT10A):c.544C>T (p.Leu182=)
|
rs770264528
|
0.00001
|
NM_025216.3(WNT10A):c.558G>A (p.Lys186=)
|
rs370231674
|
0.00001
|
NM_025216.3(WNT10A):c.561C>T (p.Gly187=)
|
rs376559137
|
0.00001
|
NM_025216.3(WNT10A):c.72G>A (p.Val24=)
|
rs772447299
|
0.00001
|
NM_025216.3(WNT10A):c.732T>G (p.Leu244=)
|
rs753071577
|
0.00001
|
NM_025216.3(WNT10A):c.756+7G>A
|
rs774151091
|
0.00001
|
NM_025216.3(WNT10A):c.771C>T (p.Asn257=)
|
rs1411583565
|
0.00001
|
NM_025216.3(WNT10A):c.855C>T (p.Thr285=)
|
rs1387940323
|
0.00001
|
NM_025216.3(WNT10A):c.891C>G (p.Ala297=)
|
rs748083299
|
0.00001
|
NM_025216.3(WNT10A):c.936G>A (p.Pro312=)
|
rs1008383282
|
0.00001
|
NM_025216.3(WNT10A):c.942A>G (p.Pro314=)
|
rs964842903
|
0.00001
|
NM_025216.3(WNT10A):c.94C>T (p.Leu32=)
|
rs1422380518
|
0.00001
|
NM_025216.3(WNT10A):c.957G>T (p.Ser319=)
|
rs774589067
|
0.00001
|
NM_025216.3(WNT10A):c.969C>A (p.Gly323=)
|
rs1472729942
|
0.00001
|
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
|
|
|
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
|
|
|
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
|
|
|
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
|
|
|
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
|
|
|
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
|
|
|
NM_001110219.3(GJB6):c.723G>A (p.Gln241=)
|
rs556168075
|
|
NM_001814.6(CTSC):c.1011C>T (p.Cys337=)
|
|
|
NM_001814.6(CTSC):c.1017T>C (p.Arg339=)
|
|
|
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)
|
|
|
NM_001814.6(CTSC):c.1038C>T (p.His346=)
|
rs1355697311
|
|
NM_001814.6(CTSC):c.1053C>T (p.Phe351=)
|
|
|
NM_001814.6(CTSC):c.1062C>T (p.Gly354=)
|
|
|
NM_001814.6(CTSC):c.1104G>T (p.Gly368=)
|
|
|
NM_001814.6(CTSC):c.1119T>A (p.Ala373=)
|
|
|
NM_001814.6(CTSC):c.111C>T (p.Gly37=)
|
|
|
NM_001814.6(CTSC):c.1125A>G (p.Glu375=)
|
|
|
NM_001814.6(CTSC):c.1140C>T (p.Phe380=)
|
|
|
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)
|
|
|
NM_001814.6(CTSC):c.1158G>T (p.Gly386=)
|
|
|
NM_001814.6(CTSC):c.1161C>T (p.Ile387=)
|
|
|
NM_001814.6(CTSC):c.1179A>G (p.Leu393=)
|
|
|
NM_001814.6(CTSC):c.1188T>G (p.Pro396=)
|
|
|
NM_001814.6(CTSC):c.1194C>T (p.Asn398=)
|
|
|
NM_001814.6(CTSC):c.1197C>T (p.Pro399=)
|
|
|
NM_001814.6(CTSC):c.1227T>G (p.Leu409=)
|
|
|
NM_001814.6(CTSC):c.1239C>T (p.Gly413=)
|
|
|
NM_001814.6(CTSC):c.1242T>C (p.Thr414=)
|
|
|
NM_001814.6(CTSC):c.1254T>A (p.Ser418=)
|
|
|
NM_001814.6(CTSC):c.1257G>A (p.Gly419=)
|
|
|
NM_001814.6(CTSC):c.1257G>T (p.Gly419=)
|
|
|
NM_001814.6(CTSC):c.1272T>A (p.Ile424=)
|
|
|
NM_001814.6(CTSC):c.1272T>C (p.Ile424=)
|
|
|
NM_001814.6(CTSC):c.1284C>T (p.Ser428=)
|
|
|
NM_001814.6(CTSC):c.1320G>A (p.Arg440=)
|
|
|
NM_001814.6(CTSC):c.1323C>T (p.Ile441=)
|
|
|
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
|
|
|
NM_001814.6(CTSC):c.1341G>A (p.Glu447=)
|
|
|
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
|
|
|
NM_001814.6(CTSC):c.1377A>G (p.Pro459=)
|
|
|
NM_001814.6(CTSC):c.138C>T (p.Ser46=)
|
|
|
NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
|
|
|
NM_001814.6(CTSC):c.144C>G (p.Ser48=)
|
|
|
NM_001814.6(CTSC):c.147G>A (p.Gln49=)
|
|
|
NM_001814.6(CTSC):c.15C>T (p.Pro5=)
|
|
|
NM_001814.6(CTSC):c.162C>T (p.Cys54=)
|
|
|
NM_001814.6(CTSC):c.165G>A (p.Ser55=)
|
|
|
NM_001814.6(CTSC):c.168T>G (p.Val56=)
|
|
|
NM_001814.6(CTSC):c.172+10C>T
|
|
|
NM_001814.6(CTSC):c.172+13C>T
|
|
|
NM_001814.6(CTSC):c.172+15C>T
|
|
|
NM_001814.6(CTSC):c.172+19A>C
|
|
|
NM_001814.6(CTSC):c.172+8G>T
|
|
|
NM_001814.6(CTSC):c.173-10_173-7del
|
|
|
NM_001814.6(CTSC):c.173-11T>C
|
|
|
NM_001814.6(CTSC):c.173-15T>A
|
|
|
NM_001814.6(CTSC):c.173-15T>G
|
|
|
NM_001814.6(CTSC):c.173-19T>C
|
|
|
NM_001814.6(CTSC):c.173-6C>T
|
|
|
NM_001814.6(CTSC):c.173-7T>G
|
|
|
NM_001814.6(CTSC):c.173-8T>G
|
|
|
NM_001814.6(CTSC):c.174A>G (p.Gly58=)
|
|
|
NM_001814.6(CTSC):c.180A>G (p.Gln60=)
|
|
|
NM_001814.6(CTSC):c.189A>G (p.Lys63=)
|
|
|
NM_001814.6(CTSC):c.18C>T (p.Ser6=)
|
|
|
NM_001814.6(CTSC):c.210G>A (p.Lys70=)
|
|
|
NM_001814.6(CTSC):c.213G>T (p.Leu71=)
|
|
|
NM_001814.6(CTSC):c.21G>A (p.Leu7=)
|
|
|
NM_001814.6(CTSC):c.222A>G (p.Ala74=)
|
|
|
NM_001814.6(CTSC):c.22C>T (p.Leu8=)
|
|
|
NM_001814.6(CTSC):c.234T>C (p.Leu78=)
|
|
|
NM_001814.6(CTSC):c.237C>T (p.Gly79=)
|
|
|
NM_001814.6(CTSC):c.243T>G (p.Ser81=)
|
|
|
NM_001814.6(CTSC):c.249T>C (p.His83=)
|
|
|
NM_001814.6(CTSC):c.255C>T (p.Thr85=)
|
|
|
NM_001814.6(CTSC):c.273C>T (p.Gly91=)
|
|
|
NM_001814.6(CTSC):c.27C>T (p.Leu9=)
|
|
|
NM_001814.6(CTSC):c.288G>A (p.Leu96=)
|
|
|
NM_001814.6(CTSC):c.318+13G>T
|
|
|
NM_001814.6(CTSC):c.318+17G>T
|
|
|
NM_001814.6(CTSC):c.318+20G>T
|
|
|
NM_001814.6(CTSC):c.318+9T>C
|
|
|
NM_001814.6(CTSC):c.319-10T>C
|
|
|
NM_001814.6(CTSC):c.319-11T>C
|
|
|
NM_001814.6(CTSC):c.319-17C>G
|
|
|
NM_001814.6(CTSC):c.319-17C>T
|
|
|
NM_001814.6(CTSC):c.319-19_319-13del
|
|
|
NM_001814.6(CTSC):c.319-20T>A
|
|
|
NM_001814.6(CTSC):c.319-4G>T
|
|
|
NM_001814.6(CTSC):c.319-5T>C
|
|
|
NM_001814.6(CTSC):c.351C>T (p.Tyr117=)
|
|
|
NM_001814.6(CTSC):c.357C>T (p.Asn119=)
|
|
|
NM_001814.6(CTSC):c.363A>G (p.Thr121=)
|
|
|
NM_001814.6(CTSC):c.393C>T (p.Gly131=)
|
|
|
NM_001814.6(CTSC):c.408T>C (p.Cys136=)
|
|
|
NM_001814.6(CTSC):c.40C>T (p.Leu14=)
|
|
|
NM_001814.6(CTSC):c.414C>A (p.Thr138=)
|
|
|
NM_001814.6(CTSC):c.414C>T (p.Thr138=)
|
|
|
NM_001814.6(CTSC):c.42G>C (p.Leu14=)
|
|
|
NM_001814.6(CTSC):c.432T>C (p.Thr144=)
|
|
|
NM_001814.6(CTSC):c.450T>C (p.Tyr150=)
|
|
|
NM_001814.6(CTSC):c.480G>A (p.Gln160=)
|
|
|
NM_001814.6(CTSC):c.485+11A>G
|
|
|
NM_001814.6(CTSC):c.485+12C>T
|
|
|
NM_001814.6(CTSC):c.486-14A>C
|
|
|
NM_001814.6(CTSC):c.486-17C>T
|
|
|
NM_001814.6(CTSC):c.486-20T>C
|
|
|
NM_001814.6(CTSC):c.486-9T>G
|
|
|
NM_001814.6(CTSC):c.48C>T (p.Leu16=)
|
|
|
NM_001814.6(CTSC):c.495T>C (p.Asn165=)
|
|
|
NM_001814.6(CTSC):c.507G>A (p.Lys169=)
|
|
|
NM_001814.6(CTSC):c.51C>T (p.Ser17=)
|
|
|
NM_001814.6(CTSC):c.522T>C (p.Phe174=)
|
|
|
NM_001814.6(CTSC):c.546G>A (p.Gln182=)
|
|
|
NM_001814.6(CTSC):c.552T>G (p.Ser184=)
|
|
|
NM_001814.6(CTSC):c.591C>T (p.Thr197=)
|
|
|
NM_001814.6(CTSC):c.592C>T (p.Leu198=)
|
|
|
NM_001814.6(CTSC):c.609G>A (p.Arg203=)
|
|
|
NM_001814.6(CTSC):c.60C>T (p.Gly20=)
|
|
|
NM_001814.6(CTSC):c.63C>G (p.Ala21=)
|
|
|
NM_001814.6(CTSC):c.63C>T (p.Ala21=)
|
|
|
NM_001814.6(CTSC):c.641+10C>T
|
|
|
NM_001814.6(CTSC):c.641+12C>T
|
|
|
NM_001814.6(CTSC):c.641+20A>C
|
|
|
NM_001814.6(CTSC):c.641+20A>G
|
|
|
NM_001814.6(CTSC):c.642-8C>G
|
|
|
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
|
|
|
NM_001814.6(CTSC):c.666T>C (p.Ala222=)
|
|
|
NM_001814.6(CTSC):c.678A>G (p.Gln226=)
|
|
|
NM_001814.6(CTSC):c.696A>G (p.Pro232=)
|
|
|
NM_001814.6(CTSC):c.717T>C (p.Asn239=)
|
|
|
NM_001814.6(CTSC):c.729C>T (p.Ile243=)
|
rs766063253
|
|
NM_001814.6(CTSC):c.750A>C (p.Arg250=)
|
|
|
NM_001814.6(CTSC):c.757+15C>T
|
|
|
NM_001814.6(CTSC):c.757+17A>G
|
|
|
NM_001814.6(CTSC):c.758-16T>C
|
|
|
NM_001814.6(CTSC):c.758-16dup
|
|
|
NM_001814.6(CTSC):c.758-17C>T
|
|
|
NM_001814.6(CTSC):c.758-17_758-16del
|
|
|
NM_001814.6(CTSC):c.758-19G>A
|
|
|
NM_001814.6(CTSC):c.758-20T>C
|
|
|
NM_001814.6(CTSC):c.758-20T>G
|
|
|
NM_001814.6(CTSC):c.758-5G>A
|
|
|
NM_001814.6(CTSC):c.758-5G>T
|
|
|
NM_001814.6(CTSC):c.758-6C>T
|
|
|
NM_001814.6(CTSC):c.762C>G (p.Ser254=)
|
|
|
NM_001814.6(CTSC):c.789T>C (p.Ser263=)
|
|
|
NM_001814.6(CTSC):c.807G>A (p.Ala269=)
|
|
|
NM_001814.6(CTSC):c.84C>G (p.Ala28=)
|
|
|
NM_001814.6(CTSC):c.873T>C (p.Cys291=)
|
|
|
NM_001814.6(CTSC):c.87C>T (p.Asn29=)
|
|
|
NM_001814.6(CTSC):c.882T>C (p.Tyr294=)
|
|
|
NM_001814.6(CTSC):c.889+13T>C
|
|
|
NM_001814.6(CTSC):c.889+19A>G
|
|
|
NM_001814.6(CTSC):c.889+9T>A
|
|
|
NM_001814.6(CTSC):c.889+9T>C
|
|
|
NM_001814.6(CTSC):c.890-13T>A
|
|
|
NM_001814.6(CTSC):c.890-18T>C
|
|
|
NM_001814.6(CTSC):c.890-20T>C
|
|
|
NM_001814.6(CTSC):c.890-5T>C
|
|
|
NM_001814.6(CTSC):c.890-6C>T
|
|
|
NM_001814.6(CTSC):c.891C>T (p.Gly297=)
|
|
|
NM_001814.6(CTSC):c.897A>G (p.Glu299=)
|
|
|
NM_001814.6(CTSC):c.900C>T (p.Gly300=)
|
|
|
NM_001814.6(CTSC):c.927G>A (p.Lys309=)
|
|
|
NM_001814.6(CTSC):c.936A>G (p.Gln312=)
|
|
|
NM_001814.6(CTSC):c.942T>C (p.Phe314=)
|
|
|
NM_001814.6(CTSC):c.948G>A (p.Leu316=)
|
|
|
NM_001814.6(CTSC):c.954A>G (p.Glu318=)
|
rs886048739
|
|
NM_001814.6(CTSC):c.969C>G (p.Pro323=)
|
|
|
NM_001814.6(CTSC):c.975A>G (p.Thr325=)
|
|
|
NM_001814.6(CTSC):c.978C>T (p.Gly326=)
|
|
|
NM_001814.6(CTSC):c.981T>A (p.Thr327=)
|
|
|
NM_001814.6(CTSC):c.981T>G (p.Thr327=)
|
|
|
NM_001814.6(CTSC):c.996A>G (p.Lys332=)
|
|
|
NM_020751.3(COG6):c.1140C>G (p.Leu380=)
|
|
|
NM_020751.3(COG6):c.1242C>T (p.Phe414=)
|
rs2138033067
|
|
NM_020751.3(COG6):c.1357T>C (p.Leu453=)
|
rs2138074922
|
|
NM_020751.3(COG6):c.1362A>G (p.Ala454=)
|
|
|
NM_020751.3(COG6):c.153+11C>A
|
rs371609631
|
|
NM_020751.3(COG6):c.1542A>G (p.Leu514=)
|
|
|
NM_020751.3(COG6):c.1587C>T (p.Ile529=)
|
|
|
NM_020751.3(COG6):c.1602C>T (p.Asp534=)
|
|
|
NM_020751.3(COG6):c.1692+12G>C
|
|
|
NM_020751.3(COG6):c.1692+14T>C
|
|
|
NM_020751.3(COG6):c.1692+19C>T
|
rs200316624
|
|
NM_020751.3(COG6):c.1692+9A>G
|
|
|
NM_020751.3(COG6):c.1747-19A>G
|
rs776576163
|
|
NM_020751.3(COG6):c.1786T>C (p.Leu596=)
|
|
|
NM_020751.3(COG6):c.24G>A (p.Val8=)
|
|
|
NM_020751.3(COG6):c.370-18A>T
|
|
|
NM_020751.3(COG6):c.694+7G>T
|
|
|
NM_020751.3(COG6):c.723A>G (p.Ser241=)
|
|
|
NM_020751.3(COG6):c.788+10T>A
|
rs1876360494
|
|
NM_020751.3(COG6):c.84G>C (p.Ser28=)
|
rs374783198
|
|
NM_020751.3(COG6):c.870C>T (p.Pro290=)
|
|
|
NM_020751.3(COG6):c.981A>G (p.Glu327=)
|
rs2138007330
|
|
NM_020751.3(COG6):c.993G>A (p.Lys331=)
|
|
|
NM_025216.3(WNT10A):c.1002C>T (p.Ala334=)
|
rs745552253
|
|
NM_025216.3(WNT10A):c.1006C>T (p.Leu336=)
|
rs2106018580
|
|
NM_025216.3(WNT10A):c.1011C>A (p.Val337=)
|
rs748769072
|
|
NM_025216.3(WNT10A):c.1011C>T (p.Val337=)
|
|
|
NM_025216.3(WNT10A):c.1041G>A (p.Glu347=)
|
|
|
NM_025216.3(WNT10A):c.1044C>A (p.Arg348=)
|
rs760909396
|
|
NM_025216.3(WNT10A):c.1044C>G (p.Arg348=)
|
rs760909396
|
|
NM_025216.3(WNT10A):c.1047G>A (p.Glu349=)
|
rs766583861
|
|
NM_025216.3(WNT10A):c.1050G>T (p.Pro350=)
|
rs1424608713
|
|
NM_025216.3(WNT10A):c.1053C>G (p.Arg351=)
|
|
|
NM_025216.3(WNT10A):c.1056G>A (p.Leu352=)
|
|
|
NM_025216.3(WNT10A):c.1059C>T (p.Asp353=)
|
|
|
NM_025216.3(WNT10A):c.105C>G (p.Ala35=)
|
|
|
NM_025216.3(WNT10A):c.1080C>A (p.Arg360=)
|
|
|
NM_025216.3(WNT10A):c.1081C>T (p.Leu361=)
|
|
|
NM_025216.3(WNT10A):c.1092G>A (p.Lys364=)
|
rs1225945394
|
|
NM_025216.3(WNT10A):c.1101C>A (p.Ala367=)
|
|
|
NM_025216.3(WNT10A):c.1101C>G (p.Ala367=)
|
|
|
NM_025216.3(WNT10A):c.1107G>A (p.Ser369=)
|
rs1944677167
|
|
NM_025216.3(WNT10A):c.1107G>T (p.Ser369=)
|
rs1944677167
|
|
NM_025216.3(WNT10A):c.1110T>C (p.Asp370=)
|
|
|
NM_025216.3(WNT10A):c.111C>T (p.Pro37=)
|
|
|
NM_025216.3(WNT10A):c.1128C>T (p.Cys376=)
|
rs121908122
|
|
NM_025216.3(WNT10A):c.113+10C>T
|
|
|
NM_025216.3(WNT10A):c.113+17T>C
|
|
|
NM_025216.3(WNT10A):c.113+19C>T
|
|
|
NM_025216.3(WNT10A):c.113+7C>A
|
|
|
NM_025216.3(WNT10A):c.113+8C>A
|
rs2106010803
|
|
NM_025216.3(WNT10A):c.1137C>T (p.Arg379=)
|
|
|
NM_025216.3(WNT10A):c.114-10A>G
|
|
|
NM_025216.3(WNT10A):c.114-10A>T
|
|
|
NM_025216.3(WNT10A):c.114-8G>A
|
|
|
NM_025216.3(WNT10A):c.1143C>T (p.His381=)
|
rs1364034477
|
|
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=)
|
rs759671927
|
|
NM_025216.3(WNT10A):c.1149C>T (p.Ile383=)
|
rs2106018828
|
|
NM_025216.3(WNT10A):c.1155C>T (p.Arg385=)
|
|
|
NM_025216.3(WNT10A):c.1158G>A (p.Gln386=)
|
rs2106018840
|
|
NM_025216.3(WNT10A):c.1161G>A (p.Thr387=)
|
rs1464589833
|
|
NM_025216.3(WNT10A):c.1161G>T (p.Thr387=)
|
rs1464589833
|
|
NM_025216.3(WNT10A):c.1164C>T (p.Arg388=)
|
rs2106018848
|
|
NM_025216.3(WNT10A):c.1167C>T (p.Ser389=)
|
|
|
NM_025216.3(WNT10A):c.1173C>T (p.Arg391=)
|
rs1575235198
|
|
NM_025216.3(WNT10A):c.1179C>T (p.His393=)
|
|
|
NM_025216.3(WNT10A):c.1185C>T (p.Arg395=)
|
|
|
NM_025216.3(WNT10A):c.1188C>T (p.Phe396=)
|
|
|
NM_025216.3(WNT10A):c.1197C>T (p.Cys399=)
|
|
|
NM_025216.3(WNT10A):c.1206G>C (p.Val402=)
|
|
|
NM_025216.3(WNT10A):c.1212C>T (p.Cys404=)
|
|
|
NM_025216.3(WNT10A):c.1218G>A (p.Glu406=)
|
|
|
NM_025216.3(WNT10A):c.1221C>T (p.Cys407=)
|
rs1944679304
|
|
NM_025216.3(WNT10A):c.1242C>T (p.Ser414=)
|
|
|
NM_025216.3(WNT10A):c.1251G>A (p.Lys417=)
|
rs2106018955
|
|
NM_025216.3(WNT10A):c.132T>A (p.Ile44=)
|
|
|
NM_025216.3(WNT10A):c.133C>T (p.Leu45=)
|
|
|
NM_025216.3(WNT10A):c.135G>T (p.Leu45=)
|
rs1479630822
|
|
NM_025216.3(WNT10A):c.138C>T (p.Asp46=)
|
rs2106011476
|
|
NM_025216.3(WNT10A):c.150C>A (p.Pro50=)
|
rs761730775
|
|
NM_025216.3(WNT10A):c.162G>A (p.Val54=)
|
|
|
NM_025216.3(WNT10A):c.174C>T (p.Asn58=)
|
|
|
NM_025216.3(WNT10A):c.184C>T (p.Leu62=)
|
rs2106011547
|
|
NM_025216.3(WNT10A):c.186A>G (p.Leu62=)
|
rs2106011549
|
|
NM_025216.3(WNT10A):c.190T>C (p.Leu64=)
|
rs1163565666
|
|
NM_025216.3(WNT10A):c.201G>A (p.Leu67=)
|
rs904675306
|
|
NM_025216.3(WNT10A):c.201G>C (p.Leu67=)
|
rs904675306
|
|
NM_025216.3(WNT10A):c.208C>A (p.Arg70=)
|
|
|
NM_025216.3(WNT10A):c.219G>A (p.Glu73=)
|
|
|
NM_025216.3(WNT10A):c.21C>G (p.Arg7=)
|
|
|
NM_025216.3(WNT10A):c.21C>T (p.Arg7=)
|
|
|
NM_025216.3(WNT10A):c.243G>A (p.Val81=)
|
|
|
NM_025216.3(WNT10A):c.267C>A (p.Ile89=)
|
rs1163224121
|
|
NM_025216.3(WNT10A):c.273C>A (p.Ile91=)
|
rs1011612159
|
|
NM_025216.3(WNT10A):c.276C>T (p.Ala92=)
|
rs1944527945
|
|
NM_025216.3(WNT10A):c.279C>T (p.Ile93=)
|
rs2106011654
|
|
NM_025216.3(WNT10A):c.306C>T (p.Asp102=)
|
|
|
NM_025216.3(WNT10A):c.309G>A (p.Gln103=)
|
|
|
NM_025216.3(WNT10A):c.318C>T (p.Asn106=)
|
|
|
NM_025216.3(WNT10A):c.33G>A (p.Arg11=)
|
|
|
NM_025216.3(WNT10A):c.342C>T (p.Asn114=)
|
|
|
NM_025216.3(WNT10A):c.348C>T (p.Ile116=)
|
rs1575230042
|
|
NM_025216.3(WNT10A):c.351C>T (p.Pro117=)
|
rs1944529568
|
|
NM_025216.3(WNT10A):c.363C>T (p.Pro121=)
|
rs1944529758
|
|
NM_025216.3(WNT10A):c.36C>G (p.Leu12=)
|
|
|
NM_025216.3(WNT10A):c.36C>T (p.Leu12=)
|
rs1481057549
|
|
NM_025216.3(WNT10A):c.372C>T (p.Ser124=)
|
rs2106011740
|
|
NM_025216.3(WNT10A):c.376+13_376+14insCTTTCTTTCCAAGTTATGGATGTCCATTGTGTGGGGTCAGGTGACCTCCGTTTCCTCCA
|
|
|
NM_025216.3(WNT10A):c.376+17C>A
|
|
|
NM_025216.3(WNT10A):c.376+18C>A
|
|
|
NM_025216.3(WNT10A):c.376+19T>C
|
|
|
NM_025216.3(WNT10A):c.376+8C>T
|
|
|
NM_025216.3(WNT10A):c.377-12_377-10del
|
|
|
NM_025216.3(WNT10A):c.377-18C>G
|
|
|
NM_025216.3(WNT10A):c.387G>A (p.Glu129=)
|
|
|
NM_025216.3(WNT10A):c.399C>T (p.Ala133=)
|
|
|
NM_025216.3(WNT10A):c.39A>T (p.Arg13=)
|
|
|
NM_025216.3(WNT10A):c.405C>T (p.Ala135=)
|
|
|
NM_025216.3(WNT10A):c.408C>G (p.Ile136Met)
|
rs201117517
|
|
NM_025216.3(WNT10A):c.408C>T (p.Ile136=)
|
rs201117517
|
|
NM_025216.3(WNT10A):c.420C>A (p.Gly140=)
|
rs148979463
|
|
NM_025216.3(WNT10A):c.423G>C (p.Val141=)
|
rs748995277
|
|
NM_025216.3(WNT10A):c.42C>A (p.Pro14=)
|
rs1168115806
|
|
NM_025216.3(WNT10A):c.435G>A (p.Val145=)
|
|
|
NM_025216.3(WNT10A):c.438C>T (p.Ser146=)
|
rs2106016102
|
|
NM_025216.3(WNT10A):c.441T>C (p.Asn147=)
|
|
|
NM_025216.3(WNT10A):c.444G>C (p.Ala148=)
|
rs147145554
|
|
NM_025216.3(WNT10A):c.450C>A (p.Ala150=)
|
rs1944627555
|
|
NM_025216.3(WNT10A):c.456C>T (p.Gly152=)
|
rs1359098202
|
|
NM_025216.3(WNT10A):c.45G>A (p.Gln15=)
|
rs1364600200
|
|
NM_025216.3(WNT10A):c.462G>A (p.Leu154=)
|
|
|
NM_025216.3(WNT10A):c.462G>T (p.Leu154=)
|
|
|
NM_025216.3(WNT10A):c.465G>A (p.Lys155=)
|
rs2106016126
|
|
NM_025216.3(WNT10A):c.468C>T (p.Ala156=)
|
rs754608071
|
|
NM_025216.3(WNT10A):c.474C>T (p.Gly158=)
|
rs1944627971
|
|
NM_025216.3(WNT10A):c.477T>C (p.Cys159=)
|
rs199662136
|
|
NM_025216.3(WNT10A):c.483G>A (p.Ala161=)
|
rs200751156
|
|
NM_025216.3(WNT10A):c.483G>C (p.Ala161=)
|
rs200751156
|
|
NM_025216.3(WNT10A):c.483G>T (p.Ala161=)
|
|
|
NM_025216.3(WNT10A):c.495G>C (p.Gly165=)
|
rs1575233486
|
|
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser)
|
rs533605522
|
|
NM_025216.3(WNT10A):c.507C>T (p.Ala169=)
|
|
|
NM_025216.3(WNT10A):c.525C>T (p.His175=)
|
rs2106016216
|
|
NM_025216.3(WNT10A):c.529T>C (p.Leu177=)
|
|
|
NM_025216.3(WNT10A):c.537G>A (p.Leu179=)
|
|
|
NM_025216.3(WNT10A):c.540T>C (p.Asp180=)
|
rs1944631576
|
|
NM_025216.3(WNT10A):c.54G>A (p.Pro18=)
|
rs755581771
|
|
NM_025216.3(WNT10A):c.54G>C (p.Pro18=)
|
|
|
NM_025216.3(WNT10A):c.555T>C (p.Gly185=)
|
rs2106016253
|
|
NM_025216.3(WNT10A):c.564G>A (p.Leu188=)
|
|
|
NM_025216.3(WNT10A):c.567C>T (p.Ser189=)
|
rs1238996525
|
|
NM_025216.3(WNT10A):c.570T>C (p.His190=)
|
rs1391189104
|
|
NM_025216.3(WNT10A):c.576C>G (p.Val192=)
|
|
|
NM_025216.3(WNT10A):c.579G>A (p.Pro193=)
|
|
|
NM_025216.3(WNT10A):c.585C>T (p.His195=)
|
|
|
NM_025216.3(WNT10A):c.606C>T (p.Ser202=)
|
rs1428675922
|
|
NM_025216.3(WNT10A):c.612C>A (p.Gly204=)
|
|
|
NM_025216.3(WNT10A):c.613C>T (p.Leu205=)
|
rs2106016326
|
|
NM_025216.3(WNT10A):c.62C>G (p.Ala21Gly)
|
rs749864407
|
|
NM_025216.3(WNT10A):c.63G>T (p.Ala21=)
|
|
|
NM_025216.3(WNT10A):c.642C>T (p.Cys214=)
|
rs1220459716
|
|
NM_025216.3(WNT10A):c.645C>T (p.Ser215=)
|
rs2106016370
|
|
NM_025216.3(WNT10A):c.663G>A (p.Gly221=)
|
|
|
NM_025216.3(WNT10A):c.666G>A (p.Glu222=)
|
|
|
NM_025216.3(WNT10A):c.681C>T (p.Asp227=)
|
rs2106016458
|
|
NM_025216.3(WNT10A):c.690C>T (p.Asp230=)
|
rs754257075
|
|
NM_025216.3(WNT10A):c.705C>T (p.His235=)
|
rs1575233706
|
|
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val)
|
rs201578578
|
|
NM_025216.3(WNT10A):c.720G>T (p.Ala240=)
|
|
|
NM_025216.3(WNT10A):c.72G>T (p.Val24=)
|
|
|
NM_025216.3(WNT10A):c.741C>T (p.Asn247=)
|
|
|
NM_025216.3(WNT10A):c.744A>G (p.Arg248=)
|
rs1282187686
|
|
NM_025216.3(WNT10A):c.756+13C>A
|
rs745958462
|
|
NM_025216.3(WNT10A):c.756+15C>A
|
|
|
NM_025216.3(WNT10A):c.756+17T>C
|
|
|
NM_025216.3(WNT10A):c.756+17del
|
|
|
NM_025216.3(WNT10A):c.756+18G>A
|
|
|
NM_025216.3(WNT10A):c.756+20G>A
|
|
|
NM_025216.3(WNT10A):c.756+9C>A
|
rs2106016606
|
|
NM_025216.3(WNT10A):c.757-16G>A
|
|
|
NM_025216.3(WNT10A):c.757-17G>T
|
|
|
NM_025216.3(WNT10A):c.757-20C>A
|
|
|
NM_025216.3(WNT10A):c.757-6C>T
|
rs757483068
|
|
NM_025216.3(WNT10A):c.757-9C>A
|
|
|
NM_025216.3(WNT10A):c.75C>G (p.Leu25=)
|
|
|
NM_025216.3(WNT10A):c.75C>T (p.Leu25=)
|
|
|
NM_025216.3(WNT10A):c.762G>A (p.Val254=)
|
|
|
NM_025216.3(WNT10A):c.76C>T (p.Leu26=)
|
|
|
NM_025216.3(WNT10A):c.777G>T (p.Arg259=)
|
rs959922127
|
|
NM_025216.3(WNT10A):c.78G>A (p.Leu26=)
|
|
|
NM_025216.3(WNT10A):c.78G>C (p.Leu26=)
|
|
|
NM_025216.3(WNT10A):c.78G>T (p.Leu26=)
|
|
|
NM_025216.3(WNT10A):c.795C>T (p.His265=)
|
|
|
NM_025216.3(WNT10A):c.801G>A (p.Thr267=)
|
rs553058408
|
|
NM_025216.3(WNT10A):c.801G>T (p.Thr267=)
|
|
|
NM_025216.3(WNT10A):c.813C>T (p.Cys271=)
|
rs915439029
|
|
NM_025216.3(WNT10A):c.816G>A (p.Gln272=)
|
rs924058194
|
|
NM_025216.3(WNT10A):c.819C>T (p.Leu273=)
|
|
|
NM_025216.3(WNT10A):c.81C>T (p.Phe27=)
|
|
|
NM_025216.3(WNT10A):c.822G>A (p.Lys274=)
|
|
|
NM_025216.3(WNT10A):c.825G>T (p.Thr275=)
|
rs776303684
|
|
NM_025216.3(WNT10A):c.840G>T (p.Thr280=)
|
|
|
NM_025216.3(WNT10A):c.843C>G (p.Pro281=)
|
|
|
NM_025216.3(WNT10A):c.843C>T (p.Pro281=)
|
rs1944670532
|
|
NM_025216.3(WNT10A):c.855C>A (p.Thr285=)
|
rs1387940323
|
|
NM_025216.3(WNT10A):c.858G>C (p.Val286=)
|
|
|
NM_025216.3(WNT10A):c.864G>A (p.Ala288=)
|
rs1575234822
|
|
NM_025216.3(WNT10A):c.87A>G (p.Leu29=)
|
|
|
NM_025216.3(WNT10A):c.882C>T (p.Phe294=)
|
|
|
NM_025216.3(WNT10A):c.88C>T (p.Leu30=)
|
rs1170576151
|
|
NM_025216.3(WNT10A):c.891C>A (p.Ala297=)
|
rs748083299
|
|
NM_025216.3(WNT10A):c.900C>T (p.Ile300=)
|
|
|
NM_025216.3(WNT10A):c.903G>A (p.Arg301=)
|
|
|
NM_025216.3(WNT10A):c.903G>T (p.Arg301=)
|
|
|
NM_025216.3(WNT10A):c.906G>A (p.Pro302=)
|
rs898393511
|
|
NM_025216.3(WNT10A):c.906G>T (p.Pro302=)
|
rs898393511
|
|
NM_025216.3(WNT10A):c.90G>C (p.Leu30=)
|
|
|
NM_025216.3(WNT10A):c.915C>T (p.Arg305=)
|
|
|
NM_025216.3(WNT10A):c.918C>T (p.Asn306=)
|
|
|
NM_025216.3(WNT10A):c.927G>A (p.Gln309=)
|
|
|
NM_025216.3(WNT10A):c.930G>A (p.Leu310=)
|
rs2106018391
|
|
NM_025216.3(WNT10A):c.936G>C (p.Pro312=)
|
|
|
NM_025216.3(WNT10A):c.939C>T (p.Gly313=)
|
rs2106018426
|
|
NM_025216.3(WNT10A):c.945G>A (p.Ala315=)
|
|
|
NM_025216.3(WNT10A):c.951A>G (p.Ala317=)
|
rs2106018469
|
|
NM_025216.3(WNT10A):c.966G>A (p.Pro322=)
|
|
|
NM_025216.3(WNT10A):c.981G>A (p.Pro327=)
|
|
|
NM_025216.3(WNT10A):c.981G>T (p.Pro327=)
|
|
|
NM_025216.3(WNT10A):c.999C>G (p.Pro333=)
|
rs983371049
|
|