NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala)
|
rs111643041
|
0.00017
|
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)
|
rs141738108
|
0.00014
|
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)
|
rs372445055
|
0.00011
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000539.3(RHO):c.399C>A (p.Ile133=)
|
rs372812523
|
0.00008
|
NM_001004334.4(GPR179):c.5872T>C (p.Cys1958Arg)
|
rs368927813
|
0.00007
|
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)
|
rs201677741
|
0.00006
|
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
|
rs750153892
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)
|
rs1057521599
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)
|
rs538101562
|
0.00003
|
NM_001004334.4(GPR179):c.2605C>T (p.Arg869Trp)
|
rs576833922
|
0.00002
|
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)
|
rs767406620
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser)
|
rs147567539
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys)
|
rs766646613
|
0.00002
|
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser)
|
rs80338710
|
0.00001
|
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met)
|
rs80338713
|
0.00001
|
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)
|
rs28935474
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)
|
rs745554420
|
0.00001
|
NM_000390.4(CHM):c.1609+2dup
|
rs386833676
|
0.00001
|
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)
|
rs1402468701
|
0.00001
|
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His)
|
rs1203955457
|
0.00001
|
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser)
|
rs782624844
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)
|
rs199422249
|
0.00001
|
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)
|
rs1241455828
|
0.00001
|
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)
|
rs1556832824
|
0.00001
|
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu)
|
rs2073736194
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)
|
rs762905361
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)
|
rs753807510
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2
|
|
|
GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1
|
|
|
GRCh37/hg19 Xq26.3(chrX:136647475-136892054)x3
|
|
|
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
|
|
|
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
|
|
|
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)
|
rs387906473
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)
|
rs1569541092
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
NM_000047.3(ARSL):c.410G>T (p.Gly137Val)
|
rs80338711
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu)
|
rs1800291
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
|
|
|
NM_000307.5(POU3F4):c.896del (p.Lys299fs)
|
rs267606974
|
|
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
|
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)
|
rs2147287460
|
|
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)
|
rs1555895704
|
|
NM_000390.4(CHM):c.116+1G>T
|
rs786204761
|
|
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)
|
rs1556277815
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe)
|
rs199474698
|
|
NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala)
|
rs2144259445
|
|
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)
|
rs1556016292
|
|
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp)
|
rs28372358
|
|
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter)
|
rs886041595
|
|
NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
|
rs267606815
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro)
|
rs2148115732
|
|
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu)
|
rs80338837
|
|
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)
|
rs28935472
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)
|
rs2067775793
|
|
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)
|
rs267606816
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
|
|
|
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)
|
rs2147539327
|
|
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
|
rs587784295
|
|
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
|
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)
|
rs1555904878
|
|
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)
|
rs1931281945
|
|
NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del)
|
rs587780527
|
|
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe)
|
rs2147874862
|
|
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
|
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)
|
rs797045026
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
|
rs2063908570
|
|
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
|
|
|
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)
|
rs1064793796
|
|
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)
|
rs2147358490
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)
|
rs2147360044
|
|
NM_001356.5(DDX3X):c.443+3A>T
|
rs2147350644
|
|
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
|
|
|
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
|
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu)
|
rs1064796820
|
|
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)
|
rs2147353947
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)
|
rs121912300
|
|
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)
|
rs121912298
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)
|
rs121912293
|
|
NM_001363.5(DKC1):c.109_111del (p.Leu37del)
|
rs137854489
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)
|
rs199422250
|
|
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)
|
rs199422251
|
|
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)
|
rs199422252
|
|
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)
|
rs121912296
|
|
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)
|
rs199422253
|
|
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)
|
rs121912292
|
|
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)
|
rs121912299
|
|
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)
|
rs121912295
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)
|
rs121912289
|
|
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)
|
rs199422243
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser)
|
rs121912287
|
|
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)
|
rs121912301
|
|
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)
|
rs121912297
|
|
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)
|
rs199422244
|
|
NM_001363.5(DKC1):c.204C>A (p.His68Gln)
|
rs199422245
|
|
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe)
|
rs121912306
|
|
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)
|
rs121912294
|
|
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)
|
rs199422242
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)
|
rs199422246
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)
|
rs199422247
|
|
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)
|
rs137854491
|
|
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)
|
rs137854491
|
|
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)
|
rs199422248
|
|
NM_001363.5(DKC1):c.949C>G (p.Leu317Val)
|
rs121912290
|
|
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)
|
rs121912290
|
|
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)
|
rs2728726
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)
|
rs1064795031
|
|
NM_002547.3(OPHN1):c.155-2A>C
|
rs1064793755
|
|
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
|
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe)
|
rs2146915737
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val)
|
rs2073805082
|
|
NM_004187.5(KDM5C):c.4118-9A>G
|
|
|
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
|
|
|
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys)
|
rs1556852793
|
|
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn)
|
rs999882329
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
NM_004595.5(SMS):c.174T>A (p.Phe58Leu)
|
rs397515549
|
|
NM_004595.5(SMS):c.329+5G>A
|
rs397515381
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
NM_004595.5(SMS):c.908_911del (p.Met303fs)
|
rs1602220706
|
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
|
NM_005120.3(MED12):c.1547G>A (p.Arg516His)
|
rs1556334969
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)
|
rs2147797665
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)
|
rs2147798220
|
|
NM_005120.3(MED12):c.2861T>G (p.Val954Gly)
|
rs2147799283
|
|
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)
|
rs397515554
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.322C>T (p.Arg108Ter)
|
rs2147773440
|
|
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)
|
rs2147802318
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)
|
rs2147805960
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)
|
rs2147808490
|
|
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)
|
rs2147808505
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)
|
rs2147823333
|
|
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)
|
rs2147826070
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)
|
rs2147829167
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)
|
rs2147830849
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)
|
rs2147839335
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)
|
rs2147839986
|
|
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)
|
rs2147841562
|
|
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)
|
rs2147841653
|
|
NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu)
|
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)
|
rs367543059
|
|
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)
|
rs113994164
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)
|
rs113994162
|
|
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile)
|
rs1556860638
|
|
NM_012280.4(FTSJ1):c.620del (p.Pro207fs)
|
rs2147096084
|
|
NM_015107.3(PHF8):c.-60C>T
|
rs1557116325
|
|
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr)
|
rs1569448303
|
|
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
|
rs2061745581
|
|
NM_033380.3(COL4A5):c.1032+3_1032+6del
|
rs104886314
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
|
rs750585274
|
|
NM_139058.3(ARX):c.946G>T (p.Gly316Cys)
|
rs2048708756
|
|
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)
|
rs267606973
|
|
Single allele
|
|
|