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_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
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_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
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_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.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.898G>T (p.Val300Phe)
|
rs2147353947
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
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.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.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.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
|
|