NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)
|
rs1011320
|
0.95640
|
NM_002449.5(MSX2):c.386T>C (p.Met129Thr)
|
rs4242182
|
0.78320
|
NM_002449.5(MSX2):c.380-164G>A
|
rs4867776
|
0.58905
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)
|
rs12961939
|
0.21927
|
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)
|
rs566655
|
0.20323
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)
|
rs146695372
|
0.00010
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_020320.5(RARS2):c.422A>G (p.His141Arg)
|
rs377591456
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)
|
rs142863074
|
0.00003
|
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)
|
rs148341022
|
0.00003
|
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)
|
rs541195377
|
0.00001
|
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)
|
rs755786784
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg)
|
rs764875815
|
0.00001
|
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)
|
rs113994151
|
0.00001
|
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
|
rs1602424869
|
|
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)
|
rs1602424843
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001384732.1(CPLANE1):c.3290-2A>G
|
rs606231260
|
|
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg)
|
rs2150766539
|
|
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)
|
rs1587756000
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
|
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)
|
rs2100609915
|
|
NM_005559.4(LAMA1):c.2274+70dup
|
rs113133818
|
|
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)
|
rs148562491
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)
|
rs753312969
|
|
NM_020320.5(RARS2):c.407T>C (p.Val136Ala)
|
rs1057519014
|
|
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr)
|
rs1582576986
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_207346.3(TSEN54):c.221+3G>T
|
rs2147005856
|
|
NM_207346.3(TSEN54):c.249G>A (p.Arg83=)
|
rs2147006296
|
|