NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu)
|
rs587784478
|
0.00001
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter)
|
rs587784475
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
NM_207346.3(TSEN54):c.575_576del (p.His192fs)
|
rs587784479
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|