NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_002547.3(OPHN1):c.702+11A>C
|
rs375325266
|
0.00125
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
|
rs376390125
|
0.00001
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
0.00001
|
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)
|
rs1556016632
|
|
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)
|
rs797045646
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)
|
rs371109150
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)
|
rs587784300
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001367721.1(CASK):c.1269C>T (p.Asn423=)
|
rs17315800
|
|
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.2039G>C (p.Trp680Ser)
|
rs587783358
|
|
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.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
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.617G>A (p.Gly206Asp)
|
rs587783367
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
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_002547.3(OPHN1):c.2159-4C>T
|
rs587784233
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)
|
rs587780372
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
NM_006517.5(SLC16A2):c.-53A>C
|
rs587784385
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|