NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
NC_000023.11:g.(41853228_41922929)(41923555_?)del
|
|
|
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter)
|
rs1556254569
|
|
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
|
|
|
NM_001367721.1(CASK):c.1269C>T (p.Asn423=)
|
rs17315800
|
|
NM_001367721.1(CASK):c.1315-7A>G
|
rs1555986221
|
|
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.1504-97G>A
|
|
|
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
|
|
|
NM_001367721.1(CASK):c.1582+1G>A
|
rs2147179060
|
|
NM_001367721.1(CASK):c.1583-1G>T
|
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)
|
rs1569306724
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
|
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)
|
rs1602253464
|
|
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
|
|
|
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
|
|
|
NM_001367721.1(CASK):c.2039+1del
|
|
|
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.2080C>T (p.Gln694Ter)
|
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)
|
rs1569295677
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)
|
rs12842195
|
|
NM_001367721.1(CASK):c.2156-1G>A
|
rs1569291261
|
|
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.2317+1G>A
|
rs1555975458
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001367721.1(CASK):c.2318-2A>G
|
rs863224854
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe)
|
rs2147067804
|
|
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.2561T>C (p.Val854Ala)
|
rs1569283243
|
|
NM_001367721.1(CASK):c.2604+1G>T
|
rs1555972599
|
|
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
|
|
|
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
|
|
|
NM_001367721.1(CASK):c.278+2_278+3del
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.356+1G>T
|
rs2147736023
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)
|
rs2147495562
|
|
NM_001367721.1(CASK):c.533-2A>G
|
rs1569380062
|
|
NM_001367721.1(CASK):c.533-5T>G
|
rs2147479605
|
|
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
|
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)
|
rs1556014749
|
|
NM_001367721.1(CASK):c.68del (p.Phe23fs)
|
rs1135401762
|
|
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
|
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)
|
rs2067016221
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
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.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)
|
rs1602424764
|
|
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter)
|
rs2147465256
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
|
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001367721.1(CASK):c.915G>A (p.Lys305=)
|
rs387906499
|
|
NM_003688.3:c.116_117delCA
|
|
|