NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)
|
rs759161435
|
0.00005
|
NM_001367721.1(CASK):c.42G>C (p.Leu14=)
|
rs377590077
|
0.00005
|
NM_001367721.1(CASK):c.974C>A (p.Pro325His)
|
rs760139497
|
0.00005
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)
|
rs76106850
|
0.00003
|
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln)
|
rs138646715
|
0.00003
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
0.00002
|
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)
|
rs1421702106
|
0.00002
|
NM_001367721.1(CASK):c.1805C>T (p.Ser602Leu)
|
rs868537608
|
0.00002
|
NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala)
|
rs775963628
|
0.00002
|
NM_001367721.1(CASK):c.1088G>A (p.Cys363Tyr)
|
rs771782394
|
0.00001
|
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn)
|
rs1205947875
|
0.00001
|
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala)
|
rs886042221
|
0.00001
|
NM_001367721.1(CASK):c.1503+3A>G
|
rs1468715588
|
0.00001
|
NM_001367721.1(CASK):c.159G>T (p.Gly53=)
|
rs761946846
|
0.00001
|
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser)
|
rs900079494
|
0.00001
|
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val)
|
rs1168108458
|
0.00001
|
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)
|
rs398123811
|
0.00001
|
NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe)
|
rs2064797874
|
0.00001
|
NM_001367721.1(CASK):c.2390T>C (p.Met797Thr)
|
rs771473384
|
0.00001
|
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)
|
rs751235198
|
0.00001
|
NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu)
|
rs774433205
|
0.00001
|
NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr)
|
rs1372580366
|
0.00001
|
NM_001367721.1(CASK):c.2509G>A (p.Val837Met)
|
rs768962946
|
0.00001
|
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe)
|
rs777220099
|
0.00001
|
NM_001367721.1(CASK):c.2737G>A (p.Val913Met)
|
rs374765049
|
0.00001
|
NM_001367721.1(CASK):c.524T>C (p.Val175Ala)
|
rs781247892
|
0.00001
|
NM_001367721.1(CASK):c.656T>C (p.Phe219Ser)
|
rs1189980578
|
0.00001
|
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys)
|
rs1361659361
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3
|
|
|
NM_001367721.1(CASK):c.*1317G>A
|
|
|
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001367721.1(CASK):c.1036G>A (p.Ala346Thr)
|
rs2147279563
|
|
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly)
|
rs2147279282
|
|
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His)
|
|
|
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu)
|
rs2147231422
|
|
NM_001367721.1(CASK):c.1215A>G (p.Ala405=)
|
rs1555989329
|
|
NM_001367721.1(CASK):c.1224A>G (p.Arg408=)
|
rs1555989321
|
|
NM_001367721.1(CASK):c.1238T>C (p.Leu413Ser)
|
rs2147224451
|
|
NM_001367721.1(CASK):c.1270G>A (p.Asp424Asn)
|
|
|
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr)
|
rs1064796207
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn)
|
rs2065516822
|
|
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)
|
rs1021774904
|
|
NM_001367721.1(CASK):c.1439T>A (p.Met480Lys)
|
rs2147201151
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001367721.1(CASK):c.1504-5A>G
|
|
|
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg)
|
rs2147179382
|
|
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile)
|
rs1064794341
|
|
NM_001367721.1(CASK):c.1582+3A>T
|
rs2147179049
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr)
|
rs1064797367
|
|
NM_001367721.1(CASK):c.1737+7A>T
|
|
|
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly)
|
rs2147145150
|
|
NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile)
|
|
|
NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala)
|
rs2065150872
|
|
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
|
|
|
NM_001367721.1(CASK):c.1842+6T>C
|
rs2147142062
|
|
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)
|
|
|
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val)
|
rs1555980007
|
|
NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)
|
|
|
NM_001367721.1(CASK):c.2047G>A (p.Ala683Thr)
|
rs1162012524
|
|
NM_001367721.1(CASK):c.2155+4_2155+6delinsA
|
rs752382791
|
|
NM_001367721.1(CASK):c.2156-4_2156-3delinsAAAACGCAAAGTGTTTTAGTTTTTAGTGTTTAGTTAAAACACTAA
|
rs2147096402
|
|
NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro)
|
rs1064794425
|
|
NM_001367721.1(CASK):c.2192T>C (p.Val731Ala)
|
rs2064855229
|
|
NM_001367721.1(CASK):c.2230T>G (p.Leu744Val)
|
rs2064854651
|
|
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp)
|
rs1555975493
|
|
NM_001367721.1(CASK):c.2248G>T (p.Val750Phe)
|
rs2147095961
|
|
NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)
|
|
|
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
|
|
|
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu)
|
rs1064795035
|
|
NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)
|
|
|
NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser)
|
rs2147085972
|
|
NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys)
|
|
|
NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr)
|
rs1569288273
|
|
NM_001367721.1(CASK):c.2662C>T (p.His888Tyr)
|
rs2147059682
|
|
NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)
|
|
|
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)
|
|
|
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
|
|
|
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)
|
|
|
NM_001367721.1(CASK):c.281T>C (p.Met94Thr)
|
rs2147736309
|
|
NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
|
|
|
NM_001367721.1(CASK):c.344A>T (p.Glu115Val)
|
rs886043662
|
|
NM_001367721.1(CASK):c.357C>A (p.Ser119Arg)
|
|
|
NM_001367721.1(CASK):c.418A>G (p.Arg140Gly)
|
rs2147718784
|
|
NM_001367721.1(CASK):c.421G>C (p.Asp141His)
|
|
|
NM_001367721.1(CASK):c.430-4T>C
|
|
|
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
|
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile)
|
rs1569379996
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001367721.1(CASK):c.708+2dup
|
|
|
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser)
|
rs886043863
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.835C>T (p.Arg279Trp)
|
|
|
NM_001367721.1(CASK):c.836G>A (p.Arg279Gln)
|
rs2066559589
|
|
NM_001367721.1(CASK):c.891A>G (p.Lys297=)
|
rs544979992
|
|
NM_001367721.1(CASK):c.898G>A (p.Ala300Thr)
|
rs1442053618
|
|
NM_001367721.1(CASK):c.916G>A (p.Gly306Ser)
|
|
|
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr)
|
rs771426240
|
|
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly)
|
|
|