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.1289G>A (p.Arg430His)
|
rs139731261
|
0.00020
|
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.1411G>A (p.Asp471Asn)
|
rs201435578
|
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.1076C>T (p.Ala359Val)
|
rs762180439
|
0.00003
|
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.937T>A (p.Ser313Thr)
|
rs755594972
|
0.00003
|
NM_001367721.1(CASK):c.1117A>G (p.Ser373Gly)
|
rs770423990
|
0.00002
|
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.1210G>A (p.Asp404Asn)
|
rs762462874
|
0.00001
|
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala)
|
rs886042221
|
0.00001
|
NM_001367721.1(CASK):c.1432G>A (p.Gly478Arg)
|
rs771717545
|
0.00001
|
NM_001367721.1(CASK):c.1436A>G (p.Asp479Gly)
|
rs1141273
|
0.00001
|
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly)
|
rs1409442804
|
0.00001
|
NM_001367721.1(CASK):c.1503+3A>G
|
rs1468715588
|
0.00001
|
NM_001367721.1(CASK):c.1587A>G (p.Thr529=)
|
rs1243353784
|
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.2048C>T (p.Ala683Val)
|
rs767030499
|
0.00001
|
NM_001367721.1(CASK):c.2155+4G>A
|
rs749155089
|
0.00001
|
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)
|
rs398123811
|
0.00001
|
NM_001367721.1(CASK):c.2325C>T (p.Thr775=)
|
rs760957859
|
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.2588C>T (p.Thr863Ile)
|
rs966502877
|
0.00001
|
NM_001367721.1(CASK):c.2621G>A (p.Arg874His)
|
rs754713652
|
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.2777A>G (p.Tyr926Cys)
|
rs748918088
|
0.00001
|
NM_001367721.1(CASK):c.279T>C (p.Phe93=)
|
rs1556042440
|
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.661G>A (p.Gly221Arg)
|
rs1256169792
|
0.00001
|
NM_001367721.1(CASK):c.709-6C>G
|
rs780772643
|
0.00001
|
NM_001367721.1(CASK):c.831+4C>A
|
rs1275463774
|
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
|
|
|
NC_000023.10:g.(?_41379673)_(41420907_?)dup
|
|
|
NC_000023.10:g.(?_41393939)_(41420917_?)dup
|
|
|
NC_000023.10:g.(?_41446140)_(41446260_?)del
|
|
|
NC_000023.10:g.(?_41446140)_(41530803_?)dup
|
|
|
NC_000023.10:g.(?_41712348)_(41782241_?)dup
|
|
|
NC_000023.11:g.(?_41520400)_(41665472_?)dup
|
|
|
NM_001367721.1(CASK):c.*1317G>A
|
|
|
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val)
|
rs2066303451
|
|
NM_001367721.1(CASK):c.1033+7A>G
|
|
|
NM_001367721.1(CASK):c.1036G>A (p.Ala346Thr)
|
rs2147279563
|
|
NM_001367721.1(CASK):c.1046A>G (p.Gln349Arg)
|
|
|
NM_001367721.1(CASK):c.104G>A (p.Gly35Glu)
|
rs1485547629
|
|
NM_001367721.1(CASK):c.1081A>G (p.Thr361Ala)
|
|
|
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly)
|
rs2147279282
|
|
NM_001367721.1(CASK):c.1108T>A (p.Phe370Ile)
|
rs2147279219
|
|
NM_001367721.1(CASK):c.1114C>T (p.His372Tyr)
|
rs2147279206
|
|
NM_001367721.1(CASK):c.1116C>G (p.His372Gln)
|
|
|
NM_001367721.1(CASK):c.1127A>G (p.Gln376Arg)
|
|
|
NM_001367721.1(CASK):c.1136A>G (p.His379Arg)
|
|
|
NM_001367721.1(CASK):c.1155+2dup
|
|
|
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His)
|
|
|
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu)
|
rs2147231422
|
|
NM_001367721.1(CASK):c.1186C>G (p.Pro396Ala)
|
|
|
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.1241A>C (p.Glu414Ala)
|
|
|
NM_001367721.1(CASK):c.1253G>A (p.Cys418Tyr)
|
|
|
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser)
|
rs2065666644
|
|
NM_001367721.1(CASK):c.1269C>T (p.Asn423=)
|
rs17315800
|
|
NM_001367721.1(CASK):c.1270G>A (p.Asp424Asn)
|
|
|
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr)
|
rs1064796207
|
|
NM_001367721.1(CASK):c.1279G>A (p.Glu427Lys)
|
|
|
NM_001367721.1(CASK):c.1294T>G (p.Leu432Val)
|
|
|
NM_001367721.1(CASK):c.1314+3A>G
|
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
NM_001367721.1(CASK):c.1315G>A (p.Ala439Thr)
|
|
|
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn)
|
rs2065516822
|
|
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys)
|
rs2147201432
|
|
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)
|
rs1021774904
|
|
NM_001367721.1(CASK):c.1438A>T (p.Met480Leu)
|
rs2065514700
|
|
NM_001367721.1(CASK):c.1439T>A (p.Met480Lys)
|
rs2147201151
|
|
NM_001367721.1(CASK):c.1439T>C (p.Met480Thr)
|
rs2147201151
|
|
NM_001367721.1(CASK):c.1451A>G (p.Asn484Ser)
|
|
|
NM_001367721.1(CASK):c.1453G>C (p.Val485Leu)
|
rs2065514569
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001367721.1(CASK):c.1487A>C (p.Asn496Thr)
|
|
|
NM_001367721.1(CASK):c.1501A>G (p.Met501Val)
|
rs2065513776
|
|
NM_001367721.1(CASK):c.1504-5A>G
|
|
|
NM_001367721.1(CASK):c.1504-6T>A
|
rs767346232
|
|
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.1535A>G (p.His512Arg)
|
|
|
NM_001367721.1(CASK):c.1538G>A (p.Cys513Tyr)
|
rs2147179242
|
|
NM_001367721.1(CASK):c.1540A>G (p.Ile514Val)
|
rs2065378550
|
|
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr)
|
rs1555983784
|
|
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val)
|
rs2065377974
|
|
NM_001367721.1(CASK):c.1582+3A>T
|
rs2147179049
|
|
NM_001367721.1(CASK):c.1598G>C (p.Gly533Ala)
|
rs2147155894
|
|
NM_001367721.1(CASK):c.15C>A (p.Asp5Glu)
|
rs2148116158
|
|
NM_001367721.1(CASK):c.1619A>G (p.Asn540Ser)
|
|
|
NM_001367721.1(CASK):c.1643C>G (p.Thr548Arg)
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
NM_001367721.1(CASK):c.1669-5T>A
|
rs187065810
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
NM_001367721.1(CASK):c.1678C>T (p.Arg560Trp)
|
|
|
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr)
|
rs1064797367
|
|
NM_001367721.1(CASK):c.1715G>A (p.Arg572His)
|
|
|
NM_001367721.1(CASK):c.172+1G>A
|
rs2147971387
|
|
NM_001367721.1(CASK):c.172+5_172+6delinsAT
|
|
|
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu)
|
rs2065202221
|
|
NM_001367721.1(CASK):c.1737+7A>T
|
|
|
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly)
|
rs2147145150
|
|
NM_001367721.1(CASK):c.1790C>G (p.Thr597Ser)
|
|
|
NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile)
|
|
|
NM_001367721.1(CASK):c.1806G>A (p.Ser602=)
|
|
|
NM_001367721.1(CASK):c.1807-4A>T
|
|
|
NM_001367721.1(CASK):c.1816T>C (p.Ser606Pro)
|
|
|
NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala)
|
rs2065150872
|
|
NM_001367721.1(CASK):c.181C>T (p.Arg61Trp)
|
rs2147833182
|
|
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
|
|
|
NM_001367721.1(CASK):c.1842+6T>C
|
rs2147142062
|
|
NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)
|
rs2147138697
|
|
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)
|
|
|
NM_001367721.1(CASK):c.1880A>G (p.Lys627Arg)
|
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1912A>T (p.Ile638Phe)
|
|
|
NM_001367721.1(CASK):c.1916G>A (p.Arg639Gln)
|
|
|
NM_001367721.1(CASK):c.191G>A (p.Ser64Asn)
|
rs1556121425
|
|
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val)
|
rs1555980007
|
|
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
|
|
|
NM_001367721.1(CASK):c.1949G>A (p.Ser650Asn)
|
rs2147138480
|
|
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
|
|
|
NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)
|
|
|
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser)
|
rs587783358
|
|
NM_001367721.1(CASK):c.2042G>A (p.Arg681Gln)
|
rs2064965930
|
|
NM_001367721.1(CASK):c.2047G>A (p.Ala683Thr)
|
rs1162012524
|
|
NM_001367721.1(CASK):c.2047G>T (p.Ala683Ser)
|
|
|
NM_001367721.1(CASK):c.2076G>C (p.Gln692His)
|
|
|
NM_001367721.1(CASK):c.2090G>A (p.Ser697Asn)
|
|
|
NM_001367721.1(CASK):c.2113AAG[1] (p.Lys706del)
|
rs2147111902
|
|
NM_001367721.1(CASK):c.2126A>G (p.Lys709Arg)
|
rs2147111852
|
|
NM_001367721.1(CASK):c.2155+4_2155+6delinsA
|
rs752382791
|
|
NM_001367721.1(CASK):c.2155+5_2155+6del
|
|
|
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.2179A>C (p.Thr727Pro)
|
rs2147096327
|
|
NM_001367721.1(CASK):c.2190A>C (p.Glu730Asp)
|
|
|
NM_001367721.1(CASK):c.2192T>C (p.Val731Ala)
|
rs2064855229
|
|
NM_001367721.1(CASK):c.2224C>A (p.Leu742Ile)
|
rs2147096193
|
|
NM_001367721.1(CASK):c.2230T>G (p.Leu744Val)
|
rs2064854651
|
|
NM_001367721.1(CASK):c.2236+6T>G
|
|
|
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp)
|
rs1555975493
|
|
NM_001367721.1(CASK):c.2243A>G (p.His748Arg)
|
rs2064853222
|
|
NM_001367721.1(CASK):c.2248G>T (p.Val750Phe)
|
rs2147095961
|
|
NM_001367721.1(CASK):c.2277C>T (p.Leu759=)
|
rs758345399
|
|
NM_001367721.1(CASK):c.2288A>T (p.His763Leu)
|
|
|
NM_001367721.1(CASK):c.2295C>A (p.Asp765Glu)
|
|
|
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)
|
|
|
NM_001367721.1(CASK):c.2303C>T (p.Ala768Val)
|
rs2147095720
|
|
NM_001367721.1(CASK):c.2317+10G>C
|
rs797045432
|
|
NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu)
|
rs55642200
|
|
NM_001367721.1(CASK):c.2358G>T (p.Lys786Asn)
|
rs2064798017
|
|
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val)
|
rs2064797651
|
|
NM_001367721.1(CASK):c.2382C>G (p.Asp794Glu)
|
rs1348397781
|
|
NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg)
|
rs2147086271
|
|
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu)
|
rs1064795035
|
|
NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys)
|
rs1235769310
|
|
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln)
|
rs1235769310
|
|
NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)
|
|
|
NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)
|
|
|
NM_001367721.1(CASK):c.2449G>A (p.Gly817Arg)
|
|
|
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.2530G>T (p.Val844Phe)
|
rs2147067804
|
|
NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile)
|
rs2064675122
|
|
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)
|
|
|
NM_001367721.1(CASK):c.2572G>A (p.Ala858Thr)
|
|
|
NM_001367721.1(CASK):c.2573C>T (p.Ala858Val)
|
|
|
NM_001367721.1(CASK):c.2576C>T (p.Ala859Val)
|
|
|
NM_001367721.1(CASK):c.2604+3A>G
|
rs2147067529
|
|
NM_001367721.1(CASK):c.2604+5G>A
|
rs2064673944
|
|
NM_001367721.1(CASK):c.2629_2631del (p.Lys877del)
|
|
|
NM_001367721.1(CASK):c.2662C>T (p.His888Tyr)
|
rs2147059682
|
|
NM_001367721.1(CASK):c.2678C>A (p.Thr893Lys)
|
|
|
NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)
|
|
|
NM_001367721.1(CASK):c.269T>C (p.Val90Ala)
|
rs2147833052
|
|
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)
|
|
|
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
|
|
|
NM_001367721.1(CASK):c.2741G>A (p.Cys914Tyr)
|
|
|
NM_001367721.1(CASK):c.274G>A (p.Glu92Lys)
|
|
|
NM_001367721.1(CASK):c.2767T>A (p.Ser923Thr)
|
|
|
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)
|
|
|
NM_001367721.1(CASK):c.281T>C (p.Met94Thr)
|
rs2147736309
|
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NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
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|
|
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu)
|
rs2068673777
|
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NM_001367721.1(CASK):c.317G>A (p.Arg106Gln)
|
rs2147736164
|
|
NM_001367721.1(CASK):c.334G>A (p.Val112Met)
|
rs2147736091
|
|
NM_001367721.1(CASK):c.344A>T (p.Glu115Val)
|
rs886043662
|
|
NM_001367721.1(CASK):c.356+4T>A
|
rs2147736000
|
|
NM_001367721.1(CASK):c.357C>A (p.Ser119Arg)
|
|
|
NM_001367721.1(CASK):c.366G>A (p.Met122Ile)
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|
|
NM_001367721.1(CASK):c.418A>G (p.Arg140Gly)
|
rs2147718784
|
|
NM_001367721.1(CASK):c.421G>C (p.Asp141His)
|
|
|
NM_001367721.1(CASK):c.424G>A (p.Val142Met)
|
|
|
NM_001367721.1(CASK):c.429+4del
|
rs797045434
|
|
NM_001367721.1(CASK):c.430-4T>C
|
|
|
NM_001367721.1(CASK):c.430C>T (p.Pro144Ser)
|
rs2147495797
|
|
NM_001367721.1(CASK):c.434A>G (p.His145Arg)
|
rs2067197587
|
|
NM_001367721.1(CASK):c.493G>A (p.Val165Ile)
|
rs1057521754
|
|
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
|
|
|
NM_001367721.1(CASK):c.533-5T>G
|
rs2147479605
|
|
NM_001367721.1(CASK):c.536G>A (p.Arg179His)
|
|
|
NM_001367721.1(CASK):c.541G>A (p.Gly181Arg)
|
|
|
NM_001367721.1(CASK):c.550C>A (p.His184Asn)
|
rs2147479461
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001367721.1(CASK):c.55G>C (p.Gly19Arg)
|
|
|
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
|
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile)
|
rs1569379996
|
|
NM_001367721.1(CASK):c.589G>A (p.Gly197Arg)
|
rs2067100386
|
|
NM_001367721.1(CASK):c.596C>T (p.Pro199Leu)
|
rs1569379968
|
|
NM_001367721.1(CASK):c.60-3T>C
|
|
|
NM_001367721.1(CASK):c.601G>A (p.Asp201Asn)
|
|
|
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.62G>A (p.Gly21Asp)
|
rs2071299462
|
|
NM_001367721.1(CASK):c.62G>T (p.Gly21Val)
|
|
|
NM_001367721.1(CASK):c.689T>C (p.Ile230Thr)
|
|
|
NM_001367721.1(CASK):c.708+2dup
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser)
|
rs886043863
|
|
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp)
|
rs1556013344
|
|
NM_001367721.1(CASK):c.757G>C (p.Val253Leu)
|
|
|
NM_001367721.1(CASK):c.761G>A (p.Arg254His)
|
rs1569376084
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe)
|
rs2147465356
|
|
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)
|
rs137852817
|
|
NM_001367721.1(CASK):c.835C>T (p.Arg279Trp)
|
|
|
NM_001367721.1(CASK):c.836G>A (p.Arg279Gln)
|
rs2066559589
|
|
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr)
|
|
|
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr)
|
rs1012863843
|
|
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
|
|
|
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.92A>G (p.Asn31Ser)
|
|
|
NM_001367721.1(CASK):c.931G>A (p.Ala311Thr)
|
|
|
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr)
|
rs771426240
|
|
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly)
|
|
|