NM_001367721.1(CASK):c.1233+273C>A
|
rs12008943
|
0.59156
|
NM_001367721.1(CASK):c.2318-251A>C
|
rs2998250
|
0.44197
|
NM_001367721.1(CASK):c.533-99_533-84del
|
rs200400188
|
0.37651
|
NM_001367721.1(CASK):c.357-306A>C
|
rs2255067
|
0.16380
|
NM_001367721.1(CASK):c.2039+243A>G
|
rs5918201
|
0.15553
|
NM_001367721.1(CASK):c.1234-258C>G
|
rs5918206
|
0.14750
|
NM_001367721.1(CASK):c.2521-168G>A
|
rs113181574
|
0.10512
|
NM_001367721.1(CASK):c.2604+203G>A
|
rs5918194
|
0.10424
|
NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
NM_001367721.1(CASK):c.532+340G>A
|
rs73470574
|
0.08466
|
NM_001367721.1(CASK):c.279-107C>A
|
rs41305751
|
0.07641
|
NM_001367721.1(CASK):c.1842+41A>T
|
rs17144508
|
0.02804
|
NM_001367721.1(CASK):c.1234-22G>A
|
rs5963260
|
0.02684
|
NM_001367721.1(CASK):c.1234-30G>A
|
rs5964019
|
0.02683
|
NM_001367721.1(CASK):c.1504-269A>G
|
rs765674652
|
0.01040
|
NM_001367721.1(CASK):c.533-259C>T
|
rs142589819
|
0.00672
|
NM_001367721.1(CASK):c.2039+15G>A
|
rs41307351
|
0.00602
|
NM_001367721.1(CASK):c.2040-9A>G
|
rs138290714
|
0.00595
|
NM_001367721.1(CASK):c.363T>C (p.Tyr121=)
|
rs41431245
|
0.00591
|
NM_001367721.1(CASK):c.1503+37G>A
|
rs181530379
|
0.00590
|
NM_001367721.1(CASK):c.1843-84C>G
|
rs148958867
|
0.00586
|
NM_001367721.1(CASK):c.2318-47C>G
|
rs150078824
|
0.00571
|
NM_001367721.1(CASK):c.1583-168G>A
|
rs771680125
|
0.00487
|
NM_001367721.1(CASK):c.2155+267A>G
|
rs140283330
|
0.00484
|
NM_001367721.1(CASK):c.1738-252A>C
|
rs756635208
|
0.00480
|
NM_001367721.1(CASK):c.1843-179T>G
|
rs143633060
|
0.00480
|
NM_001367721.1(CASK):c.2040-236G>A
|
rs142870523
|
0.00480
|
NM_001367721.1(CASK):c.2604+71C>T
|
rs139933620
|
0.00467
|
NM_001367721.1(CASK):c.2604+210C>T
|
rs755946752
|
0.00464
|
NM_001367721.1(CASK):c.1125C>T (p.Phe375=)
|
rs141790702
|
0.00424
|
NM_001367721.1(CASK):c.356+229G>T
|
rs191769966
|
0.00349
|
NM_001367721.1(CASK):c.1233+18T>C
|
rs199794978
|
0.00230
|
NM_001367721.1(CASK):c.1314+18T>C
|
rs199729372
|
0.00195
|
NM_001367721.1(CASK):c.1504-15_1504-14insC
|
rs747923370
|
0.00110
|
NM_001367721.1(CASK):c.2521-162T>C
|
rs770930590
|
0.00086
|
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.1794C>T (p.Asn598=)
|
rs143991107
|
0.00072
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
NM_001367721.1(CASK):c.831+29A>G
|
rs150353415
|
0.00052
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001367721.1(CASK):c.600A>G (p.Val200=)
|
rs147738759
|
0.00024
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
NM_001367721.1(CASK):c.430-18G>A
|
rs372470833
|
0.00021
|
NM_001367721.1(CASK):c.1289G>A (p.Arg430His)
|
rs139731261
|
0.00020
|
NM_001367721.1(CASK):c.2040-17C>A
|
rs375693462
|
0.00020
|
NM_001367721.1(CASK):c.2409C>T (p.Asn803=)
|
rs375034853
|
0.00017
|
NM_001367721.1(CASK):c.1392C>T (p.Thr464=)
|
rs368007414
|
0.00015
|
NM_001367721.1(CASK):c.2172T>C (p.Asp724=)
|
rs199730401
|
0.00013
|
NM_001367721.1(CASK):c.2442G>A (p.Ala814=)
|
rs141158465
|
0.00013
|
NM_001367721.1(CASK):c.432C>T (p.Pro144=)
|
rs761142771
|
0.00012
|
NM_001367721.1(CASK):c.1234-15T>C
|
rs901933959
|
0.00011
|
NM_001367721.1(CASK):c.2433C>T (p.His811=)
|
rs371990384
|
0.00011
|
NM_001367721.1(CASK):c.916-15A>G
|
rs369866069
|
0.00011
|
NM_001367721.1(CASK):c.2175T>C (p.Leu725=)
|
rs757563548
|
0.00009
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
NM_001367721.1(CASK):c.1332C>T (p.His444=)
|
rs753172505
|
0.00007
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
NM_001367721.1(CASK):c.1860A>G (p.Gln620=)
|
rs773445513
|
0.00007
|
NM_001367721.1(CASK):c.2521-11T>C
|
rs774486148
|
0.00007
|
NM_001367721.1(CASK):c.832-11A>G
|
rs375613208
|
0.00007
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
NM_001367721.1(CASK):c.1503+15A>G
|
rs371792840
|
0.00006
|
NM_001367721.1(CASK):c.1806+20A>T
|
rs765060868
|
0.00006
|
NM_001367721.1(CASK):c.2670C>T (p.Phe890=)
|
rs773214246
|
0.00006
|
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)
|
rs759161435
|
0.00005
|
NM_001367721.1(CASK):c.1233+17A>C
|
rs376232002
|
0.00005
|
NM_001367721.1(CASK):c.1369T>C (p.Leu457=)
|
rs371870820
|
0.00005
|
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn)
|
rs201435578
|
0.00005
|
NM_001367721.1(CASK):c.1583-7T>G
|
rs778073677
|
0.00005
|
NM_001367721.1(CASK):c.1669-7C>A
|
rs780719523
|
0.00005
|
NM_001367721.1(CASK):c.195C>T (p.Ile65=)
|
rs769320891
|
0.00005
|
NM_001367721.1(CASK):c.2040-7G>A
|
rs778995428
|
0.00005
|
NM_001367721.1(CASK):c.42G>C (p.Leu14=)
|
rs377590077
|
0.00005
|
NM_001367721.1(CASK):c.582G>A (p.Glu194=)
|
rs774107615
|
0.00005
|
NM_001367721.1(CASK):c.974C>A (p.Pro325His)
|
rs760139497
|
0.00005
|
NM_001367721.1(CASK):c.996C>T (p.Ser332=)
|
rs768258764
|
0.00005
|
NM_001367721.1(CASK):c.-6C>T
|
rs200206294
|
0.00004
|
NM_001367721.1(CASK):c.1362T>C (p.Asp454=)
|
rs767743064
|
0.00004
|
NM_001367721.1(CASK):c.1431C>T (p.Asn477=)
|
rs375029309
|
0.00004
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
NM_001367721.1(CASK):c.430-19C>T
|
rs969094237
|
0.00004
|
NM_001367721.1(CASK):c.1005T>C (p.Pro335=)
|
rs756316223
|
0.00003
|
NM_001367721.1(CASK):c.1076C>T (p.Ala359Val)
|
rs762180439
|
0.00003
|
NM_001367721.1(CASK):c.1668+10T>C
|
rs751395675
|
0.00003
|
NM_001367721.1(CASK):c.1669-9C>A
|
rs562152407
|
0.00003
|
NM_001367721.1(CASK):c.1686T>C (p.Ser562=)
|
rs758121698
|
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.2508C>T (p.Asp836=)
|
rs375734729
|
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.1156-15T>G
|
rs754243369
|
0.00002
|
NM_001367721.1(CASK):c.1156-9G>A
|
rs756007664
|
0.00002
|
NM_001367721.1(CASK):c.1284A>G (p.Leu428=)
|
rs766113128
|
0.00002
|
NM_001367721.1(CASK):c.1302A>G (p.Gln434=)
|
rs764629370
|
0.00002
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
0.00002
|
NM_001367721.1(CASK):c.1503+18G>T
|
rs749424020
|
0.00002
|
NM_001367721.1(CASK):c.1669-18C>T
|
rs780590060
|
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.1836A>T (p.Gly612=)
|
rs746590337
|
0.00002
|
NM_001367721.1(CASK):c.2043A>T (p.Arg681=)
|
rs775058522
|
0.00002
|
NM_001367721.1(CASK):c.2058C>T (p.Ala686=)
|
rs759147602
|
0.00002
|
NM_001367721.1(CASK):c.2214G>T (p.Lys738Asn)
|
rs199765605
|
0.00002
|
NM_001367721.1(CASK):c.2343C>T (p.Asp781=)
|
rs55642200
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_001367721.1(CASK):c.2481C>T (p.His827=)
|
rs775353846
|
0.00002
|
NM_001367721.1(CASK):c.2511G>C (p.Val837=)
|
rs1434791938
|
0.00002
|
NM_001367721.1(CASK):c.2605-17A>G
|
rs1043525229
|
0.00002
|
NM_001367721.1(CASK):c.273C>T (p.Phe91=)
|
rs201151046
|
0.00002
|
NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala)
|
rs775963628
|
0.00002
|
NM_001367721.1(CASK):c.303T>C (p.Phe101=)
|
rs373431768
|
0.00002
|
NM_001367721.1(CASK):c.356+1848A>G
|
rs1177877017
|
0.00002
|
NM_001367721.1(CASK):c.429+20T>A
|
rs374770950
|
0.00002
|
NM_001367721.1(CASK):c.525A>G (p.Val175=)
|
rs755553171
|
0.00002
|
NM_001367721.1(CASK):c.59+9C>T
|
rs896692615
|
0.00002
|
NM_001367721.1(CASK):c.822A>G (p.Pro274=)
|
rs762045684
|
0.00002
|
NM_001367721.1(CASK):c.846C>T (p.Tyr282=)
|
rs886128077
|
0.00002
|
NM_001367721.1(CASK):c.897T>C (p.Asn299=)
|
rs1269708160
|
0.00002
|
NM_001367721.1(CASK):c.915+7T>C
|
rs1356026752
|
0.00002
|
NM_001367721.1(CASK):c.930C>T (p.Ala310=)
|
rs1379656104
|
0.00002
|
NM_001367721.1(CASK):c.1088G>A (p.Cys363Tyr)
|
rs771782394
|
0.00001
|
NM_001367721.1(CASK):c.1089C>T (p.Cys363=)
|
rs1438330953
|
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.1275A>G (p.Ala425=)
|
rs751182074
|
0.00001
|
NM_001367721.1(CASK):c.1288C>T (p.Arg430Cys)
|
rs149798861
|
0.00001
|
NM_001367721.1(CASK):c.132T>C (p.Asp44=)
|
rs1339799525
|
0.00001
|
NM_001367721.1(CASK):c.1368A>G (p.Ala456=)
|
rs1602292289
|
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.1473A>G (p.Val491=)
|
rs1376827941
|
0.00001
|
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly)
|
rs1409442804
|
0.00001
|
NM_001367721.1(CASK):c.1503+18G>C
|
rs749424020
|
0.00001
|
NM_001367721.1(CASK):c.1503+3A>G
|
rs1468715588
|
0.00001
|
NM_001367721.1(CASK):c.1536T>C (p.His512=)
|
rs771205895
|
0.00001
|
NM_001367721.1(CASK):c.1551A>G (p.Arg517=)
|
rs1233438856
|
0.00001
|
NM_001367721.1(CASK):c.1563G>A (p.Gly521=)
|
rs754977685
|
0.00001
|
NM_001367721.1(CASK):c.1578G>A (p.Arg526=)
|
rs1161745194
|
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.1669-6C>A
|
rs751447120
|
0.00001
|
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser)
|
rs900079494
|
0.00001
|
NM_001367721.1(CASK):c.175C>T (p.Leu59=)
|
rs1349847248
|
0.00001
|
NM_001367721.1(CASK):c.1777G>C (p.Gly593Arg)
|
rs780588221
|
0.00001
|
NM_001367721.1(CASK):c.177A>G (p.Leu59=)
|
rs772801010
|
0.00001
|
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val)
|
rs1168108458
|
0.00001
|
NM_001367721.1(CASK):c.2019T>G (p.Pro673=)
|
rs546044640
|
0.00001
|
NM_001367721.1(CASK):c.2048C>T (p.Ala683Val)
|
rs767030499
|
0.00001
|
NM_001367721.1(CASK):c.2142A>T (p.Ala714=)
|
rs1189958976
|
0.00001
|
NM_001367721.1(CASK):c.2155+4G>A
|
rs749155089
|
0.00001
|
NM_001367721.1(CASK):c.2184T>C (p.Tyr728=)
|
rs754192141
|
0.00001
|
NM_001367721.1(CASK):c.2227G>C (p.Val743Leu)
|
rs759074946
|
0.00001
|
NM_001367721.1(CASK):c.2304G>A (p.Ala768=)
|
rs754678428
|
0.00001
|
NM_001367721.1(CASK):c.2317+20C>T
|
rs749939463
|
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.2486A>G (p.Gln829Arg)
|
rs759736132
|
0.00001
|
NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu)
|
rs774433205
|
0.00001
|
NM_001367721.1(CASK):c.2490G>A (p.Gly830=)
|
rs1430650230
|
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.2520+10A>G
|
rs1203498268
|
0.00001
|
NM_001367721.1(CASK):c.2520+19G>A
|
rs765293367
|
0.00001
|
NM_001367721.1(CASK):c.2526G>A (p.Leu842=)
|
rs1202482149
|
0.00001
|
NM_001367721.1(CASK):c.2588C>T (p.Thr863Ile)
|
rs966502877
|
0.00001
|
NM_001367721.1(CASK):c.2589T>A (p.Thr863=)
|
rs367611761
|
0.00001
|
NM_001367721.1(CASK):c.2605-12A>G
|
rs767308275
|
0.00001
|
NM_001367721.1(CASK):c.2621G>A (p.Arg874His)
|
rs754713652
|
0.00001
|
NM_001367721.1(CASK):c.2656T>C (p.Tyr886His)
|
rs763204661
|
0.00001
|
NM_001367721.1(CASK):c.2680A>G (p.Ile894Val)
|
rs1318022389
|
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.387A>G (p.Leu129=)
|
rs754059801
|
0.00001
|
NM_001367721.1(CASK):c.390C>T (p.Arg130=)
|
rs143067717
|
0.00001
|
NM_001367721.1(CASK):c.430-20T>C
|
rs1422319113
|
0.00001
|
NM_001367721.1(CASK):c.45C>T (p.Cys15=)
|
rs776956039
|
0.00001
|
NM_001367721.1(CASK):c.524T>C (p.Val175Ala)
|
rs781247892
|
0.00001
|
NM_001367721.1(CASK):c.60-20A>G
|
rs370922411
|
0.00001
|
NM_001367721.1(CASK):c.60-9del
|
rs1265096228
|
0.00001
|
NM_001367721.1(CASK):c.656T>C (p.Phe219Ser)
|
rs1189980578
|
0.00001
|
NM_001367721.1(CASK):c.660C>T (p.Tyr220=)
|
rs747587301
|
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.832-18A>G
|
rs1171294061
|
0.00001
|
NM_001367721.1(CASK):c.909A>G (p.Lys303=)
|
rs754529242
|
0.00001
|
NM_001367721.1(CASK):c.925C>T (p.Leu309=)
|
rs773085471
|
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:41485589-41486197)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2
|
|
|
GRCh37/hg19 Xp11.4(chrX:41700325-41826061)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41708906-41713659)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41708911-41713656)x1
|
|
|
GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1
|
|
|
GRCh38/hg38 Xp11.4(chrX:41736613-41807412)x2
|
|
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:41787211-41795764)x1
|
|
|
NC_000023.10:g.(?_41379673)_(41420907_?)dup
|
|
|
NC_000023.10:g.(?_41387096)_(41396627_?)del
|
|
|
NC_000023.10:g.(?_41393939)_(41420917_?)dup
|
|
|
NC_000023.10:g.(?_41401924)_(41416373_?)del
|
|
|
NC_000023.10:g.(?_41412952)_(41429019_?)del
|
|
|
NC_000023.10:g.(?_41428901)_(41429019_?)del
|
|
|
NC_000023.10:g.(?_41446140)_(41446260_?)del
|
|
|
NC_000023.10:g.(?_41446140)_(41530803_?)dup
|
|
|
NC_000023.10:g.(?_41598617)_(41604874_?)del
|
|
|
NC_000023.10:g.(?_41712348)_(41782241_?)del
|
|
|
NC_000023.10:g.(?_41712348)_(41782241_?)dup
|
|
|
NC_000023.11:g.(41853228_41922929)(41923555_?)del
|
|
|
NC_000023.11:g.(?_41520400)_(41665472_?)dup
|
|
|
NC_000023.11:g.(?_41853095)_(41853247_?)del
|
|
|
NC_000023.11:g.41506506_41542250del
|
|
|
NM_001367721.1(CASK):c.*1317G>A
|
|
|
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001367721.1(CASK):c.1015+1G>A
|
|
|
NM_001367721.1(CASK):c.1015+1G>C
|
rs1569350501
|
|
NM_001367721.1(CASK):c.1016-20A>G
|
|
|
NM_001367721.1(CASK):c.1016-247dup
|
rs970144546
|
|
NM_001367721.1(CASK):c.1016-8C>T
|
|
|
NM_001367721.1(CASK):c.1023A>T (p.Leu341=)
|
|
|
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val)
|
rs2066303451
|
|
NM_001367721.1(CASK):c.1033+1G>A
|
rs1556000257
|
|
NM_001367721.1(CASK):c.1033+7A>G
|
|
|
NM_001367721.1(CASK):c.1034-16T>C
|
|
|
NM_001367721.1(CASK):c.1034-5del
|
rs2147279583
|
|
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.1065A>G (p.Glu355=)
|
|
|
NM_001367721.1(CASK):c.1081A>G (p.Thr361Ala)
|
|
|
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile)
|
|
|
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly)
|
rs2147279282
|
|
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter)
|
rs1556254569
|
|
NM_001367721.1(CASK):c.1101C>T (p.Asp367=)
|
|
|
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.1149A>G (p.Leu383=)
|
rs2066019067
|
|
NM_001367721.1(CASK):c.1155+1G>T
|
|
|
NM_001367721.1(CASK):c.1155+2dup
|
|
|
NM_001367721.1(CASK):c.1155+9G>A
|
|
|
NM_001367721.1(CASK):c.1156-7T>C
|
|
|
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His)
|
|
|
NM_001367721.1(CASK):c.1160A>G (p.Tyr387Cys)
|
rs2065713058
|
|
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu)
|
rs2147231422
|
|
NM_001367721.1(CASK):c.1186C>G (p.Pro396Ala)
|
|
|
NM_001367721.1(CASK):c.1189C>T (p.Gln397Ter)
|
|
|
NM_001367721.1(CASK):c.1192A>T (p.Ile398Phe)
|
|
|
NM_001367721.1(CASK):c.1195A>G (p.Arg399Gly)
|
rs1364511514
|
|
NM_001367721.1(CASK):c.1195del (p.Arg399fs)
|
rs1555989338
|
|
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.1233+10A>G
|
|
|
NM_001367721.1(CASK):c.1233+8A>G
|
|
|
NM_001367721.1(CASK):c.1234-20A>G
|
rs377163161
|
|
NM_001367721.1(CASK):c.1234-3dup
|
|
|
NM_001367721.1(CASK):c.1234-8T>C
|
rs2147224470
|
|
NM_001367721.1(CASK):c.1234-9del
|
|
|
NM_001367721.1(CASK):c.1236A>G (p.Val412=)
|
|
|
NM_001367721.1(CASK):c.1238T>C (p.Leu413Ser)
|
rs2147224451
|
|
NM_001367721.1(CASK):c.1241A>C (p.Glu414Ala)
|
|
|
NM_001367721.1(CASK):c.1251A>G (p.Ser417=)
|
|
|
NM_001367721.1(CASK):c.1253G>A (p.Cys418Tyr)
|
|
|
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
|
|
|
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+20C>A
|
|
|
NM_001367721.1(CASK):c.1314+3A>G
|
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
NM_001367721.1(CASK):c.1315-1G>A
|
|
|
NM_001367721.1(CASK):c.1315-7A>G
|
rs1555986221
|
|
NM_001367721.1(CASK):c.1315G>A (p.Ala439Thr)
|
|
|
NM_001367721.1(CASK):c.1326G>A (p.Gln442=)
|
rs972663928
|
|
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn)
|
rs2065516822
|
|
NM_001367721.1(CASK):c.1335C>T (p.Asp445=)
|
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
NM_001367721.1(CASK):c.1386T>C (p.Pro462=)
|
|
|
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.1419A>C (p.Pro473=)
|
|
|
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile)
|
rs2147201250
|
|
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.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001367721.1(CASK):c.1469del (p.Leu490fs)
|
|
|
NM_001367721.1(CASK):c.1480C>T (p.Gln494Ter)
|
rs1064796879
|
|
NM_001367721.1(CASK):c.1487A>C (p.Asn496Thr)
|
|
|
NM_001367721.1(CASK):c.1501A>G (p.Met501Val)
|
rs2065513776
|
|
NM_001367721.1(CASK):c.1503+17A>C
|
|
|
NM_001367721.1(CASK):c.1504-12T>A
|
|
|
NM_001367721.1(CASK):c.1504-17T>C
|
|
|
NM_001367721.1(CASK):c.1504-252_1504-243del
|
rs1176936000
|
|
NM_001367721.1(CASK):c.1504-2A>C
|
rs1057524485
|
|
NM_001367721.1(CASK):c.1504-5A>G
|
|
|
NM_001367721.1(CASK):c.1504-6T>A
|
rs767346232
|
|
NM_001367721.1(CASK):c.1504-6del
|
rs749321162
|
|
NM_001367721.1(CASK):c.1504-6dup
|
rs749321162
|
|
NM_001367721.1(CASK):c.1504-7_1504-6dup
|
|
|
NM_001367721.1(CASK):c.1504-97G>A
|
|
|
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg)
|
rs2147179382
|
|
NM_001367721.1(CASK):c.1508del (p.Ile503fs)
|
rs2065379291
|
|
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
|
|
|
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.1560T>C (p.His520=)
|
|
|
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val)
|
rs2065377974
|
|
NM_001367721.1(CASK):c.1565dup (p.Met523fs)
|
|
|
NM_001367721.1(CASK):c.1578del (p.Arg526fs)
|
rs2065377881
|
|
NM_001367721.1(CASK):c.1579C>T (p.Gln527Ter)
|
rs2065377688
|
|
NM_001367721.1(CASK):c.1582+12A>G
|
|
|
NM_001367721.1(CASK):c.1582+1G>A
|
rs2147179060
|
|
NM_001367721.1(CASK):c.1582+3A>T
|
rs2147179049
|
|
NM_001367721.1(CASK):c.1582G>A (p.Gly528Ser)
|
rs1057517923
|
|
NM_001367721.1(CASK):c.1583-10_1583-8del
|
rs1173176043
|
|
NM_001367721.1(CASK):c.1583-14A>G
|
|
|
NM_001367721.1(CASK):c.1583-1G>T
|
|
|
NM_001367721.1(CASK):c.1586C>A (p.Thr529Lys)
|
rs755515289
|
|
NM_001367721.1(CASK):c.1592A>C (p.His531Pro)
|
rs1555981722
|
|
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.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1619A>G (p.Asn540Ser)
|
|
|
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.1643C>G (p.Thr548Arg)
|
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
NM_001367721.1(CASK):c.1647G>A (p.Val549=)
|
rs2147155788
|
|
NM_001367721.1(CASK):c.1650A>G (p.Glu550=)
|
|
|
NM_001367721.1(CASK):c.1652_1655dup (p.Gln553fs)
|
rs2147155759
|
|
NM_001367721.1(CASK):c.1663del (p.Met555fs)
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
NM_001367721.1(CASK):c.1668+11G>T
|
|
|
NM_001367721.1(CASK):c.1668+5G>A
|
|
|
NM_001367721.1(CASK):c.1669-5T>A
|
rs187065810
|
|
NM_001367721.1(CASK):c.1669-5T>C
|
rs187065810
|
|
NM_001367721.1(CASK):c.1669-6del
|
rs746809939
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
NM_001367721.1(CASK):c.1669-7C>T
|
rs780719523
|
|
NM_001367721.1(CASK):c.1669-8C>T
|
|
|
NM_001367721.1(CASK):c.166A>G (p.Thr56Ala)
|
|
|
NM_001367721.1(CASK):c.1678C>T (p.Arg560Trp)
|
|
|
NM_001367721.1(CASK):c.1680G>A (p.Arg560=)
|
|
|
NM_001367721.1(CASK):c.1683dup (p.Ser562fs)
|
rs2147151260
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
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+277del
|
rs751945206
|
|
NM_001367721.1(CASK):c.172+5_172+6delinsAT
|
|
|
NM_001367721.1(CASK):c.1721A>G (p.Gln574Arg)
|
|
|
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu)
|
rs2065202221
|
|
NM_001367721.1(CASK):c.1728G>A (p.Ser576=)
|
|
|
NM_001367721.1(CASK):c.173-12T>C
|
|
|
NM_001367721.1(CASK):c.173-15A>G
|
rs2147833265
|
|
NM_001367721.1(CASK):c.173-17G>A
|
|
|
NM_001367721.1(CASK):c.173-1G>A
|
|
|
NM_001367721.1(CASK):c.173-1G>T
|
rs2147833223
|
|
NM_001367721.1(CASK):c.173-268del
|
rs778064917
|
|
NM_001367721.1(CASK):c.173-268dup
|
rs778064917
|
|
NM_001367721.1(CASK):c.1737+11dup
|
|
|
NM_001367721.1(CASK):c.1737+17A>G
|
|
|
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.1804T>G (p.Ser602Ala)
|
|
|
NM_001367721.1(CASK):c.1806+17dup
|
|
|
NM_001367721.1(CASK):c.1806+7A>G
|
|
|
NM_001367721.1(CASK):c.1806G>A (p.Ser602=)
|
|
|
NM_001367721.1(CASK):c.1807-12T>C
|
|
|
NM_001367721.1(CASK):c.1807-292del
|
rs11307594
|
|
NM_001367721.1(CASK):c.1807-4A>T
|
|
|
NM_001367721.1(CASK):c.180G>A (p.Lys60=)
|
|
|
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
|
|
|
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.1824C>T (p.Thr608=)
|
|
|
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr)
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
NM_001367721.1(CASK):c.1842+18A>G
|
|
|
NM_001367721.1(CASK):c.1842+6T>C
|
rs2147142062
|
|
NM_001367721.1(CASK):c.1843-17G>A
|
|
|
NM_001367721.1(CASK):c.1843-18C>T
|
|
|
NM_001367721.1(CASK):c.1843-2A>T
|
rs2065129964
|
|
NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)
|
rs2147138697
|
|
NM_001367721.1(CASK):c.184del (p.Glu62fs)
|
rs1556121448
|
|
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)
|
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
NM_001367721.1(CASK):c.1880A>G (p.Lys627Arg)
|
|
|
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr)
|
rs2065129571
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1912A>T (p.Ile638Phe)
|
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1916G>A (p.Arg639Gln)
|
|
|
NM_001367721.1(CASK):c.191G>A (p.Ser64Asn)
|
rs1556121425
|
|
NM_001367721.1(CASK):c.1921A>C (p.Arg641=)
|
rs2147138543
|
|
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.1959T>C (p.Asp653=)
|
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001367721.1(CASK):c.1972C>T (p.Gln658Ter)
|
rs2147138406
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.1980A>G (p.Lys660=)
|
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
|
|
|
NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)
|
|
|
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.1A>T (p.Met1Leu)
|
rs1556313516
|
|
NM_001367721.1(CASK):c.2016T>C (p.Ile672=)
|
rs1602253437
|
|
NM_001367721.1(CASK):c.2018C>T (p.Pro673Leu)
|
rs1057523820
|
|
NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)
|
|
|
NM_001367721.1(CASK):c.2039+14C>T
|
|
|
NM_001367721.1(CASK):c.2039+16T>C
|
|
|
NM_001367721.1(CASK):c.2039+1G>A
|
rs2147138207
|
|
NM_001367721.1(CASK):c.2039+1del
|
|
|
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser)
|
rs587783358
|
|
NM_001367721.1(CASK):c.2040-1G>A
|
rs1555977269
|
|
NM_001367721.1(CASK):c.2040-2A>G
|
rs2147112134
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
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.2064G>A (p.Glu688=)
|
rs2064965345
|
|
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter)
|
rs1555977248
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.2076G>C (p.Gln692His)
|
|
|
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
|
|
|
NM_001367721.1(CASK):c.2090G>A (p.Ser697Asn)
|
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter)
|
rs886039702
|
|
NM_001367721.1(CASK):c.2113AAG[1] (p.Lys706del)
|
rs2147111902
|
|
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)
|
rs1569295677
|
|
NM_001367721.1(CASK):c.2121G>A (p.Gln707=)
|
|
|
NM_001367721.1(CASK):c.2126A>G (p.Lys709Arg)
|
rs2147111852
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.2138T>A (p.Leu713Ter)
|
rs2147111812
|
|
NM_001367721.1(CASK):c.2155+19G>C
|
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
NM_001367721.1(CASK):c.2155+2T>C
|
rs1555977195
|
|
NM_001367721.1(CASK):c.2155+4_2155+6delinsA
|
rs752382791
|
|
NM_001367721.1(CASK):c.2155+5_2155+6del
|
|
|
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)
|
rs12842195
|
|
NM_001367721.1(CASK):c.2156-1G>A
|
rs1569291261
|
|
NM_001367721.1(CASK):c.2156-40T>A
|
rs41310661
|
|
NM_001367721.1(CASK):c.2156-4_2156-3delinsAAAACGCAAAGTGTTTTAGTTTTTAGTGTTTAGTTAAAACACTAA
|
rs2147096402
|
|
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
|
|
|
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.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.2190A>C (p.Glu730Asp)
|
|
|
NM_001367721.1(CASK):c.2191GTA[1] (p.Val732del)
|
rs1064796488
|
|
NM_001367721.1(CASK):c.2192T>C (p.Val731Ala)
|
rs2064855229
|
|
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg)
|
rs587783363
|
|
NM_001367721.1(CASK):c.21dup (p.Phe8fs)
|
rs1556313509
|
|
NM_001367721.1(CASK):c.2213A>C (p.Lys738Thr)
|
|
|
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.2233T>C (p.Leu745=)
|
|
|
NM_001367721.1(CASK):c.2236+11T>C
|
|
|
NM_001367721.1(CASK):c.2236+13G>C
|
|
|
NM_001367721.1(CASK):c.2236+1delinsAT
|
rs1555975523
|
|
NM_001367721.1(CASK):c.2236+6T>G
|
|
|
NM_001367721.1(CASK):c.2237-12T>G
|
|
|
NM_001367721.1(CASK):c.2237-2A>G
|
rs2147095994
|
|
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.2252_2253del (p.Gly751fs)
|
rs2147095950
|
|
NM_001367721.1(CASK):c.225A>G (p.Val75=)
|
rs2147833101
|
|
NM_001367721.1(CASK):c.2270dup (p.Asn757fs)
|
rs886041645
|
|
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.2317+14C>T
|
|
|
NM_001367721.1(CASK):c.2317+1G>A
|
rs1555975458
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001367721.1(CASK):c.2318-10G>A
|
|
|
NM_001367721.1(CASK):c.2318-11C>T
|
rs2147086584
|
|
NM_001367721.1(CASK):c.2318-12G>T
|
|
|
NM_001367721.1(CASK):c.2318-16C>T
|
|
|
NM_001367721.1(CASK):c.2318-2A>G
|
rs863224854
|
|
NM_001367721.1(CASK):c.231A>G (p.Leu77=)
|
rs2147833081
|
|
NM_001367721.1(CASK):c.232T>C (p.Leu78=)
|
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu)
|
rs55642200
|
|
NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter)
|
rs746017736
|
|
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.2383C>T (p.Gln795Ter)
|
rs1057518245
|
|
NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg)
|
rs2147086271
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu)
|
rs1064795035
|
|
NM_001367721.1(CASK):c.2425G>A (p.Gly809Ser)
|
rs1064796884
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
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.2440del (p.Ala814fs)
|
|
|
NM_001367721.1(CASK):c.2442G>T (p.Ala814=)
|
|
|
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.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr)
|
rs1569288273
|
|
NM_001367721.1(CASK):c.2505G>A (p.Leu835=)
|
|
|
NM_001367721.1(CASK):c.2520+1427A>G
|
|
|
NM_001367721.1(CASK):c.2520+1468G>A
|
|
|
NM_001367721.1(CASK):c.2520+8C>T
|
|
|
NM_001367721.1(CASK):c.2521-10C>T
|
rs200525472
|
|
NM_001367721.1(CASK):c.2521-10_2521-8del
|
rs1602207858
|
|
NM_001367721.1(CASK):c.2521-11dup
|
rs199560653
|
|
NM_001367721.1(CASK):c.2521-2A>G
|
rs398122845
|
|
NM_001367721.1(CASK):c.2521-2A>T
|
rs398122845
|
|
NM_001367721.1(CASK):c.2521-6A>G
|
|
|
NM_001367721.1(CASK):c.2527A>T (p.Lys843Ter)
|
rs886039651
|
|
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.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile)
|
|
|
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)
|
rs1569283243
|
|
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val)
|
rs2147067640
|
|
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.2589T>G (p.Thr863=)
|
rs367611761
|
|
NM_001367721.1(CASK):c.2604+1G>T
|
rs1555972599
|
|
NM_001367721.1(CASK):c.2604+20T>C
|
|
|
NM_001367721.1(CASK):c.2604+3A>G
|
rs2147067529
|
|
NM_001367721.1(CASK):c.2604+5G>A
|
rs2064673944
|
|
NM_001367721.1(CASK):c.2604+7A>C
|
rs1602207587
|
|
NM_001367721.1(CASK):c.2605-14del
|
|
|
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
|
|
|
NM_001367721.1(CASK):c.2629_2631del (p.Lys877del)
|
|
|
NM_001367721.1(CASK):c.2634G>A (p.Glu878=)
|
|
|
NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter)
|
rs886041306
|
|
NM_001367721.1(CASK):c.2647C>T (p.Gln883Ter)
|
|
|
NM_001367721.1(CASK):c.2658T>C (p.Tyr886=)
|
|
|
NM_001367721.1(CASK):c.2662C>T (p.His888Tyr)
|
rs2147059682
|
|
NM_001367721.1(CASK):c.2668T>G (p.Phe890Val)
|
|
|
NM_001367721.1(CASK):c.2676C>G (p.Leu892=)
|
|
|
NM_001367721.1(CASK):c.2678C>A (p.Thr893Lys)
|
|
|
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
|
|
|
NM_001367721.1(CASK):c.2679A>G (p.Thr893=)
|
rs2147059621
|
|
NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)
|
|
|
NM_001367721.1(CASK):c.2688C>T (p.Asn896=)
|
|
|
NM_001367721.1(CASK):c.2691T>G (p.Asn897Lys)
|
|
|
NM_001367721.1(CASK):c.269T>C (p.Val90Ala)
|
rs2147833052
|
|
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)
|
|
|
NM_001367721.1(CASK):c.2718G>A (p.Leu906=)
|
|
|
NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)
|
|
|
NM_001367721.1(CASK):c.2736C>T (p.Leu912=)
|
|
|
NM_001367721.1(CASK):c.2741G>A (p.Cys914Tyr)
|
|
|
NM_001367721.1(CASK):c.274G>A (p.Glu92Lys)
|
|
|
NM_001367721.1(CASK):c.2751A>G (p.Pro917=)
|
|
|
NM_001367721.1(CASK):c.2754G>A (p.Gln918=)
|
|
|
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg)
|
rs137852819
|
|
NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter)
|
rs1555971887
|
|
NM_001367721.1(CASK):c.2767T>A (p.Ser923Thr)
|
|
|
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)
|
|
|
NM_001367721.1(CASK):c.278+10dup
|
rs2147833014
|
|
NM_001367721.1(CASK):c.278+276C>A
|
rs5963276
|
|
NM_001367721.1(CASK):c.278+2_278+3del
|
|
|
NM_001367721.1(CASK):c.2781G>A (p.Ter927=)
|
|
|
NM_001367721.1(CASK):c.281T>C (p.Met94Thr)
|
rs2147736309
|
|
NM_001367721.1(CASK):c.282G>A (p.Met94Ile)
|
|
|
NM_001367721.1(CASK):c.285_288del (p.Asp95fs)
|
rs1602560972
|
|
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu)
|
rs2068673777
|
|
NM_001367721.1(CASK):c.29_30dup (p.Val11fs)
|
rs2148116120
|
|
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly)
|
rs1569429756
|
|
NM_001367721.1(CASK):c.309C>T (p.Ile103=)
|
|
|
NM_001367721.1(CASK):c.315G>A (p.Lys105=)
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.317G>A (p.Arg106Gln)
|
rs2147736164
|
|
NM_001367721.1(CASK):c.324C>T (p.Asp108=)
|
|
|
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.348T>A (p.Ala116=)
|
|
|
NM_001367721.1(CASK):c.356+16C>T
|
|
|
NM_001367721.1(CASK):c.356+18A>G
|
|
|
NM_001367721.1(CASK):c.356+1G>T
|
rs2147736023
|
|
NM_001367721.1(CASK):c.356+4T>A
|
rs2147736000
|
|
NM_001367721.1(CASK):c.357C>A (p.Ser119Arg)
|
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
NM_001367721.1(CASK):c.366G>A (p.Met122Ile)
|
|
|
NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter)
|
rs1021128001
|
|
NM_001367721.1(CASK):c.372G>A (p.Gln124=)
|
rs1162518702
|
|
NM_001367721.1(CASK):c.376C>T (p.Leu126=)
|
rs2068558301
|
|
NM_001367721.1(CASK):c.37G>T (p.Glu13Ter)
|
rs769965673
|
|
NM_001367721.1(CASK):c.38_39del (p.Glu13fs)
|
|
|
NM_001367721.1(CASK):c.408C>T (p.Asn136=)
|
rs1602550603
|
|
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+16T>C
|
rs1374134585
|
|
NM_001367721.1(CASK):c.429+1G>A
|
rs886041153
|
|
NM_001367721.1(CASK):c.429+4del
|
rs797045434
|
|
NM_001367721.1(CASK):c.429+8A>C
|
|
|
NM_001367721.1(CASK):c.430-14G>A
|
|
|
NM_001367721.1(CASK):c.430-27_430-20del
|
rs200962618
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
NM_001367721.1(CASK):c.430-31TGTT[2]
|
rs200962618
|
|
NM_001367721.1(CASK):c.430-31TGTT[4]
|
|
|
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.437G>A (p.Cys146Tyr)
|
rs2067197487
|
|
NM_001367721.1(CASK):c.457_461del (p.Glu153fs)
|
|
|
NM_001367721.1(CASK):c.462C>T (p.Asn154=)
|
|
|
NM_001367721.1(CASK):c.465G>A (p.Ser155=)
|
|
|
NM_001367721.1(CASK):c.486C>T (p.Gly162=)
|
|
|
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu)
|
rs2147495667
|
|
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
|
rs2067197219
|
|
NM_001367721.1(CASK):c.493G>A (p.Val165Ile)
|
rs1057521754
|
|
NM_001367721.1(CASK):c.493G>C (p.Val165Leu)
|
rs1057521754
|
|
NM_001367721.1(CASK):c.496G>C (p.Ala166Pro)
|
rs1556016347
|
|
NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)
|
|
|
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)
|
rs2147495562
|
|
NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)
|
|
|
NM_001367721.1(CASK):c.510G>A (p.Gly170=)
|
|
|
NM_001367721.1(CASK):c.523dup (p.Val175fs)
|
rs886041284
|
|
NM_001367721.1(CASK):c.532+114C>A
|
rs149954887
|
|
NM_001367721.1(CASK):c.532+13T>C
|
|
|
NM_001367721.1(CASK):c.532+25dup
|
rs199561120
|
|
NM_001367721.1(CASK):c.532+2T>C
|
|
|
NM_001367721.1(CASK):c.533-10T>G
|
|
|
NM_001367721.1(CASK):c.533-15T>C
|
|
|
NM_001367721.1(CASK):c.533-2A>G
|
rs1569380062
|
|
NM_001367721.1(CASK):c.533-5T>G
|
rs2147479605
|
|
NM_001367721.1(CASK):c.534A>G (p.Gly178=)
|
rs1602431697
|
|
NM_001367721.1(CASK):c.536G>A (p.Arg179His)
|
|
|
NM_001367721.1(CASK):c.541G>A (p.Gly181Arg)
|
|
|
NM_001367721.1(CASK):c.543_548delinsTCCTACATAAATGACGTAGGTG (p.Thr182_Pro183delinsProThrTer)
|
rs1602431663
|
|
NM_001367721.1(CASK):c.546A>T (p.Thr182=)
|
rs1569380048
|
|
NM_001367721.1(CASK):c.549T>C (p.Pro183=)
|
rs2147479482
|
|
NM_001367721.1(CASK):c.54C>T (p.Ile18=)
|
rs2148116044
|
|
NM_001367721.1(CASK):c.550C>A (p.His184Asn)
|
rs2147479461
|
|
NM_001367721.1(CASK):c.553_565del (p.Phe185fs)
|
rs1556014805
|
|
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg)
|
rs727503840
|
|
NM_001367721.1(CASK):c.55G>C (p.Gly19Arg)
|
|
|
NM_001367721.1(CASK):c.561A>C (p.Ala187=)
|
|
|
NM_001367721.1(CASK):c.564A>T (p.Pro188=)
|
|
|
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.588C>G (p.Tyr196Ter)
|
rs1008303488
|
|
NM_001367721.1(CASK):c.588C>T (p.Tyr196=)
|
|
|
NM_001367721.1(CASK):c.589G>A (p.Gly197Arg)
|
rs2067100386
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.59+15G>C
|
|
|
NM_001367721.1(CASK):c.59+2T>C
|
rs1064796344
|
|
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.608G>A (p.Trp203Ter)
|
|
|
NM_001367721.1(CASK):c.609G>A (p.Trp203Ter)
|
rs886039474
|
|
NM_001367721.1(CASK):c.612G>C (p.Gly204=)
|
|
|
NM_001367721.1(CASK):c.612G>T (p.Gly204=)
|
rs761992730
|
|
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.62G>A (p.Gly21Asp)
|
rs2071299462
|
|
NM_001367721.1(CASK):c.62G>T (p.Gly21Val)
|
|
|
NM_001367721.1(CASK):c.660C>G (p.Tyr220Ter)
|
rs747587301
|
|
NM_001367721.1(CASK):c.684A>G (p.Glu228=)
|
rs2147478951
|
|
NM_001367721.1(CASK):c.689T>C (p.Ile230Thr)
|
|
|
NM_001367721.1(CASK):c.68del (p.Phe23fs)
|
rs1135401762
|
|
NM_001367721.1(CASK):c.69C>T (p.Phe23=)
|
rs2147971599
|
|
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
|
|
|
NM_001367721.1(CASK):c.708+16C>T
|
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.708+2dup
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.709-6C>T
|
|
|
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser)
|
rs886043863
|
|
NM_001367721.1(CASK):c.721C>T (p.Gln241Ter)
|
rs2067016341
|
|
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)
|
rs2067016221
|
|
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.763C>T (p.Arg255Cys)
|
rs1064794937
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.771G>A (p.Leu257=)
|
rs1602424892
|
|
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.793A>T (p.Ile265Phe)
|
rs2147465356
|
|
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)
|
|
|
NM_001367721.1(CASK):c.798T>G (p.Thr266=)
|
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)
|
rs137852817
|
|
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.831+18G>T
|
|
|
NM_001367721.1(CASK):c.832-19T>G
|
|
|
NM_001367721.1(CASK):c.832-4A>G
|
|
|
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.83G>T (p.Arg28Leu)
|
rs137852816
|
|
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter)
|
rs1556004104
|
|
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.847G>A (p.Ala283Thr)
|
rs1012863843
|
|
NM_001367721.1(CASK):c.875_877del (p.Val292del)
|
rs2066559023
|
|
NM_001367721.1(CASK):c.876A>C (p.Val292=)
|
rs2147368237
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
|
|
|
NM_001367721.1(CASK):c.885G>A (p.Leu295=)
|
|
|
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.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001367721.1(CASK):c.915+829A>G
|
|
|
NM_001367721.1(CASK):c.915G>A (p.Lys305=)
|
rs387906499
|
|
NM_001367721.1(CASK):c.916-17T>C
|
rs2147336997
|
|
NM_001367721.1(CASK):c.916-1G>A
|
rs2066382876
|
|
NM_001367721.1(CASK):c.916-3dup
|
rs1602371669
|
|
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.938C>G (p.Ser313Ter)
|
rs2147336769
|
|
NM_001367721.1(CASK):c.948A>G (p.Lys316=)
|
rs376360424
|
|
NM_001367721.1(CASK):c.951C>T (p.Phe317=)
|
rs2147336684
|
|
NM_001367721.1(CASK):c.957A>G (p.Ser319=)
|
|
|
NM_001367721.1(CASK):c.972C>T (p.Pro324=)
|
|
|
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr)
|
rs771426240
|
|
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly)
|
|
|
NM_003688.3:c.116_117delCA
|
|
|
Single allele
|
|
|