NM_001367721.1(CASK):c.1034-6C>T
|
rs73470569
|
0.09241
|
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.1125C>T (p.Phe375=)
|
rs141790702
|
0.00424
|
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.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.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.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.996C>T (p.Ser332=)
|
rs768258764
|
0.00005
|
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.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.303T>C (p.Phe101=)
|
rs373431768
|
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.1089C>T (p.Cys363=)
|
rs1438330953
|
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.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.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.2410G>A (p.Glu804Lys)
|
rs751235198
|
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.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.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.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
|
NC_000023.10:g.(?_41379673)_(41420907_?)dup
|
|
|
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.(?_41520400)_(41665472_?)dup
|
|
|
NC_000023.11:g.(?_41853095)_(41853247_?)del
|
|
|
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001367721.1(CASK):c.1016-20A>G
|
|
|
NM_001367721.1(CASK):c.1016-8C>T
|
|
|
NM_001367721.1(CASK):c.1023A>T (p.Leu341=)
|
|
|
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.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.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+2dup
|
|
|
NM_001367721.1(CASK):c.1155+9G>A
|
|
|
NM_001367721.1(CASK):c.1156-7T>C
|
|
|
NM_001367721.1(CASK):c.1160A>G (p.Tyr387Cys)
|
rs2065713058
|
|
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.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.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.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.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.1386T>C (p.Pro462=)
|
|
|
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)
|
rs1021774904
|
|
NM_001367721.1(CASK):c.1419A>C (p.Pro473=)
|
|
|
NM_001367721.1(CASK):c.1438A>T (p.Met480Leu)
|
rs2065514700
|
|
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.1503+17A>C
|
|
|
NM_001367721.1(CASK):c.1504-12T>A
|
|
|
NM_001367721.1(CASK):c.1504-17T>C
|
|
|
NM_001367721.1(CASK):c.1504-6del
|
rs749321162
|
|
NM_001367721.1(CASK):c.1504-6dup
|
rs749321162
|
|
NM_001367721.1(CASK):c.1504-7_1504-6dup
|
|
|
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.1560T>C (p.His520=)
|
|
|
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val)
|
rs2065377974
|
|
NM_001367721.1(CASK):c.1578del (p.Arg526fs)
|
rs2065377881
|
|
NM_001367721.1(CASK):c.1582+12A>G
|
|
|
NM_001367721.1(CASK):c.1583-10_1583-8del
|
rs1173176043
|
|
NM_001367721.1(CASK):c.1583-14A>G
|
|
|
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.1619A>G (p.Asn540Ser)
|
|
|
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)
|
rs1569306724
|
|
NM_001367721.1(CASK):c.1643C>G (p.Thr548Arg)
|
|
|
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.1668+11G>T
|
|
|
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.1715G>A (p.Arg572His)
|
|
|
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.1737+11dup
|
|
|
NM_001367721.1(CASK):c.1737+17A>G
|
|
|
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.1807-4A>T
|
|
|
NM_001367721.1(CASK):c.180G>A (p.Lys60=)
|
|
|
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.1843-17G>A
|
|
|
NM_001367721.1(CASK):c.1843-18C>T
|
|
|
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.1921A>C (p.Arg641=)
|
rs2147138543
|
|
NM_001367721.1(CASK):c.1949G>A (p.Ser650Asn)
|
rs2147138480
|
|
NM_001367721.1(CASK):c.1959T>C (p.Asp653=)
|
|
|
NM_001367721.1(CASK):c.1980A>G (p.Lys660=)
|
|
|
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp)
|
|
|
NM_001367721.1(CASK):c.2016T>C (p.Ile672=)
|
rs1602253437
|
|
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.2040-2A>G
|
rs2147112134
|
|
NM_001367721.1(CASK):c.2042G>A (p.Arg681Gln)
|
rs2064965930
|
|
NM_001367721.1(CASK):c.2047G>T (p.Ala683Ser)
|
|
|
NM_001367721.1(CASK):c.2064G>A (p.Glu688=)
|
rs2064965345
|
|
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.2121G>A (p.Gln707=)
|
|
|
NM_001367721.1(CASK):c.2126A>G (p.Lys709Arg)
|
rs2147111852
|
|
NM_001367721.1(CASK):c.2138T>A (p.Leu713Ter)
|
rs2147111812
|
|
NM_001367721.1(CASK):c.2155+19G>C
|
|
|
NM_001367721.1(CASK):c.2155+5_2155+6del
|
|
|
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.2213A>C (p.Lys738Thr)
|
|
|
NM_001367721.1(CASK):c.2224C>A (p.Leu742Ile)
|
rs2147096193
|
|
NM_001367721.1(CASK):c.2236+11T>C
|
|
|
NM_001367721.1(CASK):c.2236+13G>C
|
|
|
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.2243A>G (p.His748Arg)
|
rs2064853222
|
|
NM_001367721.1(CASK):c.225A>G (p.Val75=)
|
rs2147833101
|
|
NM_001367721.1(CASK):c.2277C>T (p.Leu759=)
|
rs758345399
|
|
NM_001367721.1(CASK):c.2288A>T (p.His763Leu)
|
|
|
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+14C>T
|
|
|
NM_001367721.1(CASK):c.2317+1G>A
|
rs1555975458
|
|
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.231A>G (p.Leu77=)
|
rs2147833081
|
|
NM_001367721.1(CASK):c.232T>C (p.Leu78=)
|
|
|
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.2382C>G (p.Asp794Glu)
|
rs1348397781
|
|
NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg)
|
rs2147086271
|
|
NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys)
|
rs1235769310
|
|
NM_001367721.1(CASK):c.2442G>T (p.Ala814=)
|
|
|
NM_001367721.1(CASK):c.2444T>A (p.Met815Lys)
|
|
|
NM_001367721.1(CASK):c.2449G>A (p.Gly817Arg)
|
|
|
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+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.2540C>T (p.Thr847Ile)
|
rs2064675122
|
|
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+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.2605-14del
|
|
|
NM_001367721.1(CASK):c.2634G>A (p.Glu878=)
|
|
|
NM_001367721.1(CASK):c.2647C>T (p.Gln883Ter)
|
|
|
NM_001367721.1(CASK):c.2658T>C (p.Tyr886=)
|
|
|
NM_001367721.1(CASK):c.2668T>G (p.Phe890Val)
|
|
|
NM_001367721.1(CASK):c.2676C>G (p.Leu892=)
|
|
|
NM_001367721.1(CASK):c.2679A>G (p.Thr893=)
|
rs2147059621
|
|
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.2718G>A (p.Leu906=)
|
|
|
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.2767T>A (p.Ser923Thr)
|
|
|
NM_001367721.1(CASK):c.278+10dup
|
rs2147833014
|
|
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.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+4T>A
|
rs2147736000
|
|
NM_001367721.1(CASK):c.366G>A (p.Met122Ile)
|
|
|
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.408C>T (p.Asn136=)
|
rs1602550603
|
|
NM_001367721.1(CASK):c.424G>A (p.Val142Met)
|
|
|
NM_001367721.1(CASK):c.429+16T>C
|
rs1374134585
|
|
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.430-31TGTT[2]
|
rs200962618
|
|
NM_001367721.1(CASK):c.430-31TGTT[4]
|
|
|
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.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.493G>A (p.Val165Ile)
|
rs1057521754
|
|
NM_001367721.1(CASK):c.510G>A (p.Gly170=)
|
|
|
NM_001367721.1(CASK):c.532+13T>C
|
|
|
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.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.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.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.588C>T (p.Tyr196=)
|
|
|
NM_001367721.1(CASK):c.589G>A (p.Gly197Arg)
|
rs2067100386
|
|
NM_001367721.1(CASK):c.59+15G>C
|
|
|
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.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.62G>A (p.Gly21Asp)
|
rs2071299462
|
|
NM_001367721.1(CASK):c.62G>T (p.Gly21Val)
|
|
|
NM_001367721.1(CASK):c.684A>G (p.Glu228=)
|
rs2147478951
|
|
NM_001367721.1(CASK):c.689T>C (p.Ile230Thr)
|
|
|
NM_001367721.1(CASK):c.69C>T (p.Phe23=)
|
rs2147971599
|
|
NM_001367721.1(CASK):c.708+16C>T
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.709-6C>T
|
|
|
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.771G>A (p.Leu257=)
|
rs1602424892
|
|
NM_001367721.1(CASK):c.798T>G (p.Thr266=)
|
|
|
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)
|
rs137852817
|
|
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.847G>A (p.Ala283Thr)
|
rs1012863843
|
|
NM_001367721.1(CASK):c.876A>C (p.Val292=)
|
rs2147368237
|
|
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.916-17T>C
|
rs2147336997
|
|
NM_001367721.1(CASK):c.916-3dup
|
rs1602371669
|
|
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.989A>G (p.Asp330Gly)
|
|
|