ClinVar Miner

List of variants in gene CASK reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 459
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HGVS dbSNP gnomAD frequency
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)

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