ClinVar Miner

List of variants in gene CASK

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 765
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HGVS dbSNP gnomAD frequency
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

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