ClinVar Miner

List of variants in gene CWC27 reported by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_005869.4(CWC27):c.139+3_139+4insAATTATGAC rs140062546 0.52488
NM_005869.4(CWC27):c.766C>G (p.Pro256Ala) rs7735338 0.36716
NM_005869.4(CWC27):c.749+16G>T rs6449760 0.35599
NM_005869.4(CWC27):c.1108T>C (p.Leu370=) rs2278351 0.27610
NM_005869.4(CWC27):c.1042+7G>A rs73105301 0.01166
NM_005869.4(CWC27):c.1074C>G (p.Ala358=) rs58322956 0.00892
NM_005869.4(CWC27):c.670-20A>C rs10062054 0.00889
NM_005869.4(CWC27):c.670-6T>C rs10055003 0.00888
NM_005869.4(CWC27):c.1042+18G>A rs114182066 0.00487
NM_005869.4(CWC27):c.764C>A (p.Ala255Glu) rs140266671 0.00156
NM_005869.4(CWC27):c.1153-17T>C rs181922845 0.00130
NM_005869.4(CWC27):c.1042+17C>T rs201575731 0.00123
NM_005869.4(CWC27):c.750-18T>G rs201763486 0.00114
NM_005869.4(CWC27):c.457G>A (p.Glu153Lys) rs114765726 0.00086
NM_005869.4(CWC27):c.939-3T>C rs140088358 0.00071
NM_005869.4(CWC27):c.1098G>A (p.Lys366=) rs143676351 0.00059
NM_005869.4(CWC27):c.496-14del rs543492497 0.00046
NM_005869.4(CWC27):c.1043-9A>G rs373054518 0.00033
NM_005869.4(CWC27):c.121A>G (p.Ile41Val) rs201232840 0.00025
NM_005869.4(CWC27):c.253-18A>C rs759616532 0.00024
NM_005869.4(CWC27):c.1240G>C (p.Glu414Gln) rs139204212 0.00022
NM_005869.4(CWC27):c.1042+5G>A rs373435795 0.00020
NM_005869.4(CWC27):c.884C>T (p.Ala295Val) rs149929520 0.00016
NM_005869.4(CWC27):c.1075G>A (p.Glu359Lys) rs140490454 0.00014
NM_005869.4(CWC27):c.100C>A (p.Pro34Thr) rs141974787 0.00013
NM_005869.4(CWC27):c.920A>T (p.Lys307Met) rs141017155 0.00012
NM_005869.4(CWC27):c.49T>C (p.Leu17=) rs369814947 0.00011
NM_005869.4(CWC27):c.143A>G (p.Tyr48Cys) rs370593428 0.00010
NM_005869.4(CWC27):c.867A>T (p.Leu289Phe) rs140234898 0.00009
NM_005869.4(CWC27):c.1412G>A (p.Arg471Lys) rs779259350 0.00008
NM_005869.4(CWC27):c.973C>T (p.Arg325Trp) rs763896931 0.00008
NM_005869.4(CWC27):c.1236A>T (p.Glu412Asp) rs150642131 0.00007
NM_005869.4(CWC27):c.328G>A (p.Gly110Ser) rs566171437 0.00007
NM_005869.4(CWC27):c.495+4G>C rs371394386 0.00007
NM_005869.4(CWC27):c.1152+2T>A rs747658761 0.00006
NM_005869.4(CWC27):c.397-16A>G rs553627965 0.00006
NM_005869.4(CWC27):c.43G>A (p.Val15Ile) rs376182212 0.00006
NM_005869.4(CWC27):c.236A>G (p.Tyr79Cys) rs373067401 0.00005
NM_005869.4(CWC27):c.275G>A (p.Arg92His) rs568150813 0.00005
NM_005869.4(CWC27):c.1179A>G (p.Lys393=) rs746957963 0.00004
NM_005869.4(CWC27):c.1257-7del rs745904241 0.00004
NM_005869.4(CWC27):c.304G>A (p.Ala102Thr) rs752677043 0.00004
NM_005869.4(CWC27):c.353G>T (p.Gly118Val) rs199984122 0.00004
NM_005869.4(CWC27):c.1004T>G (p.Val335Gly) rs199774142 0.00003
NM_005869.4(CWC27):c.1006G>A (p.Glu336Lys) rs371261961 0.00003
NM_005869.4(CWC27):c.1141C>T (p.Arg381Trp) rs993330713 0.00003
NM_005869.4(CWC27):c.1259T>A (p.Met420Lys) rs754149136 0.00003
NM_005869.4(CWC27):c.140-13A>T rs543303233 0.00003
NM_005869.4(CWC27):c.196G>A (p.Gly66Arg) rs753398778 0.00003
NM_005869.4(CWC27):c.238G>A (p.Gly80Arg) rs1377145480 0.00003
NM_005869.4(CWC27):c.243G>A (p.Ala81=) rs753031106 0.00003
NM_005869.4(CWC27):c.253-8_253-7insTAAATTCACTAA rs1436871578 0.00003
NM_005869.4(CWC27):c.301A>G (p.Met101Val) rs375560494 0.00003
NM_005869.4(CWC27):c.372C>G (p.Asn124Lys) rs762125859 0.00003
NM_005869.4(CWC27):c.396+5G>T rs764988150 0.00003
NM_005869.4(CWC27):c.495G>A (p.Glu165=) rs1085307446 0.00003
NM_005869.4(CWC27):c.750-4A>G rs544771443 0.00003
NM_005869.4(CWC27):c.974G>A (p.Arg325Gln) rs751408756 0.00003
NM_005869.4(CWC27):c.1066G>C (p.Ala356Pro) rs751813292 0.00002
NM_005869.4(CWC27):c.1142G>A (p.Arg381Gln) rs754601012 0.00002
NM_005869.4(CWC27):c.1153-7A>G rs374796210 0.00002
NM_005869.4(CWC27):c.1156dup (p.Leu386fs) rs1372091680 0.00002
NM_005869.4(CWC27):c.242C>T (p.Ala81Val) rs765721927 0.00002
NM_005869.4(CWC27):c.265T>C (p.Ser89Pro) rs138235746 0.00002
NM_005869.4(CWC27):c.274C>T (p.Arg92Cys) rs377331761 0.00002
NM_005869.4(CWC27):c.284G>A (p.Arg95Gln) rs370669132 0.00002
NM_005869.4(CWC27):c.496-13T>C rs1041122061 0.00002
NM_005869.4(CWC27):c.496-19G>A rs773933685 0.00002
NM_005869.4(CWC27):c.588C>G (p.Pro196=) rs768370175 0.00002
NM_005869.4(CWC27):c.615T>G (p.Leu205=) rs1580599461 0.00002
NM_005869.4(CWC27):c.701A>T (p.Asp234Val) rs1158015032 0.00002
NM_005869.4(CWC27):c.721C>T (p.His241Tyr) rs774608229 0.00002
NM_005869.4(CWC27):c.816T>C (p.Tyr272=) rs771390228 0.00002
NM_005869.4(CWC27):c.935G>A (p.Arg312His) rs775866124 0.00002
NM_005869.4(CWC27):c.1017A>G (p.Ala339=) rs1318434572 0.00001
NM_005869.4(CWC27):c.1033A>C (p.Arg345=) rs952945840 0.00001
NM_005869.4(CWC27):c.1042+10T>C rs774144494 0.00001
NM_005869.4(CWC27):c.1047A>G (p.Glu349=) rs376501189 0.00001
NM_005869.4(CWC27):c.1081A>G (p.Arg361Gly) rs773025110 0.00001
NM_005869.4(CWC27):c.1095A>G (p.Gln365=) rs753998969 0.00001
NM_005869.4(CWC27):c.1101T>C (p.Tyr367=) rs927473472 0.00001
NM_005869.4(CWC27):c.1120C>T (p.Gln374Ter) rs752016886 0.00001
NM_005869.4(CWC27):c.1151A>G (p.Gln384Arg) rs1271477717 0.00001
NM_005869.4(CWC27):c.1170C>G (p.Asn390Lys) rs1420687442 0.00001
NM_005869.4(CWC27):c.1189A>G (p.Thr397Ala) rs770801324 0.00001
NM_005869.4(CWC27):c.1208C>T (p.Thr403Met) rs769957094 0.00001
NM_005869.4(CWC27):c.1225C>A (p.Pro409Thr) rs774515994 0.00001
NM_005869.4(CWC27):c.1244A>T (p.Asp415Val) rs750797592 0.00001
NM_005869.4(CWC27):c.1257-14C>G rs139437313 0.00001
NM_005869.4(CWC27):c.1257-6A>G rs761018388 0.00001
NM_005869.4(CWC27):c.1257G>T (p.Trp419Cys) rs960559538 0.00001
NM_005869.4(CWC27):c.1349G>A (p.Arg450Gln) rs1355065474 0.00001
NM_005869.4(CWC27):c.1375G>A (p.Glu459Lys) rs190561984 0.00001
NM_005869.4(CWC27):c.139+18C>A rs1580576759 0.00001
NM_005869.4(CWC27):c.140-13del rs1265353328 0.00001
NM_005869.4(CWC27):c.151A>C (p.Asn51His) rs1368981497 0.00001
NM_005869.4(CWC27):c.175C>T (p.Pro59Ser) rs745426383 0.00001
NM_005869.4(CWC27):c.202C>T (p.Pro68Ser) rs532275928 0.00001
NM_005869.4(CWC27):c.207T>A (p.Thr69=) rs1743710958 0.00001
NM_005869.4(CWC27):c.235T>A (p.Tyr79Asn) rs776705210 0.00001
NM_005869.4(CWC27):c.250A>G (p.Lys84Glu) rs1444332691 0.00001
NM_005869.4(CWC27):c.252+1G>A rs1468432566 0.00001
NM_005869.4(CWC27):c.255T>A (p.Asp85Glu) rs1433799113 0.00001
NM_005869.4(CWC27):c.268C>T (p.Arg90Trp) rs1238819839 0.00001
NM_005869.4(CWC27):c.281A>C (p.Asn94Thr) rs753319511 0.00001
NM_005869.4(CWC27):c.326A>G (p.Asn109Ser) rs777723083 0.00001
NM_005869.4(CWC27):c.330C>T (p.Gly110=) rs771085707 0.00001
NM_005869.4(CWC27):c.355C>T (p.Arg119Ter) rs1186944777 0.00001
NM_005869.4(CWC27):c.396+10C>T rs752194798 0.00001
NM_005869.4(CWC27):c.396+6T>C rs1743794348 0.00001
NM_005869.4(CWC27):c.427C>T (p.Arg143Ter) rs773382223 0.00001
NM_005869.4(CWC27):c.432G>A (p.Leu144=) rs764747161 0.00001
NM_005869.4(CWC27):c.449A>G (p.Asp150Gly) rs764172645 0.00001
NM_005869.4(CWC27):c.456C>T (p.Asp152=) rs373443413 0.00001
NM_005869.4(CWC27):c.466C>T (p.His156Tyr) rs1239709056 0.00001
NM_005869.4(CWC27):c.481A>G (p.Ile161Val) rs989567504 0.00001
NM_005869.4(CWC27):c.484A>G (p.Lys162Glu) rs1323531999 0.00001
NM_005869.4(CWC27):c.495+15A>G rs1411793658 0.00001
NM_005869.4(CWC27):c.495+19C>T rs201304417 0.00001
NM_005869.4(CWC27):c.496-6T>C rs566960044 0.00001
NM_005869.4(CWC27):c.501G>A (p.Leu167=) rs1288539540 0.00001
NM_005869.4(CWC27):c.599+10G>C rs1209051606 0.00001
NM_005869.4(CWC27):c.599+19T>C rs773003447 0.00001
NM_005869.4(CWC27):c.599+9A>C rs1743897150 0.00001
NM_005869.4(CWC27):c.600-11T>C rs1228651995 0.00001
NM_005869.4(CWC27):c.600-5A>G rs752002823 0.00001
NM_005869.4(CWC27):c.608G>A (p.Ser203Asn) rs757774900 0.00001
NM_005869.4(CWC27):c.661G>C (p.Val221Leu) rs1349372664 0.00001
NM_005869.4(CWC27):c.669+10A>G rs760618747 0.00001
NM_005869.4(CWC27):c.669+17C>T rs759294605 0.00001
NM_005869.4(CWC27):c.670-10T>C rs1744441205 0.00001
NM_005869.4(CWC27):c.706C>G (p.Leu236Val) rs1744443476 0.00001
NM_005869.4(CWC27):c.71T>C (p.Ile24Thr) rs781194080 0.00001
NM_005869.4(CWC27):c.723T>C (p.His241=) rs1216281500 0.00001
NM_005869.4(CWC27):c.733G>C (p.Val245Leu) rs147540109 0.00001
NM_005869.4(CWC27):c.749+12G>A rs186642683 0.00001
NM_005869.4(CWC27):c.749+18A>G rs746570217 0.00001
NM_005869.4(CWC27):c.749+1G>T rs182274413 0.00001
NM_005869.4(CWC27):c.749+7C>T rs757408332 0.00001
NM_005869.4(CWC27):c.749+9A>G rs766658991 0.00001
NM_005869.4(CWC27):c.781-10A>G rs1321083689 0.00001
NM_005869.4(CWC27):c.781-8T>C rs774781868 0.00001
NM_005869.4(CWC27):c.796A>G (p.Ser266Gly) rs1318855120 0.00001
NM_005869.4(CWC27):c.797G>A (p.Ser266Asn) rs1744581925 0.00001
NM_005869.4(CWC27):c.825T>C (p.Gly275=) rs759880526 0.00001
NM_005869.4(CWC27):c.841A>T (p.Met281Leu) rs915193174 0.00001
NM_005869.4(CWC27):c.845G>C (p.Arg282Thr) rs200712636 0.00001
NM_005869.4(CWC27):c.936C>T (p.Arg312=) rs34570664 0.00001
NM_005869.4(CWC27):c.938+2T>C rs767210188 0.00001
NM_005869.4(CWC27):c.969A>G (p.Leu323=) rs1243794421 0.00001
NM_005869.4(CWC27):c.988G>A (p.Ala330Thr) rs767839264 0.00001
NM_005869.4(CWC27):c.99T>C (p.Ala33=) rs929067484 0.00001
NC_000005.9:g.(?_64064974)_(64100233_?)del
NC_000005.9:g.(?_64064974)_(64181393_?)del
NC_000005.9:g.(?_64064974)_(64181393_?)dup
NC_000005.9:g.(?_64064974)_(64314148_?)dup
NC_000005.9:g.(?_64077728)_(64096174_?)del
NC_000005.9:g.(?_64077833)_(64174102_?)del
NC_000005.9:g.(?_64096055)_(64100233_?)del
NC_000005.9:g.(?_64267510)_(64273085_?)dup
NM_005869.4(CWC27):c.1002del (p.Lys334_Val335insTer) rs752159903
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_005869.4(CWC27):c.1004T>C (p.Val335Ala) rs199774142
NM_005869.4(CWC27):c.100C>T (p.Pro34Ser) rs141974787
NM_005869.4(CWC27):c.1011T>C (p.Asn337=) rs779263001
NM_005869.4(CWC27):c.1017A>C (p.Ala339=)
NM_005869.4(CWC27):c.1022A>G (p.Gln341Arg) rs1394338447
NM_005869.4(CWC27):c.1033A>G (p.Arg345Gly) rs952945840
NM_005869.4(CWC27):c.1033dup (p.Arg345fs) rs1259976736
NM_005869.4(CWC27):c.1034G>C (p.Arg345Thr)
NM_005869.4(CWC27):c.1038T>C (p.Ser346=) rs1355405400
NM_005869.4(CWC27):c.1042+11T>C rs1747050336
NM_005869.4(CWC27):c.1042+20T>G rs1252180471
NM_005869.4(CWC27):c.1042+4del rs2112343581
NM_005869.4(CWC27):c.1042G>A (p.Glu348Lys) rs775170127
NM_005869.4(CWC27):c.1043-16T>A rs2112442321
NM_005869.4(CWC27):c.1043-16T>C rs2112442321
NM_005869.4(CWC27):c.1065T>C (p.Gly355=) rs2531523235
NM_005869.4(CWC27):c.1066_1070del (p.Ala356fs) rs2112442370
NM_005869.4(CWC27):c.1074C>T (p.Ala358=) rs58322956
NM_005869.4(CWC27):c.1101T>G (p.Tyr367Ter) rs927473472
NM_005869.4(CWC27):c.1116G>C (p.Lys372Asn) rs2531523357
NM_005869.4(CWC27):c.1152+5C>T rs2531523464
NM_005869.4(CWC27):c.1153-14A>G rs1458117694
NM_005869.4(CWC27):c.1153-1G>C rs2531530527
NM_005869.4(CWC27):c.1156del (p.Ala387fs) rs1372091680
NM_005869.4(CWC27):c.1164G>A (p.Leu388=) rs946932381
NM_005869.4(CWC27):c.1168A>G (p.Asn390Asp) rs367948278
NM_005869.4(CWC27):c.1187T>G (p.Leu396Arg) rs2112446938
NM_005869.4(CWC27):c.1209G>A (p.Thr403=) rs1309581
NM_005869.4(CWC27):c.1209G>T (p.Thr403=) rs1309581
NM_005869.4(CWC27):c.120dup (p.Ile41fs) rs2531243592
NM_005869.4(CWC27):c.121A>C (p.Ile41Leu) rs201232840
NM_005869.4(CWC27):c.1226C>T (p.Pro409Leu) rs2112446989
NM_005869.4(CWC27):c.1256+18T>C rs1749243820
NM_005869.4(CWC27):c.1256+19G>A rs1561176956
NM_005869.4(CWC27):c.1256+7G>C rs1474719330
NM_005869.4(CWC27):c.1257-15T>C rs2112479065
NM_005869.4(CWC27):c.1291A>G (p.Arg431Gly) rs1253121747
NM_005869.4(CWC27):c.1299G>A (p.Val433=) rs751118155
NM_005869.4(CWC27):c.129T>C (p.Leu43=) rs1260666125
NM_005869.4(CWC27):c.1303G>C (p.Asp435His) rs2112479101
NM_005869.4(CWC27):c.1312A>G (p.Met438Val) rs1381774438
NM_005869.4(CWC27):c.1353T>C (p.Asn451=) rs1750085260
NM_005869.4(CWC27):c.1365A>G (p.Lys455=) rs2112479160
NM_005869.4(CWC27):c.1371G>A (p.Arg457=) rs1226881605
NM_005869.4(CWC27):c.1376A>G (p.Glu459Gly) rs780017251
NM_005869.4(CWC27):c.139+13T>C rs1267513694
NM_005869.4(CWC27):c.139+3_139+4insAATTATGA rs762917044
NM_005869.4(CWC27):c.1392G>C (p.Leu464=) rs2531581494
NM_005869.4(CWC27):c.1395G>A (p.Met465Ile) rs1176419157
NM_005869.4(CWC27):c.140-4del rs200915173
NM_005869.4(CWC27):c.140-4dup rs200915173
NM_005869.4(CWC27):c.1401G>C (p.Glu467Asp) rs1238654872
NM_005869.4(CWC27):c.1403A>G (p.Lys468Arg) rs1441494129
NM_005869.4(CWC27):c.1407A>G (p.Lys469=) rs913053373
NM_005869.4(CWC27):c.1407_1411del (p.Glu470fs) rs2531581543
NM_005869.4(CWC27):c.1407del (p.Glu470fs)
NM_005869.4(CWC27):c.140C>A (p.Ala47Asp) rs368081814
NM_005869.4(CWC27):c.189C>G (p.Val63=) rs1443869672
NM_005869.4(CWC27):c.195C>T (p.Gly65=) rs749180749
NM_005869.4(CWC27):c.203C>T (p.Pro68Leu) rs1743710379
NM_005869.4(CWC27):c.212C>A (p.Thr71Lys) rs2112161150
NM_005869.4(CWC27):c.225dup (p.Glu76fs) rs2112161191
NM_005869.4(CWC27):c.252+4del rs1200215248
NM_005869.4(CWC27):c.252+9G>A rs2112161353
NM_005869.4(CWC27):c.253-8C>T rs2112165600
NM_005869.4(CWC27):c.289G>A (p.Gly97Arg) rs2531260921
NM_005869.4(CWC27):c.299C>T (p.Ala100Val) rs2112165858
NM_005869.4(CWC27):c.309T>C (p.Asn103=) rs2531261009
NM_005869.4(CWC27):c.326del (p.Asn109fs) rs1300583921
NM_005869.4(CWC27):c.327T>C (p.Asn109=) rs2531261098
NM_005869.4(CWC27):c.355C>G (p.Arg119Gly) rs1186944777
NM_005869.4(CWC27):c.377A>G (p.Lys126Arg) rs2531261271
NM_005869.4(CWC27):c.396+10C>G rs752194798
NM_005869.4(CWC27):c.396+11A>G rs1580591733
NM_005869.4(CWC27):c.396+19T>C rs2531261374
NM_005869.4(CWC27):c.396+8T>G
NM_005869.4(CWC27):c.397-12T>C rs2531264405
NM_005869.4(CWC27):c.397-19T>C
NM_005869.4(CWC27):c.405G>T (p.Gly135=) rs774808999
NM_005869.4(CWC27):c.413T>C (p.Val138Ala) rs1743849689
NM_005869.4(CWC27):c.414A>G (p.Val138=) rs762134607
NM_005869.4(CWC27):c.43-18G>T rs1743378434
NM_005869.4(CWC27):c.438A>G (p.Glu146=)
NM_005869.4(CWC27):c.449A>T (p.Asp150Val) rs764172645
NM_005869.4(CWC27):c.461G>A (p.Arg154Lys) rs2531264728
NM_005869.4(CWC27):c.471T>C (p.Asn157=) rs2112170031
NM_005869.4(CWC27):c.476A>T (p.His159Leu) rs368541156
NM_005869.4(CWC27):c.479A>G (p.Lys160Arg) rs2531264803
NM_005869.4(CWC27):c.495+20G>A rs755029729
NM_005869.4(CWC27):c.495+8C>A
NM_005869.4(CWC27):c.496-14A>G rs761827503
NM_005869.4(CWC27):c.496-14A>T rs761827503
NM_005869.4(CWC27):c.496-20C>T
NM_005869.4(CWC27):c.496-4A>G rs1228190267
NM_005869.4(CWC27):c.496-6del rs770043078
NM_005869.4(CWC27):c.509C>T (p.Pro170Leu) rs2531267138
NM_005869.4(CWC27):c.517G>C (p.Asp173His) rs1245861359
NM_005869.4(CWC27):c.528A>T (p.Pro176=) rs1743893357
NM_005869.4(CWC27):c.532G>A (p.Glu178Lys) rs1254062289
NM_005869.4(CWC27):c.53A>G (p.Lys18Arg) rs1743379298
NM_005869.4(CWC27):c.543G>C (p.Arg181Ser) rs758974228
NM_005869.4(CWC27):c.543G>T (p.Arg181Ser) rs758974228
NM_005869.4(CWC27):c.556A>G (p.Lys186Glu) rs2531267383
NM_005869.4(CWC27):c.564G>A (p.Glu188=) rs1580596049
NM_005869.4(CWC27):c.56C>G (p.Thr19Ser) rs1743379463
NM_005869.4(CWC27):c.593G>T (p.Gly198Val) rs1265838133
NM_005869.4(CWC27):c.599+11T>C rs1249678258
NM_005869.4(CWC27):c.599+7A>G rs1285840342
NM_005869.4(CWC27):c.600-16C>G rs758381011
NM_005869.4(CWC27):c.600-21_600-17del rs756661798
NM_005869.4(CWC27):c.600-8del rs748484202
NM_005869.4(CWC27):c.600-8dup rs748484202
NM_005869.4(CWC27):c.600-9_606del rs2531272296
NM_005869.4(CWC27):c.606del (p.Phe202fs) rs777801764
NM_005869.4(CWC27):c.60A>C (p.Thr20=) rs1012208400
NM_005869.4(CWC27):c.657T>A (p.Asn219Lys) rs1743982482
NM_005869.4(CWC27):c.660A>G (p.Arg220=) rs2112178501
NM_005869.4(CWC27):c.669+18_669+25del rs369020972
NM_005869.4(CWC27):c.670-15G>T rs746482182
NM_005869.4(CWC27):c.670-8C>A rs2531290047
NM_005869.4(CWC27):c.674T>C (p.Met225Thr) rs776523899
NM_005869.4(CWC27):c.676A>T (p.Lys226Ter)
NM_005869.4(CWC27):c.716A>G (p.Asp239Gly) rs1744443819
NM_005869.4(CWC27):c.727A>G (p.Ser243Gly) rs1744444341
NM_005869.4(CWC27):c.738A>G (p.Pro246=)
NM_005869.4(CWC27):c.744A>G (p.Val248=) rs1244219308
NM_005869.4(CWC27):c.749+10T>C rs2531290278
NM_005869.4(CWC27):c.749+11T>C rs754180319
NM_005869.4(CWC27):c.750-19T>G
NM_005869.4(CWC27):c.750-3T>C rs191441227
NM_005869.4(CWC27):c.750-5dup rs771898756
NM_005869.4(CWC27):c.750-7T>C rs2112207843
NM_005869.4(CWC27):c.755A>C (p.Lys252Thr)
NM_005869.4(CWC27):c.756del (p.Gly253fs) rs2112207891
NM_005869.4(CWC27):c.757G>A (p.Gly253Ser) rs1173698643
NM_005869.4(CWC27):c.762T>C (p.Asp254=) rs2531292073
NM_005869.4(CWC27):c.763G>A (p.Ala255Thr) rs2531292079
NM_005869.4(CWC27):c.76A>C (p.Ile26Leu) rs2112143355
NM_005869.4(CWC27):c.77_78del (p.Ile26fs) rs1743380522
NM_005869.4(CWC27):c.780+17G>T rs551752076
NM_005869.4(CWC27):c.780+18T>C rs2531292217
NM_005869.4(CWC27):c.780T>G (p.Asp260Glu) rs1744478053
NM_005869.4(CWC27):c.781-13dup rs760410222
NM_005869.4(CWC27):c.784G>A (p.Gly262Arg) rs748387936
NM_005869.4(CWC27):c.790G>A (p.Asp264Asn) rs773455166
NM_005869.4(CWC27):c.801A>G (p.Ala267=) rs2531296744
NM_005869.4(CWC27):c.805C>T (p.His269Tyr) rs760775772
NM_005869.4(CWC27):c.812A>C (p.Glu271Ala) rs2112214378
NM_005869.4(CWC27):c.825T>A (p.Gly275=)
NM_005869.4(CWC27):c.829G>T (p.Glu277Ter) rs1744583469
NM_005869.4(CWC27):c.842T>C (p.Met281Thr) rs2112214504
NM_005869.4(CWC27):c.843G>T (p.Met281Ile) rs201403830
NM_005869.4(CWC27):c.847G>A (p.Glu283Lys) rs2531296929
NM_005869.4(CWC27):c.858C>G (p.Ala286=) rs1580620195
NM_005869.4(CWC27):c.872A>C (p.Lys291Thr)
NM_005869.4(CWC27):c.878C>T (p.Thr293Ile) rs551945418
NM_005869.4(CWC27):c.885G>A (p.Ala295=) rs778866747
NM_005869.4(CWC27):c.890T>C (p.Val297Ala) rs1321805544
NM_005869.4(CWC27):c.892A>G (p.Lys298Glu) rs747909538
NM_005869.4(CWC27):c.908_910del (p.Gly303del) rs764283583
NM_005869.4(CWC27):c.918G>A (p.Glu306=) rs1340828580
NM_005869.4(CWC27):c.918GAA[1] (p.Lys308del) rs1367503347
NM_005869.4(CWC27):c.922A>T (p.Lys308Ter) rs2531297194
NM_005869.4(CWC27):c.926C>G (p.Ser309Ter) rs2112214898
NM_005869.4(CWC27):c.926C>T (p.Ser309Leu) rs2112214898
NM_005869.4(CWC27):c.927A>G (p.Ser309=)
NM_005869.4(CWC27):c.933C>G (p.Ser311Arg) rs2112214950
NM_005869.4(CWC27):c.938+12_938+13insT
NM_005869.4(CWC27):c.938+13C>T rs2531297295
NM_005869.4(CWC27):c.938+14T>C rs2112215041
NM_005869.4(CWC27):c.938+14_938+15insAGTGA
NM_005869.4(CWC27):c.938+4A>T rs1417339130
NM_005869.4(CWC27):c.939-10del rs764637707
NM_005869.4(CWC27):c.939-8C>G
NM_005869.4(CWC27):c.942A>G (p.Glu314=)
NM_005869.4(CWC27):c.946C>T (p.Leu316Phe) rs2531413145
NM_005869.4(CWC27):c.94G>T (p.Glu32Ter) rs922927440
NM_005869.4(CWC27):c.963A>G (p.Arg321=) rs2112343288
NM_005869.4(CWC27):c.994del (p.Gln332fs) rs2112343388
NM_005869.4(CWC27):c.995A>C (p.Gln332Pro) rs199655070

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