ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2L by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 888
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00065
NM_213599.3(ANO5):c.1065C>T (p.Leu355=) rs1469195279 0.00060
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe) rs190937193 0.00041
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_213599.3(ANO5):c.1800+16A>G rs191813328 0.00029
NM_213599.3(ANO5):c.689A>G (p.Asp230Gly) rs139259793 0.00025
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln) rs370084681 0.00021
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu) rs745908606 0.00019
NM_213599.3(ANO5):c.1747G>A (p.Val583Ile) rs375225649 0.00018
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln) rs140381407 0.00018
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.279C>T (p.Asp93=) rs148516756 0.00015
NM_213599.3(ANO5):c.1036A>C (p.Ile346Leu) rs146233625 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.525C>G (p.Leu175=) rs143331003 0.00014
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter) rs1488095558 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_213599.3(ANO5):c.2273G>A (p.Arg758His) rs369058382 0.00012
NM_213599.3(ANO5):c.1364G>A (p.Arg455His) rs772899863 0.00011
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.3(ANO5):c.2235+4A>C rs372056234 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_213599.3(ANO5):c.2446G>A (p.Glu816Lys) rs145127621 0.00010
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys) rs200531045 0.00010
NM_213599.3(ANO5):c.994A>G (p.Met332Val) rs200553437 0.00010
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_213599.3(ANO5):c.1420G>A (p.Val474Ile) rs750702622 0.00009
NM_213599.3(ANO5):c.1553G>C (p.Gly518Ala) rs201463445 0.00009
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_213599.3(ANO5):c.1845C>T (p.Thr615=) rs138731456 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213599.3(ANO5):c.369G>A (p.Ser123=) rs199888040 0.00009
NM_213599.3(ANO5):c.479G>A (p.Arg160His) rs150652958 0.00009
NM_213599.3(ANO5):c.1430T>C (p.Met477Thr) rs149017832 0.00008
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly) rs141799673 0.00008
NM_213599.3(ANO5):c.1760G>A (p.Gly587Glu) rs369600326 0.00007
NM_213599.3(ANO5):c.2569G>A (p.Val857Ile) rs1346740717 0.00007
NM_213599.3(ANO5):c.570A>G (p.Gln190=) rs144159801 0.00007
NM_213599.3(ANO5):c.1125C>T (p.Ser375=) rs139458696 0.00006
NM_213599.3(ANO5):c.1214A>G (p.Gln405Arg) rs918732999 0.00006
NM_213599.3(ANO5):c.1215A>G (p.Gln405=) rs751839118 0.00006
NM_213599.3(ANO5):c.1361C>T (p.Thr454Met) rs148698633 0.00006
NM_213599.3(ANO5):c.1933C>T (p.Arg645Trp) rs139303302 0.00006
NM_213599.3(ANO5):c.2029+20T>A rs751432635 0.00006
NM_213599.3(ANO5):c.2445C>T (p.Asp815=) rs774160498 0.00006
NM_213599.3(ANO5):c.2520+19T>A rs368182764 0.00006
NM_213599.3(ANO5):c.294+9A>G rs369462468 0.00006
NM_213599.3(ANO5):c.342G>A (p.Glu114=) rs774989555 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_213599.3(ANO5):c.674C>T (p.Pro225Leu) rs757947963 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_213599.3(ANO5):c.1630+12A>G rs962562580 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213599.3(ANO5):c.2236-9dup rs777519959 0.00005
NM_213599.3(ANO5):c.2611A>C (p.Met871Leu) rs189233047 0.00005
NM_213599.3(ANO5):c.533G>C (p.Ser178Thr) rs146725859 0.00005
NM_213599.3(ANO5):c.1068T>C (p.Cys356=) rs971438427 0.00004
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 0.00004
NM_213599.3(ANO5):c.1165T>C (p.Phe389Leu) rs886043042 0.00004
NM_213599.3(ANO5):c.1201T>C (p.Trp401Arg) rs149656183 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_213599.3(ANO5):c.129A>G (p.Glu43=) rs149627067 0.00004
NM_213599.3(ANO5):c.1407+19A>T rs773359583 0.00004
NM_213599.3(ANO5):c.1434A>C (p.Val478=) rs886044360 0.00004
NM_213599.3(ANO5):c.1482C>T (p.Phe494=) rs745446244 0.00004
NM_213599.3(ANO5):c.2275C>T (p.Leu759=) rs142231956 0.00004
NM_213599.3(ANO5):c.2388G>A (p.Ser796=) rs375857192 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213599.3(ANO5):c.280G>A (p.Ala94Thr) rs367731017 0.00004
NM_213599.3(ANO5):c.443G>T (p.Gly148Val) rs912120379 0.00004
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp) rs149040903 0.00004
NM_213599.3(ANO5):c.584G>A (p.Arg195Gln) rs143078257 0.00004
NM_213599.3(ANO5):c.648+15C>A rs755901117 0.00004
NM_213599.3(ANO5):c.653A>G (p.Tyr218Cys) rs548449293 0.00004
NM_213599.3(ANO5):c.731A>G (p.Asn244Ser) rs761648888 0.00004
NM_213599.3(ANO5):c.803A>G (p.Asn268Ser) rs769560800 0.00004
NM_213599.3(ANO5):c.1042G>A (p.Gly348Ser) rs139344099 0.00003
NM_213599.3(ANO5):c.1116A>G (p.Ser372=) rs151022897 0.00003
NM_213599.3(ANO5):c.1181-4A>G rs562526138 0.00003
NM_213599.3(ANO5):c.11C>G (p.Pro4Arg) rs376116831 0.00003
NM_213599.3(ANO5):c.1227A>G (p.Glu409=) rs781554633 0.00003
NM_213599.3(ANO5):c.1312A>C (p.Lys438Gln) rs761417429 0.00003
NM_213599.3(ANO5):c.1314A>G (p.Lys438=) rs764893392 0.00003
NM_213599.3(ANO5):c.1387G>A (p.Gly463Arg) rs776193177 0.00003
NM_213599.3(ANO5):c.1407+6C>A rs748023499 0.00003
NM_213599.3(ANO5):c.1419C>T (p.Val473=) rs201501021 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.1880T>C (p.Ile627Thr) rs766811349 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.2039T>C (p.Phe680Ser) rs777640863 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213599.3(ANO5):c.234G>A (p.Arg78=) rs772355765 0.00003
NM_213599.3(ANO5):c.2396G>A (p.Arg799Gln) rs747460085 0.00003
NM_213599.3(ANO5):c.2484C>T (p.Val828=) rs755490355 0.00003
NM_213599.3(ANO5):c.2489C>T (p.Ala830Val) rs766853141 0.00003
NM_213599.3(ANO5):c.2610A>G (p.Leu870=) rs369103376 0.00003
NM_213599.3(ANO5):c.2622G>A (p.Lys874=) rs1231236931 0.00003
NM_213599.3(ANO5):c.2675C>T (p.Ser892Phe) rs754663101 0.00003
NM_213599.3(ANO5):c.2689A>C (p.Lys897Gln) rs1474144803 0.00003
NM_213599.3(ANO5):c.276A>G (p.Lys92=) rs201678262 0.00003
NM_213599.3(ANO5):c.31G>A (p.Ala11Thr) rs1373002417 0.00003
NM_213599.3(ANO5):c.416T>C (p.Val139Ala) rs758319655 0.00003
NM_213599.3(ANO5):c.44A>G (p.Glu15Gly) rs886042647 0.00003
NM_213599.3(ANO5):c.457A>G (p.Ile153Val) rs780988638 0.00003
NM_213599.3(ANO5):c.561T>A (p.Phe187Leu) rs754808979 0.00003
NM_213599.3(ANO5):c.581A>G (p.His194Arg) rs146418790 0.00003
NM_213599.3(ANO5):c.696G>A (p.Lys232=) rs773606619 0.00003
NM_213599.3(ANO5):c.736T>C (p.Tyr246His) rs1219063834 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_213599.3(ANO5):c.788C>T (p.Pro263Leu) rs754281591 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_213599.3(ANO5):c.1211G>A (p.Arg404Gln) rs375834855 0.00002
NM_213599.3(ANO5):c.1254A>G (p.Glu418=) rs368092838 0.00002
NM_213599.3(ANO5):c.1315T>C (p.Leu439=) rs749879718 0.00002
NM_213599.3(ANO5):c.138+6C>G rs1342335241 0.00002
NM_213599.3(ANO5):c.142G>A (p.Ala48Thr) rs1156394263 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_213599.3(ANO5):c.1698A>G (p.Val566=) rs760875613 0.00002
NM_213599.3(ANO5):c.170G>A (p.Arg57Gln) rs781702630 0.00002
NM_213599.3(ANO5):c.1722C>T (p.Tyr574=) rs781145099 0.00002
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr) rs763783201 0.00002
NM_213599.3(ANO5):c.1840T>C (p.Leu614=) rs532097575 0.00002
NM_213599.3(ANO5):c.1904C>T (p.Ala635Val) rs540339861 0.00002
NM_213599.3(ANO5):c.1915T>C (p.Trp639Arg) rs973595720 0.00002
NM_213599.3(ANO5):c.1921C>T (p.Arg641Cys) rs372674175 0.00002
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs) rs1308707703 0.00002
NM_213599.3(ANO5):c.2030-3C>A rs752534913 0.00002
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter) rs749645231 0.00002
NM_213599.3(ANO5):c.2414+3G>A rs199548403 0.00002
NM_213599.3(ANO5):c.2417A>G (p.Tyr806Cys) rs755040619 0.00002
NM_213599.3(ANO5):c.2438C>A (p.Pro813His) rs547523498 0.00002
NM_213599.3(ANO5):c.2503T>G (p.Phe835Val) rs374725506 0.00002
NM_213599.3(ANO5):c.2578G>C (p.Asp860His) rs145362994 0.00002
NM_213599.3(ANO5):c.2623A>C (p.Ile875Leu) rs1131691364 0.00002
NM_213599.3(ANO5):c.2711A>T (p.Asn904Ile) rs772279212 0.00002
NM_213599.3(ANO5):c.294+18G>A rs780347617 0.00002
NM_213599.3(ANO5):c.295-16T>C rs746448319 0.00002
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser) rs1010958758 0.00002
NM_213599.3(ANO5):c.746C>T (p.Ala249Val) rs1278466363 0.00002
NM_213599.3(ANO5):c.794A>G (p.Asn265Ser) rs377553546 0.00002
NM_213599.3(ANO5):c.845A>G (p.Tyr282Cys) rs561417561 0.00002
NM_213599.3(ANO5):c.88-16C>A rs745357713 0.00002
NM_213599.3(ANO5):c.921T>C (p.Leu307=) rs755092814 0.00002
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg) rs541372136 0.00001
NM_213599.3(ANO5):c.1104G>A (p.Thr368=) rs764025536 0.00001
NM_213599.3(ANO5):c.1119+1G>T rs762946781 0.00001
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.1149A>T (p.Thr383=) rs184710005 0.00001
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys) rs886042339 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1318A>G (p.Asn440Asp) rs1205351330 0.00001
NM_213599.3(ANO5):c.1332+5A>G rs1287723428 0.00001
NM_213599.3(ANO5):c.1333-9A>G rs538243103 0.00001
NM_213599.3(ANO5):c.1362G>A (p.Thr454=) rs747933251 0.00001
NM_213599.3(ANO5):c.136A>G (p.Met46Val) rs537770163 0.00001
NM_213599.3(ANO5):c.1383T>C (p.Leu461=) rs1265521389 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NM_213599.3(ANO5):c.1417G>A (p.Val473Ile) rs202040709 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.1548C>T (p.Leu516=) rs886042624 0.00001
NM_213599.3(ANO5):c.1551A>G (p.Thr517=) rs370241354 0.00001
NM_213599.3(ANO5):c.1578C>G (p.Ile526Met) rs373972893 0.00001
NM_213599.3(ANO5):c.1594T>C (p.Phe532Leu) rs768109557 0.00001
NM_213599.3(ANO5):c.1609T>C (p.Ser537Pro) rs773518330 0.00001
NM_213599.3(ANO5):c.1630+5del rs1064795273 0.00001
NM_213599.3(ANO5):c.1695T>C (p.Phe565=) rs142009189 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1723G>A (p.Val575Ile) rs751404759 0.00001
NM_213599.3(ANO5):c.1746C>A (p.Phe582Leu) rs267602823 0.00001
NM_213599.3(ANO5):c.1767C>T (p.Tyr589=) rs188150039 0.00001
NM_213599.3(ANO5):c.1800+12C>T rs1331521048 0.00001
NM_213599.3(ANO5):c.1800+5G>A rs794727179 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.1801T>C (p.Cys601Arg) rs201467684 0.00001
NM_213599.3(ANO5):c.181-16T>C rs762760550 0.00001
NM_213599.3(ANO5):c.181-4G>A rs186533442 0.00001
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg) rs754497228 0.00001
NM_213599.3(ANO5):c.1860G>A (p.Gly620=) rs886042751 0.00001
NM_213599.3(ANO5):c.1888G>A (p.Ala630Thr) rs751996270 0.00001
NM_213599.3(ANO5):c.1894T>G (p.Tyr632Asp) rs748238790 0.00001
NM_213599.3(ANO5):c.1922G>A (p.Arg641His) rs200265848 0.00001
NM_213599.3(ANO5):c.1934G>A (p.Arg645Gln) rs762414395 0.00001
NM_213599.3(ANO5):c.1957A>G (p.Ser653Gly) rs370610082 0.00001
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg) rs912174567 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.1983T>A (p.Leu661=) rs944652752 0.00001
NM_213599.3(ANO5):c.19C>T (p.Leu7=) rs886044133 0.00001
NM_213599.3(ANO5):c.2000T>A (p.Leu667His) rs1294495622 0.00001
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys) rs764261431 0.00001
NM_213599.3(ANO5):c.2030-2A>T rs1187569251 0.00001
NM_213599.3(ANO5):c.2096T>C (p.Ile699Thr) rs772625102 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.2125G>T (p.Ala709Ser) rs868221979 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_213599.3(ANO5):c.2175T>C (p.His725=) rs1057522538 0.00001
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile) rs778772732 0.00001
NM_213599.3(ANO5):c.2235+17C>T rs769229046 0.00001
NM_213599.3(ANO5):c.2235+8G>A rs1454921320 0.00001
NM_213599.3(ANO5):c.228G>A (p.Gly76=) rs746137951 0.00001
NM_213599.3(ANO5):c.2317A>G (p.Met773Val) rs751028884 0.00001
NM_213599.3(ANO5):c.2320A>G (p.Thr774Ala) rs1305665401 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2347G>A (p.Val783Ile) rs756648592 0.00001
NM_213599.3(ANO5):c.2348T>C (p.Val783Ala) rs778067880 0.00001
NM_213599.3(ANO5):c.2353C>T (p.Leu785=) rs749699281 0.00001
NM_213599.3(ANO5):c.2390A>G (p.Glu797Gly) rs772852694 0.00001
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter) rs762874007 0.00001
NM_213599.3(ANO5):c.2425T>G (p.Tyr809Asp) rs781142402 0.00001
NM_213599.3(ANO5):c.2458T>C (p.Phe820Leu) rs769775434 0.00001
NM_213599.3(ANO5):c.246T>C (p.Phe82=) rs1342171097 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_213599.3(ANO5):c.2481T>C (p.His827=) rs750804063 0.00001
NM_213599.3(ANO5):c.2513T>C (p.Val838Ala) rs1295612924 0.00001
NM_213599.3(ANO5):c.2516T>C (p.Met839Thr) rs150442899 0.00001
NM_213599.3(ANO5):c.2520+6C>T rs886042378 0.00001
NM_213599.3(ANO5):c.2521-1del rs752982710 0.00001
NM_213599.3(ANO5):c.2521-8T>C rs767677808 0.00001
NM_213599.3(ANO5):c.258C>T (p.Tyr86=) rs747146523 0.00001
NM_213599.3(ANO5):c.2598G>A (p.Lys866=) rs1854999022 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
NM_213599.3(ANO5):c.263A>G (p.Asp88Gly) rs1206860357 0.00001
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr) rs766228901 0.00001
NM_213599.3(ANO5):c.2661C>T (p.Asn887=) rs1442185727 0.00001
NM_213599.3(ANO5):c.2664G>A (p.Leu888=) rs758311698 0.00001
NM_213599.3(ANO5):c.2717C>T (p.Ala906Val) rs764351643 0.00001
NM_213599.3(ANO5):c.293C>T (p.Ala98Val) rs201776515 0.00001
NM_213599.3(ANO5):c.295-4A>G rs750707593 0.00001
NM_213599.3(ANO5):c.331A>C (p.Thr111Pro) rs778956037 0.00001
NM_213599.3(ANO5):c.364-8T>A rs398124624 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
NM_213599.3(ANO5):c.415G>T (p.Val139Leu) rs753871250 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.436G>A (p.Val146Ile) rs1396031481 0.00001
NM_213599.3(ANO5):c.463G>A (p.Glu155Lys) rs377650308 0.00001
NM_213599.3(ANO5):c.465G>A (p.Glu155=) rs769346104 0.00001
NM_213599.3(ANO5):c.475C>A (p.Pro159Thr) rs866752563 0.00001
NM_213599.3(ANO5):c.49G>A (p.Val17Ile) rs760992965 0.00001
NM_213599.3(ANO5):c.512G>A (p.Gly171Glu) rs977056246 0.00001
NM_213599.3(ANO5):c.517G>C (p.Val173Leu) rs775841716 0.00001
NM_213599.3(ANO5):c.51C>A (p.Val17=) rs1564909951 0.00001
NM_213599.3(ANO5):c.545C>T (p.Pro182Leu) rs1319423412 0.00001
NM_213599.3(ANO5):c.567A>G (p.Ala189=) rs546565538 0.00001
NM_213599.3(ANO5):c.627A>G (p.Pro209=) rs761949902 0.00001
NM_213599.3(ANO5):c.632C>T (p.Ser211Leu) rs142939381 0.00001
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly) rs1490746741 0.00001
NM_213599.3(ANO5):c.648+5G>A rs752512585 0.00001
NM_213599.3(ANO5):c.650T>C (p.Val217Ala) rs749876289 0.00001
NM_213599.3(ANO5):c.656A>G (p.Tyr219Cys) rs753667370 0.00001
NM_213599.3(ANO5):c.664T>C (p.Ser222Pro) rs886042372 0.00001
NM_213599.3(ANO5):c.671G>C (p.Cys224Ser) rs749915913 0.00001
NM_213599.3(ANO5):c.6C>T (p.Gly2=) rs781074405 0.00001
NM_213599.3(ANO5):c.729T>C (p.Ser243=) rs776237436 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NM_213599.3(ANO5):c.763-15C>T rs753314082 0.00001
NM_213599.3(ANO5):c.763-3C>T rs756702010 0.00001
NM_213599.3(ANO5):c.763G>A (p.Gly255Ser) rs778212736 0.00001
NM_213599.3(ANO5):c.820C>T (p.His274Tyr) rs758954110 0.00001
NM_213599.3(ANO5):c.836G>A (p.Arg279Gln) rs201329725 0.00001
NM_213599.3(ANO5):c.87+10A>C rs759370330 0.00001
NM_213599.3(ANO5):c.87+3A>G rs1387282754 0.00001
NM_213599.3(ANO5):c.878+15C>T rs749113193 0.00001
NM_213599.3(ANO5):c.87G>A (p.Glu29=) rs1554919178 0.00001
NM_213599.3(ANO5):c.88C>G (p.Gln30Glu) rs747575706 0.00001
NM_213599.3(ANO5):c.904A>G (p.Ile302Val) rs750762553 0.00001
NM_213599.3(ANO5):c.989T>C (p.Leu330Ser) rs373814281 0.00001
NM_213599.3(ANO5):c.996G>A (p.Met332Ile) rs377619934 0.00001
NC_000011.10:g.(?_22193483)_(22226062_?)del
NC_000011.10:g.(?_22193483)_(22227596_?)dup
NC_000011.10:g.(?_22218246)_(22221210_?)del
NC_000011.10:g.(?_22239559)_(22279775_?)dup
NC_000011.10:g.(?_22272764)_(22276219_?)del
NC_000011.9:g.(?_22215039)_(22225416_?)del
NC_000011.9:g.(?_22215039)_(22247618_?)del
NC_000011.9:g.(?_22215039)_(22249152_?)dup
NC_000011.9:g.(?_22215039)_(22272577_?)dup
NC_000011.9:g.(?_22225330)_(22225416_?)del
NC_000011.9:g.(?_22242623)_(22277088_?)del
NC_000011.9:g.(?_22242623)_(22301311_?)del
NC_000011.9:g.(?_22242633)_(22242766_?)del
NC_000011.9:g.(?_22257699)_(22261240_?)dup
NC_000011.9:g.(?_22261095)_(22261250_?)del
NC_000011.9:g.(?_22261105)_(22277078_?)del
NC_000011.9:g.(?_22261105)_(22301321_?)del
NC_000011.9:g.(?_22276907)_(22301321_?)del
NC_000011.9:g.(?_22281045)_(22281307_?)del
NC_000011.9:g.(?_22297620)_(22301311_?)dup
NC_000011.9:g.(?_22297630)_(22301321_?)del
NC_000011.9:g.(?_22297630)_(22301321_?)dup
NC_000011.9:g.(?_22297640)_(22304913_?)dup
NM_213599.3(ANO5):c.1013+20C>G
NM_213599.3(ANO5):c.1013+7G>C
NM_213599.3(ANO5):c.1013G>A (p.Ser338Asn)
NM_213599.3(ANO5):c.1014-15C>T
NM_213599.3(ANO5):c.1014-20C>T rs1309461383
NM_213599.3(ANO5):c.1014-3C>T
NM_213599.3(ANO5):c.1014-4G>A
NM_213599.3(ANO5):c.1014-6T>A rs760705359
NM_213599.3(ANO5):c.1014-7C>A
NM_213599.3(ANO5):c.1016C>T (p.Thr339Ile)
NM_213599.3(ANO5):c.1022T>C (p.Ile341Thr)
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)
NM_213599.3(ANO5):c.1036A>G (p.Ile346Val) rs146233625
NM_213599.3(ANO5):c.103A>G (p.Arg35Gly) rs1852267355
NM_213599.3(ANO5):c.1042G>T (p.Gly348Cys) rs139344099
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter) rs2133704072
NM_213599.3(ANO5):c.1050G>C (p.Met350Ile)
NM_213599.3(ANO5):c.1050G>T (p.Met350Ile)
NM_213599.3(ANO5):c.1052T>C (p.Ile351Thr)
NM_213599.3(ANO5):c.1055T>C (p.Met352Thr) rs991625488
NM_213599.3(ANO5):c.1056G>A (p.Met352Ile)
NM_213599.3(ANO5):c.1061C>T (p.Pro354Leu)
NM_213599.3(ANO5):c.1063C>T (p.Leu355Phe) rs886042583
NM_213599.3(ANO5):c.1075G>A (p.Val359Met)
NM_213599.3(ANO5):c.1075G>T (p.Val359Leu)
NM_213599.3(ANO5):c.1086T>C (p.Tyr362=) rs139639078
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter) rs1554929301
NM_213599.3(ANO5):c.108G>C (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.108G>T (p.Glu36Asp) rs1417289245
NM_213599.3(ANO5):c.108_109del (p.Glu36fs) rs886044020
NM_213599.3(ANO5):c.1103C>G (p.Thr368Arg)
NM_213599.3(ANO5):c.1105T>G (p.Cys369Gly)
NM_213599.3(ANO5):c.1106G>A (p.Cys369Tyr) rs886044154
NM_213599.3(ANO5):c.1117A>C (p.Lys373Gln) rs2133704406
NM_213599.3(ANO5):c.1119+9G>A
NM_213599.3(ANO5):c.1120-13_1120-8del rs1564936388
NM_213599.3(ANO5):c.1120-5T>C
NM_213599.3(ANO5):c.1120-9T>G rs1334854466
NM_213599.3(ANO5):c.1120T>C (p.Phe374Leu)
NM_213599.3(ANO5):c.113G>A (p.Ser38Asn) rs2133551587
NM_213599.3(ANO5):c.114C>T (p.Ser38=)
NM_213599.3(ANO5):c.1168A>T (p.Met390Leu) rs1853797522
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
NM_213599.3(ANO5):c.1180+1G>C
NM_213599.3(ANO5):c.1180+3G>A
NM_213599.3(ANO5):c.1180+3G>T rs2133705171
NM_213599.3(ANO5):c.1180G>A (p.Val394Ile)
NM_213599.3(ANO5):c.1181-17T>C
NM_213599.3(ANO5):c.1181-1G>A
NM_213599.3(ANO5):c.11C>A (p.Pro4Gln) rs376116831
NM_213599.3(ANO5):c.11C>T (p.Pro4Leu)
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.1222del (p.Leu408fs) rs1853968715
NM_213599.3(ANO5):c.1233A>G (p.Glu411=) rs2133722195
NM_213599.3(ANO5):c.123C>G (p.Ile41Met)
NM_213599.3(ANO5):c.1243G>A (p.Val415Met) rs886042432
NM_213599.3(ANO5):c.1256A>C (p.Glu419Ala) rs1853970837
NM_213599.3(ANO5):c.1263G>A (p.Gln421=)
NM_213599.3(ANO5):c.1265A>C (p.Gln422Pro) rs1554930319
NM_213599.3(ANO5):c.1275G>A (p.Gln425=)
NM_213599.3(ANO5):c.1311G>C (p.Arg437Ser)
NM_213599.3(ANO5):c.1332+16G>A
NM_213599.3(ANO5):c.1332+17_1332+18del
NM_213599.3(ANO5):c.1332G>A (p.Lys444=) rs550454492
NM_213599.3(ANO5):c.1333-2A>G rs2133730668
NM_213599.3(ANO5):c.1333-2A>T rs2133730668
NM_213599.3(ANO5):c.1333-4A>G
NM_213599.3(ANO5):c.1333-5T>A
NM_213599.3(ANO5):c.1348A>G (p.Met450Val) rs1362712764
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.1359C>T (p.Tyr453=) rs754889480
NM_213599.3(ANO5):c.1363C>T (p.Arg455Cys) rs200633920
NM_213599.3(ANO5):c.1369C>G (p.Pro457Ala)
NM_213599.3(ANO5):c.1371A>G (p.Pro457=)
NM_213599.3(ANO5):c.1372T>C (p.Trp458Arg)
NM_213599.3(ANO5):c.1376A>G (p.Tyr459Cys)
NM_213599.3(ANO5):c.137T>A (p.Met46Lys)
NM_213599.3(ANO5):c.137T>C (p.Met46Thr)
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.138+11A>G
NM_213599.3(ANO5):c.138+11del
NM_213599.3(ANO5):c.138+12C>A
NM_213599.3(ANO5):c.138+14_138+23del
NM_213599.3(ANO5):c.138+17A>C
NM_213599.3(ANO5):c.138+20A>G
NM_213599.3(ANO5):c.138+9C>T
NM_213599.3(ANO5):c.1388G>A (p.Gly463Glu) rs1854050845
NM_213599.3(ANO5):c.139C>T (p.Pro47Ser) rs147323556
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)
NM_213599.3(ANO5):c.1401A>G (p.Thr467=) rs757450282
NM_213599.3(ANO5):c.1405T>C (p.Trp469Arg)
NM_213599.3(ANO5):c.1408-19_1408-16del rs1483821642
NM_213599.3(ANO5):c.1409T>A (p.Met470Lys) rs1403946332
NM_213599.3(ANO5):c.140C>T (p.Pro47Leu)
NM_213599.3(ANO5):c.1410G>A (p.Met470Ile) rs2133737951
NM_213599.3(ANO5):c.1417G>C (p.Val473Leu)
NM_213599.3(ANO5):c.1438_1439insGTG (p.Ala479_Val480insGly) rs886042702
NM_213599.3(ANO5):c.1444G>A (p.Val482Met)
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)
NM_213599.3(ANO5):c.1453C>T (p.Leu485=)
NM_213599.3(ANO5):c.1463T>C (p.Phe488Ser) rs1590300142
NM_213599.3(ANO5):c.1468A>G (p.Thr490Ala) rs375611559
NM_213599.3(ANO5):c.1468A>T (p.Thr490Ser) rs375611559
NM_213599.3(ANO5):c.146A>G (p.Lys49Arg) rs2133578091
NM_213599.3(ANO5):c.1470A>G (p.Thr490=)
NM_213599.3(ANO5):c.1486G>A (p.Glu496Lys) rs1854122899
NM_213599.3(ANO5):c.1489A>G (p.Ser497Gly)
NM_213599.3(ANO5):c.1497A>G (p.Ala499=) rs886042923
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)
NM_213599.3(ANO5):c.1516del (p.Ser506fs) rs1302414683
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1521C>T (p.Phe507=) rs2133738499
NM_213599.3(ANO5):c.1528C>G (p.Pro510Ala)
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter) rs1486335553
NM_213599.3(ANO5):c.1534A>G (p.Ile512Val) rs1354557357
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter) rs1854126127
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)
NM_213599.3(ANO5):c.1563G>A (p.Leu521=) rs190937193
NM_213599.3(ANO5):c.1567T>G (p.Phe523Val) rs1854128264
NM_213599.3(ANO5):c.1576A>C (p.Ile526Leu)
NM_213599.3(ANO5):c.1595T>C (p.Phe532Ser)
NM_213599.3(ANO5):c.1606A>C (p.Ile536Leu)
NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
NM_213599.3(ANO5):c.1612_1613delinsTT (p.Ala538Phe)
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1628T>A (p.Met543Lys) rs2133739053
NM_213599.3(ANO5):c.1629G>T (p.Met543Ile) rs1854131377
NM_213599.3(ANO5):c.1630+10C>A
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
NM_213599.3(ANO5):c.1630+7_1630+10del
NM_213599.3(ANO5):c.1631-11del
NM_213599.3(ANO5):c.1631-11dup rs202244923
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1631-17T>A
NM_213599.3(ANO5):c.1631-19T>A
NM_213599.3(ANO5):c.1631-9A>T
NM_213599.3(ANO5):c.1636C>A (p.Pro546Thr) rs2133747368
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly) rs747719953
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1648C>A (p.Gln550Lys) rs1854208561
NM_213599.3(ANO5):c.1649A>G (p.Gln550Arg)
NM_213599.3(ANO5):c.1653G>A (p.Glu551=) rs1277595417
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter) rs2133747497
NM_213599.3(ANO5):c.1657G>A (p.Glu553Lys)
NM_213599.3(ANO5):c.1665T>A (p.Ser555Arg) rs1554931739
NM_213599.3(ANO5):c.1671C>T (p.Thr557=)
NM_213599.3(ANO5):c.1680del (p.Met560fs)
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter) rs2133747657
NM_213599.3(ANO5):c.169C>G (p.Arg57Gly) rs1323349209
NM_213599.3(ANO5):c.16C>T (p.Leu6Phe)
NM_213599.3(ANO5):c.1711T>C (p.Ser571Pro)
NM_213599.3(ANO5):c.1712C>T (p.Ser571Phe)
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter) rs368389717
NM_213599.3(ANO5):c.1718T>C (p.Phe573Ser) rs2133747819
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys) rs2133747827
NM_213599.3(ANO5):c.1726G>A (p.Ala576Thr)
NM_213599.3(ANO5):c.1728T>C (p.Ala576=) rs2133747873
NM_213599.3(ANO5):c.1734T>C (p.Phe578=)
NM_213599.3(ANO5):c.1736A>T (p.Lys579Ile) rs1554931810
NM_213599.3(ANO5):c.1737dup (p.Gly580fs) rs759064817
NM_213599.3(ANO5):c.173G>T (p.Arg58Leu) rs749698519
NM_213599.3(ANO5):c.1746C>T (p.Phe582=) rs267602823
NM_213599.3(ANO5):c.1754A>G (p.Tyr585Cys) rs2133748070
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
NM_213599.3(ANO5):c.1790G>A (p.Arg597Lys) rs1854215396
NM_213599.3(ANO5):c.1793G>T (p.Ser598Ile)
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
NM_213599.3(ANO5):c.180+2T>C rs1564918396
NM_213599.3(ANO5):c.180+6A>G
NM_213599.3(ANO5):c.1800+19G>A
NM_213599.3(ANO5):c.1800+19G>T rs747434413
NM_213599.3(ANO5):c.1800+20T>C rs1190643138
NM_213599.3(ANO5):c.1801-1G>C rs2133750487
NM_213599.3(ANO5):c.1801-7T>C
NM_213599.3(ANO5):c.1801-8C>T
NM_213599.3(ANO5):c.181-18C>T rs1350082012
NM_213599.3(ANO5):c.181-3C>T rs1413673264
NM_213599.3(ANO5):c.181-5T>C rs765995011
NM_213599.3(ANO5):c.1817G>A (p.Cys606Tyr) rs2133750545
NM_213599.3(ANO5):c.1827A>G (p.Glu609=) rs1564944168
NM_213599.3(ANO5):c.1835C>T (p.Thr612Ile)
NM_213599.3(ANO5):c.1836C>A (p.Thr612=) rs1289517485
NM_213599.3(ANO5):c.1837C>A (p.Gln613Lys) rs1854241987
NM_213599.3(ANO5):c.1854G>A (p.Met618Ile)
NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn) rs1554931947
NM_213599.3(ANO5):c.1857C>T (p.Thr619=)
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
NM_213599.3(ANO5):c.1889C>G (p.Ala630Gly)
NM_213599.3(ANO5):c.1893T>A (p.Ile631=)
NM_213599.3(ANO5):c.1898+13T>C
NM_213599.3(ANO5):c.1898+14_1898+21del
NM_213599.3(ANO5):c.1898+15C>T rs775242183
NM_213599.3(ANO5):c.1898+1del
NM_213599.3(ANO5):c.1898+9G>C
NM_213599.3(ANO5):c.1899-14A>C
NM_213599.3(ANO5):c.1899-19C>T
NM_213599.3(ANO5):c.1899-4A>G
NM_213599.3(ANO5):c.1899-5A>G
NM_213599.3(ANO5):c.1899-7C>T
NM_213599.3(ANO5):c.18C>T (p.Leu6=) rs1257688225
NM_213599.3(ANO5):c.1908G>C (p.Leu636Phe)
NM_213599.3(ANO5):c.1912TGG[1] (p.Trp639del) rs886043515
NM_213599.3(ANO5):c.1919G>C (p.Arg640Thr)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.1920A>T (p.Arg640Ser) rs2133778259
NM_213599.3(ANO5):c.1923C>G (p.Arg641=)
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter) rs146341538
NM_213599.3(ANO5):c.1930G>C (p.Ala644Pro) rs1302354806
NM_213599.3(ANO5):c.1930G>T (p.Ala644Ser) rs1302354806
NM_213599.3(ANO5):c.1936A>G (p.Thr646Ala) rs1398971952
NM_213599.3(ANO5):c.1944T>C (p.Ser648=) rs1854562352
NM_213599.3(ANO5):c.1950G>A (p.Lys650=)
NM_213599.3(ANO5):c.1952T>C (p.Leu651Pro)
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys) rs563666662
NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
NM_213599.3(ANO5):c.1961G>A (p.Arg654Gln)
NM_213599.3(ANO5):c.1962A>G (p.Arg654=) rs1057521970
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys) rs760137559
NM_213599.3(ANO5):c.1970A>T (p.Gln657Leu) rs1854564032
NM_213599.3(ANO5):c.1972G>A (p.Asp658Asn) rs1243399386
NM_213599.3(ANO5):c.1975C>G (p.His659Asp) rs1177606947
NM_213599.3(ANO5):c.197A>G (p.Gln66Arg) rs1852632637
NM_213599.3(ANO5):c.1985A>G (p.Glu662Gly) rs2133778741
NM_213599.3(ANO5):c.1989T>C (p.Ser663=)
NM_213599.3(ANO5):c.1992T>C (p.Phe664=)
NM_213599.3(ANO5):c.1992T>G (p.Phe664Leu)
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2010C>T (p.Phe670=)
NM_213599.3(ANO5):c.2024_2029del (p.Glu675_Thr676del) rs2133778948
NM_213599.3(ANO5):c.2029+8T>C rs1590322804
NM_213599.3(ANO5):c.2029+9dup
NM_213599.3(ANO5):c.2030-10T>C rs2133788068
NM_213599.3(ANO5):c.2030-17_2030-14dup
NM_213599.3(ANO5):c.2030-18T>C
NM_213599.3(ANO5):c.2030-3_2030-2dup rs768691315
NM_213599.3(ANO5):c.2039T>A (p.Phe680Tyr) rs777640863
NM_213599.3(ANO5):c.2051C>T (p.Thr684Ile) rs1554934236
NM_213599.3(ANO5):c.2056T>G (p.Phe686Val) rs1554934237
NM_213599.3(ANO5):c.2062G>A (p.Ala688Thr) rs1411918733
NM_213599.3(ANO5):c.2063C>T (p.Ala688Val)
NM_213599.3(ANO5):c.2067T>C (p.Ser689=) rs2133788273
NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser)
NM_213599.3(ANO5):c.2080C>T (p.Pro694Ser) rs886042582
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)
NM_213599.3(ANO5):c.211A>G (p.Ile71Val)
NM_213599.3(ANO5):c.2138C>T (p.Thr713Ile)
NM_213599.3(ANO5):c.213C>T (p.Ile71=)
NM_213599.3(ANO5):c.2144A>G (p.Gln715Arg) rs886043450
NM_213599.3(ANO5):c.2148C>T (p.Tyr716=)
NM_213599.3(ANO5):c.2156C>G (p.Thr719Ser)
NM_213599.3(ANO5):c.2170G>C (p.Ala724Pro)
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) rs794727231
NM_213599.3(ANO5):c.2173C>A (p.His725Asn)
NM_213599.3(ANO5):c.2179A>G (p.Ile727Val) rs1053189991
NM_213599.3(ANO5):c.2181A>G (p.Ile727Met)
NM_213599.3(ANO5):c.2193A>C (p.Gln731His) rs745356431
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs) rs746738154
NM_213599.3(ANO5):c.2201T>C (p.Leu734Pro) rs2133788943
NM_213599.3(ANO5):c.2203T>G (p.Tyr735Asp) rs1564951438
NM_213599.3(ANO5):c.2207G>A (p.Gly736Glu)
NM_213599.3(ANO5):c.2209A>T (p.Met737Leu) rs1854679617
NM_213599.3(ANO5):c.2216T>G (p.Val739Gly) rs2133789005
NM_213599.3(ANO5):c.2218C>G (p.Leu740Val) rs2133789024
NM_213599.3(ANO5):c.2222C>A (p.Ser741Tyr)
NM_213599.3(ANO5):c.2222C>T (p.Ser741Phe)
NM_213599.3(ANO5):c.2229A>G (p.Ala743=)
NM_213599.3(ANO5):c.2231C>G (p.Thr744Ser)
NM_213599.3(ANO5):c.2235+18G>A rs776959563
NM_213599.3(ANO5):c.2235+19G>A
NM_213599.3(ANO5):c.2235+6T>C rs1246421086
NM_213599.3(ANO5):c.2236-10T>A
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-15T>G
NM_213599.3(ANO5):c.2236-21_2236-17del rs762536132
NM_213599.3(ANO5):c.2236-21_2236-18del
NM_213599.3(ANO5):c.2236-21_2236-19del
NM_213599.3(ANO5):c.2236-2_2238dup
NM_213599.3(ANO5):c.2236-6C>T rs755410266
NM_213599.3(ANO5):c.2236-8T>A
NM_213599.3(ANO5):c.2236-8T>G
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2237C>G (p.Ala746Gly)
NM_213599.3(ANO5):c.223G>C (p.Asp75His) rs886044184
NM_213599.3(ANO5):c.2243T>G (p.Ile748Ser)
NM_213599.3(ANO5):c.2255C>T (p.Thr752Met)
NM_213599.3(ANO5):c.2263A>G (p.Ile755Val)
NM_213599.3(ANO5):c.226G>A (p.Gly76Arg)
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
NM_213599.3(ANO5):c.2279T>A (p.Val760Asp)
NM_213599.3(ANO5):c.2283C>T (p.Tyr761=)
NM_213599.3(ANO5):c.2285A>G (p.Tyr762Cys)
NM_213599.3(ANO5):c.2294A>C (p.Tyr765Ser)
NM_213599.3(ANO5):c.2296T>A (p.Ser766Thr) rs1854763150
NM_213599.3(ANO5):c.22G>A (p.Glu8Lys)
NM_213599.3(ANO5):c.22G>C (p.Glu8Gln) rs1191668273
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter) rs1191668273
NM_213599.3(ANO5):c.2309C>T (p.Thr770Ile)
NM_213599.3(ANO5):c.230T>G (p.Ile77Ser)
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213599.3(ANO5):c.2331G>C (p.Val777=)
NM_213599.3(ANO5):c.2347G>C (p.Val783Leu)
NM_213599.3(ANO5):c.2355G>A (p.Leu785=)
NM_213599.3(ANO5):c.2357T>A (p.Ile786Lys)
NM_213599.3(ANO5):c.2362G>A (p.Asp788Asn)
NM_213599.3(ANO5):c.2362G>C (p.Asp788His)
NM_213599.3(ANO5):c.2369C>T (p.Pro790Leu)
NM_213599.3(ANO5):c.2374C>T (p.His792Tyr) rs1854766846
NM_213599.3(ANO5):c.2376C>T (p.His792=) rs1590332050
NM_213599.3(ANO5):c.2377A>G (p.Thr793Ala)
NM_213599.3(ANO5):c.2377A>T (p.Thr793Ser) rs1854767183
NM_213599.3(ANO5):c.2389G>A (p.Glu797Lys)
NM_213599.3(ANO5):c.2403C>T (p.Phe801=)
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.2414+1G>C rs2133795361
NM_213599.3(ANO5):c.2414+5TTTG[2]
NM_213599.3(ANO5):c.2414+5TTTG[3]
NM_213599.3(ANO5):c.2414+5TTTG[5] rs745502810
NM_213599.3(ANO5):c.2414+7T>G
NM_213599.3(ANO5):c.2414+7del rs776633849
NM_213599.3(ANO5):c.2415-5T>G
NM_213599.3(ANO5):c.2415-7T>C rs1554935084
NM_213599.3(ANO5):c.2415-8C>A rs1161884254
NM_213599.3(ANO5):c.2416T>G (p.Tyr806Asp)
NM_213599.3(ANO5):c.2418C>T (p.Tyr806=) rs2133799805
NM_213599.3(ANO5):c.2424T>C (p.Asp808=)
NM_213599.3(ANO5):c.2433T>C (p.Tyr811=)
NM_213599.3(ANO5):c.2435C>T (p.Pro812Leu) rs1854836805
NM_213599.3(ANO5):c.2445C>G (p.Asp815Glu)
NM_213599.3(ANO5):c.2448G>A (p.Glu816=) rs760336798
NM_213599.3(ANO5):c.2455T>C (p.Tyr819His) rs1854838230
NM_213599.3(ANO5):c.2456A>G (p.Tyr819Cys) rs1554935116
NM_213599.3(ANO5):c.2461C>T (p.His821Tyr)
NM_213599.3(ANO5):c.246del (p.Phe82fs)
NM_213599.3(ANO5):c.2482G>T (p.Val828Phe) rs796172838
NM_213599.3(ANO5):c.2488G>A (p.Ala830Thr)
NM_213599.3(ANO5):c.2501_2502delinsTG (p.Thr834Met) rs1854840862
NM_213599.3(ANO5):c.2503T>A (p.Phe835Ile) rs374725506
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213599.3(ANO5):c.2509A>G (p.Ile837Val)
NM_213599.3(ANO5):c.2520+16C>T rs2133800416
NM_213599.3(ANO5):c.2520+16del
NM_213599.3(ANO5):c.2520+5G>A rs1564954182
NM_213599.3(ANO5):c.2521-18C>T
NM_213599.3(ANO5):c.2524G>A (p.Val842Ile)
NM_213599.3(ANO5):c.2529G>A (p.Val843=) rs777846432
NM_213599.3(ANO5):c.2538T>G (p.Val846=)
NM_213599.3(ANO5):c.2540A>T (p.Lys847Ile) rs375940033
NM_213599.3(ANO5):c.2541A>G (p.Lys847=)
NM_213599.3(ANO5):c.2542T>C (p.Phe848Leu)
NM_213599.3(ANO5):c.2547G>A (p.Leu849=) rs1454782677
NM_213599.3(ANO5):c.2554T>C (p.Trp852Arg) rs1405710743
NM_213599.3(ANO5):c.2561T>A (p.Ile854Lys) rs1311724644
NM_213599.3(ANO5):c.2563C>T (p.Pro855Ser)
NM_213599.3(ANO5):c.2579A>G (p.Asp860Gly)
NM_213599.3(ANO5):c.2581G>A (p.Val861Ile)
NM_213599.3(ANO5):c.2587G>A (p.Glu863Lys)
NM_213599.3(ANO5):c.2587G>C (p.Glu863Gln) rs1442498026
NM_213599.3(ANO5):c.2589G>A (p.Glu863=)
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter) rs747146523
NM_213599.3(ANO5):c.2591G>T (p.Arg864Ile) rs1854998392
NM_213599.3(ANO5):c.2593A>C (p.Ile865Leu) rs772869621
NM_213599.3(ANO5):c.2594_2604del (p.Ile865fs) rs1371210536
NM_213599.3(ANO5):c.259G>C (p.Val87Leu) rs34994927
NM_213599.3(ANO5):c.259G>T (p.Val87Phe)
NM_213599.3(ANO5):c.2600G>T (p.Arg867Ile) rs1223713660
NM_213599.3(ANO5):c.2602_2603del (p.Glu868fs) rs1554935928
NM_213599.3(ANO5):c.2603A>G (p.Glu868Gly) rs2133810964
NM_213599.3(ANO5):c.2609T>G (p.Leu870Ter) rs1855000095
NM_213599.3(ANO5):c.2613G>A (p.Met871Ile)
NM_213599.3(ANO5):c.2624T>C (p.Ile875Thr) rs2133811100
NM_213599.3(ANO5):c.2625T>A (p.Ile875=)
NM_213599.3(ANO5):c.2639A>G (p.Glu880Gly) rs1554935957
NM_213599.3(ANO5):c.2642T>C (p.Leu881Pro) rs1394763627
NM_213599.3(ANO5):c.2642T>G (p.Leu881Arg) rs1394763627
NM_213599.3(ANO5):c.2646C>A (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.2646C>T (p.Asn882=) rs34969327
NM_213599.3(ANO5):c.2672dup (p.Asn891fs) rs2133811319
NM_213599.3(ANO5):c.2677A>G (p.Asn893Asp)
NM_213599.3(ANO5):c.2679T>A (p.Asn893Lys) rs2133811375
NM_213599.3(ANO5):c.267_268inv (p.Val90Ile)
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.2688C>T (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.2691G>A (p.Lys897=) rs2133811453
NM_213599.3(ANO5):c.2698A>G (p.Met900Val) rs148293985
NM_213599.3(ANO5):c.2703T>G (p.Ile901Met)
NM_213599.3(ANO5):c.2704G>A (p.Glu902Lys)
NM_213599.3(ANO5):c.270A>G (p.Val90=)
NM_213599.3(ANO5):c.2715A>C (p.Lys905Asn)
NM_213599.3(ANO5):c.2716G>C (p.Ala906Pro) rs2133811614
NM_213599.3(ANO5):c.2719C>G (p.Gln907Glu) rs765305152
NM_213599.3(ANO5):c.2722C>T (p.Leu908=) rs751394880
NM_213599.3(ANO5):c.2735C>T (p.Thr912Ile)
NM_213599.3(ANO5):c.2737C>T (p.Leu913Phe)
NM_213599.3(ANO5):c.2740T>C (p.Ter914Gln)
NM_213599.3(ANO5):c.2741A>C (p.Ter914Ser)
NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
NM_213599.3(ANO5):c.2742A>T (p.Ter914Tyr)
NM_213599.3(ANO5):c.2742_*3dup (p.Ter914_Ter(914_?)(?))
NM_213599.3(ANO5):c.274A>G (p.Lys92Glu)
NM_213599.3(ANO5):c.277G>A (p.Asp93Asn) rs2133588922
NM_213599.3(ANO5):c.278A>G (p.Asp93Gly)
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
NM_213599.3(ANO5):c.285G>A (p.Glu95=) rs1852639495
NM_213599.3(ANO5):c.285G>C (p.Glu95Asp)
NM_213599.3(ANO5):c.294+12A>G
NM_213599.3(ANO5):c.294+18G>T
NM_213599.3(ANO5):c.294+7G>T rs376201886
NM_213599.3(ANO5):c.294+9A>T rs369462468
NM_213599.3(ANO5):c.295-11T>G
NM_213599.3(ANO5):c.295-15T>A
NM_213599.3(ANO5):c.295-16T>A rs746448319
NM_213599.3(ANO5):c.295-1G>A rs780109230
NM_213599.3(ANO5):c.295-2A>G
NM_213599.3(ANO5):c.295-6T>C
NM_213599.3(ANO5):c.295-7G>A rs753416246
NM_213599.3(ANO5):c.295-8T>C
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.296A>G (p.Glu99Gly) rs571318959
NM_213599.3(ANO5):c.298A>G (p.Arg100Gly) rs1554924008
NM_213599.3(ANO5):c.299del (p.Arg100fs) rs1064793358
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.312T>G (p.Phe104Leu)
NM_213599.3(ANO5):c.322C>T (p.Leu108Phe)
NM_213599.3(ANO5):c.337C>T (p.Leu113Phe)
NM_213599.3(ANO5):c.340del (p.Glu114fs)
NM_213599.3(ANO5):c.345G>A (p.Leu115=) rs975757101
NM_213599.3(ANO5):c.346_347delinsTT (p.Glu116Leu)
NM_213599.3(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.3(ANO5):c.358A>C (p.Lys120Gln)
NM_213599.3(ANO5):c.363G>A (p.Arg121=)
NM_213599.3(ANO5):c.364-1G>A rs1852871649
NM_213599.3(ANO5):c.364-3C>A
NM_213599.3(ANO5):c.364-6del rs2133611269
NM_213599.3(ANO5):c.364-6dup rs2133611269
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.365A>G (p.Asp122Gly)
NM_213599.3(ANO5):c.366C>A (p.Asp122Glu)
NM_213599.3(ANO5):c.375T>C (p.Asp125=)
NM_213599.3(ANO5):c.385T>C (p.Tyr129His) rs370952911
NM_213599.3(ANO5):c.392T>G (p.Val131Gly)
NM_213599.3(ANO5):c.393C>G (p.Val131=)
NM_213599.3(ANO5):c.395A>T (p.Lys132Met) rs1852872996
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn) rs375867377
NM_213599.3(ANO5):c.39A>G (p.Glu13=) rs774709754
NM_213599.3(ANO5):c.40+12C>T
NM_213599.3(ANO5):c.40+18_40+19delinsTC
NM_213599.3(ANO5):c.40+20C>T
NM_213599.3(ANO5):c.40+2T>C
NM_213599.3(ANO5):c.40+7C>G
NM_213599.3(ANO5):c.40+8C>T
NM_213599.3(ANO5):c.40+9G>C
NM_213599.3(ANO5):c.405C>G (p.Ala135=)
NM_213599.3(ANO5):c.407C>T (p.Pro136Leu)
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
NM_213599.3(ANO5):c.41-15_41-12del rs746608278
NM_213599.3(ANO5):c.41-4T>A rs2133520438
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter) rs1554924356
NM_213599.3(ANO5):c.414G>T (p.Glu138Asp) rs1421178168
NM_213599.3(ANO5):c.421G>C (p.Val141Leu) rs2133611690
NM_213599.3(ANO5):c.426C>A (p.Thr142=) rs2133611722
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
NM_213599.3(ANO5):c.43G>C (p.Glu15Gln) rs2133520474
NM_213599.3(ANO5):c.458T>C (p.Ile153Thr)
NM_213599.3(ANO5):c.462G>A (p.Lys154=) rs1590246084
NM_213599.3(ANO5):c.468T>C (p.Ser156=) rs2133611968
NM_213599.3(ANO5):c.474T>G (p.Ile158Met)
NM_213599.3(ANO5):c.512G>T (p.Gly171Val) rs977056246
NM_213599.3(ANO5):c.516T>C (p.Pro172=)
NM_213599.3(ANO5):c.526C>T (p.Pro176Ser)
NM_213599.3(ANO5):c.528A>G (p.Pro176=)
NM_213599.3(ANO5):c.534T>G (p.Ser178Arg) rs1852879821
NM_213599.3(ANO5):c.535G>A (p.Val179Met) rs1852879938
NM_213599.3(ANO5):c.543T>C (p.Tyr181=)
NM_213599.3(ANO5):c.544C>G (p.Pro182Ala)
NM_213599.3(ANO5):c.544_558del (p.Pro182_Tyr186del)
NM_213599.3(ANO5):c.546C>T (p.Pro182=)
NM_213599.3(ANO5):c.585G>T (p.Arg195=)
NM_213599.3(ANO5):c.589G>A (p.Glu197Lys) rs770413331
NM_213599.3(ANO5):c.597C>T (p.Phe199=) rs2133612787
NM_213599.3(ANO5):c.598C>G (p.Leu200Val) rs1323200040
NM_213599.3(ANO5):c.603C>A (p.Ile201=) rs182532539
NM_213599.3(ANO5):c.603C>T (p.Ile201=)
NM_213599.3(ANO5):c.607G>C (p.Asp203His) rs750779803
NM_213599.3(ANO5):c.615A>G (p.Ala205=) rs538420196
NM_213599.3(ANO5):c.617C>G (p.Thr206Ser) rs1852885137
NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del) rs774304728
NM_213599.3(ANO5):c.625C>G (p.Pro209Ala) rs2133612986
NM_213599.3(ANO5):c.633A>C (p.Ser211=) rs1239574532
NM_213599.3(ANO5):c.648+18T>C rs894945314
NM_213599.3(ANO5):c.648+22del rs1852887617
NM_213599.3(ANO5):c.648+4G>A
NM_213599.3(ANO5):c.648+4G>C
NM_213599.3(ANO5):c.648+5G>C rs752512585
NM_213599.3(ANO5):c.649-11T>C rs2133647759
NM_213599.3(ANO5):c.649-11T>G rs2133647759
NM_213599.3(ANO5):c.649-14C>T rs763172935
NM_213599.3(ANO5):c.649-2A>G rs773736505
NM_213599.3(ANO5):c.655T>C (p.Tyr219His)
NM_213599.3(ANO5):c.663C>T (p.Leu221=)
NM_213599.3(ANO5):c.681C>T (p.Gly227=)
NM_213599.3(ANO5):c.686A>G (p.Glu229Gly)
NM_213599.3(ANO5):c.721C>T (p.Leu241=)
NM_213599.3(ANO5):c.728C>A (p.Ser243Tyr) rs1853214556
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter) rs570341380
NM_213599.3(ANO5):c.738C>T (p.Tyr246=)
NM_213599.3(ANO5):c.741A>G (p.Ser247=) rs765749098
NM_213599.3(ANO5):c.742T>C (p.Ser248Pro)
NM_213599.3(ANO5):c.742T>G (p.Ser248Ala) rs751085690
NM_213599.3(ANO5):c.751C>A (p.Pro251Thr)
NM_213599.3(ANO5):c.751C>T (p.Pro251Ser) rs2133648746
NM_213599.3(ANO5):c.754C>G (p.Leu252Val)
NM_213599.3(ANO5):c.762+17T>C
NM_213599.3(ANO5):c.762+3_762+4del
NM_213599.3(ANO5):c.762+4T>C
NM_213599.3(ANO5):c.762+6T>G
NM_213599.3(ANO5):c.762+8_762+10del
NM_213599.3(ANO5):c.763-17C>A
NM_213599.3(ANO5):c.763-19T>C
NM_213599.3(ANO5):c.763-4G>T
NM_213599.3(ANO5):c.763-7T>G
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter) rs794727981
NM_213599.3(ANO5):c.768A>G (p.Gln256=) rs1374650064
NM_213599.3(ANO5):c.772T>C (p.Trp258Arg) rs747860868
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter) rs2133663216
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter) rs1590266227
NM_213599.3(ANO5):c.791C>G (p.Pro264Arg)
NM_213599.3(ANO5):c.794A>T (p.Asn265Ile) rs377553546
NM_213599.3(ANO5):c.811T>G (p.Tyr271Asp)
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter) rs1380525804
NM_213599.3(ANO5):c.816A>G (p.Thr272=)
NM_213599.3(ANO5):c.823C>G (p.Gln275Glu)
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter) rs766994696
NM_213599.3(ANO5):c.830G>T (p.Trp277Leu)
NM_213599.3(ANO5):c.832G>C (p.Ala278Pro)
NM_213599.3(ANO5):c.833C>T (p.Ala278Val) rs1853359096
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.3(ANO5):c.841T>C (p.Ser281Pro)
NM_213599.3(ANO5):c.842C>A (p.Ser281Tyr) rs1590266478
NM_213599.3(ANO5):c.851A>T (p.Tyr284Phe)
NM_213599.3(ANO5):c.863C>T (p.Pro288Leu)
NM_213599.3(ANO5):c.87+17T>C rs2133520951
NM_213599.3(ANO5):c.87+20A>G
NM_213599.3(ANO5):c.873_876del (p.Ile292fs) rs1458677325
NM_213599.3(ANO5):c.877A>C (p.Lys293Gln) rs1853361556
NM_213599.3(ANO5):c.878+1G>A
NM_213599.3(ANO5):c.879-11C>A
NM_213599.3(ANO5):c.879-11_879-10del
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.88-12del rs1239090613
NM_213599.3(ANO5):c.88-14C>T rs770721931
NM_213599.3(ANO5):c.88-1G>A
NM_213599.3(ANO5):c.88-5G>A rs1275678971
NM_213599.3(ANO5):c.88-8A>G rs1306192601
NM_213599.3(ANO5):c.88-8A>T
NM_213599.3(ANO5):c.898dup (p.Ile300fs) rs1383346134
NM_213599.3(ANO5):c.899T>A (p.Ile300Asn) rs886044659
NM_213599.3(ANO5):c.932C>A (p.Thr311Lys) rs1564935740
NM_213599.3(ANO5):c.932C>T (p.Thr311Ile)
NM_213599.3(ANO5):c.934G>A (p.Glu312Lys) rs1853761986
NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
NM_213599.3(ANO5):c.966A>G (p.Leu322=) rs7481951
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213599.3(ANO5):c.984C>T (p.Gly328=)
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter) rs373814281
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NM_213599.3(ANO5):c.991T>A (p.Ser331Thr)

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