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)
|
|
|