ClinVar Miner

List of variants in gene NEXMIF reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 754
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser) rs41306133 0.01057
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_001008537.3(NEXMIF):c.2154T>C (p.Asn718=) rs61741739 0.00368
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001008537.3(NEXMIF):c.855A>G (p.Leu285=) rs3762242 0.00184
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942 0.00061
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242 0.00059
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076 0.00055
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725 0.00055
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001008537.3(NEXMIF):c.2505C>T (p.His835=) rs143453497 0.00038
NM_001008537.3(NEXMIF):c.72A>G (p.Lys24=) rs200225698 0.00036
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001008537.3(NEXMIF):c.1716G>T (p.Glu572Asp) rs148005156 0.00028
NM_001008537.3(NEXMIF):c.4320C>T (p.Asn1440=) rs769979162 0.00027
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser) rs147908044 0.00026
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099 0.00022
NM_001008537.3(NEXMIF):c.3054C>T (p.Gly1018=) rs777042390 0.00021
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00017
NM_001008537.3(NEXMIF):c.2315G>A (p.Arg772His) rs142822527 0.00015
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157 0.00014
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451 0.00013
NM_001008537.3(NEXMIF):c.42C>T (p.Asn14=) rs370708043 0.00013
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=) rs142687313 0.00012
NM_001008537.3(NEXMIF):c.357G>A (p.Glu119=) rs142318614 0.00012
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001008537.3(NEXMIF):c.3102G>A (p.Leu1034=) rs775509800 0.00011
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln) rs138632224 0.00011
NM_001008537.3(NEXMIF):c.3460C>A (p.Pro1154Thr) rs781129973 0.00011
NM_001008537.3(NEXMIF):c.1712G>A (p.Ser571Asn) rs372044888 0.00010
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612 0.00010
NM_001008537.3(NEXMIF):c.2851G>A (p.Asp951Asn) rs771918287 0.00010
NM_001008537.3(NEXMIF):c.3001G>C (p.Val1001Leu) rs755462704 0.00010
NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888 0.00010
NM_001008537.3(NEXMIF):c.475C>T (p.Pro159Ser) rs149980277 0.00010
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr) rs752314023 0.00009
NM_001008537.3(NEXMIF):c.2849A>T (p.Tyr950Phe) rs373566578 0.00009
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=) rs371190782 0.00009
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001008537.3(NEXMIF):c.3055G>A (p.Asp1019Asn) rs771299521 0.00008
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887 0.00008
NM_001008537.3(NEXMIF):c.4065C>T (p.Tyr1355=) rs755840617 0.00008
NM_001008537.3(NEXMIF):c.4325C>T (p.Pro1442Leu) rs370429318 0.00008
NM_001008537.3(NEXMIF):c.4446T>G (p.Phe1482Leu) rs770781682 0.00008
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_001008537.3(NEXMIF):c.795T>C (p.Ile265=) rs780070252 0.00008
NM_001008537.3(NEXMIF):c.1132A>G (p.Lys378Glu) rs61741844 0.00007
NM_001008537.3(NEXMIF):c.4043A>G (p.His1348Arg) rs779047497 0.00007
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356 0.00007
NM_001008537.3(NEXMIF):c.1415C>G (p.Ser472Cys) rs770738202 0.00006
NM_001008537.3(NEXMIF):c.1889C>G (p.Ser630Cys) rs753726711 0.00006
NM_001008537.3(NEXMIF):c.2134C>A (p.Pro712Thr) rs1192882008 0.00006
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys) rs202207238 0.00006
NM_001008537.3(NEXMIF):c.4235G>A (p.Arg1412His) rs374045534 0.00006
NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His) rs778760434 0.00006
NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230 0.00006
NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln) rs151004644 0.00006
NM_001008537.3(NEXMIF):c.1121G>A (p.Gly374Glu) rs756593372 0.00005
NM_001008537.3(NEXMIF):c.1172A>G (p.Glu391Gly) rs775401715 0.00005
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126 0.00005
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) rs764843382 0.00005
NM_001008537.3(NEXMIF):c.2669C>T (p.Pro890Leu) rs377201508 0.00005
NM_001008537.3(NEXMIF):c.2845C>T (p.Leu949=) rs139108637 0.00005
NM_001008537.3(NEXMIF):c.3471A>C (p.Ser1157=) rs756196131 0.00005
NM_001008537.3(NEXMIF):c.3479A>G (p.Asn1160Ser) rs764370545 0.00005
NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His) rs143271748 0.00005
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=) rs148717498 0.00005
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile) rs145525836 0.00005
NM_001008537.3(NEXMIF):c.814C>T (p.Leu272=) rs756910026 0.00005
NM_001008537.3(NEXMIF):c.1261C>T (p.Leu421Phe) rs1320278331 0.00004
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992 0.00004
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu) rs758329821 0.00004
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys) rs927047621 0.00004
NM_001008537.3(NEXMIF):c.2784C>G (p.Leu928=) rs754561437 0.00004
NM_001008537.3(NEXMIF):c.2966G>A (p.Arg989Gln) rs140836456 0.00004
NM_001008537.3(NEXMIF):c.306A>T (p.Thr102=) rs766077577 0.00004
NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln) rs765054230 0.00004
NM_001008537.3(NEXMIF):c.413G>A (p.Cys138Tyr) rs754465132 0.00004
NM_001008537.3(NEXMIF):c.4217C>A (p.Ala1406Glu) rs775633155 0.00004
NM_001008537.3(NEXMIF):c.4267C>T (p.Arg1423Cys) rs200322426 0.00004
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_001008537.3(NEXMIF):c.4321G>A (p.Gly1441Arg) rs745720102 0.00004
NM_001008537.3(NEXMIF):c.4445T>C (p.Phe1482Ser) rs776659282 0.00004
NM_001008537.3(NEXMIF):c.55C>G (p.Leu19Val) rs1182566395 0.00004
NM_001008537.3(NEXMIF):c.783C>T (p.Phe261=) rs768534908 0.00004
NM_001008537.3(NEXMIF):c.813A>G (p.Glu271=) rs139899775 0.00004
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys) rs780581302 0.00003
NM_001008537.3(NEXMIF):c.1138T>C (p.Leu380=) rs367929163 0.00003
NM_001008537.3(NEXMIF):c.1161G>C (p.Glu387Asp) rs762881063 0.00003
NM_001008537.3(NEXMIF):c.1197T>C (p.Asp399=) rs770485188 0.00003
NM_001008537.3(NEXMIF):c.153G>A (p.Pro51=) rs147096194 0.00003
NM_001008537.3(NEXMIF):c.1797G>A (p.Thr599=) rs144467442 0.00003
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047 0.00003
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu) rs750889767 0.00003
NM_001008537.3(NEXMIF):c.2433G>A (p.Pro811=) rs375098045 0.00003
NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro) rs762983389 0.00003
NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=) rs139924662 0.00003
NM_001008537.3(NEXMIF):c.2545G>A (p.Glu849Lys) rs777607570 0.00003
NM_001008537.3(NEXMIF):c.2576A>G (p.Gln859Arg) rs747672466 0.00003
NM_001008537.3(NEXMIF):c.2587C>T (p.Leu863Phe) rs778485933 0.00003
NM_001008537.3(NEXMIF):c.2865T>C (p.Asp955=) rs150741514 0.00003
NM_001008537.3(NEXMIF):c.3165A>C (p.Ile1055=) rs200129547 0.00003
NM_001008537.3(NEXMIF):c.3396T>C (p.Asn1132=) rs751141907 0.00003
NM_001008537.3(NEXMIF):c.361G>T (p.Ala121Ser) rs769778503 0.00003
NM_001008537.3(NEXMIF):c.3637G>A (p.Gly1213Ser) rs757442837 0.00003
NM_001008537.3(NEXMIF):c.3826C>G (p.Gln1276Glu) rs754763619 0.00003
NM_001008537.3(NEXMIF):c.4089A>G (p.Lys1363=) rs745820364 0.00003
NM_001008537.3(NEXMIF):c.4326G>A (p.Pro1442=) rs141163613 0.00003
NM_001008537.3(NEXMIF):c.4464C>T (p.Ser1488=) rs189355247 0.00003
NM_001008537.3(NEXMIF):c.500T>C (p.Val167Ala) rs369067421 0.00003
NM_001008537.3(NEXMIF):c.637A>C (p.Arg213=) rs767229255 0.00003
NM_001008537.3(NEXMIF):c.1062C>T (p.Ala354=) rs756923541 0.00002
NM_001008537.3(NEXMIF):c.1134A>C (p.Lys378Asn) rs951587811 0.00002
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305 0.00002
NM_001008537.3(NEXMIF):c.1240A>G (p.Ser414Gly) rs756683147 0.00002
NM_001008537.3(NEXMIF):c.1394G>A (p.Arg465Gln) rs765125012 0.00002
NM_001008537.3(NEXMIF):c.1418C>T (p.Ser473Phe) rs1305966854 0.00002
NM_001008537.3(NEXMIF):c.1466G>A (p.Ser489Asn) rs760276075 0.00002
NM_001008537.3(NEXMIF):c.1545C>T (p.Ser515=) rs746170417 0.00002
NM_001008537.3(NEXMIF):c.1675G>A (p.Gly559Ser) rs1253434745 0.00002
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln) rs747436946 0.00002
NM_001008537.3(NEXMIF):c.2220C>T (p.Ser740=) rs751134435 0.00002
NM_001008537.3(NEXMIF):c.2260T>C (p.Ser754Pro) rs752311812 0.00002
NM_001008537.3(NEXMIF):c.2298G>T (p.Gly766=) rs151061671 0.00002
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser) rs1450517934 0.00002
NM_001008537.3(NEXMIF):c.2648G>C (p.Ser883Thr) rs1238438212 0.00002
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001008537.3(NEXMIF):c.2877A>T (p.Pro959=) rs1479765732 0.00002
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) rs779441513 0.00002
NM_001008537.3(NEXMIF):c.3191G>A (p.Arg1064His) rs770464262 0.00002
NM_001008537.3(NEXMIF):c.3288G>A (p.Lys1096=) rs376193494 0.00002
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) rs751468762 0.00002
NM_001008537.3(NEXMIF):c.3507C>T (p.Asn1169=) rs759384078 0.00002
NM_001008537.3(NEXMIF):c.3533A>G (p.Lys1178Arg) rs776561723 0.00002
NM_001008537.3(NEXMIF):c.419T>C (p.Met140Thr) rs766172626 0.00002
NM_001008537.3(NEXMIF):c.4231G>C (p.Gly1411Arg) rs769601623 0.00002
NM_001008537.3(NEXMIF):c.4234C>T (p.Arg1412Cys) rs146774692 0.00002
NM_001008537.3(NEXMIF):c.4257C>T (p.Asn1419=) rs764940962 0.00002
NM_001008537.3(NEXMIF):c.4274C>A (p.Thr1425Asn) rs1311150025 0.00002
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) rs774654591 0.00002
NM_001008537.3(NEXMIF):c.4380G>C (p.Glu1460Asp) rs2080097234 0.00002
NM_001008537.3(NEXMIF):c.4439del (p.Ala1480fs) rs2080096846 0.00002
NM_001008537.3(NEXMIF):c.4458-2A>G rs748987591 0.00002
NM_001008537.3(NEXMIF):c.4506A>G (p.Leu1502=) rs761846973 0.00002
NM_001008537.3(NEXMIF):c.652C>A (p.Arg218=) rs758719615 0.00002
NM_001008537.3(NEXMIF):c.764A>G (p.Asn255Ser) rs369569825 0.00002
NM_001008537.3(NEXMIF):c.798T>C (p.Ser266=) rs755707324 0.00002
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val) rs376455886 0.00002
NM_001008537.3(NEXMIF):c.965G>A (p.Arg322Gln) rs1220337073 0.00002
NM_001008537.3(NEXMIF):c.1034G>T (p.Cys345Phe) rs1362175878 0.00001
NM_001008537.3(NEXMIF):c.1075A>G (p.Ser359Gly) rs1052706131 0.00001
NM_001008537.3(NEXMIF):c.1166G>A (p.Gly389Glu) rs974217155 0.00001
NM_001008537.3(NEXMIF):c.1183G>A (p.Val395Ile) rs759540080 0.00001
NM_001008537.3(NEXMIF):c.1196A>G (p.Asp399Gly) rs776363168 0.00001
NM_001008537.3(NEXMIF):c.1234C>A (p.Pro412Thr) rs1240885021 0.00001
NM_001008537.3(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077 0.00001
NM_001008537.3(NEXMIF):c.1288G>A (p.Ala430Thr) rs1179610634 0.00001
NM_001008537.3(NEXMIF):c.1557T>C (p.Asp519=) rs781742366 0.00001
NM_001008537.3(NEXMIF):c.1577A>G (p.Lys526Arg) rs371692121 0.00001
NM_001008537.3(NEXMIF):c.1598G>A (p.Arg533His) rs752979291 0.00001
NM_001008537.3(NEXMIF):c.162A>T (p.Gln54His) rs769244538 0.00001
NM_001008537.3(NEXMIF):c.1695G>C (p.Glu565Asp) rs1303017755 0.00001
NM_001008537.3(NEXMIF):c.1728C>A (p.Asn576Lys) rs768265637 0.00001
NM_001008537.3(NEXMIF):c.172C>T (p.Leu58=) rs749419144 0.00001
NM_001008537.3(NEXMIF):c.1731A>G (p.Lys577=) rs1258552998 0.00001
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) rs776845564 0.00001
NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp) rs1404043155 0.00001
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.187G>A (p.Gly63Ser) rs191702381 0.00001
NM_001008537.3(NEXMIF):c.1904G>C (p.Arg635Thr) rs766086192 0.00001
NM_001008537.3(NEXMIF):c.1949G>A (p.Ser650Asn) rs1381067476 0.00001
NM_001008537.3(NEXMIF):c.2041G>A (p.Gly681Ser) rs775140424 0.00001
NM_001008537.3(NEXMIF):c.2062G>A (p.Gly688Arg) rs1466709402 0.00001
NM_001008537.3(NEXMIF):c.2064A>G (p.Gly688=) rs1259621795 0.00001
NM_001008537.3(NEXMIF):c.2118C>T (p.Asp706=) rs768992173 0.00001
NM_001008537.3(NEXMIF):c.2296G>A (p.Gly766Arg) rs1382088239 0.00001
NM_001008537.3(NEXMIF):c.2314C>T (p.Arg772Cys) rs998926695 0.00001
NM_001008537.3(NEXMIF):c.231G>A (p.Pro77=) rs757068776 0.00001
NM_001008537.3(NEXMIF):c.2320T>C (p.Ser774Pro) rs371138262 0.00001
NM_001008537.3(NEXMIF):c.2331T>C (p.His777=) rs762407174 0.00001
NM_001008537.3(NEXMIF):c.2341G>A (p.Ala781Thr) rs2080107838 0.00001
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556 0.00001
NM_001008537.3(NEXMIF):c.2369C>T (p.Thr790Met) rs1356318438 0.00001
NM_001008537.3(NEXMIF):c.2370G>A (p.Thr790=) rs745720231 0.00001
NM_001008537.3(NEXMIF):c.239C>T (p.Pro80Leu) rs1472519537 0.00001
NM_001008537.3(NEXMIF):c.2495A>G (p.Tyr832Cys) rs769168133 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001008537.3(NEXMIF):c.2694G>A (p.Gln898=) rs1418017809 0.00001
NM_001008537.3(NEXMIF):c.2720A>C (p.Glu907Ala) rs746824207 0.00001
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg) rs773043102 0.00001
NM_001008537.3(NEXMIF):c.2736A>G (p.Gln912=) rs764926301 0.00001
NM_001008537.3(NEXMIF):c.2782C>T (p.Leu928Phe) rs2080105276 0.00001
NM_001008537.3(NEXMIF):c.2795C>T (p.Thr932Ile) rs375607660 0.00001
NM_001008537.3(NEXMIF):c.2889T>C (p.Ser963=) rs201218179 0.00001
NM_001008537.3(NEXMIF):c.2920A>T (p.Ile974Phe) rs748858323 0.00001
NM_001008537.3(NEXMIF):c.2937G>T (p.Gln979His) rs1205089489 0.00001
NM_001008537.3(NEXMIF):c.3012T>C (p.Ser1004=) rs373588590 0.00001
NM_001008537.3(NEXMIF):c.3022T>C (p.Ser1008Pro) rs760616317 0.00001
NM_001008537.3(NEXMIF):c.3035A>G (p.Lys1012Arg) rs886086959 0.00001
NM_001008537.3(NEXMIF):c.303C>G (p.Leu101=) rs373296297 0.00001
NM_001008537.3(NEXMIF):c.3060T>C (p.Asp1020=) rs1336510318 0.00001
NM_001008537.3(NEXMIF):c.3087T>C (p.His1029=) rs1039271812 0.00001
NM_001008537.3(NEXMIF):c.3221C>T (p.Pro1074Leu) rs1346251253 0.00001
NM_001008537.3(NEXMIF):c.3222G>A (p.Pro1074=) rs748567167 0.00001
NM_001008537.3(NEXMIF):c.3294C>T (p.Phe1098=) rs756252858 0.00001
NM_001008537.3(NEXMIF):c.3304G>A (p.Val1102Ile) rs750439376 0.00001
NM_001008537.3(NEXMIF):c.3323G>A (p.Ser1108Asn) rs763992609 0.00001
NM_001008537.3(NEXMIF):c.3371A>T (p.Gln1124Leu) rs992677972 0.00001
NM_001008537.3(NEXMIF):c.3378G>A (p.Glu1126=) rs770681599 0.00001
NM_001008537.3(NEXMIF):c.3428A>T (p.Asp1143Val) rs1395565262 0.00001
NM_001008537.3(NEXMIF):c.342T>C (p.Leu114=) rs1569336011 0.00001
NM_001008537.3(NEXMIF):c.3430G>A (p.Glu1144Lys) rs1166467730 0.00001
NM_001008537.3(NEXMIF):c.3432G>A (p.Glu1144=) rs749616317 0.00001
NM_001008537.3(NEXMIF):c.3559A>G (p.Met1187Val) rs201176982 0.00001
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) rs1286509026 0.00001
NM_001008537.3(NEXMIF):c.3601C>T (p.Leu1201Phe) rs2080100813 0.00001
NM_001008537.3(NEXMIF):c.361G>A (p.Ala121Thr) rs769778503 0.00001
NM_001008537.3(NEXMIF):c.3701G>A (p.Gly1234Glu) rs367717986 0.00001
NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys) rs778573611 0.00001
NM_001008537.3(NEXMIF):c.3727C>T (p.Arg1243Cys) rs753744023 0.00001
NM_001008537.3(NEXMIF):c.3795T>A (p.Gly1265=) rs777043773 0.00001
NM_001008537.3(NEXMIF):c.3820C>T (p.Pro1274Ser) rs772208969 0.00001
NM_001008537.3(NEXMIF):c.3876C>A (p.Gly1292=) rs1443891211 0.00001
NM_001008537.3(NEXMIF):c.3927C>A (p.Asp1309Glu) rs938623851 0.00001
NM_001008537.3(NEXMIF):c.4004T>G (p.Met1335Arg) rs374471570 0.00001
NM_001008537.3(NEXMIF):c.4092A>T (p.Leu1364Phe) rs781061256 0.00001
NM_001008537.3(NEXMIF):c.4150G>A (p.Gly1384Arg) rs368234158 0.00001
NM_001008537.3(NEXMIF):c.4183A>T (p.Ile1395Phe) rs761850705 0.00001
NM_001008537.3(NEXMIF):c.4196G>C (p.Ser1399Thr) rs1228199830 0.00001
NM_001008537.3(NEXMIF):c.4204A>G (p.Asn1402Asp) rs1345044083 0.00001
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val) rs797045648 0.00001
NM_001008537.3(NEXMIF):c.4258G>A (p.Glu1420Lys) rs756589710 0.00001
NM_001008537.3(NEXMIF):c.4294A>T (p.Ser1432Cys) rs764248445 0.00001
NM_001008537.3(NEXMIF):c.4322G>A (p.Gly1441Glu) rs776481180 0.00001
NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg) rs771736722 0.00001
NM_001008537.3(NEXMIF):c.43G>A (p.Gly15Arg) rs752877406 0.00001
NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter) rs763067676 0.00001
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001008537.3(NEXMIF):c.4441T>C (p.Ser1481Pro) rs1395125782 0.00001
NM_001008537.3(NEXMIF):c.4449A>G (p.Glu1483=) rs148446893 0.00001
NM_001008537.3(NEXMIF):c.4465G>A (p.Asp1489Asn) rs751841142 0.00001
NM_001008537.3(NEXMIF):c.4467C>T (p.Asp1489=) rs373339344 0.00001
NM_001008537.3(NEXMIF):c.4478T>C (p.Leu1493Pro) rs770049770 0.00001
NM_001008537.3(NEXMIF):c.4492A>G (p.Thr1498Ala) rs754120882 0.00001
NM_001008537.3(NEXMIF):c.4531A>G (p.Ile1511Val) rs964004246 0.00001
NM_001008537.3(NEXMIF):c.4545C>T (p.Asp1515=) rs1436677639 0.00001
NM_001008537.3(NEXMIF):c.502G>A (p.Gly168Ser) rs771489500 0.00001
NM_001008537.3(NEXMIF):c.503G>C (p.Gly168Ala) rs2080117537 0.00001
NM_001008537.3(NEXMIF):c.528G>A (p.Thr176=) rs771772716 0.00001
NM_001008537.3(NEXMIF):c.538T>C (p.Ser180Pro) rs747924344 0.00001
NM_001008537.3(NEXMIF):c.544A>G (p.Ile182Val) rs1453061966 0.00001
NM_001008537.3(NEXMIF):c.61A>G (p.Asn21Asp) rs1364113624 0.00001
NM_001008537.3(NEXMIF):c.65G>A (p.Gly22Glu) rs1279118470 0.00001
NM_001008537.3(NEXMIF):c.669T>A (p.Pro223=) rs758858673 0.00001
NM_001008537.3(NEXMIF):c.690G>A (p.Pro230=) rs776754896 0.00001
NM_001008537.3(NEXMIF):c.80-17C>A rs1387151741 0.00001
NM_001008537.3(NEXMIF):c.825C>G (p.Leu275=) rs1171850209 0.00001
NM_001008537.3(NEXMIF):c.879C>T (p.Asn293=) rs754351667 0.00001
NM_001008537.3(NEXMIF):c.959A>G (p.Asn320Ser) rs762083058 0.00001
NM_001008537.3(NEXMIF):c.977C>G (p.Thr326Ser) rs768503508 0.00001
NC_000023.11:g.(?_74739385)_(74745670_?)del
NC_000023.11:g.(?_74739385)_(74745670_?)dup
NM_001008537.3(NEXMIF):c.1000C>T (p.Gln334Ter) rs2147441295
NM_001008537.3(NEXMIF):c.1002A>C (p.Gln334His) rs2080115341
NM_001008537.3(NEXMIF):c.1014T>C (p.Phe338=) rs2147441283
NM_001008537.3(NEXMIF):c.1020C>T (p.Ser340=)
NM_001008537.3(NEXMIF):c.103A>G (p.Met35Val)
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1043G>A (p.Arg348Gln) rs1450254955
NM_001008537.3(NEXMIF):c.1044dup (p.Glu349fs) rs2147441259
NM_001008537.3(NEXMIF):c.1047G>A (p.Glu349=)
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter) rs2080115006
NM_001008537.3(NEXMIF):c.1051A>G (p.Lys351Glu)
NM_001008537.3(NEXMIF):c.1055G>A (p.Ser352Asn)
NM_001008537.3(NEXMIF):c.105G>A (p.Met35Ile)
NM_001008537.3(NEXMIF):c.1084dup (p.Ser362fs) rs2147441229
NM_001008537.3(NEXMIF):c.1094A>G (p.Lys365Arg)
NM_001008537.3(NEXMIF):c.1111A>G (p.Ile371Val)
NM_001008537.3(NEXMIF):c.1114A>T (p.Ile372Phe)
NM_001008537.3(NEXMIF):c.1118G>A (p.Trp373Ter) rs2080114608
NM_001008537.3(NEXMIF):c.1118G>C (p.Trp373Ser)
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1123dup (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1129G>A (p.Asp377Asn)
NM_001008537.3(NEXMIF):c.1132A>C (p.Lys378Gln)
NM_001008537.3(NEXMIF):c.1146G>A (p.Lys382=)
NM_001008537.3(NEXMIF):c.1207A>G (p.Asn403Asp)
NM_001008537.3(NEXMIF):c.1212A>G (p.Gly404=)
NM_001008537.3(NEXMIF):c.1251A>G (p.Glu417=) rs1602212401
NM_001008537.3(NEXMIF):c.1264A>T (p.Lys422Ter)
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys) rs966045847
NM_001008537.3(NEXMIF):c.128C>T (p.Ala43Val)
NM_001008537.3(NEXMIF):c.1299G>A (p.Leu433=) rs2147441065
NM_001008537.3(NEXMIF):c.1300G>A (p.Glu434Lys) rs1569335738
NM_001008537.3(NEXMIF):c.1302G>C (p.Glu434Asp) rs2080113640
NM_001008537.3(NEXMIF):c.1305A>C (p.Thr435=)
NM_001008537.3(NEXMIF):c.1310G>A (p.Gly437Glu)
NM_001008537.3(NEXMIF):c.1313G>T (p.Ser438Ile)
NM_001008537.3(NEXMIF):c.1321G>A (p.Asp441Asn)
NM_001008537.3(NEXMIF):c.1321G>C (p.Asp441His)
NM_001008537.3(NEXMIF):c.1328G>A (p.Ser443Asn) rs1569335728
NM_001008537.3(NEXMIF):c.1337T>C (p.Ile446Thr)
NM_001008537.3(NEXMIF):c.1344C>T (p.Ile448=) rs1602212351
NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe) rs1569335723
NM_001008537.3(NEXMIF):c.1350T>G (p.Tyr450Ter) rs2147441019
NM_001008537.3(NEXMIF):c.1354G>T (p.Ala452Ser) rs1018986044
NM_001008537.3(NEXMIF):c.136C>T (p.Pro46Ser) rs762483701
NM_001008537.3(NEXMIF):c.1370A>G (p.Lys457Arg) rs1008249667
NM_001008537.3(NEXMIF):c.1378A>G (p.Ser460Gly) rs1004870160
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.13C>A (p.Gln5Lys) rs2147442662
NM_001008537.3(NEXMIF):c.1402A>T (p.Asn468Tyr)
NM_001008537.3(NEXMIF):c.1409G>T (p.Gly470Val) rs2080113226
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1419del (p.Ser474fs)
NM_001008537.3(NEXMIF):c.1437del (p.Leu480fs) rs2147440953
NM_001008537.3(NEXMIF):c.1441C>A (p.Arg481=) rs886041701
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.144_145delinsAA (p.Pro49Thr) rs2147441909
NM_001008537.3(NEXMIF):c.1460G>T (p.Arg487Ile) rs2080113049
NM_001008537.3(NEXMIF):c.1475A>T (p.Tyr492Phe) rs2147440935
NM_001008537.3(NEXMIF):c.1476T>A (p.Tyr492Ter) rs2147440933
NM_001008537.3(NEXMIF):c.1477C>G (p.Leu493Val)
NM_001008537.3(NEXMIF):c.1485T>C (p.Asp495=)
NM_001008537.3(NEXMIF):c.1501G>A (p.Gly501Ser) rs747796062
NM_001008537.3(NEXMIF):c.1501G>T (p.Gly501Cys)
NM_001008537.3(NEXMIF):c.150A>C (p.Thr50=)
NM_001008537.3(NEXMIF):c.1522A>G (p.Lys508Glu)
NM_001008537.3(NEXMIF):c.152C>A (p.Pro51Gln) rs200276575
NM_001008537.3(NEXMIF):c.152C>T (p.Pro51Leu)
NM_001008537.3(NEXMIF):c.1531C>T (p.Leu511=)
NM_001008537.3(NEXMIF):c.1533G>T (p.Leu511=) rs2147440886
NM_001008537.3(NEXMIF):c.1541G>A (p.Gly514Asp)
NM_001008537.3(NEXMIF):c.154G>A (p.Val52Met) rs747414246
NM_001008537.3(NEXMIF):c.156G>A (p.Val52=)
NM_001008537.3(NEXMIF):c.1584A>G (p.Arg528=)
NM_001008537.3(NEXMIF):c.1588A>G (p.Lys530Glu)
NM_001008537.3(NEXMIF):c.1588A>T (p.Lys530Ter)
NM_001008537.3(NEXMIF):c.1591del (p.Lys530_Val531insTer)
NM_001008537.3(NEXMIF):c.1595C>A (p.Thr532Asn) rs772899234
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.1605G>A (p.Glu535=)
NM_001008537.3(NEXMIF):c.1610_1611del (p.Pro537fs)
NM_001008537.3(NEXMIF):c.1629_1635dup (p.Asn546delinsHisHisTer) rs2147440783
NM_001008537.3(NEXMIF):c.1656G>T (p.Lys552Asn) rs2080112022
NM_001008537.3(NEXMIF):c.1666del (p.Leu555_Val556insTer)
NM_001008537.3(NEXMIF):c.1692T>G (p.Ser564Arg)
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) rs1569336346
NM_001008537.3(NEXMIF):c.170C>A (p.Thr57Asn)
NM_001008537.3(NEXMIF):c.1716G>A (p.Glu572=)
NM_001008537.3(NEXMIF):c.1749C>G (p.Pro583=) rs776062521
NM_001008537.3(NEXMIF):c.1768AAG[3] (p.Lys593del) rs752119872
NM_001008537.3(NEXMIF):c.1778A>C (p.Lys593Thr)
NM_001008537.3(NEXMIF):c.1783A>T (p.Arg595Ter) rs2147440709
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.1796C>T (p.Thr599Met)
NM_001008537.3(NEXMIF):c.1801T>G (p.Ser601Ala)
NM_001008537.3(NEXMIF):c.1809G>A (p.Lys603=) rs2147440679
NM_001008537.3(NEXMIF):c.1809G>C (p.Lys603Asn)
NM_001008537.3(NEXMIF):c.1814C>A (p.Pro605His)
NM_001008537.3(NEXMIF):c.1819T>C (p.Ser607Pro) rs2147440669
NM_001008537.3(NEXMIF):c.181C>A (p.Pro61Thr)
NM_001008537.3(NEXMIF):c.1841C>G (p.Pro614Arg)
NM_001008537.3(NEXMIF):c.1872T>C (p.Pro624=) rs2080110807
NM_001008537.3(NEXMIF):c.1873G>T (p.Ala625Ser)
NM_001008537.3(NEXMIF):c.1873del (p.Ala625fs) rs2147440618
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1883G>T (p.Arg628Leu) rs747436946
NM_001008537.3(NEXMIF):c.1919G>T (p.Arg640Ile)
NM_001008537.3(NEXMIF):c.192C>G (p.Leu64=) rs2147441868
NM_001008537.3(NEXMIF):c.1930A>G (p.Ile644Val)
NM_001008537.3(NEXMIF):c.1941A>G (p.Ser647=) rs2147440581
NM_001008537.3(NEXMIF):c.1942G>A (p.Ala648Thr) rs2080110354
NM_001008537.3(NEXMIF):c.194T>C (p.Leu65Pro)
NM_001008537.3(NEXMIF):c.1965A>G (p.Leu655=)
NM_001008537.3(NEXMIF):c.1984G>A (p.Ala662Thr)
NM_001008537.3(NEXMIF):c.1990A>G (p.Asn664Asp)
NM_001008537.3(NEXMIF):c.1994A>C (p.His665Pro) rs2080110064
NM_001008537.3(NEXMIF):c.1998AGA[1] (p.Glu667del) rs764439412
NM_001008537.3(NEXMIF):c.1999del (p.Glu667fs)
NM_001008537.3(NEXMIF):c.2006G>T (p.Gly669Val) rs2080109961
NM_001008537.3(NEXMIF):c.2007A>G (p.Gly669=) rs983488650
NM_001008537.3(NEXMIF):c.2031A>C (p.Ser677=) rs1177238694
NM_001008537.3(NEXMIF):c.2086G>A (p.Gly696Ser)
NM_001008537.3(NEXMIF):c.2087G>T (p.Gly696Val)
NM_001008537.3(NEXMIF):c.2088C>T (p.Gly696=) rs1227333624
NM_001008537.3(NEXMIF):c.2093A>C (p.Asp698Ala) rs1225690006
NM_001008537.3(NEXMIF):c.2094C>T (p.Asp698=)
NM_001008537.3(NEXMIF):c.2114A>G (p.Gln705Arg)
NM_001008537.3(NEXMIF):c.2122G>A (p.Glu708Lys) rs2147440464
NM_001008537.3(NEXMIF):c.2123_2124del (p.Glu708fs) rs2147440462
NM_001008537.3(NEXMIF):c.2146G>A (p.Val716Met)
NM_001008537.3(NEXMIF):c.2160C>T (p.Ile720=) rs2080108979
NM_001008537.3(NEXMIF):c.2165T>G (p.Phe722Cys)
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2175A>G (p.Glu725=)
NM_001008537.3(NEXMIF):c.2188T>A (p.Ser730Thr)
NM_001008537.3(NEXMIF):c.2208_2209del (p.Gly737fs)
NM_001008537.3(NEXMIF):c.2210G>T (p.Gly737Val) rs2080108808
NM_001008537.3(NEXMIF):c.2215G>T (p.Glu739Ter)
NM_001008537.3(NEXMIF):c.2227A>C (p.Ile743Leu)
NM_001008537.3(NEXMIF):c.2233C>A (p.Gln745Lys) rs2147440382
NM_001008537.3(NEXMIF):c.2247_2248del (p.Leu750fs)
NM_001008537.3(NEXMIF):c.2251G>A (p.Glu751Lys)
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) rs1569335485
NM_001008537.3(NEXMIF):c.2256C>T (p.Asn752=)
NM_001008537.3(NEXMIF):c.2257C>G (p.Gln753Glu)
NM_001008537.3(NEXMIF):c.2259A>G (p.Gln753=)
NM_001008537.3(NEXMIF):c.2262C>G (p.Ser754=)
NM_001008537.3(NEXMIF):c.2271del (p.Asn758fs)
NM_001008537.3(NEXMIF):c.2274_2278del (p.Asn758fs) rs2147440346
NM_001008537.3(NEXMIF):c.2280G>C (p.Lys760Asn)
NM_001008537.3(NEXMIF):c.2283T>C (p.Asn761=)
NM_001008537.3(NEXMIF):c.228C>A (p.Ser76Arg) rs2147441841
NM_001008537.3(NEXMIF):c.2293C>T (p.Pro765Ser) rs1432847439
NM_001008537.3(NEXMIF):c.2300C>T (p.Thr767Ile)
NM_001008537.3(NEXMIF):c.230C>T (p.Pro77Leu)
NM_001008537.3(NEXMIF):c.2324A>C (p.Glu775Ala) rs2080108002
NM_001008537.3(NEXMIF):c.2334G>A (p.Glu778=)
NM_001008537.3(NEXMIF):c.2347A>G (p.Lys783Glu)
NM_001008537.3(NEXMIF):c.2351G>C (p.Ser784Thr)
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.3(NEXMIF):c.2389C>A (p.Pro797Thr)
NM_001008537.3(NEXMIF):c.2394A>T (p.Leu798Phe)
NM_001008537.3(NEXMIF):c.2396C>A (p.Ser799Ter)
NM_001008537.3(NEXMIF):c.2397A>T (p.Ser799=)
NM_001008537.3(NEXMIF):c.2400del (p.Ala801fs) rs2080107446
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp) rs1003126361
NM_001008537.3(NEXMIF):c.2406T>A (p.Asn802Lys) rs1307046706
NM_001008537.3(NEXMIF):c.2407G>A (p.Val803Ile)
NM_001008537.3(NEXMIF):c.2410A>G (p.Thr804Ala)
NM_001008537.3(NEXMIF):c.2434G>A (p.Gly812Arg)
NM_001008537.3(NEXMIF):c.2445G>A (p.Leu815=) rs1217189210
NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)
NM_001008537.3(NEXMIF):c.2476A>G (p.Asn826Asp)
NM_001008537.3(NEXMIF):c.2478_2479dup (p.Asn827fs)
NM_001008537.3(NEXMIF):c.2486G>T (p.Ser829Ile) rs1602211742
NM_001008537.3(NEXMIF):c.2496C>T (p.Tyr832=)
NM_001008537.3(NEXMIF):c.249G>C (p.Leu83=) rs2147441817
NM_001008537.3(NEXMIF):c.2518del (p.Gln840fs)
NM_001008537.3(NEXMIF):c.2521A>G (p.Asn841Asp) rs2147440160
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg) rs770067542
NM_001008537.3(NEXMIF):c.2528G>A (p.Gly843Asp) rs2080106653
NM_001008537.3(NEXMIF):c.2536dup (p.Thr846fs) rs2147440148
NM_001008537.3(NEXMIF):c.2537C>T (p.Thr846Ile)
NM_001008537.3(NEXMIF):c.2538T>G (p.Thr846=) rs1436286614
NM_001008537.3(NEXMIF):c.2550A>G (p.Lys850=) rs2147440131
NM_001008537.3(NEXMIF):c.2554T>C (p.Phe852Leu) rs2080106412
NM_001008537.3(NEXMIF):c.2566C>T (p.Gln856Ter)
NM_001008537.3(NEXMIF):c.2575C>T (p.Gln859Ter)
NM_001008537.3(NEXMIF):c.2595A>C (p.Ser865=)
NM_001008537.3(NEXMIF):c.25A>G (p.Ile9Val)
NM_001008537.3(NEXMIF):c.261C>T (p.Pro87=) rs758313606
NM_001008537.3(NEXMIF):c.2625del (p.His876fs) rs2147440078
NM_001008537.3(NEXMIF):c.2640G>T (p.Met880Ile)
NM_001008537.3(NEXMIF):c.2648G>A (p.Ser883Asn) rs1238438212
NM_001008537.3(NEXMIF):c.2649C>A (p.Ser883Arg)
NM_001008537.3(NEXMIF):c.2649C>T (p.Ser883=) rs2080105905
NM_001008537.3(NEXMIF):c.264A>C (p.Glu88Asp) rs2080118588
NM_001008537.3(NEXMIF):c.2654A>C (p.Tyr885Ser) rs1276495540
NM_001008537.3(NEXMIF):c.2655T>C (p.Tyr885=) rs2147440058
NM_001008537.3(NEXMIF):c.2656A>T (p.Arg886Ter) rs2147440054
NM_001008537.3(NEXMIF):c.2665T>C (p.Trp889Arg)
NM_001008537.3(NEXMIF):c.2673C>T (p.Asn891=) rs1268182812
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) rs1556016438
NM_001008537.3(NEXMIF):c.2676G>A (p.Lys892=)
NM_001008537.3(NEXMIF):c.2680A>G (p.Thr894Ala) rs2147440033
NM_001008537.3(NEXMIF):c.2691C>T (p.Thr897=)
NM_001008537.3(NEXMIF):c.2692C>A (p.Gln898Lys) rs2147440019
NM_001008537.3(NEXMIF):c.2717G>C (p.Arg906Thr) rs2080105540
NM_001008537.3(NEXMIF):c.2733C>T (p.Thr911=)
NM_001008537.3(NEXMIF):c.274A>G (p.Asn92Asp) rs750628228
NM_001008537.3(NEXMIF):c.2752G>T (p.Ala918Ser) rs761389526
NM_001008537.3(NEXMIF):c.2763A>G (p.Val921=)
NM_001008537.3(NEXMIF):c.2775A>C (p.Glu925Asp)
NM_001008537.3(NEXMIF):c.2788C>G (p.Pro930Ala)
NM_001008537.3(NEXMIF):c.278G>T (p.Ser93Ile)
NM_001008537.3(NEXMIF):c.2795C>G (p.Thr932Arg) rs375607660
NM_001008537.3(NEXMIF):c.2799C>A (p.Tyr933Ter) rs2147439956
NM_001008537.3(NEXMIF):c.279T>C (p.Ser93=)
NM_001008537.3(NEXMIF):c.2816del (p.Asn939fs) rs2147439932
NM_001008537.3(NEXMIF):c.2820del (p.Ser940fs)
NM_001008537.3(NEXMIF):c.2830A>G (p.Asn944Asp)
NM_001008537.3(NEXMIF):c.2835C>A (p.Cys945Ter) rs2080104883
NM_001008537.3(NEXMIF):c.2835C>G (p.Cys945Trp) rs2080104883
NM_001008537.3(NEXMIF):c.2841G>A (p.Lys947=) rs772632995
NM_001008537.3(NEXMIF):c.2841G>C (p.Lys947Asn) rs772632995
NM_001008537.3(NEXMIF):c.2841G>T (p.Lys947Asn) rs772632995
NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys) rs373566578
NM_001008537.3(NEXMIF):c.2869del (p.Gln957fs)
NM_001008537.3(NEXMIF):c.2886C>T (p.Asp962=)
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.2895A>G (p.Gln965=) rs1556016407
NM_001008537.3(NEXMIF):c.2898dup (p.Cys967fs) rs2080104332
NM_001008537.3(NEXMIF):c.2909A>G (p.Asn970Ser)
NM_001008537.3(NEXMIF):c.2929C>T (p.Pro977Ser) rs2080104099
NM_001008537.3(NEXMIF):c.2938C>T (p.Gln980Ter) rs369835611
NM_001008537.3(NEXMIF):c.2942G>T (p.Gly981Val) rs745545606
NM_001008537.3(NEXMIF):c.2944C>T (p.Pro982Ser)
NM_001008537.3(NEXMIF):c.2962G>C (p.Gly988Arg) rs2147439813
NM_001008537.3(NEXMIF):c.298T>A (p.Ser100Thr) rs1602212931
NM_001008537.3(NEXMIF):c.2992C>T (p.Pro998Ser)
NM_001008537.3(NEXMIF):c.2999C>T (p.Ser1000Phe) rs2080103689
NM_001008537.3(NEXMIF):c.299C>T (p.Ser100Phe)
NM_001008537.3(NEXMIF):c.3011G>C (p.Ser1004Thr) rs1602211422
NM_001008537.3(NEXMIF):c.3011G>T (p.Ser1004Ile) rs1602211422
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) rs1556016381
NM_001008537.3(NEXMIF):c.3026T>G (p.Leu1009Ter) rs2147439776
NM_001008537.3(NEXMIF):c.3031T>C (p.Leu1011=)
NM_001008537.3(NEXMIF):c.3041G>A (p.Cys1014Tyr)
NM_001008537.3(NEXMIF):c.3050A>T (p.Asp1017Val)
NM_001008537.3(NEXMIF):c.3056del (p.Asp1019fs)
NM_001008537.3(NEXMIF):c.3057T>C (p.Asp1019=)
NM_001008537.3(NEXMIF):c.3066C>A (p.Ile1022=)
NM_001008537.3(NEXMIF):c.3090C>A (p.Cys1030Ter)
NM_001008537.3(NEXMIF):c.3092G>A (p.Ser1031Asn) rs2147439711
NM_001008537.3(NEXMIF):c.3093C>T (p.Ser1031=)
NM_001008537.3(NEXMIF):c.3103G>T (p.Val1035Leu)
NM_001008537.3(NEXMIF):c.3107T>C (p.Ile1036Thr) rs2147439702
NM_001008537.3(NEXMIF):c.3109C>T (p.Gln1037Ter)
NM_001008537.3(NEXMIF):c.3118A>G (p.Ile1040Val)
NM_001008537.3(NEXMIF):c.3119T>C (p.Ile1040Thr)
NM_001008537.3(NEXMIF):c.311G>C (p.Gly104Ala)
NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp) rs1569335193
NM_001008537.3(NEXMIF):c.3174C>T (p.Phe1058=) rs2147439669
NM_001008537.3(NEXMIF):c.3198T>C (p.Ser1066=) rs2147439655
NM_001008537.3(NEXMIF):c.3216C>T (p.Ser1072=) rs2147439646
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) rs1556016352
NM_001008537.3(NEXMIF):c.3227C>A (p.Thr1076Asn) rs2080102579
NM_001008537.3(NEXMIF):c.3228C>T (p.Thr1076=)
NM_001008537.3(NEXMIF):c.3229C>T (p.Pro1077Ser) rs2147439624
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) rs1556016350
NM_001008537.3(NEXMIF):c.3237T>C (p.Leu1079=) rs2080102525
NM_001008537.3(NEXMIF):c.3258T>A (p.Cys1086Ter)
NM_001008537.3(NEXMIF):c.327G>A (p.Leu109=)
NM_001008537.3(NEXMIF):c.3282A>G (p.Thr1094=)
NM_001008537.3(NEXMIF):c.3301G>A (p.Gly1101Ser) rs1461176254
NM_001008537.3(NEXMIF):c.3301G>T (p.Gly1101Cys)
NM_001008537.3(NEXMIF):c.3302G>A (p.Gly1101Asp)
NM_001008537.3(NEXMIF):c.3308del (p.Pro1103fs)
NM_001008537.3(NEXMIF):c.3314_3321del (p.Pro1105fs) rs2147439558
NM_001008537.3(NEXMIF):c.3316T>C (p.Leu1106=)
NM_001008537.3(NEXMIF):c.3321C>T (p.Asp1107=)
NM_001008537.3(NEXMIF):c.3325G>A (p.Val1109Met) rs948687949
NM_001008537.3(NEXMIF):c.3325G>C (p.Val1109Leu)
NM_001008537.3(NEXMIF):c.3328G>C (p.Glu1110Gln)
NM_001008537.3(NEXMIF):c.3334A>G (p.Ile1112Val)
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) rs1569335135
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser) rs2080102020
NM_001008537.3(NEXMIF):c.334T>A (p.Trp112Arg) rs2080118303
NM_001008537.3(NEXMIF):c.3350G>A (p.Ser1117Asn) rs2080101983
NM_001008537.3(NEXMIF):c.3353C>T (p.Thr1118Ile) rs2080101970
NM_001008537.3(NEXMIF):c.3364C>A (p.Gln1122Lys)
NM_001008537.3(NEXMIF):c.3373A>G (p.Met1125Val)
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.3(NEXMIF):c.3376G>T (p.Glu1126Ter) rs2147439516
NM_001008537.3(NEXMIF):c.3395A>G (p.Asn1132Ser)
NM_001008537.3(NEXMIF):c.3415C>T (p.His1139Tyr)
NM_001008537.3(NEXMIF):c.3418A>T (p.Met1140Leu)
NM_001008537.3(NEXMIF):c.3424A>G (p.Asn1142Asp)
NM_001008537.3(NEXMIF):c.3425A>G (p.Asn1142Ser) rs2080101661
NM_001008537.3(NEXMIF):c.3427G>C (p.Asp1143His) rs267606510
NM_001008537.3(NEXMIF):c.3427G>T (p.Asp1143Tyr)
NM_001008537.3(NEXMIF):c.3439G>C (p.Val1147Leu) rs1569335080
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3460C>T (p.Pro1154Ser)
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) rs1281329703
NM_001008537.3(NEXMIF):c.3486A>G (p.Pro1162=)
NM_001008537.3(NEXMIF):c.3499A>G (p.Ser1167Gly)
NM_001008537.3(NEXMIF):c.3514G>C (p.Val1172Leu)
NM_001008537.3(NEXMIF):c.3524C>A (p.Ser1175Ter) rs2080101130
NM_001008537.3(NEXMIF):c.354_355dup (p.Glu119fs)
NM_001008537.3(NEXMIF):c.3560T>G (p.Met1187Arg)
NM_001008537.3(NEXMIF):c.3586A>G (p.Thr1196Ala)
NM_001008537.3(NEXMIF):c.3591G>A (p.Arg1197=)
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.3600C>T (p.Ser1200=)
NM_001008537.3(NEXMIF):c.3612C>G (p.Asn1204Lys)
NM_001008537.3(NEXMIF):c.3612CAA[1] (p.Asn1205del) rs747035793
NM_001008537.3(NEXMIF):c.3633A>G (p.Pro1211=) rs2080100632
NM_001008537.3(NEXMIF):c.3638G>A (p.Gly1213Asp) rs1602210996
NM_001008537.3(NEXMIF):c.3639C>G (p.Gly1213=)
NM_001008537.3(NEXMIF):c.3641A>G (p.Lys1214Arg)
NM_001008537.3(NEXMIF):c.3648C>T (p.Ser1216=)
NM_001008537.3(NEXMIF):c.3649C>T (p.Arg1217Cys)
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) rs946717276
NM_001008537.3(NEXMIF):c.3678G>A (p.Gly1226=) rs754483203
NM_001008537.3(NEXMIF):c.3682T>C (p.Tyr1228His) rs2080100368
NM_001008537.3(NEXMIF):c.3685A>G (p.Met1229Val)
NM_001008537.3(NEXMIF):c.370G>A (p.Ala124Thr)
NM_001008537.3(NEXMIF):c.3718G>A (p.Gly1240Ser)
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.3730G>C (p.Gly1244Arg)
NM_001008537.3(NEXMIF):c.3737G>A (p.Ser1246Asn)
NM_001008537.3(NEXMIF):c.3756C>T (p.Ser1252=)
NM_001008537.3(NEXMIF):c.3776C>A (p.Ala1259Asp)
NM_001008537.3(NEXMIF):c.3782G>C (p.Cys1261Ser) rs1339493509
NM_001008537.3(NEXMIF):c.3789A>G (p.Gln1263=)
NM_001008537.3(NEXMIF):c.3797G>A (p.Gly1266Asp) rs2147439197
NM_001008537.3(NEXMIF):c.3799C>A (p.Pro1267Thr)
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) rs1569334937
NM_001008537.3(NEXMIF):c.3805G>A (p.Ala1269Thr) rs2147439186
NM_001008537.3(NEXMIF):c.3808T>A (p.Ser1270Thr)
NM_001008537.3(NEXMIF):c.3811A>G (p.Met1271Val) rs2080099681
NM_001008537.3(NEXMIF):c.3814A>T (p.Lys1272Ter) rs2147439176
NM_001008537.3(NEXMIF):c.3838T>C (p.Ser1280Pro) rs2080099568
NM_001008537.3(NEXMIF):c.383C>T (p.Pro128Leu)
NM_001008537.3(NEXMIF):c.3850G>A (p.Ala1284Thr)
NM_001008537.3(NEXMIF):c.3858G>A (p.Gly1286=)
NM_001008537.3(NEXMIF):c.385G>T (p.Ala129Ser)
NM_001008537.3(NEXMIF):c.3880A>C (p.Ser1294Arg)
NM_001008537.3(NEXMIF):c.3895G>A (p.Gly1299Ser) rs2080099383
NM_001008537.3(NEXMIF):c.3919G>A (p.Asp1307Asn) rs2147439105
NM_001008537.3(NEXMIF):c.391A>C (p.Met131Leu) rs1035850008
NM_001008537.3(NEXMIF):c.393G>A (p.Met131Ile)
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu) rs1602212849
NM_001008537.3(NEXMIF):c.398C>T (p.Ala133Val) rs2147441684
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
NM_001008537.3(NEXMIF):c.4011C>T (p.Ser1337=)
NM_001008537.3(NEXMIF):c.4018C>G (p.Pro1340Ala) rs2147439059
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4061T>G (p.Phe1354Cys)
NM_001008537.3(NEXMIF):c.4074G>T (p.Glu1358Asp) rs1315310568
NM_001008537.3(NEXMIF):c.4079A>G (p.Asn1360Ser)
NM_001008537.3(NEXMIF):c.4090_4095del (p.1362LK[1]) rs2147439001
NM_001008537.3(NEXMIF):c.4120C>G (p.Pro1374Ala)
NM_001008537.3(NEXMIF):c.4124A>C (p.Gln1375Pro) rs2080098548
NM_001008537.3(NEXMIF):c.4135A>G (p.Lys1379Glu) rs2147438964
NM_001008537.3(NEXMIF):c.4140G>T (p.Lys1380Asn) rs2080098467
NM_001008537.3(NEXMIF):c.4142T>A (p.Ile1381Asn) rs2080098457
NM_001008537.3(NEXMIF):c.414T>C (p.Cys138=)
NM_001008537.3(NEXMIF):c.4151G>C (p.Gly1384Ala) rs867540263
NM_001008537.3(NEXMIF):c.4152G>A (p.Gly1384=)
NM_001008537.3(NEXMIF):c.4159G>A (p.Gly1387Arg) rs2147438927
NM_001008537.3(NEXMIF):c.4159G>C (p.Gly1387Arg) rs2147438927
NM_001008537.3(NEXMIF):c.4162G>A (p.Ala1388Thr)
NM_001008537.3(NEXMIF):c.4177A>G (p.Arg1393Gly) rs1602210656
NM_001008537.3(NEXMIF):c.4178G>A (p.Arg1393Lys) rs2147438908
NM_001008537.3(NEXMIF):c.4185C>T (p.Ile1395=) rs1287267335
NM_001008537.3(NEXMIF):c.4189G>C (p.Gly1397Arg) rs2080098214
NM_001008537.3(NEXMIF):c.4189G>T (p.Gly1397Cys) rs2080098214
NM_001008537.3(NEXMIF):c.420G>T (p.Met140Ile)
NM_001008537.3(NEXMIF):c.4219A>G (p.Ile1407Val)
NM_001008537.3(NEXMIF):c.4221A>T (p.Ile1407=) rs1346042581
NM_001008537.3(NEXMIF):c.422del (p.Gln141fs) rs878854418
NM_001008537.3(NEXMIF):c.4235G>T (p.Arg1412Leu) rs374045534
NM_001008537.3(NEXMIF):c.4273A>G (p.Thr1425Ala) rs2147438800
NM_001008537.3(NEXMIF):c.427A>C (p.Ser143Arg)
NM_001008537.3(NEXMIF):c.4294A>G (p.Ser1432Gly) rs764248445
NM_001008537.3(NEXMIF):c.4298A>G (p.Asn1433Ser) rs2080097585
NM_001008537.3(NEXMIF):c.4303A>G (p.Ser1435Gly)
NM_001008537.3(NEXMIF):c.431G>A (p.Arg144Gln) rs1029069870
NM_001008537.3(NEXMIF):c.4324C>T (p.Pro1442Ser) rs1198098760
NM_001008537.3(NEXMIF):c.4325C>A (p.Pro1442Gln)
NM_001008537.3(NEXMIF):c.4325C>G (p.Pro1442Arg)
NM_001008537.3(NEXMIF):c.4337A>T (p.Lys1446Met)
NM_001008537.3(NEXMIF):c.434C>G (p.Thr145Ser)
NM_001008537.3(NEXMIF):c.434C>T (p.Thr145Ile)
NM_001008537.3(NEXMIF):c.4382_4383del (p.Lys1461fs) rs2080097220
NM_001008537.3(NEXMIF):c.4399A>G (p.Met1467Val) rs1057098571
NM_001008537.3(NEXMIF):c.4404G>A (p.Glu1468=) rs2147438678
NM_001008537.3(NEXMIF):c.4408G>T (p.Glu1470Ter)
NM_001008537.3(NEXMIF):c.4414G>A (p.Val1472Ile)
NM_001008537.3(NEXMIF):c.4457+14A>C
NM_001008537.3(NEXMIF):c.4457+17A>G rs2147438624
NM_001008537.3(NEXMIF):c.4457+1G>A rs2147438629
NM_001008537.3(NEXMIF):c.4458-13G>A rs879176331
NM_001008537.3(NEXMIF):c.4460A>G (p.Asp1487Gly) rs2080094985
NM_001008537.3(NEXMIF):c.4464C>A (p.Ser1488=) rs189355247
NM_001008537.3(NEXMIF):c.4472A>G (p.Asn1491Ser)
NM_001008537.3(NEXMIF):c.4493C>A (p.Thr1498Asn)
NM_001008537.3(NEXMIF):c.4494C>T (p.Thr1498=)
NM_001008537.3(NEXMIF):c.4502T>A (p.Val1501Asp) rs2080094736
NM_001008537.3(NEXMIF):c.4508C>T (p.Pro1503Leu)
NM_001008537.3(NEXMIF):c.4529G>A (p.Arg1510His)
NM_001008537.3(NEXMIF):c.452T>C (p.Met151Thr)
NM_001008537.3(NEXMIF):c.4545C>G (p.Asp1515Glu) rs1436677639
NM_001008537.3(NEXMIF):c.459C>T (p.Ser153=) rs2080117700
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001008537.3(NEXMIF):c.505G>A (p.Asp169Asn) rs1569335941
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs) rs1602212778
NM_001008537.3(NEXMIF):c.513T>C (p.Asn171=)
NM_001008537.3(NEXMIF):c.520del (p.Tyr174fs)
NM_001008537.3(NEXMIF):c.521A>G (p.Tyr174Cys)
NM_001008537.3(NEXMIF):c.527C>T (p.Thr176Met)
NM_001008537.3(NEXMIF):c.528G>T (p.Thr176=) rs771772716
NM_001008537.3(NEXMIF):c.541G>T (p.Asp181Tyr)
NM_001008537.3(NEXMIF):c.562A>G (p.Asn188Asp)
NM_001008537.3(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.3(NEXMIF):c.571G>T (p.Glu191Ter) rs2147441539
NM_001008537.3(NEXMIF):c.589G>T (p.Glu197Ter) rs2080117161
NM_001008537.3(NEXMIF):c.617dup (p.Phe207fs) rs2080117124
NM_001008537.3(NEXMIF):c.618C>A (p.Gly206=) rs2147441518
NM_001008537.3(NEXMIF):c.621C>T (p.Phe207=)
NM_001008537.3(NEXMIF):c.630dup (p.Lys211Ter)
NM_001008537.3(NEXMIF):c.635C>G (p.Ser212Ter) rs2080117063
NM_001008537.3(NEXMIF):c.644G>C (p.Gly215Ala)
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.659C>A (p.Thr220Asn) rs778374350
NM_001008537.3(NEXMIF):c.679T>C (p.Leu227=)
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter) rs2080116822
NM_001008537.3(NEXMIF):c.69C>A (p.Val23=)
NM_001008537.3(NEXMIF):c.713del (p.Ala238fs)
NM_001008537.3(NEXMIF):c.717A>G (p.Leu239=)
NM_001008537.3(NEXMIF):c.718C>G (p.Leu240Val)
NM_001008537.3(NEXMIF):c.736dup (p.Thr246fs)
NM_001008537.3(NEXMIF):c.738A>G (p.Thr246=)
NM_001008537.3(NEXMIF):c.738A>T (p.Thr246=)
NM_001008537.3(NEXMIF):c.742G>A (p.Glu248Lys) rs2080116691
NM_001008537.3(NEXMIF):c.743A>C (p.Glu248Ala)
NM_001008537.3(NEXMIF):c.746del (p.Ala249fs) rs2080116669
NM_001008537.3(NEXMIF):c.755C>T (p.Ala252Val)
NM_001008537.3(NEXMIF):c.757A>C (p.Asn253His)
NM_001008537.3(NEXMIF):c.764A>T (p.Asn255Ile)
NM_001008537.3(NEXMIF):c.78T>C (p.Asn26=) rs2147442601
NM_001008537.3(NEXMIF):c.79+14A>G
NM_001008537.3(NEXMIF):c.79+20G>C
NM_001008537.3(NEXMIF):c.79+3A>G rs2080123764
NM_001008537.3(NEXMIF):c.80-21_80-20del
NM_001008537.3(NEXMIF):c.804_807del (p.Ser268fs) rs2080116341
NM_001008537.3(NEXMIF):c.811G>T (p.Glu271Ter)
NM_001008537.3(NEXMIF):c.843G>A (p.Leu281=)
NM_001008537.3(NEXMIF):c.843G>C (p.Leu281=)
NM_001008537.3(NEXMIF):c.846_849del (p.Val283fs) rs1602212618
NM_001008537.3(NEXMIF):c.84A>G (p.Ser28=)
NM_001008537.3(NEXMIF):c.864AGA[1] (p.Glu289del)
NM_001008537.3(NEXMIF):c.875A>G (p.Asp292Gly) rs2080115926
NM_001008537.3(NEXMIF):c.879C>G (p.Asn293Lys)
NM_001008537.3(NEXMIF):c.880dup (p.Tyr294fs)
NM_001008537.3(NEXMIF):c.882C>A (p.Tyr294Ter)
NM_001008537.3(NEXMIF):c.897T>C (p.Asp299=)
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) rs2080115822
NM_001008537.3(NEXMIF):c.907C>T (p.Leu303=) rs2080115822
NM_001008537.3(NEXMIF):c.910G>A (p.Gly304Ser)
NM_001008537.3(NEXMIF):c.91C>G (p.Gln31Glu)
NM_001008537.3(NEXMIF):c.924C>T (p.Cys308=) rs2147441334
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.938G>A (p.Arg313Gln) rs1247214773
NM_001008537.3(NEXMIF):c.939dup (p.Tyr314fs)
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001008537.3(NEXMIF):c.969C>T (p.Asp323=)
NM_001008537.3(NEXMIF):c.971_980dup (p.Leu328fs)
NM_001008537.3(NEXMIF):c.984G>C (p.Leu328Phe)
NM_001008537.3(NEXMIF):c.995A>G (p.Asp332Gly) rs2147441298

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