ClinVar Miner

List of variants in gene PRX studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1086
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_181882.3(PRX):c.554G>A (p.Arg185His) rs76756143 0.00292
NM_181882.3(PRX):c.3702C>T (p.Gly1234=) rs139950446 0.00291
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_181882.3(PRX):c.*144C>T rs189487790 0.00143
NM_181882.3(PRX):c.719G>A (p.Arg240Gln) rs77917609 0.00140
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln) rs146205352 0.00135
NM_181882.3(PRX):c.580C>T (p.Arg194Cys) rs45521038 0.00109
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00099
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_181882.3(PRX):c.2494G>C (p.Val832Leu) rs116139153 0.00077
NM_181882.3(PRX):c.2094A>G (p.Glu698=) rs1396877491 0.00075
NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser) rs186086914 0.00067
NM_181882.3(PRX):c.499C>T (p.Arg167Cys) rs10425452 0.00062
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr) rs145203783 0.00052
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_181882.3(PRX):c.2832T>C (p.Ala944=) rs145226687 0.00046
NM_181882.3(PRX):c.381+18G>A rs147585269 0.00046
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu) rs144530674 0.00042
NM_181882.3(PRX):c.966G>T (p.Val322=) rs139544245 0.00042
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln) rs142436702 0.00038
NM_181882.3(PRX):c.540G>A (p.Pro180=) rs371243093 0.00036
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_181882.3(PRX):c.2817G>A (p.Ser939=) rs112544351 0.00034
NM_181882.3(PRX):c.3324G>A (p.Glu1108=) rs111964746 0.00034
NM_181882.3(PRX):c.3960C>T (p.Ala1320=) rs149626915 0.00034
NM_181882.3(PRX):c.960G>A (p.Ser320=) rs775367319 0.00033
NM_181882.3(PRX):c.285C>T (p.Cys95=) rs531527827 0.00032
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_181882.3(PRX):c.2106C>T (p.Pro702=) rs183461864 0.00027
NM_181882.3(PRX):c.2837C>T (p.Ala946Val) rs139700059 0.00026
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro) rs550446238 0.00025
NM_181882.3(PRX):c.3306C>T (p.Val1102=) rs774667067 0.00022
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00022
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_181882.3(PRX):c.1510C>T (p.Leu504Phe) rs192607896 0.00021
NM_181882.3(PRX):c.2190C>G (p.Pro730=) rs1336238948 0.00021
NM_181882.3(PRX):c.1987C>T (p.Pro663Ser) rs149183991 0.00020
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr) rs565094384 0.00019
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro) rs149093940 0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_181882.3(PRX):c.2199T>C (p.Pro733=) rs1277285038 0.00018
NM_181882.3(PRX):c.2091T>C (p.Pro697=) rs1390777490 0.00017
NM_181882.3(PRX):c.2278G>A (p.Val760Met) rs548905150 0.00017
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=) rs367876251 0.00017
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_181882.3(PRX):c.1578G>A (p.Ser526=) rs567690884 0.00016
NM_181882.3(PRX):c.641C>G (p.Pro214Arg) rs368874138 0.00016
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_181882.3(PRX):c.3588A>G (p.Gly1196=) rs372745419 0.00015
NM_181882.3(PRX):c.1026A>C (p.Ala342=) rs150772010 0.00014
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys) rs147441856 0.00014
NM_181882.3(PRX):c.1387G>T (p.Val463Phe) rs764004836 0.00013
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val) rs201618230 0.00013
NM_181882.3(PRX):c.794G>T (p.Gly265Val) rs374837022 0.00013
NM_181882.3(PRX):c.2229C>T (p.Pro743=) rs144975214 0.00012
NM_181882.3(PRX):c.1129G>T (p.Val377Leu) rs754081921 0.00011
NM_181882.3(PRX):c.2047G>A (p.Val683Met) rs575075163 0.00011
NM_181882.3(PRX):c.2943G>A (p.Gly981=) rs142228732 0.00011
NM_181882.3(PRX):c.3804C>T (p.Ala1268=) rs553825184 0.00011
NM_181882.3(PRX):c.718C>T (p.Arg240Trp) rs199863083 0.00011
NM_181882.3(PRX):c.16C>G (p.Arg6Gly) rs759056060 0.00010
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys) rs761277865 0.00010
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln) rs764162630 0.00010
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln) rs763294661 0.00010
NM_181882.3(PRX):c.1091G>A (p.Arg364Gln) rs561482109 0.00009
NM_181882.3(PRX):c.2265G>A (p.Leu755=) rs370753668 0.00009
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_181882.3(PRX):c.3346G>T (p.Val1116Leu) rs148075077 0.00009
NM_181882.3(PRX):c.3673G>A (p.Val1225Met) rs140880177 0.00009
NM_181882.3(PRX):c.3891G>A (p.Glu1297=) rs775809057 0.00009
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp) rs753339248 0.00009
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys) rs768524850 0.00009
NM_181882.3(PRX):c.862G>A (p.Val288Met) rs568618329 0.00009
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys) rs142064826 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_181882.3(PRX):c.1646C>T (p.Pro549Leu) rs150582069 0.00008
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.553C>T (p.Arg185Cys) rs376863946 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_181882.3(PRX):c.762C>A (p.Pro254=) rs546448969 0.00008
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln) rs141288626 0.00007
NM_181882.3(PRX):c.2036G>A (p.Arg679Gln) rs145856805 0.00007
NM_181882.3(PRX):c.27+8C>A rs769214562 0.00007
NM_181882.3(PRX):c.3037G>A (p.Asp1013Asn) rs548086012 0.00007
NM_181882.3(PRX):c.3385T>C (p.Ser1129Pro) rs139125398 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_181882.3(PRX):c.*45C>T rs200778472 0.00006
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp) rs143400291 0.00006
NM_181882.3(PRX):c.1402G>A (p.Val468Met) rs763489447 0.00006
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp) rs367946424 0.00006
NM_181882.3(PRX):c.1500A>G (p.Ser500=) rs777104457 0.00006
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00006
NM_181882.3(PRX):c.1979C>T (p.Pro660Leu) rs748737580 0.00006
NM_181882.3(PRX):c.2056C>A (p.Pro686Thr) rs374232032 0.00006
NM_181882.3(PRX):c.2082C>G (p.Pro694=) rs1256959994 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.21T>C (p.Ser7=) rs553845309 0.00006
NM_181882.3(PRX):c.2296G>A (p.Val766Met) rs763619423 0.00006
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg) rs542711361 0.00006
NM_181882.3(PRX):c.3832G>A (p.Asp1278Asn) rs377639106 0.00006
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg) rs769014032 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.4317C>T (p.Ser1439=) rs372280596 0.00006
NM_181882.3(PRX):c.468C>T (p.Val156=) rs543875999 0.00006
NM_181882.3(PRX):c.597C>T (p.Ala199=) rs144157275 0.00006
NM_181882.3(PRX):c.727G>A (p.Gly243Arg) rs774726424 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.992C>T (p.Pro331Leu) rs566629777 0.00006
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_181882.3(PRX):c.1837G>A (p.Val613Met) rs773222045 0.00005
NM_181882.3(PRX):c.2164A>G (p.Met722Val) rs376309142 0.00005
NM_181882.3(PRX):c.2340G>A (p.Pro780=) rs147618050 0.00005
NM_181882.3(PRX):c.2373G>C (p.Gln791His) rs764404206 0.00005
NM_181882.3(PRX):c.237C>T (p.Asp79=) rs376174896 0.00005
NM_181882.3(PRX):c.2468C>T (p.Ala823Val) rs780212559 0.00005
NM_181882.3(PRX):c.296C>G (p.Thr99Ser) rs561203828 0.00005
NM_181882.3(PRX):c.3238C>T (p.Arg1080Cys) rs200045096 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3288C>A (p.Ile1096=) rs375122789 0.00005
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val) rs201233076 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys) rs533966999 0.00005
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu) rs771234852 0.00005
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val) rs373051724 0.00005
NM_181882.3(PRX):c.642C>A (p.Pro214=) rs551628239 0.00005
NM_181882.3(PRX):c.683G>A (p.Arg228His) rs562108874 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_181882.3(PRX):c.870C>A (p.Ile290=) rs758097995 0.00005
NM_181882.3(PRX):c.1103G>A (p.Arg368Gln) rs758888846 0.00004
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.1282G>A (p.Gly428Arg) rs151110565 0.00004
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln) rs553211374 0.00004
NM_181882.3(PRX):c.1645C>T (p.Pro549Ser) rs1397900999 0.00004
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys) rs750625856 0.00004
NM_181882.3(PRX):c.2100C>T (p.Ala700=) rs757528702 0.00004
NM_181882.3(PRX):c.2243C>T (p.Pro748Leu) rs111252437 0.00004
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp) rs372473354 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.2677G>A (p.Glu893Lys) rs201270794 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166 0.00004
NM_181882.3(PRX):c.2730C>T (p.Ala910=) rs878855283 0.00004
NM_181882.3(PRX):c.2731G>A (p.Val911Met) rs377457671 0.00004
NM_181882.3(PRX):c.286C>T (p.Leu96=) rs149325913 0.00004
NM_181882.3(PRX):c.3237T>C (p.Asp1079=) rs774823527 0.00004
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile) rs143654708 0.00004
NM_181882.3(PRX):c.3768G>T (p.Val1256=) rs367862999 0.00004
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys) rs751742049 0.00004
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu) rs753530396 0.00004
NM_181882.3(PRX):c.3852C>T (p.Ser1284=) rs567324732 0.00004
NM_181882.3(PRX):c.3906C>A (p.His1302Gln) rs756103463 0.00004
NM_181882.3(PRX):c.4130G>A (p.Arg1377His) rs200835105 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu) rs369949312 0.00004
NM_181882.3(PRX):c.4377G>A (p.Ala1459=) rs377062046 0.00004
NM_181882.3(PRX):c.466G>A (p.Val156Ile) rs562267802 0.00004
NM_181882.3(PRX):c.624C>T (p.Ala208=) rs777019611 0.00004
NM_181882.3(PRX):c.625G>A (p.Ala209Thr) rs769143653 0.00004
NM_181882.3(PRX):c.747C>T (p.Pro249=) rs3814289 0.00004
NM_181882.3(PRX):c.934C>T (p.Leu312=) rs369792380 0.00004
NM_181882.3(PRX):c.943C>T (p.Arg315Trp) rs763185527 0.00004
NM_181882.3(PRX):c.*152A>G rs886054435 0.00003
NM_181882.3(PRX):c.*168C>A rs1020596240 0.00003
NM_181882.3(PRX):c.1144C>G (p.Pro382Ala) rs759440986 0.00003
NM_181882.3(PRX):c.1211G>A (p.Arg404Gln) rs146948818 0.00003
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser) rs752941494 0.00003
NM_181882.3(PRX):c.1460C>T (p.Pro487Leu) rs778936443 0.00003
NM_181882.3(PRX):c.1461G>A (p.Pro487=) rs757009052 0.00003
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861 0.00003
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp) rs759029769 0.00003
NM_181882.3(PRX):c.1827C>T (p.Pro609=) rs751816156 0.00003
NM_181882.3(PRX):c.1965G>A (p.Pro655=) rs186171971 0.00003
NM_181882.3(PRX):c.2244G>A (p.Pro748=) rs534322807 0.00003
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu) rs530370432 0.00003
NM_181882.3(PRX):c.2285A>G (p.Lys762Arg) rs202165534 0.00003
NM_181882.3(PRX):c.2286G>A (p.Lys762=) rs373111657 0.00003
NM_181882.3(PRX):c.2295C>T (p.Asp765=) rs377360814 0.00003
NM_181882.3(PRX):c.2425C>T (p.Leu809=) rs145272609 0.00003
NM_181882.3(PRX):c.2536C>T (p.His846Tyr) rs765595266 0.00003
NM_181882.3(PRX):c.2573A>G (p.Glu858Gly) rs1017754371 0.00003
NM_181882.3(PRX):c.2649G>A (p.Glu883=) rs747871484 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn) rs758614032 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.2850G>C (p.Gly950=) rs770520776 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.2933A>G (p.Lys978Arg) rs767386430 0.00003
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro) rs766119564 0.00003
NM_181882.3(PRX):c.3508G>A (p.Ala1170Thr) rs759410504 0.00003
NM_181882.3(PRX):c.3587G>C (p.Gly1196Ala) rs199640290 0.00003
NM_181882.3(PRX):c.3707C>T (p.Ala1236Val) rs142501082 0.00003
NM_181882.3(PRX):c.3853G>A (p.Gly1285Arg) rs374370759 0.00003
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp) rs752531823 0.00003
NM_181882.3(PRX):c.3939G>A (p.Leu1313=) rs140109585 0.00003
NM_181882.3(PRX):c.4121T>G (p.Val1374Gly) rs773512610 0.00003
NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln) rs762053224 0.00003
NM_181882.3(PRX):c.4152G>A (p.Ala1384=) rs756887163 0.00003
NM_181882.3(PRX):c.4157C>A (p.Pro1386His) rs372582520 0.00003
NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg) rs754032938 0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met) rs138437458 0.00003
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile) rs746338096 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_181882.3(PRX):c.559C>T (p.Arg187Cys) rs768929130 0.00003
NM_181882.3(PRX):c.589G>T (p.Glu197Ter) rs753857146 0.00003
NM_181882.3(PRX):c.639C>G (p.Pro213=) rs1479088366 0.00003
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_181882.3(PRX):c.750G>A (p.Gln250=) rs1184005539 0.00003
NM_181882.3(PRX):c.793G>A (p.Gly265Ser) rs1298913150 0.00003
NM_181882.3(PRX):c.840G>A (p.Pro280=) rs773272074 0.00003
NM_181882.3(PRX):c.847G>A (p.Val283Met) rs535087433 0.00003
NM_181882.3(PRX):c.899T>C (p.Leu300Ser) rs748380935 0.00003
NM_181882.3(PRX):c.1008C>T (p.Asp336=) rs956847298 0.00002
NM_181882.3(PRX):c.1080T>C (p.Leu360=) rs199882125 0.00002
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs760534109 0.00002
NM_181882.3(PRX):c.1107A>C (p.Ala369=) rs1191054190 0.00002
NM_181882.3(PRX):c.1166C>G (p.Pro389Arg) rs377089486 0.00002
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00002
NM_181882.3(PRX):c.1465G>A (p.Val489Met) rs753734869 0.00002
NM_181882.3(PRX):c.1472T>C (p.Leu491Pro) rs1235376433 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.161C>T (p.Ala54Val) rs774974168 0.00002
NM_181882.3(PRX):c.16C>T (p.Arg6Trp) rs759056060 0.00002
NM_181882.3(PRX):c.185-6C>T rs747043680 0.00002
NM_181882.3(PRX):c.1906C>T (p.Leu636Phe) rs756785716 0.00002
NM_181882.3(PRX):c.1935C>T (p.Pro645=) rs763132536 0.00002
NM_181882.3(PRX):c.1950C>T (p.Pro650=) rs761824931 0.00002
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr) rs1160407003 0.00002
NM_181882.3(PRX):c.2214C>T (p.Pro738=) rs772694451 0.00002
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu) rs371887816 0.00002
NM_181882.3(PRX):c.2385G>A (p.Met795Ile) rs929097201 0.00002
NM_181882.3(PRX):c.2395T>C (p.Phe799Leu) rs372370577 0.00002
NM_181882.3(PRX):c.2496A>T (p.Val832=) rs777527307 0.00002
NM_181882.3(PRX):c.2534C>T (p.Ala845Val) rs750952608 0.00002
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter) rs756689732 0.00002
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924 0.00002
NM_181882.3(PRX):c.2807T>C (p.Phe936Ser) rs765270572 0.00002
NM_181882.3(PRX):c.2868G>A (p.Lys956=) rs1353324401 0.00002
NM_181882.3(PRX):c.2892C>G (p.Ile964Met) rs758668778 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.336G>A (p.Val112=) rs369268369 0.00002
NM_181882.3(PRX):c.3423G>A (p.Ala1141=) rs370800046 0.00002
NM_181882.3(PRX):c.3441G>A (p.Pro1147=) rs777344023 0.00002
NM_181882.3(PRX):c.3486G>A (p.Glu1162=) rs764466921 0.00002
NM_181882.3(PRX):c.3646G>A (p.Val1216Met) rs774413102 0.00002
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln) rs778017594 0.00002
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val) rs767851512 0.00002
NM_181882.3(PRX):c.3885G>A (p.Glu1295=) rs776947855 0.00002
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp) rs752593001 0.00002
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) rs559968504 0.00002
NM_181882.3(PRX):c.4057G>A (p.Glu1353Lys) rs150914430 0.00002
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp) rs766729202 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.4200G>A (p.Lys1400=) rs760540823 0.00002
NM_181882.3(PRX):c.4206C>T (p.Pro1402=) rs771992595 0.00002
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp) rs1347473458 0.00002
NM_181882.3(PRX):c.457C>T (p.Pro153Ser) rs760295364 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_181882.3(PRX):c.634C>A (p.Pro212Thr) rs771156102 0.00002
NM_181882.3(PRX):c.668T>C (p.Val223Ala) rs1054277008 0.00002
NM_181882.3(PRX):c.826G>A (p.Gly276Arg) rs768077877 0.00002
NM_181882.3(PRX):c.833C>T (p.Pro278Leu) rs886054440 0.00002
NM_181882.3(PRX):c.902C>A (p.Pro301His) rs1186753867 0.00002
NM_181882.3(PRX):c.-198-14C>T rs886054442 0.00001
NM_181882.3(PRX):c.1006G>T (p.Asp336Tyr) rs1299537537 0.00001
NM_181882.3(PRX):c.1011G>C (p.Leu337=) rs1156439031 0.00001
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu) rs780373582 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942 0.00001
NM_181882.3(PRX):c.1119T>C (p.Ala373=) rs779189309 0.00001
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs752783967 0.00001
NM_181882.3(PRX):c.1184C>T (p.Thr395Ile) rs1273087776 0.00001
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs746394555 0.00001
NM_181882.3(PRX):c.1215C>T (p.Pro405=) rs377184301 0.00001
NM_181882.3(PRX):c.1245G>C (p.Leu415=) rs2079447078 0.00001
NM_181882.3(PRX):c.1251G>T (p.Leu417=) rs751470543 0.00001
NM_181882.3(PRX):c.1255A>T (p.Thr419Ser) rs766358380 0.00001
NM_181882.3(PRX):c.1269C>G (p.Pro423=) rs201031197 0.00001
NM_181882.3(PRX):c.1286T>C (p.Val429Ala) rs776312092 0.00001
NM_181882.3(PRX):c.1300G>C (p.Val434Leu) rs746471273 0.00001
NM_181882.3(PRX):c.1308G>A (p.Val436=) rs771496284 0.00001
NM_181882.3(PRX):c.1315G>A (p.Gly439Arg) rs756439826 0.00001
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs201044009 0.00001
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter) rs574861276 0.00001
NM_181882.3(PRX):c.13A>G (p.Ser5Gly) rs767350599 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1529T>C (p.Met510Thr) rs780375180 0.00001
NM_181882.3(PRX):c.1538C>T (p.Pro513Leu) rs148742209 0.00001
NM_181882.3(PRX):c.15C>G (p.Ser5Arg) rs1408677034 0.00001
NM_181882.3(PRX):c.1616C>T (p.Pro539Leu) rs762424034 0.00001
NM_181882.3(PRX):c.1647G>C (p.Pro549=) rs202113722 0.00001
NM_181882.3(PRX):c.1656A>G (p.Ser552=) rs1568707640 0.00001
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs1234205162 0.00001
NM_181882.3(PRX):c.1749T>G (p.Pro583=) rs1234792110 0.00001
NM_181882.3(PRX):c.1777A>G (p.Met593Val) rs1389523539 0.00001
NM_181882.3(PRX):c.1790A>G (p.Glu597Gly) rs746698242 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.17G>A (p.Arg6Gln) rs774078598 0.00001
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs779928693 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.184+10C>G rs1283752580 0.00001
NM_181882.3(PRX):c.1842C>A (p.Pro614=) rs559655526 0.00001
NM_181882.3(PRX):c.185-4G>A rs1322328826 0.00001
NM_181882.3(PRX):c.185-8G>A rs768814221 0.00001
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg) rs781739632 0.00001
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu) rs751935470 0.00001
NM_181882.3(PRX):c.1971G>A (p.Val657=) rs766837777 0.00001
NM_181882.3(PRX):c.1993A>G (p.Met665Val) rs747528144 0.00001
NM_181882.3(PRX):c.2018T>C (p.Met673Thr) rs760571664 0.00001
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter) rs1469912467 0.00001
NM_181882.3(PRX):c.2040C>T (p.Leu680=) rs140717633 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2188C>T (p.Pro730Ser) rs2079433440 0.00001
NM_181882.3(PRX):c.2209G>A (p.Val737Met) rs1237761863 0.00001
NM_181882.3(PRX):c.2221C>T (p.His741Tyr) rs1599653314 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu) rs749585237 0.00001
NM_181882.3(PRX):c.2268G>A (p.Pro756=) rs570227186 0.00001
NM_181882.3(PRX):c.2274G>T (p.Met758Ile) rs770109023 0.00001
NM_181882.3(PRX):c.2280G>T (p.Val760=) rs781372987 0.00001
NM_181882.3(PRX):c.2283G>A (p.Pro761=) rs1340076007 0.00001
NM_181882.3(PRX):c.2307G>A (p.Pro769=) rs148655811 0.00001
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr) rs369505684 0.00001
NM_181882.3(PRX):c.2339C>T (p.Pro780Leu) rs371562775 0.00001
NM_181882.3(PRX):c.2345T>G (p.Val782Gly) rs747153697 0.00001
NM_181882.3(PRX):c.2353A>G (p.Lys785Glu) rs780270731 0.00001
NM_181882.3(PRX):c.2421C>T (p.Pro807=) rs752259641 0.00001
NM_181882.3(PRX):c.2432G>T (p.Arg811Met) rs2079430119 0.00001
NM_181882.3(PRX):c.2505C>T (p.Pro835=) rs1385769822 0.00001
NM_181882.3(PRX):c.2523G>A (p.Val841=) rs780710089 0.00001
NM_181882.3(PRX):c.2558C>T (p.Thr853Ile) rs2079428604 0.00001
NM_181882.3(PRX):c.256T>C (p.Cys86Arg) rs765676916 0.00001
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro) rs1192034174 0.00001
NM_181882.3(PRX):c.2591C>G (p.Ala864Gly) rs777582529 0.00001
NM_181882.3(PRX):c.25G>A (p.Glu9Lys) rs1020492565 0.00001
NM_181882.3(PRX):c.2619C>T (p.Ala873=) rs761066015 0.00001
NM_181882.3(PRX):c.2642G>A (p.Arg881Gln) rs570264094 0.00001
NM_181882.3(PRX):c.2657A>T (p.Glu886Val) rs1212378012 0.00001
NM_181882.3(PRX):c.2697C>A (p.Pro899=) rs778762350 0.00001
NM_181882.3(PRX):c.27+5G>C rs371520525 0.00001
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr) rs1179595016 0.00001
NM_181882.3(PRX):c.2841G>A (p.Glu947=) rs771912595 0.00001
NM_181882.3(PRX):c.2851G>T (p.Ala951Ser) rs748622767 0.00001
NM_181882.3(PRX):c.2860G>T (p.Ala954Ser) rs747471167 0.00001
NM_181882.3(PRX):c.2967C>T (p.Leu989=) rs1057522657 0.00001
NM_181882.3(PRX):c.2T>C (p.Met1Thr) rs1352237419 0.00001
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751 0.00001
NM_181882.3(PRX):c.3050A>G (p.Lys1017Arg) rs538922683 0.00001
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg) rs772827175 0.00001
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs761267361 0.00001
NM_181882.3(PRX):c.307G>A (p.Gly103Arg) rs754510516 0.00001
NM_181882.3(PRX):c.3094G>A (p.Asp1032Asn) rs772431799 0.00001
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs) rs1474525486 0.00001
NM_181882.3(PRX):c.3109G>A (p.Glu1037Lys) rs571311308 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs773246710 0.00001
NM_181882.3(PRX):c.3252G>A (p.Gly1084=) rs1364023547 0.00001
NM_181882.3(PRX):c.3261T>C (p.Ala1087=) rs1412558420 0.00001
NM_181882.3(PRX):c.3270C>T (p.Thr1090=) rs764866078 0.00001
NM_181882.3(PRX):c.3281T>G (p.Leu1094Arg) rs1270740440 0.00001
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys) rs565167885 0.00001
NM_181882.3(PRX):c.3309G>T (p.Thr1103=) rs557336965 0.00001
NM_181882.3(PRX):c.3315C>T (p.Gly1105=) rs762102597 0.00001
NM_181882.3(PRX):c.333C>G (p.Thr111=) rs764439512 0.00001
NM_181882.3(PRX):c.3351C>T (p.Ala1117=) rs535934188 0.00001
NM_181882.3(PRX):c.335T>C (p.Val112Ala) rs760944190 0.00001
NM_181882.3(PRX):c.3366G>A (p.Gln1122=) rs952933935 0.00001
NM_181882.3(PRX):c.3375C>T (p.Gly1125=) rs755560307 0.00001
NM_181882.3(PRX):c.3376C>A (p.Leu1126Met) rs1483705612 0.00001
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp) rs750801377 0.00001
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala) rs762157790 0.00001
NM_181882.3(PRX):c.3405C>T (p.Val1135=) rs1359310179 0.00001
NM_181882.3(PRX):c.3416A>G (p.His1139Arg) rs1268527552 0.00001
NM_181882.3(PRX):c.3419A>T (p.Asp1140Val) rs923473427 0.00001
NM_181882.3(PRX):c.345C>T (p.Tyr115=) rs774364484 0.00001
NM_181882.3(PRX):c.346G>A (p.Glu116Lys) rs770713710 0.00001
NM_181882.3(PRX):c.3483G>A (p.Gly1161=) rs1344913169 0.00001
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter) rs767591489 0.00001
NM_181882.3(PRX):c.354G>A (p.Lys118=) rs1044654884 0.00001
NM_181882.3(PRX):c.3562C>A (p.Pro1188Thr) rs878855284 0.00001
NM_181882.3(PRX):c.3583C>T (p.Pro1195Ser) rs1555800544 0.00001
NM_181882.3(PRX):c.358C>A (p.Pro120Thr) rs762808329 0.00001
NM_181882.3(PRX):c.360G>T (p.Pro120=) rs142003722 0.00001
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys) rs767504243 0.00001
NM_181882.3(PRX):c.3624G>C (p.Glu1208Asp) rs1030878933 0.00001
NM_181882.3(PRX):c.3630C>G (p.Val1210=) rs1305658668 0.00001
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser) rs1303392170 0.00001
NM_181882.3(PRX):c.3674T>C (p.Val1225Ala) rs1329396084 0.00001
NM_181882.3(PRX):c.3703G>A (p.Glu1235Lys) rs1385904344 0.00001
NM_181882.3(PRX):c.3717C>T (p.Gly1239=) rs764955913 0.00001
NM_181882.3(PRX):c.3722G>C (p.Gly1241Ala) rs139120811 0.00001
NM_181882.3(PRX):c.3726G>T (p.Gly1242=) rs775170011 0.00001
NM_181882.3(PRX):c.3756C>T (p.Ala1252=) rs567256423 0.00001
NM_181882.3(PRX):c.3805G>A (p.Glu1269Lys) rs916285011 0.00001
NM_181882.3(PRX):c.381+22C>A rs1316795222 0.00001
NM_181882.3(PRX):c.381+6C>T rs778983888 0.00001
NM_181882.3(PRX):c.3835G>T (p.Val1279Leu) rs747247972 0.00001
NM_181882.3(PRX):c.3841C>T (p.Leu1281Phe) rs2079410935 0.00001
NM_181882.3(PRX):c.3843C>A (p.Leu1281=) rs369372933 0.00001
NM_181882.3(PRX):c.3849A>G (p.Pro1283=) rs757247849 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.392G>A (p.Ser131Asn) rs781394276 0.00001
NM_181882.3(PRX):c.3963G>A (p.Glu1321=) rs781159482 0.00001
NM_181882.3(PRX):c.3966G>A (p.Glu1322=) rs1364542566 0.00001
NM_181882.3(PRX):c.4047C>T (p.Ser1349=) rs759882475 0.00001
NM_181882.3(PRX):c.4090G>A (p.Gly1364Arg) rs1481896317 0.00001
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu) rs768636520 0.00001
NM_181882.3(PRX):c.4109G>A (p.Arg1370His) rs756687548 0.00001
NM_181882.3(PRX):c.4115G>T (p.Gly1372Val) rs751906783 0.00001
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr) rs752060706 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu) rs1005254872 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.485A>C (p.Lys162Thr) rs879254072 0.00001
NM_181882.3(PRX):c.486G>A (p.Lys162=) rs2079457857 0.00001
NM_181882.3(PRX):c.494G>A (p.Arg165His) rs780278195 0.00001
NM_181882.3(PRX):c.503G>A (p.Arg168Gln) rs763833871 0.00001
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs539484549 0.00001
NM_181882.3(PRX):c.557G>A (p.Arg186Gln) rs569213133 0.00001
NM_181882.3(PRX):c.575G>A (p.Arg192Gln) rs944160754 0.00001
NM_181882.3(PRX):c.598G>A (p.Glu200Lys) rs767207935 0.00001
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs765911262 0.00001
NM_181882.3(PRX):c.627C>T (p.Ala209=) rs761085934 0.00001
NM_181882.3(PRX):c.628G>A (p.Ala210Thr) rs775981300 0.00001
NM_181882.3(PRX):c.648A>G (p.Lys216=) rs1199712298 0.00001
NM_181882.3(PRX):c.669G>T (p.Val223=) rs1433628210 0.00001
NM_181882.3(PRX):c.673G>T (p.Ala225Ser) rs754734195 0.00001
NM_181882.3(PRX):c.707T>C (p.Leu236Pro) rs876661240 0.00001
NM_181882.3(PRX):c.732G>A (p.Ala244=) rs769735682 0.00001
NM_181882.3(PRX):c.815C>T (p.Thr272Ile) rs747384252 0.00001
NM_181882.3(PRX):c.820G>C (p.Gly274Arg) rs750022799 0.00001
NM_181882.3(PRX):c.825C>T (p.Leu275=) rs753268672 0.00001
NM_181882.3(PRX):c.830C>T (p.Ala277Val) rs1393962979 0.00001
NM_181882.3(PRX):c.834G>A (p.Pro278=) rs759984063 0.00001
NM_181882.3(PRX):c.901C>T (p.Pro301Ser) rs1453242996 0.00001
NM_181882.3(PRX):c.936A>G (p.Leu312=) rs752086513 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_181882.3(PRX):c.959C>T (p.Ser320Leu) rs760647416 0.00001
NM_181882.3(PRX):c.994A>G (p.Thr332Ala) rs143710873 0.00001
NC_000019.10:g.(?_40403696)_(40403872_?)del
NC_000019.9:g.(?_40899873)_(40904743_?)dup
NM_181882.3(PRX):c.-199+7G>C rs541213273
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
NM_181882.3(PRX):c.1002G>T (p.Gly334=) rs755650027
NM_181882.3(PRX):c.1012del (p.Ala338fs) rs1555801290
NM_181882.3(PRX):c.1013C>T (p.Ala338Val) rs1368840723
NM_181882.3(PRX):c.1021G>T (p.Gly341Cys) rs750822167
NM_181882.3(PRX):c.1061C>T (p.Ala354Val) rs2145731516
NM_181882.3(PRX):c.1077C>G (p.Arg359=) rs1357784205
NM_181882.3(PRX):c.1087C>G (p.Pro363Ala) rs886054439
NM_181882.3(PRX):c.1097G>A (p.Gly366Glu)
NM_181882.3(PRX):c.1125C>T (p.Ala375=) rs2145731404
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
NM_181882.3(PRX):c.1141A>C (p.Ser381Arg) rs1049349860
NM_181882.3(PRX):c.1155G>A (p.Arg385=)
NM_181882.3(PRX):c.1160A>G (p.Lys387Arg) rs1438526620
NM_181882.3(PRX):c.1167C>T (p.Pro389=) rs1417251724
NM_181882.3(PRX):c.1169G>A (p.Arg390Lys) rs2079447897
NM_181882.3(PRX):c.1171del (p.Leu391fs) rs2145731305
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.1177A>G (p.Met393Val) rs2145731286
NM_181882.3(PRX):c.1183A>T (p.Thr395Ser)
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs) rs1599655206
NM_181882.3(PRX):c.11G>A (p.Arg4Lys)
NM_181882.3(PRX):c.1228G>A (p.Val410Ile)
NM_181882.3(PRX):c.1242G>A (p.Lys414=)
NM_181882.3(PRX):c.1275T>G (p.Leu425=) rs2145731118
NM_181882.3(PRX):c.1283G>C (p.Gly428Ala)
NM_181882.3(PRX):c.1324G>A (p.Val442Met)
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr) rs2079445823
NM_181882.3(PRX):c.1344T>C (p.Pro448=)
NM_181882.3(PRX):c.1345G>A (p.Glu449Lys) rs2145730978
NM_181882.3(PRX):c.1368C>T (p.Pro456=)
NM_181882.3(PRX):c.1369G>C (p.Glu457Gln) rs142064826
NM_181882.3(PRX):c.1373C>T (p.Ala458Val)
NM_181882.3(PRX):c.1400A>G (p.Glu467Gly) rs2079445212
NM_181882.3(PRX):c.1401G>A (p.Glu467=) rs572962587
NM_181882.3(PRX):c.1404G>A (p.Val468=)
NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
NM_181882.3(PRX):c.1410C>G (p.Leu470=)
NM_181882.3(PRX):c.1416G>A (p.Lys472=)
NM_181882.3(PRX):c.1450A>G (p.Met484Val) rs1462275457
NM_181882.3(PRX):c.1466T>A (p.Val489Glu) rs1484709871
NM_181882.3(PRX):c.1467G>T (p.Val489=)
NM_181882.3(PRX):c.1473T>C (p.Leu491=)
NM_181882.3(PRX):c.1482A>G (p.Val494=)
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3]) rs1555801137
NM_181882.3(PRX):c.1490C>A (p.Pro497His) rs1167411868
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs2079443969
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.1495G>T (p.Val499Leu)
NM_181882.3(PRX):c.1497G>A (p.Val499=) rs2145730703
NM_181882.3(PRX):c.1500_1577del (p.Leu523_Leu548del) rs2079442701
NM_181882.3(PRX):c.1515A>G (p.Pro505=) rs1234698192
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln) rs1035002145
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe) rs2079443162
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs) rs2079443119
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
NM_181882.3(PRX):c.1558G>A (p.Val520Ile) rs2079443099
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter) rs200483634
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
NM_181882.3(PRX):c.1568_1645dup (p.Leu523_Leu548dup)
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del) rs2079440442
NM_181882.3(PRX):c.1574del (p.Val525fs) rs752095452
NM_181882.3(PRX):c.1578_1601dup (p.Lys529_Met536dup) rs764208864
NM_181882.3(PRX):c.1594_1671dup (p.Lys532_Pro557dup) rs2079441294
NM_181882.3(PRX):c.1596G>A (p.Lys532=) rs751136125
NM_181882.3(PRX):c.1613T>C (p.Val538Ala) rs765791679
NM_181882.3(PRX):c.1613T>G (p.Val538Gly)
NM_181882.3(PRX):c.1617G>A (p.Pro539=)
NM_181882.3(PRX):c.1620G>A (p.Glu540=)
NM_181882.3(PRX):c.1621G>A (p.Val541Met) rs764542785
NM_181882.3(PRX):c.1627C>T (p.Leu543Phe) rs1370468682
NM_181882.3(PRX):c.1638A>G (p.Val546=) rs774541568
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del) rs2079440653
NM_181882.3(PRX):c.1639C>T (p.Gln547Ter) rs1254691308
NM_181882.3(PRX):c.1646C>G (p.Pro549Arg) rs150582069
NM_181882.3(PRX):c.1647G>A (p.Pro549=)
NM_181882.3(PRX):c.1657del (p.Glu553fs)
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs) rs2079441396
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.1664A>G (p.Lys555Arg) rs2145730296
NM_181882.3(PRX):c.1666_1743del (p.Leu556_Lys581del) rs1599654291
NM_181882.3(PRX):c.1667T>A (p.Leu556His) rs2079441335
NM_181882.3(PRX):c.1670C>T (p.Pro557Leu) rs1419440307
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs1318870390
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs1299743311
NM_181882.3(PRX):c.1680A>C (p.Ser560=) rs1194012098
NM_181882.3(PRX):c.168C>T (p.Ser56=)
NM_181882.3(PRX):c.1695A>G (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.1695A>T (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.1696G>C (p.Glu566Gln) rs2079440933
NM_181882.3(PRX):c.1708C>G (p.Pro570Ala) rs2145730168
NM_181882.3(PRX):c.1711G>A (p.Glu571Lys)
NM_181882.3(PRX):c.1716G>A (p.Val572=) rs184025564
NM_181882.3(PRX):c.1718A>G (p.Gln573Arg) rs1289149165
NM_181882.3(PRX):c.1722_1723delinsCA (p.Pro575Thr) rs2079440418
NM_181882.3(PRX):c.1724C>T (p.Pro575Leu) rs201829675
NM_181882.3(PRX):c.1725G>A (p.Pro575=) rs1043949955
NM_181882.3(PRX):c.1728A>G (p.Lys576=)
NM_181882.3(PRX):c.1746C>T (p.Val582=) rs946852986
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln) rs2079440126
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe) rs773206299
NM_181882.3(PRX):c.1767G>A (p.Lys589=)
NM_181882.3(PRX):c.1768G>A (p.Val590Met) rs1278199971
NM_181882.3(PRX):c.176T>C (p.Leu59Pro) rs748318191
NM_181882.3(PRX):c.1775A>C (p.Glu592Ala)
NM_181882.3(PRX):c.178C>A (p.Gln60Lys)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.1806A>G (p.Glu602=) rs527537921
NM_181882.3(PRX):c.1813C>T (p.Leu605Phe) rs1555801070
NM_181882.3(PRX):c.1818G>A (p.Pro606=) rs768022787
NM_181882.3(PRX):c.1836C>A (p.Ala612=) rs574899855
NM_181882.3(PRX):c.184+11C>T
NM_181882.3(PRX):c.184+13G>A
NM_181882.3(PRX):c.184+2T>A rs2079511684
NM_181882.3(PRX):c.184+2T>C rs2079511684
NM_181882.3(PRX):c.184+3G>T rs944519032
NM_181882.3(PRX):c.184+9G>C
NM_181882.3(PRX):c.1845T>C (p.Asp615=)
NM_181882.3(PRX):c.184G>A (p.Gly62Arg) rs1205438395
NM_181882.3(PRX):c.185-11C>A
NM_181882.3(PRX):c.185-13A>T
NM_181882.3(PRX):c.185-4G>T rs1322328826
NM_181882.3(PRX):c.185-5C>T
NM_181882.3(PRX):c.185-9C>T rs1555801635
NM_181882.3(PRX):c.1851C>T (p.His617=) rs2145729833
NM_181882.3(PRX):c.1857A>G (p.Pro619=) rs779898963
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly) rs1395113048
NM_181882.3(PRX):c.1860_2123dup (p.Val714_Cys715insProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysVal)
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg) rs2079438528
NM_181882.3(PRX):c.1869T>G (p.Leu623=) rs1241434904
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del) rs2079436631
NM_181882.3(PRX):c.1887G>T (p.Met629Ile)
NM_181882.3(PRX):c.1891C>G (p.Leu631Val) rs886054438
NM_181882.3(PRX):c.1898A>T (p.Glu633Val) rs1599654002
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1]) rs575492732
NM_181882.3(PRX):c.1912G>A (p.Glu638Lys) rs2145729705
NM_181882.3(PRX):c.191A>G (p.Gln64Arg)
NM_181882.3(PRX):c.1938G>A (p.Glu646=)
NM_181882.3(PRX):c.1942G>T (p.Ala648Ser) rs950524654
NM_181882.3(PRX):c.1947G>A (p.Val649=) rs2145729571
NM_181882.3(PRX):c.1950C>G (p.Pro650=)
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.1953T>C (p.Asp651=)
NM_181882.3(PRX):c.1955T>C (p.Val652Ala) rs963617308
NM_181882.3(PRX):c.1956G>A (p.Val652=)
NM_181882.3(PRX):c.1959C>A (p.His653Gln) rs760652185
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg) rs748737580
NM_181882.3(PRX):c.1980G>A (p.Pro660=) rs777413169
NM_181882.3(PRX):c.1980G>T (p.Pro660=) rs777413169
NM_181882.3(PRX):c.1986C>T (p.Val662=) rs1279008110
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly) rs758728503
NM_181882.3(PRX):c.1999C>G (p.Leu667Val) rs1599653741
NM_181882.3(PRX):c.1999del (p.Leu667fs)
NM_181882.3(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_181882.3(PRX):c.2028_2213dup (p.Glu677_Pro738dup) rs2145728948
NM_181882.3(PRX):c.2032G>T (p.Val678Phe)
NM_181882.3(PRX):c.2033T>C (p.Val678Ala) rs1568706919
NM_181882.3(PRX):c.2037A>T (p.Arg679=) rs2145729366
NM_181882.3(PRX):c.2044G>T (p.Glu682Ter) rs761277865
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter) rs1252279085
NM_181882.3(PRX):c.205C>T (p.Arg69Ter) rs2079467367
NM_181882.3(PRX):c.2067A>G (p.Ser689=)
NM_181882.3(PRX):c.2071A>C (p.Met691Leu) rs886054437
NM_181882.3(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.3(PRX):c.2088G>A (p.Val696=) rs1053269682
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.2106C>G (p.Pro702=) rs183461864
NM_181882.3(PRX):c.2107G>C (p.Asp703His) rs756173103
NM_181882.3(PRX):c.2113C>T (p.His705Tyr) rs2079434434
NM_181882.3(PRX):c.2115C>G (p.His705Gln)
NM_181882.3(PRX):c.2120C>G (p.Pro707Arg)
NM_181882.3(PRX):c.2127G>A (p.Val709=)
NM_181882.3(PRX):c.2134C>T (p.Pro712Ser) rs1463490551
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu) rs2079433906
NM_181882.3(PRX):c.2158C>T (p.Pro720Ser) rs1599653417
NM_181882.3(PRX):c.2176G>A (p.Glu726Lys)
NM_181882.3(PRX):c.2178G>A (p.Glu726=) rs761322510
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
NM_181882.3(PRX):c.2184A>G (p.Lys728=) rs2145729003
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe) rs2079433471
NM_181882.3(PRX):c.2190C>T (p.Pro730=) rs1336238948
NM_181882.3(PRX):c.2202G>A (p.Glu734=)
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.3(PRX):c.2217T>C (p.Asp739=)
NM_181882.3(PRX):c.2227C>T (p.Pro743Ser)
NM_181882.3(PRX):c.2229C>G (p.Pro743=)
NM_181882.3(PRX):c.222C>T (p.Asn74=)
NM_181882.3(PRX):c.2241G>A (p.Leu747=)
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg) rs111252437
NM_181882.3(PRX):c.2245A>G (p.Lys749Glu) rs755014286
NM_181882.3(PRX):c.2247A>G (p.Lys749=)
NM_181882.3(PRX):c.225C>T (p.Phe75=)
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln) rs760071236
NM_181882.3(PRX):c.2261G>T (p.Arg754Leu)
NM_181882.3(PRX):c.227A>G (p.Lys76Arg)
NM_181882.3(PRX):c.2281C>T (p.Pro761Ser) rs1430642282
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg) rs530370432
NM_181882.3(PRX):c.2289del (p.Asp765fs) rs797045102
NM_181882.3(PRX):c.2292C>G (p.Pro764=) rs142637195
NM_181882.3(PRX):c.2292C>T (p.Pro764=) rs142637195
NM_181882.3(PRX):c.2293G>A (p.Asp765Asn) rs541455813
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs1599653064
NM_181882.3(PRX):c.2301del (p.Leu768fs)
NM_181882.3(PRX):c.2305C>T (p.Pro769Ser)
NM_181882.3(PRX):c.2311G>C (p.Ala771Pro) rs1568706134
NM_181882.3(PRX):c.2312C>T (p.Ala771Val)
NM_181882.3(PRX):c.2317G>C (p.Glu773Gln)
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.231C>T (p.Tyr77=) rs752192677
NM_181882.3(PRX):c.2330C>G (p.Pro777Arg) rs2079431092
NM_181882.3(PRX):c.2331C>T (p.Pro777=)
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly) rs2079431069
NM_181882.3(PRX):c.2355G>A (p.Lys785=) rs2145728615
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
NM_181882.3(PRX):c.236A>T (p.Asp79Val) rs2079466924
NM_181882.3(PRX):c.2372_2392del (p.Gln791_Gly798delinsArg)
NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)
NM_181882.3(PRX):c.238G>T (p.Ala80Ser)
NM_181882.3(PRX):c.2399A>G (p.Lys800Arg) rs2145728557
NM_181882.3(PRX):c.2400G>A (p.Lys800=) rs2079430394
NM_181882.3(PRX):c.2419C>T (p.Pro807Ser)
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.2424G>A (p.Lys808=) rs2079430194
NM_181882.3(PRX):c.2440T>C (p.Ser814Pro) rs201809431
NM_181882.3(PRX):c.2447C>T (p.Ser816Leu) rs556698543
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg) rs2079429870
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061
NM_181882.3(PRX):c.2485G>C (p.Gly829Arg)
NM_181882.3(PRX):c.248T>G (p.Leu83Arg) rs1599657876
NM_181882.3(PRX):c.24C>T (p.Ala8=)
NM_181882.3(PRX):c.2509C>G (p.Leu837Val)
NM_181882.3(PRX):c.2509C>T (p.Leu837=) rs1177784082
NM_181882.3(PRX):c.2553_2556del (p.Thr853fs) rs1599652748
NM_181882.3(PRX):c.2581del (p.Leu861fs) rs2145728259
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg) rs1192034174
NM_181882.3(PRX):c.2599C>A (p.Leu867Met) rs2079428174
NM_181882.3(PRX):c.2605G>A (p.Gly869Arg) rs1555800819
NM_181882.3(PRX):c.2611G>C (p.Val871Leu) rs754359052
NM_181882.3(PRX):c.2612T>C (p.Val871Ala) rs201389706
NM_181882.3(PRX):c.2628G>A (p.Met876Ile) rs1307077953
NM_181882.3(PRX):c.2630G>T (p.Gly877Val)
NM_181882.3(PRX):c.2637A>G (p.Gly879=)
NM_181882.3(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.3(PRX):c.2641C>T (p.Arg881Trp) rs375201649
NM_181882.3(PRX):c.2645_2646inv (p.Val882Ala)
NM_181882.3(PRX):c.2651G>A (p.Gly884Asp) rs139005780
NM_181882.3(PRX):c.2652C>T (p.Gly884=) rs768242642
NM_181882.3(PRX):c.2666C>A (p.Ala889Glu) rs2145728054
NM_181882.3(PRX):c.2672T>G (p.Val891Gly)
NM_181882.3(PRX):c.2697C>T (p.Pro899=) rs778762350
NM_181882.3(PRX):c.27+12C>A
NM_181882.3(PRX):c.27+12C>T rs376353333
NM_181882.3(PRX):c.27+15G>A
NM_181882.3(PRX):c.27+19T>C rs534546929
NM_181882.3(PRX):c.27+1G>T rs146342432
NM_181882.3(PRX):c.2700T>C (p.Ser900=)
NM_181882.3(PRX):c.2719C>T (p.Gln907Ter) rs2079426412
NM_181882.3(PRX):c.2724G>T (p.Leu908=) rs2079426389
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro) rs145203783
NM_181882.3(PRX):c.2744A>T (p.Glu915Val) rs899773763
NM_181882.3(PRX):c.2746G>C (p.Gly916Arg) rs775152960
NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
NM_181882.3(PRX):c.2784T>C (p.Ser928=) rs766519481
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2793C>T (p.Phe931=) rs750559680
NM_181882.3(PRX):c.2801C>T (p.Pro934Leu)
NM_181882.3(PRX):c.2810G>T (p.Gly937Val)
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs) rs2145727806
NM_181882.3(PRX):c.2816C>G (p.Ser939Trp) rs761769929
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.2827G>A (p.Val943Met) rs1255146621
NM_181882.3(PRX):c.2843C>G (p.Ala948Gly) rs2079424981
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.3(PRX):c.2854G>C (p.Gly952Arg) rs1060502972
NM_181882.3(PRX):c.2876T>C (p.Val959Ala) rs1568704784
NM_181882.3(PRX):c.2888C>T (p.Ala963Val) rs1187783058
NM_181882.3(PRX):c.2898C>T (p.Leu966=)
NM_181882.3(PRX):c.2905G>C (p.Ala969Pro)
NM_181882.3(PRX):c.2910G>A (p.Arg970=)
NM_181882.3(PRX):c.2913G>A (p.Val971=) rs1599652077
NM_181882.3(PRX):c.2913G>T (p.Val971=) rs1599652077
NM_181882.3(PRX):c.2916G>T (p.Gly972=) rs1555800751
NM_181882.3(PRX):c.2921_2941del (p.Glu974_Ala980del) rs748965299
NM_181882.3(PRX):c.2928G>A (p.Glu976=)
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp) rs2079423739
NM_181882.3(PRX):c.2942G>A (p.Gly981Glu) rs1568704659
NM_181882.3(PRX):c.2942G>T (p.Gly981Val) rs1568704659
NM_181882.3(PRX):c.2960C>T (p.Pro987Leu)
NM_181882.3(PRX):c.296C>T (p.Thr99Ile) rs561203828
NM_181882.3(PRX):c.2977A>T (p.Ile993Phe) rs1234629496
NM_181882.3(PRX):c.2986C>T (p.Leu996Phe)
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs) rs1231723888
NM_181882.3(PRX):c.2995G>C (p.Asp999His)
NM_181882.3(PRX):c.300G>A (p.Val100=) rs747794739
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3028G>A (p.Ala1010Thr) rs2079422267
NM_181882.3(PRX):c.302C>T (p.Pro101Leu) rs1202652443
NM_181882.3(PRX):c.3036C>T (p.Ala1012=)
NM_181882.3(PRX):c.3050A>C (p.Lys1017Thr) rs538922683
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
NM_181882.3(PRX):c.3057C>G (p.Pro1019=) rs1330286599
NM_181882.3(PRX):c.3060G>A (p.Arg1020=) rs761267361
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) rs1599651726
NM_181882.3(PRX):c.3090C>T (p.Gly1030=) rs2145727261
NM_181882.3(PRX):c.3098del (p.Thr1033fs) rs2145727241
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3102G>A (p.Glu1034=) rs774688060
NM_181882.3(PRX):c.3112C>T (p.Leu1038=)
NM_181882.3(PRX):c.311A>T (p.Asp104Val)
NM_181882.3(PRX):c.3120A>C (p.Pro1040=)
NM_181882.3(PRX):c.3130G>A (p.Glu1044Lys)
NM_181882.3(PRX):c.3133T>C (p.Leu1045=)
NM_181882.3(PRX):c.3142_3147del (p.Lys1048_Gly1049del) rs764547883
NM_181882.3(PRX):c.3154T>C (p.Trp1052Arg)
NM_181882.3(PRX):c.3177C>G (p.Pro1059=) rs2145727107
NM_181882.3(PRX):c.317C>T (p.Ala106Val) rs2145734161
NM_181882.3(PRX):c.3190C>G (p.Pro1064Ala) rs937051533
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3195C>T (p.Ser1065=) rs2079420208
NM_181882.3(PRX):c.320T>G (p.Leu107Arg)
NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr) rs886054436
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp) rs2079419662
NM_181882.3(PRX):c.3249G>A (p.Pro1083=)
NM_181882.3(PRX):c.3254A>G (p.Glu1085Gly)
NM_181882.3(PRX):c.3257A>G (p.Lys1086Arg)
NM_181882.3(PRX):c.3258G>T (p.Lys1086Asn)
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly) rs758071572
NM_181882.3(PRX):c.3264G>A (p.Glu1088=)
NM_181882.3(PRX):c.3268A>C (p.Thr1090Pro)
NM_181882.3(PRX):c.3272C>T (p.Ala1091Val) rs2145726879
NM_181882.3(PRX):c.3275del (p.Val1092fs)
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe) rs2079418891
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3291C>T (p.Pro1097=)
NM_181882.3(PRX):c.3294G>A (p.Glu1098=) rs1599651349
NM_181882.3(PRX):c.329G>A (p.Gly110Glu) rs1309370142
NM_181882.3(PRX):c.3302T>C (p.Leu1101Pro)
NM_181882.3(PRX):c.3309G>A (p.Thr1103=) rs557336965
NM_181882.3(PRX):c.3314G>C (p.Gly1105Ala)
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs2079418168
NM_181882.3(PRX):c.3336A>G (p.Ala1112=) rs779789272
NM_181882.3(PRX):c.3341G>T (p.Gly1114Val) rs772043027
NM_181882.3(PRX):c.334G>A (p.Val112Met) rs1374240096
NM_181882.3(PRX):c.3351_3352delinsTA (p.Val1118Ile) rs2145726691
NM_181882.3(PRX):c.3352G>T (p.Val1118Phe) rs143654708
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs1359760408
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg) rs1287415463
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs2079417519
NM_181882.3(PRX):c.3387C>T (p.Ser1129=) rs2145726595
NM_181882.3(PRX):c.3389C>G (p.Thr1130Arg) rs2079417291
NM_181882.3(PRX):c.3393C>T (p.Ala1131=) rs2145726580
NM_181882.3(PRX):c.3396G>C (p.Gly1132=) rs2145726564
NM_181882.3(PRX):c.3400G>T (p.Val1134Leu) rs786204203
NM_181882.3(PRX):c.3418G>A (p.Asp1140Asn) rs1599651064
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs778707867
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
NM_181882.3(PRX):c.3447C>T (p.Gly1149=) rs1599651000
NM_181882.3(PRX):c.344A>G (p.Tyr115Cys) rs759570608
NM_181882.3(PRX):c.3453C>T (p.Ser1151=)
NM_181882.3(PRX):c.3459A>G (p.Pro1153=) rs1599650963
NM_181882.3(PRX):c.3462G>C (p.Gln1154His) rs374969898
NM_181882.3(PRX):c.3472A>C (p.Thr1158Pro)
NM_181882.3(PRX):c.3475G>C (p.Gly1159Arg)
NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu)
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile) rs2079415753
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter) rs2145726269
NM_181882.3(PRX):c.3519A>C (p.Thr1173=) rs567285703
NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del) rs765351391
NM_181882.3(PRX):c.3531A>G (p.Ala1177=) rs1465687338
NM_181882.3(PRX):c.3536G>A (p.Gly1179Asp) rs1306056577
NM_181882.3(PRX):c.3537C>T (p.Gly1179=) rs2079415063
NM_181882.3(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.3(PRX):c.3562C>T (p.Pro1188Ser) rs878855284
NM_181882.3(PRX):c.3595G>C (p.Val1199Leu) rs2145726058
NM_181882.3(PRX):c.3626G>C (p.Gly1209Ala)
NM_181882.3(PRX):c.3626dup (p.Val1210fs)
NM_181882.3(PRX):c.3637A>T (p.Met1213Leu)
NM_181882.3(PRX):c.3651A>G (p.Thr1217=) rs2145725969
NM_181882.3(PRX):c.3672C>T (p.Asp1224=)
NM_181882.3(PRX):c.3681A>G (p.Leu1227=)
NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.3(PRX):c.370G>A (p.Val124Met) rs2079464852
NM_181882.3(PRX):c.3714A>C (p.Thr1238=)
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs2079412833
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp) rs139120811
NM_181882.3(PRX):c.3729G>A (p.Leu1243=)
NM_181882.3(PRX):c.3733C>T (p.Leu1245=)
NM_181882.3(PRX):c.3737A>G (p.Lys1246Arg) rs2079412467
NM_181882.3(PRX):c.3738G>A (p.Lys1246=)
NM_181882.3(PRX):c.375C>T (p.Ala125=) rs2145733991
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) rs2079412133
NM_181882.3(PRX):c.3770G>T (p.Gly1257Val) rs1424142560
NM_181882.3(PRX):c.3772_3773delinsA (p.Gly1258fs) rs1599650427
NM_181882.3(PRX):c.3785A>G (p.Glu1262Gly) rs2145725692
NM_181882.3(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.3801G>C (p.Gly1267=)
NM_181882.3(PRX):c.3802G>A (p.Ala1268Thr) rs146061247
NM_181882.3(PRX):c.381+15C>T
NM_181882.3(PRX):c.381+16C>G
NM_181882.3(PRX):c.3810T>C (p.Arg1270=)
NM_181882.3(PRX):c.382-17C>T rs889158287
NM_181882.3(PRX):c.382-19C>T
NM_181882.3(PRX):c.382-20C>T
NM_181882.3(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.3831C>T (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.3834C>T (p.Asp1278=)
NM_181882.3(PRX):c.3835G>C (p.Val1279Leu) rs747247972
NM_181882.3(PRX):c.3846G>T (p.Ser1282=) rs143289108
NM_181882.3(PRX):c.384C>T (p.Asn128=)
NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser) rs555523161
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs2079410631
NM_181882.3(PRX):c.3859A>C (p.Asn1287His) rs2145725536
NM_181882.3(PRX):c.385_394dup (p.Leu132fs) rs1599656972
NM_181882.3(PRX):c.3863A>T (p.His1288Leu) rs1568702462
NM_181882.3(PRX):c.3867C>G (p.Ala1289=)
NM_181882.3(PRX):c.3867C>T (p.Ala1289=) rs759245840
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys) rs773955274
NM_181882.3(PRX):c.3868G>T (p.Glu1290Ter) rs773955274
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3890A>G (p.Glu1297Gly) rs2049353803
NM_181882.3(PRX):c.3900C>G (p.Ala1300=) rs757223803
NM_181882.3(PRX):c.3900C>T (p.Ala1300=)
NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu) rs2079409567
NM_181882.3(PRX):c.3935G>T (p.Gly1312Val) rs764644013
NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys) rs748063094
NM_181882.3(PRX):c.3972G>A (p.Glu1324=) rs2145725286
NM_181882.3(PRX):c.3985C>A (p.Pro1329Thr) rs1337046069
NM_181882.3(PRX):c.3997C>T (p.Leu1333=) rs2145725256
NM_181882.3(PRX):c.4004G>A (p.Arg1335Gln) rs1384489319
NM_181882.3(PRX):c.4028T>C (p.Met1343Thr)
NM_181882.3(PRX):c.4030G>A (p.Val1344Ile) rs2079407989
NM_181882.3(PRX):c.4035T>A (p.Thr1345=)
NM_181882.3(PRX):c.4048C>T (p.Pro1350Ser)
NM_181882.3(PRX):c.4050del (p.Ser1351fs) rs766124869
NM_181882.3(PRX):c.4056C>T (p.Pro1352=)
NM_181882.3(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.3(PRX):c.4059GGA[4] (p.Glu1359_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4059GGA[9] (p.Glu1360_Glu1361dup) rs139624657
NM_181882.3(PRX):c.406A>G (p.Lys136Glu) rs2079459199
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del) rs778666575
NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn) rs1197436795
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4099dup (p.Ala1367fs) rs768199280
NM_181882.3(PRX):c.4101C>T (p.Ala1367=)
NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs) rs1487409170
NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser) rs371438221
NM_181882.3(PRX):c.4108C>T (p.Arg1370Cys) rs371438221
NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)
NM_181882.3(PRX):c.4110C>A (p.Arg1370=) rs2145724978
NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3]) rs748943829
NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp) rs1049231899
NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)
NM_181882.3(PRX):c.4131C>A (p.Arg1377=) rs2145724900
NM_181882.3(PRX):c.4134G>A (p.Leu1378=) rs2079406117
NM_181882.3(PRX):c.4146C>T (p.Gly1382=) rs2079405908
NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp) rs369072136
NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro) rs917161355
NM_181882.3(PRX):c.4173G>A (p.Arg1391=)
NM_181882.3(PRX):c.4176G>A (p.Gly1392=)
NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)
NM_181882.3(PRX):c.4185C>T (p.Gly1395=)
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu) rs764183288
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs1296150158
NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)
NM_181882.3(PRX):c.4207G>A (p.Val1403Ile) rs139051512
NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)
NM_181882.3(PRX):c.4224C>G (p.Pro1408=) rs1555800370
NM_181882.3(PRX):c.4232G>A (p.Arg1411His) rs1005254872
NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly) rs2145724711
NM_181882.3(PRX):c.4243G>A (p.Val1415Met) rs201222650
NM_181882.3(PRX):c.4251A>G (p.Leu1417=)
NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn) rs375802521
NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg) rs895345246
NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn) rs2145724650
NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg) rs754032938
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs2079404176
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr) rs2079404139
NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys) rs2145724616
NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)
NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)
NM_181882.3(PRX):c.4304T>C (p.Val1435Ala) rs878855285
NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp) rs1332674327
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile) rs2079403599
NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg) rs372280596
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln) rs2079403438
NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser) rs368067072
NM_181882.3(PRX):c.4335A>G (p.Thr1445=)
NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)
NM_181882.3(PRX):c.4365G>A (p.Gly1455=) rs2079402966
NM_181882.3(PRX):c.439G>A (p.Val147Ile)
NM_181882.3(PRX):c.444C>G (p.Pro148=) rs765210929
NM_181882.3(PRX):c.445G>T (p.Ala149Ser) rs142436391
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.461T>C (p.Val154Ala) rs1555801518
NM_181882.3(PRX):c.464A>T (p.Asp155Val) rs2079458431
NM_181882.3(PRX):c.466G>T (p.Val156Phe) rs562267802
NM_181882.3(PRX):c.469G>A (p.Glu157Lys) rs149219327
NM_181882.3(PRX):c.474C>T (p.Phe158=) rs1286146998
NM_181882.3(PRX):c.478_492del (p.Phe160_Ser164del) rs1555801508
NM_181882.3(PRX):c.479T>C (p.Phe160Ser) rs2079458015
NM_181882.3(PRX):c.489C>T (p.Phe163=) rs2145732977
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.509T>C (p.Leu170Pro) rs1387520113
NM_181882.3(PRX):c.551C>G (p.Ala184Gly) rs951064135
NM_181882.3(PRX):c.560G>A (p.Arg187His)
NM_181882.3(PRX):c.573T>A (p.Pro191=)
NM_181882.3(PRX):c.577C>T (p.Leu193=) rs1007677763
NM_181882.3(PRX):c.586C>A (p.Arg196=)
NM_181882.3(PRX):c.586C>G (p.Arg196Gly) rs104894706
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.3(PRX):c.587G>A (p.Arg196Gln) rs757381967
NM_181882.3(PRX):c.587G>C (p.Arg196Pro) rs757381967
NM_181882.3(PRX):c.594G>T (p.Val198=)
NM_181882.3(PRX):c.597C>A (p.Ala199=)
NM_181882.3(PRX):c.597C>G (p.Ala199=) rs144157275
NM_181882.3(PRX):c.598G>C (p.Glu200Gln) rs767207935
NM_181882.3(PRX):c.604G>T (p.Ala202Ser) rs759241041
NM_181882.3(PRX):c.607C>T (p.Gln203Ter) rs2079456028
NM_181882.3(PRX):c.615_616delinsTT (p.Arg206Trp) rs1568709522
NM_181882.3(PRX):c.616C>T (p.Arg206Trp)
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_181882.3(PRX):c.630C>T (p.Ala210=)
NM_181882.3(PRX):c.631G>A (p.Ala211Thr) rs112973322
NM_181882.3(PRX):c.631G>T (p.Ala211Ser) rs112973322
NM_181882.3(PRX):c.641C>A (p.Pro214His) rs368874138
NM_181882.3(PRX):c.642C>G (p.Pro214=)
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.655G>A (p.Val219Met)
NM_181882.3(PRX):c.666G>A (p.Glu222=) rs2145732499
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs532808153
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.700G>A (p.Val234Met)
NM_181882.3(PRX):c.703G>A (p.Glu235Lys) rs2079454238
NM_181882.3(PRX):c.705G>T (p.Glu235Asp) rs2079454196
NM_181882.3(PRX):c.706C>T (p.Leu236=)
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.730G>A (p.Ala244Thr) rs771211272
NM_181882.3(PRX):c.730G>T (p.Ala244Ser) rs771211272
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.731C>A (p.Ala244Glu) rs118071705
NM_181882.3(PRX):c.735G>A (p.Glu245=)
NM_181882.3(PRX):c.740G>A (p.Gly247Asp) rs1568709200
NM_181882.3(PRX):c.744C>A (p.Val248=)
NM_181882.3(PRX):c.761C>T (p.Pro254Leu) rs748153822
NM_181882.3(PRX):c.768T>G (p.Ala256=)
NM_181882.3(PRX):c.771C>T (p.Ala257=) rs1555801357
NM_181882.3(PRX):c.773C>A (p.Pro258His) rs2079453076
NM_181882.3(PRX):c.773_774dup (p.Ser259fs) rs1599656136
NM_181882.3(PRX):c.774C>A (p.Pro258=)
NM_181882.3(PRX):c.786A>C (p.Ala262=)
NM_181882.3(PRX):c.800C>T (p.Ala267Val) rs1030892757
NM_181882.3(PRX):c.805C>T (p.His269Tyr)
NM_181882.3(PRX):c.819T>C (p.Leu273=)
NM_181882.3(PRX):c.821G>A (p.Gly274Glu) rs2145732081
NM_181882.3(PRX):c.822G>T (p.Gly274=)
NM_181882.3(PRX):c.829G>T (p.Ala277Ser) rs1458620221
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762
NM_181882.3(PRX):c.844G>C (p.Ala282Pro) rs769945580
NM_181882.3(PRX):c.847G>T (p.Val283Leu)
NM_181882.3(PRX):c.861C>A (p.Ala287=) rs535958285
NM_181882.3(PRX):c.861C>T (p.Ala287=) rs535958285
NM_181882.3(PRX):c.862G>C (p.Val288Leu) rs568618329
NM_181882.3(PRX):c.875_906del (p.Val292fs) rs1599655871
NM_181882.3(PRX):c.876C>T (p.Val292=)
NM_181882.3(PRX):c.886G>A (p.Glu296Lys) rs2079451469
NM_181882.3(PRX):c.888G>A (p.Glu296=)
NM_181882.3(PRX):c.903C>G (p.Pro301=) rs2145731882
NM_181882.3(PRX):c.904T>C (p.Ser302Pro)
NM_181882.3(PRX):c.914C>T (p.Thr305Ile)
NM_181882.3(PRX):c.915_923dup (p.305TLP[3]) rs1170437868
NM_181882.3(PRX):c.917T>C (p.Leu306Pro)
NM_181882.3(PRX):c.924A>T (p.Thr308=) rs1599655829
NM_181882.3(PRX):c.925C>A (p.Leu309Ile)
NM_181882.3(PRX):c.927T>G (p.Leu309=) rs1599655820
NM_181882.3(PRX):c.930C>T (p.Pro310=) rs1301252557
NM_181882.3(PRX):c.946G>C (p.Glu316Gln) rs1555801306
NM_181882.3(PRX):c.956T>G (p.Val319Gly)
NM_181882.3(PRX):c.979del (p.Asp327fs) rs1568708792
NM_181882.3(PRX):c.985G>A (p.Ala329Thr) rs745593860

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