ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 355
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HGVS dbSNP
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2494del rs797045102
NM_020956.2(PRX):c.*3126_*3146del
NM_020956.2(PRX):c.*3304del
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.-114T>G rs367716653
NM_020956.2(PRX):c.-143G>A rs559995627
NM_020956.2(PRX):c.-160C>T rs763423646
NM_020956.2(PRX):c.-198-14C>T rs886054442
NM_020956.2(PRX):c.-199+7G>C rs541213273
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.13A>G (p.Ser5Gly)
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.176T>C (p.Leu59Pro)
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
NM_020956.2(PRX):c.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
NM_020956.2(PRX):c.27+8C>A rs769214562
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile)
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_020956.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_020956.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_020956.2(PRX):c.75G>A (p.Ala25=) rs766160977
NM_020956.2(PRX):c.80C>A (p.Thr27Asn) rs1291881750
NM_181882.2(PRX):c.1013C>T (p.Ala338Val) rs1368840723
NM_181882.2(PRX):c.1019C>T (p.Pro340Leu) rs780373582
NM_181882.2(PRX):c.1026A>C (p.Ala342=) rs150772010
NM_181882.2(PRX):c.1040G>A (p.Arg347Gln)
NM_181882.2(PRX):c.1051C>T (p.Pro351Ser) rs73933276
NM_181882.2(PRX):c.1087C>G (p.Pro363Ala) rs886054439
NM_181882.2(PRX):c.1090C>T (p.Arg364Ter)
NM_181882.2(PRX):c.1091G>A (p.Arg364Gln)
NM_181882.2(PRX):c.1100C>A (p.Ala367Asp) rs143400291
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1129G>T (p.Val377Leu) rs754081921
NM_181882.2(PRX):c.1141A>C (p.Ser381Arg) rs1049349860
NM_181882.2(PRX):c.1144C>G (p.Pro382Ala)
NM_181882.2(PRX):c.1173del (p.Arg392fs)
NM_181882.2(PRX):c.1174C>T (p.Arg392Ter) rs773009397
NM_181882.2(PRX):c.1211G>A (p.Arg404Gln)
NM_181882.2(PRX):c.1215C>T (p.Pro405=) rs377184301
NM_181882.2(PRX):c.1216G>A (p.Ala406Thr) rs117336941
NM_181882.2(PRX):c.1222C>T (p.Pro408Ser) rs150244426
NM_181882.2(PRX):c.1255A>T (p.Thr419Ser)
NM_181882.2(PRX):c.1281C>T (p.Ile427=) rs76960467
NM_181882.2(PRX):c.1369G>A (p.Glu457Lys) rs142064826
NM_181882.2(PRX):c.1369G>C (p.Glu457Gln) rs142064826
NM_181882.2(PRX):c.1387G>T (p.Val463Phe)
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.1391G>A (p.Arg464Gln) rs553211374
NM_181882.2(PRX):c.1460C>T (p.Pro487Leu)
NM_181882.2(PRX):c.1461G>A (p.Pro487=) rs757009052
NM_181882.2(PRX):c.1500A>G (p.Ser500=) rs777104457
NM_181882.2(PRX):c.1510C>T (p.Leu504Phe) rs192607896
NM_181882.2(PRX):c.1538C>T (p.Pro513Leu)
NM_181882.2(PRX):c.1546C>T (p.Arg516Trp) rs144305922
NM_181882.2(PRX):c.1568T>C (p.Leu523Pro) rs550446238
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.1578G>A (p.Ser526=) rs567690884
NM_181882.2(PRX):c.1578_1601dup (p.Lys529_Met536dup) rs764208864
NM_181882.2(PRX):c.1585A>G (p.Lys529Glu)
NM_181882.2(PRX):c.1613T>C (p.Val538Ala) rs765791679
NM_181882.2(PRX):c.1624C>T (p.Arg542Trp) rs201337455
NM_181882.2(PRX):c.1625G>A (p.Arg542Gln) rs139586219
NM_181882.2(PRX):c.1639C>T (p.Gln547Ter)
NM_181882.2(PRX):c.1651G>A (p.Val551Met) rs61733448
NM_181882.2(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.2(PRX):c.1714G>A (p.Val572Met) rs370979792
NM_181882.2(PRX):c.1718A>G (p.Gln573Arg) rs1289149165
NM_181882.2(PRX):c.1790A>G (p.Glu597Gly)
NM_181882.2(PRX):c.1813C>T (p.Leu605Phe) rs1555801070
NM_181882.2(PRX):c.1828G>A (p.Glu610Lys) rs537664679
NM_181882.2(PRX):c.1836C>T (p.Ala612=) rs574899855
NM_181882.2(PRX):c.1837G>A (p.Val613Met) rs773222045
NM_181882.2(PRX):c.1864C>T (p.Gln622Ter)
NM_181882.2(PRX):c.1891C>G (p.Leu631Val) rs886054438
NM_181882.2(PRX):c.1898A>T (p.Glu633Val)
NM_181882.2(PRX):c.1906C>T (p.Leu636Phe)
NM_181882.2(PRX):c.1935C>T (p.Pro645=) rs763132536
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.1964C>T (p.Pro655Leu) rs118003416
NM_181882.2(PRX):c.1965G>A (p.Pro655=)
NM_181882.2(PRX):c.1979C>T (p.Pro660Leu) rs748737580
NM_181882.2(PRX):c.1980G>A (p.Pro660=) rs777413169
NM_181882.2(PRX):c.1999C>G (p.Leu667Val)
NM_181882.2(PRX):c.2017A>G (p.Met673Val) rs61735531
NM_181882.2(PRX):c.2033T>C (p.Val678Ala) rs1568706919
NM_181882.2(PRX):c.2035C>T (p.Arg679Ter)
NM_181882.2(PRX):c.2036G>A (p.Arg679Gln) rs145856805
NM_181882.2(PRX):c.2043C>T (p.Pro681=) rs56743160
NM_181882.2(PRX):c.2044G>T (p.Glu682Ter)
NM_181882.2(PRX):c.2056C>A (p.Pro686Thr)
NM_181882.2(PRX):c.2071A>C (p.Met691Leu) rs886054437
NM_181882.2(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.2(PRX):c.2101G>A (p.Val701Met) rs116855701
NM_181882.2(PRX):c.2134C>T (p.Pro712Ser)
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.2158C>T (p.Pro720Ser)
NM_181882.2(PRX):c.2164A>G (p.Met722Val) rs376309142
NM_181882.2(PRX):c.2209G>A (p.Val737Met) rs1237761863
NM_181882.2(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.2(PRX):c.2221C>T (p.His741Tyr)
NM_181882.2(PRX):c.2229C>T (p.Pro743=) rs144975214
NM_181882.2(PRX):c.2243C>T (p.Pro748Leu)
NM_181882.2(PRX):c.2254G>A (p.Glu752Lys) rs147587689
NM_181882.2(PRX):c.2282C>T (p.Pro761Leu) rs530370432
NM_181882.2(PRX):c.2285A>G (p.Lys762Arg)
NM_181882.2(PRX):c.2292C>G (p.Pro764=) rs142637195
NM_181882.2(PRX):c.2292C>T (p.Pro764=) rs142637195
NM_181882.2(PRX):c.2293G>A (p.Asp765Asn)
NM_181882.2(PRX):c.2293G>T (p.Asp765Tyr)
NM_181882.2(PRX):c.2307G>A (p.Pro769=) rs148655811
NM_181882.2(PRX):c.2311G>C (p.Ala771Pro) rs1568706134
NM_181882.2(PRX):c.2353A>G (p.Lys785Glu)
NM_181882.2(PRX):c.2421del (p.Lys808fs)
NM_181882.2(PRX):c.2440T>C (p.Ser814Pro)
NM_181882.2(PRX):c.2449C>T (p.Arg817Cys) rs147441856
NM_181882.2(PRX):c.2464G>A (p.Glu822Lys) rs772009400
NM_181882.2(PRX):c.2469G>A (p.Ala823=) rs61733450
NM_181882.2(PRX):c.2494G>C (p.Val832Leu) rs116139153
NM_181882.2(PRX):c.2534C>T (p.Ala845Val)
NM_181882.2(PRX):c.2536C>T (p.His846Tyr) rs765595266
NM_181882.2(PRX):c.2548C>G (p.Pro850Ala) rs141686828
NM_181882.2(PRX):c.2551_2552TC[1] (p.Thr853fs)
NM_181882.2(PRX):c.2573A>G (p.Glu858Gly)
NM_181882.2(PRX):c.2605G>A (p.Gly869Arg) rs1555800819
NM_181882.2(PRX):c.2619C>T (p.Ala873=) rs761066015
NM_181882.2(PRX):c.2620G>A (p.Ala874Thr) rs145790961
NM_181882.2(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.2(PRX):c.2641C>T (p.Arg881Trp) rs375201649
NM_181882.2(PRX):c.2645T>C (p.Val882Ala) rs268671
NM_181882.2(PRX):c.2651G>A (p.Gly884Asp) rs139005780
NM_181882.2(PRX):c.2655T>C (p.Pro885=) rs268672
NM_181882.2(PRX):c.2677G>A (p.Glu893Lys) rs201270794
NM_181882.2(PRX):c.2689C>T (p.Arg897Ter)
NM_181882.2(PRX):c.2690G>A (p.Arg897Gln) rs752531623
NM_181882.2(PRX):c.2727C>T (p.Pro909=) rs61735546
NM_181882.2(PRX):c.2728G>A (p.Ala910Thr) rs145203783
NM_181882.2(PRX):c.2730C>T (p.Ala910=) rs878855283
NM_181882.2(PRX):c.2731G>A (p.Val911Met)
NM_181882.2(PRX):c.2744A>T (p.Glu915Val)
NM_181882.2(PRX):c.2746G>C (p.Gly916Arg) rs775152960
NM_181882.2(PRX):c.2763A>G (p.Ile921Met) rs268673
NM_181882.2(PRX):c.2775C>T (p.Val925=) rs201792838
NM_181882.2(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.2(PRX):c.2816C>G (p.Ser939Trp) rs761769929
NM_181882.2(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.2(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.2(PRX):c.2854G>C (p.Gly952Arg) rs1060502972
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.2876T>C (p.Val959Ala) rs1568704784
NM_181882.2(PRX):c.2909G>A (p.Arg970Gln)
NM_181882.2(PRX):c.2916G>T (p.Gly972=) rs1555800751
NM_181882.2(PRX):c.2933A>G (p.Lys978Arg) rs767386430
NM_181882.2(PRX):c.2943G>A (p.Gly981=) rs142228732
NM_181882.2(PRX):c.2977A>T (p.Ile993Phe)
NM_181882.2(PRX):c.2999C>T (p.Ala1000Val) rs765924621
NM_181882.2(PRX):c.3011C>T (p.Ser1004Leu)
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751
NM_181882.2(PRX):c.3037G>A (p.Asp1013Asn)
NM_181882.2(PRX):c.3041T>C (p.Leu1014Pro)
NM_181882.2(PRX):c.3094G>A (p.Asp1032Asn) rs772431799
NM_181882.2(PRX):c.3145G>A (p.Gly1049Ser) rs186086914
NM_181882.2(PRX):c.3186G>T (p.Lys1062Asn) rs139188673
NM_181882.2(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.2(PRX):c.3198del (p.Phe1066fs)
NM_181882.2(PRX):c.3209G>A (p.Arg1070Gln) rs146222815
NM_181882.2(PRX):c.3218A>G (p.Glu1073Gly) rs61733451
NM_181882.2(PRX):c.3220G>A (p.Ala1074Thr) rs886054436
NM_181882.2(PRX):c.3238C>T (p.Arg1080Cys)
NM_181882.2(PRX):c.3248C>G (p.Pro1083Arg) rs3745202
NM_181882.2(PRX):c.3271G>A (p.Ala1091Thr) rs368459753
NM_181882.2(PRX):c.3288C>A (p.Ile1096=) rs375122789
NM_181882.2(PRX):c.3352G>A (p.Val1118Ile)
NM_181882.2(PRX):c.3352G>T (p.Val1118Phe) rs143654708
NM_181882.2(PRX):c.3375C>T (p.Gly1125=) rs755560307
NM_181882.2(PRX):c.3376C>A (p.Leu1126Met) rs1483705612
NM_181882.2(PRX):c.3394G>A (p.Gly1132Arg) rs268674
NM_181882.2(PRX):c.3400G>T (p.Val1134Leu) rs786204203
NM_181882.2(PRX):c.3416A>G (p.His1139Arg) rs1268527552
NM_181882.2(PRX):c.3418G>A (p.Asp1140Asn)
NM_181882.2(PRX):c.3419A>T (p.Asp1140Val) rs923473427
NM_181882.2(PRX):c.3447C>T (p.Gly1149=)
NM_181882.2(PRX):c.3508G>A (p.Ala1170Thr)
NM_181882.2(PRX):c.3549C>T (p.Tyr1183=) rs367876251
NM_181882.2(PRX):c.3562C>A (p.Pro1188Thr)
NM_181882.2(PRX):c.3562C>T (p.Pro1188Ser) rs878855284
NM_181882.2(PRX):c.3580C>G (p.Leu1194Val) rs149732789
NM_181882.2(PRX):c.3583C>T (p.Pro1195Ser) rs1555800544
NM_181882.2(PRX):c.3656C>T (p.Pro1219Leu) rs201393544
NM_181882.2(PRX):c.3702C>T (p.Gly1234=) rs139950446
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.2(PRX):c.3707C>T (p.Ala1236Val)
NM_181882.2(PRX):c.3708G>A (p.Ala1236=) rs202119177
NM_181882.2(PRX):c.3717C>T (p.Gly1239=)
NM_181882.2(PRX):c.3769G>A (p.Gly1257Arg) rs200332462
NM_181882.2(PRX):c.3775G>A (p.Glu1259Lys) rs751742049
NM_181882.2(PRX):c.3799G>A (p.Gly1267Arg) rs542711361
NM_181882.2(PRX):c.3802G>A (p.Ala1268Thr) rs146061247
NM_181882.2(PRX):c.3802G>C (p.Ala1268Pro) rs146061247
NM_181882.2(PRX):c.3804C>T (p.Ala1268=) rs553825184
NM_181882.2(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.2(PRX):c.3835G>C (p.Val1279Leu) rs747247972
NM_181882.2(PRX):c.3838G>C (p.Glu1280Gln) rs146205352
NM_181882.2(PRX):c.3845C>T (p.Ser1282Leu) rs753530396
NM_181882.2(PRX):c.3846G>A (p.Ser1282=) rs143289108
NM_181882.2(PRX):c.3849A>G (p.Pro1283=) rs757247849
NM_181882.2(PRX):c.3853G>A (p.Gly1285Arg) rs374370759
NM_181882.2(PRX):c.3863A>T (p.His1288Leu) rs1568702462
NM_181882.2(PRX):c.3867C>T (p.Ala1289=) rs759245840
NM_181882.2(PRX):c.3868G>A (p.Glu1290Lys) rs773955274
NM_181882.2(PRX):c.3868G>T (p.Glu1290Ter)
NM_181882.2(PRX):c.3886G>C (p.Gly1296Arg)
NM_181882.2(PRX):c.3919C>T (p.Arg1307Trp)
NM_181882.2(PRX):c.3935G>T (p.Gly1312Val)
NM_181882.2(PRX):c.3939G>A (p.Leu1313=) rs140109585
NM_181882.2(PRX):c.3947C>T (p.Ala1316Val) rs142762689
NM_181882.2(PRX):c.4004G>A (p.Arg1335Gln)
NM_181882.2(PRX):c.4017C>A (p.Ser1339Arg)
NM_181882.2(PRX):c.4044G>C (p.Gly1348=) rs76088917
NM_181882.2(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.2(PRX):c.4059_4061GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.2(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657
NM_181882.2(PRX):c.4108C>A (p.Arg1370Ser)
NM_181882.2(PRX):c.4109G>A (p.Arg1370His) rs756687548
NM_181882.2(PRX):c.4111C>T (p.Arg1371Trp) rs753339248
NM_181882.2(PRX):c.4112G>A (p.Arg1371Gln) rs377009047
NM_181882.2(PRX):c.4115G>T (p.Gly1372Val) rs751906783
NM_181882.2(PRX):c.4117C>T (p.Arg1373Trp) rs766729202
NM_181882.2(PRX):c.4118G>A (p.Arg1373Gln) rs763294661
NM_181882.2(PRX):c.4119_4124GGTCCG[3] (p.1374_1375VR[3])
NM_181882.2(PRX):c.4121T>G (p.Val1374Gly) rs773512610
NM_181882.2(PRX):c.4129C>T (p.Arg1377Cys) rs768524850
NM_181882.2(PRX):c.4130G>A (p.Arg1377His)
NM_181882.2(PRX):c.4138C>T (p.Arg1380Cys) rs771840476
NM_181882.2(PRX):c.4157C>A (p.Pro1386His) rs372582520
NM_181882.2(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.2(PRX):c.4171C>T (p.Arg1391Trp) rs369072136
NM_181882.2(PRX):c.4196C>T (p.Pro1399Leu) rs764183288
NM_181882.2(PRX):c.4207G>A (p.Val1403Ile) rs139051512
NM_181882.2(PRX):c.4219T>G (p.Ser1407Ala) rs146468976
NM_181882.2(PRX):c.4224C>G (p.Pro1408=) rs1555800370
NM_181882.2(PRX):c.4231C>T (p.Arg1411Cys)
NM_181882.2(PRX):c.4232G>T (p.Arg1411Leu)
NM_181882.2(PRX):c.4244_4246dup (p.Ser1416_Leu1417insLeu) rs771234852
NM_181882.2(PRX):c.4265G>A (p.Arg1422Gln)
NM_181882.2(PRX):c.4270G>A (p.Gly1424Arg) rs754032938
NM_181882.2(PRX):c.4270G>C (p.Gly1424Arg)
NM_181882.2(PRX):c.4301G>A (p.Arg1434Gln) rs759435622
NM_181882.2(PRX):c.4304T>C (p.Val1435Ala) rs878855285
NM_181882.2(PRX):c.4317C>T (p.Ser1439=) rs372280596
NM_181882.2(PRX):c.4318G>A (p.Val1440Met) rs138437458
NM_181882.2(PRX):c.4333A>G (p.Thr1445Ala) rs368067072
NM_181882.2(PRX):c.4349C>T (p.Pro1450Leu)
NM_181882.2(PRX):c.4366G>C (p.Ala1456Pro) rs149093940
NM_181882.2(PRX):c.4376C>T (p.Ala1459Val) rs373051724
NM_181882.2(PRX):c.445G>A (p.Ala149Thr) rs142436391
NM_181882.2(PRX):c.457C>T (p.Pro153Ser) rs760295364
NM_181882.2(PRX):c.461T>C (p.Val154Ala) rs1555801518
NM_181882.2(PRX):c.469G>A (p.Glu157Lys)
NM_181882.2(PRX):c.471G>A (p.Glu157=) rs4803335
NM_181882.2(PRX):c.485A>C (p.Lys162Thr) rs879254072
NM_181882.2(PRX):c.493C>T (p.Arg165Cys) rs555499679
NM_181882.2(PRX):c.499C>T (p.Arg167Cys) rs10425452
NM_181882.2(PRX):c.500G>A (p.Arg167His)
NM_181882.2(PRX):c.500G>C (p.Arg167Pro) rs757322355
NM_181882.2(PRX):c.502C>T (p.Arg168Trp) rs374193988
NM_181882.2(PRX):c.503G>A (p.Arg168Gln) rs763833871
NM_181882.2(PRX):c.509T>C (p.Leu170Pro) rs1387520113
NM_181882.2(PRX):c.539C>T (p.Pro180Leu) rs540526276
NM_181882.2(PRX):c.540G>A (p.Pro180=) rs371243093
NM_181882.2(PRX):c.554G>A (p.Arg185His) rs76756143
NM_181882.2(PRX):c.559C>T (p.Arg187Cys)
NM_181882.2(PRX):c.580C>T (p.Arg194Cys) rs45521038
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.587G>C (p.Arg196Pro)
NM_181882.2(PRX):c.589G>T (p.Glu197Ter)
NM_181882.2(PRX):c.597C>G (p.Ala199=) rs144157275
NM_181882.2(PRX):c.597C>T (p.Ala199=) rs144157275
NM_181882.2(PRX):c.627del (p.Ala210fs)
NM_181882.2(PRX):c.628G>A (p.Ala210Thr)
NM_181882.2(PRX):c.631G>T (p.Ala211Ser) rs112973322
NM_181882.2(PRX):c.634C>A (p.Pro212Thr) rs771156102
NM_181882.2(PRX):c.641C>G (p.Pro214Arg)
NM_181882.2(PRX):c.642C>A (p.Pro214=) rs551628239
NM_181882.2(PRX):c.642dup (p.Arg215fs)
NM_181882.2(PRX):c.673G>T (p.Ala225Ser)
NM_181882.2(PRX):c.682C>G (p.Arg228Gly)
NM_181882.2(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.2(PRX):c.683G>A (p.Arg228His) rs562108874
NM_181882.2(PRX):c.718C>T (p.Arg240Trp) rs199863083
NM_181882.2(PRX):c.719G>A (p.Arg240Gln) rs77917609
NM_181882.2(PRX):c.730G>A (p.Ala244Thr)
NM_181882.2(PRX):c.730del (p.Ala244fs)
NM_181882.2(PRX):c.731C>T (p.Ala244Val) rs118071705
NM_181882.2(PRX):c.740G>A (p.Gly247Asp) rs1568709200
NM_181882.2(PRX):c.747C>T (p.Pro249=) rs3814289
NM_181882.2(PRX):c.771C>T (p.Ala257=) rs1555801357
NM_181882.2(PRX):c.773_774dup (p.Ser259fs)
NM_181882.2(PRX):c.794G>T (p.Gly265Val) rs374837022
NM_181882.2(PRX):c.815C>T (p.Thr272Ile)
NM_181882.2(PRX):c.833C>T (p.Pro278Leu) rs886054440
NM_181882.2(PRX):c.839C>T (p.Pro280Leu) rs557355077
NM_181882.2(PRX):c.847G>A (p.Val283Met)
NM_181882.2(PRX):c.848T>G (p.Val283Gly) rs776556523
NM_181882.2(PRX):c.892C>T (p.Pro298Ser) rs185112635
NM_181882.2(PRX):c.915_923dup (p.305_307TLP[3])
NM_181882.2(PRX):c.922A>G (p.Thr308Ala) rs753330520
NM_181882.2(PRX):c.924A>T (p.Thr308=)
NM_181882.2(PRX):c.927T>G (p.Leu309=)
NM_181882.2(PRX):c.936A>G (p.Leu312=) rs752086513
NM_181882.2(PRX):c.946G>C (p.Glu316Gln) rs1555801306
NM_181882.2(PRX):c.960G>A (p.Ser320=) rs775367319
NM_181882.2(PRX):c.966G>T (p.Val322=) rs139544245
NM_181882.2(PRX):c.992C>T (p.Pro331Leu)
NM_181882.2(PRX):c.993G>A (p.Pro331=) rs146323928
NM_181882.2(PRX):c.994A>G (p.Thr332Ala) rs143710873

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