ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 583
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HGVS dbSNP
NC_000019.10:g.(?_40403686)_(40403882_?)del
NC_000019.10:g.(?_40403696)_(40403872_?)del
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NM_020956.2(PRX):c.*1020C>T rs747384252
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1038C>T rs886054440
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1052G>A rs535087433
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1080_*1111del rs1599655871
NM_020956.2(PRX):c.*1097C>T rs185112635
NM_020956.2(PRX):c.*1120_*1128dup rs1170437868
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1129A>T rs1599655829
NM_020956.2(PRX):c.*1132T>G rs1599655820
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1151G>C rs1555801306
NM_020956.2(PRX):c.*1165G>A rs775367319
NM_020956.2(PRX):c.*1171G>T rs139544245
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1197C>T rs566629777
NM_020956.2(PRX):c.*1198G>A rs146323928
NM_020956.2(PRX):c.*1199A>G rs143710873
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*1218C>T rs1368840723
NM_020956.2(PRX):c.*1224C>T rs780373582
NM_020956.2(PRX):c.*1231A>C rs150772010
NM_020956.2(PRX):c.*1245G>A rs141288626
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1292C>G rs886054439
NM_020956.2(PRX):c.*1295C>T rs144183238
NM_020956.2(PRX):c.*1296G>A rs561482109
NM_020956.2(PRX):c.*1305C>A rs143400291
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1334G>T rs754081921
NM_020956.2(PRX):c.*1346A>C rs1049349860
NM_020956.2(PRX):c.*1349C>G rs759440986
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1399_*1402del rs1599655206
NM_020956.2(PRX):c.*1416G>A rs146948818
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1460A>T rs766358380
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1574G>C rs142064826
NM_020956.2(PRX):c.*1592G>T rs764004836
NM_020956.2(PRX):c.*1595C>T rs574861276
NM_020956.2(PRX):c.*1596G>A rs553211374
NM_020956.2(PRX):c.*1665C>T rs778936443
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1715C>T rs192607896
NM_020956.2(PRX):c.*1743C>T rs148742209
NM_020956.2(PRX):c.*1751C>T rs144305922
NM_020956.2(PRX):c.*1773T>C rs550446238
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1783_*1806dup rs764208864
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1818T>C rs765791679
NM_020956.2(PRX):c.*1829C>T rs201337455
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1844C>T rs1254691308
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*1863A>G rs879254301
NM_020956.2(PRX):c.*1871_*1948del rs1599654291
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*1923A>G rs1289149165
NM_020956.2(PRX):c.*1995A>G rs746698242
NM_020956.2(PRX):c.*2018C>T rs1555801070
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2042G>A rs773222045
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2096C>G rs886054438
NM_020956.2(PRX):c.*2103A>T rs1599654002
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2111C>T rs756785716
NM_020956.2(PRX):c.*2140C>T rs763132536
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2170G>A rs186171971
NM_020956.2(PRX):c.*2184C>T rs748737580
NM_020956.2(PRX):c.*2204C>G rs1599653741
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2238T>C rs1568706919
NM_020956.2(PRX):c.*2240C>T rs1469912467
NM_020956.2(PRX):c.*2241G>A rs145856805
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.*2249G>T rs761277865
NM_020956.2(PRX):c.*2261C>A rs374232032
NM_020956.2(PRX):c.*2276A>C rs886054437
NM_020956.2(PRX):c.*2282C>G rs758696889
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2339C>T rs1463490551
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2363C>T rs1599653417
NM_020956.2(PRX):c.*2369A>G rs376309142
NM_020956.2(PRX):c.*2414G>A rs1237761863
NM_020956.2(PRX):c.*2420G>A rs779294844
NM_020956.2(PRX):c.*2426C>T rs1599653314
NM_020956.2(PRX):c.*2434C>T rs144975214
NM_020956.2(PRX):c.*2448C>T rs111252437
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*2487C>T rs530370432
NM_020956.2(PRX):c.*2490A>G rs202165534
NM_020956.2(PRX):c.*2494del rs797045102
NM_020956.2(PRX):c.*2497C>G rs142637195
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2498G>A rs541455813
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2501G>A rs763619423
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2516G>C rs1568706134
NM_020956.2(PRX):c.*2558A>G rs780270731
NM_020956.2(PRX):c.*2645T>C rs201809431
NM_020956.2(PRX):c.*2654C>T rs147441856
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2699G>C rs116139153
NM_020956.2(PRX):c.*2739C>T rs750952608
NM_020956.2(PRX):c.*2741C>T rs765595266
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2756_*2757TC[1] rs1599652748
NM_020956.2(PRX):c.*2778A>G rs1017754371
NM_020956.2(PRX):c.*2810G>A rs1555800819
NM_020956.2(PRX):c.*2825G>A rs145790961
NM_020956.2(PRX):c.*2846C>A rs375201649
NM_020956.2(PRX):c.*2846C>T rs375201649
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2856G>A rs139005780
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2882G>A rs201270794
NM_020956.2(PRX):c.*2894C>T rs756689732
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2933G>A rs145203783
NM_020956.2(PRX):c.*2935C>T rs878855283
NM_020956.2(PRX):c.*2936G>A rs377457671
NM_020956.2(PRX):c.*2949A>T rs899773763
NM_020956.2(PRX):c.*2951G>C rs775152960
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*3021C>G rs761769929
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3037T>C rs145226687
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3059G>C rs1060502972
NM_020956.2(PRX):c.*3081T>C rs1568704784
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3121G>T rs1555800751
NM_020956.2(PRX):c.*3126_*3146del rs748965299
NM_020956.2(PRX):c.*3138A>G rs767386430
NM_020956.2(PRX):c.*3182A>T rs1234629496
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T rs996865233
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3242G>A rs548086012
NM_020956.2(PRX):c.*3246T>C rs766119564
NM_020956.2(PRX):c.*3299G>A rs772431799
NM_020956.2(PRX):c.*3315A>G rs148600818
NM_020956.2(PRX):c.*3350G>A rs186086914
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3414G>A rs146222815
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3425G>A rs886054436
NM_020956.2(PRX):c.*3443C>T rs200045096
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.*3493C>A rs375122789
NM_020956.2(PRX):c.*3551G>T rs148075077
NM_020956.2(PRX):c.*3557G>A rs143654708
NM_020956.2(PRX):c.*3557G>T rs143654708
NM_020956.2(PRX):c.*3571G>A rs952933935
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3580C>T rs755560307
NM_020956.2(PRX):c.*3581C>A rs1483705612
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3605G>T rs786204203
NM_020956.2(PRX):c.*3621A>G rs1268527552
NM_020956.2(PRX):c.*3623G>A rs1599651064
NM_020956.2(PRX):c.*3624A>T rs923473427
NM_020956.2(PRX):c.*3652C>T rs1599651000
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3713G>A rs759410504
NM_020956.2(PRX):c.*3754C>T rs367876251
NM_020956.2(PRX):c.*3767C>A rs878855284
NM_020956.2(PRX):c.*3767C>T rs878855284
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3788C>T rs1555800544
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3908G>T rs1385904344
NM_020956.2(PRX):c.*3912C>T rs142501082
NM_020956.2(PRX):c.*3913G>A rs202119177
NM_020956.2(PRX):c.*3922C>T rs764955913
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3974G>A rs200332462
NM_020956.2(PRX):c.*3977_*3978delinsA rs1599650427
NM_020956.2(PRX):c.*3980G>A rs751742049
NM_020956.2(PRX):c.*4004G>A rs542711361
NM_020956.2(PRX):c.*4007G>A rs146061247
NM_020956.2(PRX):c.*4007G>C rs146061247
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4036C>G rs577796628
NM_020956.2(PRX):c.*4040G>C rs747247972
NM_020956.2(PRX):c.*4043G>C rs146205352
NM_020956.2(PRX):c.*4050C>T rs753530396
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4054A>G rs757247849
NM_020956.2(PRX):c.*4057C>T rs567324732
NM_020956.2(PRX):c.*4058G>A rs374370759
NM_020956.2(PRX):c.*4068A>T rs1568702462
NM_020956.2(PRX):c.*4072C>T rs759245840
NM_020956.2(PRX):c.*4073G>A rs773955274
NM_020956.2(PRX):c.*4073G>T rs773955274
NM_020956.2(PRX):c.*4091G>C rs769014032
NM_020956.2(PRX):c.*4124C>T rs752593001
NM_020956.2(PRX):c.*4140G>T rs764644013
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4209G>A rs1384489319
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4263A>C rs1555800424
NM_020956.2(PRX):c.*4264_*4266GGA[5] rs139624657
NM_020956.2(PRX):c.*4313C>A rs371438221
NM_020956.2(PRX):c.*4314G>A rs756687548
NM_020956.2(PRX):c.*4316C>T rs753339248
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4320G>T rs751906783
NM_020956.2(PRX):c.*4322C>T rs766729202
NM_020956.2(PRX):c.*4323G>A rs763294661
NM_020956.2(PRX):c.*4326T>G rs773512610
NM_020956.2(PRX):c.*4334C>T rs768524850
NM_020956.2(PRX):c.*4335G>A rs200835105
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4357G>A rs756887163
NM_020956.2(PRX):c.*4362C>A rs372582520
NM_020956.2(PRX):c.*4376C>G rs369072136
NM_020956.2(PRX):c.*4376C>T rs369072136
NM_020956.2(PRX):c.*4401C>T rs764183288
NM_020956.2(PRX):c.*4412G>A rs139051512
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4429C>G rs1555800370
NM_020956.2(PRX):c.*4436C>T rs533966999
NM_020956.2(PRX):c.*4437G>T rs1005254872
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*4470G>A rs142436702
NM_020956.2(PRX):c.*4475G>A rs754032938
NM_020956.2(PRX):c.*4475G>C rs754032938
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4509T>C rs878855285
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4522C>T rs372280596
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*4554C>T rs369949312
NM_020956.2(PRX):c.*4571G>C rs149093940
NM_020956.2(PRX):c.*4581C>T rs373051724
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*590_*599dup rs1599656972
NM_020956.2(PRX):c.*650G>A rs142436391
NM_020956.2(PRX):c.*662C>T rs760295364
NM_020956.2(PRX):c.*666T>C rs1555801518
NM_020956.2(PRX):c.*674G>A rs149219327
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*690A>C rs879254072
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*704C>T rs10425452
NM_020956.2(PRX):c.*705G>A rs757322355
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*708G>A rs763833871
NM_020956.2(PRX):c.*714T>C rs1387520113
NM_020956.2(PRX):c.*744C>T rs540526276
NM_020956.2(PRX):c.*745G>A rs371243093
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*764C>T rs768929130
NM_020956.2(PRX):c.*785C>T rs45521038
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*792G>C rs757381967
NM_020956.2(PRX):c.*794G>T rs753857146
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.*833G>A rs775981300
NM_020956.2(PRX):c.*836G>T rs112973322
NM_020956.2(PRX):c.*839C>A rs771156102
NM_020956.2(PRX):c.*846C>G rs368874138
NM_020956.2(PRX):c.*847C>A rs551628239
NM_020956.2(PRX):c.*878G>T rs754734195
NM_020956.2(PRX):c.*887C>G rs751238438
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*888G>A rs562108874
NM_020956.2(PRX):c.*921C>T rs528907584
NM_020956.2(PRX):c.*923C>T rs199863083
NM_020956.2(PRX):c.*924G>A rs77917609
NM_020956.2(PRX):c.*932G>A rs774726424
NM_020956.2(PRX):c.*935G>A rs771211272
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.*945G>A rs1568709200
NM_020956.2(PRX):c.*952C>T rs3814289
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*978_*979dup rs1599656136
NM_020956.2(PRX):c.*999G>T rs374837022
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.102A>C (p.Val34=) rs761347226
NM_020956.2(PRX):c.116_117del (p.Lys39fs) rs1599662861
NM_020956.2(PRX):c.124_125dup (p.Phe43fs) rs1599662837
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.13A>G (p.Ser5Gly) rs767350599
NM_020956.2(PRX):c.145G>T (p.Glu49Ter) rs1024162447
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_020956.2(PRX):c.176T>C (p.Leu59Pro) rs748318191
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) rs752192677
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) rs1599657876
NM_020956.2(PRX):c.256T>C (p.Cys86Arg) rs765676916
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) rs561203828
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.335T>C (p.Val112Ala) rs760944190
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.80C>A (p.Thr27Asn) rs1291881750
NM_181882.3(PRX):c.*168C>A
NM_181882.3(PRX):c.*45C>T
NM_181882.3(PRX):c.-100+10C>T
NM_181882.3(PRX):c.104C>A (p.Ala35Glu) rs138047753
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser)
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
NM_181882.3(PRX):c.122del (p.Gly41fs)
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
NM_181882.3(PRX):c.1300G>C (p.Val434Leu)
NM_181882.3(PRX):c.1308G>A (p.Val436=) rs771496284
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr)
NM_181882.3(PRX):c.134G>C (p.Arg45Pro)
NM_181882.3(PRX):c.138G>C (p.Glu46Asp)
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu)
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp)
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3])
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe)
NM_181882.3(PRX):c.1558G>A (p.Val520Ile)
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del)
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
NM_181882.3(PRX):c.1638A>G (p.Val546=)
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del)
NM_181882.3(PRX):c.1647G>C (p.Pro549=) rs202113722
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
NM_181882.3(PRX):c.16C>T (p.Arg6Trp)
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln)
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe)
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
NM_181882.3(PRX):c.184+2T>C
NM_181882.3(PRX):c.184+3G>T
NM_181882.3(PRX):c.184G>A (p.Gly62Arg)
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly)
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
NM_181882.3(PRX):c.1869T>G (p.Leu623=)
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del)
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg)
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys)
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)
NM_181882.3(PRX):c.1980G>T (p.Pro660=) rs777413169
NM_181882.3(PRX):c.1986C>T (p.Val662=)
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly)
NM_181882.3(PRX):c.1993A>G (p.Met665Val)
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys) rs761277865
NM_181882.3(PRX):c.2047G>A (p.Val683Met) rs575075163
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr)
NM_181882.3(PRX):c.2100C>T (p.Ala700=) rs757528702
NM_181882.3(PRX):c.2106C>T (p.Pro702=) rs183461864
NM_181882.3(PRX):c.2113C>T (p.His705Tyr)
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu)
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe)
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp)
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu)
NM_181882.3(PRX):c.2274G>T (p.Met758Ile)
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg)
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly)
NM_181882.3(PRX):c.236A>T (p.Asp79Val)
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
NM_181882.3(PRX):c.2425C>T (p.Leu809=) rs145272609
NM_181882.3(PRX):c.2432G>T (p.Arg811Met)
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg)
NM_181882.3(PRX):c.2463C>T (p.Gly821=)
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro)
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg)
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)
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
NM_181882.3(PRX):c.2697C>T (p.Pro899=)
NM_181882.3(PRX):c.27+1G>T
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro)
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr)
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp)
NM_181882.3(PRX):c.2942G>T (p.Gly981Val)
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
NM_181882.3(PRX):c.300G>A (p.Val100=)
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg)
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) rs1599651726
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
NM_181882.3(PRX):c.3237T>C (p.Asp1079=) rs774823527
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp)
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly)
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe)
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys)
NM_181882.3(PRX):c.3294G>A (p.Glu1098=) rs1599651349
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp)
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile)
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
NM_181882.3(PRX):c.3531A>G (p.Ala1177=) rs1465687338
NM_181882.3(PRX):c.3588A>G (p.Gly1196=) rs372745419
NM_181882.3(PRX):c.358C>A (p.Pro120Thr)
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys)
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val)
NM_181882.3(PRX):c.370G>A (p.Val124Met)
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
NM_181882.3(PRX):c.381+22C>A rs1316795222
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp)
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
NM_181882.3(PRX):c.3963G>A (p.Glu1321=) rs781159482
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
NM_181882.3(PRX):c.4030G>A (p.Val1344Ile)
NM_181882.3(PRX):c.4050del (p.Ser1351fs)
NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del)
NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn)
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu)
NM_181882.3(PRX):c.4119_4124GGTCCG[3] (p.1374_1375VR[3]) rs748943829
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr)
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp)
NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp)
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile)
NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser)
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
NM_181882.3(PRX):c.445G>T (p.Ala149Ser)
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.464A>T (p.Asp155Val)
NM_181882.3(PRX):c.466G>A (p.Val156Ile)
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
NM_181882.3(PRX):c.557G>A (p.Arg186Gln)
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
NM_181882.3(PRX):c.598G>A (p.Glu200Lys)
NM_181882.3(PRX):c.59T>C (p.Ile20Thr)
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
NM_181882.3(PRX):c.624C>T (p.Ala208=) rs777019611
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_181882.3(PRX):c.631G>A (p.Ala211Thr) rs112973322
NM_181882.3(PRX):c.641C>A (p.Pro214His)
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.732G>A (p.Ala244=) rs769735682
NM_181882.3(PRX):c.793G>A (p.Gly265Ser)
NM_181882.3(PRX):c.800C>T (p.Ala267Val)
NM_181882.3(PRX):c.825C>T (p.Leu275=)
NM_181882.3(PRX):c.82G>A (p.Gly28Arg)
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
NM_181882.3(PRX):c.844G>C (p.Ala282Pro)
NM_181882.3(PRX):c.861C>T (p.Ala287=)
NM_181882.3(PRX):c.886G>A (p.Glu296Lys)
NM_181882.3(PRX):c.899T>C (p.Leu300Ser) rs748380935
NM_181882.3(PRX):c.934C>T (p.Leu312=) rs369792380
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549
NM_181882.3(PRX):c.959C>T (p.Ser320Leu)

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