ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 883
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HGVS dbSNP
NC_000005.9:g.(?_148427405)_(148427572_?)del
NC_000005.9:g.(?_148442534)_(148442737_?)del
NC_000006.11:g.(?_110012619)_(110012724_?)del
NC_000006.11:g.(?_110062627)_(110064995_?)del
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)del
NC_000012.11:g.(?_32729286)_(32772810_?)del
NC_000012.11:g.(?_32751411)_(32751540_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001304480.1(FGD4):c.1569_1571AGA[3] (p.Glu526del) rs1264651352
NM_001304480.1(FGD4):c.2199_2200CA[1] (p.Thr734fs) rs1555223595
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln)
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp)
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu)
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=)
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr)
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg)
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly)
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr)
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.326+1G>A
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=)
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg)
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) rs779194865
NM_006096.3(NDRG1):c.571G>A (p.Val191Met)
NM_006096.3(NDRG1):c.582C>G (p.His194Gln)
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys)
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala)
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) rs904186690
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His) rs192324110
NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly)
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val)
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1271+5A>G
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly) rs535554973
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly)
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp)
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr)
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1750+3A>G
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln) rs192447225
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) rs540674198
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser)
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2181-10C>A
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.2459+5G>A
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys)
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys) rs145466148
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del)
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe)
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr)
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn)
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser)
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr)
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly) rs145714734
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln)
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met)
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg)
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr)
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1594-9T>G
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp)
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu)
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1878_1879AG[6] (p.Ala629fs) rs751292488
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly)
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met) rs750344055
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile)
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys)
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr) rs752402777
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe) rs755619139
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys)
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg)
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr)
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_020956.2(PRX):c.*1020C>T
NM_020956.2(PRX):c.*1038C>T rs886054440
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1052G>A
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1151G>C rs1555801306
NM_020956.2(PRX):c.*1197C>T
NM_020956.2(PRX):c.*1199A>G rs143710873
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
NM_020956.2(PRX):c.*1296G>A
NM_020956.2(PRX):c.*1305C>A rs143400291
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1346A>C rs1049349860
NM_020956.2(PRX):c.*1349C>G rs759440986
NM_020956.2(PRX):c.*1416G>A
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1460A>T
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1574G>C rs142064826
NM_020956.2(PRX):c.*1592G>T
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.*1688_*1765del rs1555801137
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.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783_*1806dup rs764208864
NM_020956.2(PRX):c.*1790A>G
NM_020956.2(PRX):c.*1818T>C rs765791679
NM_020956.2(PRX):c.*1863A>G rs879254301
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*1923A>G rs1289149165
NM_020956.2(PRX):c.*1995A>G
NM_020956.2(PRX):c.*2018C>T rs1555801070
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2042G>A rs773222045
NM_020956.2(PRX):c.*2103A>T
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.*2170G>A
NM_020956.2(PRX):c.*2184C>T rs748737580
NM_020956.2(PRX):c.*2204C>G
NM_020956.2(PRX):c.*2238T>C rs1568706919
NM_020956.2(PRX):c.*2241G>A rs145856805
NM_020956.2(PRX):c.*2261C>A
NM_020956.2(PRX):c.*2282C>G rs758696889
NM_020956.2(PRX):c.*2339C>T
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2363C>T
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
NM_020956.2(PRX):c.*2448C>T rs111252437
NM_020956.2(PRX):c.*2487C>T rs530370432
NM_020956.2(PRX):c.*2490A>G rs202165534
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2498G>A
NM_020956.2(PRX):c.*2498G>T rs541455813
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.*2739C>T rs750952608
NM_020956.2(PRX):c.*2753C>G rs141686828
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>T rs375201649
NM_020956.2(PRX):c.*2856G>A rs139005780
NM_020956.2(PRX):c.*2882G>A rs201270794
NM_020956.2(PRX):c.*2894C>T
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2933G>A rs145203783
NM_020956.2(PRX):c.*2936G>A rs377457671
NM_020956.2(PRX):c.*3021C>G rs761769929
NM_020956.2(PRX):c.*3024G>A rs1322545345
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
NM_020956.2(PRX):c.*3182A>T
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T
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.*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.*3443C>T rs200045096
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3557G>A rs143654708
NM_020956.2(PRX):c.*3557G>T rs143654708
NM_020956.2(PRX):c.*3581C>A rs1483705612
NM_020956.2(PRX):c.*3605G>T rs786204203
NM_020956.2(PRX):c.*3621A>G rs1268527552
NM_020956.2(PRX):c.*3623G>A
NM_020956.2(PRX):c.*3624A>T rs923473427
NM_020956.2(PRX):c.*3652C>T
NM_020956.2(PRX):c.*3713G>A
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.*3912C>T
NM_020956.2(PRX):c.*3922C>T
NM_020956.2(PRX):c.*3974G>A rs200332462
NM_020956.2(PRX):c.*3980G>A rs751742049
NM_020956.2(PRX):c.*4007G>A rs146061247
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4040G>C rs747247972
NM_020956.2(PRX):c.*4050C>T rs753530396
NM_020956.2(PRX):c.*4058G>A rs374370759
NM_020956.2(PRX):c.*4068A>T rs1568702462
NM_020956.2(PRX):c.*4073G>T
NM_020956.2(PRX):c.*4091G>C
NM_020956.2(PRX):c.*4124C>T rs752593001
NM_020956.2(PRX):c.*4140G>T
NM_020956.2(PRX):c.*4209G>A
NM_020956.2(PRX):c.*4222C>A
NM_020956.2(PRX):c.*4263A>C rs1555800424
NM_020956.2(PRX):c.*4313C>A rs371438221
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.*4324_*4329GGTCCG[3]
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.*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
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*4470G>A
NM_020956.2(PRX):c.*4475G>A rs754032938
NM_020956.2(PRX):c.*4475G>C
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.*4538A>G rs368067072
NM_020956.2(PRX):c.*4554C>T
NM_020956.2(PRX):c.*4571G>C rs149093940
NM_020956.2(PRX):c.*662C>T rs760295364
NM_020956.2(PRX):c.*666T>C rs1555801518
NM_020956.2(PRX):c.*674G>A
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*690A>C rs879254072
NM_020956.2(PRX):c.*705G>A
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.*764C>T rs768929130
NM_020956.2(PRX):c.*792G>C
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.*833G>A
NM_020956.2(PRX):c.*836G>T rs112973322
NM_020956.2(PRX):c.*839C>A rs771156102
NM_020956.2(PRX):c.*846C>G
NM_020956.2(PRX):c.*878G>T
NM_020956.2(PRX):c.*887C>G
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*923C>T rs199863083
NM_020956.2(PRX):c.*935G>A
NM_020956.2(PRX):c.*945G>A rs1568709200
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.13A>G (p.Ser5Gly) rs767350599
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) 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.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg) rs765676916
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.335T>C (p.Val112Ala)
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
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_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.3(SH3TC2):c.1031A>G (p.Glu344Gly)
NM_024577.3(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.3(SH3TC2):c.106T>C (p.Ser36Pro)
NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His)
NM_024577.3(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031
NM_024577.3(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met) rs138303846
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.3(SH3TC2):c.1260C>A (p.Ser420Arg)
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192
NM_024577.3(SH3TC2):c.1319G>A (p.Arg440His) rs755748579
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1326G>A (p.Pro442=) rs138967360
NM_024577.3(SH3TC2):c.1338C>A (p.Asp446Glu)
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791
NM_024577.3(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.3(SH3TC2):c.1522G>A (p.Val508Met) rs148155691
NM_024577.3(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.3(SH3TC2):c.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.164C>T (p.Ser55Phe)
NM_024577.3(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1843G>A (p.Val615Met)
NM_024577.3(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His) rs199991156
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394
NM_024577.3(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604
NM_024577.3(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595
NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val) rs146707871
NM_024577.3(SH3TC2):c.224G>A (p.Arg75Gln)
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2258G>A (p.Arg753Gln)
NM_024577.3(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.3(SH3TC2):c.2288T>C (p.Leu763Pro)
NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys)
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
NM_024577.3(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640
NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291
NM_024577.3(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.3(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2549G>C (p.Gly850Ala) rs749133472
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177
NM_024577.3(SH3TC2):c.257A>G (p.Gln86Arg) rs138429238
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.2582G>C (p.Arg861Pro)
NM_024577.3(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.279+4A>G rs371909418
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.3(SH3TC2):c.289G>A (p.Ala97Thr)
NM_024577.3(SH3TC2):c.2935G>T (p.Ala979Ser) rs369258246
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2957A>G (p.His986Arg)
NM_024577.3(SH3TC2):c.2989C>T (p.Arg997Trp) rs763331671
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3013G>A (p.Glu1005Lys)
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556
NM_024577.3(SH3TC2):c.3039C>A (p.Asn1013Lys) rs753381949
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036
NM_024577.3(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885
NM_024577.3(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.3(SH3TC2):c.3110T>A (p.Leu1037Gln)
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3157C>T (p.Leu1053Phe) rs772753479
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393
NM_024577.3(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987
NM_024577.3(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val)
NM_024577.3(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.3(SH3TC2):c.3371C>T (p.Thr1124Ile)
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717
NM_024577.3(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696
NM_024577.3(SH3TC2):c.362A>T (p.Lys121Met)
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3835C>T (p.Arg1279Trp) rs536334280
NM_024577.3(SH3TC2):c.3836G>A (p.Arg1279Gln)
NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.385+3A>G rs184593694
NM_024577.3(SH3TC2):c.3852_3854delTGG rs1554120043
NM_024577.3(SH3TC2):c.425A>G (p.His142Arg)
NM_024577.3(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.529+1G>A rs769410348
NM_024577.3(SH3TC2):c.539_541delTCT rs763476083
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met)
NM_024577.3(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.3(SH3TC2):c.574G>A (p.Glu192Lys) rs755054839
NM_024577.3(SH3TC2):c.629T>C (p.Met210Thr)
NM_024577.3(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.713T>G (p.Leu238Arg)
NM_024577.3(SH3TC2):c.732-6T>C rs1554122676
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr)
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_024577.3(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252
NM_024577.3(SH3TC2):c.826T>A (p.Leu276Met)
NM_024577.3(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.3(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.3(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403
NM_024577.3(SH3TC2):c.8G>A (p.Gly3Asp)
NM_024577.3(SH3TC2):c.908C>A (p.Pro303His) rs778572329
NM_024577.3(SH3TC2):c.929G>A (p.Gly310Glu) rs763949764
NM_024577.3(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1061A>C (p.Glu354Ala) rs761829741
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1130T>C (p.Ile377Thr)
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1183C>A (p.Gln395Lys)
NM_030962.3(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.3(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-2A>G rs752649372
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.3(SBF2):c.1337A>G (p.Asn446Ser) rs762615474
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1414A>G (p.Met472Val)
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1499G>A (p.Arg500Gln)
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln)
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508
NM_030962.3(SBF2):c.1600G>C (p.Val534Leu)
NM_030962.3(SBF2):c.1610T>C (p.Met537Thr) rs1278738726
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.3(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala)
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.2014A>G (p.Thr672Ala) rs770839510
NM_030962.3(SBF2):c.2024A>G (p.Asn675Ser)
NM_030962.3(SBF2):c.2050C>G (p.Leu684Val) rs146987383
NM_030962.3(SBF2):c.2081C>T (p.Ala694Val) rs141368249
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.2102A>G (p.Asp701Gly)
NM_030962.3(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2254A>G (p.Asn752Asp) rs775455068
NM_030962.3(SBF2):c.2260A>T (p.Met754Leu) rs745452169
NM_030962.3(SBF2):c.2329T>G (p.Trp777Gly) rs1321841784
NM_030962.3(SBF2):c.2338G>A (p.Gly780Arg) rs775404093
NM_030962.3(SBF2):c.2350A>G (p.Ile784Val) rs758912920
NM_030962.3(SBF2):c.2424T>A (p.Asn808Lys) rs146868794
NM_030962.3(SBF2):c.2431A>G (p.Ile811Val) rs764765082
NM_030962.3(SBF2):c.2450G>A (p.Arg817Gln) rs369653070
NM_030962.3(SBF2):c.2457T>G (p.Ile819Met) rs746363004
NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg) rs753921188
NM_030962.3(SBF2):c.2516G>C (p.Ser839Thr) rs1060500002
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.3(SBF2):c.2597C>T (p.Pro866Leu) rs143887793
NM_030962.3(SBF2):c.2689G>A (p.Gly897Arg) rs1554924568
NM_030962.3(SBF2):c.2789C>T (p.Thr930Ile) rs755578344
NM_030962.3(SBF2):c.279+4C>A
NM_030962.3(SBF2):c.2795A>G (p.His932Arg) rs1554924467
NM_030962.3(SBF2):c.2819C>T (p.Thr940Ile) rs756720332
NM_030962.3(SBF2):c.2828G>A (p.Arg943Gln) rs753298285
NM_030962.3(SBF2):c.2872A>G (p.Met958Val) rs901770002
NM_030962.3(SBF2):c.2883G>C (p.Gln961His) rs768147206
NM_030962.3(SBF2):c.2938A>G (p.Ile980Val) rs148625171
NM_030962.3(SBF2):c.2963T>G (p.Val988Gly) rs778766567
NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226
NM_030962.3(SBF2):c.3011G>A (p.Arg1004His)
NM_030962.3(SBF2):c.3040G>A (p.Ala1014Thr) rs1404127728
NM_030962.3(SBF2):c.3086A>G (p.Gln1029Arg) rs1297679145
NM_030962.3(SBF2):c.3110G>C (p.Arg1037Pro) rs748477865
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) rs147438385
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.313A>G (p.Lys105Glu) rs139730490
NM_030962.3(SBF2):c.3163A>G (p.Ile1055Val) rs142891020
NM_030962.3(SBF2):c.3169C>T (p.Arg1057Trp) rs536949808
NM_030962.3(SBF2):c.3170G>A (p.Arg1057Gln) rs138612196
NM_030962.3(SBF2):c.3203T>G (p.Ile1068Ser) rs765970008
NM_030962.3(SBF2):c.3229G>A (p.Gly1077Arg)
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3283A>G (p.Ser1095Gly) rs2942402
NM_030962.3(SBF2):c.3304G>A (p.Glu1102Lys) rs778262784
NM_030962.3(SBF2):c.3353A>T (p.Tyr1118Phe)
NM_030962.3(SBF2):c.3376A>T (p.Ile1126Leu) rs747669195
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154
NM_030962.3(SBF2):c.3436A>T (p.Met1146Leu) rs377277274
NM_030962.3(SBF2):c.3451C>T (p.Arg1151Trp) rs140550985
NM_030962.3(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.3(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523
NM_030962.3(SBF2):c.3479C>T (p.Pro1160Leu)
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470
NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln) rs376309876
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.3(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3812G>A (p.Arg1271His) rs201249004
NM_030962.3(SBF2):c.3823C>G (p.Arg1275Gly)
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3871G>C (p.Ala1291Pro)
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228
NM_030962.3(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.3(SBF2):c.38A>C (p.Tyr13Ser)
NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746
NM_030962.3(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.3(SBF2):c.3989T>C (p.Val1330Ala) rs147350002
NM_030962.3(SBF2):c.4038C>G (p.Ile1346Met) rs752638300
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn) rs144063037
NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) rs746286799
NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) rs771436343
NM_030962.3(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.3(SBF2):c.4204A>C (p.Asn1402His)
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.427G>A (p.Val143Met) rs142469360
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359
NM_030962.3(SBF2):c.4420C>G (p.Gln1474Glu)
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.4443+6T>C
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser)
NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.3(SBF2):c.446A>G (p.Asn149Ser)
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4523G>A (p.Arg1508His) rs770619905
NM_030962.3(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4853G>A (p.Arg1618Gln)
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=)
NM_030962.3(SBF2):c.4933-13_4933-9del rs767990042
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His) rs927212697
NM_030962.3(SBF2):c.4970C>T (p.Pro1657Leu)
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5016A>G (p.Lys1672=) rs1564852595
NM_030962.3(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5036G>A (p.Arg1679His)
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5102G>A (p.Arg1701Lys) rs914679014
NM_030962.3(SBF2):c.513+4A>G rs1554990552
NM_030962.3(SBF2):c.5135G>T (p.Gly1712Val)
NM_030962.3(SBF2):c.5200A>C (p.Ser1734Arg)
NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.3(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.3(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315
NM_030962.3(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.3(SBF2):c.5324G>A (p.Arg1775His)
NM_030962.3(SBF2):c.5365A>G (p.Ile1789Val)
NM_030962.3(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.3(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5437A>G (p.Lys1813Glu)
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.5498A>G (p.Gln1833Arg)
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn) rs201738577
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser) rs150725040
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.3(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.3(SBF2):c.763A>G (p.Ile255Val)
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.783G>T (p.Gln261His) rs759932929
NM_030962.3(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.3(SBF2):c.832T>A (p.Ser278Thr) rs746749228
NM_030962.3(SBF2):c.869T>G (p.Val290Gly)
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.898A>G (p.Ile300Val) rs141669540
NM_030962.3(SBF2):c.925T>G (p.Ser309Ala) rs1300253311
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.975+8A>G
NM_139241.3(FGD4):c.1033A>G (p.Met345Val) rs1404084092
NM_139241.3(FGD4):c.1043del (p.Pro348fs)
NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln) rs1415031307
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) rs755934741
NM_139241.3(FGD4):c.1135T>G (p.Ser379Ala) rs1396328756
NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn) rs781528826
NM_139241.3(FGD4):c.1192-9A>G rs1555217855
NM_139241.3(FGD4):c.1192G>A (p.Glu398Lys)
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) rs750265200
NM_139241.3(FGD4):c.1246A>G (p.Ile416Val) rs1060501903
NM_139241.3(FGD4):c.1258T>A (p.Ser420Thr) rs759385629
NM_139241.3(FGD4):c.1327T>C (p.Tyr443His) rs1555217941
NM_139241.3(FGD4):c.1338+3G>A
NM_139241.3(FGD4):c.1348A>G (p.Met450Val) rs201186597
NM_139241.3(FGD4):c.1511+4A>G rs760192025
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) rs141237776
NM_139241.3(FGD4):c.1624T>A (p.Ser542Thr)
NM_139241.3(FGD4):c.1692G>A (p.Met564Ile)
NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala) rs144693221
NM_139241.3(FGD4):c.1711C>T (p.Pro571Ser)
NM_139241.3(FGD4):c.1712C>A (p.Pro571His) rs145071617
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.184C>T (p.Pro62Ser) rs1555209302
NM_139241.3(FGD4):c.1877A>T (p.Glu626Val) rs1484964809
NM_139241.3(FGD4):c.1929C>A (p.Asn643Lys) rs1555224749
NM_139241.3(FGD4):c.192A>G (p.Gln64=) rs771558628
NM_139241.3(FGD4):c.1934T>C (p.Val645Ala)
NM_139241.3(FGD4):c.1950T>G (p.Leu650=) rs1358873743
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.1991G>C (p.Cys664Ser) rs749404822
NM_139241.3(FGD4):c.2041del (p.Gln681fs) rs1060501904
NM_139241.3(FGD4):c.2095A>G (p.Met699Val)
NM_139241.3(FGD4):c.2101A>G (p.Arg701Gly) rs756201273
NM_139241.3(FGD4):c.2106C>T (p.Ser702=) rs777555137
NM_139241.3(FGD4):c.2179C>G (p.Leu727Val)
NM_139241.3(FGD4):c.2180T>A (p.Leu727Gln)
NM_139241.3(FGD4):c.2186A>G (p.Gln729Arg)
NM_139241.3(FGD4):c.2197A>G (p.Lys733Glu) rs746459196
NM_139241.3(FGD4):c.2199A>C (p.Lys733Asn) rs770729087
NM_139241.3(FGD4):c.308_322del (p.Glu103_Ala107del)
NM_139241.3(FGD4):c.329T>C (p.Leu110Pro) rs142609007
NM_139241.3(FGD4):c.374C>G (p.Thr125Arg) rs200732890
NM_139241.3(FGD4):c.381A>G (p.Ile127Met) rs774466701
NM_139241.3(FGD4):c.417T>A (p.Pro139=) rs1295234161
NM_139241.3(FGD4):c.437G>T (p.Ser146Ile) rs1208033042
NM_139241.3(FGD4):c.443A>T (p.Asp148Val) rs1565869688
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg) rs371407163
NM_139241.3(FGD4):c.539A>G (p.Glu180Gly) rs1452437045
NM_139241.3(FGD4):c.542G>A (p.Arg181Lys) rs750143546
NM_139241.3(FGD4):c.544G>A (p.Glu182Lys)
NM_139241.3(FGD4):c.569T>A (p.Leu190Gln) rs144980336
NM_139241.3(FGD4):c.58G>A (p.Val20Ile) rs755068251
NM_139241.3(FGD4):c.593A>G (p.Glu198Gly) rs1304257221
NM_139241.3(FGD4):c.597G>C (p.Met199Ile)
NM_139241.3(FGD4):c.667A>C (p.Asn223His) rs761788290
NM_139241.3(FGD4):c.671G>A (p.Arg224Gln)
NM_139241.3(FGD4):c.740C>T (p.Ala247Val) rs1295394925
NM_139241.3(FGD4):c.76C>T (p.Arg26Cys)
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.955C>T (p.Arg319Cys) rs1131691854
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.627del (p.Ala210fs)
NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) rs1555057316
NM_201278.3(MTMR2):c.244_245GT[2] (p.Val82_Cys83insTer) rs1358449243
NM_201278.3(MTMR2):c.537_539TGA[1] (p.Asp180del) rs878855016

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