ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4 by Invitae

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 792
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HGVS dbSNP
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000012.11:g.(?_32751411)_(32751540_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
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.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
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)
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
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.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)
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)
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.660C>A (p.Asn220Lys) rs143549909
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.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.950C>T (p.Ser317Leu)
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)
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)
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.1271+5A>G
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
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.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.1750+3A>G
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
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)
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)
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.2200G>A (p.Glu734Lys) rs372846619
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.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.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.2661dup (p.Gln888fs)
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.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)
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.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)
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.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr)
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
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)
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.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)
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
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)
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)
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.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.753_755TGA[1] (p.Asp252del) rs878855016
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys)
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.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr)
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.118-3C>G
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro)
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro)
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_020956.2(PRX):c.13A>G (p.Ser5Gly)
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.176T>C (p.Leu59Pro)
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile)
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
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.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe)
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met)
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)
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)
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
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.1483A>G (p.Thr495Ala) rs10077543
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.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
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)
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
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)
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.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His)
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser)
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)
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val)
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)
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)
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)
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.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.279+4A>G
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)
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)
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.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.3157C>T (p.Leu1053Phe)
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)
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.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
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.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.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3835C>T (p.Arg1279Trp)
NM_024577.3(SH3TC2):c.3836G>A (p.Arg1279Gln)
NM_024577.3(SH3TC2):c.3846_3848TGG[2] (p.Gly1285del) rs1554120043
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+3A>G
NM_024577.3(SH3TC2):c.425A>G (p.His142Arg)
NM_024577.3(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
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.536_538TCT[1] (p.Phe180del) rs763476083
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)
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)
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.713T>G (p.Leu238Arg)
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.79A>G (p.Thr27Ala) rs141649676
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.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)
NM_024577.3(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
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.1130T>C (p.Ile377Thr)
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
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.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)
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1395+8_1395+11delAGTA rs763174480
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.1414A>G (p.Met472Val)
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
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.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.2014A>G (p.Thr672Ala)
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)
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)
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)
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)
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.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)
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)
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.313A>G (p.Lys105Glu)
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)
NM_030962.3(SBF2):c.3229G>A (p.Gly1077Arg)
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.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln)
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
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)
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.3871G>C (p.Ala1291Pro)
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu)
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)
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)
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn)
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.427G>A (p.Val143Met) rs142469360
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+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.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg)
NM_030962.3(SBF2):c.4853G>A (p.Arg1618Gln)
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_4933-9delAATTT rs767990042
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His)
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.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5102G>A (p.Arg1701Lys)
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)
NM_030962.3(SBF2):c.5498A>G (p.Gln1833Arg)
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser)
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.763A>G (p.Ile255Val)
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.783G>T (p.Gln261His)
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.975+8A>G
NM_139241.3(FGD4):c.1033A>G (p.Met345Val) rs1404084092
NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln) rs1415031307
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr)
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.1198C>G (p.Leu400Val) rs750265200
NM_139241.3(FGD4):c.1233_1235AGA[3] (p.Glu414del) rs1264651352
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.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.1991G>C (p.Cys664Ser)
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)
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)
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)
NM_139241.3(FGD4):c.381A>G (p.Ile127Met) rs774466701
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)
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.955C>T (p.Arg319Cys) rs1131691854
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
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.1040G>A (p.Arg347Gln)
NM_181882.2(PRX):c.1091G>A (p.Arg364Gln)
NM_181882.2(PRX):c.1100C>A (p.Ala367Asp) rs143400291
NM_181882.2(PRX):c.1141A>C (p.Ser381Arg) rs1049349860
NM_181882.2(PRX):c.1144C>G (p.Pro382Ala)
NM_181882.2(PRX):c.1211G>A (p.Arg404Gln)
NM_181882.2(PRX):c.1222C>T (p.Pro408Ser) rs150244426
NM_181882.2(PRX):c.1255A>T (p.Thr419Ser)
NM_181882.2(PRX):c.1369G>C (p.Glu457Gln) rs142064826
NM_181882.2(PRX):c.1387G>T (p.Val463Phe)
NM_181882.2(PRX):c.1391G>A (p.Arg464Gln) rs553211374
NM_181882.2(PRX):c.1460C>T (p.Pro487Leu)
NM_181882.2(PRX):c.1483_1560del (p.469_494ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
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.1574T>C (p.Val525Ala) rs149715830
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.1658A>G (p.Glu553Gly) rs879254301
NM_181882.2(PRX):c.1666_1743del (p.Leu556_Lys581del)
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.1837G>A (p.Val613Met) rs773222045
NM_181882.2(PRX):c.1898A>T (p.Glu633Val)
NM_181882.2(PRX):c.1900_1914del (p.629_633MKLPE[1]) rs575492732
NM_181882.2(PRX):c.1906C>T (p.Leu636Phe)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.1965G>A (p.Pro655=)
NM_181882.2(PRX):c.1979C>T (p.Pro660Leu) rs748737580
NM_181882.2(PRX):c.1999C>G (p.Leu667Val)
NM_181882.2(PRX):c.2033T>C (p.Val678Ala) rs1568706919
NM_181882.2(PRX):c.2036G>A (p.Arg679Gln) rs145856805
NM_181882.2(PRX):c.2056C>A (p.Pro686Thr)
NM_181882.2(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.2(PRX):c.2134C>T (p.Pro712Ser)
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.2243C>T (p.Pro748Leu)
NM_181882.2(PRX):c.2282C>T (p.Pro761Leu) rs530370432
NM_181882.2(PRX):c.2285A>G (p.Lys762Arg)
NM_181882.2(PRX):c.2293G>A (p.Asp765Asn)
NM_181882.2(PRX):c.2293G>T (p.Asp765Tyr)
NM_181882.2(PRX):c.2311G>C (p.Ala771Pro) rs1568706134
NM_181882.2(PRX):c.2353A>G (p.Lys785Glu)
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.2494G>C (p.Val832Leu) rs116139153
NM_181882.2(PRX):c.2534C>T (p.Ala845Val)
NM_181882.2(PRX):c.2548C>G (p.Pro850Ala) rs141686828
NM_181882.2(PRX):c.2573A>G (p.Glu858Gly)
NM_181882.2(PRX):c.2605G>A (p.Gly869Arg) rs1555800819
NM_181882.2(PRX):c.2620G>A (p.Ala874Thr) rs145790961
NM_181882.2(PRX):c.2641C>T (p.Arg881Trp) rs375201649
NM_181882.2(PRX):c.2651G>A (p.Gly884Asp) rs139005780
NM_181882.2(PRX):c.2677G>A (p.Glu893Lys) rs201270794
NM_181882.2(PRX):c.2690G>A (p.Arg897Gln) rs752531623
NM_181882.2(PRX):c.2728G>A (p.Ala910Thr) rs145203783
NM_181882.2(PRX):c.2731G>A (p.Val911Met)
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.2854G>C (p.Gly952Arg) rs1060502972
NM_181882.2(PRX):c.2876T>C (p.Val959Ala) rs1568704784
NM_181882.2(PRX):c.2909G>A (p.Arg970Gln)
NM_181882.2(PRX):c.2921_2941del (p.Glu974_Ala980del)
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.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.3186G>T (p.Lys1062Asn) rs139188673
NM_181882.2(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.2(PRX):c.3209G>A (p.Arg1070Gln) rs146222815
NM_181882.2(PRX):c.3238C>T (p.Arg1080Cys)
NM_181882.2(PRX):c.3271G>A (p.Ala1091Thr) rs368459753
NM_181882.2(PRX):c.3352G>A (p.Val1118Ile)
NM_181882.2(PRX):c.3352G>T (p.Val1118Phe) rs143654708
NM_181882.2(PRX):c.3376C>A (p.Leu1126Met) rs1483705612
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.3496C>T (p.Pro1166Ser) rs147826200
NM_181882.2(PRX):c.3508G>A (p.Ala1170Thr)
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.3707C>T (p.Ala1236Val)
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.3802G>A (p.Ala1268Thr) rs146061247
NM_181882.2(PRX):c.3835G>C (p.Val1279Leu) rs747247972
NM_181882.2(PRX):c.3845C>T (p.Ser1282Leu) rs753530396
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.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.4004G>A (p.Arg1335Gln)
NM_181882.2(PRX):c.4017C>A (p.Ser1339Arg)
NM_181882.2(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.2(PRX):c.4108C>A (p.Arg1370Ser)
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.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.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.4307G>A (p.Arg1436Gln) rs368827070
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.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.478_492del (p.Phe160_Ser164del) rs1555801508
NM_181882.2(PRX):c.485A>C (p.Lys162Thr) rs879254072
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.559C>T (p.Arg187Cys)
NM_181882.2(PRX):c.587G>C (p.Arg196Pro)
NM_181882.2(PRX):c.615_616delinsTT (p.Arg206Trp) rs1568709522
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.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.718C>T (p.Arg240Trp) rs199863083
NM_181882.2(PRX):c.730G>A (p.Ala244Thr)
NM_181882.2(PRX):c.740G>A (p.Gly247Asp) rs1568709200
NM_181882.2(PRX):c.815C>T (p.Thr272Ile)
NM_181882.2(PRX):c.823C>A (p.Leu275Ile) rs200033507
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.922A>G (p.Thr308Ala) rs753330520
NM_181882.2(PRX):c.946G>C (p.Glu316Gln) rs1555801306
NM_181882.2(PRX):c.992C>T (p.Pro331Leu)
NM_181882.2(PRX):c.994A>G (p.Thr332Ala) rs143710873

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