ClinVar Miner

List of variants reported as uncertain significance for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1502
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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_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.123_125del (p.Val42del)
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_001135242.2(NDRG1):c.64-20dup rs756038946
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*43C>T
NM_001136473.1(LITAF):c.*49G>A
NM_001136473.1(LITAF):c.*51G>A
NM_001136473.1(LITAF):c.*57G>A
NM_001136473.1(LITAF):c.*63C>T
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.17-3C>T
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001304480.1(FGD4):c.193A>T (p.Ile65Leu) rs886049253
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_006096.3(NDRG1):c.*1195G>T rs561506934
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*1296C>T rs886062711
NM_006096.3(NDRG1):c.*1340G>A rs12668
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1706G>A rs781277187
NM_006096.3(NDRG1):c.*184G>A rs778104868
NM_006096.3(NDRG1):c.*201A>T rs886062715
NM_006096.3(NDRG1):c.*306C>T rs886062714
NM_006096.3(NDRG1):c.*402C>T rs551081194
NM_006096.3(NDRG1):c.*618T>G rs886062713
NM_006096.3(NDRG1):c.*677C>T rs886062712
NM_006096.3(NDRG1):c.-123T>G rs886062718
NM_006096.3(NDRG1):c.-128C>T rs886062719
NM_006096.3(NDRG1):c.-157C>T rs545130040
NM_006096.3(NDRG1):c.-173G>A rs886062720
NM_006096.3(NDRG1):c.-19+14C>G rs886062716
NM_006096.3(NDRG1):c.-64G>A rs886062717
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.196G>A (p.Gly66Ser) rs780329667
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.307G>C (p.Ala103Pro) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
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.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
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.855+14_855+15del rs780070007
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_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) rs1563343679
NM_014845.5(FIG4):c.*150_*151del rs886060986
NM_014845.5(FIG4):c.-112G>A rs757848529
NM_014845.5(FIG4):c.-124A>G rs544958043
NM_014845.5(FIG4):c.-132A>G rs548471516
NM_014845.5(FIG4):c.-134C>G rs560811735
NM_014845.5(FIG4):c.-138T>C rs550585093
NM_014845.5(FIG4):c.-84A>G rs764845399
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.1272-10C>G rs201293291
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.1793T>A (p.Phe598Tyr) rs751399063
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
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.2096G>A (p.Arg699His) rs750091928
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.235G>A (p.Gly79Arg) rs886060982
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2459+5G>A
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-11A>G rs745613994
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-4A>G rs886060985
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
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_014874.3(MFN2):c.*1068C>T rs886045229
NM_014874.3(MFN2):c.*1153C>T rs542684406
NM_014874.3(MFN2):c.*121A>G rs886045222
NM_014874.3(MFN2):c.*1276G>A rs766342161
NM_014874.3(MFN2):c.*1295G>A rs763783578
NM_014874.3(MFN2):c.*1392A>G rs886045230
NM_014874.3(MFN2):c.*1539G>A rs557643473
NM_014874.3(MFN2):c.*1640del rs35943162
NM_014874.3(MFN2):c.*1640dup rs35943162
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*1794_*1796del rs540280019
NM_014874.3(MFN2):c.*1800_*1802delGTT rs140537612
NM_014874.3(MFN2):c.*256G>A rs557772799
NM_014874.3(MFN2):c.*297T>A rs886045224
NM_014874.3(MFN2):c.*36G>A rs377468070
NM_014874.3(MFN2):c.*413C>T rs558887681
NM_014874.3(MFN2):c.*57C>T rs886045221
NM_014874.3(MFN2):c.*610del rs747291228
NM_014874.3(MFN2):c.*864T>C rs886045226
NM_014874.3(MFN2):c.*870C>T rs886045227
NM_014874.3(MFN2):c.*935G>T rs886045228
NM_014874.3(MFN2):c.*946C>A rs765105334
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-328T>A rs886045217
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.3(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1343_*1344del rs886048765
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*1888del rs775823662
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*2357T>C rs886048762
NM_016156.5(MTMR2):c.*347_*348delCT rs762396029
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
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.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
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.1450A>G (p.Ile484Val) rs886048771
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
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.1551C>T (p.Phe517=) rs775961979
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.184_186del (p.Arg62del) rs141498429
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.1862G>A (p.Arg621Gln) rs371925152
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.212C>T (p.Ala71Val) rs886048772
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.570+11T>C rs182582445
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.655-8A>G rs768562214
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.*1028C>A rs200033507
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*3126_*3146del
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.-114T>G rs367716653
NM_020956.2(PRX):c.-143G>A rs559995627
NM_020956.2(PRX):c.-160C>T rs763423646
NM_020956.2(PRX):c.-198-14C>T rs886054442
NM_020956.2(PRX):c.-199+7G>C rs541213273
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.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.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
NM_020956.2(PRX):c.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.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_024577.3(SH3TC2):c.*10006A>T rs201998002
NM_024577.3(SH3TC2):c.*10010A>T rs886060145
NM_024577.3(SH3TC2):c.*10018A>T rs866934630
NM_024577.3(SH3TC2):c.*10022A>T rs56245745
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[13] rs57301725
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[14] rs57301725
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[16] rs57301725
NM_024577.3(SH3TC2):c.*10052C>T rs113802539
NM_024577.3(SH3TC2):c.*10060C>A rs886060143
NM_024577.3(SH3TC2):c.*1006C>T rs886060185
NM_024577.3(SH3TC2):c.*10079A>G rs886060142
NM_024577.3(SH3TC2):c.*10083A>G rs886060141
NM_024577.3(SH3TC2):c.*10099A>T rs570266229
NM_024577.3(SH3TC2):c.*10101C>T rs552099019
NM_024577.3(SH3TC2):c.*10103A>T rs754724940
NM_024577.3(SH3TC2):c.*10105C>T rs753563756
NM_024577.3(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.3(SH3TC2):c.*10120C>A rs13355933
NM_024577.3(SH3TC2):c.*10132A>G rs886060138
NM_024577.3(SH3TC2):c.*10177T>A rs149759395
NM_024577.3(SH3TC2):c.*10505A>G rs886060137
NM_024577.3(SH3TC2):c.*10546C>T rs186003687
NM_024577.3(SH3TC2):c.*10573T>C rs886060136
NM_024577.3(SH3TC2):c.*10756G>T rs886060135
NM_024577.3(SH3TC2):c.*10767G>A rs139720866
NM_024577.3(SH3TC2):c.*10863C>T rs181346624
NM_024577.3(SH3TC2):c.*10864G>A rs189701174
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*10984G>T rs868782614
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*11054G>C rs886060134
NM_024577.3(SH3TC2):c.*11055T>C rs886060133
NM_024577.3(SH3TC2):c.*11160C>T rs886060132
NM_024577.3(SH3TC2):c.*11506C>T rs886060131
NM_024577.3(SH3TC2):c.*11542G>A rs886060130
NM_024577.3(SH3TC2):c.*11593G>A rs886060129
NM_024577.3(SH3TC2):c.*11621G>A rs886060128
NM_024577.3(SH3TC2):c.*12088_*12091del rs886060127
NM_024577.3(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.3(SH3TC2):c.*12114dup rs886060125
NM_024577.3(SH3TC2):c.*12126C>T rs886060124
NM_024577.3(SH3TC2):c.*12146C>G rs886060123
NM_024577.3(SH3TC2):c.*122G>T rs114151926
NM_024577.3(SH3TC2):c.*12469T>A rs886060122
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*1254T>C rs752672326
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12653C>A rs886060121
NM_024577.3(SH3TC2):c.*12752T>A rs886060120
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*12969C>A rs76955068
NM_024577.3(SH3TC2):c.*1310G>A rs886060184
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13293T>C rs886060119
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*13465C>A rs186009343
NM_024577.3(SH3TC2):c.*13514A>G rs78516040
NM_024577.3(SH3TC2):c.*13598A>G rs141011337
NM_024577.3(SH3TC2):c.*13923T>C rs534282709
NM_024577.3(SH3TC2):c.*14411G>A rs143623684
NM_024577.3(SH3TC2):c.*14429T>G rs577465518
NM_024577.3(SH3TC2):c.*14628C>T rs886060118
NM_024577.3(SH3TC2):c.*14781C>A rs886060117
NM_024577.3(SH3TC2):c.*147A>T rs147796833
NM_024577.3(SH3TC2):c.*14827T>A rs569378409
NM_024577.3(SH3TC2):c.*14894G>A rs17109192
NM_024577.3(SH3TC2):c.*14985A>G rs886060116
NM_024577.3(SH3TC2):c.*15061C>T rs115722370
NM_024577.3(SH3TC2):c.*15062G>A rs886060115
NM_024577.3(SH3TC2):c.*15125C>G rs181229340
NM_024577.3(SH3TC2):c.*15235A>G rs145210501
NM_024577.3(SH3TC2):c.*15311del rs886060114
NM_024577.3(SH3TC2):c.*15339G>A rs886060113
NM_024577.3(SH3TC2):c.*15383C>A rs186004627
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*15680T>C rs886060112
NM_024577.3(SH3TC2):c.*15823T>A rs4562031
NM_024577.3(SH3TC2):c.*15824G>A rs530880070
NM_024577.3(SH3TC2):c.*16056C>T rs147906062
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16257T>C rs572081330
NM_024577.3(SH3TC2):c.*16261C>T rs150690882
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*16507C>T rs886060111
NM_024577.3(SH3TC2):c.*16509A>G rs886060110
NM_024577.3(SH3TC2):c.*16562G>T rs369963209
NM_024577.3(SH3TC2):c.*16711C>G rs886060109
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16855A>G rs886060108
NM_024577.3(SH3TC2):c.*16856_*16857CA[21] rs71957589
NM_024577.3(SH3TC2):c.*16856_*16857CA[22] rs71957589
NM_024577.3(SH3TC2):c.*16856_*16857CA[24] rs71957589
NM_024577.3(SH3TC2):c.*16856_*16857CA[26] rs71957589
NM_024577.3(SH3TC2):c.*16902G>A rs886060107
NM_024577.3(SH3TC2):c.*16905T>G rs886060105
NM_024577.3(SH3TC2):c.*16928A>G rs760134609
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*17036C>T rs75086059
NM_024577.3(SH3TC2):c.*17192C>T rs886060104
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*17662T>C rs556308084
NM_024577.3(SH3TC2):c.*17833T>G rs886060103
NM_024577.3(SH3TC2):c.*18234G>A rs886060102
NM_024577.3(SH3TC2):c.*18299C>T rs147903089
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18483dup rs536826583
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*18635C>T rs886060101
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*19182A>C rs886060100
NM_024577.3(SH3TC2):c.*19250T>A rs886060099
NM_024577.3(SH3TC2):c.*19270G>A rs149188140
NM_024577.3(SH3TC2):c.*19342A>G rs886060098
NM_024577.3(SH3TC2):c.*19406A>G rs72835351
NM_024577.3(SH3TC2):c.*19406A>T rs72835351
NM_024577.3(SH3TC2):c.*19411T>C rs780022559
NM_024577.3(SH3TC2):c.*1942del rs886060183
NM_024577.3(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.3(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.3(SH3TC2):c.*1979C>T rs886060181
NM_024577.3(SH3TC2):c.*1982C>A rs535127091
NM_024577.3(SH3TC2):c.*19989G>A rs560779315
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20362T>C rs571268825
NM_024577.3(SH3TC2):c.*20412A>T rs774453230
NM_024577.3(SH3TC2):c.*20469C>T rs886060097
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*20773G>T rs113020040
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.3(SH3TC2):c.*210C>A rs886060192
NM_024577.3(SH3TC2):c.*21118G>T rs886060095
NM_024577.3(SH3TC2):c.*21395T>C rs886060094
NM_024577.3(SH3TC2):c.*2141C>T rs535223944
NM_024577.3(SH3TC2):c.*21532C>A rs763141563
NM_024577.3(SH3TC2):c.*21539T>C rs542529184
NM_024577.3(SH3TC2):c.*21658A>G rs145964634
NM_024577.3(SH3TC2):c.*21703G>A rs761390238
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*21955A>G rs575501943
NM_024577.3(SH3TC2):c.*22034C>T rs886060093
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22168C>G rs886060092
NM_024577.3(SH3TC2):c.*22199C>T rs778637809
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22291T>C rs886060091
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*2248A>G rs187399485
NM_024577.3(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.3(SH3TC2):c.*22553del rs55932017
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2361A>T rs146327509
NM_024577.3(SH3TC2):c.*2394C>T rs368101139
NM_024577.3(SH3TC2):c.*2500C>A rs559833500
NM_024577.3(SH3TC2):c.*2624A>G rs762855152
NM_024577.3(SH3TC2):c.*281A>G rs886060191
NM_024577.3(SH3TC2):c.*2862G>A rs116548620
NM_024577.3(SH3TC2):c.*2982T>C rs886060180
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3058A>G rs563916447
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*3165G>A rs886060179
NM_024577.3(SH3TC2):c.*3202T>C rs188625202
NM_024577.3(SH3TC2):c.*3411C>T rs886060178
NM_024577.3(SH3TC2):c.*341A>G rs868833114
NM_024577.3(SH3TC2):c.*3430T>A rs184043381
NM_024577.3(SH3TC2):c.*3694T>A rs115774169
NM_024577.3(SH3TC2):c.*3903A>G rs750071171
NM_024577.3(SH3TC2):c.*391G>C rs117139060
NM_024577.3(SH3TC2):c.*4131T>C rs141113906
NM_024577.3(SH3TC2):c.*4182A>G rs886060177
NM_024577.3(SH3TC2):c.*4183T>C rs886060176
NM_024577.3(SH3TC2):c.*4209A>G rs886060175
NM_024577.3(SH3TC2):c.*4232G>A rs886060174
NM_024577.3(SH3TC2):c.*4240C>A rs765837919
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4409T>A rs886060173
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4511T>C rs578024597
NM_024577.3(SH3TC2):c.*4555A>G rs117287440
NM_024577.3(SH3TC2):c.*4604G>A rs886060172
NM_024577.3(SH3TC2):c.*4691C>T rs574710725
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*47C>T rs79738100
NM_024577.3(SH3TC2):c.*4920T>G rs550230926
NM_024577.3(SH3TC2):c.*4935A>T rs149921013
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*5279del rs573168274
NM_024577.3(SH3TC2):c.*5304G>A rs886060171
NM_024577.3(SH3TC2):c.*5305C>A rs886060170
NM_024577.3(SH3TC2):c.*5368C>T rs189202481
NM_024577.3(SH3TC2):c.*5419G>A rs886060169
NM_024577.3(SH3TC2):c.*5576C>T rs886060168
NM_024577.3(SH3TC2):c.*5634C>A rs565468168
NM_024577.3(SH3TC2):c.*5666A>G rs749263197
NM_024577.3(SH3TC2):c.*5689A>C rs537285537
NM_024577.3(SH3TC2):c.*5740C>T rs886060167
NM_024577.3(SH3TC2):c.*5747C>T rs886060166
NM_024577.3(SH3TC2):c.*578C>T rs567100275
NM_024577.3(SH3TC2):c.*5933G>A rs886060165
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6051G>A rs146293131
NM_024577.3(SH3TC2):c.*6104C>T rs556527140
NM_024577.3(SH3TC2):c.*623T>C rs886060190
NM_024577.3(SH3TC2):c.*6242A>G rs142279453
NM_024577.3(SH3TC2):c.*626G>A rs781581124
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6392C>A rs114817736
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6510G>A rs116056843
NM_024577.3(SH3TC2):c.*6557T>C rs199797914
NM_024577.3(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.3(SH3TC2):c.*6623G>A rs78100143
NM_024577.3(SH3TC2):c.*6682G>C rs557452648
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6836T>C rs757138006
NM_024577.3(SH3TC2):c.*6870_*6872ACA[1] rs567997802
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*7006T>C rs187720692
NM_024577.3(SH3TC2):c.*7016_*7020ATATT[1] rs886060164
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7189C>G rs886060163
NM_024577.3(SH3TC2):c.*7197G>C rs886060162
NM_024577.3(SH3TC2):c.*7256A>C rs886060161
NM_024577.3(SH3TC2):c.*7269A>G rs763490898
NM_024577.3(SH3TC2):c.*7285G>C rs886060160
NM_024577.3(SH3TC2):c.*7291G>A rs748202204
NM_024577.3(SH3TC2):c.*7391A>C rs886060159
NM_024577.3(SH3TC2):c.*7394A>G rs886060158
NM_024577.3(SH3TC2):c.*7452G>A rs761137746
NM_024577.3(SH3TC2):c.*7570G>A rs886060157
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8053G>A rs115027318
NM_024577.3(SH3TC2):c.*8077A>G rs886060156
NM_024577.3(SH3TC2):c.*8111A>C rs17109205
NM_024577.3(SH3TC2):c.*8216T>C rs886060155
NM_024577.3(SH3TC2):c.*8217A>G rs768467653
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*8283A>T rs780934660
NM_024577.3(SH3TC2):c.*8313G>A rs770951592
NM_024577.3(SH3TC2):c.*8364C>T rs886060154
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*839del rs886060189
NM_024577.3(SH3TC2):c.*8423T>C rs10036103
NM_024577.3(SH3TC2):c.*8424_*8425CT[7] rs146811206
NM_024577.3(SH3TC2):c.*8424_*8425CT[9] rs146811206
NM_024577.3(SH3TC2):c.*8521C>A rs886060152
NM_024577.3(SH3TC2):c.*8567G>A rs369239776
NM_024577.3(SH3TC2):c.*862del rs886060188
NM_024577.3(SH3TC2):c.*862dup rs886060187
NM_024577.3(SH3TC2):c.*86C>T rs886060194
NM_024577.3(SH3TC2):c.*8748G>A rs190904760
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.*8878T>A rs886060151
NM_024577.3(SH3TC2):c.*9073G>C rs886060150
NM_024577.3(SH3TC2):c.*9121del rs886060149
NM_024577.3(SH3TC2):c.*9233T>A rs886060148
NM_024577.3(SH3TC2):c.*932T>A rs886060186
NM_024577.3(SH3TC2):c.*9340G>C rs886060147
NM_024577.3(SH3TC2):c.*9357T>G rs147996031
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9503C>T rs533786708
NM_024577.3(SH3TC2):c.*9830C>T rs557247993
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.*9969T>C rs761191045
NM_024577.3(SH3TC2):c.*9969_*9972del rs113518050
NM_024577.3(SH3TC2):c.*9972T>C rs778531473
NM_024577.3(SH3TC2):c.*9974_*9977ATCC[11] rs201323132
NM_024577.3(SH3TC2):c.*9974_*9977ATCC[14] rs201323132
NM_024577.3(SH3TC2):c.*9980_*9981insTATT rs1554119372
NM_024577.3(SH3TC2):c.*99G>A rs886060193
NM_024577.3(SH3TC2):c.-92C>T rs886060200
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.1105C>T (p.Arg369Cys) rs569974719
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.1233_1235dup (p.His411dup) rs886060198
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met)
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) rs748870159
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.1830G>A (p.Lys610=) rs370025626
NM_024577.3(SH3TC2):c.1831C>A (p.His611Asn) rs886060197
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1843G>A (p.Val615Met)
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His)
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
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.2094C>T (p.Ile698=) rs886060196
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.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
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.255C>T (p.Asp85=) rs886060199
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.2657G>A (p.Ser886Asn) rs780085307
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.279+4A>G
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.3(SH3TC2):c.289G>A (p.Ala97Thr)
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
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.3049G>A (p.Ala1017Thr) rs186029710
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.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.32G>A (p.Arg11Gln)
NM_024577.3(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
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.3433G>T (p.Ala1145Ser) rs141715248
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.3600G>A (p.Leu1200=) rs886060195
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.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
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.390C>T (p.Tyr130=) rs776623792
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.529+7G>A rs747615694
NM_024577.3(SH3TC2):c.536_538TCT[1] (p.Phe180del) rs763476083
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
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.645C>T (p.Ser215=) rs80227512
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.*112G>A rs144513995
NM_030962.3(SBF2):c.*1255G>A rs886048774
NM_030962.3(SBF2):c.*1439C>A rs531522907
NM_030962.3(SBF2):c.*1441C>T rs562275980
NM_030962.3(SBF2):c.*1686G>A rs376521838
NM_030962.3(SBF2):c.*19G>A rs770446132
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*375G>A rs533676532
NM_030962.3(SBF2):c.*375G>C rs533676532
NM_030962.3(SBF2):c.*480G>A rs148002177
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.*631T>C rs573284772
NM_030962.3(SBF2):c.*730G>A rs886048777
NM_030962.3(SBF2):c.*875G>A rs886048776
NM_030962.3(SBF2):c.*882T>C rs886048775
NM_030962.3(SBF2):c.-101A>C rs886047577
NM_030962.3(SBF2):c.-106C>T rs886047578
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.-128C>T rs886047579
NM_030962.3(SBF2):c.-37G>T rs756232914
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
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.1173A>G (p.Ala391=) rs79470805
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+11del 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.1509A>G (p.Glu503=) rs143773975
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.1601-4C>G rs886048784
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.1799G>A (p.Arg600Gln) rs185968327
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.1971A>G (p.Val657=) rs368639697
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.2100+7G>A rs370918433
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.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2329T>G (p.Trp777Gly) rs1321841784
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
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.2397A>G (p.Thr799=) rs759550730
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) rs886047576
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.2537-5C>T rs886048783
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.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2600C>T (p.Pro867Leu) rs370198639
NM_030962.3(SBF2):c.2669G>A (p.Arg890Gln) rs755699993
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.2870C>A (p.Thr957Lys) rs886048782
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.3016C>T (p.Pro1006Ser) rs886048781
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.3257-5C>G rs886048780
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.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3812G>A (p.Arg1271His)
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
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.3935G>A (p.Arg1312Gln)
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.4096C>T (p.Pro1366Ser) rs115927577
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.4733A>G (p.Lys1578Arg) rs775360425
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.4931G>A (p.Ser1644Asn) rs754078134
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)
NM_030962.3(SBF2):c.4970C>T (p.Pro1657Leu)
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) rs150598413
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.5041C>T (p.Gln1681Ter) rs1343702415
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
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.514-12C>T rs770141264
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.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5232-7C>A rs752774091
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.5296G>A (p.Val1766Ile) rs886048779
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.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser)
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
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.777G>A (p.Pro259=) rs142261202
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.942A>G (p.Pro314=) rs753903194
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.975+8A>G
NM_033500.2(HK1):c.-138G>A
NM_139241.3(FGD4):c.*1006C>T rs886049260
NM_139241.3(FGD4):c.*1068A>G rs537833755
NM_139241.3(FGD4):c.*1160G>A rs540745195
NM_139241.3(FGD4):c.*1274G>A rs570269532
NM_139241.3(FGD4):c.*1354A>G rs886049261
NM_139241.3(FGD4):c.*1356T>G rs886049262
NM_139241.3(FGD4):c.*1485T>C rs55970127
NM_139241.3(FGD4):c.*1704C>G rs886049263
NM_139241.3(FGD4):c.*1781G>A rs886049264
NM_139241.3(FGD4):c.*1866T>G rs886049265
NM_139241.3(FGD4):c.*1908G>C rs886049266
NM_139241.3(FGD4):c.*2026A>G rs765502938
NM_139241.3(FGD4):c.*2103A>G rs55963204
NM_139241.3(FGD4):c.*2203T>C rs41276678
NM_139241.3(FGD4):c.*2374G>T rs753715337
NM_139241.3(FGD4):c.*2462C>A rs575272682
NM_139241.3(FGD4):c.*2638A>G rs193167910
NM_139241.3(FGD4):c.*2813C>T rs148195158
NM_139241.3(FGD4):c.*290G>A rs79732949
NM_139241.3(FGD4):c.*3037C>A rs886049267
NM_139241.3(FGD4):c.*3044T>C rs747748956
NM_139241.3(FGD4):c.*3113_*3114TA[4] rs57627640
NM_139241.3(FGD4):c.*3113_*3114TA[6] rs57627640
NM_139241.3(FGD4):c.*3150A>G rs542871416
NM_139241.3(FGD4):c.*3340A>C rs75320947
NM_139241.3(FGD4):c.*3367G>T rs188648275
NM_139241.3(FGD4):c.*3438C>T rs886049269
NM_139241.3(FGD4):c.*3482G>T rs886049270
NM_139241.3(FGD4):c.*3676A>G rs189489067
NM_139241.3(FGD4):c.*3814A>G rs886049271
NM_139241.3(FGD4):c.*3894_*3895del rs780175220
NM_139241.3(FGD4):c.*3905A>G rs886049273
NM_139241.3(FGD4):c.*411A>G rs886049256
NM_139241.3(FGD4):c.*4268A>G rs542163387
NM_139241.3(FGD4):c.*4454G>A rs147515673
NM_139241.3(FGD4):c.*4497G>A rs367545740
NM_139241.3(FGD4):c.*4756A>G rs763037960
NM_139241.3(FGD4):c.*4772dup rs567814235
NM_139241.3(FGD4):c.*4831C>T rs145433607
NM_139241.3(FGD4):c.*4862C>A rs886049275
NM_139241.3(FGD4):c.*4925A>T rs886049276
NM_139241.3(FGD4):c.*4977G>C rs575914495
NM_139241.3(FGD4):c.*497T>C rs886049257
NM_139241.3(FGD4):c.*5020G>C rs886049277
NM_139241.3(FGD4):c.*5072A>G rs886049278
NM_139241.3(FGD4):c.*5152C>T rs886049279
NM_139241.3(FGD4):c.*5177G>A rs777896036
NM_139241.3(FGD4):c.*5223G>A rs886049280
NM_139241.3(FGD4):c.*5244G>A rs186014657
NM_139241.3(FGD4):c.*5309C>T rs556209722
NM_139241.3(FGD4):c.*5329G>C rs886049281
NM_139241.3(FGD4):c.*5484T>C rs577630567
NM_139241.3(FGD4):c.*734G>A rs886049258
NM_139241.3(FGD4):c.*762G>T rs886049259
NM_139241.3(FGD4):c.*795G>A rs112398567
NM_139241.3(FGD4):c.-246+9C>T rs531501340
NM_139241.3(FGD4):c.-289A>G rs56168193
NM_139241.3(FGD4):c.-370G>A rs184708096
NM_139241.3(FGD4):c.-421A>C rs192626243
NM_139241.3(FGD4):c.-447T>C rs886049252
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.1132+13T>C rs762177862
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.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1511+4A>G rs760192025
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) rs141237776
NM_139241.3(FGD4):c.1624T>A (p.Ser542Thr)
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1692G>A (p.Met564Ile)
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
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.1814G>A (p.Gly605Asp) rs886049255
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.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.308_322del (p.Glu103_Ala107del)
NM_139241.3(FGD4):c.310G>A (p.Glu104Lys) rs752621629
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.398A>G (p.Asp133Gly) rs759415605
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
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.569T>C (p.Leu190Pro) 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.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.740C>T (p.Ala247Val) rs1295394925
NM_139241.3(FGD4):c.76C>T (p.Arg26Cys)
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
NM_139241.3(FGD4):c.955C>T (p.Arg319Cys) rs1131691854
NM_139241.3(FGD4):c.956G>A (p.Arg319His)
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
NM_139241.3(FGD4):c.993+4A>T rs767855809
NM_139241.3(FGD4):c.994-4A>G rs886049254
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
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.1087C>G (p.Pro363Ala) rs886054439
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.1174C>T (p.Arg392Ter) rs773009397
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.1281C>T (p.Ile427=) rs76960467
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.1500A>G (p.Ser500=) rs777104457
NM_181882.2(PRX):c.1510C>T (p.Leu504Phe) rs192607896
NM_181882.2(PRX):c.1538C>T (p.Pro513Leu)
NM_181882.2(PRX):c.1546C>T (p.Arg516Trp) rs144305922
NM_181882.2(PRX):c.1568T>C (p.Leu523Pro) rs550446238
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.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.1651G>A (p.Val551Met) rs61733448
NM_181882.2(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.2(PRX):c.1714G>A (p.Val572Met) rs370979792
NM_181882.2(PRX):c.1718A>G (p.Gln573Arg) rs1289149165
NM_181882.2(PRX):c.1790A>G (p.Glu597Gly)
NM_181882.2(PRX):c.1813C>T (p.Leu605Phe) rs1555801070
NM_181882.2(PRX):c.1828G>A (p.Glu610Lys) rs537664679
NM_181882.2(PRX):c.1836C>T (p.Ala612=) rs574899855
NM_181882.2(PRX):c.1837G>A (p.Val613Met) rs773222045
NM_181882.2(PRX):c.1891C>G (p.Leu631Val) rs886054438
NM_181882.2(PRX):c.1898A>T (p.Glu633Val)
NM_181882.2(PRX):c.1906C>T (p.Leu636Phe)
NM_181882.2(PRX):c.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.2035C>T (p.Arg679Ter)
NM_181882.2(PRX):c.2036G>A (p.Arg679Gln) rs145856805
NM_181882.2(PRX):c.2056C>A (p.Pro686Thr)
NM_181882.2(PRX):c.2071A>C (p.Met691Leu) rs886054437
NM_181882.2(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.2(PRX):c.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.2292C>G (p.Pro764=) rs142637195
NM_181882.2(PRX):c.2293G>A (p.Asp765Asn)
NM_181882.2(PRX):c.2293G>T (p.Asp765Tyr)
NM_181882.2(PRX):c.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.2536C>T (p.His846Tyr) rs765595266
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.2746G>C (p.Gly916Arg) rs775152960
NM_181882.2(PRX):c.2775C>T (p.Val925=) rs201792838
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.2933A>G (p.Lys978Arg) rs767386430
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.3220G>A (p.Ala1074Thr) rs886054436
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.3508G>A (p.Ala1170Thr)
NM_181882.2(PRX):c.3549C>T (p.Tyr1183=) rs367876251
NM_181882.2(PRX):c.3562C>A (p.Pro1188Thr)
NM_181882.2(PRX):c.3562C>T (p.Pro1188Ser) rs878855284
NM_181882.2(PRX):c.3580C>G (p.Leu1194Val) rs149732789
NM_181882.2(PRX):c.3583C>T (p.Pro1195Ser) rs1555800544
NM_181882.2(PRX):c.3656C>T (p.Pro1219Leu) rs201393544
NM_181882.2(PRX):c.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.3799G>A (p.Gly1267Arg) rs542711361
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.3846G>A (p.Ser1282=) rs143289108
NM_181882.2(PRX):c.3849A>G (p.Pro1283=) rs757247849
NM_181882.2(PRX):c.3853G>A (p.Gly1285Arg) rs374370759
NM_181882.2(PRX):c.3863A>T (p.His1288Leu) rs1568702462
NM_181882.2(PRX):c.3868G>A (p.Glu1290Lys) rs773955274
NM_181882.2(PRX):c.3868G>T (p.Glu1290Ter)
NM_181882.2(PRX):c.3886G>C (p.Gly1296Arg)
NM_181882.2(PRX):c.3919C>T (p.Arg1307Trp)
NM_181882.2(PRX):c.3935G>T (p.Gly1312Val)
NM_181882.2(PRX):c.3947C>T (p.Ala1316Val) rs142762689
NM_181882.2(PRX):c.4004G>A (p.Arg1335Gln)
NM_181882.2(PRX):c.4017C>A (p.Ser1339Arg)
NM_181882.2(PRX):c.4044G>C (p.Gly1348=) rs76088917
NM_181882.2(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.2(PRX):c.4108C>A (p.Arg1370Ser)
NM_181882.2(PRX):c.4109G>A (p.Arg1370His) rs756687548
NM_181882.2(PRX):c.4111C>T (p.Arg1371Trp) rs753339248
NM_181882.2(PRX):c.4112G>A (p.Arg1371Gln) rs377009047
NM_181882.2(PRX):c.4115G>T (p.Gly1372Val) rs751906783
NM_181882.2(PRX):c.4117C>T (p.Arg1373Trp) rs766729202
NM_181882.2(PRX):c.4118G>A (p.Arg1373Gln) rs763294661
NM_181882.2(PRX):c.4119_4124GGTCCG[3] (p.1374_1375VR[3])
NM_181882.2(PRX):c.4121T>G (p.Val1374Gly) rs773512610
NM_181882.2(PRX):c.4129C>T (p.Arg1377Cys) rs768524850
NM_181882.2(PRX):c.4130G>A (p.Arg1377His)
NM_181882.2(PRX):c.4138C>T (p.Arg1380Cys) rs771840476
NM_181882.2(PRX):c.4157C>A (p.Pro1386His) rs372582520
NM_181882.2(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.2(PRX):c.4171C>T (p.Arg1391Trp) rs369072136
NM_181882.2(PRX):c.4196C>T (p.Pro1399Leu) rs764183288
NM_181882.2(PRX):c.4207G>A (p.Val1403Ile) rs139051512
NM_181882.2(PRX):c.4219T>G (p.Ser1407Ala) rs146468976
NM_181882.2(PRX):c.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.4318G>A (p.Val1440Met) rs138437458
NM_181882.2(PRX):c.4333A>G (p.Thr1445Ala) rs368067072
NM_181882.2(PRX):c.4349C>T (p.Pro1450Leu)
NM_181882.2(PRX):c.4366G>C (p.Ala1456Pro) rs149093940
NM_181882.2(PRX):c.4376C>T (p.Ala1459Val) rs373051724
NM_181882.2(PRX):c.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.485A>C (p.Lys162Thr) rs879254072
NM_181882.2(PRX):c.493C>T (p.Arg165Cys) rs555499679
NM_181882.2(PRX):c.500G>A (p.Arg167His)
NM_181882.2(PRX):c.500G>C (p.Arg167Pro) rs757322355
NM_181882.2(PRX):c.502C>T (p.Arg168Trp) rs374193988
NM_181882.2(PRX):c.503G>A (p.Arg168Gln) rs763833871
NM_181882.2(PRX):c.509T>C (p.Leu170Pro) rs1387520113
NM_181882.2(PRX):c.539C>T (p.Pro180Leu) rs540526276
NM_181882.2(PRX):c.554G>A (p.Arg185His) rs76756143
NM_181882.2(PRX):c.559C>T (p.Arg187Cys)
NM_181882.2(PRX):c.587G>C (p.Arg196Pro)
NM_181882.2(PRX):c.597C>T (p.Ala199=) rs144157275
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.683G>A (p.Arg228His) rs562108874
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.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.960G>A (p.Ser320=) rs775367319
NM_181882.2(PRX):c.966G>T (p.Val322=) rs139544245
NM_181882.2(PRX):c.992C>T (p.Pro331Leu)
NM_181882.2(PRX):c.994A>G (p.Thr332Ala) rs143710873

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