NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_001005373.4(LRSAM1):c.1088+1G>C
|
rs765641195
|
0.00014
|
NM_001005373.4(LRSAM1):c.1348-1G>A
|
rs747659617
|
0.00009
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
|
rs1246249632
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu)
|
rs764238525
|
0.00004
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)
|
rs768407445
|
0.00003
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)
|
rs748017885
|
0.00002
|
NM_014874.4(MFN2):c.809T>C (p.Met270Thr)
|
rs771996573
|
0.00002
|
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly)
|
rs769977710
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.154G>A (p.Val52Met)
|
rs794726880
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)
|
rs779199750
|
0.00001
|
NM_001122955.4(BSCL2):c.486+1G>A
|
rs1011200048
|
0.00001
|
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
|
rs766728475
|
0.00001
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
NM_001605.3(AARS1):c.2177+1G>A
|
rs766251338
|
0.00001
|
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362
|
0.00001
|
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_003680.4(YARS1):c.620G>A (p.Arg207Gln)
|
rs371267865
|
0.00001
|
NM_006096.4(NDRG1):c.63+1G>A
|
rs1320417829
|
0.00001
|
NM_014845.6(FIG4):c.1388+1G>A
|
rs754338522
|
0.00001
|
NM_014845.6(FIG4):c.2460-2A>G
|
rs1458183004
|
0.00001
|
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val)
|
rs201165591
|
0.00001
|
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr)
|
rs1569830013
|
0.00001
|
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585
|
0.00001
|
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro)
|
rs770852495
|
0.00001
|
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys)
|
rs868185064
|
0.00001
|
NM_021625.5(TRPV4):c.695G>A (p.Arg232His)
|
rs769107613
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)
|
rs750529207
|
0.00001
|
NM_024577.4(SH3TC2):c.279+1G>A
|
rs1198337036
|
0.00001
|
NM_024577.4(SH3TC2):c.529+1G>A
|
rs769410348
|
0.00001
|
NM_024577.4(SH3TC2):c.806-2A>G
|
rs1041389207
|
0.00001
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)
|
rs267607576
|
0.00001
|
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)
|
rs1263919141
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1698+1G>A
|
rs1553266337
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)
|
rs767591489
|
0.00001
|
NC_000001.10:g.(?_12052592)_(12052767_?)dup
|
|
|
NC_000001.10:g.(?_12052592)_(12057498_?)dup
|
|
|
NC_000001.10:g.(?_12052602)_(12057488_?)dup
|
|
|
NC_000001.10:g.(?_12057334)_(12059172_?)del
|
|
|
NC_000001.10:g.(?_12058807)_(12059172_?)dup
|
|
|
NC_000001.10:g.(?_156100388)_(156100584_?)dup
|
|
|
NC_000001.10:g.(?_156100388)_(156107554_?)dup
|
|
|
NC_000001.10:g.(?_156104586)_(156108907_?)del
|
|
|
NC_000001.10:g.(?_156105681)_(156107037_?)del
|
|
|
NC_000001.11:g.(?_156134383)_(156134548_?)del
|
|
|
NC_000001.11:g.(?_156134393)_(156134538_?)del
|
|
|
NC_000001.11:g.(?_156137634)_(156139126_?)del
|
|
|
NC_000006.11:g.(?_110081433)_(110088118_?)dup
|
|
|
NC_000007.14:g.(?_76303782)_(76304193_?)del
|
|
|
NC_000008.10:g.(?_75272366)_(75272551_?)del
|
|
|
NC_000009.11:g.(?_130241728)_(130244069_?)del
|
|
|
NC_000009.11:g.(?_130248084)_(130254631_?)del
|
|
|
NC_000009.12:g.(?_127502764)_(127502909_?)del
|
|
|
NC_000011.10:g.(?_9780408)_(10042991_?)del
|
|
|
NC_000011.9:g.(?_68682281)_(68682501_?)del
|
|
|
NC_000011.9:g.(?_95568454)_(95598860_?)del
|
|
|
NC_000017.10:g.(?_40690337)_(40690793_?)dup
|
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)
|
rs2143075651
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
|
|
|
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.764+2T>C
|
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser)
|
rs2146014404
|
|
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg)
|
rs746903992
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
NM_001005373.4(LRSAM1):c.1043+1G>A
|
rs373571535
|
|
NM_001005373.4(LRSAM1):c.1043+1G>T
|
|
|
NM_001005373.4(LRSAM1):c.1043+2T>G
|
rs746455518
|
|
NM_001005373.4(LRSAM1):c.1088+2T>G
|
|
|
NM_001005373.4(LRSAM1):c.1089-1G>C
|
|
|
NM_001005373.4(LRSAM1):c.1504-2A>G
|
rs1064797013
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001005373.4(LRSAM1):c.1978_1979dup (p.Pro661fs)
|
rs1836370529
|
|
NM_001005373.4(LRSAM1):c.1996_2017del (p.Ala666fs)
|
|
|
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)
|
rs876661208
|
|
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)
|
rs1588143112
|
|
NM_001005373.4(LRSAM1):c.2026_2027del (p.Val676fs)
|
rs2132128455
|
|
NM_001005373.4(LRSAM1):c.2033_2038del (p.Cys678_Glu680delinsTer)
|
|
|
NM_001005373.4(LRSAM1):c.2043_2044dup (p.Glu682fs)
|
rs1554762671
|
|
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)
|
rs879253755
|
|
NM_001005373.4(LRSAM1):c.2092C>T (p.Gln698Ter)
|
|
|
NM_001005373.4(LRSAM1):c.2102del (p.Gln701fs)
|
rs1554763035
|
|
NM_001005373.4(LRSAM1):c.2119C>T (p.Pro707Ser)
|
rs1588144707
|
|
NM_001005373.4(LRSAM1):c.2131C>T (p.Gln711Ter)
|
|
|
NM_001005373.4(LRSAM1):c.252+1G>A
|
rs1554753670
|
|
NM_001005373.4(LRSAM1):c.73-2A>T
|
|
|
NM_001005373.4(LRSAM1):c.849_1088+565del
|
|
|
NM_001005373.4(LRSAM1):c.903+1G>T
|
rs1272943113
|
|
NM_001005373.4(LRSAM1):c.904-17_949del
|
rs2132063794
|
|
NM_001005373.4(LRSAM1):c.904-2A>G
|
rs1171946884
|
|
NM_001122955.4(BSCL2):c.1006-1G>A
|
rs777430457
|
|
NM_001122955.4(BSCL2):c.1006-2A>C
|
|
|
NM_001122955.4(BSCL2):c.1154-1del
|
rs1945285043
|
|
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)
|
rs1590881633
|
|
NM_001122955.4(BSCL2):c.487-1G>A
|
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
|
rs1602485728
|
|
NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala)
|
rs2147256596
|
|
NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)
|
|
|
NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)
|
rs2040679845
|
|
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
|
rs1064796495
|
|
NM_001370298.3(FGD4):c.1404+2T>A
|
rs1948478259
|
|
NM_001370298.3(FGD4):c.1602+1G>C
|
rs2136763097
|
|
NM_001370298.3(FGD4):c.2244_2313+238delinsGGAGG
|
rs1950619177
|
|
NM_001370298.3(FGD4):c.504-2A>C
|
|
|
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)
|
rs2048519381
|
|
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)
|
rs1567019064
|
|
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His)
|
rs2152592202
|
|
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)
|
|
|
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
|
rs2047932647
|
|
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)
|
|
|
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)
|
|
|
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT
|
|
|
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)
|
rs1327664377
|
|
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp)
|
rs377013246
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)
|
|
|
NM_001540.5(HSPB1):c.116C>G (p.Pro39Arg)
|
|
|
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)
|
rs1405359814
|
|
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)
|
rs150110356
|
|
NM_001605.3(AARS1):c.1071+1G>A
|
rs2152160643
|
|
NM_001605.3(AARS1):c.1992+1G>A
|
rs1960065852
|
|
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)
|
rs1597446183
|
|
NM_001605.3(AARS1):c.334-6_338del
|
rs2152166762
|
|
NM_001605.3(AARS1):c.817-1G>A
|
rs866662905
|
|
NM_001605.3(AARS1):c.962+1G>T
|
|
|
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)
|
rs1064795664
|
|
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser)
|
rs1554338264
|
|
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg)
|
rs2128134025
|
|
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
|
|
|
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly)
|
rs1554338641
|
|
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)
|
rs1060502839
|
|
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
|
rs1301948344
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1235+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1236-1G>T
|
rs1124336
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1632+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1633-2A>G
|
rs1566445029
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)
|
rs1240319744
|
|
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
|
|
|
NM_002180.3(IGHMBP2):c.257-2A>G
|
rs1566424655
|
|
NM_002180.3(IGHMBP2):c.449+2T>A
|
|
|
NM_002180.3(IGHMBP2):c.449+2del
|
|
|
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
|
|
|
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.86+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.905_912+85del
|
|
|
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)
|
rs1576304176
|
|
NM_006096.4(NDRG1):c.326+1G>A
|
rs1586446057
|
|
NM_006096.4(NDRG1):c.450+2_450+3del
|
rs1856488064
|
|
NM_006096.4(NDRG1):c.537+1G>T
|
|
|
NM_006096.4(NDRG1):c.595-2A>T
|
rs758718584
|
|
NM_006096.4(NDRG1):c.699-1G>A
|
|
|
NM_006096.4(NDRG1):c.699-2A>C
|
|
|
NM_006096.4(NDRG1):c.755+1G>A
|
rs2130692394
|
|
NM_006096.4(NDRG1):c.808-2A>G
|
rs112360093
|
|
NM_006096.4(NDRG1):c.855+2T>C
|
|
|
NM_006096.4(NDRG1):c.891+2T>C
|
rs1586407193
|
|
NM_006096.4(NDRG1):c.99+1G>A
|
rs2130785568
|
|
NM_006158.5(NEFL):c.1044+2T>G
|
|
|
NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)
|
|
|
NM_006158.5(NEFL):c.1175T>A (p.Leu392His)
|
rs1554497393
|
|
NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)
|
|
|
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)
|
rs1554497573
|
|
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)
|
rs876661290
|
|
NM_014845.6(FIG4):c.1040-1G>A
|
|
|
NM_014845.6(FIG4):c.1138-1G>A
|
|
|
NM_014845.6(FIG4):c.1271+1G>A
|
|
|
NM_014845.6(FIG4):c.1584-1G>T
|
|
|
NM_014845.6(FIG4):c.165+2T>C
|
|
|
NM_014845.6(FIG4):c.165+2T>G
|
|
|
NM_014845.6(FIG4):c.1749_1750+7del
|
rs1777296419
|
|
NM_014845.6(FIG4):c.1890-2A>G
|
rs1777909965
|
|
NM_014845.6(FIG4):c.1948+1G>A
|
|
|
NM_014845.6(FIG4):c.2376+1G>A
|
|
|
NM_014845.6(FIG4):c.447-2A>C
|
rs866895236
|
|
NM_014845.6(FIG4):c.498-2A>G
|
rs1554300952
|
|
NM_014845.6(FIG4):c.67-1G>A
|
|
|
NM_014845.6(FIG4):c.876+2T>G
|
rs2128386656
|
|
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
|
|
|
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr)
|
rs2100841033
|
|
NM_014874.4(MFN2):c.1083C>G (p.His361Gln)
|
rs1639197832
|
|
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro)
|
rs879254176
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)
|
rs1553144066
|
|
NM_014874.4(MFN2):c.1160+1G>A
|
rs1553144086
|
|
NM_014874.4(MFN2):c.1287+1G>C
|
rs1639299226
|
|
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp)
|
rs2100802936
|
|
NM_014874.4(MFN2):c.1496-2A>G
|
|
|
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp)
|
rs772701127
|
|
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
|
|
|
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro)
|
rs375937289
|
|
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
|
|
|
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr)
|
rs1553146551
|
|
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys)
|
rs1060501925
|
|
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly)
|
rs1131691782
|
|
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp)
|
rs756693072
|
|
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.264C>G (p.Ile88Met)
|
rs1553141680
|
|
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)
|
rs1553141706
|
|
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
|
|
|
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
|
|
|
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser)
|
rs776404901
|
|
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
|
|
|
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln)
|
rs2100822581
|
|
NM_014874.4(MFN2):c.449G>T (p.Gly150Val)
|
rs1060501918
|
|
NM_014874.4(MFN2):c.494A>C (p.His165Pro)
|
rs863224970
|
|
NM_014874.4(MFN2):c.495T>A (p.His165Gln)
|
rs1569834720
|
|
NM_014874.4(MFN2):c.495T>G (p.His165Gln)
|
rs1569834720
|
|
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly)
|
rs1569842483
|
|
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu)
|
rs1440006845
|
|
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys)
|
rs2100831900
|
|
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
|
rs1569842714
|
|
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)
|
rs1569842714
|
|
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro)
|
rs1553143165
|
|
NM_014874.4(MFN2):c.700A>G (p.Met234Val)
|
rs2100831955
|
|
NM_014874.4(MFN2):c.700A>T (p.Met234Leu)
|
|
|
NM_014874.4(MFN2):c.708+1G>A
|
rs1639048523
|
|
NM_014874.4(MFN2):c.708+5CTC[2]
|
rs863224842
|
|
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
|
|
|
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)
|
rs1557525000
|
|
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu)
|
rs864622480
|
|
NM_014874.4(MFN2):c.731T>G (p.Val244Gly)
|
rs1060501921
|
|
NM_014874.4(MFN2):c.742C>G (p.Leu248Val)
|
rs1569843694
|
|
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys)
|
rs794729198
|
|
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg)
|
rs1557525153
|
|
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
|
|
|
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu)
|
rs1639171700
|
|
NM_014874.4(MFN2):c.970+1G>T
|
rs1553143890
|
|
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)
|
rs751292488
|
|
NM_016156.6(MTMR2):c.804+1G>C
|
rs1565351898
|
|
NM_016156.6(MTMR2):c.804+2T>G
|
rs1555061026
|
|
NM_016156.6(MTMR2):c.993+1G>A
|
rs1555060614
|
|
NM_018972.4(GDAP1):c.117+1G>A
|
rs1808804404
|
|
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)
|
rs863224774
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)
|
rs773136934
|
|
NM_018972.4(GDAP1):c.311-1790_408del
|
|
|
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
|
rs1174933176
|
|
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
|
rs1586803187
|
|
NM_018972.4(GDAP1):c.457C>T (p.Pro153Ser)
|
rs2131512957
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.485-2del
|
|
|
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg)
|
rs556827873
|
|
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln)
|
rs879254192
|
|
NM_020631.6(PLEKHG5):c.1132-1G>T
|
rs2148585199
|
|
NM_020631.6(PLEKHG5):c.1393-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.1542+1G>C
|
|
|
NM_020631.6(PLEKHG5):c.1543-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1680+1G>T
|
|
|
NM_020631.6(PLEKHG5):c.1801-2A>G
|
|
|
NM_020631.6(PLEKHG5):c.1933+1del
|
|
|
NM_020631.6(PLEKHG5):c.1934-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.2249+1G>A
|
|
|
NM_020631.6(PLEKHG5):c.2250-2A>C
|
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)
|
rs515726154
|
|
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
|
|
|
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del)
|
rs1889549195
|
|
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro)
|
rs769107613
|
|
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)
|
rs1289139464
|
|
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)
|
rs267607146
|
|
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu)
|
rs387906905
|
|
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
|
rs387907340
|
|
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
|
rs1714910248
|
|
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)
|
rs1714805406
|
|
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)
|
rs1553851490
|
|
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
|
|
|
NM_022489.4(INF2):c.314T>A (p.Val105Glu)
|
rs1555373363
|
|
NM_022489.4(INF2):c.397G>A (p.Asp133Asn)
|
rs774135330
|
|
NM_022489.4(INF2):c.470G>A (p.Gly157Asp)
|
rs2140647207
|
|
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781
|
|
NM_024577.4(SH3TC2):c.280-2A>G
|
rs1561770798
|
|
NM_024577.4(SH3TC2):c.3054-2A>C
|
rs1580891465
|
|
NM_024577.4(SH3TC2):c.3054-2A>G
|
|
|
NM_024577.4(SH3TC2):c.3205-2A>G
|
rs2127392891
|
|
NM_024577.4(SH3TC2):c.3478+2T>G
|
rs2127392445
|
|
NM_024577.4(SH3TC2):c.385+1G>T
|
rs2127401413
|
|
NM_024577.4(SH3TC2):c.385+2T>C
|
rs773554464
|
|
NM_024577.4(SH3TC2):c.53-2A>G
|
rs2127403412
|
|
NM_024577.4(SH3TC2):c.806-1G>A
|
rs1554122560
|
|
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)
|
rs1222332332
|
|
NM_030962.3(SBF2):c.1929+15398_2137del
|
|
|
NM_030962.4(SBF2):c.1054-15_1054-2del
|
|
|
NM_030962.4(SBF2):c.1297-2A>G
|
rs752649372
|
|
NM_030962.4(SBF2):c.3110+2_3110+4delinsGAG
|
rs1856483925
|
|
NM_030962.4(SBF2):c.3257-1G>A
|
|
|
NM_030962.4(SBF2):c.3652+1G>C
|
|
|
NM_030962.4(SBF2):c.3979-2A>G
|
|
|
NM_030962.4(SBF2):c.4571-1G>A
|
rs2133861770
|
|
NM_030962.4(SBF2):c.4698+1del
|
rs2133861507
|
|
NM_030962.4(SBF2):c.4699-1G>T
|
|
|
NM_030962.4(SBF2):c.4933-1G>A
|
|
|
NM_030962.4(SBF2):c.5038-2A>G
|
rs2133850270
|
|
NM_030962.4(SBF2):c.56-1G>A
|
rs2135330973
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys)
|
rs267607548
|
|
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
|
|
|
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)
|
rs267607644
|
|
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys)
|
rs1553265733
|
|
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)
|
rs2102888292
|
|
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)
|
rs1060502214
|
|
NM_170707.4(LMNA):c.112C>G (p.Leu38Val)
|
rs2102817550
|
|
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)
|
rs2102817550
|
|
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)
|
|
|
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp)
|
rs267607603
|
|
NM_170707.4(LMNA):c.1157+1G>A
|
rs267607590
|
|
NM_170707.4(LMNA):c.1157+1G>T
|
rs267607590
|
|
NM_170707.4(LMNA):c.1158-1G>T
|
rs1651598289
|
|
NM_170707.4(LMNA):c.115A>C (p.Asn39His)
|
rs267607627
|
|
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)
|
|
|
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile)
|
rs57983345
|
|
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln)
|
rs267607620
|
|
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser)
|
rs2102817644
|
|
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
|
|
|
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)
|
rs58541611
|
|
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)
|
rs1649714371
|
|
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr)
|
rs267607599
|
|
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)
|
|
|
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys)
|
rs61235244
|
|
NM_170707.4(LMNA):c.136A>G (p.Ile46Val)
|
rs267607615
|
|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)
|
rs61282106
|
|
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg)
|
rs267607639
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NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)
|
rs28928902
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NM_170707.4(LMNA):c.143G>A (p.Arg48His)
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|
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NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)
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rs1572332235
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NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg)
|
rs1558132909
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NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1488+1G>T
|
rs267607640
|
|
NM_170707.4(LMNA):c.1489-2A>G
|
rs879254081
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NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
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|
|
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
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|
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NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)
|
rs780302064
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NM_170707.4(LMNA):c.1609-1G>A
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rs111569862
|
|
NM_170707.4(LMNA):c.1609-2A>G
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|
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NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
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NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
|
|
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NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)
|
rs28928900
|
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NM_170707.4(LMNA):c.179G>A (p.Arg60His)
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|
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NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)
|
rs56793579
|
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NM_170707.4(LMNA):c.185G>T (p.Arg62Leu)
|
rs1649721643
|
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NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
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|
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NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
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|
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NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
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NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
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|
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NM_170707.4(LMNA):c.254T>A (p.Leu85His)
|
rs28933090
|
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NM_170707.4(LMNA):c.265C>G (p.Arg89Gly)
|
rs267607559
|
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NM_170707.4(LMNA):c.266G>C (p.Arg89Pro)
|
rs59040894
|
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NM_170707.4(LMNA):c.274C>G (p.Leu92Val)
|
rs267607560
|
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NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)
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NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)
|
rs794728597
|
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NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
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|
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NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
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|
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NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
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NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)
|
rs60652225
|
|
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr)
|
rs397517903
|
|
NM_170707.4(LMNA):c.513+1G>A
|
rs397517904
|
|
NM_170707.4(LMNA):c.513+1G>C
|
rs397517904
|
|
NM_170707.4(LMNA):c.513+2T>C
|
rs1553264668
|
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NM_170707.4(LMNA):c.513+2T>G
|
rs1553264668
|
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NM_170707.4(LMNA):c.513G>A (p.Lys171=)
|
rs267607542
|
|
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro)
|
rs1651348222
|
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NM_170707.4(LMNA):c.593A>C (p.Gln198Pro)
|
rs2102878915
|
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NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
|
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
|
|
|
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.639+1G>A
|
rs869125101
|
|
NM_170707.4(LMNA):c.639+1G>T
|
rs869125101
|
|
NM_170707.4(LMNA):c.640-2A>G
|
rs1572359505
|
|
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
|
|
|
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu)
|
rs199474724
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)
|
|
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NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
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|
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NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)
|
rs58327533
|
|
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)
|
rs121912496
|
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NM_170707.4(LMNA):c.74G>A (p.Arg25His)
|
|
|
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)
|
rs61578124
|
|
NM_170707.4(LMNA):c.811-1G>A
|
rs1365042239
|
|
NM_170707.4(LMNA):c.811-2A>G
|
rs2102883099
|
|
NM_170707.4(LMNA):c.857_859del (p.Gly286del)
|
rs59564495
|
|
NM_170707.4(LMNA):c.869A>T (p.Glu290Val)
|
rs1651453317
|
|
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
|
|
|
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)
|
rs267607591
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_170707.4(LMNA):c.937-1G>A
|
rs1553265606
|
|
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro)
|
rs59301204
|
|
NM_181882.3(PRX):c.184+2T>A
|
rs2079511684
|
|
NM_181882.3(PRX):c.184+2T>C
|
rs2079511684
|
|
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
|
|
|
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter)
|
rs2145726269
|
|