NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
NM_030973.4(MED25):c.418C>T (p.Arg140Trp)
|
rs781140315
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter)
|
rs761931081
|
0.00005
|
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)
|
rs144183238
|
0.00005
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_001370298.3(FGD4):c.1402del (p.Gln468fs)
|
rs1393673267
|
0.00004
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)
|
rs387906990
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)
|
rs1064793771
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005
|
0.00003
|
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter)
|
rs768830699
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_181882.3(PRX):c.589G>T (p.Glu197Ter)
|
rs753857146
|
0.00003
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)
|
rs138515091
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002180.3(IGHMBP2):c.2784+1G>T
|
rs797044803
|
0.00002
|
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)
|
rs139497493
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)
|
rs756689732
|
0.00002
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
|
rs766000735
|
0.00001
|
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
|
rs879111128
|
0.00001
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
0.00001
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)
|
rs1353058781
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)
|
rs1230894568
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)
|
rs748042028
|
0.00001
|
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)
|
rs1279412522
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)
|
rs752177472
|
0.00001
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)
|
rs749012928
|
0.00001
|
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
|
rs747130246
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)
|
rs1156243243
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs)
|
rs1244155207
|
0.00001
|
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)
|
rs137852975
|
0.00001
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)
|
rs751404531
|
0.00001
|
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)
|
rs899737461
|
0.00001
|
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)
|
rs778377449
|
0.00001
|
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs)
|
rs748762287
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)
|
rs28939681
|
0.00001
|
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
|
rs1240900244
|
0.00001
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023
|
0.00001
|
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter)
|
rs761043713
|
0.00001
|
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter)
|
rs1173826571
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)
|
rs1398433261
|
0.00001
|
NM_001605.3(AARS1):c.720_721del (p.Gly241fs)
|
rs977976041
|
0.00001
|
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)
|
rs777601008
|
0.00001
|
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)
|
rs758183257
|
0.00001
|
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1061-2A>G
|
rs1424522130
|
0.00001
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
rs760811074
|
0.00001
|
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+1G>T
|
rs786205090
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+1G>C
|
rs774079947
|
0.00001
|
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764
|
0.00001
|
NM_003680.4(YARS1):c.499C>A (p.Pro167Thr)
|
rs1279417718
|
0.00001
|
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)
|
rs1048918488
|
0.00001
|
NM_006096.4(NDRG1):c.205+1G>A
|
rs1060503092
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter)
|
rs201616934
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_014874.4(MFN2):c.2221T>G (p.Leu741Val)
|
rs1060501917
|
0.00001
|
NM_014874.4(MFN2):c.558dup (p.Lys187Ter)
|
rs772732232
|
0.00001
|
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)
|
rs373107074
|
0.00001
|
NM_014874.4(MFN2):c.776G>A (p.Arg259His)
|
rs755065651
|
0.00001
|
NM_014874.4(MFN2):c.820C>T (p.Arg274Trp)
|
rs762440627
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)
|
rs751677491
|
0.00001
|
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
|
rs1177373744
|
0.00001
|
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
|
rs1864438088
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter)
|
rs1443592761
|
0.00001
|
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs)
|
rs1266507622
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)
|
rs1032796987
|
0.00001
|
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter)
|
rs1433023728
|
0.00001
|
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)
|
rs1270869520
|
0.00001
|
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter)
|
rs1413469900
|
0.00001
|
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
|
rs774667470
|
0.00001
|
NM_030962.4(SBF2):c.444del (p.Asn149fs)
|
rs1295003959
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter)
|
rs267607622
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
NM_170707.4(LMNA):c.640-10A>G
|
rs80356807
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr)
|
rs1553265433
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)
|
rs574861276
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs)
|
rs1301129751
|
0.00001
|
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs)
|
rs1474525486
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NC_000001.10:g.(?_12049226)_(12065004_?)del
|
|
|
NC_000001.10:g.(?_12058807)_(12059172_?)del
|
|
|
NC_000001.10:g.(?_12058817)_(12059162_?)del
|
|
|
NC_000001.10:g.(?_155581953)_(156851434_?)del
|
|
|
NC_000001.10:g.(?_156083461)_(156110880_?)del
|
|
|
NC_000001.10:g.(?_156084700)_(156108907_?)del
|
|
|
NC_000001.10:g.(?_156084710)_(156085085_?)del
|
|
|
NC_000001.10:g.(?_156100388)_(156100584_?)del
|
|
|
NC_000001.10:g.(?_156100388)_(156108568_?)del
|
|
|
NC_000001.10:g.(?_156104184)_(156105922_?)dup
|
|
|
NC_000001.10:g.(?_156105672)_(156108897_?)del
|
|
|
NC_000001.10:g.(?_156105693)_(156106165_?)del
|
|
|
NC_000001.10:g.(?_156106692)_(156107554_?)del
|
|
|
NC_000001.11:g.(?_156114899)_(156126243_?)del
|
|
|
NC_000001.11:g.(?_156114899)_(156139859_?)del
|
|
|
NC_000001.11:g.(?_156114909)_(156115284_?)del
|
|
|
NC_000001.11:g.(?_156114919)_(156243162_?)del
|
|
|
NC_000001.11:g.(?_156134393)_(156139116_?)del
|
|
|
NC_000001.11:g.(?_6467553)_(6477668_?)del
|
|
|
NC_000001.11:g.(?_6474003)_(6477668_?)del
|
|
|
NC_000001.11:g.12001772del
|
|
|
NC_000001.11:g.12001772dup
|
|
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
|
NC_000005.10:g.(?_149062971)_(149063174_?)del
|
|
|
NC_000005.9:g.(?_148360713)_(148443737_?)del
|
|
|
NC_000005.9:g.(?_148420147)_(148420260_?)del
|
|
|
NC_000005.9:g.(?_148426859)_(148427552_?)del
|
|
|
NC_000006.11:g.(?_107019871)_(110266416_?)del
|
|
|
NC_000006.11:g.(?_110012639)_(110064995_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110053276_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110098283_?)del
|
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
|
NC_000007.13:g.(?_75933099)_(75933490_?)del
|
|
|
NC_000007.14:g.(?_76303789)_(76304183_?)del
|
|
|
NC_000007.14:g.(?_76303802)_(76304173_?)del
|
|
|
NC_000008.10:g.(?_134107268)_(134296554_?)del
|
|
|
NC_000008.10:g.(?_134260948)_(134262796_?)del
|
|
|
NC_000008.10:g.(?_134292465)_(134296564_?)del
|
|
|
NC_000008.10:g.(?_24810323)_(25892142_?)del
|
|
|
NC_000008.10:g.(?_75262697)_(75276602_?)del
|
|
|
NC_000009.11:g.(?_130229999)_(130230129_?)del
|
|
|
NC_000009.11:g.(?_130245209)_(130245319_?)del
|
|
|
NC_000009.11:g.(?_130265033)_(130265178_?)del
|
|
|
NC_000009.12:g.(?_127501000)_(127501153_?)del
|
|
|
NC_000011.10:g.(?_10193902)_(10193987_?)del
|
|
|
NC_000011.10:g.(?_62702448)_(62702569_?)del
|
|
|
NC_000011.9:g.(?_10215443)_(10215540_?)del
|
|
|
NC_000011.9:g.(?_62457839)_(62462203_?)del
|
|
|
NC_000011.9:g.(?_68671411)_(68707209_?)del
|
|
|
NC_000011.9:g.(?_68671421)_(68679091_?)del
|
|
|
NC_000011.9:g.(?_68673517)_(68682511_?)del
|
|
|
NC_000011.9:g.(?_68682271)_(68682511_?)del
|
|
|
NC_000011.9:g.(?_9809161)_(9812250_?)del
|
|
|
NC_000011.9:g.(?_9809171)_(9812240_?)del
|
|
|
NC_000011.9:g.(?_9864152)_(9871785_?)del
|
|
|
NC_000011.9:g.(?_9989878)_(9990102_?)del
|
|
|
NC_000012.11:g.(?_32729292)_(32793467_?)del
|
|
|
NC_000012.12:g.(?_32576256)_(32640543_?)del
|
|
|
NC_000012.12:g.(?_32576352)_(32619876_?)del
|
|
|
NC_000016.9:g.(?_70294927)_(70311077_?)del
|
|
|
NC_000017.10:g.(?_40688281)_(40693234_?)del
|
|
|
NC_000017.10:g.(?_40689396)_(40690793_?)del
|
|
|
NC_000017.10:g.(?_40690337)_(40690793_?)del
|
|
|
NC_000017.10:g.(?_40690347)_(40690783_?)del
|
|
|
NC_000019.10:g.(?_40403686)_(40403882_?)del
|
|
|
NC_000019.10:g.(?_40403696)_(40403872_?)del
|
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.1022-2A>G
|
|
|
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
|
|
|
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
|
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
|
rs2092925958
|
|
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs)
|
rs2143108228
|
|
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
|
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
|
|
|
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
|
rs2092926507
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1336del (p.Glu446fs)
|
rs2143109467
|
|
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
|
|
|
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
|
|
|
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)
|
rs375103824
|
|
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
|
rs2143075902
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)
|
rs118204024
|
|
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
|
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
|
rs749338526
|
|
NM_000263.4(NAGLU):c.1460dup (p.His487fs)
|
rs2143110493
|
|
NM_000263.4(NAGLU):c.147del (p.Val50fs)
|
|
|
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
|
|
|
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
|
|
|
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter)
|
rs2143111795
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
|
|
|
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)
|
rs2143113566
|
|
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs)
|
rs2143113857
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.192del (p.Tyr65fs)
|
rs2092906340
|
|
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)
|
rs527236038
|
|
NM_000263.4(NAGLU):c.1A>G (p.Met1Val)
|
rs1325661354
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
|
|
|
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
|
|
|
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
|
rs2143076561
|
|
NM_000263.4(NAGLU):c.222_247del (p.Val75fs)
|
rs1201516783
|
|
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
|
|
|
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
|
|
|
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs)
|
rs2143076795
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
|
|
|
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)
|
rs2092906864
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs)
|
rs2143077277
|
|
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
|
|
|
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
|
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)
|
rs796052123
|
|
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter)
|
rs1453761645
|
|
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)
|
rs2143074939
|
|
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
|
|
|
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter)
|
rs2143082104
|
|
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
|
|
|
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
|
|
|
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
|
rs1261241939
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
|
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
|
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter)
|
rs2143082538
|
|
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
|
rs2143075344
|
|
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
|
|
|
NM_000263.4(NAGLU):c.59dup (p.Ala21fs)
|
rs1253870232
|
|
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
|
rs2143086665
|
|
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs)
|
rs2143086826
|
|
NM_000263.4(NAGLU):c.640dup (p.Leu214fs)
|
rs2143086910
|
|
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
|
|
|
NM_000263.4(NAGLU):c.642dup (p.Pro215fs)
|
rs2092912932
|
|
NM_000263.4(NAGLU):c.648del (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.648dup (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
|
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
|
|
|
NM_000263.4(NAGLU):c.713del (p.Met238fs)
|
rs2143088088
|
|
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
|
rs2143075470
|
|
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
|
|
|
NM_000263.4(NAGLU):c.741del (p.His248fs)
|
|
|
NM_000263.4(NAGLU):c.820del (p.Ser274fs)
|
rs1452185692
|
|
NM_000263.4(NAGLU):c.82dup (p.Glu28fs)
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
|
rs2092920511
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs)
|
rs2143099555
|
|
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
|
|
|
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)
|
rs1599620408
|
|
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)
|
rs1269225724
|
|
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)
|
rs951875086
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)
|
rs1555715869
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
rs2073098775
|
|
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)
|
rs1588121150
|
|
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs)
|
rs1834464693
|
|
NM_001005373.4(LRSAM1):c.1135_1136del (p.Ser379fs)
|
rs2132073231
|
|
NM_001005373.4(LRSAM1):c.1333del (p.Gln445fs)
|
rs866892723
|
|
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs)
|
rs1588132672
|
|
NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)
|
|
|
NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)
|
|
|
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.2047-1G>A
|
rs1564287793
|
|
NM_001005373.4(LRSAM1):c.2075_2087del (p.His692fs)
|
|
|
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)
|
rs759312530
|
|
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)
|
rs961918637
|
|
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)
|
rs1554763017
|
|
NM_001005373.4(LRSAM1):c.2108_2114del (p.Leu703fs)
|
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter)
|
rs2132010730
|
|
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)
|
rs1168470052
|
|
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter)
|
rs1554754342
|
|
NM_001005373.4(LRSAM1):c.428_435dup (p.Val146fs)
|
|
|
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
|
|
|
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs)
|
rs1215220865
|
|
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter)
|
rs1345228128
|
|
NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)
|
|
|
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs)
|
|
|
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs)
|
rs1554982914
|
|
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs)
|
rs2134690008
|
|
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter)
|
rs1945289474
|
|
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter)
|
rs2134689565
|
|
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs)
|
rs779154593
|
|
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs)
|
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer)
|
|
|
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)
|
|
|
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)
|
rs758843908
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
|
rs281865135
|
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796
|
|
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
|
rs1555938741
|
|
NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)
|
|
|
NM_001303256.3(MORC2):c.1396G>A (p.Asp466Asn)
|
|
|
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)
|
rs864309504
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
|
rs1602496057
|
|
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
|
rs886037934
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001303256.3(MORC2):c.798G>C (p.Arg266Ser)
|
rs1064796495
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)
|
rs201676628
|
|
NM_001370298.3(FGD4):c.1051del (p.Leu351fs)
|
rs1948089932
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)
|
rs1948408994
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1454del (p.Pro485fs)
|
rs1592387932
|
|
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
|
|
|
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)
|
rs2136932206
|
|
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)
|
rs1401878479
|
|
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs)
|
rs1555223595
|
|
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs)
|
rs2137076976
|
|
NM_001370298.3(FGD4):c.2452del (p.Gln818fs)
|
rs1060501904
|
|
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
|
|
|
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs)
|
rs1951100155
|
|
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001370298.3(FGD4):c.616del (p.Gln206fs)
|
rs2136432373
|
|
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
|
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412
|
|
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)
|
rs757725348
|
|
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)
|
rs2152594747
|
|
NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val)
|
rs2141272574
|
|
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
|
rs2047931446
|
|
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala)
|
rs2141274671
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)
|
rs879254085
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)
|
|
|
NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys)
|
rs2141284990
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp)
|
rs1351401023
|
|
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)
|
rs879253881
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)
|
rs2047850664
|
|
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys)
|
rs1555410941
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)
|
rs797045177
|
|
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del)
|
rs797044918
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.180dup (p.Ala61fs)
|
rs1064796370
|
|
NM_001540.5(HSPB1):c.245_246insT (p.Ser83fs)
|
|
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met)
|
rs1064795077
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568
|
|
NM_001540.5(HSPB1):c.472del (p.Ser158fs)
|
|
|
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
|
rs1803069940
|
|
NM_001540.5(HSPB1):c.512del (p.Lys171fs)
|
rs1554614680
|
|
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)
|
rs1060503021
|
|
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
|
rs1422978230
|
|
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala)
|
rs104894020
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)
|
rs2152160733
|
|
NM_001605.3(AARS1):c.1032del (p.Phe345fs)
|
|
|
NM_001605.3(AARS1):c.111dup (p.Thr38fs)
|
rs1597448762
|
|
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter)
|
|
|
NM_001605.3(AARS1):c.11_15del (p.Thr4fs)
|
rs1211684571
|
|
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter)
|
rs369135192
|
|
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs)
|
rs1555540896
|
|
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)
|
|
|
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs)
|
|
|
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs)
|
rs1567604571
|
|
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs)
|
rs1438690757
|
|
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)
|
|
|
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter)
|
rs752548366
|
|
NM_001605.3(AARS1):c.1877del (p.Gly626fs)
|
|
|
NM_001605.3(AARS1):c.1939del (p.Gln647fs)
|
|
|
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs)
|
rs1597435790
|
|
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs)
|
rs1597435337
|
|
NM_001605.3(AARS1):c.2017del (p.Leu673fs)
|
rs781347519
|
|
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)
|
|
|
NM_001605.3(AARS1):c.2324_2325del (p.Ser775fs)
|
|
|
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer)
|
|
|
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)
|
rs763937206
|
|
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)
|
|
|
NM_001605.3(AARS1):c.651del (p.Val218fs)
|
rs1960409206
|
|
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)
|
|
|
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)
|
rs756337758
|
|
NM_001605.3(AARS1):c.962+1del
|
rs1960348987
|
|
NM_001605.3(AARS1):c.966T>A (p.Tyr322Ter)
|
|
|
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
|
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)
|
rs868097991
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974
|
|
NM_002047.4(GARS1):c.875T>G (p.Met292Arg)
|
rs1064795123
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)
|
rs1584034430
|
|
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)
|
|
|
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
|
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
|
|
|
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs)
|
rs1594445698
|
|
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter)
|
rs137852668
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
|
rs780692442
|
|
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
|
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs)
|
rs777570288
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708
|
|
NM_002180.3(IGHMBP2):c.133del (p.Val45fs)
|
rs1594415353
|
|
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
|
|
|
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
|
|
|
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala)
|
rs2154008651
|
|
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
rs556292818
|
|
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
|
rs1594453111
|
|
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887
|
|
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
|
|
|
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)
|
rs1555247732
|
|
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
|
rs1311146809
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
|
|
|
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
|
|
|
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
|
|
|
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
|
|
|
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
|
rs755468547
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)
|
rs754422011
|
|
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
|
|
|
NM_002180.3(IGHMBP2):c.2611+1G>A
|
rs786205090
|
|
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)
|
rs2154009273
|
|
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
|
|
|
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
|
|
|
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
|
|
|
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
|
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
|
|
|
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter)
|
rs1015531394
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
|
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs)
|
rs2154006724
|
|
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
|
|
|
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
|
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
|
rs1858438320
|
|
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
|
|
|
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs)
|
rs2154006948
|
|
NM_002180.3(IGHMBP2):c.711+1G>A
|
|
|
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs)
|
rs2154007211
|
|
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)
|
rs1594427564
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
|
|
|
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)
|
rs1566430156
|
|
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)
|
rs863224880
|
|
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
|
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833
|
|
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834
|
|
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834
|
|
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078
|
|
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)
|
rs121909081
|
|
NM_004637.6(RAB7A):c.482A>T (p.Asn161Ile)
|
rs121909080
|
|
NM_004637.6(RAB7A):c.484G>A (p.Val162Met)
|
rs121909079
|
|
NM_005391.5(PDK3):c.473G>A (p.Arg158His)
|
rs397515323
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)
|
rs794728612
|
|
NM_006096.4(NDRG1):c.205+1G>C
|
|
|
NM_006096.4(NDRG1):c.205+1G>T
|
rs1060503092
|
|
NM_006096.4(NDRG1):c.205+2T>A
|
rs1586451553
|
|
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_006096.4(NDRG1):c.368del (p.Pro123fs)
|
rs2130727371
|
|
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
|
|
|
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
|
|
|
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs)
|
rs2130719686
|
|
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
|
rs1855957969
|
|
NM_006096.4(NDRG1):c.641del (p.His214fs)
|
|
|
NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)
|
|
|
NM_006158.4(NEFL):c.1414=
|
|
|
NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)
|
rs757417962
|
|
NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)
|
|
|
NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)
|
rs879253927
|
|
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503
|
|
NM_006158.5(NEFL):c.1240dup (p.Gln414fs)
|
|
|
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286
|
|
NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)
|
|
|
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882
|
|
NM_006158.5(NEFL):c.22C>A (p.Pro8Thr)
|
rs886043551
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)
|
rs61491953
|
|
NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)
|
rs58332872
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
|
rs766951637
|
|
NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter)
|
rs545637885
|
|
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)
|
rs1431523432
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter)
|
rs2117254540
|
|
NM_006158.5(NEFL):c.796G>A (p.Glu266Lys)
|
rs1411999109
|
|
NM_006158.5(NEFL):c.799_803del (p.Lys267fs)
|
|
|
NM_006158.5(NEFL):c.832del (p.Glu278fs)
|
|
|
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter)
|
rs1586128143
|
|
NM_006158.5(NEFL):c.865_871del (p.Glu289fs)
|
|
|
NM_006158.5(NEFL):c.968G>C (p.Arg323Pro)
|
rs864622499
|
|
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585
|
|
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014874.3(MFN2):c.600-?_816+?del
|
|
|
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)
|
|
|
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)
|
rs119103261
|
|
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu)
|
rs1064795818
|
|
NM_014874.4(MFN2):c.1081C>T (p.His361Tyr)
|
rs1569854012
|
|
NM_014874.4(MFN2):c.1082A>C (p.His361Pro)
|
rs1064793170
|
|
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)
|
rs879254011
|
|
NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro)
|
|
|
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter)
|
rs1639200820
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)
|
|
|
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)
|
rs879253939
|
|
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)
|
rs1057517987
|
|
NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter)
|
rs764374251
|
|
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs)
|
rs2100852782
|
|
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer)
|
rs2100853005
|
|
NM_014874.4(MFN2):c.1606del (p.Asp536fs)
|
rs2100853065
|
|
NM_014874.4(MFN2):c.1612del (p.Gln538fs)
|
rs1569865516
|
|
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)
|
|
|
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs)
|
rs1569868729
|
|
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter)
|
rs2100856157
|
|
NM_014874.4(MFN2):c.1854del (p.Val620fs)
|
|
|
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)
|
|
|
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830
|
|
NM_014874.4(MFN2):c.2054_2069+1171del
|
|
|
NM_014874.4(MFN2):c.2092del (p.His698fs)
|
rs1569882539
|
|
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
|
rs1557537223
|
|
NM_014874.4(MFN2):c.214dup (p.Glu72fs)
|
|
|
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)
|
rs1557537346
|
|
NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter)
|
rs1317009723
|
|
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)
|
rs1569889919
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)
|
rs1553146559
|
|
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys)
|
rs1064794571
|
|
NM_014874.4(MFN2):c.2249_2250del (p.His750fs)
|
|
|
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter)
|
rs1557539119
|
|
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter)
|
rs863224968
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.245del (p.Leu82fs)
|
rs2100812695
|
|
NM_014874.4(MFN2):c.262A>T (p.Ile88Phe)
|
rs1569816194
|
|
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr)
|
rs1638739035
|
|
NM_014874.4(MFN2):c.271_274del (p.Val91fs)
|
|
|
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)
|
rs1569816285
|
|
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)
|
rs119103263
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.283_285del (p.Arg95del)
|
rs1638740322
|
|
NM_014874.4(MFN2):c.285G>C (p.Arg95Ser)
|
rs1553141686
|
|
NM_014874.4(MFN2):c.285G>T (p.Arg95Ser)
|
rs1553141686
|
|
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly)
|
rs1553141707
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.312-16_314del
|
rs2100822209
|
|
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala)
|
rs1553142428
|
|
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)
|
rs863224069
|
|
NM_014874.4(MFN2):c.318C>G (p.Ser106Arg)
|
rs778937659
|
|
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)
|
rs1553142436
|
|
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
|
|
|
NM_014874.4(MFN2):c.361del (p.Val121fs)
|
|
|
NM_014874.4(MFN2):c.382C>T (p.His128Tyr)
|
rs2100822486
|
|
NM_014874.4(MFN2):c.406dup (p.Val136fs)
|
rs759844257
|
|
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.475-1G>C
|
rs1569834500
|
|
NM_014874.4(MFN2):c.475-2A>G
|
rs1557522794
|
|
NM_014874.4(MFN2):c.475-7_478del
|
rs2100825988
|
|
NM_014874.4(MFN2):c.493C>G (p.His165Asp)
|
rs119103262
|
|
NM_014874.4(MFN2):c.493C>T (p.His165Tyr)
|
rs119103262
|
|
NM_014874.4(MFN2):c.494A>G (p.His165Arg)
|
rs863224970
|
|
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)
|
rs1557522849
|
|
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)
|
|
|
NM_014874.4(MFN2):c.555del (p.Ser186fs)
|
|
|
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly)
|
rs1639043704
|
|
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr)
|
rs1557524703
|
|
NM_014874.4(MFN2):c.650G>T (p.Cys217Phe)
|
rs1569842458
|
|
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro)
|
rs879253925
|
|
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr)
|
rs1639045345
|
|
NM_014874.4(MFN2):c.674_680del (p.Leu225fs)
|
rs1060501915
|
|
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp)
|
rs1569842685
|
|
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter)
|
rs879254210
|
|
NM_014874.4(MFN2):c.705G>C (p.Gln235His)
|
|
|
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.718T>G (p.Phe240Val)
|
rs1557525005
|
|
NM_014874.4(MFN2):c.730G>A (p.Val244Met)
|
rs879253777
|
|
NM_014874.4(MFN2):c.748del (p.Arg250fs)
|
|
|
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)
|
rs1557525153
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)
|
rs755065651
|
|
NM_014874.4(MFN2):c.779G>A (p.Trp260Ter)
|
|
|
NM_014874.4(MFN2):c.818T>G (p.Val273Gly)
|
rs1458700065
|
|
NM_014874.4(MFN2):c.828G>T (p.Gln276His)
|
rs1569851570
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter)
|
rs866604005
|
|
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)
|
rs1553143852
|
|
NM_016156.6(MTMR2):c.1034del (p.Asn345fs)
|
rs863224516
|
|
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
|
rs1863723947
|
|
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)
|
rs1590974596
|
|
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)
|
rs758637255
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
|
|
|
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)
|
rs1590997023
|
|
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)
|
rs1358449243
|
|
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
|
|
|
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
|
|
|
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
|
rs769429967
|
|
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)
|
rs757563721
|
|
NM_016156.6(MTMR2):c.874del (p.Ser292fs)
|
rs1863944217
|
|
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
|
|
|
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
|
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
|
|
|
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)
|
rs2131493453
|
|
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
|
|
|
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
|
|
|
NM_018972.4(GDAP1):c.1del (p.Met1fs)
|
|
|
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)
|
rs1586794015
|
|
NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
|
rs1243845978
|
|
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
|
rs1808867656
|
|
NM_018972.4(GDAP1):c.250del (p.Glu84fs)
|
rs1241632021
|
|
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)
|
rs2131493519
|
|
NM_018972.4(GDAP1):c.310+1G>A
|
rs1808872865
|
|
NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs)
|
rs1644626732
|
|
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs)
|
rs1644591704
|
|
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
|
|
|
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
|
|
|
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs)
|
rs1644550472
|
|
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs)
|
rs1644549927
|
|
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
|
|
|
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
|
|
|
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
|
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs)
|
rs1644525008
|
|
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs)
|
rs2148578668
|
|
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
|
|
|
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter)
|
rs184242303
|
|
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
|
|
|
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
|
|
|
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs)
|
rs759212541
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
|
|
|
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
|
|
|
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
|
|
|
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
|
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
|
|
|
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
|
|
|
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
|
|
|
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
|
|
|
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
|
|
|
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs)
|
rs2148591365
|
|
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
|
|
|
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs)
|
rs1569875704
|
|
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs)
|
rs1644651573
|
|
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
|
rs376900021
|
|
NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)
|
|
|
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)
|
rs515726153
|
|
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.1799G>A (p.Gly600Glu)
|
rs2136468103
|
|
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)
|
rs121912632
|
|
NM_021625.5(TRPV4):c.1849T>C (p.Phe617Leu)
|
rs2136466291
|
|
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)
|
rs515726162
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
|
rs267607149
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)
|
rs2136413100
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.709C>G (p.Arg237Gly)
|
rs746368269
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)
|
rs267607148
|
|
NM_021625.5(TRPV4):c.838G>A (p.Gly280Ser)
|
rs763354006
|
|
NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)
|
rs267607143
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)
|
rs387907341
|
|
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)
|
rs1555373261
|
|
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
|
rs1595163736
|
|
NM_022489.4(INF2):c.218G>T (p.Gly73Val)
|
rs918089359
|
|
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
|
rs1595163851
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034
|
|
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)
|
rs387907036
|
|
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
|
rs1595164091
|
|
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037
|
|
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
|
rs387907038
|
|
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)
|
rs1555373599
|
|
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)
|
rs1566778676
|
|
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921
|
|
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
|
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
|
|
|
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs)
|
rs1949709115
|
|
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)
|
rs1564923441
|
|
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
|
|
|
NM_030962.4(SBF2):c.2536+1G>A
|
rs1060500001
|
|
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
|
|
|
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
|
|
|
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
|
|
|
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
|
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
|
|
|
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
|
|
|
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
|
|
|
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
|
|
|
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
|
|
|
NM_030962.4(SBF2):c.4443+1G>A
|
rs1564872328
|
|
NM_030962.4(SBF2):c.5037+1G>A
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5037+1G>C
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)
|
|
|
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)
|
rs141133392
|
|
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
|
|
|
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
|
|
|
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)
|
rs1565115957
|
|
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
|
|
|
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
|
|
|
NM_170707.4(LMNA):c.1003del (p.Arg335fs)
|
rs1553265660
|
|
NM_170707.4(LMNA):c.1030del (p.Glu344fs)
|
rs1572362885
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)
|
rs267607623
|
|
NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter)
|
rs1651564707
|
|
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)
|
rs267607617
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1089_1114dup (p.Glu372fs)
|
|
|
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)
|
rs878855231
|
|
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)
|
rs397517886
|
|
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)
|
rs397517888
|
|
NM_170707.4(LMNA):c.1114del (p.Glu372fs)
|
rs267607575
|
|
NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly)
|
rs2102888292
|
|
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)
|
rs1553265736
|
|
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)
|
rs1340894696
|
|
NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)
|
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1142del (p.Glu381fs)
|
rs1553265760
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)
|
rs1651580090
|
|
NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys)
|
rs2102888695
|
|
NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)
|
rs1572363397
|
|
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)
|
rs267607545
|
|
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro)
|
rs879253934
|
|
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)
|
rs57983345
|
|
NM_170707.4(LMNA):c.117T>A (p.Asn39Lys)
|
|
|
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)
|
rs267607561
|
|
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)
|
rs267607620
|
|
NM_170707.4(LMNA):c.11dup (p.Ser5fs)
|
rs1572331707
|
|
NM_170707.4(LMNA):c.1214del (p.His405fs)
|
|
|
NM_170707.4(LMNA):c.1215_1218del (p.Ser406fs)
|
|
|
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser)
|
rs1572332164
|
|
NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)
|
|
|
NM_170707.4(LMNA):c.1229_1230del (p.Gln410fs)
|
|
|
NM_170707.4(LMNA):c.122G>A (p.Arg41His)
|
rs1060502215
|
|
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu)
|
rs1060502215
|
|
NM_170707.4(LMNA):c.1232del (p.Gly411fs)
|
rs2102889960
|
|
NM_170707.4(LMNA):c.1232dup (p.Gly412fs)
|
rs2102889960
|
|
NM_170707.4(LMNA):c.1238del (p.Gly413fs)
|
rs2102890051
|
|
NM_170707.4(LMNA):c.1248del (p.Lys418fs)
|
rs2102890220
|
|
NM_170707.4(LMNA):c.1253del (p.Lys418fs)
|
rs2102890245
|
|
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)
|
rs1448275854
|
|
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs)
|
rs1553265865
|
|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr)
|
rs60446065
|
|
NM_170707.4(LMNA):c.128C>A (p.Ala43Glu)
|
rs2102817667
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1315dup (p.Arg439fs)
|
|
|
NM_170707.4(LMNA):c.1316_1322del (p.Arg439fs)
|
|
|
NM_170707.4(LMNA):c.1321del (p.Ala441fs)
|
rs2102890974
|
|
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly)
|
rs58541611
|
|
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter)
|
rs2102891243
|
|
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)
|
rs267607637
|
|
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys)
|
rs58436778
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)
|
rs267607598
|
|
NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter)
|
rs2102817698
|
|
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)
|
rs267607597
|
|
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del)
|
rs267607550
|
|
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)
|
rs267607599
|
|
NM_170707.4(LMNA):c.1377dup (p.Glu460Ter)
|
rs2102891579
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1380+2T>G
|
rs1553265924
|
|
NM_170707.4(LMNA):c.1397del (p.Asn466fs)
|
rs58100028
|
|
NM_170707.4(LMNA):c.13del (p.Ser5fs)
|
rs1649695841
|
|
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)
|
rs794728613
|
|
NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter)
|
rs2102893828
|
|
NM_170707.4(LMNA):c.1417_1438dup (p.Thr480delinsLysTrpArgTer)
|
|
|
NM_170707.4(LMNA):c.1436del (p.Leu479fs)
|
rs1553266024
|
|
NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly)
|
rs57920071
|
|
NM_170707.4(LMNA):c.1473del (p.Gln493fs)
|
|
|
NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro)
|
rs1553266048
|
|
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)
|
rs57730570
|
|
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu)
|
rs60695352
|
|
NM_170707.4(LMNA):c.1510del (p.Ala504fs)
|
rs1572366216
|
|
NM_170707.4(LMNA):c.1516del (p.His506fs)
|
rs1558133157
|
|
NM_170707.4(LMNA):c.1526del (p.Pro509fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)
|
rs1572366412
|
|
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter)
|
rs2102895466
|
|
NM_170707.4(LMNA):c.1551_1587dup (p.Leu530fs)
|
rs2102895541
|
|
NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg)
|
rs267607557
|
|
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)
|
rs267607557
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs)
|
rs1572366593
|
|
NM_170707.4(LMNA):c.1580dup (p.Thr528fs)
|
|
|
NM_170707.4(LMNA):c.1582_1583del (p.Thr528fs)
|
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)
|
rs1558133435
|
|
NM_170707.4(LMNA):c.1587_1590dup (p.Ile531fs)
|
rs2102896007
|
|
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)
|
rs60290646
|
|
NM_170707.4(LMNA):c.1599del (p.Thr534fs)
|
|
|
NM_170707.4(LMNA):c.1606del (p.Glu536fs)
|
rs1651736894
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.1608+2T>G
|
rs2102896324
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.162_163del (p.Asn56fs)
|
rs879253932
|
|
NM_170707.4(LMNA):c.163G>T (p.Glu55Ter)
|
rs1649719689
|
|
NM_170707.4(LMNA):c.1657dup (p.Asp553fs)
|
rs1572367812
|
|
NM_170707.4(LMNA):c.1660del (p.Glu554fs)
|
|
|
NM_170707.4(LMNA):c.16del (p.Gln6fs)
|
rs1649696391
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del)
|
rs2102901580
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
NM_170707.4(LMNA):c.186dup (p.Ile63fs)
|
rs2102818068
|
|
NM_170707.4(LMNA):c.194A>G (p.Glu65Gly)
|
rs2102818172
|
|
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)
|
rs863225024
|
|
NM_170707.4(LMNA):c.1A>T (p.Met1Leu)
|
rs2102816719
|
|
NM_170707.4(LMNA):c.203A>T (p.Glu68Val)
|
rs2102818240
|
|
NM_170707.4(LMNA):c.205del (p.Val69fs)
|
|
|
NM_170707.4(LMNA):c.210del (p.Ser71fs)
|
rs1649726768
|
|
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter)
|
rs1649727816
|
|
NM_170707.4(LMNA):c.217_239del (p.Glu73fs)
|
|
|
NM_170707.4(LMNA):c.239_256del (p.Ala80_Leu85del)
|
rs1649729767
|
|
NM_170707.4(LMNA):c.241dup (p.Tyr81fs)
|
|
|
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
|
rs59270054
|
|
NM_170707.4(LMNA):c.248_251dup (p.Glu84fs)
|
rs1553261982
|
|
NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)
|
|
|
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)
|
rs59040894
|
|
NM_170707.4(LMNA):c.274del (p.Asp93fs)
|
|
|
NM_170707.4(LMNA):c.275T>C (p.Leu92Pro)
|
rs2102818731
|
|
NM_170707.4(LMNA):c.280T>C (p.Ser94Pro)
|
rs2102818745
|
|
NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter)
|
rs2102818749
|
|
NM_170707.4(LMNA):c.298_299del (p.Ala100fs)
|
rs1649736692
|
|
NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)
|
|
|
NM_170707.4(LMNA):c.333_334delinsAT (p.Glu112Ter)
|
|
|
NM_170707.4(LMNA):c.334G>T (p.Glu112Ter)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.339dup (p.Lys114Ter)
|
rs794728604
|
|
NM_170707.4(LMNA):c.348dup (p.Lys117fs)
|
rs267607646
|
|
NM_170707.4(LMNA):c.356+1G>A
|
rs794728589
|
|
NM_170707.4(LMNA):c.356+2T>A
|
|
|
NM_170707.4(LMNA):c.356+2T>G
|
|
|
NM_170707.4(LMNA):c.357-1G>T
|
rs267607569
|
|
NM_170707.4(LMNA):c.357-2A>G
|
rs113610699
|
|
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
|
|
|
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
|
|
|
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter)
|
rs1553264593
|
|
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)
|
rs60864230
|
|
NM_170707.4(LMNA):c.3G>A (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.3G>T (p.Met1Ile)
|
rs794728598
|
|
NM_170707.4(LMNA):c.40del (p.Ala14fs)
|
|
|
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro)
|
rs2102865805
|
|
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)
|
rs61661343
|
|
NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)
|
|
|
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter)
|
rs2102817088
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170707.4(LMNA):c.450_451del (p.Ala151fs)
|
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter)
|
rs28933093
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)
|
rs1558115754
|
|
NM_170707.4(LMNA):c.526del (p.Ala175_Leu176insTer)
|
rs2102878324
|
|
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)
|
rs1553261855
|
|
NM_170707.4(LMNA):c.535del (p.Ala179fs)
|
|
|
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)
|
rs1651341099
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)
|
rs1553265165
|
|
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)
|
rs1572358860
|
|
NM_170707.4(LMNA):c.603GGA[1] (p.Glu203del)
|
rs1060502210
|
|
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)
|
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.608A>T (p.Glu203Val)
|
rs28933092
|
|
NM_170707.4(LMNA):c.611del (p.Leu204fs)
|
rs1651352665
|
|
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu)
|
rs267607629
|
|
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)
|
rs1085307888
|
|
NM_170707.4(LMNA):c.623_626dup (p.Asn209fs)
|
rs2102879250
|
|
NM_170707.4(LMNA):c.636_637dup (p.Glu213fs)
|
rs2102879360
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)
|
|
|
NM_170707.4(LMNA):c.669_670del (p.Glu223fs)
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)
|
rs727505357
|
|
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)
|
rs57207746
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.705del (p.Glu236fs)
|
rs1651401067
|
|
NM_170707.4(LMNA):c.705dup (p.Glu236Ter)
|
|
|
NM_170707.4(LMNA):c.707del (p.Glu236fs)
|
|
|
NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)
|
|
|
NM_170707.4(LMNA):c.720_730del (p.Leu241fs)
|
|
|
NM_170707.4(LMNA):c.729dup (p.Ala244fs)
|
rs1553265328
|
|
NM_170707.4(LMNA):c.734dup (p.Gln246fs)
|
|
|
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)
|
rs267607587
|
|
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)
|
rs58327533
|
|
NM_170707.4(LMNA):c.73del (p.Arg25fs)
|
rs1558115970
|
|
NM_170707.4(LMNA):c.740_748del (p.Glu247_Arg249del)
|
rs1572359991
|
|
NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)
|
rs1553265342
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.745_746insAT (p.Arg249fs)
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.755dup (p.His252fs)
|
|
|
NM_170707.4(LMNA):c.758_810+70del
|
|
|
NM_170707.4(LMNA):c.763del (p.Gln255fs)
|
rs397517908
|
|
NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)
|
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)
|
rs397517909
|
|
NM_170707.4(LMNA):c.792_793insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGGAGCTGGAG (p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.810+1G>A
|
rs267607632
|
|
NM_170707.4(LMNA):c.810+2T>C
|
rs2102882192
|
|
NM_170707.4(LMNA):c.810+32_1323del
|
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)
|
|
|
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)
|
rs59914820
|
|
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)
|
rs1553265433
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
|
rs886043260
|
|
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys)
|
rs397517912
|
|
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)
|
|
|
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)
|
rs797044758
|
|
NM_170707.4(LMNA):c.893G>C (p.Arg298Pro)
|
rs762653476
|
|
NM_170707.4(LMNA):c.902_905dup (p.Ser303fs)
|
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)
|
rs1228406418
|
|
NM_170707.4(LMNA):c.91_93del (p.Glu31del)
|
rs864309525
|
|
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)
|
rs878855234
|
|
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly)
|
rs1649709575
|
|
NM_170707.4(LMNA):c.934C>T (p.Gln312Ter)
|
rs1651466808
|
|
NM_170707.4(LMNA):c.936+1G>A
|
rs267607588
|
|
NM_170707.4(LMNA):c.937-11C>G
|
rs267607645
|
|
NM_170707.4(LMNA):c.940del (p.Ala314fs)
|
|
|
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)
|
rs1553261891
|
|
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)
|
rs1553261891
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)
|
|
|
NM_170707.4(LMNA):c.958del (p.Leu320fs)
|
rs397517915
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)
|
|
|
NM_170707.4(LMNA):c.973del (p.Asp325fs)
|
|
|
NM_170707.4(LMNA):c.978_979del (p.Leu327fs)
|
rs794728610
|
|
NM_170707.4(LMNA):c.980_995del (p.Leu327fs)
|
rs2102887031
|
|
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)
|
rs1060502211
|
|
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)
|
rs267607614
|
|
NM_170707.4(LMNA):c.991_992del (p.Arg331fs)
|
rs1553265647
|
|
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)
|
rs57966821
|
|
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
|
|
|
NM_181882.3(PRX):c.116_131del (p.Lys39fs)
|
|
|
NM_181882.3(PRX):c.1171del (p.Leu391fs)
|
rs2145731305
|
|
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
|
|
|
NM_181882.3(PRX):c.1574del (p.Val525fs)
|
rs752095452
|
|
NM_181882.3(PRX):c.1657del (p.Glu553fs)
|
|
|
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
|
rs2079441396
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.1999del (p.Leu667fs)
|
|
|
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter)
|
rs1252279085
|
|
NM_181882.3(PRX):c.205C>T (p.Arg69Ter)
|
rs2079467367
|
|
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
|
|
|
NM_181882.3(PRX):c.2289del (p.Asp765fs)
|
rs797045102
|
|
NM_181882.3(PRX):c.2301del (p.Leu768fs)
|
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
|
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs)
|
rs2145727806
|
|
NM_181882.3(PRX):c.2853dup (p.Gly952fs)
|
rs1568704829
|
|
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
|
rs1231723888
|
|
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
|
|
|
NM_181882.3(PRX):c.3098del (p.Thr1033fs)
|
rs2145727241
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.3275del (p.Val1092fs)
|
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
|
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.353del (p.Lys118fs)
|
rs1568710514
|
|
NM_181882.3(PRX):c.458del (p.Pro153fs)
|
rs1599656851
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
|
rs2079456028
|
|
NM_181882.3(PRX):c.627del (p.Ala210fs)
|
rs1599656507
|
|
NM_181882.3(PRX):c.642dup (p.Arg215fs)
|
rs768074428
|
|
NM_181882.3(PRX):c.773_774dup (p.Ser259fs)
|
rs1599656136
|
|