ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Invitae

Included ClinVar conditions (173):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1363
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HGVS dbSNP gnomAD frequency
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

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