ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2743
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02781
NC_000012.12:g.109833413C>T rs56079803 0.02373
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) rs147869920 0.00104
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_030973.4(MED25):c.638T>C (p.Val213Ala) rs144892223 0.00081
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_030973.4(MED25):c.689-3C>T rs199623358 0.00047
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00046
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_001365951.3(KIF1B):c.4925G>A (p.Arg1642Lys) rs190124441 0.00044
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys) rs149990643 0.00040
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_001605.3(AARS1):c.2722-16C>T rs373540049 0.00040
NM_002047.4(GARS1):c.428-17C>T rs370452042 0.00040
NM_001365951.3(KIF1B):c.4356A>G (p.Thr1452=) rs150358670 0.00038
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr) rs142567076 0.00037
NM_002047.4(GARS1):c.1032-15C>T rs201868189 0.00037
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_002047.4(GARS1):c.1904-18T>C rs41275991 0.00036
NM_030973.4(MED25):c.1231-8C>T rs200594031 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_001605.3(AARS1):c.480-9C>T rs376371821 0.00034
NM_001605.3(AARS1):c.966T>C (p.Tyr322=) rs145859060 0.00034
NM_002047.4(GARS1):c.675G>A (p.Leu225=) rs369203473 0.00033
NM_001365951.3(KIF1B):c.2663A>G (p.Lys888Arg) rs147600470 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=) rs145846362 0.00031
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met) rs148383122 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001365951.3(KIF1B):c.3798-17G>A rs369489193 0.00024
NM_001605.3(AARS1):c.1839C>T (p.Phe613=) rs141374386 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_002047.4(GARS1):c.669G>A (p.Gln223=) rs1051323034 0.00024
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys) rs137894161 0.00022
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_030973.4(MED25):c.134+20C>T rs372600662 0.00022
NM_001365951.3(KIF1B):c.4753-9C>T rs375366137 0.00021
NM_001605.3(AARS1):c.2721+8C>T rs577958349 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_030973.4(MED25):c.1002C>T (p.Gly334=) rs142842628 0.00021
NM_001605.3(AARS1):c.2520+19A>G rs376619331 0.00020
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=) rs150411706 0.00019
NM_001365951.3(KIF1B):c.106+10T>A rs368714043 0.00019
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=) rs140229905 0.00019
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.2817G>A (p.Gln939=) rs140048586 0.00019
NM_014874.4(MFN2):c.971-16A>G rs374822911 0.00019
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=) rs150904940 0.00018
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_001365951.3(KIF1B):c.3688+15C>T rs374936352 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.444C>T (p.Thr148=) rs373038884 0.00017
NM_030973.4(MED25):c.1095G>A (p.Pro365=) rs373128874 0.00017
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001365951.3(KIF1B):c.4855C>G (p.Pro1619Ala) rs146177892 0.00016
NM_001365951.3(KIF1B):c.608+14T>G rs151026584 0.00016
NM_001605.3(AARS1):c.2521-10T>C rs199521984 0.00016
NM_001605.3(AARS1):c.480-8T>C rs751472610 0.00016
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00016
NM_014874.4(MFN2):c.1463A>G (p.Asn488Ser) rs147785658 0.00016
NM_014874.4(MFN2):c.2069+16G>A rs376673392 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_001365951.3(KIF1B):c.429+7A>G rs370895789 0.00015
NM_002047.4(GARS1):c.1543G>A (p.Val515Met) rs367589841 0.00015
NM_030973.4(MED25):c.306-10del rs772259172 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=) rs143112560 0.00014
NM_001365951.3(KIF1B):c.4526G>A (p.Arg1509His) rs201477179 0.00014
NM_001365951.3(KIF1B):c.4946+10C>T rs374982816 0.00014
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser) rs748803390 0.00014
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461 0.00014
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.1287+13G>C rs543940912 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu) rs150873930 0.00013
NM_001605.3(AARS1):c.2287-16C>T rs375747367 0.00013
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala) rs370622071 0.00013
NM_001605.3(AARS1):c.480-17C>T rs372467445 0.00013
NM_002047.4(GARS1):c.428-13T>A rs373782750 0.00013
NM_014874.4(MFN2):c.1476C>A (p.Thr492=) rs143428548 0.00013
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.305+17T>G rs763308680 0.00013
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001365951.3(KIF1B):c.1434+9T>C rs770024434 0.00012
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) rs749154726 0.00012
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) rs552529704 0.00012
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782 0.00012
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.962+12G>C rs376863001 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_170707.4(LMNA):c.990G>A (p.Glu330=) rs140800215 0.00012
NM_001122955.4(BSCL2):c.1234+11T>A rs369813738 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001365951.3(KIF1B):c.1770C>T (p.Ser590=) rs139764209 0.00011
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg) rs140015591 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_030973.4(MED25):c.689T>C (p.Val230Ala) rs199982073 0.00011
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00011
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001365951.3(KIF1B):c.3327C>A (p.Asn1109Lys) rs199805720 0.00010
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=) rs777419181 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_001605.3(AARS1):c.962+16A>G rs768846274 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser) rs145654854 0.00010
NM_014874.4(MFN2):c.2112C>T (p.Asp704=) rs374371748 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_030973.4(MED25):c.1377C>T (p.Thr459=) rs374928221 0.00010
NM_030973.4(MED25):c.2181G>A (p.Pro727=) rs775431728 0.00010
NM_001365951.3(KIF1B):c.1716C>T (p.Ser572=) rs369473758 0.00009
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=) rs146436697 0.00009
NM_001605.3(AARS1):c.2182C>T (p.Leu728=) rs761565869 0.00009
NM_001605.3(AARS1):c.2401-16C>T rs372138128 0.00009
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala) rs766897796 0.00009
NM_001605.3(AARS1):c.525C>T (p.Phe175=) rs369147317 0.00009
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652 0.00009
NM_030973.4(MED25):c.181-13C>T rs377070498 0.00009
NM_030973.4(MED25):c.1906C>A (p.Arg636=) rs761434818 0.00009
NM_030973.4(MED25):c.819+15G>A rs772300740 0.00009
NM_030973.4(MED25):c.942C>T (p.Pro314=) rs373971747 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170707.4(LMNA):c.150C>T (p.Arg50=) rs397517894 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_001365951.3(KIF1B):c.3043+7G>A rs759344545 0.00008
NM_001605.3(AARS1):c.1222+7A>T rs200591546 0.00008
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC rs372280293 0.00008
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr) rs141486562 0.00008
NM_001605.3(AARS1):c.1722A>G (p.Leu574=) rs140678149 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=) rs146364486 0.00007
NM_001365951.3(KIF1B):c.405T>C (p.Asn135=) rs201229642 0.00007
NM_001365951.3(KIF1B):c.5409-15G>A rs371830018 0.00007
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001605.3(AARS1):c.1140G>A (p.Val380=) rs149055899 0.00007
NM_001605.3(AARS1):c.1671+7C>T rs747794570 0.00007
NM_001605.3(AARS1):c.1689G>A (p.Val563=) rs536370318 0.00007
NM_001605.3(AARS1):c.2286+18G>A rs780996918 0.00007
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly) rs770697148 0.00007
NM_002047.4(GARS1):c.1149C>T (p.Ser383=) rs369389062 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_014874.4(MFN2):c.1617A>G (p.Glu539=) rs556515947 0.00007
NM_014874.4(MFN2):c.2130G>A (p.Leu710=) rs755608041 0.00007
NM_014874.4(MFN2):c.475-17C>A rs759684850 0.00007
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_030973.4(MED25):c.2146+12C>T rs778556242 0.00007
NM_030973.4(MED25):c.570G>C (p.Ala190=) rs759800230 0.00007
NM_030973.4(MED25):c.825C>T (p.Pro275=) rs771874021 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_170707.4(LMNA):c.1530C>T (p.Thr510=) rs138098342 0.00007
NM_170707.4(LMNA):c.811-18C>G rs766309567 0.00007
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=) rs144774892 0.00006
NM_001365951.3(KIF1B):c.107-8T>A rs749389756 0.00006
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) rs543345616 0.00006
NM_001365951.3(KIF1B):c.3688+10C>T rs755222148 0.00006
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser) rs121908163 0.00006
NM_001365951.3(KIF1B):c.4191G>A (p.Pro1397=) rs374650248 0.00006
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=) rs751386973 0.00006
NM_001605.3(AARS1):c.1344C>T (p.Ala448=) rs920455151 0.00006
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu) rs143844046 0.00006
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile) rs374254987 0.00006
NM_001605.3(AARS1):c.2028G>A (p.Ala676=) rs376280288 0.00006
NM_001605.3(AARS1):c.479+12C>T rs201596086 0.00006
NM_001605.3(AARS1):c.597C>T (p.Asp199=) rs371595834 0.00006
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn) rs764718265 0.00006
NM_001605.3(AARS1):c.951C>T (p.Asn317=) rs763632935 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys) rs773169005 0.00006
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_030973.4(MED25):c.1038G>T (p.Leu346=) rs759964732 0.00006
NM_030973.4(MED25):c.1675-6G>A rs374698299 0.00006
NM_030973.4(MED25):c.1746+17C>T rs376067132 0.00006
NM_030973.4(MED25):c.843T>C (p.Ala281=) rs765788595 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_170707.4(LMNA):c.1968+37C>T rs555070042 0.00006
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001365951.3(KIF1B):c.2829C>T (p.Ala943=) rs745644299 0.00005
NM_001365951.3(KIF1B):c.4755C>T (p.Cys1585=) rs751853543 0.00005
NM_001365951.3(KIF1B):c.4824+20T>A rs776661939 0.00005
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) rs772548887 0.00005
NM_001605.3(AARS1):c.1395G>A (p.Leu465=) rs890095859 0.00005
NM_001605.3(AARS1):c.177A>G (p.Pro59=) rs758674184 0.00005
NM_001605.3(AARS1):c.2025A>G (p.Ala675=) rs745695764 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.2223G>A (p.Thr741=) rs375400530 0.00005
NM_001605.3(AARS1):c.894G>A (p.Leu298=) rs776027503 0.00005
NM_002047.4(GARS1):c.1663A>G (p.Met555Val) rs1023871853 0.00005
NM_002047.4(GARS1):c.1904-19del rs745958570 0.00005
NM_002047.4(GARS1):c.325-9C>G rs770645408 0.00005
NM_002047.4(GARS1):c.333G>A (p.Ala111=) rs762212188 0.00005
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.2204+12C>T rs373553143 0.00005
NM_014874.4(MFN2):c.2259G>A (p.Leu753=) rs1045537458 0.00005
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_030973.4(MED25):c.1785C>T (p.Thr595=) rs530025381 0.00005
NM_030973.4(MED25):c.2146+17G>T rs561588731 0.00005
NM_170707.4(LMNA):c.1803C>T (p.Ser601=) rs267607604 0.00005
NM_170707.4(LMNA):c.357-8T>C rs1053291240 0.00005
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) rs147902831 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=) rs777598096 0.00004
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=) rs375554369 0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=) rs767104988 0.00004
NM_001365951.3(KIF1B):c.1623A>G (p.Pro541=) rs753016667 0.00004
NM_001365951.3(KIF1B):c.1778-5C>T rs567968956 0.00004
NM_001365951.3(KIF1B):c.2676-18G>A rs768886781 0.00004
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) rs200858074 0.00004
NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=) rs748192983 0.00004
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=) rs574168097 0.00004
NM_001365951.3(KIF1B):c.3612G>T (p.Leu1204=) rs759149212 0.00004
NM_001365951.3(KIF1B):c.5096+10A>G rs368859097 0.00004
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) rs572314710 0.00004
NM_001365951.3(KIF1B):c.5364C>T (p.Asn1788=) rs146120509 0.00004
NM_001365951.3(KIF1B):c.690C>T (p.His230=) rs761836784 0.00004
NM_001365951.3(KIF1B):c.753A>C (p.Gly251=) rs537439756 0.00004
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val) rs761208550 0.00004
NM_001605.3(AARS1):c.145-17C>T rs375832841 0.00004
NM_001605.3(AARS1):c.1992+15G>A rs368023282 0.00004
NM_001605.3(AARS1):c.2532G>A (p.Lys844=) rs371712914 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_002047.4(GARS1):c.1032-14G>A rs766263055 0.00004
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1440T>C (p.Leu480=) rs560809761 0.00004
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr) rs750971084 0.00004
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405 0.00004
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925 0.00004
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile) rs201432170 0.00004
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr) rs191270471 0.00004
NM_002047.4(GARS1):c.264A>G (p.Gln88=) rs776884508 0.00004
NM_002047.4(GARS1):c.282A>G (p.Ala94=) rs571004464 0.00004
NM_002047.4(GARS1):c.44C>T (p.Ala15Val) rs758037738 0.00004
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro) rs756664556 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.1288-10T>C rs201151182 0.00004
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met) rs375480365 0.00004
NM_014874.4(MFN2):c.2010C>T (p.Ser670=) rs777640054 0.00004
NM_014874.4(MFN2):c.2069+15C>T rs375924621 0.00004
NM_014874.4(MFN2):c.231C>T (p.Asp77=) rs763489927 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.933C>T (p.Asn311=) rs150857365 0.00004
NM_030973.4(MED25):c.1316+19C>T rs566927009 0.00004
NM_030973.4(MED25):c.1335C>T (p.Pro445=) rs372191174 0.00004
NM_030973.4(MED25):c.1605C>T (p.Asn535=) rs922801210 0.00004
NM_030973.4(MED25):c.1966-12G>C rs754403001 0.00004
NM_030973.4(MED25):c.1989C>T (p.Pro663=) rs762594410 0.00004
NM_030973.4(MED25):c.2046G>A (p.Pro682=) rs755620011 0.00004
NM_030973.4(MED25):c.2071T>C (p.Leu691=) rs75970529 0.00004
NM_030973.4(MED25):c.2147-16C>T rs569169080 0.00004
NM_030973.4(MED25):c.306-9C>T rs1458825800 0.00004
NM_030973.4(MED25):c.342C>T (p.Ile114=) rs367931150 0.00004
NM_030973.4(MED25):c.689-11C>T rs767365955 0.00004
NM_030973.4(MED25):c.810G>A (p.Pro270=) rs369512125 0.00004
NM_030973.4(MED25):c.855G>A (p.Ala285=) rs374949762 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1311C>T (p.Ser437=) rs763224059 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_170707.4(LMNA):c.837G>A (p.Glu279=) rs727505198 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=) rs142016433 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) rs780533531 0.00003
NM_001365951.3(KIF1B):c.1122G>A (p.Glu374=) rs774770887 0.00003
NM_001365951.3(KIF1B):c.156C>T (p.Phe52=) rs764651787 0.00003
NM_001365951.3(KIF1B):c.1867C>T (p.Arg623Cys) rs150271500 0.00003
NM_001365951.3(KIF1B):c.2209+18A>G rs753756818 0.00003
NM_001365951.3(KIF1B):c.2310C>T (p.Ala770=) rs749823391 0.00003
NM_001365951.3(KIF1B):c.2397C>T (p.Tyr799=) rs770641216 0.00003
NM_001365951.3(KIF1B):c.246C>T (p.Leu82=) rs778486443 0.00003
NM_001365951.3(KIF1B):c.2610C>T (p.Ser870=) rs775697231 0.00003
NM_001365951.3(KIF1B):c.2691C>T (p.His897=) rs566526002 0.00003
NM_001365951.3(KIF1B):c.2715C>T (p.Ala905=) rs143046587 0.00003
NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=) rs986716280 0.00003
NM_001365951.3(KIF1B):c.3129+11G>T rs201224213 0.00003
NM_001365951.3(KIF1B):c.3245G>A (p.Arg1082Gln) rs745363423 0.00003
NM_001365951.3(KIF1B):c.3688+11G>A rs535695625 0.00003
NM_001365951.3(KIF1B):c.429+12C>T rs112261441 0.00003
NM_001365951.3(KIF1B):c.4527C>T (p.Arg1509=) rs746940453 0.00003
NM_001365951.3(KIF1B):c.4803C>T (p.His1601=) rs780621329 0.00003
NM_001365951.3(KIF1B):c.4824+10T>C rs964671366 0.00003
NM_001365951.3(KIF1B):c.5442G>A (p.Ser1814=) rs188387287 0.00003
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile) rs762395098 0.00003
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr) rs139618202 0.00003
NM_001605.3(AARS1):c.1221C>T (p.Pro407=) rs199547987 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1348-9T>C rs201538906 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.2046A>G (p.Leu682=) rs757898507 0.00003
NM_001605.3(AARS1):c.2193G>C (p.Ser731=) rs746349849 0.00003
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr) rs377051192 0.00003
NM_001605.3(AARS1):c.2485T>C (p.Leu829=) rs760816488 0.00003
NM_001605.3(AARS1):c.2722-12C>T rs781277357 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_002047.4(GARS1):c.1341A>G (p.Ala447=) rs765984852 0.00003
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926 0.00003
NM_002047.4(GARS1):c.1700-13A>G rs762966640 0.00003
NM_002047.4(GARS1):c.174G>A (p.Ala58=) rs747227947 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.1929A>G (p.Val643=) rs376451704 0.00003
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002047.4(GARS1):c.90C>T (p.Leu30=) rs1057519166 0.00003
NM_014874.4(MFN2):c.1113G>A (p.Ala371=) rs766570486 0.00003
NM_014874.4(MFN2):c.1146G>A (p.Ala382=) rs752630853 0.00003
NM_014874.4(MFN2):c.1392+7C>A rs759251276 0.00003
NM_014874.4(MFN2):c.204C>T (p.Pro68=) rs148399574 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_014874.4(MFN2):c.33C>T (p.Ile11=) rs756450319 0.00003
NM_014874.4(MFN2):c.822G>A (p.Arg274=) rs528330690 0.00003
NM_030973.4(MED25):c.1167C>T (p.Leu389=) rs992676211 0.00003
NM_030973.4(MED25):c.1593C>T (p.Ser531=) rs774774157 0.00003
NM_030973.4(MED25):c.1747-13C>G rs372428025 0.00003
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 0.00003
NM_030973.4(MED25):c.1998C>T (p.Ser666=) rs774172228 0.00003
NM_030973.4(MED25):c.2147-8C>T rs754555048 0.00003
NM_030973.4(MED25):c.2193G>A (p.Pro731=) rs374361800 0.00003
NM_030973.4(MED25):c.600C>T (p.Pro200=) rs753910880 0.00003
NM_030973.4(MED25):c.678C>T (p.Leu226=) rs770604129 0.00003
NM_030973.4(MED25):c.688+16C>T rs536606686 0.00003
NM_030973.4(MED25):c.771C>T (p.Leu257=) rs201142674 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1317C>A (p.Arg439=) rs374804871 0.00003
NM_170707.4(LMNA):c.1362G>A (p.Leu454=) rs151160622 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.1489-9C>T rs374324602 0.00003
NM_170707.4(LMNA):c.1699-7T>C rs771074100 0.00003
NM_170707.4(LMNA):c.1746C>T (p.Arg582=) rs764561834 0.00003
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170707.4(LMNA):c.885G>A (p.Ser295=) rs776999079 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.404+10G>A rs992580580 0.00002
NM_001122955.4(BSCL2):c.404+15C>G rs200598473 0.00002
NM_001122955.4(BSCL2):c.405-20C>T rs778111224 0.00002
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=) rs780093151 0.00002
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) rs1339749955 0.00002
NM_001365951.3(KIF1B):c.1359C>T (p.Gly453=) rs375200009 0.00002
NM_001365951.3(KIF1B):c.1539A>T (p.Gly513=) rs757451919 0.00002
NM_001365951.3(KIF1B):c.1782C>T (p.Ile594=) rs774839409 0.00002
NM_001365951.3(KIF1B):c.1861+9G>A rs1283855085 0.00002
NM_001365951.3(KIF1B):c.1863A>G (p.Gly621=) rs780368055 0.00002
NM_001365951.3(KIF1B):c.2359-17T>C rs779473426 0.00002
NM_001365951.3(KIF1B):c.252C>T (p.His84=) rs757683684 0.00002
NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=) rs773568203 0.00002
NM_001365951.3(KIF1B):c.364-15A>G rs771929965 0.00002
NM_001365951.3(KIF1B):c.3717C>T (p.Ser1239=) rs758483036 0.00002
NM_001365951.3(KIF1B):c.3756C>A (p.Leu1252=) rs1341773631 0.00002
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=) rs754332251 0.00002
NM_001365951.3(KIF1B):c.393T>C (p.Asn131=) rs763247738 0.00002
NM_001365951.3(KIF1B):c.4512+15_4512+16insT rs757288188 0.00002
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=) rs751084365 0.00002
NM_001365951.3(KIF1B):c.4722G>A (p.Leu1574=) rs1417200734 0.00002
NM_001365951.3(KIF1B):c.4947-11C>G rs761028018 0.00002
NM_001365951.3(KIF1B):c.5028A>G (p.Pro1676=) rs761529721 0.00002
NM_001365951.3(KIF1B):c.5097-8G>A rs774748771 0.00002
NM_001365951.3(KIF1B):c.720+8A>G rs751246033 0.00002
NM_001365951.3(KIF1B):c.858C>T (p.Ala286=) rs371416635 0.00002
NM_001365951.3(KIF1B):c.864+17A>G rs528812490 0.00002
NM_001605.3(AARS1):c.145-4T>G rs771322532 0.00002
NM_001605.3(AARS1):c.1704C>T (p.Val568=) rs757658801 0.00002
NM_001605.3(AARS1):c.1881A>G (p.Ser627=) rs1486965038 0.00002
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=) rs754266971 0.00002
NM_001605.3(AARS1):c.2178-17T>C rs758490328 0.00002
NM_001605.3(AARS1):c.2361A>C (p.Pro787=) rs768782095 0.00002
NM_001605.3(AARS1):c.2401-15G>A rs763386228 0.00002
NM_001605.3(AARS1):c.2505C>T (p.Ala835=) rs769571173 0.00002
NM_001605.3(AARS1):c.2547C>T (p.Ile849=) rs746615745 0.00002
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser) rs757295540 0.00002
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val) rs759415214 0.00002
NM_001605.3(AARS1):c.2754G>A (p.Glu918=) rs754523456 0.00002
NM_001605.3(AARS1):c.333+17A>G rs370831078 0.00002
NM_001605.3(AARS1):c.360A>G (p.Glu120=) rs1175499706 0.00002
NM_001605.3(AARS1):c.366C>T (p.Leu122=) rs769023747 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_001605.3(AARS1):c.630T>C (p.Asn210=) rs561149621 0.00002
NM_001605.3(AARS1):c.671+12T>C rs375862322 0.00002
NM_001605.3(AARS1):c.732G>A (p.Leu244=) rs967485459 0.00002
NM_001605.3(AARS1):c.817-7T>C rs770186013 0.00002
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser) rs747142680 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001605.3(AARS1):c.84G>A (p.Ser28=) rs781488034 0.00002
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr) rs751721557 0.00002
NM_002047.4(GARS1):c.108C>T (p.Leu36=) rs1166263515 0.00002
NM_002047.4(GARS1):c.1140C>G (p.Ala380=) rs374980030 0.00002
NM_002047.4(GARS1):c.12G>A (p.Pro4=) rs775650014 0.00002
NM_002047.4(GARS1):c.1533T>C (p.Asp511=) rs1388554818 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002047.4(GARS1):c.1581T>C (p.Ile527=) rs960876782 0.00002
NM_002047.4(GARS1):c.1903+19G>A rs1051143976 0.00002
NM_002047.4(GARS1):c.534C>T (p.Ile178=) rs774732829 0.00002
NM_002047.4(GARS1):c.582T>C (p.His194=) rs753444153 0.00002
NM_002047.4(GARS1):c.786T>C (p.Asn262=) rs886043231 0.00002
NM_014874.4(MFN2):c.1305C>T (p.Ala435=) rs1374507919 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_014874.4(MFN2):c.1836C>G (p.Ser612=) rs779401482 0.00002
NM_014874.4(MFN2):c.1873-4G>C rs369338141 0.00002
NM_014874.4(MFN2):c.2070-20C>T rs776626503 0.00002
NM_014874.4(MFN2):c.2070-4C>G rs762750555 0.00002
NM_014874.4(MFN2):c.2204+14G>A rs757577429 0.00002
NM_014874.4(MFN2):c.311+9T>C rs771439230 0.00002
NM_014874.4(MFN2):c.645G>A (p.Lys215=) rs767693664 0.00002
NM_014874.4(MFN2):c.693C>T (p.Ser231=) rs774356643 0.00002
NM_014874.4(MFN2):c.696C>G (p.Thr232=) rs769923700 0.00002
NM_014874.4(MFN2):c.723C>T (p.Phe241=) rs764912025 0.00002
NM_014874.4(MFN2):c.876G>T (p.Val292=) rs758376405 0.00002
NM_030973.4(MED25):c.1102-10C>T rs775817056 0.00002
NM_030973.4(MED25):c.1212G>A (p.Gly404=) rs781693362 0.00002
NM_030973.4(MED25):c.1278A>T (p.Ser426=) rs1235405156 0.00002
NM_030973.4(MED25):c.1317-9C>T rs370255278 0.00002
NM_030973.4(MED25):c.135-14T>C rs765934196 0.00002
NM_030973.4(MED25):c.180+17C>G rs770514045 0.00002
NM_030973.4(MED25):c.181-7C>T rs1640511 0.00002
NM_030973.4(MED25):c.1950C>T (p.Leu650=) rs749309483 0.00002
NM_030973.4(MED25):c.2163C>T (p.Ser721=) rs749606105 0.00002
NM_030973.4(MED25):c.315C>T (p.Gly105=) rs1441161522 0.00002
NM_030973.4(MED25):c.405-6T>C rs1053967709 0.00002
NM_030973.4(MED25):c.618G>A (p.Pro206=) rs772693264 0.00002
NM_030973.4(MED25):c.688+8C>T rs201112045 0.00002
NM_030973.4(MED25):c.747C>T (p.Pro249=) rs111621037 0.00002
NM_030973.4(MED25):c.81C>T (p.Asn27=) rs761471079 0.00002
NM_030973.4(MED25):c.852C>T (p.Ala284=) rs200117024 0.00002
NM_170707.4(LMNA):c.1038C>T (p.Ala346=) rs1019030652 0.00002
NM_170707.4(LMNA):c.1047G>A (p.Arg349=) rs147015659 0.00002
NM_170707.4(LMNA):c.1071C>T (p.Asp357=) rs376875762 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1157+18C>T rs372021174 0.00002
NM_170707.4(LMNA):c.1158-12C>G rs372934817 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_170707.4(LMNA):c.1190G>A (p.Arg397His) rs747952058 0.00002
NM_170707.4(LMNA):c.1236G>C (p.Gly412=) rs763537103 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1719G>A (p.Ser573=) rs759853354 0.00002
NM_170707.4(LMNA):c.1755C>T (p.Thr585=) rs545752475 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser) rs752598065 0.00002
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556 0.00002
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) rs61578124 0.00002
NM_170707.4(LMNA):c.810+12C>T rs746914371 0.00002
NM_170707.4(LMNA):c.867C>T (p.His289=) rs780415585 0.00002
NM_170707.4(LMNA):c.937-9C>T rs1332011298 0.00002
NM_001122955.4(BSCL2):c.1005+18C>A rs1474695153 0.00001
NM_001122955.4(BSCL2):c.1006-4A>C rs751265217 0.00001
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) rs769021944 0.00001
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) rs746737457 0.00001
NM_001122955.4(BSCL2):c.1153+16C>T rs369798542 0.00001
NM_001122955.4(BSCL2):c.1153+7C>T rs758675404 0.00001
NM_001122955.4(BSCL2):c.1153+8G>A rs372839524 0.00001
NM_001122955.4(BSCL2):c.1234+19C>T rs748453195 0.00001
NM_001122955.4(BSCL2):c.1235-17T>C rs764000384 0.00001
NM_001122955.4(BSCL2):c.1235-4C>T rs775246044 0.00001
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=) rs768646836 0.00001
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=) rs776343859 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) rs376418772 0.00001
NM_001122955.4(BSCL2):c.249C>T (p.Val83=) rs746722132 0.00001
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) rs545775232 0.00001
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) rs200922424 0.00001
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=) rs754001369 0.00001
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=) rs756135904 0.00001
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=) rs267603078 0.00001
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) rs766801709 0.00001
NM_001122955.4(BSCL2):c.487-9C>T rs768857448 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) rs571672404 0.00001
NM_001122955.4(BSCL2):c.631-6C>T rs768294248 0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) rs950978890 0.00001
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) rs773290851 0.00001
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) rs754629431 0.00001
NM_001122955.4(BSCL2):c.843C>T (p.His281=) rs1188344099 0.00001
NM_001122955.4(BSCL2):c.849C>T (p.His283=) rs911982128 0.00001
NM_001122955.4(BSCL2):c.864-6C>T rs1945308147 0.00001
NM_001122955.4(BSCL2):c.864-8T>C rs1373992341 0.00001
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=) rs1346512157 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) rs1350933194 0.00001
NM_001365951.3(KIF1B):c.1005T>C (p.Asp335=) rs777030180 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001365951.3(KIF1B):c.1435-9C>T rs200798756 0.00001
NM_001365951.3(KIF1B):c.1515-5C>T rs776534234 0.00001
NM_001365951.3(KIF1B):c.1590+15T>C rs769267621 0.00001
NM_001365951.3(KIF1B):c.165C>T (p.Ser55=) rs1277944646 0.00001
NM_001365951.3(KIF1B):c.1665T>A (p.Ile555=) rs200760130 0.00001
NM_001365951.3(KIF1B):c.1680A>G (p.Gln560=) rs765720258 0.00001
NM_001365951.3(KIF1B):c.1737G>A (p.Glu579=) rs747880909 0.00001
NM_001365951.3(KIF1B):c.1818C>T (p.Tyr606=) rs760404775 0.00001
NM_001365951.3(KIF1B):c.1836G>A (p.Val612=) rs370014452 0.00001
NM_001365951.3(KIF1B):c.2042+16G>A rs1427727123 0.00001
NM_001365951.3(KIF1B):c.2042+20C>T rs1190683777 0.00001
NM_001365951.3(KIF1B):c.2196A>G (p.Glu732=) rs1308456824 0.00001
NM_001365951.3(KIF1B):c.2202G>A (p.Glu734=) rs761475548 0.00001
NM_001365951.3(KIF1B):c.2209+17G>A rs1651464554 0.00001
NM_001365951.3(KIF1B):c.2283A>C (p.Ser761=) rs1349158879 0.00001
NM_001365951.3(KIF1B):c.2535C>T (p.Leu845=) rs1411529894 0.00001
NM_001365951.3(KIF1B):c.2537+15A>G rs757030966 0.00001
NM_001365951.3(KIF1B):c.2598C>A (p.Ala866=) rs372972101 0.00001
NM_001365951.3(KIF1B):c.2676-7T>C rs774505807 0.00001
NM_001365951.3(KIF1B):c.2703C>T (p.Asn901=) rs753514870 0.00001
NM_001365951.3(KIF1B):c.2724A>C (p.Thr908=) rs1428919885 0.00001
NM_001365951.3(KIF1B):c.2733C>A (p.Pro911=) rs746863711 0.00001
NM_001365951.3(KIF1B):c.2748C>T (p.Ala916=) rs1282913811 0.00001
NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=) rs138353787 0.00001
NM_001365951.3(KIF1B):c.2886G>A (p.Pro962=) rs763515223 0.00001
NM_001365951.3(KIF1B):c.2925-20C>T rs777092549 0.00001
NM_001365951.3(KIF1B):c.2958C>T (p.Pro986=) rs369616673 0.00001
NM_001365951.3(KIF1B):c.3039C>T (p.Ile1013=) rs781205034 0.00001
NM_001365951.3(KIF1B):c.3130-20T>C rs570479803 0.00001
NM_001365951.3(KIF1B):c.3156T>C (p.Thr1052=) rs758814481 0.00001
NM_001365951.3(KIF1B):c.3280C>T (p.Leu1094=) rs1035683321 0.00001
NM_001365951.3(KIF1B):c.345G>A (p.Gln115=) rs1647936052 0.00001
NM_001365951.3(KIF1B):c.3514-10T>A rs1303469727 0.00001
NM_001365951.3(KIF1B):c.3534A>G (p.Glu1178=) rs1265416063 0.00001
NM_001365951.3(KIF1B):c.3582T>C (p.Phe1194=) rs1459410102 0.00001
NM_001365951.3(KIF1B):c.3630C>T (p.Asn1210=) rs910542787 0.00001
NM_001365951.3(KIF1B):c.3632+16G>A rs754113976 0.00001
NM_001365951.3(KIF1B):c.364-13T>G rs773130922 0.00001
NM_001365951.3(KIF1B):c.3711G>A (p.Thr1237=) rs766041029 0.00001
NM_001365951.3(KIF1B):c.3798-9A>G rs1173696086 0.00001
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=) rs746980680 0.00001
NM_001365951.3(KIF1B):c.3949+9G>A rs758193519 0.00001
NM_001365951.3(KIF1B):c.4055+10C>T rs559939407 0.00001
NM_001365951.3(KIF1B):c.4095G>A (p.Leu1365=) rs770027202 0.00001
NM_001365951.3(KIF1B):c.429+8C>T rs756538021 0.00001
NM_001365951.3(KIF1B):c.4304+12A>G rs769354139 0.00001
NM_001365951.3(KIF1B):c.432G>A (p.Val144=) rs1252261304 0.00001
NM_001365951.3(KIF1B):c.4512+8G>A rs1203024685 0.00001
NM_001365951.3(KIF1B):c.4776T>A (p.Thr1592=) rs757529397 0.00001
NM_001365951.3(KIF1B):c.5097-11G>T rs765592840 0.00001
NM_001365951.3(KIF1B):c.5289+12C>T rs777701100 0.00001
NM_001365951.3(KIF1B):c.5289+15G>A rs746880888 0.00001
NM_001365951.3(KIF1B):c.531T>C (p.Tyr177=) rs769619599 0.00001
NM_001365951.3(KIF1B):c.5408+16G>A rs1444483640 0.00001
NM_001365951.3(KIF1B):c.5408+8G>A rs374713551 0.00001
NM_001365951.3(KIF1B):c.5409-16C>T rs781661292 0.00001
NM_001365951.3(KIF1B):c.5409-4A>G rs904332359 0.00001
NM_001365951.3(KIF1B):c.564C>T (p.Ser188=) rs774503326 0.00001
NM_001365951.3(KIF1B):c.609-10G>A rs1648575016 0.00001
NM_001365951.3(KIF1B):c.609-6A>C rs1276227203 0.00001
NM_001365951.3(KIF1B):c.666G>A (p.Thr222=) rs1648578056 0.00001
NM_001365951.3(KIF1B):c.721-15A>G rs755866386 0.00001
NM_001365951.3(KIF1B):c.721-18G>A rs770340038 0.00001
NM_001365951.3(KIF1B):c.798+16A>G rs938999422 0.00001
NM_001365951.3(KIF1B):c.798+8T>C rs373158213 0.00001
NM_001365951.3(KIF1B):c.81C>T (p.Ile27=) rs142464329 0.00001
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=) rs141637645 0.00001
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=) rs753317193 0.00001
NM_001605.3(AARS1):c.1008T>C (p.His336=) rs1374423400 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1230T>C (p.Thr410=) rs748544878 0.00001
NM_001605.3(AARS1):c.1284T>A (p.Ile428=) rs1210163050 0.00001
NM_001605.3(AARS1):c.1302G>A (p.Leu434=) rs752566988 0.00001
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile) rs561137479 0.00001
NM_001605.3(AARS1):c.1347+10T>C rs1424574012 0.00001
NM_001605.3(AARS1):c.1398C>T (p.Asp466=) rs770132954 0.00001
NM_001605.3(AARS1):c.1419C>G (p.Leu473=) rs375571275 0.00001
NM_001605.3(AARS1):c.1437G>A (p.Glu479=) rs751074806 0.00001
NM_001605.3(AARS1):c.1493-10C>T rs529835734 0.00001
NM_001605.3(AARS1):c.1533G>A (p.Arg511=) rs375230340 0.00001
NM_001605.3(AARS1):c.1536G>A (p.Glu512=) rs774309980 0.00001
NM_001605.3(AARS1):c.1554G>A (p.Glu518=) rs746835558 0.00001
NM_001605.3(AARS1):c.1578A>G (p.Gly526=) rs376138540 0.00001
NM_001605.3(AARS1):c.1650G>A (p.Lys550=) rs770856423 0.00001
NM_001605.3(AARS1):c.1672-10C>T rs1245852151 0.00001
NM_001605.3(AARS1):c.1672-5C>T rs371238822 0.00001
NM_001605.3(AARS1):c.1672-7C>G rs1294076779 0.00001
NM_001605.3(AARS1):c.1785+16G>C rs375451856 0.00001
NM_001605.3(AARS1):c.1882T>C (p.Leu628=) rs200896501 0.00001
NM_001605.3(AARS1):c.1962G>A (p.Glu654=) rs1291557995 0.00001
NM_001605.3(AARS1):c.1992+11C>T rs756739953 0.00001
NM_001605.3(AARS1):c.1992+14C>T rs945873486 0.00001
NM_001605.3(AARS1):c.1993-9G>C rs1410746723 0.00001
NM_001605.3(AARS1):c.1995C>T (p.Ala665=) rs754212203 0.00001
NM_001605.3(AARS1):c.2017C>T (p.Leu673=) rs762839576 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_001605.3(AARS1):c.2079T>C (p.Pro693=) rs766834986 0.00001
NM_001605.3(AARS1):c.2103C>T (p.Val701=) rs1476539357 0.00001
NM_001605.3(AARS1):c.2106G>A (p.Pro702=) rs746709009 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2112C>T (p.Ser704=) rs936240936 0.00001
NM_001605.3(AARS1):c.2119C>T (p.Leu707=) rs1597435214 0.00001
NM_001605.3(AARS1):c.2130C>T (p.Pro710=) rs780604407 0.00001
NM_001605.3(AARS1):c.2154T>G (p.Thr718=) rs1410315443 0.00001
NM_001605.3(AARS1):c.2178-7C>T rs773114681 0.00001
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala) rs139720461 0.00001
NM_001605.3(AARS1):c.2199T>C (p.His733=) rs781647738 0.00001
NM_001605.3(AARS1):c.2238C>T (p.Ala746=) rs767405300 0.00001
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu) rs373664027 0.00001
NM_001605.3(AARS1):c.2385C>T (p.Ile795=) rs1283711323 0.00001
NM_001605.3(AARS1):c.2400+8C>T rs113824201 0.00001
NM_001605.3(AARS1):c.2401-17T>C rs1200891254 0.00001
NM_001605.3(AARS1):c.2403C>G (p.Ala801=) rs771133578 0.00001
NM_001605.3(AARS1):c.2409C>T (p.Ala803=) rs1329271301 0.00001
NM_001605.3(AARS1):c.2412T>C (p.Thr804=) rs761717573 0.00001
NM_001605.3(AARS1):c.2521-5T>G rs1555539335 0.00001
NM_001605.3(AARS1):c.2535G>A (p.Thr845=) rs770634653 0.00001
NM_001605.3(AARS1):c.2608-17C>T rs955702969 0.00001
NM_001605.3(AARS1):c.2611C>T (p.Leu871=) rs777889928 0.00001
NM_001605.3(AARS1):c.2835T>C (p.Val945=) rs1192286853 0.00001
NM_001605.3(AARS1):c.288C>T (p.Thr96=) rs1373682530 0.00001
NM_001605.3(AARS1):c.417C>T (p.Gly139=) rs758260278 0.00001
NM_001605.3(AARS1):c.498C>T (p.Ile166=) rs999924082 0.00001
NM_001605.3(AARS1):c.540C>T (p.Asp180=) rs1486931495 0.00001
NM_001605.3(AARS1):c.549C>G (p.Pro183=) rs749065539 0.00001
NM_001605.3(AARS1):c.576C>T (p.Tyr192=) rs930696946 0.00001
NM_001605.3(AARS1):c.634C>T (p.Leu212=) rs777378111 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.642C>A (p.Ile214=) rs758977241 0.00001
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058 0.00001
NM_001605.3(AARS1):c.751C>T (p.Leu251=) rs375106256 0.00001
NM_001605.3(AARS1):c.816+10C>G rs780413612 0.00001
NM_001605.3(AARS1):c.817-20C>T rs761335139 0.00001
NM_001605.3(AARS1):c.817-4A>G rs746210439 0.00001
NM_001605.3(AARS1):c.81C>T (p.His27=) rs750765656 0.00001
NM_001605.3(AARS1):c.837C>T (p.Tyr279=) rs201865481 0.00001
NM_001605.3(AARS1):c.864C>T (p.Ala288=) rs765247500 0.00001
NM_001605.3(AARS1):c.919G>A (p.Val307Met) rs1316227824 0.00001
NM_001605.3(AARS1):c.957G>A (p.Gly319=) rs762546700 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_001605.3(AARS1):c.963-6T>C rs768897279 0.00001
NM_001605.3(AARS1):c.9T>G (p.Ser3=) rs539360231 0.00001
NM_002047.4(GARS1):c.1031+9del rs746178135 0.00001
NM_002047.4(GARS1):c.1059C>T (p.His353=) rs886062273 0.00001
NM_002047.4(GARS1):c.1107A>C (p.Ala369=) rs1562777680 0.00001
NM_002047.4(GARS1):c.114G>T (p.Ala38=) rs764791266 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1195-19T>C rs377525562 0.00001
NM_002047.4(GARS1):c.1254G>A (p.Thr418=) rs552538763 0.00001
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe) rs774169230 0.00001
NM_002047.4(GARS1):c.1613+7T>C rs374795892 0.00001
NM_002047.4(GARS1):c.162C>T (p.Ser54=) rs758434035 0.00001
NM_002047.4(GARS1):c.1700-17T>C rs775676664 0.00001
NM_002047.4(GARS1):c.1782T>C (p.His594=) rs762072215 0.00001
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala) rs373694973 0.00001
NM_002047.4(GARS1):c.1809+16C>T rs752229312 0.00001
NM_002047.4(GARS1):c.1836T>G (p.Ala612=) rs759595437 0.00001
NM_002047.4(GARS1):c.1854C>T (p.Val618=) rs1783234008 0.00001
NM_002047.4(GARS1):c.1996G>A (p.Val666Met) rs544634101 0.00001
NM_002047.4(GARS1):c.2064C>T (p.Asp688=) rs528105619 0.00001
NM_002047.4(GARS1):c.207A>G (p.Leu69=) rs891212642 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.2205G>A (p.Glu735=) rs746553499 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.234G>A (p.Val78=) rs376199921 0.00001
NM_002047.4(GARS1):c.300C>G (p.Ala100=) rs781432743 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.427+12A>G rs1171383899 0.00001
NM_002047.4(GARS1):c.427+14G>T rs1451264630 0.00001
NM_002047.4(GARS1):c.492C>G (p.Thr164=) rs368297381 0.00001
NM_002047.4(GARS1):c.507T>C (p.Phe169=) rs1791368083 0.00001
NM_002047.4(GARS1):c.585A>T (p.Val195=) rs1272746326 0.00001
NM_002047.4(GARS1):c.615C>T (p.Asp205=) rs370008019 0.00001
NM_002047.4(GARS1):c.658+17C>T rs761669283 0.00001
NM_002047.4(GARS1):c.723T>C (p.Ser241=) rs767839744 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_002047.4(GARS1):c.804T>C (p.Thr268=) rs774076531 0.00001
NM_002047.4(GARS1):c.881+20T>C rs781026645 0.00001
NM_014874.4(MFN2):c.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1086G>A (p.Thr362=) rs749652300 0.00001
NM_014874.4(MFN2):c.1161-7C>T rs1414918598 0.00001
NM_014874.4(MFN2):c.1170C>T (p.Cys390=) rs1639292680 0.00001
NM_014874.4(MFN2):c.117C>A (p.Ile39=) rs1288073943 0.00001
NM_014874.4(MFN2):c.1191G>A (p.Arg397=) rs758952131 0.00001
NM_014874.4(MFN2):c.120T>C (p.Asn40=) rs756467977 0.00001
NM_014874.4(MFN2):c.1293G>T (p.Ser431=) rs751915674 0.00001
NM_014874.4(MFN2):c.1338C>T (p.Asp446=) rs376300393 0.00001
NM_014874.4(MFN2):c.1374C>G (p.Val458=) rs760253679 0.00001
NM_014874.4(MFN2):c.1393-14T>A rs779242620 0.00001
NM_014874.4(MFN2):c.1413G>A (p.Glu471=) rs745360979 0.00001
NM_014874.4(MFN2):c.1605T>C (p.Ala535=) rs575884069 0.00001
NM_014874.4(MFN2):c.1717-12T>G rs757942090 0.00001
NM_014874.4(MFN2):c.1717-15T>C rs752294693 0.00001
NM_014874.4(MFN2):c.1717-17C>T rs765243288 0.00001
NM_014874.4(MFN2):c.175+12C>A rs186824858 0.00001
NM_014874.4(MFN2):c.176-4C>T rs546254672 0.00001
NM_014874.4(MFN2):c.1770A>G (p.Pro590=) rs776537176 0.00001
NM_014874.4(MFN2):c.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.1824C>T (p.Ala608=) rs774988978 0.00001
NM_014874.4(MFN2):c.1872+20C>T rs549245117 0.00001
NM_014874.4(MFN2):c.1873-14C>G rs770138133 0.00001
NM_014874.4(MFN2):c.1908C>G (p.Leu636=) rs540183905 0.00001
NM_014874.4(MFN2):c.1971G>A (p.Lys657=) rs764308150 0.00001
NM_014874.4(MFN2):c.1986G>A (p.Lys662=) rs1260208756 0.00001
NM_014874.4(MFN2):c.2016G>A (p.Lys672=) rs187058104 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2069+10C>T rs1243140256 0.00001
NM_014874.4(MFN2):c.2069+9C>T rs760838540 0.00001
NM_014874.4(MFN2):c.2160A>G (p.Lys720=) rs769855660 0.00001
NM_014874.4(MFN2):c.2204+10G>T rs1445631790 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_014874.4(MFN2):c.2253G>A (p.Gln751=) rs948203067 0.00001
NM_014874.4(MFN2):c.311+8C>T rs747730092 0.00001
NM_014874.4(MFN2):c.312-19A>G rs756393202 0.00001
NM_014874.4(MFN2):c.315G>A (p.Thr105=) rs75138257 0.00001
NM_014874.4(MFN2):c.49A>G (p.Asn17Asp) rs772477199 0.00001
NM_014874.4(MFN2):c.525C>T (p.Ala175=) rs751505990 0.00001
NM_014874.4(MFN2):c.558T>C (p.Ser186=) rs1280915201 0.00001
NM_014874.4(MFN2):c.582C>T (p.Asp194=) rs772441576 0.00001
NM_014874.4(MFN2):c.585C>T (p.Leu195=) rs200719689 0.00001
NM_014874.4(MFN2):c.600-7C>T rs1173229373 0.00001
NM_014874.4(MFN2):c.709-9T>C rs776259256 0.00001
NM_014874.4(MFN2):c.78A>G (p.Ala26=) rs764662159 0.00001
NM_014874.4(MFN2):c.817-7G>A rs769298272 0.00001
NM_014874.4(MFN2):c.84A>C (p.Pro28=) rs554067157 0.00001
NM_014874.4(MFN2):c.852C>T (p.Phe284=) rs1420158447 0.00001
NM_014874.4(MFN2):c.945G>A (p.Gln315=) rs1569852176 0.00001
NM_014874.4(MFN2):c.963T>G (p.Pro321=) rs1464024708 0.00001
NM_030973.4(MED25):c.1047T>C (p.Thr349=) rs1256377019 0.00001
NM_030973.4(MED25):c.1053C>G (p.Ala351=) rs760698791 0.00001
NM_030973.4(MED25):c.1080A>C (p.Ala360=) rs1378976996 0.00001
NM_030973.4(MED25):c.1086C>T (p.Pro362=) rs780086993 0.00001
NM_030973.4(MED25):c.1102-9C>T rs747438443 0.00001
NM_030973.4(MED25):c.1170T>A (p.Gly390=) rs755612050 0.00001
NM_030973.4(MED25):c.1209C>T (p.Ser403=) rs954895925 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.135-4A>G rs765245928 0.00001
NM_030973.4(MED25):c.135-9C>T rs764466098 0.00001
NM_030973.4(MED25):c.1374+10G>A rs768381941 0.00001
NM_030973.4(MED25):c.1375-20G>A rs755187047 0.00001
NM_030973.4(MED25):c.1375-4G>A rs372057910 0.00001
NM_030973.4(MED25):c.1375-5C>T rs368189393 0.00001
NM_030973.4(MED25):c.1437C>T (p.Asp479=) rs1484444238 0.00001
NM_030973.4(MED25):c.1476C>T (p.Asn492=) rs750836603 0.00001
NM_030973.4(MED25):c.1527C>T (p.Arg509=) rs756350936 0.00001
NM_030973.4(MED25):c.1584C>T (p.Tyr528=) rs776192919 0.00001
NM_030973.4(MED25):c.1675-18C>T rs2074089100 0.00001
NM_030973.4(MED25):c.1675-4G>A rs1202670954 0.00001
NM_030973.4(MED25):c.1746+10G>A rs777447509 0.00001
NM_030973.4(MED25):c.1747-15G>C rs1253524565 0.00001
NM_030973.4(MED25):c.1824A>G (p.Gln608=) rs756851712 0.00001
NM_030973.4(MED25):c.1899C>T (p.Pro633=) rs1225715903 0.00001
NM_030973.4(MED25):c.189G>T (p.Gly63=) rs770307133 0.00001
NM_030973.4(MED25):c.1959A>G (p.Pro653=) rs757384751 0.00001
NM_030973.4(MED25):c.1968G>A (p.Pro656=) rs370950491 0.00001
NM_030973.4(MED25):c.1971G>A (p.Gln657=) rs746754098 0.00001
NM_030973.4(MED25):c.2043G>A (p.Pro681=) rs762374581 0.00001
NM_030973.4(MED25):c.2115C>T (p.Pro705=) rs542955462 0.00001
NM_030973.4(MED25):c.213C>T (p.Phe71=) rs745454610 0.00001
NM_030973.4(MED25):c.2226C>T (p.Ile742=) rs921978271 0.00001
NM_030973.4(MED25):c.255C>T (p.His85=) rs1009581878 0.00001
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe) rs549136898 0.00001
NM_030973.4(MED25):c.339C>T (p.Leu113=) rs772212895 0.00001
NM_030973.4(MED25):c.384C>T (p.Phe128=) rs1204577575 0.00001
NM_030973.4(MED25):c.432C>A (p.Leu144=) rs150534771 0.00001
NM_030973.4(MED25):c.447C>T (p.Pro149=) rs543246660 0.00001
NM_030973.4(MED25):c.456G>A (p.Leu152=) rs1457594431 0.00001
NM_030973.4(MED25):c.480G>A (p.Thr160=) rs753591952 0.00001
NM_030973.4(MED25):c.526-16G>A rs756139455 0.00001
NM_030973.4(MED25):c.526-4A>G rs1302269788 0.00001
NM_030973.4(MED25):c.651G>A (p.Pro217=) rs532875863 0.00001
NM_030973.4(MED25):c.688+20C>T rs763013887 0.00001
NM_030973.4(MED25):c.801C>T (p.Pro267=) rs779737748 0.00001
NM_030973.4(MED25):c.820-14C>G rs1252422114 0.00001
NM_030973.4(MED25):c.908-17C>T rs778037401 0.00001
NM_030973.4(MED25):c.912G>A (p.Ser304=) rs1407395842 0.00001
NM_030973.4(MED25):c.954C>T (p.Pro318=) rs554447029 0.00001
NM_030973.4(MED25):c.9C>T (p.Pro3=) rs1362017240 0.00001
NM_170707.4(LMNA):c.1011G>C (p.Leu337=) rs753179748 0.00001
NM_170707.4(LMNA):c.1092C>T (p.Asp364=) rs776589077 0.00001
NM_170707.4(LMNA):c.1128C>T (p.Tyr376=) rs1288715374 0.00001
NM_170707.4(LMNA):c.1138T>C (p.Leu380=) rs1215331296 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+15C>T rs761166147 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.1158-19T>G rs1396003520 0.00001
NM_170707.4(LMNA):c.1182C>T (p.Thr394=) rs1409406468 0.00001
NM_170707.4(LMNA):c.1200C>T (p.Gly400=) rs770727928 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1380+14C>T rs924435877 0.00001
NM_170707.4(LMNA):c.1380+8C>T rs770058244 0.00001
NM_170707.4(LMNA):c.1381-4G>T rs752880523 0.00001
NM_170707.4(LMNA):c.1389C>T (p.Ser463=) rs1433379020 0.00001
NM_170707.4(LMNA):c.147G>A (p.Val49=) rs376196924 0.00001
NM_170707.4(LMNA):c.1488+15G>A rs371380638 0.00001
NM_170707.4(LMNA):c.1521C>T (p.Ser507=) rs1279083468 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1590C>T (p.Leu530=) rs747338820 0.00001
NM_170707.4(LMNA):c.1605G>A (p.Gly535=) rs769398087 0.00001
NM_170707.4(LMNA):c.1608+17C>T rs759375162 0.00001
NM_170707.4(LMNA):c.1609-12T>C rs267607582 0.00001
NM_170707.4(LMNA):c.1641G>T (p.Val547=) rs947366975 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1680C>T (p.Asp560=) rs17847249 0.00001
NM_170707.4(LMNA):c.1692C>T (p.His564=) rs1215740582 0.00001
NM_170707.4(LMNA):c.1699-10C>A rs980347866 0.00001
NM_170707.4(LMNA):c.1699-15T>C rs1234495387 0.00001
NM_170707.4(LMNA):c.1699-4C>T rs1394491459 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1764C>T (p.Cys588=) rs759016336 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1782T>C (p.Pro594=) rs1240036524 0.00001
NM_170707.4(LMNA):c.1785C>T (p.Ala595=) rs748139390 0.00001
NM_170707.4(LMNA):c.1863G>A (p.Thr621=) rs749999967 0.00001
NM_170707.4(LMNA):c.1890G>A (p.Gly630=) rs770389147 0.00001
NM_170707.4(LMNA):c.1969-4T>C rs751715969 0.00001
NM_170707.4(LMNA):c.240C>T (p.Ala80=) rs780194620 0.00001
NM_170707.4(LMNA):c.339T>C (p.Phe113=) rs759878335 0.00001
NM_170707.4(LMNA):c.356+18G>T rs764535819 0.00001
NM_170707.4(LMNA):c.357-13C>A rs1264489096 0.00001
NM_170707.4(LMNA):c.357-19T>C rs757689089 0.00001
NM_170707.4(LMNA):c.366G>A (p.Lys122=) rs1650968214 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.42G>A (p.Ala14=) rs777460187 0.00001
NM_170707.4(LMNA):c.477G>A (p.Glu159=) rs1424758064 0.00001
NM_170707.4(LMNA):c.480C>A (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.498G>A (p.Arg166=) rs886043189 0.00001
NM_170707.4(LMNA):c.513+12C>A rs756758566 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.540G>A (p.Lys180=) rs1437725392 0.00001
NM_170707.4(LMNA):c.573G>A (p.Val191=) rs754525930 0.00001
NM_170707.4(LMNA):c.606G>A (p.Glu202=) rs963378138 0.00001
NM_170707.4(LMNA):c.640-11A>C rs727504932 0.00001
NM_170707.4(LMNA):c.640-8C>G rs1265858848 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.678G>A (p.Leu226=) rs964377328 0.00001
NM_170707.4(LMNA):c.681G>A (p.Val227=) rs769896881 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.771G>A (p.Glu257=) rs1471649557 0.00001
NM_170707.4(LMNA):c.811-8C>T rs780929524 0.00001
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00001
NM_170707.4(LMNA):c.936+19C>T rs201664413 0.00001
NM_170707.4(LMNA):c.936+7C>T rs757401091 0.00001
NM_170707.4(LMNA):c.93G>A (p.Glu31=) rs878855235 0.00001
NM_170707.4(LMNA):c.954G>A (p.Ala318=) rs397517914 0.00001
NM_170707.4(LMNA):c.966C>T (p.Asp322=) rs1003803799 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NC_000001.11:g.156115286C>T
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001122955.4(BSCL2):c.1005+11_1005+16del
NM_001122955.4(BSCL2):c.1005+14A>G
NM_001122955.4(BSCL2):c.1005+15G>T
NM_001122955.4(BSCL2):c.1005+16G>A
NM_001122955.4(BSCL2):c.1005+19C>T
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1005+8G>T rs864622631
NM_001122955.4(BSCL2):c.1006-20C>T
NM_001122955.4(BSCL2):c.1006-8C>T rs1057521013
NM_001122955.4(BSCL2):c.1014C>A (p.Ile338=)
NM_001122955.4(BSCL2):c.1014C>T (p.Ile338=)
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
NM_001122955.4(BSCL2):c.1072+16G>C
NM_001122955.4(BSCL2):c.1072+7dup rs1554982976
NM_001122955.4(BSCL2):c.1073-14C>T rs759489687
NM_001122955.4(BSCL2):c.1073-16C>G
NM_001122955.4(BSCL2):c.1073-16C>T
NM_001122955.4(BSCL2):c.1073-16del
NM_001122955.4(BSCL2):c.1073-8A>T rs2134690260
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) rs2134689968
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) rs150914934
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
NM_001122955.4(BSCL2):c.1153+12C>T
NM_001122955.4(BSCL2):c.1154-13C>T
NM_001122955.4(BSCL2):c.1154-14C>A
NM_001122955.4(BSCL2):c.1154-20C>T
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=) rs563653317
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
NM_001122955.4(BSCL2):c.1234+19C>A
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) rs1945277080
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) rs1945274691
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) rs1426557167
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) rs2134688373
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) rs1590867827
NM_001122955.4(BSCL2):c.219C>G (p.Ala73=)
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) rs2083512739
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) rs2134740784
NM_001122955.4(BSCL2):c.270G>A (p.Arg90=)
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=) rs572867847
NM_001122955.4(BSCL2):c.276G>A (p.Leu92=)
NM_001122955.4(BSCL2):c.294C>T (p.Leu98=)
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) rs1590885150
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) rs1590885075
NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=)
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
NM_001122955.4(BSCL2):c.404+11C>A
NM_001122955.4(BSCL2):c.404+11C>G rs375818964
NM_001122955.4(BSCL2):c.404+11C>T
NM_001122955.4(BSCL2):c.404+14_404+16del
NM_001122955.4(BSCL2):c.404+16T>C
NM_001122955.4(BSCL2):c.404+17A>G
NM_001122955.4(BSCL2):c.405-16del
NM_001122955.4(BSCL2):c.405-19C>G
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.405-7C>T rs1554985037
NM_001122955.4(BSCL2):c.456T>C (p.Asn152=)
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=) rs2134729590
NM_001122955.4(BSCL2):c.486+7A>G rs1554984999
NM_001122955.4(BSCL2):c.486+8T>G rs1238731769
NM_001122955.4(BSCL2):c.487-19T>C
NM_001122955.4(BSCL2):c.487-4G>A
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) rs1590873161
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.507G>T (p.Pro169=) rs145393127
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=) rs753309219
NM_001122955.4(BSCL2):c.549G>A (p.Val183=)
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=) rs1590872981
NM_001122955.4(BSCL2):c.618T>C (p.Thr206=)
NM_001122955.4(BSCL2):c.630+12_630+14del rs1045195404
NM_001122955.4(BSCL2):c.630+15C>G
NM_001122955.4(BSCL2):c.631-13C>T
NM_001122955.4(BSCL2):c.631-14C>T
NM_001122955.4(BSCL2):c.631-6C>G rs768294248
NM_001122955.4(BSCL2):c.631-7C>A rs1945347921
NM_001122955.4(BSCL2):c.631-9C>G
NM_001122955.4(BSCL2):c.631-9C>T rs1245552202
NM_001122955.4(BSCL2):c.633G>A (p.Val211=)
NM_001122955.4(BSCL2):c.633G>T (p.Val211=)
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=) rs2134696441
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=) rs2134696423
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
NM_001122955.4(BSCL2):c.735G>A (p.Val245=)
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
NM_001122955.4(BSCL2):c.759G>A (p.Glu253=)
NM_001122955.4(BSCL2):c.765+7G>C
NM_001122955.4(BSCL2):c.766-10C>G rs367716875
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) rs746544677
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=) rs1590870663
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.813C>T (p.Ile271=)
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)
NM_001122955.4(BSCL2):c.819G>A (p.Leu273=)
NM_001122955.4(BSCL2):c.837C>T (p.Arg279=)
NM_001122955.4(BSCL2):c.863+10del rs2134695116
NM_001122955.4(BSCL2):c.863+14T>C
NM_001122955.4(BSCL2):c.864-13C>A
NM_001122955.4(BSCL2):c.864-9del
NM_001122955.4(BSCL2):c.873A>G (p.Leu291=)
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=)
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
NM_001122955.4(BSCL2):c.897C>G (p.Ala299=)
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=) rs2134692099
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=) rs1590869477
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) rs1158119987
NM_001122955.4(BSCL2):c.984C>G (p.Pro328=)
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001365951.3(KIF1B):c.1008C>T (p.Ile336=)
NM_001365951.3(KIF1B):c.1020G>A (p.Glu340=)
NM_001365951.3(KIF1B):c.1037+11T>C
NM_001365951.3(KIF1B):c.1037+16C>G
NM_001365951.3(KIF1B):c.1037+7dup
NM_001365951.3(KIF1B):c.1038-18T>C
NM_001365951.3(KIF1B):c.1038-20A>C
NM_001365951.3(KIF1B):c.1044A>G (p.Ala348=) rs2102225536
NM_001365951.3(KIF1B):c.106+19C>T
NM_001365951.3(KIF1B):c.1065A>G (p.Lys355=)
NM_001365951.3(KIF1B):c.107-15A>G
NM_001365951.3(KIF1B):c.107-16C>T
NM_001365951.3(KIF1B):c.107-19A>C
NM_001365951.3(KIF1B):c.107-4C>T
NM_001365951.3(KIF1B):c.1152T>C (p.Arg384=) rs2102225734
NM_001365951.3(KIF1B):c.1173T>C (p.Ile391=) rs1649213355
NM_001365951.3(KIF1B):c.117C>T (p.Asn39=) rs2102181683
NM_001365951.3(KIF1B):c.126T>C (p.Asn42=)
NM_001365951.3(KIF1B):c.1281C>A (p.Arg427=)
NM_001365951.3(KIF1B):c.1283C>G (p.Pro428Arg)
NM_001365951.3(KIF1B):c.1283C>T (p.Pro428Leu)
NM_001365951.3(KIF1B):c.1288C>T (p.His430Tyr)
NM_001365951.3(KIF1B):c.1305C>T (p.Ser435=) rs1649454373
NM_001365951.3(KIF1B):c.1323A>T (p.Ser441=) rs2102232709
NM_001365951.3(KIF1B):c.1329A>G (p.Pro443=)
NM_001365951.3(KIF1B):c.1383A>G (p.Gln461=) rs1649460480
NM_001365951.3(KIF1B):c.1434+9T>G rs770024434
NM_001365951.3(KIF1B):c.1435-11T>G rs375781577
NM_001365951.3(KIF1B):c.1435-14G>A
NM_001365951.3(KIF1B):c.1435-6C>T
NM_001365951.3(KIF1B):c.1446G>A (p.Lys482=)
NM_001365951.3(KIF1B):c.1482G>A (p.Lys494=)
NM_001365951.3(KIF1B):c.1514+13A>T
NM_001365951.3(KIF1B):c.1514+17C>A
NM_001365951.3(KIF1B):c.1514+17C>T
NM_001365951.3(KIF1B):c.1515-18T>G rs375149695
NM_001365951.3(KIF1B):c.1524G>A (p.Leu508=)
NM_001365951.3(KIF1B):c.1533G>A (p.Glu511=)
NM_001365951.3(KIF1B):c.1554A>G (p.Glu518=) rs2102249352
NM_001365951.3(KIF1B):c.1563A>G (p.Gly521=) rs2102249374
NM_001365951.3(KIF1B):c.1567C>T (p.Leu523=)
NM_001365951.3(KIF1B):c.1590+10_1590+11del
NM_001365951.3(KIF1B):c.1590+8A>G rs1168139281
NM_001365951.3(KIF1B):c.1590+9C>T
NM_001365951.3(KIF1B):c.1593C>A (p.Thr531=)
NM_001365951.3(KIF1B):c.1608C>T (p.Asn536=) rs2102255177
NM_001365951.3(KIF1B):c.1620C>T (p.Asp540=)
NM_001365951.3(KIF1B):c.1624C>T (p.Leu542=)
NM_001365951.3(KIF1B):c.1668A>G (p.Thr556=)
NM_001365951.3(KIF1B):c.1670+15T>C
NM_001365951.3(KIF1B):c.1670+20T>C
NM_001365951.3(KIF1B):c.1671-14T>C
NM_001365951.3(KIF1B):c.1671-14dup
NM_001365951.3(KIF1B):c.1671-6G>A rs1420466491
NM_001365951.3(KIF1B):c.1719G>T (p.Gly573=)
NM_001365951.3(KIF1B):c.1731A>G (p.Lys577=)
NM_001365951.3(KIF1B):c.1746C>A (p.Ile582=)
NM_001365951.3(KIF1B):c.1750C>A (p.Arg584=)
NM_001365951.3(KIF1B):c.1777+11C>G
NM_001365951.3(KIF1B):c.1777+14G>A rs750048938
NM_001365951.3(KIF1B):c.1777+7A>G
NM_001365951.3(KIF1B):c.1778-11G>T
NM_001365951.3(KIF1B):c.1778-14T>C rs2102258072
NM_001365951.3(KIF1B):c.1778-17G>A
NM_001365951.3(KIF1B):c.1778-17G>T
NM_001365951.3(KIF1B):c.1778-8C>T
NM_001365951.3(KIF1B):c.180C>T (p.Thr60=) rs1051505837
NM_001365951.3(KIF1B):c.183+12C>G
NM_001365951.3(KIF1B):c.183+13A>C
NM_001365951.3(KIF1B):c.183+13A>G rs1647779753
NM_001365951.3(KIF1B):c.183+20dup
NM_001365951.3(KIF1B):c.184-11A>T
NM_001365951.3(KIF1B):c.184-18T>A rs2102186523
NM_001365951.3(KIF1B):c.184-6T>G
NM_001365951.3(KIF1B):c.184-7T>C
NM_001365951.3(KIF1B):c.184-9T>G
NM_001365951.3(KIF1B):c.1861+12A>G
NM_001365951.3(KIF1B):c.1861+7C>G
NM_001365951.3(KIF1B):c.1862-20A>G rs751429277
NM_001365951.3(KIF1B):c.1862-7G>A
NM_001365951.3(KIF1B):c.1899C>A (p.Arg633=)
NM_001365951.3(KIF1B):c.1899C>T (p.Arg633=) rs1310291443
NM_001365951.3(KIF1B):c.1911G>T (p.Pro637=) rs138876135
NM_001365951.3(KIF1B):c.1914A>G (p.Glu638=)
NM_001365951.3(KIF1B):c.1929G>A (p.Glu643=)
NM_001365951.3(KIF1B):c.1930C>A (p.Arg644=) rs1195706897
NM_001365951.3(KIF1B):c.1950T>C (p.Ala650=)
NM_001365951.3(KIF1B):c.1950T>G (p.Ala650=)
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.1995G>A (p.Glu665=) rs2102259202
NM_001365951.3(KIF1B):c.2042+15C>G
NM_001365951.3(KIF1B):c.2042+15C>T
NM_001365951.3(KIF1B):c.2042+16G>C rs1427727123
NM_001365951.3(KIF1B):c.2042+19G>A
NM_001365951.3(KIF1B):c.2043-4C>T rs771419523
NM_001365951.3(KIF1B):c.2043-9T>C
NM_001365951.3(KIF1B):c.2046A>G (p.Leu682=)
NM_001365951.3(KIF1B):c.2115+10C>G
NM_001365951.3(KIF1B):c.2116-18T>G
NM_001365951.3(KIF1B):c.2139C>T (p.Ala713=) rs2102294111
NM_001365951.3(KIF1B):c.213C>T (p.Asn71=) rs765503412
NM_001365951.3(KIF1B):c.2148G>A (p.Lys716=)
NM_001365951.3(KIF1B):c.2205A>G (p.Glu735=)
NM_001365951.3(KIF1B):c.2209+13G>T
NM_001365951.3(KIF1B):c.2209+16C>T
NM_001365951.3(KIF1B):c.2209+9T>G rs2102294191
NM_001365951.3(KIF1B):c.2210-11C>A
NM_001365951.3(KIF1B):c.2210-11C>T
NM_001365951.3(KIF1B):c.2210-13T>A
NM_001365951.3(KIF1B):c.2210-16T>A
NM_001365951.3(KIF1B):c.2210-19G>T
NM_001365951.3(KIF1B):c.2226T>C (p.His742=)
NM_001365951.3(KIF1B):c.2244A>G (p.Gln748=)
NM_001365951.3(KIF1B):c.2259A>G (p.Lys753=)
NM_001365951.3(KIF1B):c.2310C>A (p.Ala770=)
NM_001365951.3(KIF1B):c.2343G>A (p.Val781=)
NM_001365951.3(KIF1B):c.2358+12G>A rs1356013143
NM_001365951.3(KIF1B):c.2358+12_2358+15dup
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
NM_001365951.3(KIF1B):c.2359-11T>C
NM_001365951.3(KIF1B):c.2359-12C>A
NM_001365951.3(KIF1B):c.2391A>G (p.Thr797=) rs1651619021
NM_001365951.3(KIF1B):c.2463T>A (p.Pro821=)
NM_001365951.3(KIF1B):c.2466C>T (p.Arg822=) rs753982918
NM_001365951.3(KIF1B):c.2472G>A (p.Val824=) rs2102299017
NM_001365951.3(KIF1B):c.2538-19C>T
NM_001365951.3(KIF1B):c.2538-9A>G
NM_001365951.3(KIF1B):c.2562G>A (p.Glu854=)
NM_001365951.3(KIF1B):c.2580G>A (p.Gly860=)
NM_001365951.3(KIF1B):c.2595T>C (p.Ser865=)
NM_001365951.3(KIF1B):c.2619T>A (p.Thr873=)
NM_001365951.3(KIF1B):c.261G>A (p.Glu87=)
NM_001365951.3(KIF1B):c.2622G>A (p.Val874=)
NM_001365951.3(KIF1B):c.2631C>T (p.Ser877=)
NM_001365951.3(KIF1B):c.2647C>A (p.Arg883=) rs2102300290
NM_001365951.3(KIF1B):c.2649G>A (p.Arg883=)
NM_001365951.3(KIF1B):c.2664A>G (p.Lys888=) rs2102300309
NM_001365951.3(KIF1B):c.2675+18T>C
NM_001365951.3(KIF1B):c.2676-19C>T
NM_001365951.3(KIF1B):c.2676-6_2676-5del rs2102301578
NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=) rs746863711
NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)
NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)
NM_001365951.3(KIF1B):c.2796G>A (p.Glu932=)
NM_001365951.3(KIF1B):c.2817C>T (p.Phe939=)
NM_001365951.3(KIF1B):c.2820G>A (p.Val940=) rs2102301840
NM_001365951.3(KIF1B):c.2826C>T (p.Asp942=)
NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)
NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)
NM_001365951.3(KIF1B):c.285C>A (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.285C>T (p.Ala95=)
NM_001365951.3(KIF1B):c.2913T>A (p.Ile971=)
NM_001365951.3(KIF1B):c.291G>A (p.Gly97=)
NM_001365951.3(KIF1B):c.2924+16G>C
NM_001365951.3(KIF1B):c.2924+18G>A
NM_001365951.3(KIF1B):c.2924+18G>T
NM_001365951.3(KIF1B):c.2925-13T>C
NM_001365951.3(KIF1B):c.2925-3del rs756643992
NM_001365951.3(KIF1B):c.2940G>A (p.Leu980=)
NM_001365951.3(KIF1B):c.2974A>C (p.Arg992=) rs750405644
NM_001365951.3(KIF1B):c.3006G>A (p.Val1002=)
NM_001365951.3(KIF1B):c.3009G>A (p.Arg1003=)
NM_001365951.3(KIF1B):c.3024G>A (p.Val1008=)
NM_001365951.3(KIF1B):c.3036C>A (p.Ala1012=)
NM_001365951.3(KIF1B):c.3036C>T (p.Ala1012=)
NM_001365951.3(KIF1B):c.3043+11C>T
NM_001365951.3(KIF1B):c.3043+13C>T
NM_001365951.3(KIF1B):c.3043+16C>T
NM_001365951.3(KIF1B):c.3044-15T>C rs771795825
NM_001365951.3(KIF1B):c.3044-18T>A
NM_001365951.3(KIF1B):c.3066T>C (p.Tyr1022=)
NM_001365951.3(KIF1B):c.306A>G (p.Gly102=)
NM_001365951.3(KIF1B):c.3129+10C>T
NM_001365951.3(KIF1B):c.3129+11G>A
NM_001365951.3(KIF1B):c.3129+16G>A
NM_001365951.3(KIF1B):c.3130-11C>T rs1652206804
NM_001365951.3(KIF1B):c.3130-16C>T
NM_001365951.3(KIF1B):c.3130-18C>T
NM_001365951.3(KIF1B):c.3130-19G>A rs2102315695
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=) rs754121148
NM_001365951.3(KIF1B):c.3141G>C (p.Ser1047=)
NM_001365951.3(KIF1B):c.3141G>T (p.Ser1047=) rs754121148
NM_001365951.3(KIF1B):c.3166C>T (p.Leu1056=)
NM_001365951.3(KIF1B):c.3180G>A (p.Glu1060=)
NM_001365951.3(KIF1B):c.3181T>C (p.Leu1061=)
NM_001365951.3(KIF1B):c.3198A>T (p.Gly1066=) rs372610670
NM_001365951.3(KIF1B):c.3201G>A (p.Gln1067=)
NM_001365951.3(KIF1B):c.3259+14G>A
NM_001365951.3(KIF1B):c.3259+16T>A
NM_001365951.3(KIF1B):c.3259+20T>C
NM_001365951.3(KIF1B):c.3324C>G (p.Gly1108=)
NM_001365951.3(KIF1B):c.3330C>T (p.His1110=)
NM_001365951.3(KIF1B):c.3339G>T (p.Leu1113=) rs2102316184
NM_001365951.3(KIF1B):c.333A>G (p.Gln111=) rs2102186835
NM_001365951.3(KIF1B):c.3360A>C (p.Arg1120=)
NM_001365951.3(KIF1B):c.3422+19C>T
NM_001365951.3(KIF1B):c.3422+7T>C
NM_001365951.3(KIF1B):c.3423-6A>G
NM_001365951.3(KIF1B):c.3423-8T>C
NM_001365951.3(KIF1B):c.3456G>T (p.Thr1152=)
NM_001365951.3(KIF1B):c.3462C>T (p.Pro1154=)
NM_001365951.3(KIF1B):c.3465C>T (p.Leu1155=)
NM_001365951.3(KIF1B):c.348T>C (p.Ala116=)
NM_001365951.3(KIF1B):c.348T>G (p.Ala116=) rs1647936228
NM_001365951.3(KIF1B):c.3495C>T (p.Ala1165=)
NM_001365951.3(KIF1B):c.3513+10A>G rs773664561
NM_001365951.3(KIF1B):c.3513+9C>T
NM_001365951.3(KIF1B):c.3514-11C>T
NM_001365951.3(KIF1B):c.3514-15_3514-14del
NM_001365951.3(KIF1B):c.3514-18A>G
NM_001365951.3(KIF1B):c.3514-7G>T rs2102322317
NM_001365951.3(KIF1B):c.351C>T (p.Gly117=)
NM_001365951.3(KIF1B):c.3528C>T (p.Ile1176=)
NM_001365951.3(KIF1B):c.3558C>G (p.Thr1186=)
NM_001365951.3(KIF1B):c.3567T>C (p.Ile1189=)
NM_001365951.3(KIF1B):c.357T>C (p.Ile119=)
NM_001365951.3(KIF1B):c.3603A>G (p.Pro1201=) rs2102322455
NM_001365951.3(KIF1B):c.3615A>G (p.Gln1205=)
NM_001365951.3(KIF1B):c.363+13A>G
NM_001365951.3(KIF1B):c.363+14C>G
NM_001365951.3(KIF1B):c.363+17A>T
NM_001365951.3(KIF1B):c.363+17_363+18dup
NM_001365951.3(KIF1B):c.3632+8C>G rs966317106
NM_001365951.3(KIF1B):c.3633-14T>C
NM_001365951.3(KIF1B):c.3633-20T>G
NM_001365951.3(KIF1B):c.3633-5T>C
NM_001365951.3(KIF1B):c.364-15A>C
NM_001365951.3(KIF1B):c.3645G>C (p.Pro1215=) rs147318592
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=) rs868389032
NM_001365951.3(KIF1B):c.3676C>T (p.Leu1226=)
NM_001365951.3(KIF1B):c.3681C>T (p.Ser1227=)
NM_001365951.3(KIF1B):c.3684G>A (p.Lys1228=) rs2102323785
NM_001365951.3(KIF1B):c.3688+10C>G rs755222148
NM_001365951.3(KIF1B):c.3688+16G>A
NM_001365951.3(KIF1B):c.3703T>C (p.Leu1235=)
NM_001365951.3(KIF1B):c.3723C>A (p.Thr1241=)
NM_001365951.3(KIF1B):c.3738C>T (p.Ser1246=)
NM_001365951.3(KIF1B):c.3798-12del rs2102328760
NM_001365951.3(KIF1B):c.3798-15G>A rs766283700
NM_001365951.3(KIF1B):c.3798-15G>C
NM_001365951.3(KIF1B):c.3798-18T>C rs1652637104
NM_001365951.3(KIF1B):c.3804C>T (p.Ile1268=)
NM_001365951.3(KIF1B):c.3813G>A (p.Val1271=)
NM_001365951.3(KIF1B):c.3825A>G (p.Thr1275=) rs754717048
NM_001365951.3(KIF1B):c.3846G>A (p.Gly1282=)
NM_001365951.3(KIF1B):c.3861T>C (p.His1287=)
NM_001365951.3(KIF1B):c.3864+12G>T
NM_001365951.3(KIF1B):c.3864+16C>T rs764351743
NM_001365951.3(KIF1B):c.3865-16C>T
NM_001365951.3(KIF1B):c.3865-18C>T
NM_001365951.3(KIF1B):c.3865-19A>G
NM_001365951.3(KIF1B):c.3865-20A>C
NM_001365951.3(KIF1B):c.3865-8T>C
NM_001365951.3(KIF1B):c.3867C>T (p.Gly1289=)
NM_001365951.3(KIF1B):c.3882C>T (p.Ile1294=)
NM_001365951.3(KIF1B):c.3885A>G (p.Thr1295=)
NM_001365951.3(KIF1B):c.3891C>T (p.Thr1297=)
NM_001365951.3(KIF1B):c.3900T>C (p.His1300=)
NM_001365951.3(KIF1B):c.3903G>A (p.Glu1301=)
NM_001365951.3(KIF1B):c.3912C>T (p.Ser1304=)
NM_001365951.3(KIF1B):c.3921T>C (p.His1307=)
NM_001365951.3(KIF1B):c.3927A>G (p.Lys1309=) rs773380588
NM_001365951.3(KIF1B):c.3949+18G>A
NM_001365951.3(KIF1B):c.3949+8C>T
NM_001365951.3(KIF1B):c.3949+9_3949+10dup
NM_001365951.3(KIF1B):c.3950-14A>G
NM_001365951.3(KIF1B):c.3987A>G (p.Ala1329=)
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)
NM_001365951.3(KIF1B):c.4029C>T (p.Tyr1343=)
NM_001365951.3(KIF1B):c.4030C>T (p.Leu1344=) rs1557731851
NM_001365951.3(KIF1B):c.4044C>T (p.His1348=)
NM_001365951.3(KIF1B):c.4055+12A>C
NM_001365951.3(KIF1B):c.4055+14A>G
NM_001365951.3(KIF1B):c.4055+17A>G
NM_001365951.3(KIF1B):c.4056-11T>A
NM_001365951.3(KIF1B):c.4056-19C>A rs753780102
NM_001365951.3(KIF1B):c.4056-6C>A rs754886872
NM_001365951.3(KIF1B):c.4056-6C>G
NM_001365951.3(KIF1B):c.4074G>A (p.Glu1358=) rs1291020748
NM_001365951.3(KIF1B):c.4110T>C (p.Leu1370=) rs749776582
NM_001365951.3(KIF1B):c.4128C>T (p.Pro1376=) rs148877444
NM_001365951.3(KIF1B):c.4146C>T (p.Tyr1382=)
NM_001365951.3(KIF1B):c.4152C>G (p.Thr1384=) rs1638408043
NM_001365951.3(KIF1B):c.4167A>C (p.Leu1389=)
NM_001365951.3(KIF1B):c.4167A>T (p.Leu1389=) rs1638408619
NM_001365951.3(KIF1B):c.4170+17C>G
NM_001365951.3(KIF1B):c.4170+20del
NM_001365951.3(KIF1B):c.4171-14C>G
NM_001365951.3(KIF1B):c.4171-15C>A
NM_001365951.3(KIF1B):c.4171-7C>T
NM_001365951.3(KIF1B):c.4173G>C (p.Leu1391=) rs2102345529
NM_001365951.3(KIF1B):c.4194T>A (p.Ala1398=) rs765279950
NM_001365951.3(KIF1B):c.4221C>A (p.Val1407=)
NM_001365951.3(KIF1B):c.4231C>A (p.Arg1411=)
NM_001365951.3(KIF1B):c.4263G>C (p.Leu1421=) rs2102345665
NM_001365951.3(KIF1B):c.4278C>T (p.Gly1426=)
NM_001365951.3(KIF1B):c.429+13G>T
NM_001365951.3(KIF1B):c.429+17G>A
NM_001365951.3(KIF1B):c.429+6dup rs2102194280
NM_001365951.3(KIF1B):c.430-13A>T
NM_001365951.3(KIF1B):c.430-5C>T
NM_001365951.3(KIF1B):c.430-9del rs771477893
NM_001365951.3(KIF1B):c.4304+14A>G rs2102345754
NM_001365951.3(KIF1B):c.4305-20G>A rs1279066873
NM_001365951.3(KIF1B):c.4305-20G>C
NM_001365951.3(KIF1B):c.4326C>T (p.Tyr1442=)
NM_001365951.3(KIF1B):c.4335C>T (p.Ser1445=)
NM_001365951.3(KIF1B):c.4366+17T>G
NM_001365951.3(KIF1B):c.4366+9T>C
NM_001365951.3(KIF1B):c.4367-11T>C
NM_001365951.3(KIF1B):c.4367-15T>C rs2102349800
NM_001365951.3(KIF1B):c.4367-5C>T rs2102349814
NM_001365951.3(KIF1B):c.4367-9_4367-8del rs760020005
NM_001365951.3(KIF1B):c.4392C>T (p.Ile1464=)
NM_001365951.3(KIF1B):c.4401G>A (p.Thr1467=)
NM_001365951.3(KIF1B):c.4401G>C (p.Thr1467=)
NM_001365951.3(KIF1B):c.4413T>C (p.Tyr1471=) rs2102349869
NM_001365951.3(KIF1B):c.4416G>A (p.Val1472=)
NM_001365951.3(KIF1B):c.4428G>A (p.Glu1476=)
NM_001365951.3(KIF1B):c.4449C>G (p.Pro1483=) rs2102349912
NM_001365951.3(KIF1B):c.4479G>A (p.Gln1493=) rs1638533963
NM_001365951.3(KIF1B):c.4512+11G>A
NM_001365951.3(KIF1B):c.4512+15G>C rs1638535500
NM_001365951.3(KIF1B):c.4512+16del
NM_001365951.3(KIF1B):c.4512+9_4512+12dup
NM_001365951.3(KIF1B):c.4513-14A>G
NM_001365951.3(KIF1B):c.4513-16G>A
NM_001365951.3(KIF1B):c.4513-20A>G rs1344150193
NM_001365951.3(KIF1B):c.4560C>T (p.Asp1520=)
NM_001365951.3(KIF1B):c.4581C>T (p.Ser1527=)
NM_001365951.3(KIF1B):c.4587G>A (p.Ser1529=)
NM_001365951.3(KIF1B):c.4611G>A (p.Gly1537=)
NM_001365951.3(KIF1B):c.4623C>T (p.Thr1541=) rs1415477397
NM_001365951.3(KIF1B):c.4644G>A (p.Gln1548=)
NM_001365951.3(KIF1B):c.4647C>T (p.Ile1549=)
NM_001365951.3(KIF1B):c.4653C>T (p.Thr1551=)
NM_001365951.3(KIF1B):c.4680T>C (p.Pro1560=)
NM_001365951.3(KIF1B):c.4692T>C (p.Ser1564=) rs2102350508
NM_001365951.3(KIF1B):c.4713C>T (p.Ile1571=) rs750386624
NM_001365951.3(KIF1B):c.474G>T (p.Leu158=) rs1648529329
NM_001365951.3(KIF1B):c.4752+11C>T
NM_001365951.3(KIF1B):c.4752+14C>T
NM_001365951.3(KIF1B):c.4753-16T>C
NM_001365951.3(KIF1B):c.4753-4T>A rs2102354385
NM_001365951.3(KIF1B):c.4753-6_4753-4del rs2102354381
NM_001365951.3(KIF1B):c.4761A>G (p.Gln1587=) rs960083901
NM_001365951.3(KIF1B):c.4776T>G (p.Thr1592=)
NM_001365951.3(KIF1B):c.4809C>T (p.Ser1603=)
NM_001365951.3(KIF1B):c.4824+16_4824+17del rs764397992
NM_001365951.3(KIF1B):c.4824+9A>G
NM_001365951.3(KIF1B):c.4825-14C>T
NM_001365951.3(KIF1B):c.4896C>T (p.Ser1632=)
NM_001365951.3(KIF1B):c.4899C>G (p.Ser1633=)
NM_001365951.3(KIF1B):c.4920C>T (p.Asp1640=)
NM_001365951.3(KIF1B):c.4946+9C>A
NM_001365951.3(KIF1B):c.4947-13C>G rs1638826414
NM_001365951.3(KIF1B):c.4947-13_4947-10del
NM_001365951.3(KIF1B):c.4947-6T>G
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=) rs778240671
NM_001365951.3(KIF1B):c.498G>A (p.Leu166=)
NM_001365951.3(KIF1B):c.5013A>T (p.Pro1671=)
NM_001365951.3(KIF1B):c.5022A>G (p.Glu1674=)
NM_001365951.3(KIF1B):c.5052C>T (p.Asn1684=)
NM_001365951.3(KIF1B):c.5096+13T>C
NM_001365951.3(KIF1B):c.5096+7A>G
NM_001365951.3(KIF1B):c.5097-20T>C rs2102363216
NM_001365951.3(KIF1B):c.5130C>T (p.Phe1710=)
NM_001365951.3(KIF1B):c.513C>T (p.His171=)
NM_001365951.3(KIF1B):c.5145C>T (p.Tyr1715=)
NM_001365951.3(KIF1B):c.5172C>T (p.Val1724=)
NM_001365951.3(KIF1B):c.5223G>A (p.Glu1741=)
NM_001365951.3(KIF1B):c.5235T>C (p.Ile1745=)
NM_001365951.3(KIF1B):c.5301C>G (p.Thr1767=)
NM_001365951.3(KIF1B):c.5313C>T (p.Cys1771=)
NM_001365951.3(KIF1B):c.5373G>A (p.Leu1791=)
NM_001365951.3(KIF1B):c.5388A>C (p.Pro1796=)
NM_001365951.3(KIF1B):c.5397T>G (p.Ala1799=)
NM_001365951.3(KIF1B):c.5408+11TTG[4] rs371033478
NM_001365951.3(KIF1B):c.5408+11TTG[7] rs371033478
NM_001365951.3(KIF1B):c.5408+13G>T rs1638854124
NM_001365951.3(KIF1B):c.5408+18T>C
NM_001365951.3(KIF1B):c.5408+19G>A
NM_001365951.3(KIF1B):c.5408+20T>C
NM_001365951.3(KIF1B):c.543G>C (p.Leu181=)
NM_001365951.3(KIF1B):c.546C>T (p.Ser182=)
NM_001365951.3(KIF1B):c.549G>A (p.Lys183=)
NM_001365951.3(KIF1B):c.567C>T (p.Tyr189=) rs748370435
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320
NM_001365951.3(KIF1B):c.609-6A>G rs1276227203
NM_001365951.3(KIF1B):c.609-8T>A rs2102206798
NM_001365951.3(KIF1B):c.687A>G (p.Lys229=)
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)
NM_001365951.3(KIF1B):c.720+17C>A
NM_001365951.3(KIF1B):c.741G>A (p.Val247=)
NM_001365951.3(KIF1B):c.750A>C (p.Ala250=) rs2102213217
NM_001365951.3(KIF1B):c.777T>C (p.Gly259=) rs2102213262
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=) rs1648800243
NM_001365951.3(KIF1B):c.798+14C>G
NM_001365951.3(KIF1B):c.799-11A>G
NM_001365951.3(KIF1B):c.799-20A>G
NM_001365951.3(KIF1B):c.799-6_799-2del rs2102214337
NM_001365951.3(KIF1B):c.834G>A (p.Leu278=)
NM_001365951.3(KIF1B):c.864+13C>T
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_001365951.3(KIF1B):c.883-15C>T rs1397719362
NM_001365951.3(KIF1B):c.883-19A>G
NM_001365951.3(KIF1B):c.883-20C>T
NM_001365951.3(KIF1B):c.883-8T>C
NM_001365951.3(KIF1B):c.93A>G (p.Gln31=) rs765851262
NM_001365951.3(KIF1B):c.942C>T (p.Leu314=) rs1060504381
NM_001365951.3(KIF1B):c.959-16T>C
NM_001365951.3(KIF1B):c.959-17A>C
NM_001365951.3(KIF1B):c.959-7T>A
NM_001365951.3(KIF1B):c.978A>G (p.Ala326=) rs1011233723
NM_001365951.3(KIF1B):c.993G>A (p.Leu331=) rs2102222302
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
NM_001605.3(AARS1):c.1044G>A (p.Thr348=) rs181264712
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)
NM_001605.3(AARS1):c.1071+15C>A rs1310673800
NM_001605.3(AARS1):c.1071+15C>T
NM_001605.3(AARS1):c.1072-10C>A
NM_001605.3(AARS1):c.1072-10C>T
NM_001605.3(AARS1):c.1072-12C>T
NM_001605.3(AARS1):c.1072-15C>A
NM_001605.3(AARS1):c.1072-16G>A
NM_001605.3(AARS1):c.1072-18T>C
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)
NM_001605.3(AARS1):c.1074A>T (p.Gly358=) rs1555541137
NM_001605.3(AARS1):c.1083T>C (p.Phe361=) rs2152160273
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
NM_001605.3(AARS1):c.1122C>T (p.Ile374=) rs752057589
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
NM_001605.3(AARS1):c.1143G>A (p.Gln381=) rs778064460
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
NM_001605.3(AARS1):c.1167G>T (p.Gly389=) rs1960296503
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
NM_001605.3(AARS1):c.1209C>T (p.Ser403=) rs769521539
NM_001605.3(AARS1):c.120C>T (p.Leu40=) rs2152170372
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)
NM_001605.3(AARS1):c.1222+17G>A rs755205317
NM_001605.3(AARS1):c.1222+18C>T
NM_001605.3(AARS1):c.1222+19C>T
NM_001605.3(AARS1):c.1222+7A>G rs200591546
NM_001605.3(AARS1):c.1223-12T>C
NM_001605.3(AARS1):c.1223-15C>T
NM_001605.3(AARS1):c.1223-18C>T
NM_001605.3(AARS1):c.1223-9G>T rs2152158800
NM_001605.3(AARS1):c.1227C>T (p.Asp409=)
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)
NM_001605.3(AARS1):c.1263A>G (p.Pro421=) rs756280590
NM_001605.3(AARS1):c.126C>G (p.Ala42=)
NM_001605.3(AARS1):c.1272G>A (p.Leu424=) rs1412346348
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
NM_001605.3(AARS1):c.129T>C (p.Asn43=)
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
NM_001605.3(AARS1):c.1347+10T>A
NM_001605.3(AARS1):c.1347+13G>C
NM_001605.3(AARS1):c.1347+16A>G
NM_001605.3(AARS1):c.1347+19G>A
NM_001605.3(AARS1):c.1347+7A>G
NM_001605.3(AARS1):c.1347+9C>T
NM_001605.3(AARS1):c.1348-10T>A rs760431632
NM_001605.3(AARS1):c.1348-10T>C
NM_001605.3(AARS1):c.1348-11C>G rs1332894937
NM_001605.3(AARS1):c.1348-17G>A
NM_001605.3(AARS1):c.1348-20C>G rs371734869
NM_001605.3(AARS1):c.1348-20C>T
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
NM_001605.3(AARS1):c.144+14C>T rs757604499
NM_001605.3(AARS1):c.144+19T>C
NM_001605.3(AARS1):c.144+7G>A
NM_001605.3(AARS1):c.144+8T>C
NM_001605.3(AARS1):c.145-15G>C rs2152167095
NM_001605.3(AARS1):c.145-17C>A
NM_001605.3(AARS1):c.145-18G>T
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=) rs1410121757
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
NM_001605.3(AARS1):c.1488C>T (p.Ser496=) rs1057048498
NM_001605.3(AARS1):c.1492+10T>A
NM_001605.3(AARS1):c.1492+10TG[3] rs758577376
NM_001605.3(AARS1):c.1492+13G>A rs2152158273
NM_001605.3(AARS1):c.1492+14C>T
NM_001605.3(AARS1):c.1492+15T>C
NM_001605.3(AARS1):c.1492+19T>C rs749277642
NM_001605.3(AARS1):c.1492+7T>C
NM_001605.3(AARS1):c.1493-15A>G
NM_001605.3(AARS1):c.1493-19A>G
NM_001605.3(AARS1):c.1493-8T>G
NM_001605.3(AARS1):c.1493-9C>A rs780911124
NM_001605.3(AARS1):c.1494A>G (p.Val498=)
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.153C>T (p.Pro51=) rs1191170313
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
NM_001605.3(AARS1):c.1551A>G (p.Glu517=) rs1597437798
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
NM_001605.3(AARS1):c.1563A>G (p.Thr521=) rs1273011840
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
NM_001605.3(AARS1):c.1596C>T (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
NM_001605.3(AARS1):c.162G>A (p.Leu54=) rs2152167067
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
NM_001605.3(AARS1):c.1671+12G>C
NM_001605.3(AARS1):c.1671+19C>T
NM_001605.3(AARS1):c.1671+20T>C
NM_001605.3(AARS1):c.1671+8_1671+15del
NM_001605.3(AARS1):c.1671+9A>G rs1013897408
NM_001605.3(AARS1):c.1672-15C>T
NM_001605.3(AARS1):c.1672-7C>T
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met) rs144323646
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
NM_001605.3(AARS1):c.1785+10G>A
NM_001605.3(AARS1):c.1785+10del
NM_001605.3(AARS1):c.1785+20C>T
NM_001605.3(AARS1):c.1786-17C>A
NM_001605.3(AARS1):c.1786-7T>C rs2152154564
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>C (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.1824G>T (p.Thr608=)
NM_001605.3(AARS1):c.1827C>T (p.His609=)
NM_001605.3(AARS1):c.1836C>T (p.Asn612=) rs1555540045
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
NM_001605.3(AARS1):c.1854G>A (p.Val618=) rs2152154469
NM_001605.3(AARS1):c.1860G>C (p.Gly620=) rs2152154460
NM_001605.3(AARS1):c.1902C>T (p.Leu634=) rs2152154407
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
NM_001605.3(AARS1):c.1956T>G (p.Ala652=) rs1194294732
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
NM_001605.3(AARS1):c.1989C>T (p.Ala663=) rs2152154316
NM_001605.3(AARS1):c.1992+12G>A
NM_001605.3(AARS1):c.1992+19G>C rs1960065308
NM_001605.3(AARS1):c.1992+7T>C
NM_001605.3(AARS1):c.1993-13_1993-11del rs1960041397
NM_001605.3(AARS1):c.1993-16C>G
NM_001605.3(AARS1):c.1993-18G>C
NM_001605.3(AARS1):c.1993-7C>T rs753213408
NM_001605.3(AARS1):c.1993-8T>C
NM_001605.3(AARS1):c.2004C>T (p.Thr668=) rs1283821119
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)
NM_001605.3(AARS1):c.2049G>T (p.Arg683=) rs1960038059
NM_001605.3(AARS1):c.2053G>A (p.Val685Met) rs531257362
NM_001605.3(AARS1):c.2082G>A (p.Val694=) rs1960037082
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
NM_001605.3(AARS1):c.2100G>A (p.Gly700=) rs2152153574
NM_001605.3(AARS1):c.2103C>A (p.Val701=) rs1476539357
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2169T>C (p.Cys723=) rs2152153481
NM_001605.3(AARS1):c.2177+11C>T
NM_001605.3(AARS1):c.2177+13del
NM_001605.3(AARS1):c.2177+20A>G
NM_001605.3(AARS1):c.2177+9T>A
NM_001605.3(AARS1):c.2177+9T>G rs2152153451
NM_001605.3(AARS1):c.2178-11C>T
NM_001605.3(AARS1):c.2178-14G>T rs371633904
NM_001605.3(AARS1):c.2178-17del
NM_001605.3(AARS1):c.2178-4dup rs1567602041
NM_001605.3(AARS1):c.2178-5T>C
NM_001605.3(AARS1):c.2178-9G>C
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)
NM_001605.3(AARS1):c.2193G>A (p.Ser731=) rs746349849
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
NM_001605.3(AARS1):c.2259G>A (p.Val753=)
NM_001605.3(AARS1):c.225C>T (p.Cys75=) rs2152167029
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)
NM_001605.3(AARS1):c.2274C>T (p.Ala758=) rs143430116
NM_001605.3(AARS1):c.2286+7A>G rs1597433975
NM_001605.3(AARS1):c.2286+8G>A
NM_001605.3(AARS1):c.2287-10C>T
NM_001605.3(AARS1):c.2287-12G>T
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
NM_001605.3(AARS1):c.2307C>T (p.Ser769=) rs2152150785
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
NM_001605.3(AARS1):c.231G>T (p.Arg77=) rs2152167020
NM_001605.3(AARS1):c.2322C>G (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2322C>T (p.Leu774=) rs35769308
NM_001605.3(AARS1):c.2328C>T (p.Val776=) rs146969194
NM_001605.3(AARS1):c.2358T>C (p.Ala786=) rs2152150749
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
NM_001605.3(AARS1):c.2391C>T (p.Asp797=) rs2152150720
NM_001605.3(AARS1):c.2400+15C>T
NM_001605.3(AARS1):c.2400+18C>T
NM_001605.3(AARS1):c.2400+20C>T
NM_001605.3(AARS1):c.2400+7G>A
NM_001605.3(AARS1):c.2400+8C>A
NM_001605.3(AARS1):c.2400+8C>G
NM_001605.3(AARS1):c.2400+9G>A
NM_001605.3(AARS1):c.2401-11A>C rs377576408
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2401-11A>T rs377576408
NM_001605.3(AARS1):c.2401-13C>T
NM_001605.3(AARS1):c.2401-16C>G
NM_001605.3(AARS1):c.2401-18G>A
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)
NM_001605.3(AARS1):c.2457C>G (p.Leu819=) rs1485047907
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)
NM_001605.3(AARS1):c.2475C>T (p.Val825=) rs1160997883
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn) rs1217292644
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)
NM_001605.3(AARS1):c.2520+12C>T
NM_001605.3(AARS1):c.2520+18C>T
NM_001605.3(AARS1):c.2520+7C>T
NM_001605.3(AARS1):c.2521-11T>C
NM_001605.3(AARS1):c.2521-12T>C rs200328881
NM_001605.3(AARS1):c.2521-16G>A
NM_001605.3(AARS1):c.2521-41_2521-16del
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
NM_001605.3(AARS1):c.2607+12G>C
NM_001605.3(AARS1):c.2607+13C>A
NM_001605.3(AARS1):c.2607+14C>T
NM_001605.3(AARS1):c.2607+17G>A
NM_001605.3(AARS1):c.2607+18G>A rs760437667
NM_001605.3(AARS1):c.2607+18G>T rs760437667
NM_001605.3(AARS1):c.2607+20C>G
NM_001605.3(AARS1):c.2607+8A>G rs1597432621
NM_001605.3(AARS1):c.2608-11C>G
NM_001605.3(AARS1):c.2608-14G>A
NM_001605.3(AARS1):c.2608-16C>G rs371163247
NM_001605.3(AARS1):c.2608-17C>G rs955702969
NM_001605.3(AARS1):c.2608-18G>T
NM_001605.3(AARS1):c.2622C>T (p.Ala874=) rs1597432428
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
NM_001605.3(AARS1):c.2706G>A (p.Leu902=) rs1214694193
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)
NM_001605.3(AARS1):c.270G>A (p.Lys90=) rs1597446213
NM_001605.3(AARS1):c.2712A>G (p.Gln904=) rs1555539241
NM_001605.3(AARS1):c.2715T>A (p.Val905=) rs4081753
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
NM_001605.3(AARS1):c.2721+12C>T
NM_001605.3(AARS1):c.2721+14C>G rs369055609
NM_001605.3(AARS1):c.2721+15G>A rs377325175
NM_001605.3(AARS1):c.2721+15G>C rs377325175
NM_001605.3(AARS1):c.2721+15G>T rs377325175
NM_001605.3(AARS1):c.2721+17A>T rs2152149667
NM_001605.3(AARS1):c.2721+20A>G
NM_001605.3(AARS1):c.2722-13T>G
NM_001605.3(AARS1):c.2722-20C>G
NM_001605.3(AARS1):c.2722-7C>T rs2152149455
NM_001605.3(AARS1):c.2722-9del
NM_001605.3(AARS1):c.2724T>C (p.Asn908=) rs2152149449
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
NM_001605.3(AARS1):c.276C>G (p.Val92=) rs774991720
NM_001605.3(AARS1):c.2776T>C (p.Leu926=) rs1597432045
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)
NM_001605.3(AARS1):c.2841C>T (p.Cys947=) rs1555539162
NM_001605.3(AARS1):c.2842C>T (p.Leu948=)
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
NM_001605.3(AARS1):c.2860C>T (p.Leu954=) rs1959872785
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)
NM_001605.3(AARS1):c.2889C>G (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2889C>T (p.Leu963=) rs75033663
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)
NM_001605.3(AARS1):c.294C>T (p.Phe98=)
NM_001605.3(AARS1):c.333+12G>A
NM_001605.3(AARS1):c.333+15G>A
NM_001605.3(AARS1):c.333+18_333+20del rs2152166939
NM_001605.3(AARS1):c.333+9A>T
NM_001605.3(AARS1):c.334-10C>A rs758124515
NM_001605.3(AARS1):c.334-13_334-9del
NM_001605.3(AARS1):c.334-14T>G rs2152166778
NM_001605.3(AARS1):c.334-15C>T
NM_001605.3(AARS1):c.334-17C>T
NM_001605.3(AARS1):c.334-19C>G
NM_001605.3(AARS1):c.334-19CT[2] rs1305114725
NM_001605.3(AARS1):c.336A>G (p.Glu112=) rs759137116
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.342A>G (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
NM_001605.3(AARS1):c.387C>T (p.Pro129=) rs1960557000
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
NM_001605.3(AARS1):c.429A>C (p.Ala143=) rs1457318201
NM_001605.3(AARS1):c.436T>C (p.Leu146=)
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.477G>A (p.Leu159=)
NM_001605.3(AARS1):c.479+10C>A
NM_001605.3(AARS1):c.479+10C>T
NM_001605.3(AARS1):c.480-18T>C
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
NM_001605.3(AARS1):c.543G>A (p.Thr181=) rs900751261
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
NM_001605.3(AARS1):c.60G>A (p.Arg20=)
NM_001605.3(AARS1):c.612C>T (p.Val204=)
NM_001605.3(AARS1):c.618G>A (p.Gln206=) rs139785247
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
NM_001605.3(AARS1):c.639G>A (p.Glu213=) rs2152163164
NM_001605.3(AARS1):c.651T>C (p.Leu217=) rs1960409154
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)
NM_001605.3(AARS1):c.671+15C>A
NM_001605.3(AARS1):c.671+18C>A
NM_001605.3(AARS1):c.672-15T>C
NM_001605.3(AARS1):c.672-16C>T
NM_001605.3(AARS1):c.672-19C>G
NM_001605.3(AARS1):c.672-5T>A
NM_001605.3(AARS1):c.672-5T>C rs777431545
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
NM_001605.3(AARS1):c.736C>A (p.Arg246=) rs756337758
NM_001605.3(AARS1):c.774T>C (p.Tyr258=) rs2152162118
NM_001605.3(AARS1):c.783C>T (p.Asp261=)
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
NM_001605.3(AARS1):c.816+13T>C
NM_001605.3(AARS1):c.816+15G>T rs1057248434
NM_001605.3(AARS1):c.816+20C>G
NM_001605.3(AARS1):c.816+9G>A
NM_001605.3(AARS1):c.816+9G>C
NM_001605.3(AARS1):c.817-11C>G
NM_001605.3(AARS1):c.817-11C>T
NM_001605.3(AARS1):c.817-16del rs2152161834
NM_001605.3(AARS1):c.817-3dup
NM_001605.3(AARS1):c.817-4A>C
NM_001605.3(AARS1):c.822A>T (p.Thr274=) rs757503544
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
NM_001605.3(AARS1):c.846A>G (p.Lys282=) rs561670727
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
NM_001605.3(AARS1):c.909G>T (p.Arg303=) rs1344681812
NM_001605.3(AARS1):c.912C>G (p.Thr304=) rs2152161707
NM_001605.3(AARS1):c.927G>A (p.Leu309=)
NM_001605.3(AARS1):c.939C>A (p.Gly313=)
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
NM_001605.3(AARS1):c.962+10C>G
NM_001605.3(AARS1):c.962+11T>C
NM_001605.3(AARS1):c.962+12G>A
NM_001605.3(AARS1):c.962+19G>C rs1427580064
NM_001605.3(AARS1):c.962+7A>G
NM_001605.3(AARS1):c.962+8T>C
NM_001605.3(AARS1):c.963-12T>C
NM_001605.3(AARS1):c.963-8T>C
NM_001605.3(AARS1):c.963-9C>T
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
NM_001605.3(AARS1):c.9T>C (p.Ser3=)
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)
NM_002047.4(GARS1):c.1031+10A>T
NM_002047.4(GARS1):c.1031+19T>C
NM_002047.4(GARS1):c.1031+7C>T
NM_002047.4(GARS1):c.1031+9C>G
NM_002047.4(GARS1):c.1032-20G>A
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
NM_002047.4(GARS1):c.1119T>C (p.Leu373=)
NM_002047.4(GARS1):c.1123T>C (p.Leu375=) rs544280407
NM_002047.4(GARS1):c.1158C>G (p.Ser386=)
NM_002047.4(GARS1):c.1162C>A (p.Arg388=) rs759277467
NM_002047.4(GARS1):c.1172G>A (p.Arg391His) rs199832199
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
NM_002047.4(GARS1):c.1194+12G>A
NM_002047.4(GARS1):c.1194+12G>C
NM_002047.4(GARS1):c.1194+15G>T
NM_002047.4(GARS1):c.1194+7T>C
NM_002047.4(GARS1):c.1195-8T>C
NM_002047.4(GARS1):c.1245C>T (p.Leu415=) rs1584039354
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
NM_002047.4(GARS1):c.1359+17T>G
NM_002047.4(GARS1):c.1407C>G (p.Leu469=) rs2128135093
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
NM_002047.4(GARS1):c.1428C>T (p.Thr476=) rs1212959476
NM_002047.4(GARS1):c.1467+11T>C
NM_002047.4(GARS1):c.1468-15T>C
NM_002047.4(GARS1):c.1468-20A>T
NM_002047.4(GARS1):c.1468-6T>G rs1584044490
NM_002047.4(GARS1):c.1497C>A (p.Pro499=) rs1783029120
NM_002047.4(GARS1):c.1518G>A (p.Lys506=) rs1783029490
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
NM_002047.4(GARS1):c.1545G>C (p.Val515=)
NM_002047.4(GARS1):c.1551G>A (p.Glu517=) rs2128135204
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=) rs371268919
NM_002047.4(GARS1):c.1581T>A (p.Ile527=) rs960876782
NM_002047.4(GARS1):c.1600C>T (p.Leu534=)
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)
NM_002047.4(GARS1):c.1613+10C>A
NM_002047.4(GARS1):c.1613+9T>A rs75855065
NM_002047.4(GARS1):c.1614-17_1614-16del
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1614-5C>T
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
NM_002047.4(GARS1):c.1644A>G (p.Thr548=) rs1783125064
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
NM_002047.4(GARS1):c.1699+18A>G
NM_002047.4(GARS1):c.1699+23_1699+26del
NM_002047.4(GARS1):c.1700-11C>G
NM_002047.4(GARS1):c.1700-6T>C
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
NM_002047.4(GARS1):c.1746T>C (p.Gly582=) rs1783174238
NM_002047.4(GARS1):c.1764A>T (p.Val588=) rs1359108145
NM_002047.4(GARS1):c.1785A>G (p.Val595=)
NM_002047.4(GARS1):c.1806A>G (p.Arg602=) rs1314425578
NM_002047.4(GARS1):c.1809+10_1809+12del rs747338292
NM_002047.4(GARS1):c.1809+12T>A
NM_002047.4(GARS1):c.1809+20G>A
NM_002047.4(GARS1):c.1809+8G>A rs766137918
NM_002047.4(GARS1):c.1810-11A>C
NM_002047.4(GARS1):c.1810-12T>A
NM_002047.4(GARS1):c.1810-4C>T
NM_002047.4(GARS1):c.1827T>C (p.Ala609=) rs2128136202
NM_002047.4(GARS1):c.1851C>T (p.Ser617=) rs377159922
NM_002047.4(GARS1):c.1869A>G (p.Gln623=)
NM_002047.4(GARS1):c.1881C>T (p.Phe627=)
NM_002047.4(GARS1):c.1893C>G (p.Val631=)
NM_002047.4(GARS1):c.189G>C (p.Val63=)
NM_002047.4(GARS1):c.18A>G (p.Pro6=) rs1584016961
NM_002047.4(GARS1):c.1903+14A>G
NM_002047.4(GARS1):c.1903+15T>C
NM_002047.4(GARS1):c.1903+16T>G
NM_002047.4(GARS1):c.1903+18G>A rs2128136216
NM_002047.4(GARS1):c.1904-11A>G
NM_002047.4(GARS1):c.1904-19C>T rs1204535363
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
NM_002047.4(GARS1):c.1956G>T (p.Gly652=) rs1783251236
NM_002047.4(GARS1):c.1977C>T (p.Ala659=) rs746028145
NM_002047.4(GARS1):c.1992T>A (p.Ile664=) rs1584055669
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
NM_002047.4(GARS1):c.2013C>T (p.Thr671=)
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
NM_002047.4(GARS1):c.2094+12T>C
NM_002047.4(GARS1):c.2094+15C>G
NM_002047.4(GARS1):c.2094+18T>G
NM_002047.4(GARS1):c.2095-16C>T
NM_002047.4(GARS1):c.210A>C (p.Ala70=)
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
NM_002047.4(GARS1):c.222+15C>A
NM_002047.4(GARS1):c.222+17C>A
NM_002047.4(GARS1):c.223-5G>A
NM_002047.4(GARS1):c.223-5G>T
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
NM_002047.4(GARS1):c.315G>A (p.Leu105=) rs2128132436
NM_002047.4(GARS1):c.324+17T>C
NM_002047.4(GARS1):c.324+19A>C rs1249363035
NM_002047.4(GARS1):c.325-9C>A rs770645408
NM_002047.4(GARS1):c.363A>G (p.Arg121=)
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
NM_002047.4(GARS1):c.428-9A>G
NM_002047.4(GARS1):c.435T>C (p.Ser145=) rs2128132709
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
NM_002047.4(GARS1):c.537T>C (p.Asp179=) rs772899197
NM_002047.4(GARS1):c.569+12C>T
NM_002047.4(GARS1):c.569+20T>G rs2128132727
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
NM_002047.4(GARS1):c.658+13A>T
NM_002047.4(GARS1):c.658+18C>T
NM_002047.4(GARS1):c.658+20T>C
NM_002047.4(GARS1):c.69G>T (p.Arg23=) rs762624758
NM_002047.4(GARS1):c.6C>T (p.Pro2=) rs746437033
NM_002047.4(GARS1):c.711A>G (p.Ser237=) rs1584026695
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn) rs775140242
NM_002047.4(GARS1):c.72C>T (p.Leu24=) rs768665866
NM_002047.4(GARS1):c.735+12A>G
NM_002047.4(GARS1):c.735+14A>G
NM_002047.4(GARS1):c.736-13A>G
NM_002047.4(GARS1):c.736-13A>T
NM_002047.4(GARS1):c.736-17C>T
NM_002047.4(GARS1):c.736-9G>A
NM_002047.4(GARS1):c.750A>C (p.Gly250=)
NM_002047.4(GARS1):c.750A>G (p.Gly250=) rs766799218
NM_002047.4(GARS1):c.759A>G (p.Glu253=) rs1554337956
NM_002047.4(GARS1):c.780C>T (p.Asn260=) rs2128133721
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
NM_002047.4(GARS1):c.837C>T (p.Asn279=) rs1029686290
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
NM_002047.4(GARS1):c.855C>T (p.Phe285=) rs786204099
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
NM_002047.4(GARS1):c.87G>T (p.Ser29=) rs772356008
NM_002047.4(GARS1):c.881+15T>C
NM_002047.4(GARS1):c.881+17G>A rs1791560409
NM_002047.4(GARS1):c.882-16T>G
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
NM_002047.4(GARS1):c.969T>G (p.Ala323=)
NM_002047.4(GARS1):c.972C>A (p.Ala324=)
NM_002047.4(GARS1):c.972C>T (p.Ala324=) rs764305863
NM_004637.6(RAB7A):c.*997del rs371200521
NM_005572.4(LMNA):c.1714C>G (p.Arg572Gly)
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.1002G>A (p.Arg334=) rs1410500132
NM_014874.4(MFN2):c.1017G>A (p.Gln339=) rs2100840368
NM_014874.4(MFN2):c.1029G>A (p.Arg343=)
NM_014874.4(MFN2):c.1038+16C>G rs2100840444
NM_014874.4(MFN2):c.1038+17_1038+20dup
NM_014874.4(MFN2):c.1038+7C>T
NM_014874.4(MFN2):c.1039-11G>C rs777588423
NM_014874.4(MFN2):c.1039-12TG[2] rs780237550
NM_014874.4(MFN2):c.1039-15C>T
NM_014874.4(MFN2):c.1039-16C>T
NM_014874.4(MFN2):c.1039-19G>T rs74052923
NM_014874.4(MFN2):c.1039-9G>T rs1569853844
NM_014874.4(MFN2):c.1047C>T (p.Ile349=) rs2100840933
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
NM_014874.4(MFN2):c.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
NM_014874.4(MFN2):c.1140C>T (p.His380=)
NM_014874.4(MFN2):c.1158G>A (p.Gln386=)
NM_014874.4(MFN2):c.1160+10C>T
NM_014874.4(MFN2):c.1160+16T>G
NM_014874.4(MFN2):c.1160+19A>G
NM_014874.4(MFN2):c.1161-16A>T
NM_014874.4(MFN2):c.1161-17C>T
NM_014874.4(MFN2):c.1161-45_1161-14del rs2100846924
NM_014874.4(MFN2):c.1182T>G (p.Arg394=)
NM_014874.4(MFN2):c.1194A>G (p.Gln398=) rs555006809
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
NM_014874.4(MFN2):c.1236T>C (p.Ala412=) rs2100847372
NM_014874.4(MFN2):c.1251G>T (p.Leu417=) rs1291955409
NM_014874.4(MFN2):c.1287+10GAG[2]
NM_014874.4(MFN2):c.1287+19G>A rs994622836
NM_014874.4(MFN2):c.1288-15T>C
NM_014874.4(MFN2):c.1288-16C>T
NM_014874.4(MFN2):c.1288-4G>A
NM_014874.4(MFN2):c.1288-5T>C rs763320321
NM_014874.4(MFN2):c.1293G>A (p.Ser431=) rs751915674
NM_014874.4(MFN2):c.1296T>C (p.Thr432=) rs2100848678
NM_014874.4(MFN2):c.1320C>G (p.Arg440=)
NM_014874.4(MFN2):c.1330C>T (p.Leu444=) rs1639318979
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
NM_014874.4(MFN2):c.1332G>T (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1341T>C (p.Asp447=)
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=) rs2100848957
NM_014874.4(MFN2):c.1356C>T (p.Phe452=)
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
NM_014874.4(MFN2):c.1392+12A>G
NM_014874.4(MFN2):c.1392+20G>T rs1367301944
NM_014874.4(MFN2):c.1393-12_1393-11insA
NM_014874.4(MFN2):c.1393-4G>T
NM_014874.4(MFN2):c.1393-7G>A rs906719272
NM_014874.4(MFN2):c.1455C>T (p.Ala485=)
NM_014874.4(MFN2):c.1464C>T (p.Asn488=) rs1459334754
NM_014874.4(MFN2):c.1468C>T (p.Leu490=) rs1569862709
NM_014874.4(MFN2):c.1470G>A (p.Leu490=)
NM_014874.4(MFN2):c.1476C>T (p.Thr492=) rs143428548
NM_014874.4(MFN2):c.147C>T (p.Tyr49=)
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
NM_014874.4(MFN2):c.1495+13G>A
NM_014874.4(MFN2):c.1495+15_1495+16del rs2100850386
NM_014874.4(MFN2):c.1495+8C>A rs775224412
NM_014874.4(MFN2):c.1496-18C>T
NM_014874.4(MFN2):c.1496-8C>G rs1639377731
NM_014874.4(MFN2):c.1512C>T (p.Leu504=)
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
NM_014874.4(MFN2):c.1677C>T (p.Pro559=)
NM_014874.4(MFN2):c.1686C>T (p.Ser562=) rs1210577569
NM_014874.4(MFN2):c.1689T>C (p.Arg563=)
NM_014874.4(MFN2):c.168C>T (p.Phe56=)
NM_014874.4(MFN2):c.1716+10G>C
NM_014874.4(MFN2):c.1716+16C>A rs2100853696
NM_014874.4(MFN2):c.1716+16C>T rs2100853696
NM_014874.4(MFN2):c.1716+19C>A
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014874.4(MFN2):c.1717-19C>G
NM_014874.4(MFN2):c.1717-5C>T rs1639425658
NM_014874.4(MFN2):c.1717-8C>G
NM_014874.4(MFN2):c.1717-9_1717-6del rs746359726
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1731C>T (p.Ile577=)
NM_014874.4(MFN2):c.175+13C>T
NM_014874.4(MFN2):c.175+8G>T
NM_014874.4(MFN2):c.176-15A>G rs2100812418
NM_014874.4(MFN2):c.176-16C>T
NM_014874.4(MFN2):c.176-19T>G
NM_014874.4(MFN2):c.176-4C>G rs546254672
NM_014874.4(MFN2):c.176-8A>C rs1189123888
NM_014874.4(MFN2):c.1782C>A (p.Leu594=) rs950932066
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
NM_014874.4(MFN2):c.180G>T (p.Thr60=)
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
NM_014874.4(MFN2):c.1833A>T (p.Thr611=) rs2100856355
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1872+17G>T
NM_014874.4(MFN2):c.1873-13A>C
NM_014874.4(MFN2):c.1873-19C>T
NM_014874.4(MFN2):c.1884A>G (p.Ala628=) rs2100857953
NM_014874.4(MFN2):c.1890C>G (p.Gly630=)
NM_014874.4(MFN2):c.189T>C (p.Asn63=) rs2100812512
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1938C>T (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.1980C>T (p.Ala660=) rs2100858469
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
NM_014874.4(MFN2):c.201C>T (p.Asp67=) rs1553141644
NM_014874.4(MFN2):c.2028C>T (p.Val676=) rs780836559
NM_014874.4(MFN2):c.2031C>T (p.Ile677=)
NM_014874.4(MFN2):c.2052C>T (p.Cys684=)
NM_014874.4(MFN2):c.2058C>T (p.His686=) rs1040857073
NM_014874.4(MFN2):c.2069+13G>C rs766629075
NM_014874.4(MFN2):c.2069+15C>G rs375924621
NM_014874.4(MFN2):c.2069+20C>A
NM_014874.4(MFN2):c.2070-11C>T rs759614417
NM_014874.4(MFN2):c.2070-14T>C
NM_014874.4(MFN2):c.2070-16T>C
NM_014874.4(MFN2):c.2070-16TC[5]
NM_014874.4(MFN2):c.2070-4C>T
NM_014874.4(MFN2):c.2070-6C>A rs752898934
NM_014874.4(MFN2):c.2070-7_2070-5del
NM_014874.4(MFN2):c.2070-8C>G
NM_014874.4(MFN2):c.2070-8C>T rs1321940926
NM_014874.4(MFN2):c.207T>C (p.Val69=)
NM_014874.4(MFN2):c.210C>T (p.Thr70=)
NM_014874.4(MFN2):c.2118C>G (p.Thr706=) rs1281194317
NM_014874.4(MFN2):c.2202C>G (p.Leu734=)
NM_014874.4(MFN2):c.2204+19G>C
NM_014874.4(MFN2):c.2205-15A>T rs2100874408
NM_014874.4(MFN2):c.2205-15dup
NM_014874.4(MFN2):c.2205-4G>A
NM_014874.4(MFN2):c.2214C>T (p.Ala738=) rs781669282
NM_014874.4(MFN2):c.2232G>A (p.Glu744=) rs756693072
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
NM_014874.4(MFN2):c.2269A>C (p.Arg757=) rs1639700136
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
NM_014874.4(MFN2):c.246A>C (p.Leu82=)
NM_014874.4(MFN2):c.249C>G (p.Ser83=)
NM_014874.4(MFN2):c.264C>T (p.Ile88=) rs1553141680
NM_014874.4(MFN2):c.273G>A (p.Val91=)
NM_014874.4(MFN2):c.273G>T (p.Val91=)
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
NM_014874.4(MFN2):c.283A>C (p.Arg95=) rs1060501920
NM_014874.4(MFN2):c.288C>T (p.His96=) rs779756767
NM_014874.4(MFN2):c.311+14_311+15delinsTT rs2100813069
NM_014874.4(MFN2):c.311+7C>G
NM_014874.4(MFN2):c.311+7C>T
NM_014874.4(MFN2):c.312-10T>C
NM_014874.4(MFN2):c.312-18G>A
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
NM_014874.4(MFN2):c.351C>T (p.Leu117=) rs1468573342
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
NM_014874.4(MFN2):c.366G>A (p.Leu122=) rs2100822411
NM_014874.4(MFN2):c.369C>G (p.Pro123=) rs1393819397
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
NM_014874.4(MFN2):c.459A>G (p.Glu153=)
NM_014874.4(MFN2):c.462G>A (p.Lys154=) rs1255624199
NM_014874.4(MFN2):c.475-12C>T
NM_014874.4(MFN2):c.475-17C>G
NM_014874.4(MFN2):c.475-4T>A
NM_014874.4(MFN2):c.475-5A>G
NM_014874.4(MFN2):c.504C>T (p.His168=) rs2100826193
NM_014874.4(MFN2):c.510C>T (p.Asp170=) rs2100826208
NM_014874.4(MFN2):c.552C>T (p.Pro184=) rs2100826374
NM_014874.4(MFN2):c.555C>T (p.Asn185=) rs755790687
NM_014874.4(MFN2):c.597C>T (p.Asp199=)
NM_014874.4(MFN2):c.599+19C>T
NM_014874.4(MFN2):c.599+9G>A
NM_014874.4(MFN2):c.600-11G>C
NM_014874.4(MFN2):c.600-13_600-12del
NM_014874.4(MFN2):c.600-14C>T
NM_014874.4(MFN2):c.600-8_600-7dup rs761842762
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
NM_014874.4(MFN2):c.66T>C (p.Ala22=)
NM_014874.4(MFN2):c.675G>A (p.Leu225=)
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_014874.4(MFN2):c.708+9del
NM_014874.4(MFN2):c.709-19G>A
NM_014874.4(MFN2):c.744C>G (p.Leu248=) rs61733205
NM_014874.4(MFN2):c.747C>T (p.Ser249=)
NM_014874.4(MFN2):c.750G>A (p.Arg250=) rs1639056984
NM_014874.4(MFN2):c.768G>A (p.Leu256=) rs2100832631
NM_014874.4(MFN2):c.816+16T>C
NM_014874.4(MFN2):c.816+18G>A rs2100832894
NM_014874.4(MFN2):c.816+9T>G
NM_014874.4(MFN2):c.817-14T>G
NM_014874.4(MFN2):c.817-18C>T
NM_014874.4(MFN2):c.817-19A>C
NM_014874.4(MFN2):c.817-19A>G
NM_014874.4(MFN2):c.858G>A (p.Val286=)
NM_014874.4(MFN2):c.861T>C (p.Asp287=)
NM_014874.4(MFN2):c.864G>A (p.Glu288=) rs1569851796
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
NM_014874.4(MFN2):c.912G>A (p.Val304=)
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.970+8T>C rs2100839593
NM_014874.4(MFN2):c.970+9G>A rs2100839595
NM_014874.4(MFN2):c.971-4C>G
NM_014874.4(MFN2):c.971-5C>T
NM_014874.4(MFN2):c.971-8C>T rs780000309
NM_014874.4(MFN2):c.981C>T (p.Leu327=) rs747677218
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
NM_030973.4(MED25):c.1014A>G (p.Pro338=) rs1034116832
NM_030973.4(MED25):c.1026C>G (p.Ser342=) rs1600325797
NM_030973.4(MED25):c.102G>A (p.Gly34=) rs755369870
NM_030973.4(MED25):c.102G>T (p.Gly34=) rs755369870
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
NM_030973.4(MED25):c.1041C>T (p.Val347=) rs1555802298
NM_030973.4(MED25):c.105C>G (p.Leu35=)
NM_030973.4(MED25):c.105C>T (p.Leu35=)
NM_030973.4(MED25):c.1065C>A (p.Gly355=) rs779070350
NM_030973.4(MED25):c.1068G>A (p.Leu356=) rs2074050942
NM_030973.4(MED25):c.1077G>A (p.Thr359=)
NM_030973.4(MED25):c.1101+14C>T
NM_030973.4(MED25):c.1101+15G>A
NM_030973.4(MED25):c.1101+8C>T
NM_030973.4(MED25):c.1102-13T>G
NM_030973.4(MED25):c.1102-14C>T rs748971798
NM_030973.4(MED25):c.1102-4G>T
NM_030973.4(MED25):c.1107C>T (p.Gly369=) rs1450112631
NM_030973.4(MED25):c.1116C>G (p.Ala372=)
NM_030973.4(MED25):c.1128G>A (p.Val376=)
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
NM_030973.4(MED25):c.114C>T (p.His38=) rs2073954243
NM_030973.4(MED25):c.1176G>A (p.Gln392=)
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
NM_030973.4(MED25):c.1198C>T (p.Leu400=) rs778576788
NM_030973.4(MED25):c.1203C>T (p.Ala401=) rs1322031888
NM_030973.4(MED25):c.1230+11dup
NM_030973.4(MED25):c.1230+12G>C
NM_030973.4(MED25):c.1230+20A>G
NM_030973.4(MED25):c.1230+7G>A
NM_030973.4(MED25):c.1231-16C>T
NM_030973.4(MED25):c.1231-20T>G
NM_030973.4(MED25):c.123C>G (p.Leu41=)
NM_030973.4(MED25):c.123C>T (p.Leu41=)
NM_030973.4(MED25):c.1263C>G (p.Thr421=)
NM_030973.4(MED25):c.1272G>A (p.Thr424=)
NM_030973.4(MED25):c.1275G>A (p.Arg425=)
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
NM_030973.4(MED25):c.1316+12T>C
NM_030973.4(MED25):c.1316+14_1316+15del
NM_030973.4(MED25):c.1316+18G>A
NM_030973.4(MED25):c.1316+20G>A
NM_030973.4(MED25):c.1316+20G>C rs533964778
NM_030973.4(MED25):c.1316+8A>G
NM_030973.4(MED25):c.1317-16del rs748829394
NM_030973.4(MED25):c.1317-19C>T
NM_030973.4(MED25):c.1317-20T>C
NM_030973.4(MED25):c.1317-8G>A rs1036590547
NM_030973.4(MED25):c.1317-8G>T rs1036590547
NM_030973.4(MED25):c.1323G>A (p.Thr441=)
NM_030973.4(MED25):c.134+14C>T
NM_030973.4(MED25):c.134+15C>T
NM_030973.4(MED25):c.134+17C>T
NM_030973.4(MED25):c.134+8C>T rs2123860485
NM_030973.4(MED25):c.135-11T>C
NM_030973.4(MED25):c.135-12C>G
NM_030973.4(MED25):c.135-12C>T
NM_030973.4(MED25):c.135-15T>C
NM_030973.4(MED25):c.135-15T>G rs1256237742
NM_030973.4(MED25):c.135-17A>G
NM_030973.4(MED25):c.135-5C>T rs758925407
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
NM_030973.4(MED25):c.1374+18G>A
NM_030973.4(MED25):c.1375-10T>A
NM_030973.4(MED25):c.1375-15C>T
NM_030973.4(MED25):c.1375-16T>C
NM_030973.4(MED25):c.1375-5dup
NM_030973.4(MED25):c.1375-7C>T rs2123882866
NM_030973.4(MED25):c.1377C>A (p.Thr459=)
NM_030973.4(MED25):c.138T>C (p.Tyr46=) rs758573961
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
NM_030973.4(MED25):c.1482+12G>A
NM_030973.4(MED25):c.1482+14A>G
NM_030973.4(MED25):c.1482+16G>A
NM_030973.4(MED25):c.1482+9A>G rs2123883050
NM_030973.4(MED25):c.1483-13G>A rs886054581
NM_030973.4(MED25):c.1491C>T (p.Cys497=)
NM_030973.4(MED25):c.1497C>T (p.His499=) rs2074084856
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
NM_030973.4(MED25):c.1527C>G (p.Arg509=)
NM_030973.4(MED25):c.1548G>A (p.Ser516=)
NM_030973.4(MED25):c.1548G>C (p.Ser516=) rs370402922
NM_030973.4(MED25):c.1599C>T (p.Phe533=)
NM_030973.4(MED25):c.15C>T (p.Ser5=) rs1568617655
NM_030973.4(MED25):c.1602C>T (p.Val534=)
NM_030973.4(MED25):c.1674+17C>T
NM_030973.4(MED25):c.1674+19C>G rs752522
NM_030973.4(MED25):c.1674+8T>A
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
NM_030973.4(MED25):c.1702C>T (p.Leu568=)
NM_030973.4(MED25):c.1704G>A (p.Leu568=) rs1222662917
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
NM_030973.4(MED25):c.1731G>A (p.Arg577=)
NM_030973.4(MED25):c.1734C>T (p.Pro578=) rs2074090173
NM_030973.4(MED25):c.1746+18G>A
NM_030973.4(MED25):c.1746+20G>A rs2123887846
NM_030973.4(MED25):c.1746+9A>G rs1600330946
NM_030973.4(MED25):c.1747-14dup
NM_030973.4(MED25):c.1747-18T>C rs759379519
NM_030973.4(MED25):c.1747-18del
NM_030973.4(MED25):c.1747-20C>T
NM_030973.4(MED25):c.1749C>A (p.Leu583=)
NM_030973.4(MED25):c.174G>A (p.Gly58=) rs773338897
NM_030973.4(MED25):c.1755C>G (p.Leu585=) rs1004381819
NM_030973.4(MED25):c.1761A>T (p.Pro587=) rs1568625500
NM_030973.4(MED25):c.1788A>G (p.Val596=)
NM_030973.4(MED25):c.1806G>A (p.Thr602=)
NM_030973.4(MED25):c.181-14T>C
NM_030973.4(MED25):c.181-17C>G
NM_030973.4(MED25):c.181-20T>C
NM_030973.4(MED25):c.181-4C>T rs2123862076
NM_030973.4(MED25):c.181-8C>T
NM_030973.4(MED25):c.181-9C>T
NM_030973.4(MED25):c.1830T>G (p.Thr610=)
NM_030973.4(MED25):c.1833C>G (p.Ala611=)
NM_030973.4(MED25):c.1842G>A (p.Pro614=)
NM_030973.4(MED25):c.1842G>C (p.Pro614=) rs368884119
NM_030973.4(MED25):c.1857A>G (p.Gln619=)
NM_030973.4(MED25):c.186G>C (p.Gly62=)
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
NM_030973.4(MED25):c.189G>A (p.Gly63=)
NM_030973.4(MED25):c.1902C>T (p.Ile634=)
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
NM_030973.4(MED25):c.1920T>C (p.Pro640=) rs1600331507
NM_030973.4(MED25):c.192C>A (p.Thr64=)
NM_030973.4(MED25):c.1953C>T (p.Leu651=) rs2123888595
NM_030973.4(MED25):c.1965+14G>T
NM_030973.4(MED25):c.1965+16G>C rs1005068403
NM_030973.4(MED25):c.1965+16G>T
NM_030973.4(MED25):c.1966-10_1966-9del rs778581967
NM_030973.4(MED25):c.1966-15T>C
NM_030973.4(MED25):c.1966-18CT[2]
NM_030973.4(MED25):c.1966-5C>G
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2055C>T (p.Gly685=)
NM_030973.4(MED25):c.2061G>A (p.Gly687=) rs751782742
NM_030973.4(MED25):c.2082A>G (p.Pro694=)
NM_030973.4(MED25):c.2085C>T (p.Leu695=) rs1600332106
NM_030973.4(MED25):c.2109C>T (p.Ser703=)
NM_030973.4(MED25):c.210G>A (p.Val70=)
NM_030973.4(MED25):c.2121A>G (p.Gln707=)
NM_030973.4(MED25):c.2130T>A (p.Pro710=) rs1600332188
NM_030973.4(MED25):c.2146+13G>A
NM_030973.4(MED25):c.2146+8G>A
NM_030973.4(MED25):c.2146+9A>C
NM_030973.4(MED25):c.2147-13C>T
NM_030973.4(MED25):c.2147-19C>T
NM_030973.4(MED25):c.2160G>A (p.Leu720=)
NM_030973.4(MED25):c.2181G>C (p.Pro727=)
NM_030973.4(MED25):c.2181G>T (p.Pro727=) rs775431728
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
NM_030973.4(MED25):c.2220C>T (p.Asp740=)
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.234C>T (p.Pro78=) rs74863643
NM_030973.4(MED25):c.243C>T (p.Tyr81=) rs2123862187
NM_030973.4(MED25):c.273C>T (p.Ala91=) rs1600313252
NM_030973.4(MED25):c.288C>G (p.Thr96=) rs2123862300
NM_030973.4(MED25):c.294C>G (p.Leu98=) rs140379422
NM_030973.4(MED25):c.294C>T (p.Leu98=) rs140379422
NM_030973.4(MED25):c.305+14C>G rs773627830
NM_030973.4(MED25):c.305+14C>T
NM_030973.4(MED25):c.305+15A>G rs2123862362
NM_030973.4(MED25):c.305+7T>C
NM_030973.4(MED25):c.306-15G>A
NM_030973.4(MED25):c.306-16C>A
NM_030973.4(MED25):c.306-16C>T
NM_030973.4(MED25):c.306-6C>T
NM_030973.4(MED25):c.342C>A (p.Ile114=)
NM_030973.4(MED25):c.345G>A (p.Ala115=)
NM_030973.4(MED25):c.357C>T (p.Ser119=)
NM_030973.4(MED25):c.36G>C (p.Gly12=)
NM_030973.4(MED25):c.372G>C (p.Leu124=) rs765814691
NM_030973.4(MED25):c.404+12dup
NM_030973.4(MED25):c.405-12C>T
NM_030973.4(MED25):c.405-16C>A
NM_030973.4(MED25):c.405-18T>C
NM_030973.4(MED25):c.405-20T>A
NM_030973.4(MED25):c.405-4G>A
NM_030973.4(MED25):c.405-5G>C
NM_030973.4(MED25):c.405-8C>A
NM_030973.4(MED25):c.414G>A (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.414G>C (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.432C>T (p.Leu144=) rs150534771
NM_030973.4(MED25):c.438C>T (p.Cys146=)
NM_030973.4(MED25):c.48C>T (p.Ala16=)
NM_030973.4(MED25):c.525+11C>T
NM_030973.4(MED25):c.525+12A>G
NM_030973.4(MED25):c.526-11C>T
NM_030973.4(MED25):c.526-13C>T
NM_030973.4(MED25):c.526-17C>T
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.588G>A (p.Glu196=)
NM_030973.4(MED25):c.597C>G (p.Ala199=) rs149788020
NM_030973.4(MED25):c.597C>T (p.Ala199=) rs149788020
NM_030973.4(MED25):c.600C>A (p.Pro200=)
NM_030973.4(MED25):c.600C>G (p.Pro200=) rs753910880
NM_030973.4(MED25):c.603G>A (p.Pro201=)
NM_030973.4(MED25):c.603G>C (p.Pro201=) rs546857153
NM_030973.4(MED25):c.610C>T (p.Leu204=) rs2123878440
NM_030973.4(MED25):c.630G>A (p.Pro210=)
NM_030973.4(MED25):c.633A>G (p.Thr211=) rs369117035
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035
NM_030973.4(MED25):c.688+14A>G
NM_030973.4(MED25):c.689-18C>T
NM_030973.4(MED25):c.689-5C>T
NM_030973.4(MED25):c.6C>T (p.Val2=)
NM_030973.4(MED25):c.705C>G (p.Ala235=)
NM_030973.4(MED25):c.735C>G (p.Val245=) rs774587834
NM_030973.4(MED25):c.739C>T (p.Leu247=)
NM_030973.4(MED25):c.750C>G (p.Ala250=) rs1397405011
NM_030973.4(MED25):c.750C>T (p.Ala250=)
NM_030973.4(MED25):c.774A>G (p.Ser258=)
NM_030973.4(MED25):c.78C>T (p.Ala26=)
NM_030973.4(MED25):c.804C>T (p.Val268=)
NM_030973.4(MED25):c.819+19A>G
NM_030973.4(MED25):c.819+7A>G
NM_030973.4(MED25):c.819+9A>G
NM_030973.4(MED25):c.820-10C>T
NM_030973.4(MED25):c.820-11T>G
NM_030973.4(MED25):c.820-12T>C
NM_030973.4(MED25):c.820-16_820-9del
NM_030973.4(MED25):c.820-4A>G rs2074047442
NM_030973.4(MED25):c.820-5C>T
NM_030973.4(MED25):c.820-5del
NM_030973.4(MED25):c.825C>G (p.Pro275=) rs771874021
NM_030973.4(MED25):c.867G>A (p.Val289=) rs202119489
NM_030973.4(MED25):c.87A>G (p.Gly29=)
NM_030973.4(MED25):c.888G>A (p.Lys296=) rs2123879803
NM_030973.4(MED25):c.891T>C (p.Ala297=)
NM_030973.4(MED25):c.895C>T (p.Leu299=)
NM_030973.4(MED25):c.897G>A (p.Leu299=) rs1394654443
NM_030973.4(MED25):c.903T>G (p.Pro301=)
NM_030973.4(MED25):c.908-6C>A
NM_030973.4(MED25):c.915C>A (p.Pro305=)
NM_030973.4(MED25):c.939T>A (p.Ala313=)
NM_030973.4(MED25):c.945A>C (p.Gly315=) rs2123880035
NM_030973.4(MED25):c.969C>T (p.Ala323=)
NM_170707.4(LMNA):c.1005G>A (p.Arg335=) rs2102887328
NM_170707.4(LMNA):c.1009C>T (p.Leu337=)
NM_170707.4(LMNA):c.1026G>A (p.Glu342=)
NM_170707.4(LMNA):c.1027C>A (p.Arg343=) rs749784223
NM_170707.4(LMNA):c.1029G>C (p.Arg343=) rs1553265680
NM_170707.4(LMNA):c.102C>T (p.Asp34=)
NM_170707.4(LMNA):c.1032G>A (p.Glu344=)
NM_170707.4(LMNA):c.103C>T (p.Leu35=)
NM_170707.4(LMNA):c.1050A>G (p.Ala350=)
NM_170707.4(LMNA):c.1062G>A (p.Gln354=)
NM_170707.4(LMNA):c.1068G>A (p.Leu356=)
NM_170707.4(LMNA):c.1077C>T (p.Tyr359=) rs1651568187
NM_170707.4(LMNA):c.1089G>A (p.Leu363=)
NM_170707.4(LMNA):c.1095C>A (p.Ile365=)
NM_170707.4(LMNA):c.1116G>A (p.Glu372=) rs1553265736
NM_170707.4(LMNA):c.1119C>T (p.Ile373=)
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1157+12A>G
NM_170707.4(LMNA):c.1157+13G>A
NM_170707.4(LMNA):c.1157+16G>T
NM_170707.4(LMNA):c.1157+22G>A
NM_170707.4(LMNA):c.1157+30G>A
NM_170707.4(LMNA):c.1157+40T>G
NM_170707.4(LMNA):c.1157+45C>G
NM_170707.4(LMNA):c.1157+46C>T
NM_170707.4(LMNA):c.1157+7T>C
NM_170707.4(LMNA):c.1157+8G>T
NM_170707.4(LMNA):c.1158-10C>T rs1572363723
NM_170707.4(LMNA):c.1158-14C>T rs1651595760
NM_170707.4(LMNA):c.1158-16G>A
NM_170707.4(LMNA):c.1158-16G>T
NM_170707.4(LMNA):c.1158-17G>T
NM_170707.4(LMNA):c.1158-46G>A
NM_170707.4(LMNA):c.1158-4C>A rs2102889270
NM_170707.4(LMNA):c.1158-5C>G rs1328158335
NM_170707.4(LMNA):c.1158-6C>T rs1375538892
NM_170707.4(LMNA):c.1158-7T>C
NM_170707.4(LMNA):c.1165C>T (p.Leu389=)
NM_170707.4(LMNA):c.1167G>A (p.Leu389=)
NM_170707.4(LMNA):c.1170C>T (p.Ser390=) rs2102889456
NM_170707.4(LMNA):c.1173C>T (p.Pro391=) rs1553265807
NM_170707.4(LMNA):c.1176C>T (p.Ser392=) rs1045472115
NM_170707.4(LMNA):c.1179T>C (p.Pro393=) rs1651603737
NM_170707.4(LMNA):c.1182C>G (p.Thr394=)
NM_170707.4(LMNA):c.1185G>T (p.Ser395=) rs397517890
NM_170707.4(LMNA):c.1197T>C (p.Arg399=)
NM_170707.4(LMNA):c.1203T>G (p.Arg401=)
NM_170707.4(LMNA):c.1209C>T (p.Ser403=) rs776975256
NM_170707.4(LMNA):c.1215C>T (p.His405=)
NM_170707.4(LMNA):c.1218A>G (p.Ser406=) rs1651612863
NM_170707.4(LMNA):c.1227A>T (p.Thr409=)
NM_170707.4(LMNA):c.1236G>A (p.Gly412=) rs763537103
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
NM_170707.4(LMNA):c.1242C>T (p.Ser414=) rs184946451
NM_170707.4(LMNA):c.124T>C (p.Leu42=)
NM_170707.4(LMNA):c.1254G>A (p.Lys418=) rs2102890270
NM_170707.4(LMNA):c.1257C>T (p.Arg419=)
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.1272T>C (p.Thr424=)
NM_170707.4(LMNA):c.1278C>T (p.Ser426=)
NM_170707.4(LMNA):c.129G>C (p.Ala43=)
NM_170707.4(LMNA):c.12G>C (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1302A>G (p.Ala434=)
NM_170707.4(LMNA):c.1305C>T (p.Arg435=)
NM_170707.4(LMNA):c.1314G>T (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1317C>T (p.Arg439=) rs374804871
NM_170707.4(LMNA):c.1323C>A (p.Ala441=) rs140194535
NM_170707.4(LMNA):c.1323C>G (p.Ala441=)
NM_170707.4(LMNA):c.1323C>T (p.Ala441=) rs140194535
NM_170707.4(LMNA):c.132C>T (p.Val44=) rs762049172
NM_170707.4(LMNA):c.1335G>A (p.Val445=)
NM_170707.4(LMNA):c.1350G>A (p.Lys450=) rs2102891265
NM_170707.4(LMNA):c.1356C>A (p.Val452=) rs1572364681
NM_170707.4(LMNA):c.1359G>A (p.Arg453=) rs1321318572
NM_170707.4(LMNA):c.1374C>T (p.Ser458=) rs1572364784
NM_170707.4(LMNA):c.1377T>C (p.Asn459=)
NM_170707.4(LMNA):c.1380+13T>C
NM_170707.4(LMNA):c.1380+14C>G
NM_170707.4(LMNA):c.1380+17G>A rs2102891710
NM_170707.4(LMNA):c.1380+9C>T
NM_170707.4(LMNA):c.1381-14T>G
NM_170707.4(LMNA):c.1381-17C>A rs1435399655
NM_170707.4(LMNA):c.1381-5G>T
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1383C>T (p.Asp461=) rs1278554399
NM_170707.4(LMNA):c.1386G>A (p.Gln462=)
NM_170707.4(LMNA):c.138C>T (p.Ile46=) rs1553261914
NM_170707.4(LMNA):c.1398T>C (p.Asn466=)
NM_170707.4(LMNA):c.1407C>A (p.Ile469=) rs1471045711
NM_170707.4(LMNA):c.1413C>A (p.Arg471=)
NM_170707.4(LMNA):c.1413C>G (p.Arg471=) rs1572365626
NM_170707.4(LMNA):c.141C>T (p.Asp47=) rs1649715628
NM_170707.4(LMNA):c.1488+12G>C
NM_170707.4(LMNA):c.1488+17T>C
NM_170707.4(LMNA):c.1489-16C>T rs201379016
NM_170707.4(LMNA):c.1489-16del rs769175090
NM_170707.4(LMNA):c.1489-17C>A
NM_170707.4(LMNA):c.1489-17C>T
NM_170707.4(LMNA):c.1489-8C>T
NM_170707.4(LMNA):c.1497T>A (p.Ala499=) rs1431212733
NM_170707.4(LMNA):c.1500A>G (p.Ala500=) rs2102894981
NM_170707.4(LMNA):c.1524C>A (p.Pro508=)
NM_170707.4(LMNA):c.1530C>A (p.Thr510=)
NM_170707.4(LMNA):c.1534C>T (p.Leu512=) rs2102895384
NM_170707.4(LMNA):c.1536G>A (p.Leu512=) rs1208359364
NM_170707.4(LMNA):c.1539G>A (p.Val513=) rs2102895431
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1578G>T (p.Leu526=) rs1205674172
NM_170707.4(LMNA):c.1584G>C (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1593C>A (p.Ile531=) rs1651734080
NM_170707.4(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.4(LMNA):c.15C>T (p.Ser5=) rs1572331734
NM_170707.4(LMNA):c.1602T>C (p.Thr534=) rs781763410
NM_170707.4(LMNA):c.1608+14G>A
NM_170707.4(LMNA):c.1608+15del
NM_170707.4(LMNA):c.1608+16C>T
NM_170707.4(LMNA):c.1609-16T>C
NM_170707.4(LMNA):c.1609-19G>C
NM_170707.4(LMNA):c.1609-4C>T rs1553266259
NM_170707.4(LMNA):c.1609-6C>T rs1462219411
NM_170707.4(LMNA):c.1609-7C>T rs1372108861
NM_170707.4(LMNA):c.1609-8C>G rs879253917
NM_170707.4(LMNA):c.1609-9C>A rs1057522558
NM_170707.4(LMNA):c.1609-9C>T rs1057522558
NM_170707.4(LMNA):c.1617C>G (p.Ala539=) rs1326511337
NM_170707.4(LMNA):c.1627C>T (p.Leu543=)
NM_170707.4(LMNA):c.162G>A (p.Thr54=) rs1649719337
NM_170707.4(LMNA):c.1632G>A (p.Val544=)
NM_170707.4(LMNA):c.1644T>G (p.Thr548=) rs2102898288
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1699-17C>T
NM_170707.4(LMNA):c.1699-18C>G
NM_170707.4(LMNA):c.1699-9_1699-8del rs1572369030
NM_170707.4(LMNA):c.1701C>T (p.Gly567=) rs1174456476
NM_170707.4(LMNA):c.1722G>A (p.Gly574=)
NM_170707.4(LMNA):c.1725C>T (p.Asp575=)
NM_170707.4(LMNA):c.1737C>T (p.Tyr579=)
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1758G>A (p.Val586=) rs2102901371
NM_170707.4(LMNA):c.1759C>T (p.Leu587=) rs1252289177
NM_170707.4(LMNA):c.175C>T (p.Leu59=)
NM_170707.4(LMNA):c.1767G>T (p.Gly589=) rs1572369259
NM_170707.4(LMNA):c.1770C>G (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1785C>G (p.Ala595=)
NM_170707.4(LMNA):c.1788C>T (p.Asp596=)
NM_170707.4(LMNA):c.1794A>G (p.Ala598=)
NM_170707.4(LMNA):c.1809A>G (p.Ser603=) rs2102901712
NM_170707.4(LMNA):c.1812A>G (p.Gly604=) rs775835223
NM_170707.4(LMNA):c.1815C>A (p.Ala605=) rs2102901765
NM_170707.4(LMNA):c.1818G>A (p.Gln606=) rs1060504514
NM_170707.4(LMNA):c.1824C>A (p.Gly608=)
NM_170707.4(LMNA):c.1827A>T (p.Gly609=) rs1558135172
NM_170707.4(LMNA):c.1854C>T (p.Ser618=)
NM_170707.4(LMNA):c.1863G>C (p.Thr621=)
NM_170707.4(LMNA):c.1884T>C (p.Ser628=)
NM_170707.4(LMNA):c.1887G>T (p.Val629=)
NM_170707.4(LMNA):c.1890G>C (p.Gly630=) rs770389147
NM_170707.4(LMNA):c.1893C>A (p.Gly631=) rs2102902282
NM_170707.4(LMNA):c.1899G>A (p.Gly633=) rs1572369732
NM_170707.4(LMNA):c.189C>A (p.Ile63=) rs767976986
NM_170707.4(LMNA):c.1902T>C (p.Gly634=) rs1572369763
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu) rs117939448
NM_170707.4(LMNA):c.1920T>C (p.Asn640=)
NM_170707.4(LMNA):c.1923G>A (p.Leu641=)
NM_170707.4(LMNA):c.1923G>C (p.Leu641=)
NM_170707.4(LMNA):c.1926C>T (p.Val642=)
NM_170707.4(LMNA):c.1935C>T (p.Ser645=)
NM_170707.4(LMNA):c.1941C>T (p.Leu647=) rs984562109
NM_170707.4(LMNA):c.195G>A (p.Glu65=)
NM_170707.4(LMNA):c.1965C>G (p.Thr655=)
NM_170707.4(LMNA):c.1965C>T (p.Thr655=)
NM_170707.4(LMNA):c.1968+19G>C
NM_170707.4(LMNA):c.1969-11T>C
NM_170707.4(LMNA):c.1969-14G>C
NM_170707.4(LMNA):c.1969-18_1969-16del
NM_170707.4(LMNA):c.1969-8T>C
NM_170707.4(LMNA):c.1971C>T (p.Ser657=) rs1023544978
NM_170707.4(LMNA):c.1995A>G (p.Ter665=)
NM_170707.4(LMNA):c.204G>A (p.Glu68=)
NM_170707.4(LMNA):c.207G>A (p.Val69=)
NM_170707.4(LMNA):c.210C>A (p.Val70=)
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
NM_170707.4(LMNA):c.21G>C (p.Arg7=) rs2102816901
NM_170707.4(LMNA):c.243C>T (p.Tyr81=) rs2102818502
NM_170707.4(LMNA):c.249C>G (p.Ala83=) rs746916710
NM_170707.4(LMNA):c.249C>T (p.Ala83=) rs746916710
NM_170707.4(LMNA):c.24C>A (p.Arg8=) rs1337375663
NM_170707.4(LMNA):c.261T>C (p.Asp87=) rs397517900
NM_170707.4(LMNA):c.273C>T (p.Thr91=) rs1649734316
NM_170707.4(LMNA):c.282A>G (p.Ser94=)
NM_170707.4(LMNA):c.297C>T (p.Arg99=)
NM_170707.4(LMNA):c.304C>T (p.Leu102=)
NM_170707.4(LMNA):c.306G>A (p.Leu102=)
NM_170707.4(LMNA):c.312G>C (p.Leu104=)
NM_170707.4(LMNA):c.318G>C (p.Leu106=)
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.354G>A (p.Ala118=) rs2102819179
NM_170707.4(LMNA):c.356+10C>A rs2102819259
NM_170707.4(LMNA):c.356+15G>A
NM_170707.4(LMNA):c.356+17G>T
NM_170707.4(LMNA):c.357-18C>G
NM_170707.4(LMNA):c.357-18C>T
NM_170707.4(LMNA):c.357-6C>G
NM_170707.4(LMNA):c.357-9C>T rs1186195332
NM_170707.4(LMNA):c.36C>T (p.Ser12=)
NM_170707.4(LMNA):c.372G>A (p.Glu124=) rs1572352924
NM_170707.4(LMNA):c.375T>C (p.Gly125=) rs1164862537
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
NM_170707.4(LMNA):c.379C>T (p.Leu127=) rs1428192739
NM_170707.4(LMNA):c.381G>C (p.Leu127=)
NM_170707.4(LMNA):c.384A>T (p.Ile128=)
NM_170707.4(LMNA):c.393G>A (p.Gln131=)
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
NM_170707.4(LMNA):c.423G>A (p.Leu141=) rs2102865822
NM_170707.4(LMNA):c.435G>A (p.Glu145=) rs1228858436
NM_170707.4(LMNA):c.441A>T (p.Ala147=)
NM_170707.4(LMNA):c.472C>T (p.Leu158=) rs2102866147
NM_170707.4(LMNA):c.495G>T (p.Leu165=) rs2102866374
NM_170707.4(LMNA):c.496C>A (p.Arg166=) rs370200334
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
NM_170707.4(LMNA):c.513+11C>A rs1331483345
NM_170707.4(LMNA):c.513+11C>T
NM_170707.4(LMNA):c.513+18G>A
NM_170707.4(LMNA):c.513+19G>T
NM_170707.4(LMNA):c.513+20C>T
NM_170707.4(LMNA):c.513+45T>C
NM_170707.4(LMNA):c.513+6_513+20dup
NM_170707.4(LMNA):c.513+8C>T rs1060504515
NM_170707.4(LMNA):c.514-7dup rs757260455
NM_170707.4(LMNA):c.525C>T (p.Ala175=)
NM_170707.4(LMNA):c.526C>T (p.Leu176=) rs149113760
NM_170707.4(LMNA):c.528A>T (p.Leu176=) rs1026599240
NM_170707.4(LMNA):c.531T>C (p.Gly177=)
NM_170707.4(LMNA):c.564G>A (p.Leu188=)
NM_170707.4(LMNA):c.570G>A (p.Arg190=)
NM_170707.4(LMNA):c.570G>C (p.Arg190=) rs2102878622
NM_170707.4(LMNA):c.582G>A (p.Glu194=)
NM_170707.4(LMNA):c.591G>A (p.Leu197=) rs886044049
NM_170707.4(LMNA):c.597C>T (p.Thr199=)
NM_170707.4(LMNA):c.609A>G (p.Glu203=) rs2102879074
NM_170707.4(LMNA):c.610C>T (p.Leu204=)
NM_170707.4(LMNA):c.615C>T (p.Asp205=)
NM_170707.4(LMNA):c.624G>A (p.Lys208=) rs1651355363
NM_170707.4(LMNA):c.639+10G>C rs1266133241
NM_170707.4(LMNA):c.639+11T>C
NM_170707.4(LMNA):c.639+12G>T
NM_170707.4(LMNA):c.639+13del
NM_170707.4(LMNA):c.639+18C>T
NM_170707.4(LMNA):c.639+9T>C rs745768694
NM_170707.4(LMNA):c.640-11A>T
NM_170707.4(LMNA):c.640-11_640-7dup
NM_170707.4(LMNA):c.640-15del rs2102880354
NM_170707.4(LMNA):c.640-16C>T
NM_170707.4(LMNA):c.640-20C>T
NM_170707.4(LMNA):c.640-7C>G
NM_170707.4(LMNA):c.645G>A (p.Leu215=)
NM_170707.4(LMNA):c.645G>C (p.Leu215=)
NM_170707.4(LMNA):c.66G>A (p.Ser22=)
NM_170707.4(LMNA):c.678G>T (p.Leu226=)
NM_170707.4(LMNA):c.687T>C (p.Ile229=) rs2102880818
NM_170707.4(LMNA):c.696G>C (p.Gly232=)
NM_170707.4(LMNA):c.699G>A (p.Lys233=) rs1340480656
NM_170707.4(LMNA):c.711T>C (p.Phe237=) rs768081358
NM_170707.4(LMNA):c.729T>C (p.Asp243=) rs753243743
NM_170707.4(LMNA):c.72C>T (p.Thr24=) rs1572331957
NM_170707.4(LMNA):c.744G>C (p.Leu248=)
NM_170707.4(LMNA):c.750C>T (p.Ala250=) rs2102881551
NM_170707.4(LMNA):c.756T>C (p.His252=)
NM_170707.4(LMNA):c.75C>T (p.Arg25=) rs80356804
NM_170707.4(LMNA):c.765G>A (p.Gln255=) rs1651412868
NM_170707.4(LMNA):c.774G>A (p.Gln258=) rs2102881783
NM_170707.4(LMNA):c.786G>A (p.Glu262=)
NM_170707.4(LMNA):c.810+13G>A rs11264444
NM_170707.4(LMNA):c.810+15T>C
NM_170707.4(LMNA):c.810+17G>A rs771192755
NM_170707.4(LMNA):c.810+19T>C
NM_170707.4(LMNA):c.811-13T>C
NM_170707.4(LMNA):c.811-4C>G rs2102883092
NM_170707.4(LMNA):c.811-9C>A
NM_170707.4(LMNA):c.822C>G (p.Ala274=) rs1572360747
NM_170707.4(LMNA):c.843C>T (p.Asn281=) rs1651447057
NM_170707.4(LMNA):c.852G>A (p.Leu284=) rs1273837882
NM_170707.4(LMNA):c.852G>C (p.Leu284=) rs1273837882
NM_170707.4(LMNA):c.852G>T (p.Leu284=)
NM_170707.4(LMNA):c.873G>A (p.Glu291=)
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
NM_170707.4(LMNA):c.882G>A (p.Gln294=)
NM_170707.4(LMNA):c.888C>T (p.Arg296=)
NM_170707.4(LMNA):c.891C>T (p.Ile297=)
NM_170707.4(LMNA):c.894C>T (p.Arg298=)
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.909T>A (p.Ser303=) rs1432653704
NM_170707.4(LMNA):c.90G>A (p.Gln30=) rs1325971304
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.927C>T (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.936+10C>T
NM_170707.4(LMNA):c.936+15C>T rs2102884411
NM_170707.4(LMNA):c.936+16A>G
NM_170707.4(LMNA):c.936+17C>T
NM_170707.4(LMNA):c.937-11C>A rs267607645
NM_170707.4(LMNA):c.937-13C>T
NM_170707.4(LMNA):c.937-14C>T
NM_170707.4(LMNA):c.937-15C>T
NM_170707.4(LMNA):c.937-20A>G
NM_170707.4(LMNA):c.937-5T>C rs1001248677
NM_170707.4(LMNA):c.937-6C>A rs759083379
NM_170707.4(LMNA):c.937-6C>G
NM_170707.4(LMNA):c.937-6C>T rs759083379
NM_170707.4(LMNA):c.937-7C>A rs267607681
NM_170707.4(LMNA):c.937-7C>T rs267607681
NM_170707.4(LMNA):c.937-8C>G rs751707982
NM_170707.4(LMNA):c.937-8C>T rs751707982
NM_170707.4(LMNA):c.937-9C>A rs1332011298
NM_170707.4(LMNA):c.945C>T (p.Ala315=)
NM_170707.4(LMNA):c.951G>A (p.Glu317=) rs1278448557
NM_170707.4(LMNA):c.967C>T (p.Leu323=) rs1651541956
NM_170707.4(LMNA):c.969G>A (p.Leu323=) rs1558130869
NM_170707.4(LMNA):c.996C>T (p.Asp332=)

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