ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 6987
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_030973.4(MED25):c.688+17G>A rs373952366 0.00188
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00184
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
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_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
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_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00090
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_001605.3(AARS1):c.2608-6C>A rs200965527 0.00088
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_030973.4(MED25):c.638T>C (p.Val213Ala) rs144892223 0.00081
NM_001122955.4(BSCL2):c.487-14G>A rs189771133 0.00080
NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=) rs78013543 0.00080
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val) rs555357914 0.00072
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr) rs181912750 0.00071
NM_001365951.3(KIF1B):c.959-17A>G rs372958251 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001365951.3(KIF1B):c.184-19C>T rs184562782 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_030973.4(MED25):c.602C>T (p.Pro201Leu) rs144354024 0.00054
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 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.1435-15C>T rs371838261 0.00044
NM_001365951.3(KIF1B):c.4925G>A (p.Arg1642Lys) rs190124441 0.00044
NM_014874.4(MFN2):c.72G>T (p.Val24=) rs138454088 0.00044
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
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_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_001365951.3(KIF1B):c.4356A>G (p.Thr1452=) rs150358670 0.00038
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 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_014874.4(MFN2):c.1728C>T (p.Pro576=) rs147802404 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_030973.4(MED25):c.679G>A (p.Val227Met) rs369825113 0.00036
NM_001365951.3(KIF1B):c.429+13G>A rs199792028 0.00034
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_030973.4(MED25):c.2208C>T (p.Ser736=) rs376796439 0.00030
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 0.00028
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00026
NM_030973.4(MED25):c.404+16A>G rs190980102 0.00026
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.2159C>T (p.Thr720Ile) rs41274468 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_001605.3(AARS1):c.480-12C>G rs199728312 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_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
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_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_001605.3(AARS1):c.2520+19A>G rs376619331 0.00020
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser) rs138166258 0.00020
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001122955.4(BSCL2):c.785C>T (p.Ala262Val) rs140896339 0.00019
NM_001122955.4(BSCL2):c.992G>A (p.Arg331His) rs201229787 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_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 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_001365951.3(KIF1B):c.4824+15T>G rs201508062 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_030973.4(MED25):c.1482C>T (p.Phe494=) rs185234938 0.00018
NM_030973.4(MED25):c.247C>G (p.Gln83Glu) rs143148835 0.00018
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_001365951.3(KIF1B):c.3688+15C>T rs374936352 0.00017
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln) rs373439616 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_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn) rs769602520 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.1463A>G (p.Asn488Ser) rs147785658 0.00016
NM_014874.4(MFN2):c.2069+16G>A rs376673392 0.00016
NM_030973.4(MED25):c.733G>C (p.Val245Leu) rs771068558 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.1376G>A (p.Ser459Asn) rs375389310 0.00015
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_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
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.1108A>G (p.Met370Val) rs199976742 0.00014
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser) rs748803390 0.00014
NM_001605.3(AARS1):c.1938C>G (p.Thr646=) rs147822575 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.1287+13G>C rs543940912 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 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_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_030973.4(MED25):c.629C>T (p.Pro210Leu) rs370423922 0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala) rs201500946 0.00013
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr) rs145969842 0.00013
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_001605.3(AARS1):c.744A>G (p.Val248=) rs752618189 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.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.1786G>A (p.Val596Ile) rs369707406 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.1180+19G>A rs200480069 0.00012
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.2592C>T (p.Ser864=) rs11537665 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_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00011
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln) rs138072432 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_030973.4(MED25):c.286A>G (p.Thr96Ala) rs201460460 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.1313C>T (p.Pro438Leu) rs1473465067 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 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.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=) rs777419181 0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 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_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
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.3407T>C (p.Ile1136Thr) rs374098797 0.00009
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=) rs146436697 0.00009
NM_001365951.3(KIF1B):c.59C>T (p.Thr20Ile) rs538135467 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 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_014874.4(MFN2):c.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu) rs764267049 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_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His) rs761343609 0.00008
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_001605.3(AARS1):c.2105C>T (p.Pro702Leu) rs776471315 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.857T>C (p.Val286Ala) rs765825496 0.00008
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr) rs767338688 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 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_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) rs141377075 0.00007
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.4171C>T (p.Leu1391=) rs1035373795 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_001605.3(AARS1):c.622G>A (p.Asp208Asn) rs780893599 0.00007
NM_001605.3(AARS1):c.958C>T (p.Arg320Cys) rs138490305 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.175+14G>A rs202139103 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.1101+4G>A rs746210338 0.00007
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys) rs752175666 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.1147G>A (p.Gly383Arg) rs772516974 0.00006
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.1364C>T (p.Thr455Met) rs201474903 0.00006
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) rs543345616 0.00006
NM_001365951.3(KIF1B):c.2115+6A>T rs149407490 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 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.4019C>A (p.Ser1340Tyr) rs202229713 0.00006
NM_001365951.3(KIF1B):c.4191G>A (p.Pro1397=) rs374650248 0.00006
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His) rs149417293 0.00006
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=) rs751386973 0.00006
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu) rs760368705 0.00006
NM_001605.3(AARS1):c.1344C>T (p.Ala448=) rs920455151 0.00006
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val) rs376215607 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.940C>T (p.Arg314Trp) rs753667245 0.00006
NM_001605.3(AARS1):c.951C>T (p.Asn317=) rs763632935 0.00006
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr) rs528223570 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00006
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly) rs376308368 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.1709A>G (p.Asn570Ser) rs376925978 0.00006
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 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.1762C>T (p.Pro588Ser) rs777358313 0.00006
NM_030973.4(MED25):c.418C>T (p.Arg140Trp) rs781140315 0.00006
NM_030973.4(MED25):c.802G>A (p.Val268Ile) rs1015978148 0.00006
NM_030973.4(MED25):c.843T>C (p.Ala281=) rs765788595 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 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_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro) rs757846034 0.00005
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_001122955.4(BSCL2):c.866A>G (p.Tyr289Cys) rs760470794 0.00005
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=) rs559783362 0.00005
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=) rs763679404 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.1367G>T (p.Gly456Val) rs879254125 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.1846C>T (p.Arg616Cys) rs372221218 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.37C>T (p.Arg13Ter) rs761931081 0.00005
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg) rs200438841 0.00005
NM_001605.3(AARS1):c.894G>A (p.Leu298=) rs776027503 0.00005
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter) rs988893052 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.1460C>G (p.Thr487Ser) rs142110794 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.1841C>T (p.Pro614Leu) rs201294692 0.00005
NM_030973.4(MED25):c.2146+17G>T rs561588731 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.1803C>T (p.Ser601=) rs267607604 0.00005
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_170707.4(LMNA):c.357-8T>C rs1053291240 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=) rs147902831 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.620C>G (p.Ser207Cys) rs746973203 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_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 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.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365951.3(KIF1B):c.2459T>G (p.Phe820Cys) rs763979844 0.00004
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys) rs763122049 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.2824G>A (p.Asp942Asn) rs370647925 0.00004
NM_001365951.3(KIF1B):c.2986G>A (p.Val996Ile) rs145596547 0.00004
NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=) rs748192983 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 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.3959G>A (p.Arg1320Gln) rs371798689 0.00004
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser) rs754234374 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) rs769092155 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.5324G>A (p.Arg1775His) rs374303355 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.1102C>T (p.Pro368Ser) rs371184292 0.00004
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val) rs761208550 0.00004
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.145-17C>T rs375832841 0.00004
NM_001605.3(AARS1):c.1528C>T (p.Arg510Cys) rs369797061 0.00004
NM_001605.3(AARS1):c.1786-5T>C rs77814513 0.00004
NM_001605.3(AARS1):c.1897C>T (p.Arg633Cys) rs758423103 0.00004
NM_001605.3(AARS1):c.1992+15G>A rs368023282 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.2532G>A (p.Lys844=) rs371712914 0.00004
NM_001605.3(AARS1):c.2548G>A (p.Asp850Asn) rs772849771 0.00004
NM_001605.3(AARS1):c.2552G>A (p.Ser851Asn) rs368011194 0.00004
NM_001605.3(AARS1):c.2681A>G (p.Asn894Ser) rs775024070 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001605.3(AARS1):c.343T>C (p.Cys115Arg) rs773582597 0.00004
NM_001605.3(AARS1):c.592C>T (p.Arg198Trp) rs753033177 0.00004
NM_001605.3(AARS1):c.601G>A (p.Ala201Thr) rs760716722 0.00004
NM_001605.3(AARS1):c.849T>C (p.Val283=) rs773866431 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 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.1219G>A (p.Gly407Ser) rs370650205 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.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu) rs764238525 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.1779C>A (p.Phe593Leu) rs372368483 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.1991T>C (p.Ile664Thr) rs1064797334 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.324+3G>A rs372776194 0.00004
NM_002047.4(GARS1):c.3G>T (p.Met1Ile) rs781520666 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.757G>A (p.Glu253Lys) rs760051768 0.00004
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys) rs780902152 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln) rs377402479 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.1528C>T (p.Arg510Trp) rs146092040 0.00004
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser) rs771043011 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.2070-11C>G rs759614417 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.543G>A (p.Val181=) rs183226846 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_014874.4(MFN2):c.933C>T (p.Asn311=) rs150857365 0.00004
NM_030973.4(MED25):c.1076C>T (p.Thr359Met) rs750201507 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.1873G>A (p.Ala625Thr) rs1038939766 0.00004
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu) rs202187834 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.2209G>A (p.Val737Ile) rs767118345 0.00004
NM_030973.4(MED25):c.232C>G (p.Pro78Ala) rs773539397 0.00004
NM_030973.4(MED25):c.306-9C>T rs1458825800 0.00004
NM_030973.4(MED25):c.309C>A (p.Phe103Leu) rs918394135 0.00004
NM_030973.4(MED25):c.342C>T (p.Ile114=) rs367931150 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_030973.4(MED25):c.689-11C>T rs767365955 0.00004
NM_030973.4(MED25):c.800C>T (p.Pro267Leu) rs757939861 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.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.1196G>A (p.Arg399His) rs267607563 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.1556C>T (p.Thr519Ile) rs753988867 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly) rs141578711 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 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.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
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.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val) rs760613992 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=) rs780533531 0.00003
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val) rs369511412 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.1705A>G (p.Ile569Val) rs374848403 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.2516A>G (p.Tyr839Cys) rs778288202 0.00003
NM_001365951.3(KIF1B):c.2586G>A (p.Met862Ile) rs199818954 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.3043G>A (p.Ala1015Thr) rs200614254 0.00003
NM_001365951.3(KIF1B):c.3045G>A (p.Ala1015=) rs772919031 0.00003
NM_001365951.3(KIF1B):c.3129+11G>T rs201224213 0.00003
NM_001365951.3(KIF1B):c.3151A>G (p.Met1051Val) rs765659089 0.00003
NM_001365951.3(KIF1B):c.3245G>A (p.Arg1082Gln) rs745363423 0.00003
NM_001365951.3(KIF1B):c.3433C>T (p.Arg1145Cys) rs1394199064 0.00003
NM_001365951.3(KIF1B):c.3628A>C (p.Asn1210His) rs779559577 0.00003
NM_001365951.3(KIF1B):c.3688+11G>A rs535695625 0.00003
NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 0.00003
NM_001365951.3(KIF1B):c.429+12C>T rs112261441 0.00003
NM_001365951.3(KIF1B):c.439A>G (p.Met147Val) rs796287290 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.4843A>G (p.Ile1615Val) rs372421679 0.00003
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 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.1244A>G (p.Tyr415Cys) rs373069396 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001605.3(AARS1):c.1347G>A (p.Gln449=) rs200557581 0.00003
NM_001605.3(AARS1):c.1348-9T>C rs201538906 0.00003
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln) rs202036345 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.1789C>T (p.Arg597Ter) rs768830699 0.00003
NM_001605.3(AARS1):c.1847G>A (p.Arg616His) rs781270199 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 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.2218G>C (p.Val740Leu) rs749217453 0.00003
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln) rs1383041194 0.00003
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr) rs377051192 0.00003
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe) rs372602483 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.2752G>A (p.Glu918Lys) rs778342335 0.00003
NM_001605.3(AARS1):c.391G>A (p.Glu131Lys) rs769706358 0.00003
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001605.3(AARS1):c.525C>G (p.Phe175Leu) rs369147317 0.00003
NM_001605.3(AARS1):c.542C>G (p.Thr181Arg) rs202099051 0.00003
NM_001605.3(AARS1):c.713T>C (p.Ile238Thr) rs372680730 0.00003
NM_001605.3(AARS1):c.937G>A (p.Gly313Ser) rs141331431 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.163A>G (p.Met55Val) rs900324585 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.1760C>T (p.Thr587Met) rs750292154 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.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg) rs369224847 0.00003
NM_002047.4(GARS1):c.52C>A (p.Leu18Met) rs368574634 0.00003
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.866G>A (p.Gly289Glu) rs1343637666 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_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 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.1171G>A (p.Glu391Lys) rs756800190 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014874.4(MFN2):c.1392+7C>A rs759251276 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser) rs149122641 0.00003
NM_014874.4(MFN2):c.1873-16A>T rs190961216 0.00003
NM_014874.4(MFN2):c.1976G>A (p.Arg659Lys) rs863224063 0.00003
NM_014874.4(MFN2):c.1988G>T (p.Arg663Leu) rs766735605 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.2166G>C (p.Glu722Asp) rs764268203 0.00003
NM_014874.4(MFN2):c.2182C>A (p.Gln728Lys) rs761544980 0.00003
NM_014874.4(MFN2):c.2215G>A (p.Gly739Ser) rs1402367279 0.00003
NM_014874.4(MFN2):c.33C>T (p.Ile11=) rs756450319 0.00003
NM_014874.4(MFN2):c.765C>G (p.Ile255Met) rs376327713 0.00003
NM_014874.4(MFN2):c.821G>A (p.Arg274Gln) rs768407445 0.00003
NM_014874.4(MFN2):c.822G>A (p.Arg274=) rs528330690 0.00003
NM_014874.4(MFN2):c.970+13A>G rs771746625 0.00003
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser) rs751399299 0.00003
NM_030973.4(MED25):c.1167C>T (p.Leu389=) rs992676211 0.00003
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser) rs752599816 0.00003
NM_030973.4(MED25):c.1508C>T (p.Thr503Met) rs759574296 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.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser) rs745533616 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.764C>G (p.Ala255Gly) rs763825256 0.00003
NM_030973.4(MED25):c.771C>T (p.Leu257=) rs201142674 0.00003
NM_030973.4(MED25):c.904C>T (p.Arg302Cys) rs775122561 0.00003
NM_030973.4(MED25):c.956C>A (p.Pro319His) rs139822988 0.00003
NM_030973.4(MED25):c.96C>T (p.Phe32=) rs138246339 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1317C>A (p.Arg439=) rs374804871 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 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.1517A>C (p.His506Pro) rs878855233 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.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814 0.00003
NM_170707.4(LMNA):c.524C>T (p.Ala175Val) rs369714176 0.00003
NM_170707.4(LMNA):c.731C>T (p.Ala244Val) rs1183097458 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.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg) rs778931376 0.00002
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser) rs377310581 0.00002
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) rs138515091 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 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.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.469A>G (p.Lys157Glu) rs773548699 0.00002
NM_001122955.4(BSCL2):c.610A>G (p.Ile204Val) rs759642646 0.00002
NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala) rs1291966839 0.00002
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=) rs1339749955 0.00002
NM_001122955.4(BSCL2):c.809G>A (p.Arg270His) rs763884653 0.00002
NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys) rs759231362 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 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.1693C>T (p.Arg565Trp) rs758740011 0.00002
NM_001365951.3(KIF1B):c.1782C>T (p.Ile594=) rs774839409 0.00002
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys) rs767848662 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.187G>A (p.Glu63Lys) rs1025709021 0.00002
NM_001365951.3(KIF1B):c.1943C>A (p.Pro648His) rs771169398 0.00002
NM_001365951.3(KIF1B):c.214C>T (p.Arg72Cys) rs953019155 0.00002
NM_001365951.3(KIF1B):c.224A>G (p.Asn75Ser) rs1048688213 0.00002
NM_001365951.3(KIF1B):c.2359-17T>C rs779473426 0.00002
NM_001365951.3(KIF1B):c.2448G>C (p.Glu816Asp) rs146335819 0.00002
NM_001365951.3(KIF1B):c.252C>T (p.His84=) rs757683684 0.00002
NM_001365951.3(KIF1B):c.2558G>A (p.Arg853Gln) rs752039135 0.00002
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys) rs370243199 0.00002
NM_001365951.3(KIF1B):c.2693G>A (p.Gly898Asp) rs766101107 0.00002
NM_001365951.3(KIF1B):c.2744C>T (p.Thr915Met) rs749523745 0.00002
NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=) rs773568203 0.00002
NM_001365951.3(KIF1B):c.3013T>G (p.Phe1005Val) rs142096228 0.00002
NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys) rs751434716 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 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.3925A>G (p.Lys1309Glu) rs772177176 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.3952C>T (p.Arg1318Cys) rs776039242 0.00002
NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His) rs368637007 0.00002
NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys) rs1377919163 0.00002
NM_001365951.3(KIF1B):c.4067G>A (p.Arg1356His) rs140769726 0.00002
NM_001365951.3(KIF1B):c.4304C>T (p.Ser1435Leu) rs776370957 0.00002
NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln) rs367778973 0.00002
NM_001365951.3(KIF1B):c.4512+15_4512+16insT rs757288188 0.00002
NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys) rs774445070 0.00002
NM_001365951.3(KIF1B):c.4590A>T (p.Leu1530Phe) rs751046833 0.00002
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=) rs751084365 0.00002
NM_001365951.3(KIF1B):c.4711A>C (p.Ile1571Leu) rs766977555 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.5039G>A (p.Arg1680Gln) rs775552504 0.00002
NM_001365951.3(KIF1B):c.5053G>A (p.Glu1685Lys) rs764494187 0.00002
NM_001365951.3(KIF1B):c.5097-8G>A rs774748771 0.00002
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His) rs768058092 0.00002
NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His) rs770215708 0.00002
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00002
NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr) rs923434398 0.00002
NM_001365951.3(KIF1B):c.720+8A>G rs751246033 0.00002
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg) rs868622074 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.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1064A>G (p.Gln355Arg) rs1597441035 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.1432C>G (p.Leu478Val) rs767099595 0.00002
NM_001605.3(AARS1):c.145-4T>G rs771322532 0.00002
NM_001605.3(AARS1):c.1529G>A (p.Arg510His) rs202176955 0.00002
NM_001605.3(AARS1):c.1645G>A (p.Val549Met) rs558645844 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.1936A>G (p.Thr646Ala) rs763252550 0.00002
NM_001605.3(AARS1):c.2003C>T (p.Thr668Ile) rs773483658 0.00002
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=) rs754266971 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2178-17T>C rs758490328 0.00002
NM_001605.3(AARS1):c.2287-15G>A rs774569911 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.2446C>T (p.Arg816Trp) rs778478316 0.00002
NM_001605.3(AARS1):c.2460A>T (p.Lys820Asn) rs759906749 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.2596G>A (p.Ala866Thr) rs374478964 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.278A>G (p.Tyr93Cys) rs1251929931 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.80A>G (p.His27Arg) rs77753666 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.-6A>G rs747409671 0.00002
NM_002047.4(GARS1):c.108C>T (p.Leu36=) rs1166263515 0.00002
NM_002047.4(GARS1):c.1108G>C (p.Asp370His) rs769026859 0.00002
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr) rs759499740 0.00002
NM_002047.4(GARS1):c.1138G>A (p.Ala380Thr) rs772145843 0.00002
NM_002047.4(GARS1):c.1140C>G (p.Ala380=) rs374980030 0.00002
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu) rs570608946 0.00002
NM_002047.4(GARS1):c.12G>A (p.Pro4=) rs775650014 0.00002
NM_002047.4(GARS1):c.1359C>T (p.Tyr453=) rs901778260 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.1817G>A (p.Ser606Asn) rs773316961 0.00002
NM_002047.4(GARS1):c.1903+19G>A rs1051143976 0.00002
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser) rs776478280 0.00002
NM_002047.4(GARS1):c.271G>A (p.Val91Ile) rs374616031 0.00002
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr) rs778553007 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.637C>T (p.Arg213Cys) rs769780656 0.00002
NM_002047.4(GARS1):c.786T>C (p.Asn262=) rs886043231 0.00002
NM_014874.4(MFN2):c.1061T>C (p.Val354Ala) rs1057518235 0.00002
NM_014874.4(MFN2):c.1112C>T (p.Ala371Val) rs201675158 0.00002
NM_014874.4(MFN2):c.1180C>T (p.Arg394Cys) rs186448929 0.00002
NM_014874.4(MFN2):c.1238A>C (p.Gln413Pro) rs375335641 0.00002
NM_014874.4(MFN2):c.1257T>G (p.Ile419Met) rs749893944 0.00002
NM_014874.4(MFN2):c.1305C>T (p.Ala435=) rs1374507919 0.00002
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys) rs746852710 0.00002
NM_014874.4(MFN2):c.1480C>A (p.Gln494Lys) rs141775063 0.00002
NM_014874.4(MFN2):c.1522T>A (p.Ser508Thr) rs751397699 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.187A>C (p.Asn63His) rs761216583 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.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.34G>A (p.Val12Ile) rs367715413 0.00002
NM_014874.4(MFN2):c.445G>A (p.Glu149Lys) rs754016178 0.00002
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) rs756851126 0.00002
NM_014874.4(MFN2):c.544A>G (p.Met182Val) rs1338701016 0.00002
NM_014874.4(MFN2):c.610G>A (p.Asp204Asn) rs781651055 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.740G>A (p.Arg247His) rs762189054 0.00002
NM_014874.4(MFN2):c.809T>C (p.Met270Thr) rs771996573 0.00002
NM_014874.4(MFN2):c.823C>T (p.Arg275Trp) rs368499636 0.00002
NM_014874.4(MFN2):c.824G>A (p.Arg275Gln) rs560470663 0.00002
NM_014874.4(MFN2):c.876G>T (p.Val292=) rs758376405 0.00002
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu) rs536678372 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.1314C>G (p.Asn438Lys) rs149030211 0.00002
NM_030973.4(MED25):c.1317-9C>T rs370255278 0.00002
NM_030973.4(MED25):c.131T>G (p.Ile44Ser) rs376462101 0.00002
NM_030973.4(MED25):c.135-14T>C rs765934196 0.00002
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser) rs1198078458 0.00002
NM_030973.4(MED25):c.1691C>T (p.Ala564Val) rs750211605 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.1861C>T (p.Pro621Ser) rs543247926 0.00002
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser) rs764083423 0.00002
NM_030973.4(MED25):c.1900A>G (p.Ile634Val) rs776084741 0.00002
NM_030973.4(MED25):c.1950C>T (p.Leu650=) rs749309483 0.00002
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile) rs768469811 0.00002
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr) rs367802464 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.368A>C (p.Gln123Pro) rs750315392 0.00002
NM_030973.4(MED25):c.405-6T>C rs1053967709 0.00002
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_030973.4(MED25):c.569C>T (p.Ala190Val) rs780526739 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.697G>A (p.Gly233Ser) rs778397363 0.00002
NM_030973.4(MED25):c.747C>T (p.Pro249=) rs111621037 0.00002
NM_030973.4(MED25):c.748G>A (p.Ala250Thr) rs371817340 0.00002
NM_030973.4(MED25):c.769C>G (p.Leu257Val) rs1057519203 0.00002
NM_030973.4(MED25):c.81C>T (p.Asn27=) rs761471079 0.00002
NM_030973.4(MED25):c.846G>T (p.Gln282His) rs762885909 0.00002
NM_030973.4(MED25):c.852C>T (p.Ala284=) rs200117024 0.00002
NM_030973.4(MED25):c.943G>A (p.Gly315Arg) rs1483220422 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.1157+6C>G rs374768416 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.1187A>T (p.Gln396Leu) rs61693978 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.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.142C>G (p.Arg48Gly) rs769977710 0.00002
NM_170707.4(LMNA):c.149G>A (p.Arg50His) rs60695352 0.00002
NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr) rs1215424724 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.1748C>T (p.Ser583Leu) rs59601651 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.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser) rs752598065 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu) rs1222398892 0.00002
NM_170707.4(LMNA):c.504G>C (p.Gln168His) rs747771347 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 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.884C>T (p.Ser295Leu) rs769210828 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.937-9C>T rs1332011298 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) rs779199750 0.00001
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.1016G>A (p.Arg339Gln) rs757850010 0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp) rs767820877 0.00001
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=) rs769021944 0.00001
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) rs749917957 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1096A>G (p.Thr366Ala) rs776379711 0.00001
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=) rs746737457 0.00001
NM_001122955.4(BSCL2):c.1106C>T (p.Ser369Leu) rs771698323 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.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1234+19C>T rs748453195 0.00001
NM_001122955.4(BSCL2):c.1234+6G>A rs762726296 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.1281_1286dup (p.428PA[4]) rs1383028616 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=) rs376418772 0.00001
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) rs1060503382 0.00001
NM_001122955.4(BSCL2):c.1361G>A (p.Arg454Gln) rs143017094 0.00001
NM_001122955.4(BSCL2):c.209C>T (p.Pro70Leu) rs764226928 0.00001
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala) rs2083513120 0.00001
NM_001122955.4(BSCL2):c.249C>T (p.Val83=) rs746722132 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser) rs756668260 0.00001
NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu) rs568354548 0.00001
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=) rs545775232 0.00001
NM_001122955.4(BSCL2):c.344C>T (p.Ser115Phe) rs765023622 0.00001
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=) rs200922424 0.00001
NM_001122955.4(BSCL2):c.389T>C (p.Val130Ala) rs1471285147 0.00001
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 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.425C>T (p.Thr142Ile) rs750176844 0.00001
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=) rs267603078 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=) rs766801709 0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) rs768780378 0.00001
NM_001122955.4(BSCL2):c.486+1G>A rs1011200048 0.00001
NM_001122955.4(BSCL2):c.487-9C>T rs768857448 0.00001
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser) rs878855171 0.00001
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=) rs145393127 0.00001
NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu) rs377609967 0.00001
NM_001122955.4(BSCL2):c.514G>T (p.Val172Phe) rs1945403974 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs) rs1244155207 0.00001
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=) rs571672404 0.00001
NM_001122955.4(BSCL2):c.605G>A (p.Arg202Gln) rs771534001 0.00001
NM_001122955.4(BSCL2):c.631-6C>T rs768294248 0.00001
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg) rs544020840 0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=) rs950978890 0.00001
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) rs755623017 0.00001
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=) rs773290851 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) rs774120735 0.00001
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=) rs754629431 0.00001
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys) rs751664305 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 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.902T>C (p.Ile301Thr) rs776986432 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.940G>A (p.Val314Met) rs916916343 0.00001
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=) rs1350933194 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NM_001365951.3(KIF1B):c.1005T>C (p.Asp335=) rs777030180 0.00001
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu) rs1269940164 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val) rs779530504 0.00001
NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln) rs750790168 0.00001
NM_001365951.3(KIF1B):c.1151G>A (p.Arg384His) rs753524217 0.00001
NM_001365951.3(KIF1B):c.1346G>A (p.Ser449Asn) rs776678008 0.00001
NM_001365951.3(KIF1B):c.1393A>T (p.Met465Leu) rs560710521 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.1696C>T (p.Arg566Cys) rs985819179 0.00001
NM_001365951.3(KIF1B):c.1737G>A (p.Glu579=) rs747880909 0.00001
NM_001365951.3(KIF1B):c.1751G>T (p.Arg584Leu) rs1169892801 0.00001
NM_001365951.3(KIF1B):c.1765A>G (p.Asn589Asp) rs1415991152 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.1855C>T (p.Arg619Cys) rs752648536 0.00001
NM_001365951.3(KIF1B):c.185C>T (p.Pro62Leu) rs1262165101 0.00001
NM_001365951.3(KIF1B):c.1911G>A (p.Pro637=) rs138876135 0.00001
NM_001365951.3(KIF1B):c.1922G>A (p.Arg641Gln) rs1357742021 0.00001
NM_001365951.3(KIF1B):c.1938G>T (p.Lys646Asn) rs1458739115 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.2120A>T (p.Tyr707Phe) rs140536329 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.2254C>T (p.Arg752Trp) rs368066001 0.00001
NM_001365951.3(KIF1B):c.2283A>C (p.Ser761=) rs1349158879 0.00001
NM_001365951.3(KIF1B):c.2304C>T (p.Gly768=) rs1467745413 0.00001
NM_001365951.3(KIF1B):c.2461C>T (p.Pro821Ser) rs1381096991 0.00001
NM_001365951.3(KIF1B):c.2468C>T (p.Thr823Ile) rs901431074 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.253G>T (p.Ala85Ser) rs765957120 0.00001
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly) rs779626536 0.00001
NM_001365951.3(KIF1B):c.2598C>A (p.Ala866=) rs372972101 0.00001
NM_001365951.3(KIF1B):c.2624C>T (p.Thr875Ile) rs757797211 0.00001
NM_001365951.3(KIF1B):c.2635C>G (p.Pro879Ala) rs767998327 0.00001
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) rs755850268 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.2704G>A (p.Glu902Lys) rs368663292 0.00001
NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys) rs1334915559 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.2749G>A (p.Asp917Asn) rs768941996 0.00001
NM_001365951.3(KIF1B):c.2818G>A (p.Val940Met) rs764144206 0.00001
NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=) rs138353787 0.00001
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser) rs748284088 0.00001
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) rs141942131 0.00001
NM_001365951.3(KIF1B):c.287A>G (p.Tyr96Cys) rs774337231 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.2925-3T>C rs958025550 0.00001
NM_001365951.3(KIF1B):c.2958C>T (p.Pro986=) rs369616673 0.00001
NM_001365951.3(KIF1B):c.2959G>A (p.Val987Met) rs768340319 0.00001
NM_001365951.3(KIF1B):c.3039C>T (p.Ile1013=) rs781205034 0.00001
NM_001365951.3(KIF1B):c.3043+4G>A rs1331772399 0.00001
NM_001365951.3(KIF1B):c.3130-20T>C rs570479803 0.00001
NM_001365951.3(KIF1B):c.3134A>G (p.Asp1045Gly) rs775328436 0.00001
NM_001365951.3(KIF1B):c.3156T>C (p.Thr1052=) rs758814481 0.00001
NM_001365951.3(KIF1B):c.3220A>G (p.Ile1074Val) rs1171524410 0.00001
NM_001365951.3(KIF1B):c.3262T>G (p.Leu1088Val) rs1001609597 0.00001
NM_001365951.3(KIF1B):c.3271A>G (p.Ser1091Gly) rs753279755 0.00001
NM_001365951.3(KIF1B):c.3280C>T (p.Leu1094=) rs1035683321 0.00001
NM_001365951.3(KIF1B):c.3349T>G (p.Phe1117Val) rs180870886 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.3565A>G (p.Ile1189Val) rs190481457 0.00001
NM_001365951.3(KIF1B):c.3582T>C (p.Phe1194=) rs1459410102 0.00001
NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val) rs1320246121 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.3649C>T (p.Arg1217Cys) rs763460099 0.00001
NM_001365951.3(KIF1B):c.3688+5G>A rs373470177 0.00001
NM_001365951.3(KIF1B):c.3711G>A (p.Thr1237=) rs766041029 0.00001
NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile) rs745380720 0.00001
NM_001365951.3(KIF1B):c.3743G>A (p.Ser1248Asn) rs1183079670 0.00001
NM_001365951.3(KIF1B):c.3754C>T (p.Leu1252Phe) rs369250279 0.00001
NM_001365951.3(KIF1B):c.3772A>G (p.Ile1258Val) rs746270104 0.00001
NM_001365951.3(KIF1B):c.3798-9A>G rs1173696086 0.00001
NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val) rs747752091 0.00001
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=) rs746980680 0.00001
NM_001365951.3(KIF1B):c.391A>G (p.Asn131Asp) rs770849620 0.00001
NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser) rs776533873 0.00001
NM_001365951.3(KIF1B):c.3935G>A (p.Arg1312His) rs766432835 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.4078G>A (p.Val1360Met) rs1553170068 0.00001
NM_001365951.3(KIF1B):c.4095G>A (p.Leu1365=) rs770027202 0.00001
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe) rs760253167 0.00001
NM_001365951.3(KIF1B):c.4157C>T (p.Ser1386Leu) rs1481645640 0.00001
NM_001365951.3(KIF1B):c.4195G>A (p.Val1399Ile) rs770566165 0.00001
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) rs567728453 0.00001
NM_001365951.3(KIF1B):c.429+8C>T rs756538021 0.00001
NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr) rs757899517 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.4444C>T (p.Arg1482Trp) rs1461624745 0.00001
NM_001365951.3(KIF1B):c.4450C>T (p.Arg1484Cys) rs1638533355 0.00001
NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val) rs1051917954 0.00001
NM_001365951.3(KIF1B):c.4512+8G>A rs1203024685 0.00001
NM_001365951.3(KIF1B):c.4522A>G (p.Thr1508Ala) rs78662124 0.00001
NM_001365951.3(KIF1B):c.4538T>C (p.Leu1513Pro) rs745654802 0.00001
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His) rs375130478 0.00001
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn) rs121908164 0.00001
NM_001365951.3(KIF1B):c.4582G>T (p.Asp1528Tyr) rs1242181470 0.00001
NM_001365951.3(KIF1B):c.4600C>T (p.Leu1534Phe) rs200971835 0.00001
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg) rs1011009249 0.00001
NM_001365951.3(KIF1B):c.4633A>G (p.Ile1545Val) rs148387809 0.00001
NM_001365951.3(KIF1B):c.4642C>G (p.Gln1548Glu) rs1331941619 0.00001
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr) rs200255510 0.00001
NM_001365951.3(KIF1B):c.4684G>A (p.Glu1562Lys) rs761322006 0.00001
NM_001365951.3(KIF1B):c.4697A>G (p.Tyr1566Cys) rs1460523196 0.00001
NM_001365951.3(KIF1B):c.4776T>A (p.Thr1592=) rs757529397 0.00001
NM_001365951.3(KIF1B):c.47A>G (p.Asn16Ser) rs1409278786 0.00001
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) rs376471111 0.00001
NM_001365951.3(KIF1B):c.4850G>A (p.Arg1617Gln) rs775481158 0.00001
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) rs758454220 0.00001
NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val) rs758879647 0.00001
NM_001365951.3(KIF1B):c.5003A>G (p.Gln1668Arg) rs1638828437 0.00001
NM_001365951.3(KIF1B):c.5008G>A (p.Val1670Ile) rs745444286 0.00001
NM_001365951.3(KIF1B):c.5014G>C (p.Ala1672Pro) rs909290817 0.00001
NM_001365951.3(KIF1B):c.5036C>G (p.Ala1679Gly) rs776751303 0.00001
NM_001365951.3(KIF1B):c.5097-11G>T rs765592840 0.00001
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys) rs754479325 0.00001
NM_001365951.3(KIF1B):c.5177G>A (p.Arg1726His) rs778439251 0.00001
NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu) rs774464311 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.5291C>T (p.Thr1764Ile) rs777106047 0.00001
NM_001365951.3(KIF1B):c.531T>C (p.Tyr177=) rs769619599 0.00001
NM_001365951.3(KIF1B):c.5329G>T (p.Val1777Phe) rs781002245 0.00001
NM_001365951.3(KIF1B):c.5348A>G (p.Asn1783Ser) rs549813751 0.00001
NM_001365951.3(KIF1B):c.5369G>C (p.Trp1790Ser) rs367884252 0.00001
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met) rs150737970 0.00001
NM_001365951.3(KIF1B):c.5407C>T (p.Arg1803Trp) rs759957126 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.5422C>T (p.Arg1808Cys) rs1060501912 0.00001
NM_001365951.3(KIF1B):c.549G>C (p.Lys183Asn) rs1308362049 0.00001
NM_001365951.3(KIF1B):c.564C>T (p.Ser188=) rs774503326 0.00001
NM_001365951.3(KIF1B):c.574A>G (p.Ile192Val) rs1332621585 0.00001
NM_001365951.3(KIF1B):c.5C>T (p.Ser2Leu) rs1272900057 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.61A>G (p.Ser21Gly) rs769237267 0.00001
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202 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.791G>A (p.Arg264Gln) rs376807805 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.1003G>A (p.Ala335Thr) rs765846298 0.00001
NM_001605.3(AARS1):c.1007A>G (p.His336Arg) rs1025002934 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.1067C>T (p.Ser356Phe) rs771898925 0.00001
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val) rs370368784 0.00001
NM_001605.3(AARS1):c.1075G>A (p.Asp359Asn) rs1130535 0.00001
NM_001605.3(AARS1):c.1079C>G (p.Ala360Gly) rs561829699 0.00001
NM_001605.3(AARS1):c.1093A>G (p.Lys365Glu) rs774143119 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1168C>T (p.Arg390Cys) rs759713590 0.00001
NM_001605.3(AARS1):c.1220C>A (p.Pro407His) rs770557635 0.00001
NM_001605.3(AARS1):c.1230T>C (p.Thr410=) rs748544878 0.00001
NM_001605.3(AARS1):c.1261C>G (p.Pro421Ala) rs1157450521 0.00001
NM_001605.3(AARS1):c.1284T>A (p.Ile428=) rs1210163050 0.00001
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr) rs1446399906 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.1334G>T (p.Arg445Met) rs776515117 0.00001
NM_001605.3(AARS1):c.1347+10T>C rs1424574012 0.00001
NM_001605.3(AARS1):c.1347+14A>T rs915904032 0.00001
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359 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.1426C>T (p.Arg476Trp) rs780059987 0.00001
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys) rs146082956 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.1504A>G (p.Thr502Ala) rs758003106 0.00001
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met) rs755492122 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.1537A>C (p.Lys513Gln) rs1960156160 0.00001
NM_001605.3(AARS1):c.1554G>A (p.Glu518=) rs746835558 0.00001
NM_001605.3(AARS1):c.155T>C (p.Ile52Thr) rs200582917 0.00001
NM_001605.3(AARS1):c.1561A>G (p.Thr521Ala) rs369465026 0.00001
NM_001605.3(AARS1):c.1578A>G (p.Gly526=) rs376138540 0.00001
NM_001605.3(AARS1):c.1588G>A (p.Asp530Asn) rs1479302877 0.00001
NM_001605.3(AARS1):c.1604A>G (p.Tyr535Cys) rs756650948 0.00001
NM_001605.3(AARS1):c.1624A>T (p.Ile542Phe) rs572187967 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.1650G>A (p.Lys550=) rs770856423 0.00001
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 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.169A>G (p.Ile57Val) rs372131127 0.00001
NM_001605.3(AARS1):c.170T>C (p.Ile57Thr) rs567262501 0.00001
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu) rs755027471 0.00001
NM_001605.3(AARS1):c.1727T>C (p.Ile576Thr) rs753863962 0.00001
NM_001605.3(AARS1):c.1764G>C (p.Gln588His) rs771478786 0.00001
NM_001605.3(AARS1):c.176C>T (p.Pro59Leu) rs1337985053 0.00001
NM_001605.3(AARS1):c.1785+16G>C rs375451856 0.00001
NM_001605.3(AARS1):c.1790G>A (p.Arg597Gln) rs777597230 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser) rs780198710 0.00001
NM_001605.3(AARS1):c.1882T>C (p.Leu628=) rs200896501 0.00001
NM_001605.3(AARS1):c.1894G>C (p.Asp632His) rs765977339 0.00001
NM_001605.3(AARS1):c.1907T>G (p.Phe636Cys) rs766999932 0.00001
NM_001605.3(AARS1):c.1943A>G (p.Gln648Arg) rs746047868 0.00001
NM_001605.3(AARS1):c.1949A>G (p.Lys650Arg) rs142233951 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.1997T>C (p.Val666Ala) rs145056270 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.2027C>T (p.Ala676Val) rs371114066 0.00001
NM_001605.3(AARS1):c.2047C>T (p.Arg683Trp) rs866956348 0.00001
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln) rs371048516 0.00001
NM_001605.3(AARS1):c.2079T>C (p.Pro693=) rs766834986 0.00001
NM_001605.3(AARS1):c.2083C>T (p.Arg695Ter) rs761043713 0.00001
NM_001605.3(AARS1):c.2084G>A (p.Arg695Gln) rs377378009 0.00001
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe) rs1427798398 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.2118G>C (p.Leu706Phe) rs201097032 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.2137C>T (p.Pro713Ser) rs750769245 0.00001
NM_001605.3(AARS1):c.2154T>G (p.Thr718=) rs1410315443 0.00001
NM_001605.3(AARS1):c.2177+1G>A rs766251338 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.2267C>T (p.Thr756Ile) rs769394060 0.00001
NM_001605.3(AARS1):c.226A>G (p.Ile76Val) rs1274784611 0.00001
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg) rs1224948634 0.00001
NM_001605.3(AARS1):c.2287-13T>G rs553083906 0.00001
NM_001605.3(AARS1):c.2288C>T (p.Ala763Val) rs777776042 0.00001
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu) rs373664027 0.00001
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr) rs767954906 0.00001
NM_001605.3(AARS1):c.2385C>T (p.Ile795=) rs1283711323 0.00001
NM_001605.3(AARS1):c.2395G>A (p.Gly799Arg) rs1161734697 0.00001
NM_001605.3(AARS1):c.2396G>T (p.Gly799Val) rs1959931902 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.2440G>A (p.Glu814Lys) rs533029846 0.00001
NM_001605.3(AARS1):c.2453C>T (p.Thr818Ile) rs753158346 0.00001
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile) rs1385044712 0.00001
NM_001605.3(AARS1):c.2491C>T (p.Arg831Ter) rs1959913185 0.00001
NM_001605.3(AARS1):c.2518C>T (p.Arg840Ter) rs1173826571 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.2562C>G (p.Asn854Lys) rs1260237711 0.00001
NM_001605.3(AARS1):c.2569C>G (p.Leu857Val) rs780261077 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 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.2628G>C (p.Lys876Asn) rs758488318 0.00001
NM_001605.3(AARS1):c.2629C>G (p.Leu877Val) rs1959893208 0.00001
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe) rs751242154 0.00001
NM_001605.3(AARS1):c.267C>T (p.Gly89=) rs1960568594 0.00001
NM_001605.3(AARS1):c.2686G>A (p.Ala896Thr) rs1295851671 0.00001
NM_001605.3(AARS1):c.2721+3C>G rs1318032456 0.00001
NM_001605.3(AARS1):c.2735G>A (p.Arg912Gln) rs777686119 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.2835T>C (p.Val945=) rs1192286853 0.00001
NM_001605.3(AARS1):c.2845C>G (p.Gln949Glu) rs375263515 0.00001
NM_001605.3(AARS1):c.284A>C (p.His95Pro) rs764793550 0.00001
NM_001605.3(AARS1):c.288C>T (p.Thr96=) rs1373682530 0.00001
NM_001605.3(AARS1):c.295G>A (p.Glu99Lys) rs777170136 0.00001
NM_001605.3(AARS1):c.310T>C (p.Trp104Arg) rs1057520616 0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) rs1398433261 0.00001
NM_001605.3(AARS1):c.417C>T (p.Gly139=) rs758260278 0.00001
NM_001605.3(AARS1):c.479+5G>T rs1487772006 0.00001
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro) rs1960417011 0.00001
NM_001605.3(AARS1):c.498C>T (p.Ile166=) rs999924082 0.00001
NM_001605.3(AARS1):c.506G>A (p.Gly169Asp) rs1362856733 0.00001
NM_001605.3(AARS1):c.510C>A (p.Asn170Lys) rs775904247 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.56A>G (p.Lys19Arg) rs776616726 0.00001
NM_001605.3(AARS1):c.576C>T (p.Tyr192=) rs930696946 0.00001
NM_001605.3(AARS1):c.577G>A (p.Asp193Asn) rs376700046 0.00001
NM_001605.3(AARS1):c.580C>T (p.Arg194Trp) rs764675357 0.00001
NM_001605.3(AARS1):c.581G>A (p.Arg194Gln) rs1033300766 0.00001
NM_001605.3(AARS1):c.5A>G (p.Asp2Gly) rs1485992879 0.00001
NM_001605.3(AARS1):c.620A>G (p.Asp207Gly) rs1960410669 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.663G>C (p.Gln221His) rs1028028699 0.00001
NM_001605.3(AARS1):c.704A>G (p.Lys235Arg) rs755350912 0.00001
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro) rs768158204 0.00001
NM_001605.3(AARS1):c.71C>T (p.Thr24Met) rs1227942516 0.00001
NM_001605.3(AARS1):c.720_721del (p.Gly241fs) rs977976041 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 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.760A>C (p.Lys254Gln) rs770790585 0.00001
NM_001605.3(AARS1):c.783C>G (p.Asp261Glu) rs1374950172 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.829C>T (p.Arg277Ter) rs200032881 0.00001
NM_001605.3(AARS1):c.835T>C (p.Tyr279His) rs1232484436 0.00001
NM_001605.3(AARS1):c.837C>T (p.Tyr279=) rs201865481 0.00001
NM_001605.3(AARS1):c.848T>C (p.Val283Ala) rs761545263 0.00001
NM_001605.3(AARS1):c.864C>T (p.Ala288=) rs765247500 0.00001
NM_001605.3(AARS1):c.886C>T (p.Arg296Trp) rs1225401608 0.00001
NM_001605.3(AARS1):c.889G>C (p.Val297Leu) rs1329713999 0.00001
NM_001605.3(AARS1):c.8C>G (p.Ser3Cys) rs946227383 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp) rs1302363015 0.00001
NM_001605.3(AARS1):c.919G>A (p.Val307Met) rs1316227824 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.935G>A (p.Gly312Asp) rs777824151 0.00001
NM_001605.3(AARS1):c.952A>G (p.Thr318Ala) rs868291701 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.963A>G (p.Gly321=) rs775592737 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln) rs778511459 0.00001
NM_001605.3(AARS1):c.9T>G (p.Ser3=) rs539360231 0.00001
NM_002047.4(GARS1):c.1000A>G (p.Ile334Val) rs1554338260 0.00001
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln) rs1189675611 0.00001
NM_002047.4(GARS1):c.1031+9del rs746178135 0.00001
NM_002047.4(GARS1):c.1042A>G (p.Met348Val) rs368832379 0.00001
NM_002047.4(GARS1):c.1059C>T (p.His353=) rs886062273 0.00001
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala) rs267601479 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.1234C>T (p.Arg412Cys) rs770924455 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.1254G>A (p.Thr418=) rs552538763 0.00001
NM_002047.4(GARS1):c.125C>T (p.Pro42Leu) rs1316245045 0.00001
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe) rs774169230 0.00001
NM_002047.4(GARS1):c.1359+1G>A rs868796615 0.00001
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn) rs368388267 0.00001
NM_002047.4(GARS1):c.1432G>A (p.Val478Ile) rs1238026762 0.00001
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu) rs1159290036 0.00001
NM_002047.4(GARS1):c.1487A>G (p.Gln496Arg) rs1325522512 0.00001
NM_002047.4(GARS1):c.1511T>C (p.Ile504Thr) rs762264480 0.00001
NM_002047.4(GARS1):c.1573T>C (p.Cys525Arg) rs752812365 0.00001
NM_002047.4(GARS1):c.1612G>C (p.Gly538Arg) rs1415135637 0.00001
NM_002047.4(GARS1):c.1613+7T>C rs374795892 0.00001
NM_002047.4(GARS1):c.1624A>G (p.Ile542Val) rs1060502837 0.00001
NM_002047.4(GARS1):c.162C>T (p.Ser54=) rs758434035 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.1700-17T>C rs775676664 0.00001
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr) rs754547488 0.00001
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn) rs864622616 0.00001
NM_002047.4(GARS1):c.1755G>A (p.Met585Ile) rs780441296 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.1829T>C (p.Val610Ala) rs1554340666 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.1859C>T (p.Pro620Leu) rs892958904 0.00001
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp) rs1554336540 0.00001
NM_002047.4(GARS1):c.1904-3T>A rs775575408 0.00001
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809 0.00001
NM_002047.4(GARS1):c.1960A>G (p.Ile654Val) rs1406586832 0.00001
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys) rs781585447 0.00001
NM_002047.4(GARS1):c.1996G>A (p.Val666Met) rs544634101 0.00001
NM_002047.4(GARS1):c.2008G>C (p.Val670Leu) rs376585160 0.00001
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346 0.00001
NM_002047.4(GARS1):c.2044C>A (p.His682Asn) rs1437642803 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.208G>C (p.Ala70Pro) rs1008199275 0.00001
NM_002047.4(GARS1):c.2108C>T (p.Pro703Leu) rs1002052289 0.00001
NM_002047.4(GARS1):c.2123A>T (p.Asp708Val) rs776108138 0.00001
NM_002047.4(GARS1):c.2156T>C (p.Val719Ala) rs750501453 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.2177T>C (p.Phe726Ser) rs1397264514 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.227A>G (p.Asp76Gly) rs780858299 0.00001
NM_002047.4(GARS1):c.234G>A (p.Val78=) rs376199921 0.00001
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu) rs1389930859 0.00001
NM_002047.4(GARS1):c.300C>G (p.Ala100=) rs781432743 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_002047.4(GARS1):c.352A>G (p.Ile118Val) rs200025018 0.00001
NM_002047.4(GARS1):c.362G>A (p.Arg121Gln) rs1363263798 0.00001
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys) rs1467460367 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys) rs898879117 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.436G>A (p.Gly146Ser) rs1309618721 0.00001
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe) rs367915362 0.00001
NM_002047.4(GARS1):c.478A>G (p.Asn160Asp) rs372198757 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.662A>G (p.His221Arg) rs1279978899 0.00001
NM_002047.4(GARS1):c.668A>G (p.Gln223Arg) rs750901652 0.00001
NM_002047.4(GARS1):c.671A>T (p.Lys224Ile) rs756641901 0.00001
NM_002047.4(GARS1):c.723T>C (p.Ser241=) rs767839744 0.00001
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys) rs756629704 0.00001
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg) rs200437855 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.843G>A (p.Met281Ile) rs545669679 0.00001
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu) rs786204099 0.00001
NM_002047.4(GARS1):c.881+20T>C rs781026645 0.00001
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala) rs774283805 0.00001
NM_014874.4(MFN2):c.1039-20C>T rs1253046105 0.00001
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg) rs143747551 0.00001
NM_014874.4(MFN2):c.1086G>A (p.Thr362=) rs749652300 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1145C>T (p.Ala382Val) rs201165591 0.00001
NM_014874.4(MFN2):c.1161-7C>T rs1414918598 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 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.1189C>T (p.Arg397Trp) rs758948968 0.00001
NM_014874.4(MFN2):c.1190G>A (p.Arg397Gln) rs778219078 0.00001
NM_014874.4(MFN2):c.1191G>A (p.Arg397=) rs758952131 0.00001
NM_014874.4(MFN2):c.1202T>G (p.Leu401Arg) rs1161492440 0.00001
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys) rs769905428 0.00001
NM_014874.4(MFN2):c.120T>C (p.Asn40=) rs756467977 0.00001
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.1267A>G (p.Thr423Ala) rs765921889 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_014874.4(MFN2):c.1293G>T (p.Ser431=) rs751915674 0.00001
NM_014874.4(MFN2):c.1304C>G (p.Ala435Gly) rs1030984908 0.00001
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys) rs756110507 0.00001
NM_014874.4(MFN2):c.1338C>T (p.Asp446=) rs376300393 0.00001
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu) rs78658090 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.1424G>A (p.Gly475Asp) rs774967287 0.00001
NM_014874.4(MFN2):c.1432A>G (p.Met478Val) rs953946892 0.00001
NM_014874.4(MFN2):c.1441C>T (p.Arg481Cys) rs762264240 0.00001
NM_014874.4(MFN2):c.1442G>A (p.Arg481His) rs767718891 0.00001
NM_014874.4(MFN2):c.1453G>A (p.Ala485Thr) rs1320374657 0.00001
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val) rs755657087 0.00001
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750 0.00001
NM_014874.4(MFN2):c.1564T>C (p.Phe522Leu) rs747397065 0.00001
NM_014874.4(MFN2):c.1605T>C (p.Ala535=) rs575884069 0.00001
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser) rs776423551 0.00001
NM_014874.4(MFN2):c.1675C>T (p.Pro559Ser) rs1369308807 0.00001
NM_014874.4(MFN2):c.1679A>G (p.Lys560Arg) rs754458177 0.00001
NM_014874.4(MFN2):c.1687C>T (p.Arg563Cys) rs747733583 0.00001
NM_014874.4(MFN2):c.1688G>A (p.Arg563His) rs771845093 0.00001
NM_014874.4(MFN2):c.1691G>A (p.Arg564Gln) rs746213217 0.00001
NM_014874.4(MFN2):c.1701G>A (p.Met567Ile) rs776026191 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.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 0.00001
NM_014874.4(MFN2):c.175+12C>A rs186824858 0.00001
NM_014874.4(MFN2):c.1750C>A (p.Pro584Thr) rs773308500 0.00001
NM_014874.4(MFN2):c.175G>T (p.Asp59Tyr) rs1311434220 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.1778C>T (p.Ser593Leu) rs759372833 0.00001
NM_014874.4(MFN2):c.1782C>T (p.Leu594=) rs950932066 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047 0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) rs1639431440 0.00001
NM_014874.4(MFN2):c.1824C>T (p.Ala608=) rs774988978 0.00001
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile) rs200936779 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.1909T>A (p.Ser637Thr) rs763185826 0.00001
NM_014874.4(MFN2):c.190G>A (p.Ala64Thr) rs922058129 0.00001
NM_014874.4(MFN2):c.1922A>G (p.Tyr641Cys) rs866276988 0.00001
NM_014874.4(MFN2):c.1946G>A (p.Arg649His) rs763492075 0.00001
NM_014874.4(MFN2):c.1951A>G (p.Thr651Ala) rs772756022 0.00001
NM_014874.4(MFN2):c.1971G>A (p.Lys657=) rs764308150 0.00001
NM_014874.4(MFN2):c.1978G>A (p.Ala660Thr) rs762292163 0.00001
NM_014874.4(MFN2):c.1979C>A (p.Ala660Asp) rs377090439 0.00001
NM_014874.4(MFN2):c.1981T>C (p.Phe661Leu) rs1204925465 0.00001
NM_014874.4(MFN2):c.1986G>A (p.Lys662=) rs1260208756 0.00001
NM_014874.4(MFN2):c.1995T>G (p.Phe665Leu) rs755219120 0.00001
NM_014874.4(MFN2):c.2016G>A (p.Lys672=) rs187058104 0.00001
NM_014874.4(MFN2):c.2020C>A (p.Gln674Lys) rs770361817 0.00001
NM_014874.4(MFN2):c.2021A>C (p.Gln674Pro) rs1410698026 0.00001
NM_014874.4(MFN2):c.2048A>G (p.Asn683Ser) rs762213417 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2060A>G (p.Gln687Arg) rs879253910 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.2147C>T (p.Ala716Val) rs771589792 0.00001
NM_014874.4(MFN2):c.2158A>G (p.Lys720Glu) rs1450205264 0.00001
NM_014874.4(MFN2):c.2160A>G (p.Lys720=) rs769855660 0.00001
NM_014874.4(MFN2):c.2162T>C (p.Ile721Thr) rs150946795 0.00001
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly) rs1274191966 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.2221T>G (p.Leu741Val) rs1060501917 0.00001
NM_014874.4(MFN2):c.2253G>A (p.Gln751=) rs948203067 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.227T>G (p.Leu76Arg) rs28940293 0.00001
NM_014874.4(MFN2):c.232G>A (p.Val78Ile) rs764695837 0.00001
NM_014874.4(MFN2):c.236A>G (p.Lys79Arg) rs1262941514 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.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr) rs777625403 0.00001
NM_014874.4(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013 0.00001
NM_014874.4(MFN2):c.404G>A (p.Arg135Gln) rs1443036026 0.00001
NM_014874.4(MFN2):c.415A>G (p.Thr139Ala) rs1349977366 0.00001
NM_014874.4(MFN2):c.46A>C (p.Lys16Gln) rs748233037 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.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.558T>C (p.Ser186=) rs1280915201 0.00001
NM_014874.4(MFN2):c.558dup (p.Lys187Ter) rs772732232 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.608T>C (p.Ile203Thr) rs200715905 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014874.4(MFN2):c.709-9T>C rs776259256 0.00001
NM_014874.4(MFN2):c.725A>G (p.His242Arg) rs863224065 0.00001
NM_014874.4(MFN2):c.739C>T (p.Arg247Cys) rs369948853 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014874.4(MFN2):c.776G>A (p.Arg259His) rs755065651 0.00001
NM_014874.4(MFN2):c.78A>G (p.Ala26=) rs764662159 0.00001
NM_014874.4(MFN2):c.801C>T (p.Pro267=) rs201550384 0.00001
NM_014874.4(MFN2):c.816+4C>T rs374018931 0.00001
NM_014874.4(MFN2):c.817-7G>A rs769298272 0.00001
NM_014874.4(MFN2):c.820C>T (p.Arg274Trp) rs762440627 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.899G>A (p.Arg300His) rs1226075443 0.00001
NM_014874.4(MFN2):c.932A>G (p.Asn311Ser) rs748838916 0.00001
NM_014874.4(MFN2):c.945G>A (p.Gln315=) rs1569852176 0.00001
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) rs1424551887 0.00001
NM_014874.4(MFN2):c.963T>G (p.Pro321=) rs1464024708 0.00001
NM_014874.4(MFN2):c.977C>T (p.Ala326Val) rs778350613 0.00001
NM_014874.4(MFN2):c.982G>A (p.Ala328Thr) rs771900151 0.00001
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr) rs1018204701 0.00001
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser) rs780177056 0.00001
NM_030973.4(MED25):c.1039G>C (p.Val347Leu) rs146715554 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.1101+1G>A rs769486726 0.00001
NM_030973.4(MED25):c.1102-9C>T rs747438443 0.00001
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu) rs769174134 0.00001
NM_030973.4(MED25):c.1103C>T (p.Ala368Val) rs769174134 0.00001
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala) rs201553319 0.00001
NM_030973.4(MED25):c.112C>A (p.His38Asn) rs1191519479 0.00001
NM_030973.4(MED25):c.1143A>G (p.Pro381=) rs200571306 0.00001
NM_030973.4(MED25):c.1157C>T (p.Ala386Val) rs1427321438 0.00001
NM_030973.4(MED25):c.1170T>A (p.Gly390=) rs755612050 0.00001
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter) rs749356375 0.00001
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser) rs756897347 0.00001
NM_030973.4(MED25):c.1209C>T (p.Ser403=) rs954895925 0.00001
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg) rs1213960931 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.1271C>T (p.Thr424Met) rs2074060664 0.00001
NM_030973.4(MED25):c.1308C>T (p.Gly436=) rs750031901 0.00001
NM_030973.4(MED25):c.1317-3C>T rs367774572 0.00001
NM_030973.4(MED25):c.1322C>T (p.Thr441Met) rs754342751 0.00001
NM_030973.4(MED25):c.135-3C>T rs750459702 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.1366C>T (p.Gln456Ter) rs758524310 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.1395C>A (p.Phe465Leu) rs143046644 0.00001
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp) rs759187460 0.00001
NM_030973.4(MED25):c.1437C>T (p.Asp479=) rs1484444238 0.00001
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly) rs2074064696 0.00001
NM_030973.4(MED25):c.1455C>T (p.Gly485=) rs765634152 0.00001
NM_030973.4(MED25):c.145G>T (p.Gly49Cys) rs780112917 0.00001
NM_030973.4(MED25):c.1476C>T (p.Asn492=) rs750836603 0.00001
NM_030973.4(MED25):c.1511C>T (p.Ala504Val) rs1479368676 0.00001
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys) rs1418129935 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.1678G>C (p.Gly560Arg) rs866498468 0.00001
NM_030973.4(MED25):c.16G>C (p.Glu6Gln) rs755457665 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.1757G>A (p.Arg586His) rs1184393042 0.00001
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) rs763039409 0.00001
NM_030973.4(MED25):c.1824A>G (p.Gln608=) rs756851712 0.00001
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr) rs900142190 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.2023G>A (p.Ala675Thr) rs1448159136 0.00001
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu) rs974538844 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.2116G>A (p.Ala706Thr) rs762953015 0.00001
NM_030973.4(MED25):c.213C>T (p.Phe71=) rs745454610 0.00001
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp) rs2074102870 0.00001
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) rs765135124 0.00001
NM_030973.4(MED25):c.2226C>T (p.Ile742=) rs921978271 0.00001
NM_030973.4(MED25):c.235G>A (p.Glu79Lys) rs1359745073 0.00001
NM_030973.4(MED25):c.23C>T (p.Pro8Leu) rs980805046 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.292C>T (p.Leu98Phe) rs753652217 0.00001
NM_030973.4(MED25):c.295G>A (p.Asp99Asn) rs778775959 0.00001
NM_030973.4(MED25):c.29G>T (p.Arg10Leu) rs545524810 0.00001
NM_030973.4(MED25):c.316G>A (p.Gly106Arg) rs147136530 0.00001
NM_030973.4(MED25):c.339C>T (p.Leu113=) rs772212895 0.00001
NM_030973.4(MED25):c.344C>T (p.Ala115Val) rs764375282 0.00001
NM_030973.4(MED25):c.384C>T (p.Phe128=) rs1204577575 0.00001
NM_030973.4(MED25):c.407G>A (p.Gly136Asp) rs1391030807 0.00001
NM_030973.4(MED25):c.413C>T (p.Thr138Met) rs200785685 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.502A>T (p.Asn168Tyr) rs1189793403 0.00001
NM_030973.4(MED25):c.508G>A (p.Val170Met) rs561534872 0.00001
NM_030973.4(MED25):c.525+6G>A rs1012023208 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.556C>T (p.Arg186Trp) rs776291104 0.00001
NM_030973.4(MED25):c.574C>T (p.Arg192Trp) rs201157765 0.00001
NM_030973.4(MED25):c.617C>T (p.Pro206Leu) rs368059409 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.751G>A (p.Ala251Thr) rs775622130 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.911C>T (p.Ser304Leu) rs546822136 0.00001
NM_030973.4(MED25):c.912G>A (p.Ser304=) rs1407395842 0.00001
NM_030973.4(MED25):c.931C>G (p.Gln311Glu) rs2074049438 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.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1011G>C (p.Leu337=) rs753179748 0.00001
NM_170707.4(LMNA):c.1016C>A (p.Ala339Glu) rs756538414 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 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.1129C>T (p.Arg377Cys) rs397517889 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.1163G>A (p.Arg388His) rs267607576 0.00001
NM_170707.4(LMNA):c.1171C>G (p.Pro391Ala) rs1436409162 0.00001
NM_170707.4(LMNA):c.1182C>T (p.Thr394=) rs1409406468 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1186C>A (p.Gln396Lys) rs1651605822 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) rs267607620 0.00001
NM_170707.4(LMNA):c.1200C>T (p.Gly400=) rs770727928 0.00001
NM_170707.4(LMNA):c.1210T>A (p.Ser404Thr) rs1466205936 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg) rs966050612 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala) rs1166140426 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.1284C>G (p.Ser428Arg) rs368831495 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys) rs62636506 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 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.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1389C>T (p.Ser463=) rs1433379020 0.00001
NM_170707.4(LMNA):c.1397A>G (p.Asn466Ser) rs1159123077 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.147G>A (p.Val49=) rs376196924 0.00001
NM_170707.4(LMNA):c.1480G>T (p.Val494Leu) rs760277884 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1488+15G>A rs371380638 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 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.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1590C>T (p.Leu530=) rs747338820 0.00001
NM_170707.4(LMNA):c.1592T>A (p.Ile531Asn) rs1464388906 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu) rs747717293 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.1608A>G (p.Glu536=) rs1651737692 0.00001
NM_170707.4(LMNA):c.1609-12T>C rs267607582 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1641G>T (p.Val547=) rs947366975 0.00001
NM_170707.4(LMNA):c.1645G>A (p.Val549Met) rs781774834 0.00001
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys) rs71630616 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.1698+1G>A rs1553266337 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.1729G>A (p.Ala577Thr) rs1439261714 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1764C>T (p.Cys588=) rs759016336 0.00001
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg) rs372201662 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 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.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.1814C>T (p.Ala605Val) rs1651866275 0.00001
NM_170707.4(LMNA):c.1822G>T (p.Gly608Cys) rs61064130 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.1863G>A (p.Thr621=) rs749999967 0.00001
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala) rs757888891 0.00001
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1890G>A (p.Gly630=) rs770389147 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.1892G>A (p.Gly631Asp) rs267607648 0.00001
NM_170707.4(LMNA):c.191C>A (p.Thr64Asn) rs753191587 0.00001
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) rs768986279 0.00001
NM_170707.4(LMNA):c.1969-4T>C rs751715969 0.00001
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln) rs751916168 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 0.00001
NM_170707.4(LMNA):c.240C>T (p.Ala80=) rs780194620 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser) rs1064797121 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.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.42G>A (p.Ala14=) rs777460187 0.00001
NM_170707.4(LMNA):c.439G>A (p.Ala147Thr) rs139875047 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622 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.480C>T (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 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.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.573G>A (p.Val191=) rs754525930 0.00001
NM_170707.4(LMNA):c.598A>G (p.Met200Val) rs777419380 0.00001
NM_170707.4(LMNA):c.606G>A (p.Glu202=) rs963378138 0.00001
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) rs987157491 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.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.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.662G>A (p.Arg221His) rs372567202 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 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.704G>A (p.Arg235His) rs759829161 0.00001
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp) rs775964460 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.771G>A (p.Glu257=) rs1471649557 0.00001
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala) rs1183004393 0.00001
NM_170707.4(LMNA):c.811-8C>T rs780929524 0.00001
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr) rs1553265433 0.00001
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys) rs1651446094 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 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.948G>A (p.Lys316=) rs778421025 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 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
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_170707.4(LMNA):c.997A>G (p.Thr333Ala) rs1308777587 0.00001
NM_170707.4(LMNA):c.998C>T (p.Thr333Ile) rs763069566 0.00001
NC_000001.10:g.(?_10394568)_(10566215_?)del
NC_000001.10:g.(?_10428505)_(10428616_?)dup
NC_000001.10:g.(?_10431179)_(10431340_?)del
NC_000001.10:g.(?_11906066)_(12066770_?)dup
NC_000001.10:g.(?_12008023)_(12059162_?)dup
NC_000001.10:g.(?_12030707)_(12071622_?)dup
NC_000001.10:g.(?_12049226)_(12059172_?)del
NC_000001.10:g.(?_12049226)_(12065004_?)del
NC_000001.10:g.(?_12052592)_(12052767_?)dup
NC_000001.10:g.(?_12052592)_(12057498_?)dup
NC_000001.10:g.(?_12052592)_(12071622_?)dup
NC_000001.10:g.(?_12052602)_(12057488_?)dup
NC_000001.10:g.(?_12056193)_(12056395_?)del
NC_000001.10:g.(?_12057334)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)del
NC_000001.10:g.(?_12058807)_(12059172_?)dup
NC_000001.10:g.(?_12058817)_(12059162_?)del
NC_000001.10:g.(?_12060714)_(12067233_?)del
NC_000001.10:g.(?_12064039)_(12069793_?)dup
NC_000001.10:g.(?_12069639)_(12069793_?)del
NC_000001.10:g.(?_12071543)_(12071632_?)dup
NC_000001.10:g.(?_154141761)_(156851434_?)dup
NC_000001.10:g.(?_155581953)_(156851434_?)del
NC_000001.10:g.(?_155870169)_(156108907_?)dup
NC_000001.10:g.(?_156083461)_(156110880_?)del
NC_000001.10:g.(?_156083461)_(156110880_?)dup
NC_000001.10:g.(?_156084690)_(156109650_?)dup
NC_000001.10:g.(?_156084700)_(156108907_?)del
NC_000001.10:g.(?_156084707)_(156108897_?)dup
NC_000001.10:g.(?_156084710)_(156085085_?)del
NC_000001.10:g.(?_156084710)_(156085085_?)dup
NC_000001.10:g.(?_156084710)_(156100584_?)del
NC_000001.10:g.(?_156084710)_(156108897_?)dup
NC_000001.10:g.(?_156100388)_(156100584_?)del
NC_000001.10:g.(?_156100388)_(156100584_?)dup
NC_000001.10:g.(?_156100388)_(156107554_?)dup
NC_000001.10:g.(?_156100388)_(156108568_?)del
NC_000001.10:g.(?_156102657)_(156104215_?)del
NC_000001.10:g.(?_156104174)_(156108897_?)del
NC_000001.10:g.(?_156104184)_(156105922_?)dup
NC_000001.10:g.(?_156104586)_(156108907_?)del
NC_000001.10:g.(?_156104797)_(156106169_?)del
NC_000001.10:g.(?_156105672)_(156108897_?)del
NC_000001.10:g.(?_156105681)_(156107037_?)del
NC_000001.10:g.(?_156105693)_(156106165_?)del
NC_000001.10:g.(?_156106692)_(156107554_?)del
NC_000001.10:g.(?_156108509)_(156108950_?)del
NC_000001.10:g.(?_156108851)_(156108897_?)del
NC_000001.10:g.(?_9304994)_(12569078_?)dup
NC_000001.11:g.(?_10232329)_(10371272_?)dup
NC_000001.11:g.(?_156114899)_(156126243_?)del
NC_000001.11:g.(?_156114899)_(156139859_?)del
NC_000001.11:g.(?_156114909)_(156115284_?)del
NC_000001.11:g.(?_156114919)_(156243162_?)del
NC_000001.11:g.(?_156134383)_(156134548_?)del
NC_000001.11:g.(?_156134393)_(156134538_?)del
NC_000001.11:g.(?_156134393)_(156139116_?)del
NC_000001.11:g.(?_156137634)_(156139126_?)del
NC_000001.11:g.12001772del
NC_000001.11:g.12001772dup
NC_000001.11:g.156115286C>T
NC_000007.13:g.(?_30054351)_(30963244_?)del
NC_000007.13:g.(?_30634538)_(30673476_?)dup
NC_000007.13:g.(?_30642630)_(30649366_?)del
NC_000007.13:g.(?_30655492)_(31018859_?)dup
NC_000007.14:g.(?_30598776)_(30598917_?)del
NC_000007.14:g.(?_30615886)_(30633870_?)dup
NC_000011.10:g.(?_62702448)_(62702569_?)del
NC_000011.9:g.(?_62439218)_(62470041_?)dup
NC_000011.9:g.(?_62457819)_(62462203_?)dup
NC_000011.9:g.(?_62457839)_(62460289_?)dup
NC_000011.9:g.(?_62457839)_(62462203_?)del
NC_000011.9:g.(?_62457839)_(62462203_?)dup
NC_000011.9:g.(?_62457839)_(62472984_?)del
NC_000016.10:g.(?_70264948)_(70282773_?)del
NC_000016.10:g.(?_70267649)_(70268389_?)del
NC_000016.10:g.(?_70267649)_(70271982_?)del
NC_000016.9:g.(?_70286604)_(70296447_?)dup
NC_000016.9:g.(?_70286614)_(70296437_?)dup
NC_000016.9:g.(?_70286614)_(70669268_?)dup
NC_000016.9:g.(?_70286624)_(70293109_?)del
NC_000016.9:g.(?_70286624)_(70296447_?)dup
NC_000016.9:g.(?_70286624)_(70304263_?)del
NC_000016.9:g.(?_70286624)_(70305895_?)del
NC_000016.9:g.(?_70286624)_(70316666_?)dup
NC_000016.9:g.(?_70289611)_(70293109_?)dup
NC_000016.9:g.(?_70294927)_(70311077_?)del
NC_000016.9:g.(?_70301542)_(70301732_?)del
NC_000016.9:g.(?_70301542)_(70305895_?)del
NC_000016.9:g.(?_70305664)_(70834803_?)dup
NC_000016.9:g.(?_70310369)_(70311077_?)del
NC_000016.9:g.(?_70310369)_(70311077_?)dup
NC_000016.9:g.(?_70310369)_(70316666_?)del
NC_000016.9:g.(?_70310369)_(70316686_?)dup
NC_000016.9:g.(?_70310389)_(70316666_?)dup
NC_000019.10:g.(?_49828429)_(49829110_?)del
NC_000019.9:g.(?_50332011)_(50333471_?)del
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+3C>G
NM_001122955.4(BSCL2):c.1005+3C>T rs372166360
NM_001122955.4(BSCL2):c.1005+4G>T rs367731146
NM_001122955.4(BSCL2):c.1005+8G>T rs864622631
NM_001122955.4(BSCL2):c.1005G>C (p.Gln335His)
NM_001122955.4(BSCL2):c.1006-1G>A rs777430457
NM_001122955.4(BSCL2):c.1006-20C>T
NM_001122955.4(BSCL2):c.1006-2A>C
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.1022G>C (p.Arg341Thr)
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His)
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs)
NM_001122955.4(BSCL2):c.1025A>C (p.Asp342Ala)
NM_001122955.4(BSCL2):c.1026C>G (p.Asp342Glu) rs1945297760
NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser) rs1440384464
NM_001122955.4(BSCL2):c.1034G>T (p.Arg345Leu) rs202072835
NM_001122955.4(BSCL2):c.1038G>T (p.Lys346Asn) rs1565143263
NM_001122955.4(BSCL2):c.1048C>G (p.Arg350Gly) rs763070770
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
NM_001122955.4(BSCL2):c.1063C>T (p.His355Tyr)
NM_001122955.4(BSCL2):c.1072+16G>C
NM_001122955.4(BSCL2):c.1072+3A>G
NM_001122955.4(BSCL2):c.1072+7dup rs1554982976
NM_001122955.4(BSCL2):c.1072G>C (p.Gly358Arg)
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.1075C>T (p.Pro359Ser) rs2134690233
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del)
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
NM_001122955.4(BSCL2):c.1089G>C (p.Glu363Asp)
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs) rs1554982914
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs) rs2134690008
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=) rs2134689968
NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His) rs778455259
NM_001122955.4(BSCL2):c.1120G>T (p.Asp374Tyr) rs778455259
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter) rs1945289474
NM_001122955.4(BSCL2):c.1141C>A (p.Pro381Thr) rs1294077057
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=) rs150914934
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)
NM_001122955.4(BSCL2):c.1153+12C>T
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)
NM_001122955.4(BSCL2):c.1154-13C>T
NM_001122955.4(BSCL2):c.1154-14C>A
NM_001122955.4(BSCL2):c.1154-1del rs1945285043
NM_001122955.4(BSCL2):c.1154-20C>T
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter) rs2134689565
NM_001122955.4(BSCL2):c.1161G>C (p.Gln387His)
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1168G>C (p.Glu390Gln)
NM_001122955.4(BSCL2):c.1168GAG[2] (p.Glu392del) rs769661232
NM_001122955.4(BSCL2):c.1171G>A (p.Glu391Lys) rs1195655527
NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn) rs1945283531
NM_001122955.4(BSCL2):c.1180C>G (p.Pro394Ala)
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.1220C>T (p.Pro407Leu)
NM_001122955.4(BSCL2):c.1222G>C (p.Glu408Gln)
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)
NM_001122955.4(BSCL2):c.1234+19C>A
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=) rs1945277080
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1268C>T (p.Thr423Met) rs1266361176
NM_001122955.4(BSCL2):c.1270G>C (p.Glu424Gln)
NM_001122955.4(BSCL2):c.1276A>G (p.Asn426Asp) rs1554982825
NM_001122955.4(BSCL2):c.1277A>G (p.Asn426Ser) rs1450251165
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4]) rs771054711
NM_001122955.4(BSCL2):c.1288C>A (p.Pro430Thr)
NM_001122955.4(BSCL2):c.1291G>C (p.Ala431Pro)
NM_001122955.4(BSCL2):c.1294C>T (p.Pro432Ser)
NM_001122955.4(BSCL2):c.1295C>T (p.Pro432Leu)
NM_001122955.4(BSCL2):c.1297G>A (p.Ala433Thr)
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro) rs199584887
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro) rs199787351
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=) rs1945274691
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile) rs876661160
NM_001122955.4(BSCL2):c.1330G>A (p.Gly444Ser) rs1488410118
NM_001122955.4(BSCL2):c.1335_1340delinsGTTCAG (p.Ser445_Glu447delinsArgPheArg)
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
NM_001122955.4(BSCL2):c.1343C>T (p.Pro448Leu)
NM_001122955.4(BSCL2):c.1345G>A (p.Ala449Thr)
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala) rs779952369
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=) rs1426557167
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs) rs779154593
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=) rs2134688373
NM_001122955.4(BSCL2):c.1369C>T (p.Pro457Ser) rs769048111
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile) rs1945272396
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=) rs1590867827
NM_001122955.4(BSCL2):c.1376G>A (p.Cys459Tyr) rs775890636
NM_001122955.4(BSCL2):c.193A>G (p.Met65Val)
NM_001122955.4(BSCL2):c.205C>T (p.Pro69Ser)
NM_001122955.4(BSCL2):c.206C>T (p.Pro69Leu)
NM_001122955.4(BSCL2):c.214C>A (p.Pro72Thr)
NM_001122955.4(BSCL2):c.219C>G (p.Ala73=)
NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro)
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=) rs2083512739
NM_001122955.4(BSCL2):c.247G>A (p.Val83Ile) rs770641122
NM_001122955.4(BSCL2):c.250T>G (p.Leu84Val)
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=) rs2134740784
NM_001122955.4(BSCL2):c.265C>T (p.Arg89Cys)
NM_001122955.4(BSCL2):c.266G>C (p.Arg89Pro) rs780387759
NM_001122955.4(BSCL2):c.266G>T (p.Arg89Leu) rs780387759
NM_001122955.4(BSCL2):c.268A>T (p.Arg90Trp) rs1428360757
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.281A>T (p.Gln94Leu) rs2134740707
NM_001122955.4(BSCL2):c.289G>A (p.Val97Met) rs2083510633
NM_001122955.4(BSCL2):c.294C>T (p.Leu98=)
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=) rs1590885150
NM_001122955.4(BSCL2):c.311T>A (p.Leu104His) rs990055355
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=) rs1590885075
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)
NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=)
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe) rs370905417
NM_001122955.4(BSCL2):c.361A>G (p.Met121Val) rs2134740508
NM_001122955.4(BSCL2):c.363G>T (p.Met121Ile) rs2134740499
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.368C>T (p.Thr123Ile) rs1308826157
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs)
NM_001122955.4(BSCL2):c.376C>T (p.His126Tyr)
NM_001122955.4(BSCL2):c.388G>T (p.Val130Leu) rs2083508973
NM_001122955.4(BSCL2):c.396C>G (p.Phe132Leu)
NM_001122955.4(BSCL2):c.400T>C (p.Tyr134His)
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.409G>A (p.Asp137Asn) rs879253900
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys) rs1590881712
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe) rs1590881708
NM_001122955.4(BSCL2):c.440C>T (p.Ser147Phe)
NM_001122955.4(BSCL2):c.445C>A (p.Pro149Thr)
NM_001122955.4(BSCL2):c.452C>G (p.Ala151Gly) rs1003234218
NM_001122955.4(BSCL2):c.456T>C (p.Asn152=)
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala) rs1590881633
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) rs772536764
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys) rs772536764
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
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.487-1G>A
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.487-4G>A
NM_001122955.4(BSCL2):c.497A>G (p.Tyr166Cys)
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=) rs1590873161
NM_001122955.4(BSCL2):c.506C>T (p.Pro169Leu) rs1325008761
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.509A>T (p.Tyr170Phe)
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His) rs377609967
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
NM_001122955.4(BSCL2):c.529G>C (p.Glu177Gln)
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.553C>T (p.Gln185Ter)
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val)
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer)
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter)
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.630+4A>G
NM_001122955.4(BSCL2):c.630+5G>T rs906321138
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.630G>C (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.630G>T (p.Ser210=)
NM_001122955.4(BSCL2):c.631-13C>T
NM_001122955.4(BSCL2):c.631-14C>T
NM_001122955.4(BSCL2):c.631-5G>A
NM_001122955.4(BSCL2):c.631-6C>A rs768294248
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.635T>C (p.Met212Thr)
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His)
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile)
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.679G>T (p.Val227Phe) rs1565144788
NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del) rs1131691748
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
NM_001122955.4(BSCL2):c.711A>C (p.Ala237=)
NM_001122955.4(BSCL2):c.735G>A (p.Val245=)
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His) rs1945345474
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)
NM_001122955.4(BSCL2):c.759G>A (p.Glu253=)
NM_001122955.4(BSCL2):c.765+16G>A rs183210574
NM_001122955.4(BSCL2):c.765+7G>C
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) rs774120735
NM_001122955.4(BSCL2):c.766-10C>G rs367716875
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=) rs746544677
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
NM_001122955.4(BSCL2):c.790A>G (p.Ile264Val)
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del)
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=) rs1590870663
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) rs763884653
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn) rs2134695330
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.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)
NM_001122955.4(BSCL2):c.830A>C (p.Tyr277Ser)
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)
NM_001122955.4(BSCL2):c.836G>T (p.Arg279Leu) rs142608646
NM_001122955.4(BSCL2):c.837C>T (p.Arg279=)
NM_001122955.4(BSCL2):c.849C>G (p.His283Gln) rs911982128
NM_001122955.4(BSCL2):c.853A>G (p.Thr285Ala) rs749862649
NM_001122955.4(BSCL2):c.859C>T (p.Leu287Phe) rs1945335146
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.864-16C>G
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.882C>G (p.Phe294Leu) rs786204131
NM_001122955.4(BSCL2):c.883C>A (p.Pro295Thr) rs935812889
NM_001122955.4(BSCL2):c.887T>C (p.Met296Thr)
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.908T>C (p.Val303Ala)
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)
NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile) rs758460754
NM_001122955.4(BSCL2):c.925T>A (p.Phe309Ile)
NM_001122955.4(BSCL2):c.928C>G (p.Leu310Val)
NM_001122955.4(BSCL2):c.928C>T (p.Leu310Phe)
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn)
NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr)
NM_001122955.4(BSCL2):c.940G>C (p.Val314Leu)
NM_001122955.4(BSCL2):c.946T>C (p.Phe316Leu)
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys) rs1470975752
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=) rs1158119987
NM_001122955.4(BSCL2):c.963G>A (p.Trp321Ter)
NM_001122955.4(BSCL2):c.968G>C (p.Trp323Ser) rs367783346
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.971G>C (p.Gly324Ala) rs1945304059
NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser) rs760106114
NM_001122955.4(BSCL2):c.973G>T (p.Gly325Cys) rs760106114
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001122955.4(BSCL2):c.983C>T (p.Pro328Leu)
NM_001122955.4(BSCL2):c.984C>G (p.Pro328=)
NM_001122955.4(BSCL2):c.986G>T (p.Arg329Leu)
NM_001365951.3(KIF1B):c.*1_*4dup (p.Ter1817=) rs2102365849
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+12del
NM_001365951.3(KIF1B):c.1037+16C>G
NM_001365951.3(KIF1B):c.1037+4C>T rs2102222404
NM_001365951.3(KIF1B):c.1037+7dup
NM_001365951.3(KIF1B):c.1038-15dup rs765965212
NM_001365951.3(KIF1B):c.1038-18T>C
NM_001365951.3(KIF1B):c.1038-20A>C
NM_001365951.3(KIF1B):c.1038A>G (p.Arg346=)
NM_001365951.3(KIF1B):c.1044A>G (p.Ala348=) rs2102225536
NM_001365951.3(KIF1B):c.1048C>T (p.Arg350Cys) rs1649205873
NM_001365951.3(KIF1B):c.1049G>A (p.Arg350His)
NM_001365951.3(KIF1B):c.1051G>T (p.Ala351Ser)
NM_001365951.3(KIF1B):c.1055A>C (p.Lys352Thr)
NM_001365951.3(KIF1B):c.105C>T (p.Thr35=)
NM_001365951.3(KIF1B):c.106+19C>T
NM_001365951.3(KIF1B):c.1064A>C (p.Lys355Thr)
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.1075G>C (p.Val359Leu)
NM_001365951.3(KIF1B):c.1075G>T (p.Val359Phe) rs1437891155
NM_001365951.3(KIF1B):c.107G>A (p.Ser36Asn)
NM_001365951.3(KIF1B):c.1082A>G (p.Asn361Ser)
NM_001365951.3(KIF1B):c.1109G>A (p.Arg370His) rs764203468
NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile) rs1372224953
NM_001365951.3(KIF1B):c.1132C>T (p.Arg378Trp)
NM_001365951.3(KIF1B):c.1145T>G (p.Leu382Arg)
NM_001365951.3(KIF1B):c.1150C>T (p.Arg384Cys)
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.1179T>C (p.Asp393=) rs1060501914
NM_001365951.3(KIF1B):c.117C>T (p.Asn39=) rs2102181683
NM_001365951.3(KIF1B):c.118C>T (p.Pro40Ser)
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.1298C>G (p.Thr433Arg)
NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)
NM_001365951.3(KIF1B):c.1304C>T (p.Ser435Phe)
NM_001365951.3(KIF1B):c.1305C>T (p.Ser435=) rs1649454373
NM_001365951.3(KIF1B):c.1307T>C (p.Met436Thr)
NM_001365951.3(KIF1B):c.1308G>T (p.Met436Ile)
NM_001365951.3(KIF1B):c.1319C>G (p.Thr440Ser) rs1649455397
NM_001365951.3(KIF1B):c.1323A>T (p.Ser441=) rs2102232709
NM_001365951.3(KIF1B):c.1328C>T (p.Pro443Leu)
NM_001365951.3(KIF1B):c.1329A>G (p.Pro443=)
NM_001365951.3(KIF1B):c.1345A>G (p.Ser449Gly)
NM_001365951.3(KIF1B):c.1346G>T (p.Ser449Ile)
NM_001365951.3(KIF1B):c.1348A>G (p.Ser450Gly)
NM_001365951.3(KIF1B):c.1354G>A (p.Val452Met)
NM_001365951.3(KIF1B):c.135A>C (p.Glu45Asp)
NM_001365951.3(KIF1B):c.1362G>C (p.Leu454Phe) rs2102232805
NM_001365951.3(KIF1B):c.1364C>A (p.Thr455Lys)
NM_001365951.3(KIF1B):c.1369G>A (p.Val457Met) rs1649459479
NM_001365951.3(KIF1B):c.137C>T (p.Ala46Val) rs770626277
NM_001365951.3(KIF1B):c.1383A>G (p.Gln461=) rs1649460480
NM_001365951.3(KIF1B):c.1415A>G (p.Glu472Gly)
NM_001365951.3(KIF1B):c.1417G>A (p.Ala473Thr)
NM_001365951.3(KIF1B):c.1427G>A (p.Arg476His)
NM_001365951.3(KIF1B):c.1434+5del rs1569695564
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.1450A>T (p.Ile484Phe) rs2102247580
NM_001365951.3(KIF1B):c.1482G>A (p.Lys494=)
NM_001365951.3(KIF1B):c.1486C>G (p.Arg496Gly)
NM_001365951.3(KIF1B):c.1486C>T (p.Arg496Cys)
NM_001365951.3(KIF1B):c.1487G>A (p.Arg496His) rs1418377932
NM_001365951.3(KIF1B):c.1496A>T (p.Glu499Val)
NM_001365951.3(KIF1B):c.1507A>G (p.Met503Val) rs1060501913
NM_001365951.3(KIF1B):c.1508T>C (p.Met503Thr)
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.1514+6G>A
NM_001365951.3(KIF1B):c.1515-18T>G rs375149695
NM_001365951.3(KIF1B):c.1515-6del
NM_001365951.3(KIF1B):c.1515A>G (p.Arg505=)
NM_001365951.3(KIF1B):c.1518G>A (p.Glu506=)
NM_001365951.3(KIF1B):c.1524G>A (p.Leu508=)
NM_001365951.3(KIF1B):c.1533G>A (p.Glu511=)
NM_001365951.3(KIF1B):c.153C>G (p.Ser51Arg)
NM_001365951.3(KIF1B):c.1549C>T (p.Arg517Trp)
NM_001365951.3(KIF1B):c.1550G>A (p.Arg517Gln)
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.157G>A (p.Asp53Asn)
NM_001365951.3(KIF1B):c.1589A>G (p.Lys530Arg)
NM_001365951.3(KIF1B):c.1590+10_1590+11del
NM_001365951.3(KIF1B):c.1590+4G>C rs2102249437
NM_001365951.3(KIF1B):c.1590+5G>A
NM_001365951.3(KIF1B):c.1590+6A>G
NM_001365951.3(KIF1B):c.1590+8A>G rs1168139281
NM_001365951.3(KIF1B):c.1590+9C>T
NM_001365951.3(KIF1B):c.1591-11A>G
NM_001365951.3(KIF1B):c.1593C>A (p.Thr531=)
NM_001365951.3(KIF1B):c.1608C>T (p.Asn536=) rs2102255177
NM_001365951.3(KIF1B):c.1612A>G (p.Asn538Asp) rs1569742672
NM_001365951.3(KIF1B):c.161A>G (p.Tyr54Cys)
NM_001365951.3(KIF1B):c.1620C>T (p.Asp540=)
NM_001365951.3(KIF1B):c.1622C>A (p.Pro541Gln)
NM_001365951.3(KIF1B):c.1624C>T (p.Leu542=)
NM_001365951.3(KIF1B):c.1658A>G (p.Asp553Gly)
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.1671-3C>A
NM_001365951.3(KIF1B):c.1671-3C>G rs1302986414
NM_001365951.3(KIF1B):c.1671-6G>A rs1420466491
NM_001365951.3(KIF1B):c.1671G>T (p.Arg557Ser)
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_001365951.3(KIF1B):c.1694G>A (p.Arg565Gln)
NM_001365951.3(KIF1B):c.1697G>T (p.Arg566Leu) rs751881065
NM_001365951.3(KIF1B):c.1708G>C (p.Val570Leu)
NM_001365951.3(KIF1B):c.1717G>A (p.Gly573Arg)
NM_001365951.3(KIF1B):c.1719G>T (p.Gly573=)
NM_001365951.3(KIF1B):c.1720G>A (p.Ala574Thr)
NM_001365951.3(KIF1B):c.1720G>C (p.Ala574Pro) rs749223318
NM_001365951.3(KIF1B):c.1723C>T (p.His575Tyr)
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.1751G>A (p.Arg584Gln)
NM_001365951.3(KIF1B):c.1768A>G (p.Ser590Gly)
NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg) rs139764209
NM_001365951.3(KIF1B):c.1772G>T (p.Gly591Val)
NM_001365951.3(KIF1B):c.1777+11C>G
NM_001365951.3(KIF1B):c.1777+14G>A rs750048938
NM_001365951.3(KIF1B):c.1777+1G>T
NM_001365951.3(KIF1B):c.1777+5G>C
NM_001365951.3(KIF1B):c.1777+7A>G
NM_001365951.3(KIF1B):c.1777+7A>T rs367898139
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.1778T>A (p.Val593Asp) rs1462866416
NM_001365951.3(KIF1B):c.1780A>G (p.Ile594Val) rs1650274413
NM_001365951.3(KIF1B):c.1783G>A (p.Val595Met)
NM_001365951.3(KIF1B):c.1786A>G (p.Thr596Ala)
NM_001365951.3(KIF1B):c.1787C>T (p.Thr596Ile)
NM_001365951.3(KIF1B):c.1794G>T (p.Glu598Asp)
NM_001365951.3(KIF1B):c.1801G>C (p.Glu601Gln)
NM_001365951.3(KIF1B):c.1802A>G (p.Glu601Gly) rs2102258159
NM_001365951.3(KIF1B):c.1805G>A (p.Arg602His)
NM_001365951.3(KIF1B):c.180C>T (p.Thr60=) rs1051505837
NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)
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.183A>G (p.Ser61=) rs756935623
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.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.184-7T>C
NM_001365951.3(KIF1B):c.184-9T>G
NM_001365951.3(KIF1B):c.1840C>A (p.Gln614Lys)
NM_001365951.3(KIF1B):c.1844C>G (p.Pro615Arg)
NM_001365951.3(KIF1B):c.1856G>A (p.Arg619His)
NM_001365951.3(KIF1B):c.185C>G (p.Pro62Arg) rs1262165101
NM_001365951.3(KIF1B):c.1861+12A>G
NM_001365951.3(KIF1B):c.1861+3G>A
NM_001365951.3(KIF1B):c.1861+7C>G
NM_001365951.3(KIF1B):c.1862-1_1881dup
NM_001365951.3(KIF1B):c.1862-20A>G rs751429277
NM_001365951.3(KIF1B):c.1862-7G>A
NM_001365951.3(KIF1B):c.1865A>C (p.Asn622Thr)
NM_001365951.3(KIF1B):c.1868G>A (p.Arg623His) rs1650293838
NM_001365951.3(KIF1B):c.1876A>G (p.Met626Val) rs1391371944
NM_001365951.3(KIF1B):c.1892T>C (p.Val631Ala)
NM_001365951.3(KIF1B):c.1897C>T (p.Arg633Cys)
NM_001365951.3(KIF1B):c.1898G>A (p.Arg633His)
NM_001365951.3(KIF1B):c.1899C>A (p.Arg633=)
NM_001365951.3(KIF1B):c.1899C>T (p.Arg633=) rs1310291443
NM_001365951.3(KIF1B):c.1906C>G (p.His636Asp) rs772578159
NM_001365951.3(KIF1B):c.1909C>G (p.Pro637Ala)
NM_001365951.3(KIF1B):c.1911G>T (p.Pro637=) rs138876135
NM_001365951.3(KIF1B):c.1914A>G (p.Glu638=)
NM_001365951.3(KIF1B):c.1921C>T (p.Arg641Ter) rs1650296802
NM_001365951.3(KIF1B):c.1925C>T (p.Ala642Val)
NM_001365951.3(KIF1B):c.1929G>A (p.Glu643=)
NM_001365951.3(KIF1B):c.1930C>A (p.Arg644=) rs1195706897
NM_001365951.3(KIF1B):c.1934A>G (p.Glu645Gly)
NM_001365951.3(KIF1B):c.1940C>T (p.Thr647Ile) rs1178666545
NM_001365951.3(KIF1B):c.1942C>T (p.Pro648Ser) rs2102259084
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) rs766127664
NM_001365951.3(KIF1B):c.194C>A (p.Pro65His)
NM_001365951.3(KIF1B):c.1950T>C (p.Ala650=)
NM_001365951.3(KIF1B):c.1950T>G (p.Ala650=)
NM_001365951.3(KIF1B):c.1955C>A (p.Thr652Asn) rs142881321
NM_001365951.3(KIF1B):c.1958C>G (p.Pro653Arg)
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) rs1332046524
NM_001365951.3(KIF1B):c.1969G>A (p.Val657Met)
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.2042G>A (p.Arg681Lys)
NM_001365951.3(KIF1B):c.2043-3T>C
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.2069A>G (p.Lys690Arg) rs2102259539
NM_001365951.3(KIF1B):c.2115+10C>G
NM_001365951.3(KIF1B):c.2115+5_2115+6insT
NM_001365951.3(KIF1B):c.2116-18T>G
NM_001365951.3(KIF1B):c.2126G>A (p.Ser709Asn)
NM_001365951.3(KIF1B):c.2128A>C (p.Lys710Gln)
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.2144A>G (p.Gln715Arg)
NM_001365951.3(KIF1B):c.2148G>A (p.Lys716=)
NM_001365951.3(KIF1B):c.2159C>G (p.Thr720Ser)
NM_001365951.3(KIF1B):c.2162G>A (p.Arg721Gln)
NM_001365951.3(KIF1B):c.2170G>T (p.Ala724Ser)
NM_001365951.3(KIF1B):c.2176G>A (p.Glu726Lys)
NM_001365951.3(KIF1B):c.2190GGA[1] (p.Glu736del) rs770689187
NM_001365951.3(KIF1B):c.2192AGGAAGAAG[1] (p.Glu734_Glu736del) rs1187447780
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.2240C>G (p.Ala747Gly)
NM_001365951.3(KIF1B):c.2244A>G (p.Gln748=)
NM_001365951.3(KIF1B):c.2255G>A (p.Arg752Gln)
NM_001365951.3(KIF1B):c.2259A>G (p.Lys753=)
NM_001365951.3(KIF1B):c.2265G>C (p.Lys755Asn)
NM_001365951.3(KIF1B):c.2269C>T (p.His757Tyr)
NM_001365951.3(KIF1B):c.2273A>G (p.Gln758Arg)
NM_001365951.3(KIF1B):c.2281T>G (p.Ser761Ala) rs1651532692
NM_001365951.3(KIF1B):c.2296C>T (p.Leu766Phe)
NM_001365951.3(KIF1B):c.229A>G (p.Ile77Val)
NM_001365951.3(KIF1B):c.2303G>A (p.Gly768Asp) rs2102296302
NM_001365951.3(KIF1B):c.2306A>G (p.Asn769Ser)
NM_001365951.3(KIF1B):c.2310C>A (p.Ala770=)
NM_001365951.3(KIF1B):c.2311G>A (p.Val771Met)
NM_001365951.3(KIF1B):c.2339G>A (p.Ser780Asn)
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+1G>A rs1651536655
NM_001365951.3(KIF1B):c.2358+9C>T rs1651536955
NM_001365951.3(KIF1B):c.2358G>C (p.Lys786Asn)
NM_001365951.3(KIF1B):c.2359-11T>C
NM_001365951.3(KIF1B):c.2359-12C>A
NM_001365951.3(KIF1B):c.2359G>A (p.Val787Met)
NM_001365951.3(KIF1B):c.2363A>G (p.Gln788Arg)
NM_001365951.3(KIF1B):c.2368C>G (p.Gln790Glu)
NM_001365951.3(KIF1B):c.236A>G (p.Lys79Arg) rs1647931694
NM_001365951.3(KIF1B):c.2384C>G (p.Thr795Ser) rs2102298851
NM_001365951.3(KIF1B):c.2389A>G (p.Thr797Ala)
NM_001365951.3(KIF1B):c.2390C>T (p.Thr797Ile) rs767564247
NM_001365951.3(KIF1B):c.2391A>G (p.Thr797=) rs1651619021
NM_001365951.3(KIF1B):c.2392C>G (p.Leu798Val)
NM_001365951.3(KIF1B):c.2393T>C (p.Leu798Pro) rs1651619133
NM_001365951.3(KIF1B):c.2399C>A (p.Ser800Tyr) rs1651619501
NM_001365951.3(KIF1B):c.2399C>T (p.Ser800Phe)
NM_001365951.3(KIF1B):c.23T>C (p.Val8Ala)
NM_001365951.3(KIF1B):c.2422C>T (p.Pro808Ser)
NM_001365951.3(KIF1B):c.2437A>G (p.Lys813Glu)
NM_001365951.3(KIF1B):c.2444A>G (p.His815Arg)
NM_001365951.3(KIF1B):c.2463T>A (p.Pro821=)
NM_001365951.3(KIF1B):c.2464C>T (p.Arg822Cys)
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.2479G>A (p.Val827Ile)
NM_001365951.3(KIF1B):c.2495T>G (p.Leu832Trp)
NM_001365951.3(KIF1B):c.2504G>A (p.Gly835Glu) rs2102299042
NM_001365951.3(KIF1B):c.2538-19C>T
NM_001365951.3(KIF1B):c.2538-3T>C
NM_001365951.3(KIF1B):c.2538-9A>G
NM_001365951.3(KIF1B):c.2562G>A (p.Glu854=)
NM_001365951.3(KIF1B):c.2563A>T (p.Met855Leu) rs781647232
NM_001365951.3(KIF1B):c.2564T>A (p.Met855Lys)
NM_001365951.3(KIF1B):c.2564T>C (p.Met855Thr)
NM_001365951.3(KIF1B):c.2580G>A (p.Gly860=)
NM_001365951.3(KIF1B):c.2581G>A (p.Glu861Lys)
NM_001365951.3(KIF1B):c.2584A>C (p.Met862Leu)
NM_001365951.3(KIF1B):c.2584A>G (p.Met862Val) rs1345626148
NM_001365951.3(KIF1B):c.2588C>T (p.Ala863Val)
NM_001365951.3(KIF1B):c.2590T>A (p.Ser864Thr)
NM_001365951.3(KIF1B):c.2594G>A (p.Ser865Asn)
NM_001365951.3(KIF1B):c.2595T>C (p.Ser865=)
NM_001365951.3(KIF1B):c.2609G>A (p.Ser870Asn) rs1553167616
NM_001365951.3(KIF1B):c.2613A>C (p.Glu871Asp)
NM_001365951.3(KIF1B):c.2615C>G (p.Thr872Ser)
NM_001365951.3(KIF1B):c.2617A>C (p.Thr873Pro)
NM_001365951.3(KIF1B):c.2617A>T (p.Thr873Ser)
NM_001365951.3(KIF1B):c.2619T>A (p.Thr873=)
NM_001365951.3(KIF1B):c.261G>A (p.Glu87=)
NM_001365951.3(KIF1B):c.2620G>A (p.Val874Met)
NM_001365951.3(KIF1B):c.2622G>A (p.Val874=)
NM_001365951.3(KIF1B):c.2624C>A (p.Thr875Asn)
NM_001365951.3(KIF1B):c.2626G>A (p.Gly876Ser)
NM_001365951.3(KIF1B):c.2627G>A (p.Gly876Asp)
NM_001365951.3(KIF1B):c.2631C>T (p.Ser877=)
NM_001365951.3(KIF1B):c.2636C>T (p.Pro879Leu)
NM_001365951.3(KIF1B):c.2647C>A (p.Arg883=) rs2102300290
NM_001365951.3(KIF1B):c.2647C>T (p.Arg883Trp)
NM_001365951.3(KIF1B):c.2649G>A (p.Arg883=)
NM_001365951.3(KIF1B):c.2653C>A (p.His885Asn) rs1483652105
NM_001365951.3(KIF1B):c.2664A>G (p.Lys888=) rs2102300309
NM_001365951.3(KIF1B):c.2672G>A (p.Gly891Glu)
NM_001365951.3(KIF1B):c.2675+18T>C
NM_001365951.3(KIF1B):c.2676-19C>T
NM_001365951.3(KIF1B):c.2676-3T>C
NM_001365951.3(KIF1B):c.2676-6_2676-5del rs2102301578
NM_001365951.3(KIF1B):c.2678C>T (p.Ser893Phe)
NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser)
NM_001365951.3(KIF1B):c.2696G>A (p.Cys899Tyr)
NM_001365951.3(KIF1B):c.2707C>A (p.Arg903Ser)
NM_001365951.3(KIF1B):c.2707C>G (p.Arg903Gly) rs868254486
NM_001365951.3(KIF1B):c.2708G>C (p.Arg903Pro) rs778403355
NM_001365951.3(KIF1B):c.2716G>A (p.Asp906Asn) rs758389718
NM_001365951.3(KIF1B):c.2716G>T (p.Asp906Tyr)
NM_001365951.3(KIF1B):c.2720G>A (p.Arg907His) rs1651714039
NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=) rs746863711
NM_001365951.3(KIF1B):c.2753C>T (p.Ser918Phe)
NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)
NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)
NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys)
NM_001365951.3(KIF1B):c.277A>G (p.Ile93Val)
NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val) rs2102301786
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.2837A>G (p.Asp946Gly) rs2102301877
NM_001365951.3(KIF1B):c.2838C>A (p.Asp946Glu)
NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)
NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)
NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg)
NM_001365951.3(KIF1B):c.285C>A (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.285C>T (p.Ala95=)
NM_001365951.3(KIF1B):c.2863C>T (p.Leu955Phe)
NM_001365951.3(KIF1B):c.2869A>G (p.Ser957Gly) rs556117169
NM_001365951.3(KIF1B):c.2875_2883del (p.Gly959_Asp961del) rs1651722145
NM_001365951.3(KIF1B):c.2876G>T (p.Gly959Val)
NM_001365951.3(KIF1B):c.2885C>T (p.Pro962Leu) rs762619916
NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr)
NM_001365951.3(KIF1B):c.2905T>C (p.Trp969Arg) rs1569831309
NM_001365951.3(KIF1B):c.2909T>A (p.Phe970Tyr)
NM_001365951.3(KIF1B):c.2913T>A (p.Ile971=)
NM_001365951.3(KIF1B):c.2918T>G (p.Val973Gly)
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.2924+5G>A
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.2951T>C (p.Leu984Pro)
NM_001365951.3(KIF1B):c.2956C>T (p.Pro986Ser)
NM_001365951.3(KIF1B):c.2965_2966del (p.Leu989fs)
NM_001365951.3(KIF1B):c.2971del (p.His991fs) rs761398418
NM_001365951.3(KIF1B):c.2974A>C (p.Arg992=) rs750405644
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
NM_001365951.3(KIF1B):c.3003A>G (p.Glu1001=) rs1652092259
NM_001365951.3(KIF1B):c.3006G>A (p.Val1002=)
NM_001365951.3(KIF1B):c.3008G>A (p.Arg1003Gln)
NM_001365951.3(KIF1B):c.3009G>A (p.Arg1003=)
NM_001365951.3(KIF1B):c.3019C>T (p.Arg1007Cys)
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) rs145494902
NM_001365951.3(KIF1B):c.3020G>T (p.Arg1007Leu)
NM_001365951.3(KIF1B):c.3023T>C (p.Val1008Ala)
NM_001365951.3(KIF1B):c.3024G>A (p.Val1008=)
NM_001365951.3(KIF1B):c.3032A>G (p.Gln1011Arg)
NM_001365951.3(KIF1B):c.3034G>A (p.Ala1012Thr)
NM_001365951.3(KIF1B):c.3036C>A (p.Ala1012=)
NM_001365951.3(KIF1B):c.3036C>T (p.Ala1012=)
NM_001365951.3(KIF1B):c.3040G>A (p.Ala1014Thr) rs772779601
NM_001365951.3(KIF1B):c.3040G>T (p.Ala1014Ser)
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.3043+3A>T rs753646018
NM_001365951.3(KIF1B):c.3044-10del rs758417740
NM_001365951.3(KIF1B):c.3044-10dup
NM_001365951.3(KIF1B):c.3044-15T>C rs771795825
NM_001365951.3(KIF1B):c.3044-18T>A
NM_001365951.3(KIF1B):c.3044C>T (p.Ala1015Val)
NM_001365951.3(KIF1B):c.3046G>A (p.Asp1016Asn)
NM_001365951.3(KIF1B):c.3055G>A (p.Ala1019Thr)
NM_001365951.3(KIF1B):c.3061G>A (p.Asp1021Asn)
NM_001365951.3(KIF1B):c.3066T>C (p.Tyr1022=)
NM_001365951.3(KIF1B):c.306A>G (p.Gly102=)
NM_001365951.3(KIF1B):c.3070T>C (p.Ser1024Pro)
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365951.3(KIF1B):c.3080G>A (p.Arg1027Gln) rs2102315292
NM_001365951.3(KIF1B):c.3097A>G (p.Lys1033Glu) rs1279714159
NM_001365951.3(KIF1B):c.3104C>A (p.Ser1035Tyr) rs1652195142
NM_001365951.3(KIF1B):c.3112A>G (p.Asn1038Asp) rs1342716199
NM_001365951.3(KIF1B):c.3125A>C (p.Asn1042Thr)
NM_001365951.3(KIF1B):c.3125A>G (p.Asn1042Ser) rs201731199
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.3145G>T (p.Val1049Phe)
NM_001365951.3(KIF1B):c.3153G>A (p.Met1051Ile) rs368851581
NM_001365951.3(KIF1B):c.3155C>T (p.Thr1052Ile)
NM_001365951.3(KIF1B):c.3157C>G (p.Arg1053Gly)
NM_001365951.3(KIF1B):c.3157C>T (p.Arg1053Cys)
NM_001365951.3(KIF1B):c.3158G>A (p.Arg1053His)
NM_001365951.3(KIF1B):c.3160T>C (p.Ser1054Pro)
NM_001365951.3(KIF1B):c.3161C>G (p.Ser1054Cys)
NM_001365951.3(KIF1B):c.3166C>T (p.Leu1056=)
NM_001365951.3(KIF1B):c.3170C>G (p.Ser1057Cys)
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.3208A>G (p.Ser1070Gly)
NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)
NM_001365951.3(KIF1B):c.3233A>C (p.Glu1078Ala)
NM_001365951.3(KIF1B):c.3245G>C (p.Arg1082Pro)
NM_001365951.3(KIF1B):c.3250A>C (p.Asn1084His)
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.3259+3A>G
NM_001365951.3(KIF1B):c.3259+4T>C
NM_001365951.3(KIF1B):c.3259+6T>C
NM_001365951.3(KIF1B):c.3266A>T (p.Lys1089Met) rs1652219026
NM_001365951.3(KIF1B):c.3284A>C (p.Asp1095Ala)
NM_001365951.3(KIF1B):c.3299T>C (p.Met1100Thr)
NM_001365951.3(KIF1B):c.329A>C (p.Lys110Thr)
NM_001365951.3(KIF1B):c.3314A>C (p.Glu1105Ala)
NM_001365951.3(KIF1B):c.3323_3324delinsCA (p.Gly1108Ala)
NM_001365951.3(KIF1B):c.3324C>G (p.Gly1108=)
NM_001365951.3(KIF1B):c.3330C>T (p.His1110=)
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
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.3359G>A (p.Arg1120Gln)
NM_001365951.3(KIF1B):c.3360A>C (p.Arg1120=)
NM_001365951.3(KIF1B):c.3371T>G (p.Leu1124Trp)
NM_001365951.3(KIF1B):c.3373C>T (p.Gln1125Ter)
NM_001365951.3(KIF1B):c.3379A>G (p.Ser1127Gly)
NM_001365951.3(KIF1B):c.3380G>A (p.Ser1127Asn)
NM_001365951.3(KIF1B):c.3391C>T (p.Pro1131Ser) rs1232790642
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.3431A>G (p.His1144Arg) rs777585476
NM_001365951.3(KIF1B):c.3440A>T (p.Asp1147Val)
NM_001365951.3(KIF1B):c.3452C>T (p.Ser1151Phe)
NM_001365951.3(KIF1B):c.3455C>T (p.Thr1152Met) rs775773486
NM_001365951.3(KIF1B):c.3456G>T (p.Thr1152=)
NM_001365951.3(KIF1B):c.3459G>T (p.Glu1153Asp)
NM_001365951.3(KIF1B):c.3462C>T (p.Pro1154=)
NM_001365951.3(KIF1B):c.3465C>T (p.Leu1155=)
NM_001365951.3(KIF1B):c.3470A>G (p.Asn1157Ser)
NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)
NM_001365951.3(KIF1B):c.3479G>A (p.Arg1160Lys)
NM_001365951.3(KIF1B):c.3484A>G (p.Ser1162Gly)
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.3510G>T (p.Gln1170His)
NM_001365951.3(KIF1B):c.3513+10A>G rs773664561
NM_001365951.3(KIF1B):c.3513+5G>A
NM_001365951.3(KIF1B):c.3513+8_3513+9delinsCG
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.3516T>G (p.Ile1172Met)
NM_001365951.3(KIF1B):c.351C>T (p.Gly117=)
NM_001365951.3(KIF1B):c.3528C>G (p.Ile1176Met)
NM_001365951.3(KIF1B):c.3528C>T (p.Ile1176=)
NM_001365951.3(KIF1B):c.352A>G (p.Ile118Val)
NM_001365951.3(KIF1B):c.3540T>G (p.Phe1180Leu)
NM_001365951.3(KIF1B):c.3558C>G (p.Thr1186=)
NM_001365951.3(KIF1B):c.3567T>C (p.Ile1189=)
NM_001365951.3(KIF1B):c.3576A>C (p.Glu1192Asp)
NM_001365951.3(KIF1B):c.357T>C (p.Ile119=)
NM_001365951.3(KIF1B):c.3603A>G (p.Pro1201=) rs2102322455
NM_001365951.3(KIF1B):c.3607C>A (p.His1203Asn)
NM_001365951.3(KIF1B):c.3610C>G (p.Leu1204Val)
NM_001365951.3(KIF1B):c.3615A>G (p.Gln1205=)
NM_001365951.3(KIF1B):c.3620A>G (p.Gln1207Arg)
NM_001365951.3(KIF1B):c.3628A>G (p.Asn1210Asp)
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.3644C>T (p.Pro1215Leu) rs369255811
NM_001365951.3(KIF1B):c.3645G>C (p.Pro1215=) rs147318592
NM_001365951.3(KIF1B):c.3649C>G (p.Arg1217Gly)
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His) rs1652465916
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=) rs868389032
NM_001365951.3(KIF1B):c.3655T>A (p.Phe1219Ile)
NM_001365951.3(KIF1B):c.3660C>G (p.Phe1220Leu)
NM_001365951.3(KIF1B):c.3673C>T (p.Pro1225Ser)
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.3691C>T (p.Pro1231Ser)
NM_001365951.3(KIF1B):c.3703T>C (p.Leu1235=)
NM_001365951.3(KIF1B):c.3710C>T (p.Thr1237Met)
NM_001365951.3(KIF1B):c.3712A>G (p.Met1238Val)
NM_001365951.3(KIF1B):c.3713T>C (p.Met1238Thr)
NM_001365951.3(KIF1B):c.3723C>A (p.Thr1241=)
NM_001365951.3(KIF1B):c.3738C>T (p.Ser1246=)
NM_001365951.3(KIF1B):c.3746A>G (p.Lys1249Arg)
NM_001365951.3(KIF1B):c.3760G>A (p.Val1254Ile) rs1490841470
NM_001365951.3(KIF1B):c.3764G>C (p.Trp1255Ser) rs2102326792
NM_001365951.3(KIF1B):c.3767T>G (p.Phe1256Cys)
NM_001365951.3(KIF1B):c.3776G>A (p.Ser1259Asn) rs756530731
NM_001365951.3(KIF1B):c.3785A>G (p.Glu1262Gly)
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.3798-3T>C
NM_001365951.3(KIF1B):c.3804C>T (p.Ile1268=)
NM_001365951.3(KIF1B):c.3812T>C (p.Val1271Ala) rs756516917
NM_001365951.3(KIF1B):c.3813G>A (p.Val1271=)
NM_001365951.3(KIF1B):c.3815T>C (p.Val1272Ala)
NM_001365951.3(KIF1B):c.3825A>G (p.Thr1275=) rs754717048
NM_001365951.3(KIF1B):c.3834G>T (p.Leu1278Phe)
NM_001365951.3(KIF1B):c.3836C>T (p.Pro1279Leu)
NM_001365951.3(KIF1B):c.3846G>A (p.Gly1282=)
NM_001365951.3(KIF1B):c.3848C>A (p.Thr1283Lys)
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.3864+20del
NM_001365951.3(KIF1B):c.3864+4C>T
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.3886G>C (p.Val1296Leu)
NM_001365951.3(KIF1B):c.3890C>T (p.Thr1297Ile)
NM_001365951.3(KIF1B):c.3891C>T (p.Thr1297=)
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001365951.3(KIF1B):c.3893T>C (p.Ile1298Thr)
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.3913G>A (p.Glu1305Lys)
NM_001365951.3(KIF1B):c.3916C>T (p.Leu1306Phe)
NM_001365951.3(KIF1B):c.3921T>C (p.His1307=)
NM_001365951.3(KIF1B):c.3927A>C (p.Lys1309Asn)
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.3958C>T (p.Arg1320Trp)
NM_001365951.3(KIF1B):c.3968C>T (p.Pro1323Leu) rs1279580508
NM_001365951.3(KIF1B):c.3977A>T (p.Asp1326Val) rs879368394
NM_001365951.3(KIF1B):c.3987A>G (p.Ala1329=)
NM_001365951.3(KIF1B):c.399C>G (p.Asn133Lys) rs996589396
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)
NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)
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.4046A>C (p.Asn1349Thr) rs1462863753
NM_001365951.3(KIF1B):c.4052G>C (p.Ser1351Thr)
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.4056G>A (p.Arg1352=)
NM_001365951.3(KIF1B):c.4060T>C (p.Phe1354Leu)
NM_001365951.3(KIF1B):c.4060T>G (p.Phe1354Val)
NM_001365951.3(KIF1B):c.4064A>G (p.Tyr1355Cys)
NM_001365951.3(KIF1B):c.4066C>T (p.Arg1356Cys) rs1231187230
NM_001365951.3(KIF1B):c.4067G>T (p.Arg1356Leu)
NM_001365951.3(KIF1B):c.4074G>A (p.Glu1358=) rs1291020748
NM_001365951.3(KIF1B):c.4076C>T (p.Ala1359Val)
NM_001365951.3(KIF1B):c.4094T>C (p.Leu1365Pro)
NM_001365951.3(KIF1B):c.4106T>G (p.Leu1369Arg) rs1339145498
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.4139A>T (p.Lys1380Met)
NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)
NM_001365951.3(KIF1B):c.4146C>T (p.Tyr1382=)
NM_001365951.3(KIF1B):c.4149G>A (p.Met1383Ile)
NM_001365951.3(KIF1B):c.4151C>T (p.Thr1384Ile)
NM_001365951.3(KIF1B):c.4152C>G (p.Thr1384=) rs1638408043
NM_001365951.3(KIF1B):c.415T>G (p.Ser139Ala)
NM_001365951.3(KIF1B):c.4163A>G (p.Tyr1388Cys)
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.4186C>A (p.Gln1396Lys)
NM_001365951.3(KIF1B):c.4194T>A (p.Ala1398=) rs765279950
NM_001365951.3(KIF1B):c.4196T>C (p.Val1399Ala) rs147043919
NM_001365951.3(KIF1B):c.4210G>A (p.Val1404Met) rs1557737152
NM_001365951.3(KIF1B):c.4216A>C (p.Met1406Leu)
NM_001365951.3(KIF1B):c.4221C>A (p.Val1407=)
NM_001365951.3(KIF1B):c.4225T>C (p.Tyr1409His)
NM_001365951.3(KIF1B):c.422C>G (p.Ser141Cys) rs2102194265
NM_001365951.3(KIF1B):c.4231C>A (p.Arg1411=)
NM_001365951.3(KIF1B):c.4237G>A (p.Ala1413Thr) rs1553170117
NM_001365951.3(KIF1B):c.4255C>T (p.Arg1419Cys)
NM_001365951.3(KIF1B):c.4263G>C (p.Leu1421=) rs2102345665
NM_001365951.3(KIF1B):c.4264C>T (p.Arg1422Cys)
NM_001365951.3(KIF1B):c.4278C>T (p.Gly1426=)
NM_001365951.3(KIF1B):c.4280G>C (p.Ser1427Thr) rs755113137
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.4298_4299delinsGG (p.Pro1433Arg)
NM_001365951.3(KIF1B):c.430-13A>T
NM_001365951.3(KIF1B):c.430-15C>G
NM_001365951.3(KIF1B):c.430-5C>T
NM_001365951.3(KIF1B):c.430-9del rs771477893
NM_001365951.3(KIF1B):c.4304+10del
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.4305-2A>T
NM_001365951.3(KIF1B):c.4310G>A (p.Arg1437Gln)
NM_001365951.3(KIF1B):c.4326C>T (p.Tyr1442=)
NM_001365951.3(KIF1B):c.4335C>T (p.Ser1445=)
NM_001365951.3(KIF1B):c.4338A>C (p.Leu1446Phe) rs143112560
NM_001365951.3(KIF1B):c.4347G>A (p.Met1449Ile) rs1638475945
NM_001365951.3(KIF1B):c.4366+17T>G
NM_001365951.3(KIF1B):c.4366+4A>T
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.4388A>G (p.Lys1463Arg)
NM_001365951.3(KIF1B):c.4390A>G (p.Ile1464Val)
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.4405G>A (p.Val1469Met) rs1638531827
NM_001365951.3(KIF1B):c.4413T>C (p.Tyr1471=) rs2102349869
NM_001365951.3(KIF1B):c.4416G>A (p.Val1472=)
NM_001365951.3(KIF1B):c.4418G>A (p.Arg1473Gln)
NM_001365951.3(KIF1B):c.4418G>T (p.Arg1473Leu)
NM_001365951.3(KIF1B):c.4421G>C (p.Gly1474Ala)
NM_001365951.3(KIF1B):c.4428G>A (p.Glu1476=)
NM_001365951.3(KIF1B):c.4449C>G (p.Pro1483=) rs2102349912
NM_001365951.3(KIF1B):c.4451G>A (p.Arg1484His)
NM_001365951.3(KIF1B):c.4457A>G (p.Asp1486Gly) rs2102349923
NM_001365951.3(KIF1B):c.4466T>C (p.Ile1489Thr) rs1638533756
NM_001365951.3(KIF1B):c.4479G>A (p.Gln1493=) rs1638533963
NM_001365951.3(KIF1B):c.4501C>G (p.Leu1501Val)
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.4548G>T (p.Glu1516Asp)
NM_001365951.3(KIF1B):c.4551A>T (p.Arg1517Ser)
NM_001365951.3(KIF1B):c.4560C>T (p.Asp1520=)
NM_001365951.3(KIF1B):c.4574_4575delinsAT (p.Ser1525Tyr) rs1638543931
NM_001365951.3(KIF1B):c.4581C>T (p.Ser1527=)
NM_001365951.3(KIF1B):c.4586C>G (p.Ser1529Trp)
NM_001365951.3(KIF1B):c.4586C>T (p.Ser1529Leu) rs781051649
NM_001365951.3(KIF1B):c.4587G>A (p.Ser1529=)
NM_001365951.3(KIF1B):c.4611G>A (p.Gly1537=)
NM_001365951.3(KIF1B):c.4615C>T (p.Leu1539Phe)
NM_001365951.3(KIF1B):c.4623C>T (p.Thr1541=) rs1415477397
NM_001365951.3(KIF1B):c.4627A>G (p.Thr1543Ala) rs1638546150
NM_001365951.3(KIF1B):c.4644G>A (p.Gln1548=)
NM_001365951.3(KIF1B):c.4644G>T (p.Gln1548His) rs199611419
NM_001365951.3(KIF1B):c.4647C>T (p.Ile1549=)
NM_001365951.3(KIF1B):c.4651A>G (p.Thr1551Ala)
NM_001365951.3(KIF1B):c.4653C>T (p.Thr1551=)
NM_001365951.3(KIF1B):c.4657A>C (p.Thr1553Pro)
NM_001365951.3(KIF1B):c.4678C>T (p.Pro1560Ser)
NM_001365951.3(KIF1B):c.4680T>C (p.Pro1560=)
NM_001365951.3(KIF1B):c.4692T>C (p.Ser1564=) rs2102350508
NM_001365951.3(KIF1B):c.4700A>T (p.Asp1567Val)
NM_001365951.3(KIF1B):c.4713C>T (p.Ile1571=) rs750386624
NM_001365951.3(KIF1B):c.4714G>A (p.Glu1572Lys)
NM_001365951.3(KIF1B):c.4723G>A (p.Val1575Met) rs756027011
NM_001365951.3(KIF1B):c.4738G>C (p.Glu1580Gln)
NM_001365951.3(KIF1B):c.474G>T (p.Leu158=) rs1648529329
NM_001365951.3(KIF1B):c.4751A>C (p.Lys1584Thr)
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.4753-3T>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.4779C>A (p.Phe1593Leu)
NM_001365951.3(KIF1B):c.4782C>G (p.Asn1594Lys)
NM_001365951.3(KIF1B):c.4793G>C (p.Ser1598Thr)
NM_001365951.3(KIF1B):c.4799T>G (p.Val1600Gly)
NM_001365951.3(KIF1B):c.4804G>T (p.Gly1602Cys)
NM_001365951.3(KIF1B):c.4808G>A (p.Ser1603Asn)
NM_001365951.3(KIF1B):c.4809C>T (p.Ser1603=)
NM_001365951.3(KIF1B):c.4813A>G (p.Ser1605Gly)
NM_001365951.3(KIF1B):c.4814G>A (p.Ser1605Asn) rs978846620
NM_001365951.3(KIF1B):c.4816G>C (p.Asp1606His) rs780601677
NM_001365951.3(KIF1B):c.4824+16_4824+17del rs764397992
NM_001365951.3(KIF1B):c.4824+3G>A rs1638638432
NM_001365951.3(KIF1B):c.4824+9A>G
NM_001365951.3(KIF1B):c.4825-13G>A
NM_001365951.3(KIF1B):c.4825-14C>T
NM_001365951.3(KIF1B):c.4834A>C (p.Ile1612Leu)
NM_001365951.3(KIF1B):c.4847G>A (p.Gly1616Glu) rs2102358105
NM_001365951.3(KIF1B):c.4858T>C (p.Ser1620Pro)
NM_001365951.3(KIF1B):c.4864T>C (p.Ser1622Pro)
NM_001365951.3(KIF1B):c.4865C>G (p.Ser1622Cys)
NM_001365951.3(KIF1B):c.488A>G (p.Lys163Arg)
NM_001365951.3(KIF1B):c.4895C>T (p.Ser1632Phe)
NM_001365951.3(KIF1B):c.4896C>T (p.Ser1632=)
NM_001365951.3(KIF1B):c.4899C>G (p.Ser1633=)
NM_001365951.3(KIF1B):c.4900A>G (p.Thr1634Ala)
NM_001365951.3(KIF1B):c.4904G>T (p.Cys1635Phe) rs142714491
NM_001365951.3(KIF1B):c.4915G>A (p.Val1639Ile)
NM_001365951.3(KIF1B):c.4920C>T (p.Asp1640=)
NM_001365951.3(KIF1B):c.4928G>A (p.Ser1643Asn)
NM_001365951.3(KIF1B):c.4928G>T (p.Ser1643Ile) rs2102358222
NM_001365951.3(KIF1B):c.4931A>G (p.Asn1644Ser)
NM_001365951.3(KIF1B):c.4934C>G (p.Ser1645Cys)
NM_001365951.3(KIF1B):c.4939G>A (p.Asp1647Asn) rs2102358247
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.4952C>G (p.Pro1651Arg)
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=) rs778240671
NM_001365951.3(KIF1B):c.4979C>T (p.Pro1660Leu)
NM_001365951.3(KIF1B):c.4988A>C (p.Glu1663Ala) rs1638827878
NM_001365951.3(KIF1B):c.498G>A (p.Leu166=)
NM_001365951.3(KIF1B):c.4999T>C (p.Phe1667Leu)
NM_001365951.3(KIF1B):c.4999T>G (p.Phe1667Val)
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)
NM_001365951.3(KIF1B):c.500G>A (p.Arg167His) rs2102205265
NM_001365951.3(KIF1B):c.5013A>T (p.Pro1671=)
NM_001365951.3(KIF1B):c.5022A>G (p.Glu1674=)
NM_001365951.3(KIF1B):c.5024C>T (p.Thr1675Ile)
NM_001365951.3(KIF1B):c.5052C>T (p.Asn1684=)
NM_001365951.3(KIF1B):c.5079T>G (p.Ile1693Met) rs752044197
NM_001365951.3(KIF1B):c.5080G>A (p.Glu1694Lys)
NM_001365951.3(KIF1B):c.5081A>C (p.Glu1694Ala)
NM_001365951.3(KIF1B):c.5092C>G (p.Pro1698Ala)
NM_001365951.3(KIF1B):c.5093C>G (p.Pro1698Arg)
NM_001365951.3(KIF1B):c.5095A>G (p.Ser1699Gly)
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.5099C>T (p.Ser1700Leu)
NM_001365951.3(KIF1B):c.5104G>A (p.Val1702Ile)
NM_001365951.3(KIF1B):c.5118A>G (p.Gly1706=)
NM_001365951.3(KIF1B):c.5130C>T (p.Phe1710=)
NM_001365951.3(KIF1B):c.5137C>G (p.Pro1713Ala) rs755893509
NM_001365951.3(KIF1B):c.513C>T (p.His171=)
NM_001365951.3(KIF1B):c.5145C>T (p.Tyr1715=)
NM_001365951.3(KIF1B):c.514C>A (p.Pro172Thr)
NM_001365951.3(KIF1B):c.5156C>T (p.Ala1719Val) rs2102363299
NM_001365951.3(KIF1B):c.5172C>T (p.Val1724=)
NM_001365951.3(KIF1B):c.5176C>G (p.Arg1726Gly)
NM_001365951.3(KIF1B):c.5185T>C (p.Tyr1729His)
NM_001365951.3(KIF1B):c.5189T>C (p.Val1730Ala)
NM_001365951.3(KIF1B):c.5192T>C (p.Phe1731Ser)
NM_001365951.3(KIF1B):c.5198A>G (p.Tyr1733Cys)
NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu) rs749483779
NM_001365951.3(KIF1B):c.520C>T (p.Leu174Phe) rs1648530496
NM_001365951.3(KIF1B):c.5210A>G (p.Lys1737Arg)
NM_001365951.3(KIF1B):c.5223G>A (p.Glu1741=)
NM_001365951.3(KIF1B):c.5227G>A (p.Gly1743Arg)
NM_001365951.3(KIF1B):c.5235T>C (p.Ile1745=)
NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His) rs556099463
NM_001365951.3(KIF1B):c.5238C>A (p.Asn1746Lys)
NM_001365951.3(KIF1B):c.5251C>T (p.Gln1751Ter) rs2102363451
NM_001365951.3(KIF1B):c.5260T>G (p.Tyr1754Asp) rs1361142669
NM_001365951.3(KIF1B):c.5277G>A (p.Gln1759=)
NM_001365951.3(KIF1B):c.5277G>C (p.Gln1759His)
NM_001365951.3(KIF1B):c.5278G>A (p.Ala1760Thr)
NM_001365951.3(KIF1B):c.5284G>A (p.Val1762Met)
NM_001365951.3(KIF1B):c.5286G>A (p.Val1762=)
NM_001365951.3(KIF1B):c.5289+4C>T
NM_001365951.3(KIF1B):c.5290-3C>T
NM_001365951.3(KIF1B):c.5293C>G (p.Pro1765Ala)
NM_001365951.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs1638850153
NM_001365951.3(KIF1B):c.5301C>G (p.Thr1767=)
NM_001365951.3(KIF1B):c.5303T>G (p.Phe1768Cys)
NM_001365951.3(KIF1B):c.5313C>T (p.Cys1771=)
NM_001365951.3(KIF1B):c.5315C>G (p.Thr1772Arg)
NM_001365951.3(KIF1B):c.5322C>G (p.His1774Gln) rs1638851135
NM_001365951.3(KIF1B):c.5324G>T (p.Arg1775Leu)
NM_001365951.3(KIF1B):c.5356G>A (p.Asp1786Asn)
NM_001365951.3(KIF1B):c.5373G>A (p.Leu1791=)
NM_001365951.3(KIF1B):c.5386C>A (p.Pro1796Thr)
NM_001365951.3(KIF1B):c.5388A>C (p.Pro1796=)
NM_001365951.3(KIF1B):c.5397T>G (p.Ala1799=)
NM_001365951.3(KIF1B):c.5398G>A (p.Gly1800Ser)
NM_001365951.3(KIF1B):c.5408+11TTG[4] rs371033478
NM_001365951.3(KIF1B):c.5408+11TTG[5] 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.5408+6A>C
NM_001365951.3(KIF1B):c.5408G>A (p.Arg1803Gln)
NM_001365951.3(KIF1B):c.5409-12T>G
NM_001365951.3(KIF1B):c.5409-16del rs2102365749
NM_001365951.3(KIF1B):c.5431C>A (p.Pro1811Thr)
NM_001365951.3(KIF1B):c.543G>C (p.Leu181=)
NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu) rs761319935
NM_001365951.3(KIF1B):c.546C>T (p.Ser182=)
NM_001365951.3(KIF1B):c.549G>A (p.Lys183=)
NM_001365951.3(KIF1B):c.551T>C (p.Leu184Ser)
NM_001365951.3(KIF1B):c.554C>T (p.Ala185Val)
NM_001365951.3(KIF1B):c.560C>G (p.Thr187Ser)
NM_001365951.3(KIF1B):c.560C>T (p.Thr187Ile)
NM_001365951.3(KIF1B):c.566A>G (p.Tyr189Cys)
NM_001365951.3(KIF1B):c.567C>T (p.Tyr189=) rs748370435
NM_001365951.3(KIF1B):c.586A>G (p.Met196Val) rs2102205493
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) rs766873320
NM_001365951.3(KIF1B):c.608+3A>G
NM_001365951.3(KIF1B):c.609-6A>G rs1276227203
NM_001365951.3(KIF1B):c.609-8T>A rs2102206798
NM_001365951.3(KIF1B):c.655G>T (p.Ala219Ser)
NM_001365951.3(KIF1B):c.662T>G (p.Phe221Cys) rs1648577899
NM_001365951.3(KIF1B):c.665C>T (p.Thr222Met) rs2102206895
NM_001365951.3(KIF1B):c.667A>G (p.Ile223Val)
NM_001365951.3(KIF1B):c.687A>G (p.Lys229=)
NM_001365951.3(KIF1B):c.691G>T (p.Asp231Tyr) rs760067826
NM_001365951.3(KIF1B):c.692A>G (p.Asp231Gly)
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)
NM_001365951.3(KIF1B):c.704A>G (p.Asn235Ser)
NM_001365951.3(KIF1B):c.707T>A (p.Leu236His)
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) rs775958513
NM_001365951.3(KIF1B):c.715G>A (p.Glu239Lys)
NM_001365951.3(KIF1B):c.71C>G (p.Ser24Cys)
NM_001365951.3(KIF1B):c.720+17C>A
NM_001365951.3(KIF1B):c.720+5G>C
NM_001365951.3(KIF1B):c.730A>G (p.Ile244Val)
NM_001365951.3(KIF1B):c.731T>C (p.Ile244Thr) rs2102213204
NM_001365951.3(KIF1B):c.741G>A (p.Val247=)
NM_001365951.3(KIF1B):c.750A>C (p.Ala250=) rs2102213217
NM_001365951.3(KIF1B):c.776G>A (p.Gly259Asp) rs767229413
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.798+5T>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.79A>G (p.Ile27Val)
NM_001365951.3(KIF1B):c.805G>A (p.Ala269Thr)
NM_001365951.3(KIF1B):c.817A>T (p.Lys273Ter)
NM_001365951.3(KIF1B):c.82A>C (p.Ile28Leu) rs1646994908
NM_001365951.3(KIF1B):c.833T>G (p.Leu278Trp) rs1648841810
NM_001365951.3(KIF1B):c.834G>A (p.Leu278=)
NM_001365951.3(KIF1B):c.85C>T (p.Gln29Ter)
NM_001365951.3(KIF1B):c.861G>C (p.Glu287Asp)
NM_001365951.3(KIF1B):c.864+13C>T
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His) rs2102129325
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.887A>G (p.Lys296Arg)
NM_001365951.3(KIF1B):c.891GAA[2] (p.Lys300del) rs1180929845
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.955T>A (p.Leu319Ile)
NM_001365951.3(KIF1B):c.958+5G>A
NM_001365951.3(KIF1B):c.959-10A>G
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.965A>G (p.Asn322Ser) rs2102222233
NM_001365951.3(KIF1B):c.978A>G (p.Ala326=) rs1011233723
NM_001365951.3(KIF1B):c.979A>G (p.Met327Val)
NM_001365951.3(KIF1B):c.985G>A (p.Ala329Thr) rs2102222288
NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)
NM_001365951.3(KIF1B):c.993G>A (p.Leu331=) rs2102222302
NM_001605.3(AARS1):c.1002del (p.Arg333_Tyr334insTer)
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr) rs756594937
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys) rs2152160733
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
NM_001605.3(AARS1):c.1012A>G (p.Lys338Glu) rs1960315664
NM_001605.3(AARS1):c.1026C>G (p.Ser342Arg)
NM_001605.3(AARS1):c.1027A>G (p.Arg343Gly) rs1960315228
NM_001605.3(AARS1):c.1029G>T (p.Arg343Ser)
NM_001605.3(AARS1):c.1032del (p.Phe345fs)
NM_001605.3(AARS1):c.1033T>A (p.Phe345Ile)
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu) rs765790521
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala) rs1483525127
NM_001605.3(AARS1):c.1044G>A (p.Thr348=) rs181264712
NM_001605.3(AARS1):c.1049T>C (p.Val350Ala)
NM_001605.3(AARS1):c.104A>T (p.Asp35Val)
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
NM_001605.3(AARS1):c.1055T>G (p.Val352Gly) rs1597441040
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
NM_001605.3(AARS1):c.1060G>T (p.Val354Phe) rs762395098
NM_001605.3(AARS1):c.1065G>T (p.Gln355His) rs1960314004
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.1071+1G>A rs2152160643
NM_001605.3(AARS1):c.1071+5G>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.1072-3C>G
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)
NM_001605.3(AARS1):c.1074A>T (p.Gly358=) rs1555541137
NM_001605.3(AARS1):c.1076A>C (p.Asp359Ala)
NM_001605.3(AARS1):c.1076A>G (p.Asp359Gly) rs1960298879
NM_001605.3(AARS1):c.1078G>C (p.Ala360Pro) rs761669458
NM_001605.3(AARS1):c.1082T>G (p.Phe361Cys) rs2152160274
NM_001605.3(AARS1):c.1083T>C (p.Phe361=) rs2152160273
NM_001605.3(AARS1):c.1084C>T (p.Pro362Ser)
NM_001605.3(AARS1):c.1085C>G (p.Pro362Arg)
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
NM_001605.3(AARS1):c.109C>T (p.Pro37Ser) rs1005079274
NM_001605.3(AARS1):c.10A>G (p.Thr4Ala)
NM_001605.3(AARS1):c.1106A>T (p.Asp369Val) rs2152160238
NM_001605.3(AARS1):c.110C>T (p.Pro37Leu)
NM_001605.3(AARS1):c.1114A>G (p.Lys372Glu)
NM_001605.3(AARS1):c.111dup (p.Thr38fs) rs1597448762
NM_001605.3(AARS1):c.1122C>T (p.Ile374=) rs752057589
NM_001605.3(AARS1):c.1123A>G (p.Ile375Val)
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
NM_001605.3(AARS1):c.1127A>G (p.Asn376Ser)
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys) rs2152160216
NM_001605.3(AARS1):c.112A>T (p.Thr38Ser)
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile) rs761574997
NM_001605.3(AARS1):c.1140_1141delinsAT (p.Gln381Ter)
NM_001605.3(AARS1):c.1143G>A (p.Gln381=) rs778064460
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln) rs1597440683
NM_001605.3(AARS1):c.1154C>T (p.Thr385Ile)
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
NM_001605.3(AARS1):c.1167G>T (p.Gly389=) rs1960296503
NM_001605.3(AARS1):c.1169G>A (p.Arg390His) rs1465496890
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) rs147580372
NM_001605.3(AARS1):c.1172G>A (p.Arg391His)
NM_001605.3(AARS1):c.1174A>G (p.Ile392Val)
NM_001605.3(AARS1):c.1178T>A (p.Leu393Gln)
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
NM_001605.3(AARS1):c.1180G>T (p.Asp394Tyr) rs2152160177
NM_001605.3(AARS1):c.1184G>A (p.Arg395Lys)
NM_001605.3(AARS1):c.118C>T (p.Leu40Phe) rs1350361999
NM_001605.3(AARS1):c.1191T>G (p.Ile397Met) rs2152160165
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
NM_001605.3(AARS1):c.1196G>A (p.Ser399Asn)
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile) rs1335517508
NM_001605.3(AARS1):c.11_15del (p.Thr4fs) rs1211684571
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)
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.1216A>T (p.Ile406Phe)
NM_001605.3(AARS1):c.1222+16del rs748889882
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+5_1222+7delinsTTTTTGC rs1960294143
NM_001605.3(AARS1):c.1222+7A>G rs200591546
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1222G>C (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1222G>T (p.Gly408Ter) rs369135192
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.1243T>A (p.Tyr415Asn)
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)
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.1274C>G (p.Thr425Ser)
NM_001605.3(AARS1):c.1275_1276del (p.Gly426fs) rs1555540896
NM_001605.3(AARS1):c.127A>G (p.Asn43Asp)
NM_001605.3(AARS1):c.1282A>T (p.Ile428Phe)
NM_001605.3(AARS1):c.1283T>G (p.Ile428Ser)
NM_001605.3(AARS1):c.1294A>C (p.Lys432Gln)
NM_001605.3(AARS1):c.1295A>G (p.Lys432Arg)
NM_001605.3(AARS1):c.1297G>A (p.Gly433Ser)
NM_001605.3(AARS1):c.1298G>C (p.Gly433Ala)
NM_001605.3(AARS1):c.1298G>T (p.Gly433Val)
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
NM_001605.3(AARS1):c.129T>C (p.Asn43=)
NM_001605.3(AARS1):c.1301T>A (p.Leu434Gln) rs1960243047
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)
NM_001605.3(AARS1):c.1330G>T (p.Glu444Ter)
NM_001605.3(AARS1):c.1334G>C (p.Arg445Thr)
NM_001605.3(AARS1):c.133G>A (p.Gly45Ser) rs1960729134
NM_001605.3(AARS1):c.133G>C (p.Gly45Arg)
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.1348C>G (p.Leu450Val) rs767096851
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)
NM_001605.3(AARS1):c.1355C>T (p.Ser452Leu)
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)
NM_001605.3(AARS1):c.1370C>T (p.Ala457Val)
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
NM_001605.3(AARS1):c.137T>A (p.Met46Lys)
NM_001605.3(AARS1):c.137T>C (p.Met46Thr)
NM_001605.3(AARS1):c.1382A>G (p.Asp461Gly)
NM_001605.3(AARS1):c.1382A>T (p.Asp461Val) rs1195150104
NM_001605.3(AARS1):c.1393C>A (p.Leu465Met)
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val) rs1555540828
NM_001605.3(AARS1):c.1396G>A (p.Asp466Asn)
NM_001605.3(AARS1):c.13C>G (p.Leu5Val)
NM_001605.3(AARS1):c.1406C>T (p.Ala469Val) rs1482868893
NM_001605.3(AARS1):c.1408A>T (p.Ile470Phe) rs879254145
NM_001605.3(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.3(AARS1):c.1410C>G (p.Ile470Met) rs79785372
NM_001605.3(AARS1):c.1411G>A (p.Glu471Lys)
NM_001605.3(AARS1):c.1417C>T (p.Leu473Phe)
NM_001605.3(AARS1):c.1427G>A (p.Arg476Gln) rs755833227
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.1439T>C (p.Val480Ala)
NM_001605.3(AARS1):c.144+12del
NM_001605.3(AARS1):c.144+12dup
NM_001605.3(AARS1):c.144+14C>T rs757604499
NM_001605.3(AARS1):c.144+19T>C
NM_001605.3(AARS1):c.144+4A>G
NM_001605.3(AARS1):c.144+6G>T
NM_001605.3(AARS1):c.144+7G>A
NM_001605.3(AARS1):c.144+8T>C
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)
NM_001605.3(AARS1):c.1444G>C (p.Asp482His) rs763513667
NM_001605.3(AARS1):c.144G>C (p.Gln48His)
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.145-3T>C rs1006628756
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=) rs1410121757
NM_001605.3(AARS1):c.1463A>G (p.Asn488Ser)
NM_001605.3(AARS1):c.1463A>T (p.Asn488Ile)
NM_001605.3(AARS1):c.1466A>G (p.Tyr489Cys)
NM_001605.3(AARS1):c.1468C>T (p.His490Tyr)
NM_001605.3(AARS1):c.1469A>G (p.His490Arg)
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
NM_001605.3(AARS1):c.147T>G (p.Phe49Leu)
NM_001605.3(AARS1):c.1484G>A (p.Gly495Asp)
NM_001605.3(AARS1):c.1488C>T (p.Ser496=) rs1057048498
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)
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+3A>T
NM_001605.3(AARS1):c.1492+5G>A rs2152158281
NM_001605.3(AARS1):c.1492+7T>C
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu) rs1960227997
NM_001605.3(AARS1):c.1493-15A>G
NM_001605.3(AARS1):c.1493-19A>G
NM_001605.3(AARS1):c.1493-2A>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.1496T>G (p.Phe499Cys)
NM_001605.3(AARS1):c.1499A>G (p.Glu500Gly)
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)
NM_001605.3(AARS1):c.1515G>A (p.Thr505=) rs1057518288
NM_001605.3(AARS1):c.1517T>A (p.Val506Glu)
NM_001605.3(AARS1):c.1519A>G (p.Met507Val) rs1064797212
NM_001605.3(AARS1):c.1523C>G (p.Ala508Gly)
NM_001605.3(AARS1):c.1525C>G (p.Leu509Val) rs761096936
NM_001605.3(AARS1):c.1529G>T (p.Arg510Leu)
NM_001605.3(AARS1):c.1534G>A (p.Glu512Lys)
NM_001605.3(AARS1):c.1534G>C (p.Glu512Gln)
NM_001605.3(AARS1):c.1535AGA[1] (p.Lys513del) rs762162379
NM_001605.3(AARS1):c.1537A>G (p.Lys513Glu)
NM_001605.3(AARS1):c.1538A>C (p.Lys513Thr) rs2152156683
NM_001605.3(AARS1):c.1538A>G (p.Lys513Arg)
NM_001605.3(AARS1):c.1538A>T (p.Lys513Met)
NM_001605.3(AARS1):c.1539G>T (p.Lys513Asn)
NM_001605.3(AARS1):c.153C>T (p.Pro51=) rs1191170313
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu) rs200578293
NM_001605.3(AARS1):c.1545C>G (p.Phe515Leu)
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
NM_001605.3(AARS1):c.1546G>A (p.Val516Met) rs143844046
NM_001605.3(AARS1):c.1551A>G (p.Glu517=) rs1597437798
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
NM_001605.3(AARS1):c.1562C>T (p.Thr521Ile)
NM_001605.3(AARS1):c.1563A>G (p.Thr521=) rs1273011840
NM_001605.3(AARS1):c.1567C>T (p.Gln523Ter)
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)
NM_001605.3(AARS1):c.1596C>T (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1600_1603del (p.Phe534fs)
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser) rs1179099210
NM_001605.3(AARS1):c.1612C>A (p.Gln538Lys)
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)
NM_001605.3(AARS1):c.1618_1619dup (p.Gln541fs) rs1567604571
NM_001605.3(AARS1):c.1622A>G (p.Gln541Arg)
NM_001605.3(AARS1):c.1628A>G (p.Tyr543Cys)
NM_001605.3(AARS1):c.162G>A (p.Leu54=) rs2152167067
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys) rs1328218106
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
NM_001605.3(AARS1):c.1649A>C (p.Lys550Thr)
NM_001605.3(AARS1):c.1651G>A (p.Val551Met) rs1060503691
NM_001605.3(AARS1):c.1654G>T (p.Asp552Tyr)
NM_001605.3(AARS1):c.1657G>A (p.Asp553Asn)
NM_001605.3(AARS1):c.1658A>G (p.Asp553Gly)
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.1676C>T (p.Thr559Ile) rs1960123149
NM_001605.3(AARS1):c.1679_1680del (p.Glu560fs) rs1438690757
NM_001605.3(AARS1):c.1680G>C (p.Glu560Asp) rs863224707
NM_001605.3(AARS1):c.1687G>A (p.Val563Met)
NM_001605.3(AARS1):c.1699C>G (p.Gln567Glu)
NM_001605.3(AARS1):c.1703T>C (p.Val568Ala)
NM_001605.3(AARS1):c.1705C>T (p.Arg569Ter)
NM_001605.3(AARS1):c.1706G>A (p.Arg569Gln)
NM_001605.3(AARS1):c.1709G>T (p.Gly570Val)
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly) rs1167508772
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
NM_001605.3(AARS1):c.1728T>G (p.Ile576Met)
NM_001605.3(AARS1):c.1735A>G (p.Ile579Val) rs1960121476
NM_001605.3(AARS1):c.1735A>T (p.Ile579Phe) rs1960121476
NM_001605.3(AARS1):c.1736T>C (p.Ile579Thr)
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met) rs144323646
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
NM_001605.3(AARS1):c.1757G>A (p.Gly586Glu)
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln) rs1337985053
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)
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.1785+4A>G rs2152155700
NM_001605.3(AARS1):c.1785+5G>T
NM_001605.3(AARS1):c.1785G>A (p.Glu595=) rs1462458743
NM_001605.3(AARS1):c.1786-17C>A
NM_001605.3(AARS1):c.1786-3C>T
NM_001605.3(AARS1):c.1786-7T>C rs2152154564
NM_001605.3(AARS1):c.1790G>T (p.Arg597Leu) rs777597230
NM_001605.3(AARS1):c.1792C>T (p.Arg598Ter) rs752548366
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
NM_001605.3(AARS1):c.1797A>T (p.Arg599Ser) rs753398944
NM_001605.3(AARS1):c.1799C>A (p.Pro600His) rs1355373452
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)
NM_001605.3(AARS1):c.1813del (p.His605fs)
NM_001605.3(AARS1):c.1819G>A (p.Ala607Thr) rs377247120
NM_001605.3(AARS1):c.1819G>C (p.Ala607Pro)
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)
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.1828A>G (p.Ile610Val)
NM_001605.3(AARS1):c.182A>G (p.His61Arg)
NM_001605.3(AARS1):c.1836C>T (p.Asn612=) rs1555540045
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr) rs779066703
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)
NM_001605.3(AARS1):c.1854G>A (p.Val618=) rs2152154469
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)
NM_001605.3(AARS1):c.1860G>C (p.Gly620=) rs2152154460
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)
NM_001605.3(AARS1):c.1864G>C (p.Ala622Pro)
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala) rs2152154443
NM_001605.3(AARS1):c.1877del (p.Gly626fs)
NM_001605.3(AARS1):c.1886T>C (p.Val629Ala)
NM_001605.3(AARS1):c.188T>A (p.Met63Lys)
NM_001605.3(AARS1):c.188T>C (p.Met63Thr)
NM_001605.3(AARS1):c.1898G>A (p.Arg633His)
NM_001605.3(AARS1):c.1902C>T (p.Leu634=) rs2152154407
NM_001605.3(AARS1):c.1904G>C (p.Arg635Thr)
NM_001605.3(AARS1):c.1905A>G (p.Arg635=) rs2152154405
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile) rs1960068620
NM_001605.3(AARS1):c.1912T>G (p.Phe638Val)
NM_001605.3(AARS1):c.1915A>T (p.Thr639Ser)
NM_001605.3(AARS1):c.1916C>T (p.Thr639Ile)
NM_001605.3(AARS1):c.1921A>G (p.Lys641Glu) rs1960068371
NM_001605.3(AARS1):c.1922A>G (p.Lys641Arg)
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
NM_001605.3(AARS1):c.1939del (p.Gln647fs)
NM_001605.3(AARS1):c.1947C>G (p.Ile649Met)
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln) rs573789791
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn) rs771099188
NM_001605.3(AARS1):c.1954G>T (p.Ala652Ser)
NM_001605.3(AARS1):c.1956T>G (p.Ala652=) rs1194294732
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
NM_001605.3(AARS1):c.1967delinsAGGTGATTGAGG (p.Ala656fs) rs1597435790
NM_001605.3(AARS1):c.1970A>T (p.Asn657Ile)
NM_001605.3(AARS1):c.1971T>A (p.Asn657Lys)
NM_001605.3(AARS1):c.1975A>G (p.Met659Val) rs2152154324
NM_001605.3(AARS1):c.1979T>C (p.Ile660Thr) rs755780106
NM_001605.3(AARS1):c.1981G>A (p.Glu661Lys)
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu) rs2152154318
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+1G>A rs1960065852
NM_001605.3(AARS1):c.1992+5G>A rs1064796467
NM_001605.3(AARS1):c.1992+6A>G
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.1993-4G>A rs528932248
NM_001605.3(AARS1):c.1993-7C>T rs753213408
NM_001605.3(AARS1):c.1993-8T>C
NM_001605.3(AARS1):c.1993G>A (p.Ala665Thr)
NM_001605.3(AARS1):c.1994C>T (p.Ala665Val)
NM_001605.3(AARS1):c.1998_1999del (p.Thr668fs) rs1597435337
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)
NM_001605.3(AARS1):c.2000A>G (p.Tyr667Cys)
NM_001605.3(AARS1):c.2004C>T (p.Thr668=) rs1283821119
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
NM_001605.3(AARS1):c.2014C>T (p.Pro672Ser)
NM_001605.3(AARS1):c.2017del (p.Leu673fs) rs781347519
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)
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.2059G>A (p.Asp687Asn) rs1597435277
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)
NM_001605.3(AARS1):c.2064G>C (p.Glu688Asp)
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser) rs563959372
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)
NM_001605.3(AARS1):c.2070T>G (p.Tyr690Ter)
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)
NM_001605.3(AARS1):c.2082G>A (p.Val694=) rs1960037082
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile) rs368191672
NM_001605.3(AARS1):c.208G>C (p.Ala70Pro) rs1960569577
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
NM_001605.3(AARS1):c.2092T>A (p.Ser698Thr) rs374062105
NM_001605.3(AARS1):c.2092T>G (p.Ser698Ala)
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr) rs769778018
NM_001605.3(AARS1):c.2099G>T (p.Gly700Val)
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.2116T>A (p.Leu706Met)
NM_001605.3(AARS1):c.2118G>T (p.Leu706Phe)
NM_001605.3(AARS1):c.2123A>G (p.Asp708Gly)
NM_001605.3(AARS1):c.2125G>A (p.Asp709Asn) rs367806417
NM_001605.3(AARS1):c.2126A>T (p.Asp709Val)
NM_001605.3(AARS1):c.2128C>T (p.Pro710Ser)
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2130del (p.Ser711fs)
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
NM_001605.3(AARS1):c.2153C>G (p.Thr718Ser)
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)
NM_001605.3(AARS1):c.215C>A (p.Thr72Asn)
NM_001605.3(AARS1):c.215C>T (p.Thr72Ile) rs2152167036
NM_001605.3(AARS1):c.2162A>C (p.Glu721Ala)
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.2170G>A (p.Gly724Arg)
NM_001605.3(AARS1):c.2176A>C (p.Thr726Pro) rs1312337697
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala) rs1312337697
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+5G>A rs2152153454
NM_001605.3(AARS1):c.2177+6T>A
NM_001605.3(AARS1):c.2177+9T>A
NM_001605.3(AARS1):c.2177+9T>G rs2152153451
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met) rs1480620711
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.2178_2179delinsTT (p.His727Tyr) rs2152151946
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)
NM_001605.3(AARS1):c.2193G>A (p.Ser731=) rs746349849
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)
NM_001605.3(AARS1):c.2216T>C (p.Ile739Thr) rs2152151875
NM_001605.3(AARS1):c.2217C>G (p.Ile739Met) rs770980206
NM_001605.3(AARS1):c.2218G>A (p.Val740Met) rs749217453
NM_001605.3(AARS1):c.2222C>A (p.Thr741Lys) rs148383122
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
NM_001605.3(AARS1):c.2227G>A (p.Glu743Lys) rs1358716596
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.2255T>C (p.Ile752Thr)
NM_001605.3(AARS1):c.2257G>A (p.Val753Met)
NM_001605.3(AARS1):c.2259G>A (p.Val753=)
NM_001605.3(AARS1):c.225C>T (p.Cys75=) rs2152167029
NM_001605.3(AARS1):c.2260G>A (p.Ala754Thr) rs1959974421
NM_001605.3(AARS1):c.2265C>T (p.Val755=) rs1027921501
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp) rs2152151798
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)
NM_001605.3(AARS1):c.2274C>T (p.Ala758=) rs143430116
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)
NM_001605.3(AARS1):c.2286+6C>T
NM_001605.3(AARS1):c.2286+7A>G rs1597433975
NM_001605.3(AARS1):c.2286+8G>A
NM_001605.3(AARS1):c.2286+9G>A
NM_001605.3(AARS1):c.2287-10C>T
NM_001605.3(AARS1):c.2287-12G>T
NM_001605.3(AARS1):c.2287-3C>T
NM_001605.3(AARS1):c.2287-7dup
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys) rs758250941
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp) rs1597446225
NM_001605.3(AARS1):c.2307C>T (p.Ser769=) rs2152150785
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
NM_001605.3(AARS1):c.2317T>C (p.Cys773Arg)
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.2324_2325del (p.Ser775fs)
NM_001605.3(AARS1):c.2328C>T (p.Val776=) rs146969194
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.2330T>C (p.Met777Thr) rs573846062
NM_001605.3(AARS1):c.2331G>A (p.Met777Ile) rs1335792344
NM_001605.3(AARS1):c.2339A>C (p.Lys780Thr)
NM_001605.3(AARS1):c.2352G>T (p.Gln784His)
NM_001605.3(AARS1):c.2353A>G (p.Thr785Ala)
NM_001605.3(AARS1):c.2354C>G (p.Thr785Ser) rs774737730
NM_001605.3(AARS1):c.2358T>C (p.Ala786=) rs2152150749
NM_001605.3(AARS1):c.2359C>G (p.Pro787Ala)
NM_001605.3(AARS1):c.2368G>T (p.Asp790Tyr)
NM_001605.3(AARS1):c.236G>C (p.Gly79Ala) rs1960569020
NM_001605.3(AARS1):c.2371G>A (p.Val791Met)
NM_001605.3(AARS1):c.2375A>G (p.Gln792Arg) rs1959932678
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
NM_001605.3(AARS1):c.2385C>G (p.Ile795Met) rs1283711323
NM_001605.3(AARS1):c.2386G>A (p.Ala796Thr)
NM_001605.3(AARS1):c.2391C>T (p.Asp797=) rs2152150720
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)
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+5G>A
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.2400G>T (p.Glu800Asp)
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.2402C>T (p.Ala801Val)
NM_001605.3(AARS1):c.2405T>A (p.Leu802Gln) rs1959916452
NM_001605.3(AARS1):c.2411C>G (p.Thr804Ser)
NM_001605.3(AARS1):c.2414C>T (p.Ala805Val) rs865779159
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.2425C>T (p.Gln809Ter)
NM_001605.3(AARS1):c.2428T>C (p.Trp810Arg)
NM_001605.3(AARS1):c.2431C>G (p.Gln811Glu)
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg) rs1179785822
NM_001605.3(AARS1):c.2447G>C (p.Arg816Pro)
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)
NM_001605.3(AARS1):c.2449G>A (p.Glu817Lys)
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala) rs1567601050
NM_001605.3(AARS1):c.2457C>G (p.Leu819=) rs1485047907
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg) rs2152150233
NM_001605.3(AARS1):c.2475C>T (p.Val825=) rs1160997883
NM_001605.3(AARS1):c.2476A>C (p.Met826Leu)
NM_001605.3(AARS1):c.2476A>G (p.Met826Val)
NM_001605.3(AARS1):c.2477T>C (p.Met826Thr)
NM_001605.3(AARS1):c.2481T>A (p.Asp827Glu) rs1959913690
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
NM_001605.3(AARS1):c.2494G>T (p.Ala832Ser)
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val) rs2152150203
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn) rs1217292644
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)
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.2521-4_2521-3delinsAA rs1959908890
NM_001605.3(AARS1):c.2521G>A (p.Val841Met) rs1377534422
NM_001605.3(AARS1):c.2527G>C (p.Glu843Gln)
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
NM_001605.3(AARS1):c.2534C>T (p.Thr845Met) rs1959908249
NM_001605.3(AARS1):c.2538_2539delinsTT (p.Lys846_Gln847delinsAsnTer)
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)
NM_001605.3(AARS1):c.2546T>C (p.Ile849Thr)
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
NM_001605.3(AARS1):c.2552_2553delinsAA (p.Ser851Lys)
NM_001605.3(AARS1):c.2555A>G (p.Asn852Ser) rs1959907229
NM_001605.3(AARS1):c.2561A>G (p.Asn854Ser)
NM_001605.3(AARS1):c.2567C>T (p.Pro856Leu) rs1273114725
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
NM_001605.3(AARS1):c.2586G>A (p.Met862Ile)
NM_001605.3(AARS1):c.2591G>A (p.Ser864Asn)
NM_001605.3(AARS1):c.2595C>T (p.Gly865=) rs751781504
NM_001605.3(AARS1):c.2600C>T (p.Ser867Leu)
NM_001605.3(AARS1):c.2607+10G>C
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+2C>T
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.2608-16C>T rs371163247
NM_001605.3(AARS1):c.2608-17C>G rs955702969
NM_001605.3(AARS1):c.2608-18G>T
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro) rs2152149764
NM_001605.3(AARS1):c.2622C>T (p.Ala874=) rs1597432428
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro) rs2152149752
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)
NM_001605.3(AARS1):c.2636A>G (p.Lys879Arg)
NM_001605.3(AARS1):c.2638A>G (p.Met880Val)
NM_001605.3(AARS1):c.2641C>T (p.His881Tyr)
NM_001605.3(AARS1):c.2642A>G (p.His881Arg)
NM_001605.3(AARS1):c.2643C>G (p.His881Gln)
NM_001605.3(AARS1):c.2653A>G (p.Thr885Ala)
NM_001605.3(AARS1):c.2660C>T (p.Ala887Val)
NM_001605.3(AARS1):c.2664G>A (p.Met888Ile)
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
NM_001605.3(AARS1):c.2686G>T (p.Ala896Ser)
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)
NM_001605.3(AARS1):c.269A>C (p.Lys90Thr)
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.2713G>T (p.Val905Phe)
NM_001605.3(AARS1):c.2715T>A (p.Val905=) rs4081753
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)
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.2722-20dup
NM_001605.3(AARS1):c.2722-28_2740dup rs768242660
NM_001605.3(AARS1):c.2722-2A>C
NM_001605.3(AARS1):c.2722-2A>T rs1273121575
NM_001605.3(AARS1):c.2722-7C>T rs2152149455
NM_001605.3(AARS1):c.2722-9del
NM_001605.3(AARS1):c.2724T>A (p.Asn908Lys)
NM_001605.3(AARS1):c.2724T>C (p.Asn908=) rs2152149449
NM_001605.3(AARS1):c.2726C>T (p.Ala909Val)
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)
NM_001605.3(AARS1):c.2729C>G (p.Ala910Gly)
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val) rs369774476
NM_001605.3(AARS1):c.2740_2761del (p.Leu914fs)
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer) rs747345978
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg) rs2152149427
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
NM_001605.3(AARS1):c.2757G>A (p.Trp919Ter) rs1959876202
NM_001605.3(AARS1):c.2765A>T (p.Gln922Leu) rs2152149415
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.277T>C (p.Tyr93His)
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)
NM_001605.3(AARS1):c.2792G>T (p.Gly931Val)
NM_001605.3(AARS1):c.2810C>T (p.Ser937Phe)
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
NM_001605.3(AARS1):c.2817G>T (p.Gln939His) rs140048586
NM_001605.3(AARS1):c.2818G>T (p.Ala940Ser)
NM_001605.3(AARS1):c.2819C>T (p.Ala940Val) rs1959874409
NM_001605.3(AARS1):c.281A>C (p.His94Pro)
NM_001605.3(AARS1):c.2822C>G (p.Thr941Arg)
NM_001605.3(AARS1):c.2822C>T (p.Thr941Ile)
NM_001605.3(AARS1):c.2837G>T (p.Gly946Val)
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.2849A>T (p.Glu950Val) rs1205588554
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)
NM_001605.3(AARS1):c.2860C>T (p.Leu954=) rs1959872785
NM_001605.3(AARS1):c.2863G>C (p.Ala955Pro)
NM_001605.3(AARS1):c.2867C>G (p.Thr956Ser)
NM_001605.3(AARS1):c.2867C>T (p.Thr956Ile) rs747833388
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
NM_001605.3(AARS1):c.286A>G (p.Thr96Ala)
NM_001605.3(AARS1):c.2870C>A (p.Ser957Tyr)
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys) rs146540551
NM_001605.3(AARS1):c.2874C>G (p.Phe958Leu)
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)
NM_001605.3(AARS1):c.2879A>C (p.Gln960Pro) rs1959872136
NM_001605.3(AARS1):c.2880G>C (p.Gln960His)
NM_001605.3(AARS1):c.2882T>C (p.Leu961Pro)
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.2890G>A (p.Gly964Arg)
NM_001605.3(AARS1):c.2899A>C (p.Lys967Gln)
NM_001605.3(AARS1):c.289TTC[1] (p.Phe98del) rs773602581
NM_001605.3(AARS1):c.2901G>C (p.Lys967Asn) rs762241810
NM_001605.3(AARS1):c.2906G>C (p.Ter969Ser)
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)
NM_001605.3(AARS1):c.294C>T (p.Phe98=)
NM_001605.3(AARS1):c.299T>C (p.Met100Thr)
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer) rs763937206
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+3A>G rs747431164
NM_001605.3(AARS1):c.333+4A>C rs2152166953
NM_001605.3(AARS1):c.333+9A>T
NM_001605.3(AARS1):c.333G>A (p.Lys111=) rs1597446167
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.334-6_338del rs2152166762
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)
NM_001605.3(AARS1):c.336A>G (p.Glu112=) rs759137116
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe) rs1960558852
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.352G>C (p.Ala118Pro)
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg) rs1960733766
NM_001605.3(AARS1):c.370C>T (p.Gln124Ter)
NM_001605.3(AARS1):c.377T>A (p.Phe126Tyr)
NM_001605.3(AARS1):c.377T>C (p.Phe126Ser)
NM_001605.3(AARS1):c.380G>T (p.Gly127Val)
NM_001605.3(AARS1):c.386C>T (p.Pro129Leu)
NM_001605.3(AARS1):c.387C>T (p.Pro129=) rs1960557000
NM_001605.3(AARS1):c.388A>G (p.Ile130Val)
NM_001605.3(AARS1):c.38G>A (p.Arg13Gln)
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)
NM_001605.3(AARS1):c.392A>G (p.Glu131Gly)
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
NM_001605.3(AARS1):c.400T>C (p.Tyr134His) rs1960556610
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)
NM_001605.3(AARS1):c.416G>A (p.Gly139Asp)
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr) rs2152166712
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)
NM_001605.3(AARS1):c.429A>C (p.Ala143=) rs1457318201
NM_001605.3(AARS1):c.431C>G (p.Ala144Gly)
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)
NM_001605.3(AARS1):c.436T>C (p.Leu146=)
NM_001605.3(AARS1):c.43A>C (p.Ile15Leu)
NM_001605.3(AARS1):c.443C>T (p.Ala148Val) rs1960555053
NM_001605.3(AARS1):c.445G>C (p.Asp149His)
NM_001605.3(AARS1):c.453A>G (p.Glu151=) rs765555696
NM_001605.3(AARS1):c.461A>C (p.Gln154Pro)
NM_001605.3(AARS1):c.461A>G (p.Gln154Arg)
NM_001605.3(AARS1):c.462G>C (p.Gln154His) rs1164802341
NM_001605.3(AARS1):c.465C>G (p.Ile155Met)
NM_001605.3(AARS1):c.46G>A (p.Asp16Asn)
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.479+5G>A rs1487772006
NM_001605.3(AARS1):c.479G>A (p.Gly160Glu)
NM_001605.3(AARS1):c.480-18T>C
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.480G>C (p.Gly160=) rs2152163363
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly) rs1597443484
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu) rs2152163346
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)
NM_001605.3(AARS1):c.49T>G (p.Phe17Val)
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
NM_001605.3(AARS1):c.511A>G (p.Met171Val)
NM_001605.3(AARS1):c.52T>G (p.Phe18Val)
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)
NM_001605.3(AARS1):c.53T>A (p.Phe18Tyr)
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)
NM_001605.3(AARS1):c.543G>A (p.Thr181=) rs900751261
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
NM_001605.3(AARS1):c.563G>A (p.Ser188Asn)
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)
NM_001605.3(AARS1):c.573C>G (p.His191Gln)
NM_001605.3(AARS1):c.583A>G (p.Ile195Val)
NM_001605.3(AARS1):c.58A>T (p.Arg20Trp) rs770697148
NM_001605.3(AARS1):c.593G>A (p.Arg198Gln)
NM_001605.3(AARS1):c.598G>A (p.Ala200Thr)
NM_001605.3(AARS1):c.601G>C (p.Ala201Pro) rs760716722
NM_001605.3(AARS1):c.601G>T (p.Ala201Ser) rs760716722
NM_001605.3(AARS1):c.602C>G (p.Ala201Gly) rs1028669019
NM_001605.3(AARS1):c.60G>A (p.Arg20=)
NM_001605.3(AARS1):c.612C>T (p.Val204=)
NM_001605.3(AARS1):c.615C>G (p.Asn205Lys) rs1180375496
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)
NM_001605.3(AARS1):c.618G>A (p.Gln206=) rs139785247
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu) rs147424208
NM_001605.3(AARS1):c.621C>T (p.Asp207=) rs147424208
NM_001605.3(AARS1):c.622G>C (p.Asp208His) rs780893599
NM_001605.3(AARS1):c.623A>C (p.Asp208Ala)
NM_001605.3(AARS1):c.624C>G (p.Asp208Glu) rs1960410317
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
NM_001605.3(AARS1):c.639G>A (p.Glu213=) rs2152163164
NM_001605.3(AARS1):c.63C>G (p.Asn21Lys)
NM_001605.3(AARS1):c.641T>G (p.Ile214Ser) rs1960409749
NM_001605.3(AARS1):c.648C>G (p.Asn216Lys) rs753186792
NM_001605.3(AARS1):c.651T>C (p.Leu217=) rs1960409154
NM_001605.3(AARS1):c.651del (p.Val218fs) rs1960409206
NM_001605.3(AARS1):c.658A>C (p.Ile220Leu)
NM_001605.3(AARS1):c.664T>A (p.Tyr222Asn) rs1960408934
NM_001605.3(AARS1):c.665A>G (p.Tyr222Cys)
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.672-10G>T
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.682G>A (p.Gly228Ser)
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr) rs530889354
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
NM_001605.3(AARS1):c.68A>G (p.His23Arg)
NM_001605.3(AARS1):c.691A>T (p.Lys231Ter)
NM_001605.3(AARS1):c.695C>G (p.Pro232Arg)
NM_001605.3(AARS1):c.701C>G (p.Pro234Arg) rs1960368917
NM_001605.3(AARS1):c.706A>G (p.Lys236Glu)
NM_001605.3(AARS1):c.709A>G (p.Ser237Gly) rs2152162176
NM_001605.3(AARS1):c.70A>T (p.Thr24Ser)
NM_001605.3(AARS1):c.722G>C (p.Gly241Ala)
NM_001605.3(AARS1):c.723G>T (p.Gly241=)
NM_001605.3(AARS1):c.726G>C (p.Met242Ile) rs780360628
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
NM_001605.3(AARS1):c.736C>A (p.Arg246=) rs756337758
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001605.3(AARS1):c.737G>T (p.Arg246Leu)
NM_001605.3(AARS1):c.739C>A (p.Leu247Met) rs557956516
NM_001605.3(AARS1):c.743T>C (p.Val248Ala) rs565851586
NM_001605.3(AARS1):c.743dup (p.Ser249fs)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.755A>G (p.Gln252Arg)
NM_001605.3(AARS1):c.756G>C (p.Gln252His)
NM_001605.3(AARS1):c.761A>C (p.Lys254Thr) rs1037360663
NM_001605.3(AARS1):c.767C>A (p.Ser256Tyr)
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) rs1597442205
NM_001605.3(AARS1):c.774T>C (p.Tyr258=) rs2152162118
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) rs1165867512
NM_001605.3(AARS1):c.781G>C (p.Asp261His)
NM_001605.3(AARS1):c.783C>T (p.Asp261=)
NM_001605.3(AARS1):c.785_793del (p.Leu262_Val264del)
NM_001605.3(AARS1):c.797A>G (p.Tyr266Cys) rs1567607754
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
NM_001605.3(AARS1):c.811C>G (p.Gln271Glu) rs1597442182
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)
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+6G>T rs2152162075
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.817-1G>A rs866662905
NM_001605.3(AARS1):c.817-3T>C
NM_001605.3(AARS1):c.817-3dup
NM_001605.3(AARS1):c.817-4A>C
NM_001605.3(AARS1):c.81C>G (p.His27Gln)
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)
NM_001605.3(AARS1):c.822A>T (p.Thr274=) rs757503544
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)
NM_001605.3(AARS1):c.827C>T (p.Ala276Val)
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
NM_001605.3(AARS1):c.830G>C (p.Arg277Pro)
NM_001605.3(AARS1):c.832C>G (p.Pro278Ala) rs1251770154
NM_001605.3(AARS1):c.832C>T (p.Pro278Ser)
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
NM_001605.3(AARS1):c.836A>C (p.Tyr279Ser)
NM_001605.3(AARS1):c.83C>T (p.Ser28Leu) rs1326668375
NM_001605.3(AARS1):c.841G>C (p.Gly281Arg) rs750278639
NM_001605.3(AARS1):c.846A>G (p.Lys282=) rs561670727
NM_001605.3(AARS1):c.850G>A (p.Gly284Ser)
NM_001605.3(AARS1):c.853G>T (p.Ala285Ser) rs2152161765
NM_001605.3(AARS1):c.856G>A (p.Glu286Lys) rs2152161761
NM_001605.3(AARS1):c.877A>G (p.Met293Val) rs762420332
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_001605.3(AARS1):c.887G>C (p.Arg296Pro) rs1375611364
NM_001605.3(AARS1):c.893T>A (p.Leu298Gln)
NM_001605.3(AARS1):c.896C>T (p.Ala299Val)
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
NM_001605.3(AARS1):c.89C>T (p.Ala30Val)
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly) rs1302363015
NM_001605.3(AARS1):c.909G>T (p.Arg303=) rs1344681812
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile) rs2152161709
NM_001605.3(AARS1):c.912C>G (p.Thr304=) rs2152161707
NM_001605.3(AARS1):c.913A>C (p.Ile305Leu)
NM_001605.3(AARS1):c.923C>T (p.Ala308Val)
NM_001605.3(AARS1):c.926T>C (p.Leu309Pro) rs1960350126
NM_001605.3(AARS1):c.927G>A (p.Leu309=)
NM_001605.3(AARS1):c.937G>T (p.Gly313Cys)
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp) rs1679069745
NM_001605.3(AARS1):c.939C>A (p.Gly313=)
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln) rs370496079
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
NM_001605.3(AARS1):c.955G>C (p.Gly319Arg)
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly) rs138490305
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+1G>T
NM_001605.3(AARS1):c.962+1del rs1960348987
NM_001605.3(AARS1):c.962+4A>C
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.966T>A (p.Tyr322Ter)
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
NM_001605.3(AARS1):c.967G>T (p.Val323Leu) rs2152160767
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991
NM_001605.3(AARS1):c.9T>C (p.Ser3=)
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr) rs1554338262
NM_002047.4(GARS1):c.1001T>G (p.Ile334Ser) rs1554338262
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser) rs1554338264
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg) rs2128134025
NM_002047.4(GARS1):c.1007C>T (p.Pro336Leu)
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter) rs767696937
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg) rs2128134030
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
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+1G>A rs1554338272
NM_002047.4(GARS1):c.1031+6G>T rs2128134034
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.1032-6T>C
NM_002047.4(GARS1):c.1034A>G (p.Glu345Gly) rs1554338641
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys) rs770934994
NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)
NM_002047.4(GARS1):c.1067A>G (p.Asp356Gly)
NM_002047.4(GARS1):c.1068T>A (p.Asp356Glu) rs1344399581
NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)
NM_002047.4(GARS1):c.1092G>T (p.Lys364Asn) rs1357360844
NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)
NM_002047.4(GARS1):c.110G>A (p.Ser37Asn) rs2128131936
NM_002047.4(GARS1):c.110del (p.Ser37fs) rs1284420601
NM_002047.4(GARS1):c.1119T>C (p.Leu373=)
NM_002047.4(GARS1):c.1123T>C (p.Leu375=) rs544280407
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg) rs2128134481
NM_002047.4(GARS1):c.1155G>C (p.Gln385His) rs1584038245
NM_002047.4(GARS1):c.1158C>G (p.Ser386=)
NM_002047.4(GARS1):c.1162C>A (p.Arg388=) rs759277467
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly) rs759277467
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp) rs759277467
NM_002047.4(GARS1):c.1168A>G (p.Met390Val)
NM_002047.4(GARS1):c.1169T>C (p.Met390Thr)
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1172G>A (p.Arg391His) rs199832199
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
NM_002047.4(GARS1):c.1181A>G (p.Asp394Gly) rs1278294610
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
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.1198G>A (p.Val400Met) rs1782903666
NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser) rs1000458033
NM_002047.4(GARS1):c.1210A>C (p.Thr404Pro)
NM_002047.4(GARS1):c.1225T>G (p.Phe409Val) rs1782904125
NM_002047.4(GARS1):c.1227C>A (p.Phe409Leu) rs1241301935
NM_002047.4(GARS1):c.1235G>A (p.Arg412His)
NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)
NM_002047.4(GARS1):c.1245C>T (p.Leu415=) rs1584039354
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
NM_002047.4(GARS1):c.1264A>C (p.Ile422Leu)
NM_002047.4(GARS1):c.1264A>G (p.Ile422Val)
NM_002047.4(GARS1):c.1282C>T (p.Arg428Cys) rs951085877
NM_002047.4(GARS1):c.1283G>T (p.Arg428Leu) rs1203971547
NM_002047.4(GARS1):c.1289G>A (p.Arg430Gln) rs1430190191
NM_002047.4(GARS1):c.128C>G (p.Pro43Arg) rs570608946
NM_002047.4(GARS1):c.1291C>A (p.Gln431Lys) rs375133923
NM_002047.4(GARS1):c.1297A>C (p.Met433Leu)
NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)
NM_002047.4(GARS1):c.1315C>T (p.His439Tyr) rs1782906838
NM_002047.4(GARS1):c.131T>G (p.Ile44Ser) rs1791215308
NM_002047.4(GARS1):c.1337A>T (p.Asp446Val) rs1554338834
NM_002047.4(GARS1):c.1348A>G (p.Lys450Glu)
NM_002047.4(GARS1):c.1359+17T>G
NM_002047.4(GARS1):c.1359+3A>G
NM_002047.4(GARS1):c.1375G>A (p.Val459Ile)
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala) rs924595179
NM_002047.4(GARS1):c.1381T>C (p.Cys461Arg)
NM_002047.4(GARS1):c.1387G>T (p.Asp463Tyr) rs1554339284
NM_002047.4(GARS1):c.1391_1407del (p.Arg464fs) rs2128135088
NM_002047.4(GARS1):c.1396T>C (p.Cys466Arg) rs2128135092
NM_002047.4(GARS1):c.1397G>A (p.Cys466Tyr)
NM_002047.4(GARS1):c.1397G>T (p.Cys466Phe) rs756498678
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
NM_002047.4(GARS1):c.1407C>G (p.Leu469=) rs2128135093
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
NM_002047.4(GARS1):c.140C>T (p.Pro47Leu)
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
NM_002047.4(GARS1):c.1420C>G (p.Arg474Gly)
NM_002047.4(GARS1):c.1420C>T (p.Arg474Ter)
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln) rs1345590827
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
NM_002047.4(GARS1):c.1428C>T (p.Thr476=) rs1212959476
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp) rs2128135103
NM_002047.4(GARS1):c.1445C>G (p.Ala482Gly)
NM_002047.4(GARS1):c.1447G>A (p.Glu483Lys)
NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)
NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)
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.1490T>G (p.Phe497Cys)
NM_002047.4(GARS1):c.1497C>A (p.Pro499=) rs1783029120
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
NM_002047.4(GARS1):c.1518G>A (p.Lys506=) rs1783029490
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
NM_002047.4(GARS1):c.1545G>C (p.Val515=)
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
NM_002047.4(GARS1):c.1551G>A (p.Glu517=) rs2128135204
NM_002047.4(GARS1):c.1568A>T (p.Asp523Val) rs779225125
NM_002047.4(GARS1):c.1574G>A (p.Cys525Tyr) rs758225567
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.1592A>C (p.Glu531Ala) rs1783032476
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
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+3A>G
NM_002047.4(GARS1):c.1613+9T>A rs75855065
NM_002047.4(GARS1):c.1614-13T>A
NM_002047.4(GARS1):c.1614-17_1614-16del
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1614-5C>T
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg) rs745739050
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
NM_002047.4(GARS1):c.1644A>G (p.Thr548=) rs1783125064
NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)
NM_002047.4(GARS1):c.164T>C (p.Met55Thr)
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu) rs1783125497
NM_002047.4(GARS1):c.1675A>G (p.Lys559Glu)
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
NM_002047.4(GARS1):c.1699+18A>G
NM_002047.4(GARS1):c.1699+23_1699+26del
NM_002047.4(GARS1):c.1699+6T>A rs1362621582
NM_002047.4(GARS1):c.1700-11C>G
NM_002047.4(GARS1):c.1700-1G>A rs1584051498
NM_002047.4(GARS1):c.1700-6T>C
NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys) rs1060502839
NM_002047.4(GARS1):c.170_171delinsAT (p.Gly57Asp)
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys) rs1242186885
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
NM_002047.4(GARS1):c.172G>C (p.Ala58Pro)
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
NM_002047.4(GARS1):c.1734del (p.Phe579fs)
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp) rs2128135873
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.1786C>T (p.Arg596Ter)
NM_002047.4(GARS1):c.1790_1792del (p.Glu597del) rs879254345
NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)
NM_002047.4(GARS1):c.1802A>G (p.Gln601Arg)
NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)
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+1G>A rs1554340340
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.1810-2A>T
NM_002047.4(GARS1):c.1810-4C>T
NM_002047.4(GARS1):c.1810T>G (p.Phe604Val)
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
NM_002047.4(GARS1):c.1827T>C (p.Ala609=) rs2128136202
NM_002047.4(GARS1):c.1835C>T (p.Ala612Val)
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr) rs765235116
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.1885C>G (p.Pro629Ala)
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.1902A>G (p.Leu634=) rs2128136213
NM_002047.4(GARS1):c.1903+14A>G
NM_002047.4(GARS1):c.1903+15T>C
NM_002047.4(GARS1):c.1903+16T>A
NM_002047.4(GARS1):c.1903+16T>G
NM_002047.4(GARS1):c.1903+18G>A rs2128136216
NM_002047.4(GARS1):c.1903+4_1903+67dup
NM_002047.4(GARS1):c.1904-11A>G
NM_002047.4(GARS1):c.1904-19C>T rs1204535363
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup) rs1562769487
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
NM_002047.4(GARS1):c.1918A>G (p.Arg640Gly)
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile) rs1554340789
NM_002047.4(GARS1):c.1933C>T (p.His645Tyr)
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
NM_002047.4(GARS1):c.194C>T (p.Ala65Val) rs1179352387
NM_002047.4(GARS1):c.1956G>T (p.Gly652=) rs1783251236
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
NM_002047.4(GARS1):c.1977C>T (p.Ala659=) rs746028145
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala) rs1783252231
NM_002047.4(GARS1):c.1992T>A (p.Ile664=) rs1584055669
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
NM_002047.4(GARS1):c.1A>T (p.Met1Leu) rs1345458433
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
NM_002047.4(GARS1):c.2013C>T (p.Thr671=)
NM_002047.4(GARS1):c.2014A>G (p.Ile672Val) rs1562784262
NM_002047.4(GARS1):c.2015T>C (p.Ile672Thr) rs1554340824
NM_002047.4(GARS1):c.2029G>C (p.Val677Leu) rs2128136305
NM_002047.4(GARS1):c.2037del (p.Thr680fs)
NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
NM_002047.4(GARS1):c.2062G>C (p.Asp688His)
NM_002047.4(GARS1):c.2065C>T (p.Arg689Cys) rs376308368
NM_002047.4(GARS1):c.2073_2074del (p.Met692fs)
NM_002047.4(GARS1):c.2077C>T (p.Arg693Trp)
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)
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.2110A>G (p.Ser704Gly)
NM_002047.4(GARS1):c.2121A>C (p.Gln707His) rs1554340999
NM_002047.4(GARS1):c.212T>C (p.Val71Ala)
NM_002047.4(GARS1):c.2153A>G (p.Asp718Gly)
NM_002047.4(GARS1):c.2159A>T (p.Glu720Val)
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
NM_002047.4(GARS1):c.2173C>G (p.Leu725Val)
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg) rs1422434626
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
NM_002047.4(GARS1):c.2188G>C (p.Glu730Gln) rs1783283131
NM_002047.4(GARS1):c.218A>T (p.Gln73Leu)
NM_002047.4(GARS1):c.2193T>A (p.Thr731=)
NM_002047.4(GARS1):c.2198A>T (p.Lys733Ile)
NM_002047.4(GARS1):c.2206A>G (p.Thr736Ala) rs1785775131
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)
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.222+6G>A
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys) rs1783284502
NM_002047.4(GARS1):c.223-5G>A
NM_002047.4(GARS1):c.223-5G>T
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter) rs1479788149
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn) rs2128132417
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)
NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)
NM_002047.4(GARS1):c.309G>C (p.Arg103Ser) rs768571328
NM_002047.4(GARS1):c.311T>C (p.Val104Ala)
NM_002047.4(GARS1):c.313C>G (p.Leu105Val) rs1791317535
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.324G>A (p.Lys108=)
NM_002047.4(GARS1):c.325-2A>G
NM_002047.4(GARS1):c.325-9C>A rs770645408
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys) rs1036198120
NM_002047.4(GARS1):c.344A>G (p.Lys115Arg) rs1554336991
NM_002047.4(GARS1):c.348T>G (p.Asp116Glu) rs2128132552
NM_002047.4(GARS1):c.349G>A (p.Asp117Asn)
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
NM_002047.4(GARS1):c.350A>G (p.Asp117Gly)
NM_002047.4(GARS1):c.353T>C (p.Ile118Thr) rs1791340048
NM_002047.4(GARS1):c.363A>G (p.Arg121=)
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln) rs797044855
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)
NM_002047.4(GARS1):c.377A>T (p.Asp126Val) rs766540026
NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro) rs1554336495
NM_002047.4(GARS1):c.3G>A (p.Met1Ile) rs781520666
NM_002047.4(GARS1):c.406C>A (p.Gln136Lys) rs2128132565
NM_002047.4(GARS1):c.418A>C (p.Ile140Leu) rs888805042
NM_002047.4(GARS1):c.418A>G (p.Ile140Val)
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser) rs1584022929
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.446A>G (p.Asp149Gly) rs1791365947
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu) rs751505742
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018
NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup) rs150213018
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup) rs150213018
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
NM_002047.4(GARS1):c.516_517delinsTA (p.Glu172_Glu173delinsAspLys) rs2128132720
NM_002047.4(GARS1):c.529G>C (p.Glu177Gln)
NM_002047.4(GARS1):c.532A>G (p.Ile178Val) rs1791369066
NM_002047.4(GARS1):c.534C>G (p.Ile178Met) rs774732829
NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)
NM_002047.4(GARS1):c.537T>C (p.Asp179=) rs772899197
NM_002047.4(GARS1):c.542C>T (p.Thr181Ile) rs1425456318
NM_002047.4(GARS1):c.551C>T (p.Thr184Ile)
NM_002047.4(GARS1):c.569+12C>T
NM_002047.4(GARS1):c.569+20T>G rs2128132727
NM_002047.4(GARS1):c.570-8T>G
NM_002047.4(GARS1):c.575C>G (p.Ser192Cys)
NM_002047.4(GARS1):c.578G>A (p.Gly193Asp) rs1791411808
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)
NM_002047.4(GARS1):c.614A>T (p.Asp205Val) rs2128132956
NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val) rs2128132958
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.628G>T (p.Glu210Ter) rs1791412752
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
NM_002047.4(GARS1):c.638G>A (p.Arg213His) rs780116880
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
NM_002047.4(GARS1):c.646C>T (p.His216Tyr)
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
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.658+3G>T
NM_002047.4(GARS1):c.659-14C>G
NM_002047.4(GARS1):c.659-3del rs1791421299
NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)
NM_002047.4(GARS1):c.683A>C (p.Asp228Ala) rs1791422443
NM_002047.4(GARS1):c.685AAG[1] (p.Lys230del)
NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly) rs1584026626
NM_002047.4(GARS1):c.694del (p.Ser232fs) rs1791422813
NM_002047.4(GARS1):c.695C>T (p.Ser232Phe)
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.701A>G (p.Glu234Gly)
NM_002047.4(GARS1):c.705G>T (p.Lys235Asn) rs759012168
NM_002047.4(GARS1):c.710C>A (p.Ser237Ter) rs2128133017
NM_002047.4(GARS1):c.711A>G (p.Ser237=) rs1584026695
NM_002047.4(GARS1):c.719A>C (p.Glu240Ala) rs1791423440
NM_002047.4(GARS1):c.719A>T (p.Glu240Val) rs1791423440
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn) rs775140242
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr) 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.751C>G (p.Gln251Glu)
NM_002047.4(GARS1):c.759A>G (p.Glu253=) rs1554337956
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu) rs765478968
NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
NM_002047.4(GARS1):c.780C>T (p.Asn260=) rs2128133721
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
NM_002047.4(GARS1):c.790_792del (p.Lys264del) rs1791556326
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.801T>G (p.Ile267Met)
NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)
NM_002047.4(GARS1):c.818C>T (p.Ser273Phe) rs1554337983
NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)
NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)
NM_002047.4(GARS1):c.837C>T (p.Asn279=) rs1029686290
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
NM_002047.4(GARS1):c.842T>A (p.Met281Lys) rs1791558334
NM_002047.4(GARS1):c.855C>T (p.Phe285=) rs786204099
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
NM_002047.4(GARS1):c.86C>T (p.Ser29Leu)
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
NM_002047.4(GARS1):c.875T>G (p.Met292Arg) rs1064795123
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
NM_002047.4(GARS1):c.87G>T (p.Ser29=) rs772356008
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
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.883T>A (p.Tyr295Asn) rs1782769087
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr) rs1184401493
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)
NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)
NM_002047.4(GARS1):c.953A>T (p.Lys318Met) rs2128134017
NM_002047.4(GARS1):c.968C>T (p.Ala323Val) rs2128134021
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_002047.4(GARS1):c.974A>T (p.Gln325Leu)
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg) rs1584034430
NM_002047.4(GARS1):c.979G>C (p.Gly327Arg) rs1584034430
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)
NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser) rs794728612
NM_005572.4(LMNA):c.1714C>G (p.Arg572Gly)
NM_014874.3(MFN2):c.600-?_816+?del
NM_014874.4(MFN2):c.1002G>A (p.Arg334=) rs1410500132
NM_014874.4(MFN2):c.1003A>G (p.Met335Val) rs1557527886
NM_014874.4(MFN2):c.1017G>A (p.Gln339=) rs2100840368
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln) rs1557527906
NM_014874.4(MFN2):c.1029G>A (p.Arg343=)
NM_014874.4(MFN2):c.1036G>T (p.Glu346Ter)
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.1039-12T>C
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.1042T>C (p.Cys348Arg) rs1639195979
NM_014874.4(MFN2):c.1043G>A (p.Cys348Tyr)
NM_014874.4(MFN2):c.1047C>T (p.Ile349=) rs2100840933
NM_014874.4(MFN2):c.1061T>G (p.Val354Gly) rs1057518235
NM_014874.4(MFN2):c.1064_1066del (p.Lys355del) rs1569853941
NM_014874.4(MFN2):c.1065G>T (p.Lys355Asn)
NM_014874.4(MFN2):c.1067C>A (p.Thr356Asn) rs1569853976
NM_014874.4(MFN2):c.1067C>G (p.Thr356Ser)
NM_014874.4(MFN2):c.1070A>C (p.Lys357Thr) rs2100841033
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del) rs1478175861
NM_014874.4(MFN2):c.1081C>T (p.His361Tyr) rs1569854012
NM_014874.4(MFN2):c.1082A>C (p.His361Pro) rs1064793170
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1084A>C (p.Thr362Pro) rs879254176
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
NM_014874.4(MFN2):c.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro) rs879254011
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val) rs868500000
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
NM_014874.4(MFN2):c.1100A>C (p.Gln367Pro)
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter) rs1639200820
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1127T>G (p.Met376Arg) rs1569854342
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro) rs1064797107
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
NM_014874.4(MFN2):c.1140C>T (p.His380=)
NM_014874.4(MFN2):c.1141A>G (p.Met381Val) rs762210837
NM_014874.4(MFN2):c.1141A>T (p.Met381Leu) rs762210837
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.1150C>G (p.Arg384Gly)
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln) rs565042936
NM_014874.4(MFN2):c.1151G>C (p.Arg384Pro)
NM_014874.4(MFN2):c.1156C>T (p.Gln386Ter)
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.1160+1G>A rs1553144086
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.1161G>C (p.Gln387His)
NM_014874.4(MFN2):c.1161G>T (p.Gln387His) rs2100847056
NM_014874.4(MFN2):c.1168T>C (p.Cys390Arg) rs1569859647
NM_014874.4(MFN2):c.1182T>G (p.Arg394=)
NM_014874.4(MFN2):c.118A>C (p.Asn40His) rs1026123951
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp) rs1026123951
NM_014874.4(MFN2):c.1194A>G (p.Gln398=) rs555006809
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
NM_014874.4(MFN2):c.1220A>G (p.Gln407Arg) rs1639295881
NM_014874.4(MFN2):c.1221G>T (p.Gln407His) rs1279266159
NM_014874.4(MFN2):c.1225G>C (p.Glu409Gln)
NM_014874.4(MFN2):c.1228C>A (p.Leu410Ile)
NM_014874.4(MFN2):c.122G>A (p.Gly41Asp) rs2100802868
NM_014874.4(MFN2):c.1236T>C (p.Ala412=) rs2100847372
NM_014874.4(MFN2):c.1241A>C (p.Asp414Ala)
NM_014874.4(MFN2):c.1241A>T (p.Asp414Val) rs1569860081
NM_014874.4(MFN2):c.1243T>C (p.Tyr415His)
NM_014874.4(MFN2):c.1244A>G (p.Tyr415Cys) rs1278360900
NM_014874.4(MFN2):c.1247A>T (p.Lys416Met) rs1639297626
NM_014874.4(MFN2):c.1251G>T (p.Leu417=) rs1291955409
NM_014874.4(MFN2):c.1252C>G (p.Arg418Gly)
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1253G>T (p.Arg418Leu) rs766998571
NM_014874.4(MFN2):c.1268C>T (p.Thr423Met) rs8192303
NM_014874.4(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247
NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser) rs2100847602
NM_014874.4(MFN2):c.1287+10GAG[2]
NM_014874.4(MFN2):c.1287+19G>A rs994622836
NM_014874.4(MFN2):c.1287+1G>C rs1639299226
NM_014874.4(MFN2):c.1287+4A>G rs1162804216
NM_014874.4(MFN2):c.1287+6A>G rs778274550
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.1288G>A (p.Val430Met)
NM_014874.4(MFN2):c.1292C>A (p.Ser431Ter) rs764374251
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.1301T>A (p.Met434Lys)
NM_014874.4(MFN2):c.1306G>A (p.Glu436Lys)
NM_014874.4(MFN2):c.1306GAG[1] (p.Glu437del) rs766213721
NM_014874.4(MFN2):c.130G>C (p.Glu44Gln)
NM_014874.4(MFN2):c.1319G>A (p.Arg440His)
NM_014874.4(MFN2):c.1319G>T (p.Arg440Leu)
NM_014874.4(MFN2):c.1320C>G (p.Arg440=)
NM_014874.4(MFN2):c.1322T>C (p.Leu441Pro) rs1557530701
NM_014874.4(MFN2):c.1327G>A (p.Val443Ile) rs780450613
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
NM_014874.4(MFN2):c.1330C>G (p.Leu444Val) rs1639318979
NM_014874.4(MFN2):c.1330C>T (p.Leu444=) rs1639318979
NM_014874.4(MFN2):c.1331T>C (p.Leu444Pro) rs1569861490
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
NM_014874.4(MFN2):c.1332G>T (p.Leu444=) rs142848213
NM_014874.4(MFN2):c.1333G>A (p.Val445Met) rs1639319467
NM_014874.4(MFN2):c.1339G>A (p.Asp447Asn) rs368032696
NM_014874.4(MFN2):c.1340A>G (p.Asp447Gly)
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.1357C>T (p.His453Tyr)
NM_014874.4(MFN2):c.1360C>A (p.Pro454Thr)
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe) rs1639321356
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1391A>T (p.Asn464Ile)
NM_014874.4(MFN2):c.1392+12A>G
NM_014874.4(MFN2):c.1392+20G>T rs1367301944
NM_014874.4(MFN2):c.1392+3G>A
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.1406A>G (p.His469Arg)
NM_014874.4(MFN2):c.140G>C (p.Gly47Ala) rs1263406133
NM_014874.4(MFN2):c.1427G>A (p.Arg476Gln)
NM_014874.4(MFN2):c.142G>A (p.Ala48Thr)
NM_014874.4(MFN2):c.1433T>C (p.Met478Thr)
NM_014874.4(MFN2):c.1434G>A (p.Met478Ile)
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.1445G>A (p.Cys482Tyr)
NM_014874.4(MFN2):c.1447T>C (p.Ser483Pro) rs1639334188
NM_014874.4(MFN2):c.1448C>T (p.Ser483Phe)
NM_014874.4(MFN2):c.1454C>T (p.Ala485Val)
NM_014874.4(MFN2):c.1455C>T (p.Ala485=)
NM_014874.4(MFN2):c.145T>G (p.Tyr49Asp) rs2100802936
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.1477A>C (p.Met493Leu)
NM_014874.4(MFN2):c.147C>T (p.Tyr49=)
NM_014874.4(MFN2):c.1482G>C (p.Gln494His)
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
NM_014874.4(MFN2):c.1489A>G (p.Met497Val) rs2100850292
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.1495+13G>A
NM_014874.4(MFN2):c.1495+15_1495+16del rs2100850386
NM_014874.4(MFN2):c.1495+3_1495+6dup rs2100850333
NM_014874.4(MFN2):c.1495+8C>A rs775224412
NM_014874.4(MFN2):c.1496-18C>T
NM_014874.4(MFN2):c.1496-2A>G
NM_014874.4(MFN2):c.1496-3C>T
NM_014874.4(MFN2):c.1496-8C>G rs1639377731
NM_014874.4(MFN2):c.1496A>T (p.Asp499Val)
NM_014874.4(MFN2):c.1498G>A (p.Gly500Ser) rs1639378150
NM_014874.4(MFN2):c.1502T>C (p.Leu501Ser)
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_014874.4(MFN2):c.1512C>T (p.Leu504=)
NM_014874.4(MFN2):c.1516C>T (p.Pro506Ser)
NM_014874.4(MFN2):c.1523C>G (p.Ser508Cys)
NM_014874.4(MFN2):c.1525G>A (p.Val509Met)
NM_014874.4(MFN2):c.1525G>T (p.Val509Leu) rs945014959
NM_014874.4(MFN2):c.1535A>G (p.Gln512Arg) rs2100852773
NM_014874.4(MFN2):c.1538T>C (p.Ile513Thr)
NM_014874.4(MFN2):c.1538_1541del (p.Ile513fs) rs2100852782
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1570C>T (p.Leu524Phe) rs866494871
NM_014874.4(MFN2):c.1573A>G (p.Asn525Asp)
NM_014874.4(MFN2):c.1574A>C (p.Asn525Thr)
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
NM_014874.4(MFN2):c.1588T>C (p.Cys530Arg)
NM_014874.4(MFN2):c.1590_1591del (p.Cys530_Asp531delinsTer) rs2100853005
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
NM_014874.4(MFN2):c.1606del (p.Asp536fs) rs2100853065
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
NM_014874.4(MFN2):c.1612del (p.Gln538fs) rs1569865516
NM_014874.4(MFN2):c.161C>T (p.Ala54Val)
NM_014874.4(MFN2):c.1621A>G (p.Ile541Val) rs1639383535
NM_014874.4(MFN2):c.1625A>C (p.Glu542Ala)
NM_014874.4(MFN2):c.1629C>G (p.Phe543Leu) rs2100853178
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.1642G>A (p.Gly548Arg) rs373368672
NM_014874.4(MFN2):c.1642G>C (p.Gly548Arg)
NM_014874.4(MFN2):c.1649C>A (p.Thr550Asn) rs2100853288
NM_014874.4(MFN2):c.1651A>G (p.Met551Val) rs2100853294
NM_014874.4(MFN2):c.1653G>A (p.Met551Ile) rs1553145126
NM_014874.4(MFN2):c.1654C>G (p.Leu552Val)
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1664G>C (p.Arg555Thr)
NM_014874.4(MFN2):c.1666T>C (p.Phe556Leu)
NM_014874.4(MFN2):c.1677C>T (p.Pro559=)
NM_014874.4(MFN2):c.1682A>C (p.Asn561Thr) rs778719488
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.1690C>G (p.Arg564Gly)
NM_014874.4(MFN2):c.1690C>T (p.Arg564Trp)
NM_014874.4(MFN2):c.1693G>A (p.Ala565Thr) rs1639388309
NM_014874.4(MFN2):c.1694C>A (p.Ala565Asp) rs770243526
NM_014874.4(MFN2):c.1698G>C (p.Leu566Phe) rs1557532315
NM_014874.4(MFN2):c.1699A>G (p.Met567Val) rs863224067
NM_014874.4(MFN2):c.1708A>G (p.Asn570Asp)
NM_014874.4(MFN2):c.1713C>G (p.Asp571Glu)
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+5G>A rs1639389952
NM_014874.4(MFN2):c.1716+6C>G rs1569866132
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.1717G>A (p.Val573Ile)
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
NM_014874.4(MFN2):c.171T>C (p.Leu57=) rs1443899568
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys) rs786204244
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
NM_014874.4(MFN2):c.1731C>T (p.Ile577=)
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
NM_014874.4(MFN2):c.175+13C>T
NM_014874.4(MFN2):c.175+5G>A
NM_014874.4(MFN2):c.175+6G>T rs762489839
NM_014874.4(MFN2):c.175+8G>T
NM_014874.4(MFN2):c.1753A>C (p.Ser585Arg)
NM_014874.4(MFN2):c.1755C>G (p.Ser585Arg) rs1335576013
NM_014874.4(MFN2):c.1758G>A (p.Met586Ile)
NM_014874.4(MFN2):c.1759C>A (p.Pro587Thr) rs771675874
NM_014874.4(MFN2):c.176-14A>G
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.176-3C>T rs975369655
NM_014874.4(MFN2):c.176-4C>G rs546254672
NM_014874.4(MFN2):c.176-8A>C rs1189123888
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu) rs1639428648
NM_014874.4(MFN2):c.1771C>T (p.Gln591Ter)
NM_014874.4(MFN2):c.1772_1773del (p.Gln591fs) rs1569868729
NM_014874.4(MFN2):c.1775G>A (p.Gly592Asp)
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr) rs1639429397
NM_014874.4(MFN2):c.1780C>A (p.Leu594Ile) rs1280803045
NM_014874.4(MFN2):c.1782C>A (p.Leu594=) rs950932066
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter) rs2100856157
NM_014874.4(MFN2):c.1807A>G (p.Met603Val)
NM_014874.4(MFN2):c.1808T>C (p.Met603Thr)
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
NM_014874.4(MFN2):c.180G>T (p.Thr60=)
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile) rs1553145384
NM_014874.4(MFN2):c.1811T>C (p.Val604Ala)
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
NM_014874.4(MFN2):c.1822G>T (p.Ala608Ser)
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val) rs1060501924
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
NM_014874.4(MFN2):c.1833A>T (p.Thr611=) rs2100856355
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr) rs2100856360
NM_014874.4(MFN2):c.183C>T (p.Tyr61=) rs1638734576
NM_014874.4(MFN2):c.1846A>G (p.Met616Val) rs753132224
NM_014874.4(MFN2):c.1846A>T (p.Met616Leu) rs753132224
NM_014874.4(MFN2):c.1847T>C (p.Met616Thr)
NM_014874.4(MFN2):c.1850G>A (p.Gly617Asp)
NM_014874.4(MFN2):c.1854del (p.Val620fs)
NM_014874.4(MFN2):c.1856TTG[2] (p.Val621del)
NM_014874.4(MFN2):c.1858G>C (p.Val620Leu)
NM_014874.4(MFN2):c.1859T>C (p.Val620Ala)
NM_014874.4(MFN2):c.1861G>A (p.Val621Ile) rs1639433425
NM_014874.4(MFN2):c.1862T>C (p.Val621Ala)
NM_014874.4(MFN2):c.1872+13T>G
NM_014874.4(MFN2):c.1872+17G>T
NM_014874.4(MFN2):c.1872+5G>A
NM_014874.4(MFN2):c.1873-13A>C
NM_014874.4(MFN2):c.1873-19C>T
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu) rs1163976600
NM_014874.4(MFN2):c.1884A>G (p.Ala628=) rs2100857953
NM_014874.4(MFN2):c.1890C>G (p.Gly630=)
NM_014874.4(MFN2):c.1892G>A (p.Trp631Ter)
NM_014874.4(MFN2):c.1894C>T (p.Arg632Trp) rs772701127
NM_014874.4(MFN2):c.1895G>A (p.Arg632Gln)
NM_014874.4(MFN2):c.189T>C (p.Asn63=) rs2100812512
NM_014874.4(MFN2):c.1909T>G (p.Ser637Ala)
NM_014874.4(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.4(MFN2):c.1915G>C (p.Gly639Arg) rs2100858120
NM_014874.4(MFN2):c.1918C>A (p.Leu640Ile)
NM_014874.4(MFN2):c.1918C>T (p.Leu640Phe) rs764683093
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
NM_014874.4(MFN2):c.1921T>G (p.Tyr641Asp) rs1569870930
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del) rs2100858186
NM_014874.4(MFN2):c.1931T>G (p.Leu644Arg)
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
NM_014874.4(MFN2):c.1936G>A (p.Val646Ile) rs754683866
NM_014874.4(MFN2):c.1936G>C (p.Val646Leu) rs754683866
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.1952C>G (p.Thr651Ser) rs746502519
NM_014874.4(MFN2):c.195A>C (p.Glu65Asp) rs1297357606
NM_014874.4(MFN2):c.1966G>A (p.Ala656Thr)
NM_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681
NM_014874.4(MFN2):c.1974G>C (p.Glu658Asp) rs2100858415
NM_014874.4(MFN2):c.1975A>G (p.Arg659Gly)
NM_014874.4(MFN2):c.1979C>T (p.Ala660Val) rs377090439
NM_014874.4(MFN2):c.1980C>T (p.Ala660=) rs2100858469
NM_014874.4(MFN2):c.1988G>A (p.Arg663His) rs766735605
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro) rs766735605
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
NM_014874.4(MFN2):c.1991A>T (p.Gln664Leu)
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
NM_014874.4(MFN2):c.2003A>G (p.His668Arg) rs747947098
NM_014874.4(MFN2):c.2016G>C (p.Lys672Asn)
NM_014874.4(MFN2):c.2017C>A (p.Leu673Met) rs2100858641
NM_014874.4(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
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.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.4(MFN2):c.2042G>C (p.Gly681Ala)
NM_014874.4(MFN2):c.2051G>T (p.Cys684Phe)
NM_014874.4(MFN2):c.2052C>T (p.Cys684=)
NM_014874.4(MFN2):c.2054_2069+1171del
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
NM_014874.4(MFN2):c.2058C>T (p.His686=) rs1040857073
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu) rs1218249174
NM_014874.4(MFN2):c.2069+13G>C rs766629075
NM_014874.4(MFN2):c.2069+15C>G rs375924621
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.2069+20C>A
NM_014874.4(MFN2):c.2069+4A>G rs2100858892
NM_014874.4(MFN2):c.2069+5G>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.2092del (p.His698fs) rs1569882539
NM_014874.4(MFN2):c.2093A>T (p.His698Leu) rs1060501916
NM_014874.4(MFN2):c.2096_2101del (p.Leu699_Cys700del) rs2100868068
NM_014874.4(MFN2):c.20G>T (p.Arg7Leu)
NM_014874.4(MFN2):c.2108T>C (p.Val703Ala) rs879253944
NM_014874.4(MFN2):c.210C>T (p.Thr70=)
NM_014874.4(MFN2):c.2113G>T (p.Val705Phe)
NM_014874.4(MFN2):c.2114T>A (p.Val705Asp)
NM_014874.4(MFN2):c.2118C>G (p.Thr706=) rs1281194317
NM_014874.4(MFN2):c.211A>G (p.Thr71Ala) rs548809273
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.4(MFN2):c.2123A>G (p.Glu708Gly) rs1557537210
NM_014874.4(MFN2):c.2125_2133del (p.Asn709_Glu711del)
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.2133G>T (p.Glu711Asp) rs1486405515
NM_014874.4(MFN2):c.2146G>C (p.Ala716Pro) rs144860227
NM_014874.4(MFN2):c.2146G>T (p.Ala716Ser) rs144860227
NM_014874.4(MFN2):c.214dup (p.Glu72fs)
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile) rs1639602553
NM_014874.4(MFN2):c.2156A>G (p.Lys719Arg) rs2100868327
NM_014874.4(MFN2):c.2159A>T (p.Lys720Ile) rs2100868363
NM_014874.4(MFN2):c.2170C>G (p.Leu724Val)
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.4(MFN2):c.2177C>G (p.Ser726Ter) rs1317009723
NM_014874.4(MFN2):c.2186G>C (p.Ser729Thr)
NM_014874.4(MFN2):c.2187C>A (p.Ser729Arg)
NM_014874.4(MFN2):c.2189A>G (p.Lys730Arg) rs1373071856
NM_014874.4(MFN2):c.2190A>T (p.Lys730Asn) rs1569883217
NM_014874.4(MFN2):c.2195A>G (p.Lys732Arg)
NM_014874.4(MFN2):c.2200C>G (p.Leu734Val) rs900143738
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.2205G>A (p.Arg735=) rs757975290
NM_014874.4(MFN2):c.2212G>A (p.Ala738Thr) rs1553146551
NM_014874.4(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.4(MFN2):c.2214C>T (p.Ala738=) rs781669282
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg) rs1557539004
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.4(MFN2):c.2220G>T (p.Trp740Cys) rs1060501925
NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp) rs1553146559
NM_014874.4(MFN2):c.2224G>C (p.Asp742His)
NM_014874.4(MFN2):c.2227A>G (p.Ser743Gly) rs1553146561
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn) rs1639696930
NM_014874.4(MFN2):c.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.4(MFN2):c.2231A>G (p.Glu744Gly) rs1131691782
NM_014874.4(MFN2):c.2232G>A (p.Glu744=) rs756693072
NM_014874.4(MFN2):c.2232G>C (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2232G>T (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg) rs1553146569
NM_014874.4(MFN2):c.2235C>T (p.Leu745=)
NM_014874.4(MFN2):c.2239A>T (p.Met747Leu) rs1259403735
NM_014874.4(MFN2):c.223G>A (p.Val75Ile)
NM_014874.4(MFN2):c.2240T>G (p.Met747Arg) rs879254059
NM_014874.4(MFN2):c.2243T>G (p.Phe748Cys) rs2100874709
NM_014874.4(MFN2):c.2244del (p.Phe748fs)
NM_014874.4(MFN2):c.2246C>T (p.Thr749Ile)
NM_014874.4(MFN2):c.2249A>C (p.His750Pro) rs1569890311
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
NM_014874.4(MFN2):c.2249_2250del (p.His750fs)
NM_014874.4(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro) rs1639699426
NM_014874.4(MFN2):c.2260C>T (p.Gln754Ter) rs868571112
NM_014874.4(MFN2):c.2269A>C (p.Arg757=) rs1639700136
NM_014874.4(MFN2):c.2270G>C (p.Arg757Thr)
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.22T>C (p.Cys8Arg) rs1342700068
NM_014874.4(MFN2):c.239G>C (p.Gly80Ala) rs139827903
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
NM_014874.4(MFN2):c.245del (p.Leu82fs) rs2100812695
NM_014874.4(MFN2):c.246A>C (p.Leu82=)
NM_014874.4(MFN2):c.248C>G (p.Ser83Cys) rs372451582
NM_014874.4(MFN2):c.249C>G (p.Ser83=)
NM_014874.4(MFN2):c.24C>G (p.Cys8Trp)
NM_014874.4(MFN2):c.254_256dup (p.Val85_Arg86insMet) rs1638738352
NM_014874.4(MFN2):c.262A>C (p.Ile88Leu) rs1569816194
NM_014874.4(MFN2):c.262A>T (p.Ile88Phe) rs1569816194
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr) rs1638739035
NM_014874.4(MFN2):c.264C>G (p.Ile88Met) rs1553141680
NM_014874.4(MFN2):c.264C>T (p.Ile88=) rs1553141680
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.271_274del (p.Val91fs)
NM_014874.4(MFN2):c.273G>A (p.Val91=)
NM_014874.4(MFN2):c.273G>T (p.Val91=)
NM_014874.4(MFN2):c.275T>C (p.Leu92Pro) rs1569816285
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.283A>C (p.Arg95=) rs1060501920
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly) rs1060501920
NM_014874.4(MFN2):c.283_285del (p.Arg95del) rs1638740322
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys) rs1638740596
NM_014874.4(MFN2):c.285G>C (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.285G>T (p.Arg95Ser) rs1553141686
NM_014874.4(MFN2):c.288C>A (p.His96Gln) rs779756767
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
NM_014874.4(MFN2):c.288C>T (p.His96=) rs779756767
NM_014874.4(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.4(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys) rs757982521
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
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.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.312-10T>C
NM_014874.4(MFN2):c.312-16_314del rs2100822209
NM_014874.4(MFN2):c.312-18G>A
NM_014874.4(MFN2):c.312-3T>A
NM_014874.4(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.317G>A (p.Ser106Asn)
NM_014874.4(MFN2):c.318C>G (p.Ser106Arg) rs778937659
NM_014874.4(MFN2):c.319A>G (p.Asn107Asp) rs1569829556
NM_014874.4(MFN2):c.321T>G (p.Asn107Lys) rs1638897505
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg) rs1553142436
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
NM_014874.4(MFN2):c.332C>T (p.Thr111Ile) rs1638898105
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
NM_014874.4(MFN2):c.341A>G (p.Asn114Ser)
NM_014874.4(MFN2):c.347T>C (p.Met116Thr) rs1569829691
NM_014874.4(MFN2):c.349C>G (p.Leu117Val)
NM_014874.4(MFN2):c.351C>T (p.Leu117=) rs1468573342
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
NM_014874.4(MFN2):c.358A>G (p.Lys120Glu)
NM_014874.4(MFN2):c.361del (p.Val121fs)
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.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu) rs1638900244
NM_014874.4(MFN2):c.379G>C (p.Gly127Arg)
NM_014874.4(MFN2):c.382C>A (p.His128Asn) rs2100822486
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.383A>C (p.His128Pro) rs1569829894
NM_014874.4(MFN2):c.384C>G (p.His128Gln) rs770767909
NM_014874.4(MFN2):c.386C>T (p.Thr129Ile) rs1060501919
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
NM_014874.4(MFN2):c.395G>T (p.Cys132Phe)
NM_014874.4(MFN2):c.399C>G (p.Phe133Leu)
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
NM_014874.4(MFN2):c.401T>A (p.Leu134Gln) rs2100822581
NM_014874.4(MFN2):c.403C>T (p.Arg135Trp)
NM_014874.4(MFN2):c.406G>T (p.Val136Leu)
NM_014874.4(MFN2):c.406dup (p.Val136fs) rs759844257
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp) rs2100822641
NM_014874.4(MFN2):c.413G>A (p.Gly138Asp)
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
NM_014874.4(MFN2):c.424C>T (p.His142Tyr)
NM_014874.4(MFN2):c.434T>C (p.Phe145Ser)
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.449G>T (p.Gly150Val) rs1060501918
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu) rs2100822731
NM_014874.4(MFN2):c.459A>G (p.Glu153=)
NM_014874.4(MFN2):c.462G>A (p.Lys154=) rs1255624199
NM_014874.4(MFN2):c.462GAG[1] (p.Arg155del)
NM_014874.4(MFN2):c.462_463delinsTT (p.Lys154_Arg155delinsAsnTrp) rs2100822768
NM_014874.4(MFN2):c.463A>G (p.Arg155Gly)
NM_014874.4(MFN2):c.466A>G (p.Ser156Gly) rs1638905291
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.469G>A (p.Ala157Thr)
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
NM_014874.4(MFN2):c.475-12C>T
NM_014874.4(MFN2):c.475-17C>G
NM_014874.4(MFN2):c.475-1G>C rs1569834500
NM_014874.4(MFN2):c.475-2A>G rs1557522794
NM_014874.4(MFN2):c.475-4T>A
NM_014874.4(MFN2):c.475-4T>G
NM_014874.4(MFN2):c.475-5A>G
NM_014874.4(MFN2):c.475-5_475-2dup
NM_014874.4(MFN2):c.475-7_478del rs2100825988
NM_014874.4(MFN2):c.475A>C (p.Thr159Pro)
NM_014874.4(MFN2):c.479T>C (p.Val160Ala) rs879253861
NM_014874.4(MFN2):c.486G>C (p.Gln162His)
NM_014874.4(MFN2):c.486_494del (p.Gln162_Ala164del)
NM_014874.4(MFN2):c.488T>C (p.Leu163Pro) rs2100826124
NM_014874.4(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.4(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014874.4(MFN2):c.494A>C (p.His165Pro) rs863224970
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.495T>A (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.495T>G (p.His165Gln) rs1569834720
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.504C>T (p.His168=) rs2100826193
NM_014874.4(MFN2):c.505C>T (p.Gln169Ter)
NM_014874.4(MFN2):c.508G>T (p.Asp170Tyr)
NM_014874.4(MFN2):c.510C>T (p.Asp170=) rs2100826208
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro) rs2100826229
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.53A>G (p.Lys18Arg)
NM_014874.4(MFN2):c.548G>T (p.Trp183Leu) rs2100826348
NM_014874.4(MFN2):c.550C>G (p.Pro184Ala) rs1638959309
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.555del (p.Ser186fs)
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.569T>C (p.Leu190Pro) rs1553142726
NM_014874.4(MFN2):c.57A>T (p.Arg19Ser)
NM_014874.4(MFN2):c.592A>C (p.Met198Leu)
NM_014874.4(MFN2):c.592A>T (p.Met198Leu) rs1569835123
NM_014874.4(MFN2):c.597C>G (p.Asp199Glu) rs1205882839
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.5C>T (p.Ser2Phe)
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.601C>T (p.Pro201Ser) rs1639041254
NM_014874.4(MFN2):c.604G>A (p.Gly202Ser)
NM_014874.4(MFN2):c.614T>C (p.Val205Ala) rs1639042915
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly) rs1639043704
NM_014874.4(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser) rs1178355950
NM_014874.4(MFN2):c.650G>T (p.Cys217Phe) rs1569842458
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.656A>G (p.Asp219Gly) rs1569842483
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu) rs878854989
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.661G>A (p.Asp221Asn) rs1569842525
NM_014874.4(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.4(MFN2):c.666G>A (p.Val222=) rs911933291
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu) rs1639045962
NM_014874.4(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.4(MFN2):c.66T>C (p.Ala22=)
NM_014874.4(MFN2):c.674_680del (p.Leu225fs) rs1060501915
NM_014874.4(MFN2):c.675G>A (p.Leu225=)
NM_014874.4(MFN2):c.676G>A (p.Val226Met) rs1569842610
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.688G>A (p.Glu230Lys) rs2100831900
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.690G>T (p.Glu230Asp) rs1569842685
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) rs1569842714
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.694A>C (p.Thr232Pro) rs1553143165
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.4(MFN2):c.700A>C (p.Met234Leu) rs2100831955
NM_014874.4(MFN2):c.700A>G (p.Met234Val) rs2100831955
NM_014874.4(MFN2):c.700A>T (p.Met234Leu)
NM_014874.4(MFN2):c.703C>G (p.Gln235Glu) rs879254210
NM_014874.4(MFN2):c.703C>T (p.Gln235Ter) rs879254210
NM_014874.4(MFN2):c.705G>C (p.Gln235His)
NM_014874.4(MFN2):c.708+10C>T rs1639049020
NM_014874.4(MFN2):c.708+1G>A rs1639048523
NM_014874.4(MFN2):c.708+4A>G
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.708+9del
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.709-11C>A
NM_014874.4(MFN2):c.709-19G>A
NM_014874.4(MFN2):c.711A>C (p.Glu237Asp)
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.718T>G (p.Phe240Val) rs1557525005
NM_014874.4(MFN2):c.720C>A (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
NM_014874.4(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.731T>C (p.Val244Ala) rs1060501921
NM_014874.4(MFN2):c.731T>G (p.Val244Gly) rs1060501921
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp) rs2100832455
NM_014874.4(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.4(MFN2):c.743_744delinsGT (p.Leu248Arg)
NM_014874.4(MFN2):c.744C>G (p.Leu248=) rs61733205
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.747C>T (p.Ser249=)
NM_014874.4(MFN2):c.748del (p.Arg250fs)
NM_014874.4(MFN2):c.750G>A (p.Arg250=) rs1639056984
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser) rs28940295
NM_014874.4(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.4(MFN2):c.752C>T (p.Pro251Leu) rs1557525153
NM_014874.4(MFN2):c.760T>G (p.Phe254Val)
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
NM_014874.4(MFN2):c.768G>A (p.Leu256=) rs2100832631
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser) rs1639058625
NM_014874.4(MFN2):c.775C>A (p.Arg259Ser)
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.776G>T (p.Arg259Leu) rs755065651
NM_014874.4(MFN2):c.779G>A (p.Trp260Ter)
NM_014874.4(MFN2):c.790_791delinsTT (p.Ala264Phe) rs2100832738
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) rs1453267972
NM_014874.4(MFN2):c.808A>C (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.808A>T (p.Met270Leu) rs748318825
NM_014874.4(MFN2):c.813G>C (p.Glu271Asp)
NM_014874.4(MFN2):c.814G>A (p.Glu272Lys) rs1639061149
NM_014874.4(MFN2):c.816+16T>C
NM_014874.4(MFN2):c.816+18G>A rs2100832894
NM_014874.4(MFN2):c.816+5G>A
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.817G>A (p.Val273Met) rs1639165942
NM_014874.4(MFN2):c.817G>T (p.Val273Leu)
NM_014874.4(MFN2):c.818T>A (p.Val273Glu) rs1458700065
NM_014874.4(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.4(MFN2):c.821GGC[3] (p.Arg275_Gln276insArg)
NM_014874.4(MFN2):c.821_826del (p.Arg274_Arg275del)
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.828G>T (p.Gln276His) rs1569851570
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
NM_014874.4(MFN2):c.834G>A (p.Met278Ile) rs1639167341
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.856G>A (p.Val286Met)
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
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.864G>C (p.Glu288Asp) rs1569851796
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
NM_014874.4(MFN2):c.871G>A (p.Val291Met)
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly) rs866604005
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter) rs866604005
NM_014874.4(MFN2):c.881G>A (p.Arg294Gln)
NM_014874.4(MFN2):c.887A>G (p.Gln296Arg)
NM_014874.4(MFN2):c.890C>T (p.Ala297Val)
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
NM_014874.4(MFN2):c.893G>T (p.Gly298Val)
NM_014874.4(MFN2):c.910G>C (p.Val304Leu) rs2100839352
NM_014874.4(MFN2):c.912G>A (p.Val304=)
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) rs1639171448
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr) rs1553143847
NM_014874.4(MFN2):c.919A>G (p.Lys307Glu) rs1639171700
NM_014874.4(MFN2):c.91C>T (p.His31Tyr) rs1553140991
NM_014874.4(MFN2):c.922G>A (p.Glu308Lys) rs1553143852
NM_014874.4(MFN2):c.922G>C (p.Glu308Gln)
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014874.4(MFN2):c.925G>A (p.Val309Met)
NM_014874.4(MFN2):c.927G>C (p.Val309=) rs779947209
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
NM_014874.4(MFN2):c.934G>A (p.Ala312Thr)
NM_014874.4(MFN2):c.93C>G (p.His31Gln)
NM_014874.4(MFN2):c.949G>T (p.Ala317Ser) rs2100839494
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly) rs1639173341
NM_014874.4(MFN2):c.964G>A (p.Glu322Lys) rs1569852256
NM_014874.4(MFN2):c.969A>G (p.Gly323=) rs1639174381
NM_014874.4(MFN2):c.970+1G>T rs1553143890
NM_014874.4(MFN2):c.970+5T>G
NM_014874.4(MFN2):c.970+6G>A
NM_014874.4(MFN2):c.970+8T>C rs2100839593
NM_014874.4(MFN2):c.970+9G>A rs2100839595
NM_014874.4(MFN2):c.971-10A>G
NM_014874.4(MFN2):c.971-3T>A
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.976G>A (p.Ala326Thr) rs1324564667
NM_014874.4(MFN2):c.981C>T (p.Leu327=) rs747677218
NM_014874.4(MFN2):c.982G>T (p.Ala328Ser)
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
NM_014874.4(MFN2):c.997G>A (p.Val333Met) rs1009733171
NM_030973.4(MED25):c.1014A>G (p.Pro338=) rs1034116832
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe) rs1600325791
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.102del (p.Leu35fs) rs2073953986
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
NM_030973.4(MED25):c.1041C>T (p.Val347=) rs1555802298
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
NM_030973.4(MED25):c.105C>G (p.Leu35=)
NM_030973.4(MED25):c.105C>T (p.Leu35=)
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro) rs2123880302
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.1078G>A (p.Ala360Thr)
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly) rs2123880339
NM_030973.4(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.4(MED25):c.107G>T (p.Arg36Leu) rs1555800954
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys)
NM_030973.4(MED25):c.1101+14C>T
NM_030973.4(MED25):c.1101+15G>A
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
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.112C>T (p.His38Tyr)
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp) rs1600326536
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del) rs765219800
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup) rs765219800
NM_030973.4(MED25):c.114C>T (p.His38=) rs2073954243
NM_030973.4(MED25):c.1150C>G (p.Leu384Val) rs1248219304
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg) rs1433808506
NM_030973.4(MED25):c.1176G>A (p.Gln392=)
NM_030973.4(MED25):c.1179G>C (p.Gln393His) rs951202638
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
NM_030973.4(MED25):c.1198C>T (p.Leu400=) rs778576788
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr) rs1219247533
NM_030973.4(MED25):c.1202C>T (p.Ala401Val) rs868663771
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+5G>C rs2074057180
NM_030973.4(MED25):c.1230+6G>A rs2074057196
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.1231-3C>T
NM_030973.4(MED25):c.1231-5dup rs778157941
NM_030973.4(MED25):c.123C>G (p.Leu41=)
NM_030973.4(MED25):c.123C>T (p.Leu41=)
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr) rs771844561
NM_030973.4(MED25):c.1244C>T (p.Ala415Val) rs775141134
NM_030973.4(MED25):c.124C>T (p.Pro42Ser) rs199588409
NM_030973.4(MED25):c.1250T>C (p.Val417Ala) rs2123882109
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.1288C>G (p.Gln430Glu) rs2074060785
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
NM_030973.4(MED25):c.1304A>G (p.His435Arg)
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+1G>A
NM_030973.4(MED25):c.1316+20G>A
NM_030973.4(MED25):c.1316+20G>C rs533964778
NM_030973.4(MED25):c.1316+23del
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.1317-3del rs2074062033
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.1350G>A (p.Met450Ile) rs1568623987
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1374+18G>A
NM_030973.4(MED25):c.1374G>A (p.Leu458=) rs2074062447
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.1391del (p.Leu464fs)
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del) rs2073952891
NM_030973.4(MED25):c.140_144del (p.Phe47fs) rs2123860743
NM_030973.4(MED25):c.1410G>A (p.Met470Ile)
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser) rs2074064545
NM_030973.4(MED25):c.1438del (p.Leu480fs) rs2123882986
NM_030973.4(MED25):c.145G>C (p.Gly49Arg)
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+21dup
NM_030973.4(MED25):c.1482+9A>G rs2123883050
NM_030973.4(MED25):c.1483-13G>A rs886054581
NM_030973.4(MED25):c.1483-5C>G
NM_030973.4(MED25):c.1491C>T (p.Cys497=)
NM_030973.4(MED25):c.1497C>T (p.His499=) rs2074084856
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser) rs2074084894
NM_030973.4(MED25):c.1504del (p.His502fs) rs2123886765
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer) rs775019484
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
NM_030973.4(MED25):c.1526G>A (p.Arg509His) rs1156431468
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.1559A>T (p.Lys520Met) rs2074085416
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs) rs2074085486
NM_030973.4(MED25):c.1567A>T (p.Met523Leu) rs1568625142
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs) rs1239980123
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) rs964471885
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.1615C>G (p.Gln539Glu)
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs) rs770792425
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro) rs2074086161
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg) rs2074086161
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del) rs2123887022
NM_030973.4(MED25):c.1674+17C>T
NM_030973.4(MED25):c.1674+19C>G rs752522
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.1674+8T>A
NM_030973.4(MED25):c.1677G>A (p.Met559Ile) rs369006637
NM_030973.4(MED25):c.1677G>T (p.Met559Ile) rs369006637
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala)
NM_030973.4(MED25):c.1680_1682del (p.Gly561del)
NM_030973.4(MED25):c.1682G>T (p.Gly561Val) rs1474701596
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser)
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs) rs2074089681
NM_030973.4(MED25):c.1702C>T (p.Leu568=)
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro) rs2123887728
NM_030973.4(MED25):c.1704G>A (p.Leu568=) rs1222662917
NM_030973.4(MED25):c.170T>C (p.Phe57Ser) rs2073956256
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
NM_030973.4(MED25):c.1727C>T (p.Ala576Val) rs193291405
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
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.1753C>T (p.Leu585Phe)
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.1763C>T (p.Pro588Leu)
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu) rs1600331179
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu)
NM_030973.4(MED25):c.1788A>G (p.Val596=)
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del) rs764613506
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup) rs764613506
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu) rs1188355950
NM_030973.4(MED25):c.1801del (p.Ala601fs)
NM_030973.4(MED25):c.1805C>T (p.Thr602Met)
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.1812GCCCCA[3] (p.605PQ[3]) rs2074092563
NM_030973.4(MED25):c.1830T>G (p.Thr610=)
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr) rs2074092949
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.1852C>T (p.Pro618Ser) rs777988894
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu) rs1600331387
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys) rs769034498
NM_030973.4(MED25):c.1857A>G (p.Gln619=)
NM_030973.4(MED25):c.1859G>T (p.Gly620Val)
NM_030973.4(MED25):c.186G>C (p.Gly62=)
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser) rs1368000406
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala) rs900142190
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.4(MED25):c.189G>A (p.Gly63=)
NM_030973.4(MED25):c.189dup (p.Thr64fs)
NM_030973.4(MED25):c.1902C>T (p.Ile634=)
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu) rs764747321
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter)
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp) rs776959726
NM_030973.4(MED25):c.1919del (p.Pro640fs) rs1223073957
NM_030973.4(MED25):c.1920T>C (p.Pro640=) rs1600331507
NM_030973.4(MED25):c.192C>A (p.Thr64=)
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe) rs2123888587
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg) rs878855132
NM_030973.4(MED25):c.1953C>T (p.Leu651=) rs2123888595
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser) rs1051416581
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.1967C>T (p.Pro656Leu)
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro) rs1030696258
NM_030973.4(MED25):c.1976G>T (p.Gly659Val)
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala) rs748129176
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr) rs1263091655
NM_030973.4(MED25):c.2028_2030del (p.Ala677del) rs1600331974
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2055C>T (p.Gly685=)
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
NM_030973.4(MED25):c.2061G>A (p.Gly687=) rs751782742
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser) rs1352294152
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs) rs2074097900
NM_030973.4(MED25):c.2070G>C (p.Gln690His)
NM_030973.4(MED25):c.2082A>G (p.Pro694=)
NM_030973.4(MED25):c.2085C>T (p.Leu695=) rs1600332106
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala) rs770600111
NM_030973.4(MED25):c.2099del (p.Pro700fs)
NM_030973.4(MED25):c.20G>T (p.Gly7Val) rs2123860220
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.2132G>A (p.Arg711Gln)
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser)
NM_030973.4(MED25):c.2144dup (p.Gly716fs) rs1568625990
NM_030973.4(MED25):c.2146+13G>A
NM_030973.4(MED25):c.2146+19G>T rs568964675
NM_030973.4(MED25):c.2146+8G>A
NM_030973.4(MED25):c.2146+8del
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.2147-3C>T rs1555803003
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp) rs2074102680
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.2185C>T (p.Pro729Ser) rs536619167
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser) rs1236215092
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter) rs1600332988
NM_030973.4(MED25):c.2220C>T (p.Asp740=)
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu) rs2074103858
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.229G>C (p.Ala77Pro) rs1290551836
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
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.248A>G (p.Gln83Arg) rs2073964192
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
NM_030973.4(MED25):c.273C>T (p.Ala91=) rs1600313252
NM_030973.4(MED25):c.282dup (p.Val95fs) rs1568618345
NM_030973.4(MED25):c.283G>A (p.Val95Ile) rs1475262890
NM_030973.4(MED25):c.287C>G (p.Thr96Ser) rs2123862294
NM_030973.4(MED25):c.288C>G (p.Thr96=) rs2123862300
NM_030973.4(MED25):c.28C>T (p.Arg10Cys)
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.311T>C (p.Met104Thr)
NM_030973.4(MED25):c.316G>C (p.Gly106Arg)
NM_030973.4(MED25):c.320G>C (p.Gly107Ala) rs1448711945
NM_030973.4(MED25):c.320del (p.Gly107fs) rs776360611
NM_030973.4(MED25):c.322G>A (p.Gly108Ser) rs2074030164
NM_030973.4(MED25):c.330C>A (p.Ser110Arg) rs898525772
NM_030973.4(MED25):c.340A>G (p.Ile114Val)
NM_030973.4(MED25):c.342C>A (p.Ile114=)
NM_030973.4(MED25):c.343G>A (p.Ala115Thr) rs1433714797
NM_030973.4(MED25):c.345G>A (p.Ala115=)
NM_030973.4(MED25):c.357C>T (p.Ser119=)
NM_030973.4(MED25):c.367C>A (p.Gln123Lys) rs764968113
NM_030973.4(MED25):c.36G>C (p.Gly12=)
NM_030973.4(MED25):c.372G>C (p.Leu124=) rs765814691
NM_030973.4(MED25):c.377A>T (p.Asp126Val) rs751058652
NM_030973.4(MED25):c.389A>G (p.Lys130Arg)
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys) rs1555801968
NM_030973.4(MED25):c.397G>A (p.Glu133Lys)
NM_030973.4(MED25):c.404+12dup
NM_030973.4(MED25):c.404+4A>C
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.405T>C (p.Ile135=) rs2123876614
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
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.419G>A (p.Arg140Gln) rs748347831
NM_030973.4(MED25):c.421G>C (p.Val141Leu) rs1398290748
NM_030973.4(MED25):c.432C>T (p.Leu144=) rs150534771
NM_030973.4(MED25):c.438C>T (p.Cys146=)
NM_030973.4(MED25):c.439A>C (p.Asn147His) rs2074034296
NM_030973.4(MED25):c.440A>C (p.Asn147Thr) rs575908777
NM_030973.4(MED25):c.440A>G (p.Asn147Ser)
NM_030973.4(MED25):c.449del (p.Pro150fs) rs1600323331
NM_030973.4(MED25):c.459G>T (p.Leu153Phe) rs1461710400
NM_030973.4(MED25):c.475A>G (p.Thr159Ala)
NM_030973.4(MED25):c.48C>T (p.Ala16=)
NM_030973.4(MED25):c.506T>C (p.Leu169Pro) rs2123876804
NM_030973.4(MED25):c.518T>C (p.Ile173Thr) rs781753774
NM_030973.4(MED25):c.520G>A (p.Gly174Arg)
NM_030973.4(MED25):c.525+11C>T
NM_030973.4(MED25):c.525+12A>G
NM_030973.4(MED25):c.525+20_525+34del rs766617168
NM_030973.4(MED25):c.525G>A (p.Glu175=) rs2074035059
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.526-3C>T
NM_030973.4(MED25):c.527G>A (p.Arg176Gln) rs1364981975
NM_030973.4(MED25):c.544A>G (p.Ile182Val) rs1568622523
NM_030973.4(MED25):c.547G>A (p.Val183Met) rs1555802134
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.575G>A (p.Arg192Gln)
NM_030973.4(MED25):c.588G>A (p.Glu196=)
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
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.601C>A (p.Pro201Thr)
NM_030973.4(MED25):c.601C>G (p.Pro201Ala) rs149611039
NM_030973.4(MED25):c.602del (p.Pro201fs) rs748546983
NM_030973.4(MED25):c.602dup (p.Ala202fs) rs748546983
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.61G>A (p.Val21Met) rs2073953656
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.650C>T (p.Pro217Leu)
NM_030973.4(MED25):c.658A>T (p.Met220Leu) rs905166588
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.693_695del (p.Gly233del)
NM_030973.4(MED25):c.6C>T (p.Val2=)
NM_030973.4(MED25):c.703G>A (p.Ala235Thr) rs2074043556
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.740del (p.Leu247fs) rs2074044055
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
NM_030973.4(MED25):c.750C>G (p.Ala250=) rs1397405011
NM_030973.4(MED25):c.750C>T (p.Ala250=)
NM_030973.4(MED25):c.755C>T (p.Pro252Leu) rs2074044376
NM_030973.4(MED25):c.761G>A (p.Gly254Asp) rs2074044441
NM_030973.4(MED25):c.769C>T (p.Leu257Phe)
NM_030973.4(MED25):c.773C>T (p.Ser258Leu) rs950408993
NM_030973.4(MED25):c.774A>G (p.Ser258=)
NM_030973.4(MED25):c.784C>T (p.Gln262Ter) rs2074044739
NM_030973.4(MED25):c.787C>A (p.Gln263Lys)
NM_030973.4(MED25):c.787C>T (p.Gln263Ter) rs765215168
NM_030973.4(MED25):c.78C>T (p.Ala26=)
NM_030973.4(MED25):c.794T>C (p.Leu265Pro)
NM_030973.4(MED25):c.801dup (p.Val268fs) rs775072432
NM_030973.4(MED25):c.804C>T (p.Val268=)
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
NM_030973.4(MED25):c.809C>T (p.Pro270Leu) rs756463606
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.836G>A (p.Ser279Asn)
NM_030973.4(MED25):c.853G>A (p.Ala285Thr) rs1318288681
NM_030973.4(MED25):c.854C>A (p.Ala285Glu) rs191366132
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.906C>A (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.906C>G (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.906C>T (p.Arg302=) rs1182901692
NM_030973.4(MED25):c.908-3_908-2del rs766739944
NM_030973.4(MED25):c.908-6C>A
NM_030973.4(MED25):c.915C>A (p.Pro305=)
NM_030973.4(MED25):c.918C>G (p.Ile306Met) rs1447845181
NM_030973.4(MED25):c.924del (p.Leu309fs) rs2074049374
NM_030973.4(MED25):c.930A>T (p.Gln310His) rs2074049426
NM_030973.4(MED25):c.939T>A (p.Ala313=)
NM_030973.4(MED25):c.945A>C (p.Gly315=) rs2123880035
NM_030973.4(MED25):c.947T>G (p.Val316Gly)
NM_030973.4(MED25):c.955C>T (p.Pro319Ser) rs886357105
NM_030973.4(MED25):c.956C>T (p.Pro319Leu) rs139822988
NM_030973.4(MED25):c.959T>G (p.Phe320Cys) rs2074049850
NM_030973.4(MED25):c.962G>C (p.Ser321Thr) rs377259236
NM_030973.4(MED25):c.965A>G (p.Gln322Arg)
NM_030973.4(MED25):c.969C>T (p.Ala323=)
NM_030973.4(MED25):c.973G>C (p.Ala325Pro)
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
NM_170707.4(LMNA):c.1005G>A (p.Arg335=) rs2102887328
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1009C>T (p.Leu337=)
NM_170707.4(LMNA):c.1013T>A (p.Leu338Gln)
NM_170707.4(LMNA):c.1016C>T (p.Ala339Val) rs756538414
NM_170707.4(LMNA):c.1024G>A (p.Glu342Lys) rs1651558432
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.1030del (p.Glu344fs) rs1572362885
NM_170707.4(LMNA):c.1032G>A (p.Glu344=)
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
NM_170707.4(LMNA):c.1039G>A (p.Glu347Lys) rs267607548
NM_170707.4(LMNA):c.103C>T (p.Leu35=)
NM_170707.4(LMNA):c.1040A>C (p.Glu347Ala) rs1449688220
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly) rs1449688220
NM_170707.4(LMNA):c.1046G>A (p.Arg349Gln)
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1048G>C (p.Ala350Pro) rs267607610
NM_170707.4(LMNA):c.1049C>T (p.Ala350Val)
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1050A>G (p.Ala350=)
NM_170707.4(LMNA):c.1051A>G (p.Arg351Gly) rs771623461
NM_170707.4(LMNA):c.1055T>C (p.Met352Thr)
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) rs267607623
NM_170707.4(LMNA):c.1058A>G (p.Gln353Arg)
NM_170707.4(LMNA):c.1058AGC[2] (p.Gln355del) rs267607635
NM_170707.4(LMNA):c.1060C>T (p.Gln354Ter) rs1651564707
NM_170707.4(LMNA):c.1061A>G (p.Gln354Arg) rs1651565056
NM_170707.4(LMNA):c.1062G>A (p.Gln354=)
NM_170707.4(LMNA):c.1063C>A (p.Gln355Lys)
NM_170707.4(LMNA):c.1063C>G (p.Gln355Glu) rs267607617
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1068G>A (p.Leu356=)
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn) rs267607567
NM_170707.4(LMNA):c.1069G>C (p.Asp357His) rs267607567
NM_170707.4(LMNA):c.1069G>T (p.Asp357Tyr) rs267607567
NM_170707.4(LMNA):c.1071C>A (p.Asp357Glu) rs376875762
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1077C>T (p.Tyr359=) rs1651568187
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1081G>C (p.Glu361Gln) rs267607634
NM_170707.4(LMNA):c.1086_1088del (p.Leu363del) rs2102887987
NM_170707.4(LMNA):c.1088T>A (p.Leu363Gln)
NM_170707.4(LMNA):c.1089G>A (p.Leu363=)
NM_170707.4(LMNA):c.1089_1114dup (p.Glu372fs)
NM_170707.4(LMNA):c.108G>T (p.Gln36His) rs2102817523
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn) rs878855231
NM_170707.4(LMNA):c.1094T>C (p.Ile365Thr)
NM_170707.4(LMNA):c.1095C>A (p.Ile365=)
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys) rs1354642495
NM_170707.4(LMNA):c.10C>G (p.Pro4Ala)
NM_170707.4(LMNA):c.10C>T (p.Pro4Ser) rs1477323839
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1108G>A (p.Asp370Asn) rs2102888147
NM_170707.4(LMNA):c.110A>G (p.Glu37Gly)
NM_170707.4(LMNA):c.1110C>A (p.Asp370Glu)
NM_170707.4(LMNA):c.1111A>G (p.Met371Val) rs1270221130
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1113G>C (p.Met371Ile)
NM_170707.4(LMNA):c.1114G>A (p.Glu372Lys) rs1553265733
NM_170707.4(LMNA):c.1114del (p.Glu372fs) rs267607575
NM_170707.4(LMNA):c.1115A>G (p.Glu372Gly) rs2102888292
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val) rs2102888292
NM_170707.4(LMNA):c.1116G>A (p.Glu372=) rs1553265736
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser) rs1060502214
NM_170707.4(LMNA):c.1119C>G (p.Ile373Met) rs1340894696
NM_170707.4(LMNA):c.1119C>T (p.Ile373=)
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr) rs879254162
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser) rs879254162
NM_170707.4(LMNA):c.1124C>A (p.Ala375Asp) rs886042239
NM_170707.4(LMNA):c.1124C>G (p.Ala375Gly)
NM_170707.4(LMNA):c.112C>G (p.Leu38Val) rs2102817550
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe) rs2102817550
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1136T>C (p.Leu379Pro)
NM_170707.4(LMNA):c.1138T>A (p.Leu380Met)
NM_170707.4(LMNA):c.1141G>A (p.Glu381Lys) rs2102888548
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1142del (p.Glu381fs) rs1553265760
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1146_1153del (p.Glu384fs)
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys) rs1651580090
NM_170707.4(LMNA):c.1149G>T (p.Glu383Asp) rs267607603
NM_170707.4(LMNA):c.1150G>A (p.Glu384Lys) rs2102888695
NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly) rs1572363397
NM_170707.4(LMNA):c.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+1G>A rs267607590
NM_170707.4(LMNA):c.1157+1G>T rs267607590
NM_170707.4(LMNA):c.1157+22G>A
NM_170707.4(LMNA):c.1157+30G>A
NM_170707.4(LMNA):c.1157+3G>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.1157G>A (p.Arg386Lys) rs267607545
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.1158-1G>T rs1651598289
NM_170707.4(LMNA):c.1158-3C>T rs727503136
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.1158G>A (p.Arg386=) rs879253933
NM_170707.4(LMNA):c.1158G>C (p.Arg386Ser) rs879253933
NM_170707.4(LMNA):c.1158G>T (p.Arg386Ser) rs879253933
NM_170707.4(LMNA):c.115A>C (p.Asn39His) rs267607627
NM_170707.4(LMNA):c.115A>G (p.Asn39Asp)
NM_170707.4(LMNA):c.1160T>A (p.Leu387Gln)
NM_170707.4(LMNA):c.1160T>C (p.Leu387Pro) rs879253934
NM_170707.4(LMNA):c.1161_1178dup (p.Arg388_Pro393dup) rs1553265793
NM_170707.4(LMNA):c.1162C>T (p.Arg388Cys) rs58133342
NM_170707.4(LMNA):c.1165C>T (p.Leu389=)
NM_170707.4(LMNA):c.1167G>A (p.Leu389=)
NM_170707.4(LMNA):c.1169C>T (p.Ser390Phe)
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.116A>T (p.Asn39Ile) rs57983345
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.117T>A (p.Asn39Lys)
NM_170707.4(LMNA):c.1181C>T (p.Thr394Ile) rs757887400
NM_170707.4(LMNA):c.1182C>G (p.Thr394=)
NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter) rs267607561
NM_170707.4(LMNA):c.1185G>T (p.Ser395=) rs397517890
NM_170707.4(LMNA):c.118G>A (p.Asp40Asn)
NM_170707.4(LMNA):c.118G>C (p.Asp40His)
NM_170707.4(LMNA):c.1193G>C (p.Ser398Thr)
NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)
NM_170707.4(LMNA):c.1197T>C (p.Arg399=)
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1199G>A (p.Gly400Asp) rs1651608363
NM_170707.4(LMNA):c.11C>A (p.Pro4Gln) rs267607620
NM_170707.4(LMNA):c.11C>G (p.Pro4Arg) rs267607620
NM_170707.4(LMNA):c.11dup (p.Ser5fs) rs1572331707
NM_170707.4(LMNA):c.1203T>G (p.Arg401=)
NM_170707.4(LMNA):c.1209C>T (p.Ser403=) rs776975256
NM_170707.4(LMNA):c.1214del (p.His405fs)
NM_170707.4(LMNA):c.1215C>T (p.His405=)
NM_170707.4(LMNA):c.1215_1218del (p.Ser406fs)
NM_170707.4(LMNA):c.1218A>G (p.Ser406=) rs1651612863
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser) rs1572332164
NM_170707.4(LMNA):c.121C>T (p.Arg41Cys)
NM_170707.4(LMNA):c.1220C>A (p.Ser407Tyr)
NM_170707.4(LMNA):c.1220C>T (p.Ser407Phe)
NM_170707.4(LMNA):c.1225A>C (p.Thr409Pro)
NM_170707.4(LMNA):c.1227A>T (p.Thr409=)
NM_170707.4(LMNA):c.1229A>T (p.Gln410Leu)
NM_170707.4(LMNA):c.1229_1230del (p.Gln410fs)
NM_170707.4(LMNA):c.122G>A (p.Arg41His) rs1060502215
NM_170707.4(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.4(LMNA):c.1232del (p.Gly411fs) rs2102889960
NM_170707.4(LMNA):c.1232dup (p.Gly412fs) rs2102889960
NM_170707.4(LMNA):c.1234G>A (p.Gly412Arg) rs966050612
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1236G>A (p.Gly412=) rs763537103
NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1238G>A (p.Gly413Asp) rs1350031185
NM_170707.4(LMNA):c.1238del (p.Gly413fs) rs2102890051
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
NM_170707.4(LMNA):c.1241G>A (p.Ser414Asn)
NM_170707.4(LMNA):c.1242C>T (p.Ser414=) rs184946451
NM_170707.4(LMNA):c.1244T>C (p.Val415Ala)
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile) rs752367284
NM_170707.4(LMNA):c.1248del (p.Lys418fs) rs2102890220
NM_170707.4(LMNA):c.124T>C (p.Leu42=)
NM_170707.4(LMNA):c.1253del (p.Lys418fs) rs2102890245
NM_170707.4(LMNA):c.1254G>A (p.Lys418=) rs2102890270
NM_170707.4(LMNA):c.1256G>C (p.Arg419Pro) rs777648901
NM_170707.4(LMNA):c.1257C>T (p.Arg419=)
NM_170707.4(LMNA):c.125T>C (p.Leu42Ser) rs2102817644
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs) rs1572364243
NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter) rs1448275854
NM_170707.4(LMNA):c.1271C>G (p.Thr424Ser) rs2102890444
NM_170707.4(LMNA):c.1271C>T (p.Thr424Ile)
NM_170707.4(LMNA):c.1272T>C (p.Thr424=)
NM_170707.4(LMNA):c.1274A>G (p.Glu425Gly)
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs) rs1553265865
NM_170707.4(LMNA):c.1278C>T (p.Ser426=)
NM_170707.4(LMNA):c.1279C>G (p.Arg427Gly)
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1289T>G (p.Phe430Cys)
NM_170707.4(LMNA):c.128C>A (p.Ala43Glu) rs2102817667
NM_170707.4(LMNA):c.1292C>T (p.Ser431Leu) rs1651629810
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.129G>C (p.Ala43=)
NM_170707.4(LMNA):c.12G>C (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1302A>G (p.Ala434=)
NM_170707.4(LMNA):c.1304_1307del (p.Arg435fs)
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1305C>T (p.Arg435=)
NM_170707.4(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg) rs766932100
NM_170707.4(LMNA):c.1314G>T (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1315dup (p.Arg439fs)
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
NM_170707.4(LMNA):c.1316_1322del (p.Arg439fs)
NM_170707.4(LMNA):c.1317C>T (p.Arg439=) rs374804871
NM_170707.4(LMNA):c.1321del (p.Ala441fs) rs2102890974
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.1324G>C (p.Val442Leu) rs368542816
NM_170707.4(LMNA):c.1324G>T (p.Val442Leu)
NM_170707.4(LMNA):c.1325T>C (p.Val442Ala) rs2102891062
NM_170707.4(LMNA):c.132C>T (p.Val44=) rs762049172
NM_170707.4(LMNA):c.1330G>A (p.Glu444Lys)
NM_170707.4(LMNA):c.1332G>C (p.Glu444Asp)
NM_170707.4(LMNA):c.1334_1342dup (p.Val445_Glu447dup) rs1651638404
NM_170707.4(LMNA):c.1335G>A (p.Val445=)
NM_170707.4(LMNA):c.1336G>A (p.Asp446Asn)
NM_170707.4(LMNA):c.1337A>G (p.Asp446Gly) rs58541611
NM_170707.4(LMNA):c.1337A>T (p.Asp446Val) rs58541611
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.133T>C (p.Tyr45His) rs1649714371
NM_170707.4(LMNA):c.1342G>T (p.Glu448Ter) rs2102891243
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) rs267607637
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1350G>A (p.Lys450=) rs2102891265
NM_170707.4(LMNA):c.1350G>C (p.Lys450Asn)
NM_170707.4(LMNA):c.1354G>T (p.Val452Phe) rs2102891279
NM_170707.4(LMNA):c.1355T>C (p.Val452Ala) rs2102891292
NM_170707.4(LMNA):c.1355T>G (p.Val452Gly)
NM_170707.4(LMNA):c.1356C>A (p.Val452=) rs1572364681
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro) rs267607598
NM_170707.4(LMNA):c.1359G>A (p.Arg453=) rs1321318572
NM_170707.4(LMNA):c.135C>G (p.Tyr45Ter) rs2102817698
NM_170707.4(LMNA):c.1361T>C (p.Leu454Pro) rs267607638
NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro) rs267607597
NM_170707.4(LMNA):c.1365CAA[1] (p.Asn456del) rs267607550
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.1366A>T (p.Asn456Tyr) rs267607599
NM_170707.4(LMNA):c.1367A>C (p.Asn456Thr)
NM_170707.4(LMNA):c.1367A>G (p.Asn456Ser)
NM_170707.4(LMNA):c.1368C>G (p.Asn456Lys) rs61235244
NM_170707.4(LMNA):c.136A>C (p.Ile46Leu) rs267607615
NM_170707.4(LMNA):c.136A>G (p.Ile46Val) rs267607615
NM_170707.4(LMNA):c.1374C>T (p.Ser458=) rs1572364784
NM_170707.4(LMNA):c.1377T>C (p.Asn459=)
NM_170707.4(LMNA):c.1377dup (p.Glu460Ter) rs2102891579
NM_170707.4(LMNA):c.137T>A (p.Ile46Asn) rs1060502213
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+1G>A rs267607552
NM_170707.4(LMNA):c.1380+2T>G rs1553265924
NM_170707.4(LMNA):c.1380+3A>G rs1487175603
NM_170707.4(LMNA):c.1380+5G>C
NM_170707.4(LMNA):c.1380+9C>T
NM_170707.4(LMNA):c.1380G>A (p.Glu460=) rs2102891597
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>A rs371635492
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.1391T>C (p.Met464Thr) rs1281896947
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1397A>C (p.Asn466Thr) rs1159123077
NM_170707.4(LMNA):c.1397del (p.Asn466fs) rs58100028
NM_170707.4(LMNA):c.1398T>C (p.Asn466=)
NM_170707.4(LMNA):c.1399T>A (p.Trp467Arg) rs267607639
NM_170707.4(LMNA):c.139G>C (p.Asp47His) rs267607608
NM_170707.4(LMNA):c.13del (p.Ser5fs) rs1649695841
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.4(LMNA):c.1407C>A (p.Ile469=) rs1471045711
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1413C>A (p.Arg471=)
NM_170707.4(LMNA):c.1413C>G (p.Arg471=) rs1572365626
NM_170707.4(LMNA):c.1414C>T (p.Gln472Ter) rs2102893828
NM_170707.4(LMNA):c.1417_1438dup (p.Thr480delinsLysTrpArgTer)
NM_170707.4(LMNA):c.141C>T (p.Asp47=) rs1649715628
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu) rs267607579
NM_170707.4(LMNA):c.1423G>A (p.Asp475Asn)
NM_170707.4(LMNA):c.1424A>G (p.Asp475Gly) rs1651695560
NM_170707.4(LMNA):c.1426G>A (p.Asp476Asn)
NM_170707.4(LMNA):c.1436del (p.Leu479fs) rs1553266024
NM_170707.4(LMNA):c.143G>A (p.Arg48His)
NM_170707.4(LMNA):c.143G>C (p.Arg48Pro) rs1572332235
NM_170707.4(LMNA):c.143G>T (p.Arg48Leu) rs1572332235
NM_170707.4(LMNA):c.1442A>G (p.Tyr481Cys) rs397517893
NM_170707.4(LMNA):c.1444C>G (p.Arg482Gly) rs57920071
NM_170707.4(LMNA):c.1447T>G (p.Phe483Val) rs1651699171
NM_170707.4(LMNA):c.1453C>A (p.Pro485Thr)
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.1459T>C (p.Phe487Leu) rs1651700215
NM_170707.4(LMNA):c.1463C>A (p.Thr488Asn)
NM_170707.4(LMNA):c.1463C>T (p.Thr488Ile) rs2102894189
NM_170707.4(LMNA):c.1466T>G (p.Leu489Arg) rs1558132909
NM_170707.4(LMNA):c.1469A>G (p.Lys490Arg)
NM_170707.4(LMNA):c.1471G>A (p.Ala491Thr)
NM_170707.4(LMNA):c.1473del (p.Gln493fs)
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg) rs373480082
NM_170707.4(LMNA):c.1478A>C (p.Gln493Pro) rs1553266048
NM_170707.4(LMNA):c.1480G>A (p.Val494Met)
NM_170707.4(LMNA):c.1488+12G>C
NM_170707.4(LMNA):c.1488+17T>C
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1488+1G>T rs267607640
NM_170707.4(LMNA):c.1488+3G>A rs2102894426
NM_170707.4(LMNA):c.1488+5G>C rs267607543
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.1489-2A>G rs879254081
NM_170707.4(LMNA):c.1489-8C>T
NM_170707.4(LMNA):c.148C>G (p.Arg50Gly)
NM_170707.4(LMNA):c.1491C>G (p.Ile497Met)
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.4(LMNA):c.1495G>A (p.Ala499Thr)
NM_170707.4(LMNA):c.1496C>A (p.Ala499Asp) rs2102894911
NM_170707.4(LMNA):c.1497T>A (p.Ala499=) rs1431212733
NM_170707.4(LMNA):c.149G>T (p.Arg50Leu) rs60695352
NM_170707.4(LMNA):c.1500A>G (p.Ala500=) rs2102894981
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
NM_170707.4(LMNA):c.1505C>G (p.Ala502Gly)
NM_170707.4(LMNA):c.1508G>A (p.Gly503Glu)
NM_170707.4(LMNA):c.1510G>A (p.Ala504Thr)
NM_170707.4(LMNA):c.1510del (p.Ala504fs) rs1572366216
NM_170707.4(LMNA):c.1516del (p.His506fs) rs1558133157
NM_170707.4(LMNA):c.151T>C (p.Ser51Pro) rs1649717627
NM_170707.4(LMNA):c.1521C>A (p.Ser507Arg)
NM_170707.4(LMNA):c.1523C>A (p.Pro508His) rs1164522299
NM_170707.4(LMNA):c.1523C>T (p.Pro508Leu) rs1164522299
NM_170707.4(LMNA):c.1524C>A (p.Pro508=)
NM_170707.4(LMNA):c.1525C>A (p.Pro509Thr) rs762847359
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser) rs762847359
NM_170707.4(LMNA):c.1526del (p.Pro509fs) rs58013325
NM_170707.4(LMNA):c.1526dup (p.Thr510fs) rs58013325
NM_170707.4(LMNA):c.1527del (p.Thr510fs)
NM_170707.4(LMNA):c.152C>G (p.Ser51Trp)
NM_170707.4(LMNA):c.152C>T (p.Ser51Leu) rs1366035491
NM_170707.4(LMNA):c.1530C>A (p.Thr510=)
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn) rs759408439
NM_170707.4(LMNA):c.1533C>A (p.Asp511Glu)
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.1537G>T (p.Val513Leu)
NM_170707.4(LMNA):c.1539G>A (p.Val513=) rs2102895431
NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter) rs1572366412
NM_170707.4(LMNA):c.1542G>A (p.Trp514Ter) rs2102895466
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr) rs1383314305
NM_170707.4(LMNA):c.1546del (p.Ala516fs)
NM_170707.4(LMNA):c.1547C>T (p.Ala516Val)
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1551_1587dup (p.Leu530fs) rs2102895541
NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp) rs757733890
NM_170707.4(LMNA):c.1558T>A (p.Trp520Arg) rs267607557
NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) rs267607557
NM_170707.4(LMNA):c.1560G>T (p.Trp520Cys)
NM_170707.4(LMNA):c.1565G>A (p.Cys522Tyr) rs1553266145
NM_170707.4(LMNA):c.1575C>A (p.Ser525Arg)
NM_170707.4(LMNA):c.1578G>T (p.Leu526=) rs1205674172
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu) rs57520892
NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs) rs1572366593
NM_170707.4(LMNA):c.1580dup (p.Thr528fs)
NM_170707.4(LMNA):c.1582_1583del (p.Thr528fs)
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1584G>C (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1585G>C (p.Ala529Pro)
NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe) rs1558133435
NM_170707.4(LMNA):c.1587_1590dup (p.Ile531fs) rs2102896007
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) rs60290646
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.1599del (p.Thr534fs)
NM_170707.4(LMNA):c.15C>T (p.Ser5=) rs1572331734
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala) rs1311820114
NM_170707.4(LMNA):c.1602T>C (p.Thr534=) rs781763410
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg) rs1304542176
NM_170707.4(LMNA):c.1606del (p.Glu536fs) rs1651736894
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.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1608+2T>G rs2102896324
NM_170707.4(LMNA):c.1608+4A>G
NM_170707.4(LMNA):c.1609-16T>C
NM_170707.4(LMNA):c.1609-19G>A
NM_170707.4(LMNA):c.1609-19G>C
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-2A>G
NM_170707.4(LMNA):c.1609-3C>G rs267607581
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.1610A>C (p.Glu537Ala)
NM_170707.4(LMNA):c.1613T>C (p.Val538Ala) rs766555060
NM_170707.4(LMNA):c.1616C>T (p.Ala539Val) rs1651778506
NM_170707.4(LMNA):c.1617C>G (p.Ala539=) rs1326511337
NM_170707.4(LMNA):c.1619T>A (p.Met540Lys)
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)
NM_170707.4(LMNA):c.1627C>T (p.Leu543=)
NM_170707.4(LMNA):c.1628T>C (p.Leu543Pro) rs886042329
NM_170707.4(LMNA):c.162G>A (p.Thr54=) rs1649719337
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) rs879253932
NM_170707.4(LMNA):c.1630G>A (p.Val544Met)
NM_170707.4(LMNA):c.1631T>C (p.Val544Ala)
NM_170707.4(LMNA):c.1632G>A (p.Val544=)
NM_170707.4(LMNA):c.1634G>T (p.Arg545Leu)
NM_170707.4(LMNA):c.163G>T (p.Glu55Ter) rs1649719689
NM_170707.4(LMNA):c.1640T>C (p.Val547Ala) rs1651784382
NM_170707.4(LMNA):c.1644T>G (p.Thr548=) rs2102898288
NM_170707.4(LMNA):c.1645G>C (p.Val549Leu)
NM_170707.4(LMNA):c.1646T>C (p.Val549Ala)
NM_170707.4(LMNA):c.1654G>A (p.Asp552Asn) rs2102898356
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1657dup (p.Asp553fs) rs1572367812
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1660del (p.Glu554fs)
NM_170707.4(LMNA):c.1666G>A (p.Glu556Lys)
NM_170707.4(LMNA):c.1669G>A (p.Asp557Asn)
NM_170707.4(LMNA):c.1669G>C (p.Asp557His) rs1651789592
NM_170707.4(LMNA):c.1670A>G (p.Asp557Gly) rs1651789945
NM_170707.4(LMNA):c.1685T>A (p.Leu562His) rs1057156731
NM_170707.4(LMNA):c.1687C>T (p.His563Tyr)
NM_170707.4(LMNA):c.1688A>G (p.His563Arg) rs1651792356
NM_170707.4(LMNA):c.1690C>T (p.His564Tyr)
NM_170707.4(LMNA):c.1692C>A (p.His564Gln) rs1215740582
NM_170707.4(LMNA):c.1693C>G (p.His565Asp)
NM_170707.4(LMNA):c.1696C>A (p.His566Asn)
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
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.16del (p.Gln6fs) rs1649696391
NM_170707.4(LMNA):c.1700G>A (p.Gly567Asp)
NM_170707.4(LMNA):c.1701C>T (p.Gly567=) rs1174456476
NM_170707.4(LMNA):c.1703C>G (p.Ser568Cys) rs1651856057
NM_170707.4(LMNA):c.1714del (p.Ser572fs)
NM_170707.4(LMNA):c.1720G>A (p.Gly574Arg)
NM_170707.4(LMNA):c.1721G>T (p.Gly574Val)
NM_170707.4(LMNA):c.1722G>A (p.Gly574=)
NM_170707.4(LMNA):c.1723G>A (p.Asp575Asn)
NM_170707.4(LMNA):c.1725C>T (p.Asp575=)
NM_170707.4(LMNA):c.1726C>T (p.Pro576Ser) rs2102901156
NM_170707.4(LMNA):c.172G>A (p.Gly58Arg)
NM_170707.4(LMNA):c.1737C>T (p.Tyr579=)
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) rs59601651
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1750C>A (p.Arg584Ser)
NM_170707.4(LMNA):c.1758G>A (p.Val586=) rs2102901371
NM_170707.4(LMNA):c.1759C>A (p.Leu587Met)
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.176T>A (p.Leu59Gln)
NM_170707.4(LMNA):c.1770C>G (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1772G>A (p.Cys591Tyr) rs267607556
NM_170707.4(LMNA):c.1772G>T (p.Cys591Phe) rs267607556
NM_170707.4(LMNA):c.1775_1786dup (p.Gly592_Ala595dup) rs2102901536
NM_170707.4(LMNA):c.1778A>G (p.Gln593Arg) rs1164745437
NM_170707.4(LMNA):c.1784C>G (p.Ala595Gly)
NM_170707.4(LMNA):c.1785C>G (p.Ala595=)
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del) rs2102901580
NM_170707.4(LMNA):c.1788C>T (p.Asp596=)
NM_170707.4(LMNA):c.1789A>G (p.Lys597Glu)
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.1791G>C (p.Lys597Asn)
NM_170707.4(LMNA):c.1791G>T (p.Lys597Asn)
NM_170707.4(LMNA):c.1793C>G (p.Ala598Gly) rs774494686
NM_170707.4(LMNA):c.1793C>T (p.Ala598Val) rs774494686
NM_170707.4(LMNA):c.1794A>G (p.Ala598=)
NM_170707.4(LMNA):c.1796C>G (p.Ser599Cys) rs2102901662
NM_170707.4(LMNA):c.1799C>T (p.Ala600Val) rs1290479309
NM_170707.4(LMNA):c.179G>A (p.Arg60His)
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
NM_170707.4(LMNA):c.1809A>G (p.Ser603=) rs2102901712
NM_170707.4(LMNA):c.1811G>A (p.Gly604Glu) rs1651865626
NM_170707.4(LMNA):c.1812A>G (p.Gly604=) rs775835223
NM_170707.4(LMNA):c.1812_1823del (p.Ala605_Gly608del)
NM_170707.4(LMNA):c.1813G>T (p.Ala605Ser) rs2102901753
NM_170707.4(LMNA):c.1814C>A (p.Ala605Asp)
NM_170707.4(LMNA):c.1815C>A (p.Ala605=) rs2102901765
NM_170707.4(LMNA):c.1817A>G (p.Gln606Arg) rs1651866656
NM_170707.4(LMNA):c.1818G>A (p.Gln606=) rs1060504514
NM_170707.4(LMNA):c.1819del (p.Val607fs) rs1064796394
NM_170707.4(LMNA):c.1824C>A (p.Gly608=)
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
NM_170707.4(LMNA):c.1827A>T (p.Gly609=) rs1558135172
NM_170707.4(LMNA):c.182T>C (p.Leu61Pro) rs1553261932
NM_170707.4(LMNA):c.1835C>T (p.Ser612Phe) rs1651868666
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro) rs147627124
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.184C>T (p.Arg62Cys) rs56793579
NM_170707.4(LMNA):c.1854C>T (p.Ser618=)
NM_170707.4(LMNA):c.1855A>C (p.Ser619Arg) rs1651869846
NM_170707.4(LMNA):c.185G>T (p.Arg62Leu) rs1649721643
NM_170707.4(LMNA):c.1863G>C (p.Thr621=)
NM_170707.4(LMNA):c.1864del (p.Val622fs)
NM_170707.4(LMNA):c.186dup (p.Ile63fs) rs2102818068
NM_170707.4(LMNA):c.1870C>A (p.Arg624Ser)
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys) rs398124550
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1876dup (p.Tyr626fs)
NM_170707.4(LMNA):c.1880G>C (p.Arg627Pro) rs745997478
NM_170707.4(LMNA):c.1882A>G (p.Ser628Gly)
NM_170707.4(LMNA):c.1883G>A (p.Ser628Asn)
NM_170707.4(LMNA):c.1884T>C (p.Ser628=)
NM_170707.4(LMNA):c.1885G>A (p.Val629Met) rs1288315740
NM_170707.4(LMNA):c.1886T>G (p.Val629Gly)
NM_170707.4(LMNA):c.1887G>T (p.Val629=)
NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)
NM_170707.4(LMNA):c.1890G>C (p.Gly630=) rs770389147
NM_170707.4(LMNA):c.1892G>C (p.Gly631Ala) rs267607648
NM_170707.4(LMNA):c.1893C>A (p.Gly631=) rs2102902282
NM_170707.4(LMNA):c.1894A>G (p.Ser632Gly)
NM_170707.4(LMNA):c.1895G>A (p.Ser632Asn)
NM_170707.4(LMNA):c.1896dup (p.Gly633fs)
NM_170707.4(LMNA):c.1897G>A (p.Gly633Arg)
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.1900G>A (p.Gly634Ser) rs879254188
NM_170707.4(LMNA):c.1900G>T (p.Gly634Cys)
NM_170707.4(LMNA):c.1901G>T (p.Gly634Val) rs1470825986
NM_170707.4(LMNA):c.1902T>C (p.Gly634=) rs1572369763
NM_170707.4(LMNA):c.1907G>A (p.Ser636Asn) rs2102902387
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu) rs117939448
NM_170707.4(LMNA):c.1916A>G (p.Asp639Gly) rs1572369800
NM_170707.4(LMNA):c.1917C>A (p.Asp639Glu) rs1558135357
NM_170707.4(LMNA):c.1918A>G (p.Asn640Asp)
NM_170707.4(LMNA):c.1920T>A (p.Asn640Lys) rs2102902482
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.1924G>T (p.Val642Phe)
NM_170707.4(LMNA):c.1926C>T (p.Val642=)
NM_170707.4(LMNA):c.1928C>T (p.Thr643Ile) rs777900936
NM_170707.4(LMNA):c.1934C>T (p.Ser645Phe) rs2102902562
NM_170707.4(LMNA):c.1935C>T (p.Ser645=)
NM_170707.4(LMNA):c.193G>A (p.Glu65Lys)
NM_170707.4(LMNA):c.1941C>T (p.Leu647=) rs984562109
NM_170707.4(LMNA):c.1945G>A (p.Gly649Ser)
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser) rs775728847
NM_170707.4(LMNA):c.194A>G (p.Glu65Gly) rs2102818172
NM_170707.4(LMNA):c.194A>T (p.Glu65Val)
NM_170707.4(LMNA):c.1957C>T (p.Pro653Ser) rs2102902626
NM_170707.4(LMNA):c.195G>A (p.Glu65=)
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.1964C>G (p.Thr655Ser)
NM_170707.4(LMNA):c.1965C>G (p.Thr655=)
NM_170707.4(LMNA):c.1965C>T (p.Thr655=)
NM_170707.4(LMNA):c.1968+18dup rs554157057
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.1969-1G>A
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
NM_170707.4(LMNA):c.1969-8T>C
NM_170707.4(LMNA):c.1970G>A (p.Ser657Asn) rs1651905151
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.1971C>T (p.Ser657=) rs1023544978
NM_170707.4(LMNA):c.1984A>G (p.Ser662Gly)
NM_170707.4(LMNA):c.1985G>A (p.Ser662Asn)
NM_170707.4(LMNA):c.1987A>T (p.Ile663Phe)
NM_170707.4(LMNA):c.1988T>G (p.Ile663Ser)
NM_170707.4(LMNA):c.1990A>C (p.Met664Leu)
NM_170707.4(LMNA):c.1990A>T (p.Met664Leu) rs748348868
NM_170707.4(LMNA):c.1991T>G (p.Met664Arg)
NM_170707.4(LMNA):c.1995A>G (p.Ter665=)
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp) rs1397676761
NM_170707.4(LMNA):c.1A>T (p.Met1Leu) rs2102816719
NM_170707.4(LMNA):c.200A>G (p.Glu67Gly) rs1649724739
NM_170707.4(LMNA):c.203A>T (p.Glu68Val) rs2102818240
NM_170707.4(LMNA):c.204G>A (p.Glu68=)
NM_170707.4(LMNA):c.205del (p.Val69fs)
NM_170707.4(LMNA):c.207G>A (p.Val69=)
NM_170707.4(LMNA):c.208G>A (p.Val70Ile)
NM_170707.4(LMNA):c.208del (p.Val70fs)
NM_170707.4(LMNA):c.210C>A (p.Val70=)
NM_170707.4(LMNA):c.210del (p.Ser71fs) rs1649726768
NM_170707.4(LMNA):c.212G>C (p.Ser71Thr)
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
NM_170707.4(LMNA):c.214C>T (p.Arg72Cys) rs17847247
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.217G>T (p.Glu73Ter) rs1649727816
NM_170707.4(LMNA):c.217_239del (p.Glu73fs)
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
NM_170707.4(LMNA):c.21G>C (p.Arg7=) rs2102816901
NM_170707.4(LMNA):c.224C>A (p.Ser75Tyr)
NM_170707.4(LMNA):c.224C>T (p.Ser75Phe) rs879253975
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser) rs745651340
NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)
NM_170707.4(LMNA):c.22C>G (p.Arg8Gly) rs1649697783
NM_170707.4(LMNA):c.22C>T (p.Arg8Cys) rs1649697783
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr) rs876657850
NM_170707.4(LMNA):c.230T>G (p.Ile77Ser) rs876657850
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) rs876657851
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn) rs727505038
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp) rs1553261972
NM_170707.4(LMNA):c.238G>A (p.Ala80Thr)
NM_170707.4(LMNA):c.238G>C (p.Ala80Pro) rs2102818446
NM_170707.4(LMNA):c.239_256del (p.Ala80_Leu85del) rs1649729767
NM_170707.4(LMNA):c.241T>C (p.Tyr81His) rs1553261977
NM_170707.4(LMNA):c.241dup (p.Tyr81fs)
NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys) rs879254319
NM_170707.4(LMNA):c.243C>T (p.Tyr81=) rs2102818502
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.245A>G (p.Glu82Gly)
NM_170707.4(LMNA):c.248_251dup (p.Glu84fs) rs1553261982
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.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.250G>T (p.Glu84Ter)
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp) rs794728586
NM_170707.4(LMNA):c.254T>A (p.Leu85His) rs28933090
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
NM_170707.4(LMNA):c.261T>C (p.Asp87=) rs397517900
NM_170707.4(LMNA):c.265C>G (p.Arg89Gly) rs267607559
NM_170707.4(LMNA):c.266G>A (p.Arg89His) rs59040894
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) rs59040894
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) rs59040894
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.271A>C (p.Thr91Pro)
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.273C>T (p.Thr91=) rs1649734316
NM_170707.4(LMNA):c.274C>G (p.Leu92Val) rs267607560
NM_170707.4(LMNA):c.274del (p.Asp93fs)
NM_170707.4(LMNA):c.275T>C (p.Leu92Pro) rs2102818731
NM_170707.4(LMNA):c.280T>C (p.Ser94Pro) rs2102818745
NM_170707.4(LMNA):c.282A>G (p.Ser94=)
NM_170707.4(LMNA):c.282dup (p.Val95fs)
NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter) rs2102818749
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)
NM_170707.4(LMNA):c.28A>T (p.Thr10Ser)
NM_170707.4(LMNA):c.294_295delinsAA (p.Arg99Ser)
NM_170707.4(LMNA):c.295C>T (p.Arg99Cys) rs886045364
NM_170707.4(LMNA):c.297C>T (p.Arg99=)
NM_170707.4(LMNA):c.298G>C (p.Ala100Pro) rs886044468
NM_170707.4(LMNA):c.298_299del (p.Ala100fs) rs1649736692
NM_170707.4(LMNA):c.29C>G (p.Thr10Ser)
NM_170707.4(LMNA):c.301C>T (p.Arg101Cys)
NM_170707.4(LMNA):c.302G>A (p.Arg101His) rs267607568
NM_170707.4(LMNA):c.304C>T (p.Leu102=)
NM_170707.4(LMNA):c.306G>A (p.Leu102=)
NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) rs1131691980
NM_170707.4(LMNA):c.311T>A (p.Leu104Gln) rs886042953
NM_170707.4(LMNA):c.312G>C (p.Leu104=)
NM_170707.4(LMNA):c.313G>A (p.Glu105Lys)
NM_170707.4(LMNA):c.313_314delinsTT (p.Glu105Leu) rs2102818950
NM_170707.4(LMNA):c.315G>C (p.Glu105Asp) rs2102818956
NM_170707.4(LMNA):c.317T>C (p.Leu106Pro)
NM_170707.4(LMNA):c.318G>C (p.Leu106=)
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
NM_170707.4(LMNA):c.322A>G (p.Lys108Glu)
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.329G>C (p.Arg110Pro) rs556237236
NM_170707.4(LMNA):c.32G>T (p.Arg11Leu) rs1649700040
NM_170707.4(LMNA):c.331GAG[1] (p.Glu112del) rs61726474
NM_170707.4(LMNA):c.332A>G (p.Glu111Gly) rs1649741467
NM_170707.4(LMNA):c.333_334delinsAT (p.Glu112Ter)
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys) rs1553262031
NM_170707.4(LMNA):c.334G>T (p.Glu112Ter) rs1553262031
NM_170707.4(LMNA):c.335A>G (p.Glu112Gly) rs794728587
NM_170707.4(LMNA):c.336G>T (p.Glu112Asp)
NM_170707.4(LMNA):c.339T>A (p.Phe113Leu) rs759878335
NM_170707.4(LMNA):c.339dup (p.Lys114Ter) rs794728604
NM_170707.4(LMNA):c.340A>C (p.Lys114Gln) rs767902515
NM_170707.4(LMNA):c.343G>A (p.Glu115Lys) rs1649743062
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.347T>C (p.Leu116Pro) rs2102819141
NM_170707.4(LMNA):c.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.352G>T (p.Ala118Ser) rs987482450
NM_170707.4(LMNA):c.354G>A (p.Ala118=) rs2102819179
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys) rs17856971
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.356+1G>A rs794728589
NM_170707.4(LMNA):c.356+2T>A
NM_170707.4(LMNA):c.356+2T>G
NM_170707.4(LMNA):c.356+3_356+6del rs1649747081
NM_170707.4(LMNA):c.356+5G>A rs1572332952
NM_170707.4(LMNA):c.356G>A (p.Arg119His)
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.357-18C>G
NM_170707.4(LMNA):c.357-18C>T
NM_170707.4(LMNA):c.357-1G>T rs267607569
NM_170707.4(LMNA):c.357-2A>G rs113610699
NM_170707.4(LMNA):c.357-396_434del
NM_170707.4(LMNA):c.357-6C>G
NM_170707.4(LMNA):c.357-9C>T rs1186195332
NM_170707.4(LMNA):c.362C>T (p.Thr121Ile)
NM_170707.4(LMNA):c.364A>C (p.Lys122Gln) rs1222398892
NM_170707.4(LMNA):c.364A>T (p.Lys122Ter)
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.36C>T (p.Ser12=)
NM_170707.4(LMNA):c.371A>G (p.Glu124Gly) rs1650969002
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.376G>A (p.Asp126Asn) rs1351159308
NM_170707.4(LMNA):c.378C>A (p.Asp126Glu) rs869025456
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
NM_170707.4(LMNA):c.379C>T (p.Leu127=) rs1428192739
NM_170707.4(LMNA):c.380T>C (p.Leu127Pro) rs2102865527
NM_170707.4(LMNA):c.381G>C (p.Leu127=)
NM_170707.4(LMNA):c.383dup (p.Ala129fs)
NM_170707.4(LMNA):c.384A>T (p.Ile128=)
NM_170707.4(LMNA):c.388G>T (p.Ala130Ser)
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp) rs1650973990
NM_170707.4(LMNA):c.391C>T (p.Gln131Ter) rs1553264593
NM_170707.4(LMNA):c.393G>A (p.Gln131=)
NM_170707.4(LMNA):c.393G>C (p.Gln131His) rs2102865651
NM_170707.4(LMNA):c.397C>G (p.Arg133Gly)
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.400C>G (p.Leu134Val)
NM_170707.4(LMNA):c.405_425dup (p.Leu141_Asn142insLysAspLeuGluAlaLeuLeu)
NM_170707.4(LMNA):c.409C>G (p.Leu137Val) rs747998566
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)
NM_170707.4(LMNA):c.40del (p.Ala14fs)
NM_170707.4(LMNA):c.419T>C (p.Leu140Pro) rs60652225
NM_170707.4(LMNA):c.422T>C (p.Leu141Pro) rs2102865805
NM_170707.4(LMNA):c.423G>A (p.Leu141=) rs2102865822
NM_170707.4(LMNA):c.424A>G (p.Asn142Asp) rs1060502217
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343
NM_170707.4(LMNA):c.430A>G (p.Lys144Glu) rs2102865891
NM_170707.4(LMNA):c.430_432del (p.Lys144del) rs1553264615
NM_170707.4(LMNA):c.431A>C (p.Lys144Thr)
NM_170707.4(LMNA):c.431A>G (p.Lys144Arg)
NM_170707.4(LMNA):c.435G>A (p.Glu145=) rs1228858436
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.439G>C (p.Ala147Pro) rs139875047
NM_170707.4(LMNA):c.439G>T (p.Ala147Ser) rs139875047
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter) rs2102817088
NM_170707.4(LMNA):c.441A>T (p.Ala147=)
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.44A>C (p.Gln15Pro) rs748918487
NM_170707.4(LMNA):c.44A>G (p.Gln15Arg)
NM_170707.4(LMNA):c.450_451del (p.Ala151fs)
NM_170707.4(LMNA):c.455T>C (p.Leu152Pro)
NM_170707.4(LMNA):c.460G>A (p.Glu154Lys)
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg) rs754097769
NM_170707.4(LMNA):c.470C>T (p.Thr157Met) rs754097769
NM_170707.4(LMNA):c.471G>T (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.472C>T (p.Leu158=) rs2102866147
NM_170707.4(LMNA):c.475G>C (p.Glu159Gln)
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg) rs765665953
NM_170707.4(LMNA):c.478_479del (p.Gly160fs)
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.481G>T (p.Glu161Ter) rs28933093
NM_170707.4(LMNA):c.489T>G (p.His163Gln) rs1558126350
NM_170707.4(LMNA):c.490G>A (p.Asp164Asn)
NM_170707.4(LMNA):c.490G>T (p.Asp164Tyr) rs751033102
NM_170707.4(LMNA):c.491A>G (p.Asp164Gly) rs1650988739
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.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.4G>T (p.Glu2Ter) rs1558115754
NM_170707.4(LMNA):c.503A>G (p.Gln168Arg)
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
NM_170707.4(LMNA):c.507G>A (p.Val169=)
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.512A>G (p.Lys171Arg)
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+1G>A rs397517904
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.513+20C>T
NM_170707.4(LMNA):c.513+2T>C rs1553264668
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.513+45T>C
NM_170707.4(LMNA):c.513+45T>G rs878853220
NM_170707.4(LMNA):c.513+6G>A rs751256959
NM_170707.4(LMNA):c.513+6_513+20dup
NM_170707.4(LMNA):c.513+8C>T rs1060504515
NM_170707.4(LMNA):c.513G>A (p.Lys171=) rs267607542
NM_170707.4(LMNA):c.513G>C (p.Lys171Asn) rs267607542
NM_170707.4(LMNA):c.514-7dup rs757260455
NM_170707.4(LMNA):c.516T>A (p.Leu172=)
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu) rs762153472
NM_170707.4(LMNA):c.522del (p.Ala175fs) rs794728606
NM_170707.4(LMNA):c.525C>T (p.Ala175=)
NM_170707.4(LMNA):c.526C>T (p.Leu176=) rs149113760
NM_170707.4(LMNA):c.526del (p.Ala175_Leu176insTer) rs2102878324
NM_170707.4(LMNA):c.527T>C (p.Leu176Pro)
NM_170707.4(LMNA):c.528A>T (p.Leu176=) rs1026599240
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs) rs1553261855
NM_170707.4(LMNA):c.531T>C (p.Gly177=)
NM_170707.4(LMNA):c.535del (p.Ala179fs)
NM_170707.4(LMNA):c.547C>T (p.Leu183Phe)
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter) rs1651341099
NM_170707.4(LMNA):c.553G>T (p.Asp185Tyr)
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
NM_170707.4(LMNA):c.564G>A (p.Leu188=)
NM_170707.4(LMNA):c.566G>T (p.Arg189Leu)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.570G>A (p.Arg190=)
NM_170707.4(LMNA):c.570G>C (p.Arg190=) rs2102878622
NM_170707.4(LMNA):c.574del (p.Asp192fs)
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly) rs57045855
NM_170707.4(LMNA):c.577G>A (p.Ala193Thr)
NM_170707.4(LMNA):c.582G>A (p.Glu194=)
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.590T>C (p.Leu197Pro) rs1651348222
NM_170707.4(LMNA):c.591G>A (p.Leu197=) rs886044049
NM_170707.4(LMNA):c.592C>A (p.Gln198Lys) rs1553265165
NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) rs1553265165
NM_170707.4(LMNA):c.593A>C (p.Gln198Pro) rs2102878915
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.597C>T (p.Thr199=)
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.5del (p.Glu2fs)
NM_170707.4(LMNA):c.601A>T (p.Lys201Ter) rs1572358860
NM_170707.4(LMNA):c.603GGA[1] (p.Glu203del) rs1060502210
NM_170707.4(LMNA):c.604G>T (p.Glu202Ter)
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.608A>T (p.Glu203Val) rs28933092
NM_170707.4(LMNA):c.609A>G (p.Glu203=) rs2102879074
NM_170707.4(LMNA):c.610C>A (p.Leu204Met) rs1553265177
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.610C>T (p.Leu204=)
NM_170707.4(LMNA):c.611del (p.Leu204fs) rs1651352665
NM_170707.4(LMNA):c.614A>G (p.Asp205Gly) rs1651353565
NM_170707.4(LMNA):c.615C>T (p.Asp205=)
NM_170707.4(LMNA):c.617T>C (p.Phe206Ser)
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.619C>T (p.Gln207Ter) rs1085307888
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln) rs770744765
NM_170707.4(LMNA):c.623_626dup (p.Asn209fs) rs2102879250
NM_170707.4(LMNA):c.624G>A (p.Lys208=) rs1651355363
NM_170707.4(LMNA):c.625A>G (p.Asn209Asp) rs2102879291
NM_170707.4(LMNA):c.629T>A (p.Ile210Asn)
NM_170707.4(LMNA):c.629T>C (p.Ile210Thr) rs267607572
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro) rs1649704361
NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)
NM_170707.4(LMNA):c.634A>G (p.Ser212Gly)
NM_170707.4(LMNA):c.636_637dup (p.Glu213fs) rs2102879360
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+1G>A rs869125101
NM_170707.4(LMNA):c.639+1G>T rs869125101
NM_170707.4(LMNA):c.639+3G>A
NM_170707.4(LMNA):c.639+5G>C rs778763506
NM_170707.4(LMNA):c.639+6G>A
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.640-2A>G rs1572359505
NM_170707.4(LMNA):c.640-67_718del
NM_170707.4(LMNA):c.640-7C>G
NM_170707.4(LMNA):c.640-9C>G
NM_170707.4(LMNA):c.643C>G (p.Leu215Val) rs397517905
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.645G>A (p.Leu215=)
NM_170707.4(LMNA):c.645G>C (p.Leu215=)
NM_170707.4(LMNA):c.647_664dup (p.Arg216_Arg221dup) rs1651388987
NM_170707.4(LMNA):c.652A>C (p.Thr218Pro) rs886042966
NM_170707.4(LMNA):c.655A>T (p.Lys219Ter)
NM_170707.4(LMNA):c.656A>C (p.Lys219Thr) rs267607584
NM_170707.4(LMNA):c.658C>A (p.Arg220Ser)
NM_170707.4(LMNA):c.658C>G (p.Arg220Gly)
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_170707.4(LMNA):c.669_670del (p.Glu223fs)
NM_170707.4(LMNA):c.66G>A (p.Ser22=)
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile) rs1651393059
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.674G>C (p.Arg225Pro)
NM_170707.4(LMNA):c.674G>T (p.Arg225Leu) rs199474724
NM_170707.4(LMNA):c.676C>G (p.Leu226Val)
NM_170707.4(LMNA):c.678G>T (p.Leu226=)
NM_170707.4(LMNA):c.679G>A (p.Val227Met)
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.687T>C (p.Ile229=) rs2102880818
NM_170707.4(LMNA):c.689A>C (p.Asp230Ala)
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.691A>G (p.Asn231Asp)
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.4(LMNA):c.696G>C (p.Gly232=)
NM_170707.4(LMNA):c.699G>A (p.Lys233=) rs1340480656
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.702G>C (p.Gln234His) rs1558129394
NM_170707.4(LMNA):c.703C>T (p.Arg235Cys) rs201227908
NM_170707.4(LMNA):c.705del (p.Glu236fs) rs1651401067
NM_170707.4(LMNA):c.705dup (p.Glu236Ter)
NM_170707.4(LMNA):c.707del (p.Glu236fs)
NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)
NM_170707.4(LMNA):c.711T>C (p.Phe237=) rs768081358
NM_170707.4(LMNA):c.711_716del (p.Glu238_Ser239del)
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848
NM_170707.4(LMNA):c.717C>A (p.Ser239Arg) rs2102881081
NM_170707.4(LMNA):c.719G>A (p.Arg240Gln)
NM_170707.4(LMNA):c.719G>T (p.Arg240Leu)
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser) rs1195524446
NM_170707.4(LMNA):c.720_730del (p.Leu241fs)
NM_170707.4(LMNA):c.725C>A (p.Ala242Glu)
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
NM_170707.4(LMNA):c.728A>T (p.Asp243Val) rs1572359925
NM_170707.4(LMNA):c.729T>C (p.Asp243=) rs753243743
NM_170707.4(LMNA):c.729T>G (p.Asp243Glu) rs753243743
NM_170707.4(LMNA):c.729dup (p.Ala244fs) rs1553265328
NM_170707.4(LMNA):c.72C>T (p.Thr24=) rs1572331957
NM_170707.4(LMNA):c.730G>A (p.Ala244Thr) rs201866557
NM_170707.4(LMNA):c.734T>A (p.Leu245Gln)
NM_170707.4(LMNA):c.734dup (p.Gln246fs)
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys) rs727504373
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.73del (p.Arg25fs) rs1558115970
NM_170707.4(LMNA):c.740_748del (p.Glu247_Arg249del) rs1572359991
NM_170707.4(LMNA):c.743T>G (p.Leu248Arg) rs58850446
NM_170707.4(LMNA):c.744G>C (p.Leu248=)
NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp) rs1553265342
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) rs121912496
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.745_746insAT (p.Arg249fs)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.746G>C (p.Arg249Pro)
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr) rs1572360042
NM_170707.4(LMNA):c.74G>A (p.Arg25His)
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) rs61578124
NM_170707.4(LMNA):c.750C>T (p.Ala250=) rs2102881551
NM_170707.4(LMNA):c.754C>A (p.His252Asn) rs2102881566
NM_170707.4(LMNA):c.755A>G (p.His252Arg)
NM_170707.4(LMNA):c.755dup (p.His252fs)
NM_170707.4(LMNA):c.756T>C (p.His252=)
NM_170707.4(LMNA):c.757G>A (p.Glu253Lys)
NM_170707.4(LMNA):c.758_810+70del
NM_170707.4(LMNA):c.75C>T (p.Arg25=) rs80356804
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.765G>A (p.Gln255=) rs1651412868
NM_170707.4(LMNA):c.76A>G (p.Ile26Val)
NM_170707.4(LMNA):c.771_772delinsTT (p.Glu257_Gln258delinsAspTer)
NM_170707.4(LMNA):c.772C>G (p.Gln258Glu) rs2102881769
NM_170707.4(LMNA):c.773A>G (p.Gln258Arg)
NM_170707.4(LMNA):c.774G>A (p.Gln258=) rs2102881783
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.779A>C (p.Lys260Thr) rs2102881862
NM_170707.4(LMNA):c.781A>G (p.Lys261Glu)
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.786G>A (p.Glu262=)
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.788T>A (p.Leu263Gln) rs267607625
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.791AGA[1] (p.Lys265del) rs1553265371
NM_170707.4(LMNA):c.792_793insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGGAGCTGGAG (p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170707.4(LMNA):c.793A>G (p.Lys265Glu)
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.800_802dup (p.Tyr267dup) rs2102882045
NM_170707.4(LMNA):c.805G>C (p.Ala269Pro) rs1558129744
NM_170707.4(LMNA):c.808A>C (p.Lys270Gln) rs879253920
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser) rs863225270
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
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.810+1G>A rs267607632
NM_170707.4(LMNA):c.810+2T>C rs2102882192
NM_170707.4(LMNA):c.810+32_1323del
NM_170707.4(LMNA):c.810+4C>A rs780196737
NM_170707.4(LMNA):c.810+4C>G rs780196737
NM_170707.4(LMNA):c.810G>A (p.Lys270=) rs267607631
NM_170707.4(LMNA):c.811-13T>C
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.811-1G>C
NM_170707.4(LMNA):c.811-2A>G rs2102883099
NM_170707.4(LMNA):c.811-4C>G rs2102883092
NM_170707.4(LMNA):c.811-9C>A
NM_170707.4(LMNA):c.814G>C (p.Asp272His)
NM_170707.4(LMNA):c.814del (p.Asp272fs)
NM_170707.4(LMNA):c.822C>G (p.Ala274=) rs1572360747
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.823A>G (p.Arg275Gly)
NM_170707.4(LMNA):c.824G>A (p.Arg275Lys)
NM_170707.4(LMNA):c.827A>C (p.Gln276Pro)
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) rs59914820
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.833C>T (p.Ala278Val)
NM_170707.4(LMNA):c.838A>G (p.Arg280Gly)
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_170707.4(LMNA):c.843C>G (p.Asn281Lys)
NM_170707.4(LMNA):c.843C>T (p.Asn281=) rs1651447057
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro) rs886043260
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.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.857_859del (p.Gly286del) rs59564495
NM_170707.4(LMNA):c.859G>A (p.Ala287Thr)
NM_170707.4(LMNA):c.85C>A (p.Leu29Met)
NM_170707.4(LMNA):c.860C>T (p.Ala287Val) rs397517910
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.863C>T (p.Ala288Val)
NM_170707.4(LMNA):c.866A>C (p.His289Pro) rs1558130062
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.869A>T (p.Glu290Val) rs1651453317
NM_170707.4(LMNA):c.873G>A (p.Glu291=)
NM_170707.4(LMNA):c.875T>G (p.Leu292Arg) rs1572361004
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu) rs1553265455
NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) rs1553265455
NM_170707.4(LMNA):c.878A>C (p.Gln293Pro)
NM_170707.4(LMNA):c.878A>G (p.Gln293Arg)
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
NM_170707.4(LMNA):c.882G>A (p.Gln294=)
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro) rs267607633
NM_170707.4(LMNA):c.884C>A (p.Ser295Ter)
NM_170707.4(LMNA):c.884C>G (p.Ser295Trp)
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.887G>C (p.Arg296Pro) rs1024051591
NM_170707.4(LMNA):c.887G>T (p.Arg296Leu)
NM_170707.4(LMNA):c.888C>T (p.Arg296=)
NM_170707.4(LMNA):c.889A>G (p.Ile297Val) rs886043082
NM_170707.4(LMNA):c.88C>G (p.Gln30Glu) rs2102817413
NM_170707.4(LMNA):c.890T>G (p.Ile297Ser) rs1060502212
NM_170707.4(LMNA):c.891C>T (p.Ile297=)
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
NM_170707.4(LMNA):c.893G>C (p.Arg298Pro) rs762653476
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.894C>T (p.Arg298=)
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn) rs1235021953
NM_170707.4(LMNA):c.902G>A (p.Ser301Asn) rs546272425
NM_170707.4(LMNA):c.902G>C (p.Ser301Thr)
NM_170707.4(LMNA):c.902_905dup (p.Ser303fs)
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
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.914A>G (p.Gln305Arg)
NM_170707.4(LMNA):c.915G>C (p.Gln305His)
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) rs1228406418
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg) rs2102817441
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.920G>A (p.Ser307Asn) rs759249597
NM_170707.4(LMNA):c.920G>T (p.Ser307Ile)
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.928C>T (p.Gln310Ter) rs878855234
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly) rs1649709575
NM_170707.4(LMNA):c.931A>G (p.Lys311Glu) rs2102884264
NM_170707.4(LMNA):c.932A>C (p.Lys311Thr)
NM_170707.4(LMNA):c.934C>T (p.Gln312Ter) rs1651466808
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.936+1G>A rs267607588
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.936G>A (p.Gln312=) rs2102884287
NM_170707.4(LMNA):c.937-10C>A rs1362695395
NM_170707.4(LMNA):c.937-11C>A rs267607645
NM_170707.4(LMNA):c.937-11C>G 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.937-1G>A rs1553265606
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.937-9_937-8delinsAG rs2102886483
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.940del (p.Ala314fs)
NM_170707.4(LMNA):c.945C>T (p.Ala315=)
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter) rs1553261891
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.951G>A (p.Glu317=) rs1278448557
NM_170707.4(LMNA):c.951G>T (p.Glu317Asp) rs1278448557
NM_170707.4(LMNA):c.955A>T (p.Lys319Ter)
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170707.4(LMNA):c.962G>A (p.Arg321Gln) rs1180922815
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.96GGA[1] (p.Glu33del)
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly) rs2102886914
NM_170707.4(LMNA):c.973del (p.Asp325fs)
NM_170707.4(LMNA):c.974A>C (p.Asp325Ala)
NM_170707.4(LMNA):c.976T>G (p.Ser326Ala) rs56851164
NM_170707.4(LMNA):c.978_979del (p.Leu327fs) rs794728610
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)
NM_170707.4(LMNA):c.980_995del (p.Leu327fs) rs2102887031
NM_170707.4(LMNA):c.983C>G (p.Ala328Gly)
NM_170707.4(LMNA):c.983C>T (p.Ala328Val) rs1651545788
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys) rs775159300
NM_170707.4(LMNA):c.988G>A (p.Glu330Lys) rs1060502211
NM_170707.4(LMNA):c.988G>C (p.Glu330Gln)
NM_170707.4(LMNA):c.988G>T (p.Glu330Ter) rs1060502211
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly) rs267607614
NM_170707.4(LMNA):c.991C>G (p.Arg331Gly)
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204
NM_170707.4(LMNA):c.996C>T (p.Asp332=)
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821

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