ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Invitae

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7543
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) rs146851019 0.00066
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_030973.4(MED25):c.602C>T (p.Pro201Leu) rs144354024 0.00054
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787 0.00049
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070 0.00044
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
NM_004990.4(MARS1):c.986C>A (p.Pro329His) rs145260922 0.00040
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln) rs150428018 0.00037
NM_030973.4(MED25):c.679G>A (p.Val227Met) rs369825113 0.00036
NM_001005373.4(LRSAM1):c.21_41dup (p.Pro10_Lys16dup) rs760944483 0.00035
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser) rs199912457 0.00035
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472 0.00034
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly) rs149432418 0.00031
NM_001005373.4(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340 0.00024
NM_001005373.4(LRSAM1):c.720C>G (p.Asp240Glu) rs150820300 0.00024
NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) rs41274468 0.00024
NM_001605.3(AARS1):c.480-12C>G rs199728312 0.00024
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu) rs141871482 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_001005373.4(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009 0.00021
NM_001376.5(DYNC1H1):c.5050-3C>T rs372462176 0.00021
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser) rs138166258 0.00020
NM_001005373.4(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060 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_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357 0.00019
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) rs151196994 0.00019
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_000263.4(NAGLU):c.1880C>T (p.Ala627Val) rs140905880 0.00017
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr) rs200706275 0.00017
NM_001365951.3(KIF1B):c.3131G>A (p.Ser1044Asn) rs769602520 0.00016
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln) rs200011880 0.00016
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00016
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser) rs373539744 0.00016
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_030973.4(MED25):c.733G>C (p.Val245Leu) rs771068558 0.00016
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229 0.00015
NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn) rs375389310 0.00015
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001005373.4(LRSAM1):c.62A>G (p.Gln21Arg) rs372408222 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_004990.4(MARS1):c.2415G>A (p.Leu805=) rs374963162 0.00014
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809 0.00014
NM_015271.5(TRIM2):c.461A>G (p.Glu154Gly) rs959109286 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_001303256.3(MORC2):c.2066C>T (p.Ala689Val) rs560948457 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_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014 0.00013
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_030973.4(MED25):c.1786G>A (p.Val596Ile) rs369707406 0.00013
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075 0.00012
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_001005373.4(LRSAM1):c.1405C>T (p.Arg469Trp) rs376468970 0.00011
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_006158.5(NEFL):c.579G>A (p.Met193Ile) rs367943135 0.00011
NM_014874.4(MFN2):c.1199G>A (p.Arg400Gln) rs138072432 0.00011
NM_015271.5(TRIM2):c.653A>G (p.His218Arg) rs952772847 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_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001122955.4(BSCL2):c.1313C>T (p.Pro438Leu) rs1473465067 0.00010
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427 0.00010
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 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_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995 0.00010
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) rs372245403 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) rs202115696 0.00009
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr) rs930823153 0.00009
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452 0.00009
NM_001005361.3(DNM2):c.2543+6G>T rs531145240 0.00009
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549 0.00009
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307 0.00009
NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr) rs374098797 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_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) rs779639460 0.00009
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) rs756408576 0.00009
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys) rs772759631 0.00009
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu) rs147637407 0.00009
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594 0.00009
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu) rs148245567 0.00009
NM_004990.4(MARS1):c.298C>G (p.Leu100Val) rs200701235 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala) rs878854979 0.00009
NM_014874.4(MFN2):c.1150C>T (p.Arg384Trp) rs777353788 0.00009
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu) rs756526036 0.00009
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu) rs764267049 0.00009
NM_001005373.4(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646 0.00008
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_001605.3(AARS1):c.2105C>T (p.Pro702Leu) rs776471315 0.00008
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) rs139871647 0.00008
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn) rs760487210 0.00008
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) rs748377952 0.00008
NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys) rs754993844 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_015271.5(TRIM2):c.497G>A (p.Arg166Gln) rs146252965 0.00008
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 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_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) rs752264680 0.00007
NM_001005361.3(DNM2):c.234A>G (p.Thr78=) rs747545894 0.00007
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) rs141377075 0.00007
NM_001303256.3(MORC2):c.2702_2704dup (p.Leu901_Ser902insMet) rs779496791 0.00007
NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=) rs1035373795 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_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999 0.00007
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile) rs750697495 0.00007
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys) rs754023659 0.00007
NM_030973.4(MED25):c.1101+4G>A rs746210338 0.00007
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys) rs752175666 0.00007
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys) rs553293896 0.00006
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr) rs752473055 0.00006
NM_001005361.3(DNM2):c.535A>G (p.Met179Val) rs748887276 0.00006
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val) rs969140793 0.00006
NM_001005373.4(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702 0.00006
NM_001005373.4(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539 0.00006
NM_001005373.4(LRSAM1):c.1422+6C>T rs745690669 0.00006
NM_001005373.4(LRSAM1):c.1949C>T (p.Thr650Met) rs773505699 0.00006
NM_001005373.4(LRSAM1):c.436G>A (p.Val146Met) rs555377969 0.00006
NM_001005373.4(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243 0.00006
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly) rs186049675 0.00006
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372 0.00006
NM_001303256.3(MORC2):c.2668G>A (p.Glu890Lys) rs201090445 0.00006
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys) rs150496681 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.2115+6A>T rs149407490 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr) rs202229713 0.00006
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His) rs149417293 0.00006
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu) rs760368705 0.00006
NM_001605.3(AARS1):c.1399A>G (p.Ile467Val) rs376215607 0.00006
NM_001605.3(AARS1):c.940C>T (p.Arg314Trp) rs753667245 0.00006
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr) rs528223570 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2065C>G (p.Arg689Gly) rs376308368 0.00006
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797 0.00006
NM_004990.4(MARS1):c.1540-3C>T rs372013808 0.00006
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659 0.00006
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu) rs765690389 0.00006
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00006
NM_006158.5(NEFL):c.1340T>C (p.Val447Ala) rs1045761358 0.00006
NM_014874.4(MFN2):c.1709A>G (p.Asn570Ser) rs376925978 0.00006
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.1491+5G>C rs375360273 0.00006
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His) rs368448939 0.00006
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys) rs777647151 0.00006
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys) rs758741868 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter) rs746368269 0.00006
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys) rs148041016 0.00006
NM_021625.5(TRPV4):c.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser) rs777358313 0.00006
NM_030973.4(MED25):c.802G>A (p.Val268Ile) rs1015978148 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243 0.00005
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys) rs772920450 0.00005
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys) rs374864354 0.00005
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp) rs587778235 0.00005
NM_001005373.4(LRSAM1):c.1347+5G>A rs368570954 0.00005
NM_001005373.4(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971 0.00005
NM_001005373.4(LRSAM1):c.368T>C (p.Ile123Thr) rs542497718 0.00005
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001005373.4(LRSAM1):c.568C>T (p.Arg190Trp) rs767583106 0.00005
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_001303256.3(MORC2):c.2644G>A (p.Ala882Thr) rs372199572 0.00005
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865 0.00005
NM_001605.3(AARS1):c.1367G>T (p.Gly456Val) rs879254125 0.00005
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001605.3(AARS1):c.418G>A (p.Gly140Arg) rs200438841 0.00005
NM_002047.4(GARS1):c.123C>A (p.Cys41Ter) rs988893052 0.00005
NM_002180.3(IGHMBP2):c.1632+4C>T rs775832239 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_004990.4(MARS1):c.1091+2dup rs754216322 0.00005
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val) rs759198038 0.00005
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu) rs778475853 0.00005
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) rs776411681 0.00005
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp) rs369861995 0.00005
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser) rs763613524 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_015271.5(TRIM2):c.561G>T (p.Gln187His) rs752837955 0.00005
NM_021625.5(TRPV4):c.1063C>T (p.Arg355Cys) rs143604694 0.00005
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.2270G>A (p.Arg757His) rs143835743 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu) rs201294692 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp) rs929286583 0.00004
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) rs144807822 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln) rs375653221 0.00004
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val) rs758246840 0.00004
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met) rs757366208 0.00004
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528 0.00004
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn) rs879254300 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902 0.00004
NM_001005373.4(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052 0.00004
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799 0.00004
NM_001005373.4(LRSAM1):c.1280G>A (p.Arg427Gln) rs200963472 0.00004
NM_001005373.4(LRSAM1):c.136T>C (p.Phe46Leu) rs546739304 0.00004
NM_001005373.4(LRSAM1):c.1514C>T (p.Ser505Leu) rs146106537 0.00004
NM_001005373.4(LRSAM1):c.16C>T (p.Arg6Trp) rs140467743 0.00004
NM_001005373.4(LRSAM1):c.1757A>G (p.Tyr586Cys) rs768302528 0.00004
NM_001005373.4(LRSAM1):c.1781G>A (p.Arg594His) rs537838691 0.00004
NM_001005373.4(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085 0.00004
NM_001005373.4(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204 0.00004
NM_001005373.4(LRSAM1):c.1905C>G (p.Ile635Met) rs369161790 0.00004
NM_001005373.4(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093 0.00004
NM_001005373.4(LRSAM1):c.252+3A>G rs764331245 0.00004
NM_001005373.4(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137 0.00004
NM_001005373.4(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898 0.00004
NM_001005373.4(LRSAM1):c.484A>G (p.Ile162Val) rs1039329590 0.00004
NM_001005373.4(LRSAM1):c.514G>A (p.Val172Ile) rs529333601 0.00004
NM_001005373.4(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988 0.00004
NM_001005373.4(LRSAM1):c.992C>T (p.Thr331Met) rs775480266 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 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.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu) rs777252717 0.00004
NM_001303256.3(MORC2):c.1451G>A (p.Arg484His) rs143046507 0.00004
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965 0.00004
NM_001303256.3(MORC2):c.2605G>A (p.Gly869Arg) rs143046823 0.00004
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met) rs778221935 0.00004
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550 0.00004
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376 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.2824G>A (p.Asp942Asn) rs370647925 0.00004
NM_001365951.3(KIF1B):c.2986G>A (p.Val996Ile) rs145596547 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 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.5324G>A (p.Arg1775His) rs374303355 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261 0.00004
NM_001376.5(DYNC1H1):c.6857+5G>A rs371934648 0.00004
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu) rs377242217 0.00004
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351 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.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.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.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.959G>A (p.Arg320His) rs557600847 0.00004
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser) rs370650205 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1779C>A (p.Phe593Leu) rs372368483 0.00004
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr) rs1064797334 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.757G>A (p.Glu253Lys) rs760051768 0.00004
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys) rs780902152 0.00004
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) rs750407517 0.00004
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) rs759609027 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) rs772945179 0.00004
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu) rs562565076 0.00004
NM_004990.4(MARS1):c.1448G>A (p.Arg483His) rs779123068 0.00004
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp) rs551633010 0.00004
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075 0.00004
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys) rs368028253 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_004990.4(MARS1):c.266C>T (p.Ala89Val) rs781061568 0.00004
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530 0.00004
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr) rs764006401 0.00004
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile) rs759101321 0.00004
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436 0.00004
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr) rs141105798 0.00004
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) rs745584505 0.00004
NM_006158.5(NEFL):c.1310G>A (p.Arg437His) rs369991241 0.00004
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala) rs777547427 0.00004
NM_006158.5(NEFL):c.677T>C (p.Val226Ala) rs1586128391 0.00004
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr) rs752044307 0.00004
NM_014365.3(HSPB8):c.523T>G (p.Ser175Ala) rs1000728639 0.00004
NM_014874.4(MFN2):c.1108G>C (p.Glu370Gln) rs377402479 0.00004
NM_014874.4(MFN2):c.1528C>T (p.Arg510Trp) rs146092040 0.00004
NM_014874.4(MFN2):c.1762C>T (p.Pro588Ser) rs771043011 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln) rs777541972 0.00004
NM_015271.5(TRIM2):c.1834C>T (p.Arg612Cys) rs770933241 0.00004
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val) rs140853898 0.00004
NM_015271.5(TRIM2):c.445G>A (p.Asp149Asn) rs140886410 0.00004
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404 0.00004
NM_015271.5(TRIM2):c.962G>A (p.Arg321Gln) rs368629463 0.00004
NM_021625.5(TRPV4):c.1039G>T (p.Asp347Tyr) rs1006063188 0.00004
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs770364304 0.00004
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe) rs777901220 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021625.5(TRPV4):c.656G>A (p.Arg219His) rs767331924 0.00004
NM_021625.5(TRPV4):c.711A>G (p.Arg237=) rs927188562 0.00004
NM_030973.4(MED25):c.1076C>T (p.Thr359Met) rs750201507 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.2209G>A (p.Val737Ile) rs767118345 0.00004
NM_030973.4(MED25):c.232C>G (p.Pro78Ala) rs773539397 0.00004
NM_030973.4(MED25):c.309C>A (p.Phe103Leu) rs918394135 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_030973.4(MED25):c.800C>T (p.Pro267Leu) rs757939861 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.1556C>T (p.Thr519Ile) rs753988867 0.00004
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly) rs141578711 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 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.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) rs372165410 0.00003
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys) rs772901588 0.00003
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln) rs140043676 0.00003
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly) rs745748213 0.00003
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile) rs143992936 0.00003
NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser) rs757121012 0.00003
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418 0.00003
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met) rs755608537 0.00003
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00003
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu) rs779734638 0.00003
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu) rs377159042 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser) rs890297188 0.00003
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173 0.00003
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 0.00003
NM_001005373.4(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001122955.4(BSCL2):c.955A>G (p.Met319Val) rs369511412 0.00003
NM_001303256.3(MORC2):c.1027C>T (p.Arg343Cys) rs368475981 0.00003
NM_001303256.3(MORC2):c.158-3C>T rs776368889 0.00003
NM_001303256.3(MORC2):c.1605-3C>T rs111618347 0.00003
NM_001303256.3(MORC2):c.1667C>T (p.Thr556Met) rs776665575 0.00003
NM_001303256.3(MORC2):c.1823G>A (p.Arg608His) rs781443418 0.00003
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys) rs201032497 0.00003
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu) rs760522350 0.00003
NM_001303256.3(MORC2):c.2270A>G (p.Glu757Gly) rs774444542 0.00003
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410 0.00003
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096 0.00003
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863 0.00003
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) rs1355363942 0.00003
NM_001303256.3(MORC2):c.919C>T (p.Arg307Trp) rs772692197 0.00003
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 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.3043G>A (p.Ala1015Thr) rs200614254 0.00003
NM_001365951.3(KIF1B):c.3045G>A (p.Ala1015=) rs772919031 0.00003
NM_001365951.3(KIF1B):c.3151A>G (p.Met1051Val) rs765659089 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.3824C>G (p.Thr1275Arg) rs749610931 0.00003
NM_001365951.3(KIF1B):c.439A>G (p.Met147Val) rs796287290 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_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly) rs569322395 0.00003
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met) rs372041146 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.11733A>T (p.Gly3911=) rs1241394733 0.00003
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln) rs758895614 0.00003
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132 0.00003
NM_001376.5(DYNC1H1):c.7394C>T (p.Ala2465Val) rs1327313169 0.00003
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val) rs774677904 0.00003
NM_001540.5(HSPB1):c.379C>A (p.Arg127=) rs29001571 0.00003
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230 0.00003
NM_001540.5(HSPB1):c.70C>A (p.Pro24Thr) rs1414148792 0.00003
NM_001605.3(AARS1):c.1244A>G (p.Tyr415Cys) rs373069396 0.00003
NM_001605.3(AARS1):c.1347G>A (p.Gln449=) rs200557581 0.00003
NM_001605.3(AARS1):c.1421G>A (p.Arg474Gln) rs202036345 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.2218G>C (p.Val740Leu) rs749217453 0.00003
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln) rs1383041194 0.00003
NM_001605.3(AARS1):c.2324C>T (p.Ser775Phe) rs372602483 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.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.163A>G (p.Met55Val) rs900324585 0.00003
NM_002047.4(GARS1):c.1760C>T (p.Thr587Met) rs750292154 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.866G>A (p.Gly289Glu) rs1343637666 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe) rs375645505 0.00003
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His) rs369816416 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) rs920864493 0.00003
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532 0.00003
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) rs768670979 0.00003
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785 0.00003
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904 0.00003
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) rs375630134 0.00003
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) rs866854462 0.00003
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960 0.00003
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter) rs764820125 0.00003
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter) rs746422516 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile) rs544343105 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141 0.00003
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927 0.00003
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223 0.00003
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) rs765580781 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn) rs774761874 0.00003
NM_006158.5(NEFL):c.1391A>T (p.Glu464Val) rs373274253 0.00003
NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu) rs773979111 0.00003
NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro) rs371037868 0.00003
NM_006158.5(NEFL):c.182C>T (p.Ser61Phe) rs1368855205 0.00003
NM_006158.5(NEFL):c.755C>T (p.Pro252Leu) rs373569840 0.00003
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn) rs1036182864 0.00003
NM_014365.3(HSPB8):c.319C>T (p.Pro107Ser) rs146000958 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.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_014874.4(MFN2):c.1816G>A (p.Gly606Ser) rs149122641 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.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.765C>G (p.Ile255Met) rs376327713 0.00003
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys) rs760086023 0.00003
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999 0.00003
NM_015271.5(TRIM2):c.2132T>C (p.Ile711Thr) rs772742492 0.00003
NM_015271.5(TRIM2):c.91G>A (p.Glu31Lys) rs961206561 0.00003
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys) rs878853090 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu) rs115358347 0.00003
NM_021625.5(TRPV4):c.1514C>T (p.Thr505Met) rs375574238 0.00003
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281 0.00003
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys) rs375189134 0.00003
NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu) rs140602150 0.00003
NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile) rs145184680 0.00003
NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys) rs149267166 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp) rs780102339 0.00003
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser) rs751399299 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.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser) rs745533616 0.00003
NM_030973.4(MED25):c.764C>G (p.Ala255Gly) rs763825256 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_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 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_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) rs1207098238 0.00002
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) rs777283283 0.00002
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg) rs750276054 0.00002
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp) rs368907396 0.00002
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=) rs538253489 0.00002
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile) rs763762422 0.00002
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr) rs587778236 0.00002
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val) rs375577182 0.00002
NM_001005361.3(DNM2):c.2291+5G>A rs747057769 0.00002
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln) rs768817257 0.00002
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro) rs1277774683 0.00002
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln) rs766387630 0.00002
NM_001005361.3(DNM2):c.414G>A (p.Pro138=) rs1222869455 0.00002
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp) rs1375606719 0.00002
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser) rs757892950 0.00002
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln) rs754507545 0.00002
NM_001005361.3(DNM2):c.812G>A (p.Arg271His) rs781546006 0.00002
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys) rs760254039 0.00002
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val) rs755458594 0.00002
NM_001005373.4(LRSAM1):c.1043+5G>A rs780868977 0.00002
NM_001005373.4(LRSAM1):c.1058C>G (p.Ser353Cys) rs748144981 0.00002
NM_001005373.4(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456 0.00002
NM_001005373.4(LRSAM1):c.1147C>T (p.Arg383Cys) rs1006024672 0.00002
NM_001005373.4(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791 0.00002
NM_001005373.4(LRSAM1):c.1239G>T (p.Leu413Phe) rs751314768 0.00002
NM_001005373.4(LRSAM1):c.1541T>A (p.Leu514Gln) rs758290295 0.00002
NM_001005373.4(LRSAM1):c.1714C>T (p.Arg572Cys) rs1359751742 0.00002
NM_001005373.4(LRSAM1):c.1849G>T (p.Gly617Cys) rs770758847 0.00002
NM_001005373.4(LRSAM1):c.2009T>C (p.Val670Ala) rs748185533 0.00002
NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys) rs746213887 0.00002
NM_001005373.4(LRSAM1):c.23G>A (p.Arg8Gln) rs777784051 0.00002
NM_001005373.4(LRSAM1):c.457C>T (p.Arg153Cys) rs772739566 0.00002
NM_001005373.4(LRSAM1):c.49C>T (p.Arg17Cys) rs770259167 0.00002
NM_001005373.4(LRSAM1):c.50G>A (p.Arg17His) rs776039231 0.00002
NM_001005373.4(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919 0.00002
NM_001005373.4(LRSAM1):c.698A>C (p.Asp233Ala) rs747872731 0.00002
NM_001005373.4(LRSAM1):c.835C>T (p.Arg279Trp) rs766288153 0.00002
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_001005373.4(LRSAM1):c.914G>A (p.Arg305Gln) rs201329646 0.00002
NM_001005373.4(LRSAM1):c.955G>A (p.Ala319Thr) rs756492485 0.00002
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.1288C>T (p.Pro430Ser) rs377310581 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 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.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_001303256.3(MORC2):c.1118A>G (p.Asn373Ser) rs762901266 0.00002
NM_001303256.3(MORC2):c.158-10T>G rs543329880 0.00002
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) rs748092969 0.00002
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly) rs778099643 0.00002
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln) rs201772330 0.00002
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306 0.00002
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala) rs746418433 0.00002
NM_001303256.3(MORC2):c.238A>G (p.Ser80Gly) rs376351739 0.00002
NM_001303256.3(MORC2):c.457C>T (p.Arg153Trp) rs774502307 0.00002
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met) rs774960940 0.00002
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949 0.00002
NM_001303256.3(MORC2):c.848G>A (p.Arg283His) rs1482880426 0.00002
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp) rs369654856 0.00002
NM_001303256.3(MORC2):c.988-10A>G rs370880177 0.00002
NM_001365951.3(KIF1B):c.1693C>T (p.Arg565Trp) rs758740011 0.00002
NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys) rs767848662 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.2448G>C (p.Glu816Asp) rs146335819 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.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.3925A>G (p.Lys1309Glu) rs772177176 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.4543C>T (p.Arg1515Cys) rs774445070 0.00002
NM_001365951.3(KIF1B):c.4590A>T (p.Leu1530Phe) rs751046833 0.00002
NM_001365951.3(KIF1B):c.4711A>C (p.Ile1571Leu) rs766977555 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.5225G>A (p.Arg1742His) rs768058092 0.00002
NM_001365951.3(KIF1B):c.5423G>A (p.Arg1808His) rs770215708 0.00002
NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr) rs923434398 0.00002
NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg) rs868622074 0.00002
NM_001376.5(DYNC1H1):c.11926G>C (p.Glu3976Gln) rs1459731964 0.00002
NM_001376.5(DYNC1H1):c.1363G>A (p.Ala455Thr) rs1247065537 0.00002
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val) rs775473086 0.00002
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206 0.00002
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415 0.00002
NM_001376.5(DYNC1H1):c.4127G>A (p.Arg1376Gln) rs778731013 0.00002
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr) rs773460120 0.00002
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val) rs1187943520 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met) rs765825369 0.00002
NM_001540.5(HSPB1):c.321C>A (p.Asp107Glu) rs1433396777 0.00002
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365 0.00002
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile) rs1173242313 0.00002
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn) rs147500292 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.1529G>A (p.Arg510His) rs202176955 0.00002
NM_001605.3(AARS1):c.1645G>A (p.Val549Met) rs558645844 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.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2287-15G>A rs774569911 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.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.278A>G (p.Tyr93Cys) rs1251929931 0.00002
NM_001605.3(AARS1):c.80A>G (p.His27Arg) rs77753666 0.00002
NM_002047.4(GARS1):c.-6A>G rs747409671 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.1359C>T (p.Tyr453=) rs901778260 0.00002
NM_002047.4(GARS1):c.1817G>A (p.Ser606Asn) rs773316961 0.00002
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser) rs776478280 0.00002
NM_002047.4(GARS1):c.403G>T (p.Asp135Tyr) rs778553007 0.00002
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys) rs769780656 0.00002
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321 0.00002
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys) rs374185933 0.00002
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) rs746014167 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) rs761885813 0.00002
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) rs763014565 0.00002
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) rs765230277 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) rs757006949 0.00002
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932 0.00002
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) rs774483778 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623 0.00002
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) rs375694606 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) rs745416724 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro) rs775104487 0.00002
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) rs750766845 0.00002
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) rs756968558 0.00002
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_004990.4(MARS1):c.201-3C>T rs374880860 0.00002
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) rs770756933 0.00002
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met) rs776051748 0.00002
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944 0.00002
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) rs758314169 0.00002
NM_004990.4(MARS1):c.2447G>A (p.Arg816His) rs150482634 0.00002
NM_004990.4(MARS1):c.244A>C (p.Asn82His) rs758051760 0.00002
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met) rs759262797 0.00002
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259 0.00002
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter) rs958058841 0.00002
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser) rs750309467 0.00002
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) rs376785642 0.00002
NM_006158.5(NEFL):c.1170-19C>T rs762116919 0.00002
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys) rs749256770 0.00002
NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys) rs267601870 0.00002
NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn) rs550216338 0.00002
NM_006158.5(NEFL):c.716A>G (p.Gln239Arg) rs1170226456 0.00002
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_014365.3(HSPB8):c.164G>A (p.Arg55His) rs752911264 0.00002
NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln) rs747381453 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.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.187A>C (p.Asn63His) rs761216583 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.740G>A (p.Arg247His) rs762189054 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_015271.5(TRIM2):c.121C>T (p.Arg41Cys) rs763080800 0.00002
NM_015271.5(TRIM2):c.1897G>A (p.Gly633Arg) rs1331932809 0.00002
NM_015271.5(TRIM2):c.388A>G (p.Ile130Val) rs776363552 0.00002
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser) rs146053143 0.00002
NM_021625.5(TRPV4):c.1158T>G (p.Phe386Leu) rs760428569 0.00002
NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp) rs775385702 0.00002
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282 0.00002
NM_021625.5(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253 0.00002
NM_021625.5(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala) rs1085307827 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 0.00002
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys) rs1481500312 0.00002
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys) rs757814511 0.00002
NM_021625.5(TRPV4):c.2432C>T (p.Ser811Leu) rs756076344 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His) rs371989034 0.00002
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295 0.00002
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln) rs139300843 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys) rs200497189 0.00002
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val) rs1318320106 0.00002
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195 0.00002
NM_021625.5(TRPV4):c.743G>A (p.Arg248His) rs759859968 0.00002
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu) rs536678372 0.00002
NM_030973.4(MED25):c.1314C>G (p.Asn438Lys) rs149030211 0.00002
NM_030973.4(MED25):c.131T>G (p.Ile44Ser) rs376462101 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.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.1973C>T (p.Thr658Ile) rs768469811 0.00002
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr) rs367802464 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.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_030973.4(MED25):c.569C>T (p.Ala190Val) rs780526739 0.00002
NM_030973.4(MED25):c.697G>A (p.Gly233Ser) rs778397363 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.846G>T (p.Gln282His) rs762885909 0.00002
NM_030973.4(MED25):c.943G>A (p.Gly315Arg) rs1483220422 0.00002
NM_170707.4(LMNA):c.1157+6C>G rs374768416 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 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.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 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.658C>T (p.Arg220Cys) rs370134870 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.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NC_000012.11:g.57892346A>G rs766466297 0.00001
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) rs1469114327 0.00001
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser) rs2092906065 0.00001
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys) rs762372103 0.00001
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His) rs199850748 0.00001
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His) rs753409259 0.00001
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) rs868244206 0.00001
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu) rs748902330 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) rs1300652650 0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) rs764446533 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu) rs1362489439 0.00001
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser) rs1049965915 0.00001
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu) rs1166458645 0.00001
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg) rs1217324478 0.00001
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg) rs773277748 0.00001
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys) rs756138287 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly) rs777994015 0.00001
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly) rs1264514990 0.00001
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) rs1227171021 0.00001
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg) rs1197265081 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp) rs774918711 0.00001
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217 0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) rs146582131 0.00001
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) rs754927686 0.00001
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala) rs1329966515 0.00001
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) rs367726645 0.00001
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser) rs553153753 0.00001
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp) rs1455286651 0.00001
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg) rs1227387097 0.00001
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val) rs1285791183 0.00001
NM_000263.4(NAGLU):c.383+5C>G rs762932040 0.00001
NM_000263.4(NAGLU):c.384-10C>G rs772996063 0.00001
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser) rs762238741 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu) rs765009822 0.00001
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) rs1344891508 0.00001
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg) rs762576999 0.00001
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) rs1347490896 0.00001
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) rs1405289098 0.00001
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) rs764452721 0.00001
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) rs769713129 0.00001
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln) rs200625281 0.00001
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys) rs1202955393 0.00001
NM_001005361.3(DNM2):c.1128+5T>G rs2071835923 0.00001
NM_001005361.3(DNM2):c.1196+626G>A rs773756665 0.00001
NM_001005361.3(DNM2):c.1196+698C>A rs879253980 0.00001
NM_001005361.3(DNM2):c.1196+735A>G rs778187114 0.00001
NM_001005361.3(DNM2):c.1196+747A>G rs1280243348 0.00001
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp) rs372593558 0.00001
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln) rs749154067 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser) rs141132980 0.00001
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser) rs1406718069 0.00001
NM_001005361.3(DNM2):c.161+6C>T rs2068821980 0.00001
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg) rs886043756 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn) rs1423993325 0.00001
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772 0.00001
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly) rs1435133623 0.00001
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu) rs745382488 0.00001
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu) rs763393555 0.00001
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp) rs763927287 0.00001
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln) rs753677038 0.00001
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn) rs1253996634 0.00001
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val) rs757876109 0.00001
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser) rs774897265 0.00001
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile) rs754691182 0.00001
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe) rs375820696 0.00001
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=) rs779394836 0.00001
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr) rs762624510 0.00001
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu) rs1282571887 0.00001
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile) rs763624831 0.00001
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser) rs758644162 0.00001
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr) rs1443504332 0.00001
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val) rs138527500 0.00001
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp) rs2073292486 0.00001
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930 0.00001
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys) rs774180125 0.00001
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys) rs746818628 0.00001
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg) rs1340636700 0.00001
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp) rs200408053 0.00001
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys) rs761564812 0.00001
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser) rs1220312465 0.00001
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn) rs370086632 0.00001
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp) rs1366377441 0.00001
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp) rs542515194 0.00001
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg) rs1245632083 0.00001
NM_001005361.3(DNM2):c.689-3C>T rs373330742 0.00001
NM_001005361.3(DNM2):c.800A>G (p.His267Arg) rs1412618988 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys) rs138128705 0.00001
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met) rs746387165 0.00001
NM_001005361.3(DNM2):c.83A>T (p.His28Leu) rs774962668 0.00001
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu) rs774185418 0.00001
NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn) rs1344949726 0.00001
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys) rs370636702 0.00001
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg) rs148105340 0.00001
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp) rs778020908 0.00001
NM_001005373.4(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904 0.00001
NM_001005373.4(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117 0.00001
NM_001005373.4(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388 0.00001
NM_001005373.4(LRSAM1):c.1094G>A (p.Arg365Lys) rs1381062773 0.00001
NM_001005373.4(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240 0.00001
NM_001005373.4(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293 0.00001
NM_001005373.4(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270 0.00001
NM_001005373.4(LRSAM1):c.1168C>G (p.Gln390Glu) rs1258411555 0.00001
NM_001005373.4(LRSAM1):c.1198C>T (p.Arg400Trp) rs749575647 0.00001
NM_001005373.4(LRSAM1):c.122T>C (p.Leu41Pro) rs762731732 0.00001
NM_001005373.4(LRSAM1):c.1267G>A (p.Glu423Lys) rs767351229 0.00001
NM_001005373.4(LRSAM1):c.1347+3G>T rs375937623 0.00001
NM_001005373.4(LRSAM1):c.1355T>C (p.Met452Thr) rs765226810 0.00001
NM_001005373.4(LRSAM1):c.1454T>C (p.Leu485Pro) rs369939320 0.00001
NM_001005373.4(LRSAM1):c.1522C>T (p.Arg508Cys) rs375737634 0.00001
NM_001005373.4(LRSAM1):c.1544T>A (p.Leu515His) rs1835983507 0.00001
NM_001005373.4(LRSAM1):c.1567C>G (p.Gln523Glu) rs1468375975 0.00001
NM_001005373.4(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710 0.00001
NM_001005373.4(LRSAM1):c.1599G>A (p.Leu533=) rs1316186546 0.00001
NM_001005373.4(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662 0.00001
NM_001005373.4(LRSAM1):c.1699-3C>T rs756218616 0.00001
NM_001005373.4(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625 0.00001
NM_001005373.4(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230 0.00001
NM_001005373.4(LRSAM1):c.184G>A (p.Val62Ile) rs570688892 0.00001
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_001005373.4(LRSAM1):c.1871G>A (p.Arg624Gln) rs775743246 0.00001
NM_001005373.4(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608 0.00001
NM_001005373.4(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045 0.00001
NM_001005373.4(LRSAM1):c.1993C>G (p.Pro665Ala) rs749204843 0.00001
NM_001005373.4(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723 0.00001
NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=) rs767249563 0.00001
NM_001005373.4(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544 0.00001
NM_001005373.4(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542 0.00001
NM_001005373.4(LRSAM1):c.2122C>A (p.Leu708Met) rs1836448549 0.00001
NM_001005373.4(LRSAM1):c.2129G>A (p.Arg710His) rs770106776 0.00001
NM_001005373.4(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050 0.00001
NM_001005373.4(LRSAM1):c.2153G>A (p.Arg718His) rs764890552 0.00001
NM_001005373.4(LRSAM1):c.22C>T (p.Arg8Trp) rs752596738 0.00001
NM_001005373.4(LRSAM1):c.259G>T (p.Asp87Tyr) rs1172570035 0.00001
NM_001005373.4(LRSAM1):c.261T>G (p.Asp87Glu) rs746714138 0.00001
NM_001005373.4(LRSAM1):c.274C>A (p.Gln92Lys) rs1231990557 0.00001
NM_001005373.4(LRSAM1):c.306G>C (p.Gln102His) rs1392534147 0.00001
NM_001005373.4(LRSAM1):c.323T>C (p.Val108Ala) rs1324443410 0.00001
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His) rs143910539 0.00001
NM_001005373.4(LRSAM1):c.449G>A (p.Arg150Gln) rs200115008 0.00001
NM_001005373.4(LRSAM1):c.541G>C (p.Asp181His) rs1255236822 0.00001
NM_001005373.4(LRSAM1):c.544G>A (p.Ala182Thr) rs780636250 0.00001
NM_001005373.4(LRSAM1):c.551C>T (p.Ala184Val) rs947752458 0.00001
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val) rs542077582 0.00001
NM_001005373.4(LRSAM1):c.5C>T (p.Pro2Leu) rs553074777 0.00001
NM_001005373.4(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685 0.00001
NM_001005373.4(LRSAM1):c.64A>T (p.Met22Leu) rs769236666 0.00001
NM_001005373.4(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468 0.00001
NM_001005373.4(LRSAM1):c.775A>T (p.Arg259Trp) rs548898578 0.00001
NM_001005373.4(LRSAM1):c.805G>A (p.Glu269Lys) rs1414933191 0.00001
NM_001005373.4(LRSAM1):c.821T>C (p.Leu274Pro) rs1160703093 0.00001
NM_001005373.4(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714 0.00001
NM_001005373.4(LRSAM1):c.893C>T (p.Thr298Met) rs747368361 0.00001
NM_001005373.4(LRSAM1):c.968G>A (p.Arg323Gln) rs776157689 0.00001
NM_001005373.4(LRSAM1):c.98T>G (p.Ile33Ser) rs1276292442 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.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.1106C>T (p.Ser369Leu) rs771698323 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1234+6G>A rs762726296 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.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.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.344C>T (p.Ser115Phe) rs765023622 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.466A>G (p.Thr156Ala) rs137930278 0.00001
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) rs768780378 0.00001
NM_001122955.4(BSCL2):c.505C>T (p.Pro169Ser) rs878855171 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.605G>A (p.Arg202Gln) rs771534001 0.00001
NM_001122955.4(BSCL2):c.641A>G (p.His214Arg) rs544020840 0.00001
NM_001122955.4(BSCL2):c.666G>C (p.Met222Ile) rs755623017 0.00001
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=) rs774120735 0.00001
NM_001122955.4(BSCL2):c.808C>T (p.Arg270Cys) rs751664305 0.00001
NM_001122955.4(BSCL2):c.902T>C (p.Ile301Thr) rs776986432 0.00001
NM_001122955.4(BSCL2):c.940G>A (p.Val314Met) rs916916343 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NM_001303256.3(MORC2):c.1039G>A (p.Asp347Asn) rs138994326 0.00001
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly) rs1370510062 0.00001
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln) rs2040679348 0.00001
NM_001303256.3(MORC2):c.1357G>A (p.Asp453Asn) rs1007541711 0.00001
NM_001303256.3(MORC2):c.1370-3C>T rs770913783 0.00001
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val) rs367704663 0.00001
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667 0.00001
NM_001303256.3(MORC2):c.1499-3C>T rs1266866371 0.00001
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr) rs749364295 0.00001
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp) rs576981610 0.00001
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln) rs750003469 0.00001
NM_001303256.3(MORC2):c.164G>A (p.Arg55Gln) rs574524678 0.00001
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu) rs1338480863 0.00001
NM_001303256.3(MORC2):c.1705C>T (p.Arg569Cys) rs267606222 0.00001
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys) rs548292999 0.00001
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln) rs781481050 0.00001
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys) rs200774292 0.00001
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334 0.00001
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777 0.00001
NM_001303256.3(MORC2):c.1835G>A (p.Arg612His) rs763388376 0.00001
NM_001303256.3(MORC2):c.1841G>A (p.Arg614Gln) rs1399556111 0.00001
NM_001303256.3(MORC2):c.1874C>G (p.Ala625Gly) rs773737902 0.00001
NM_001303256.3(MORC2):c.1924C>T (p.Arg642Ter) rs373881103 0.00001
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln) rs765892287 0.00001
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly) rs200703581 0.00001
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys) rs1402143255 0.00001
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln) rs563612262 0.00001
NM_001303256.3(MORC2):c.2072T>C (p.Leu691Pro) rs142307145 0.00001
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764 0.00001
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060 0.00001
NM_001303256.3(MORC2):c.2171A>G (p.Glu724Gly) rs1031845854 0.00001
NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr) rs759091855 0.00001
NM_001303256.3(MORC2):c.2207G>A (p.Arg736Gln) rs957333682 0.00001
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr) rs142840638 0.00001
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn) rs762809030 0.00001
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586 0.00001
NM_001303256.3(MORC2):c.2292T>G (p.Phe764Leu) rs1396767941 0.00001
NM_001303256.3(MORC2):c.2381-3C>T rs1309634022 0.00001
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met) rs370149816 0.00001
NM_001303256.3(MORC2):c.2411A>G (p.Asn804Ser) rs759734334 0.00001
NM_001303256.3(MORC2):c.2432G>A (p.Arg811His) rs1163301326 0.00001
NM_001303256.3(MORC2):c.2467C>T (p.Arg823Trp) rs2040597155 0.00001
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met) rs760341830 0.00001
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu) rs767254485 0.00001
NM_001303256.3(MORC2):c.2708C>G (p.Thr903Ser) rs762499940 0.00001
NM_001303256.3(MORC2):c.2725G>A (p.Asp909Asn) rs770586964 0.00001
NM_001303256.3(MORC2):c.2747+6T>C rs368417146 0.00001
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) rs768569356 0.00001
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu) rs749060708 0.00001
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys) rs750335952 0.00001
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787 0.00001
NM_001303256.3(MORC2):c.2903G>A (p.Arg968His) rs370918395 0.00001
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350 0.00001
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys) rs1307310663 0.00001
NM_001303256.3(MORC2):c.2962C>T (p.Arg988Cys) rs748910060 0.00001
NM_001303256.3(MORC2):c.2963G>A (p.Arg988His) rs747693260 0.00001
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met) rs745339848 0.00001
NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln) rs1202036526 0.00001
NM_001303256.3(MORC2):c.3030+6C>G rs1388656367 0.00001
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln) rs768748502 0.00001
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg) rs370868047 0.00001
NM_001303256.3(MORC2):c.481A>C (p.Asn161His) rs1316437948 0.00001
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu) rs1602491814 0.00001
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly) rs1457131129 0.00001
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser) rs144248516 0.00001
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys) rs750265510 0.00001
NM_001303256.3(MORC2):c.562T>A (p.Phe188Ile) rs1360752364 0.00001
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val) rs375266158 0.00001
NM_001303256.3(MORC2):c.709C>T (p.Arg237Trp) rs762233089 0.00001
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509 0.00001
NM_001303256.3(MORC2):c.825-3C>A rs752040112 0.00001
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile) rs1235679626 0.00001
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val) rs554250414 0.00001
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln) rs751140985 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.1696C>T (p.Arg566Cys) rs985819179 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.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.2120A>T (p.Tyr707Phe) rs140536329 0.00001
NM_001365951.3(KIF1B):c.2254C>T (p.Arg752Trp) rs368066001 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.253G>T (p.Ala85Ser) rs765957120 0.00001
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly) rs779626536 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.2704G>A (p.Glu902Lys) rs368663292 0.00001
NM_001365951.3(KIF1B):c.2719C>T (p.Arg907Cys) rs1334915559 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.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.2925-3T>C rs958025550 0.00001
NM_001365951.3(KIF1B):c.2959G>A (p.Val987Met) rs768340319 0.00001
NM_001365951.3(KIF1B):c.3043+4G>A rs1331772399 0.00001
NM_001365951.3(KIF1B):c.3134A>G (p.Asp1045Gly) rs775328436 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.3349T>G (p.Phe1117Val) rs180870886 0.00001
NM_001365951.3(KIF1B):c.3565A>G (p.Ile1189Val) rs190481457 0.00001
NM_001365951.3(KIF1B):c.3625C>G (p.Leu1209Val) rs1320246121 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.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.3827C>T (p.Ala1276Val) rs747752091 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.4078G>A (p.Val1360Met) rs1553170068 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.4297C>A (p.Pro1433Thr) rs757899517 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.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.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.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.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.5291C>T (p.Thr1764Ile) rs777106047 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.5422C>T (p.Arg1808Cys) rs1060501912 0.00001
NM_001365951.3(KIF1B):c.549G>C (p.Lys183Asn) rs1308362049 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.61A>G (p.Ser21Gly) rs769237267 0.00001
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202 0.00001
NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln) rs376807805 0.00001
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly) rs1458996905 0.00001
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser) rs1555411393 0.00001
NM_001376.5(DYNC1H1):c.10333G>A (p.Ala3445Thr) rs755126314 0.00001
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys) rs1407151844 0.00001
NM_001376.5(DYNC1H1):c.1061G>A (p.Arg354Lys) rs1020301877 0.00001
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695 0.00001
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932 0.00001
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu) rs148203153 0.00001
NM_001376.5(DYNC1H1):c.10960C>T (p.Arg3654Trp) rs2048604040 0.00001
NM_001376.5(DYNC1H1):c.11176G>A (p.Glu3726Lys) rs2048608186 0.00001
NM_001376.5(DYNC1H1):c.11206+4G>T rs1164135384 0.00001
NM_001376.5(DYNC1H1):c.11457G>C (p.Lys3819Asn) rs756719644 0.00001
NM_001376.5(DYNC1H1):c.11543G>T (p.Gly3848Val) rs754712755 0.00001
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672 0.00001
NM_001376.5(DYNC1H1):c.11764C>T (p.Pro3922Ser) rs1288938461 0.00001
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg) rs879254035 0.00001
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys) rs767837334 0.00001
NM_001376.5(DYNC1H1):c.12005T>C (p.Leu4002Ser) rs771049687 0.00001
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633 0.00001
NM_001376.5(DYNC1H1):c.12115A>G (p.Thr4039Ala) rs774809334 0.00001
NM_001376.5(DYNC1H1):c.12418C>T (p.Arg4140Cys) rs764278958 0.00001
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val) rs751754403 0.00001
NM_001376.5(DYNC1H1):c.12512A>G (p.Lys4171Arg) rs771674356 0.00001
NM_001376.5(DYNC1H1):c.12573A>G (p.Gln4191=) rs760020083 0.00001
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018 0.00001
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg) rs776972173 0.00001
NM_001376.5(DYNC1H1):c.12812G>A (p.Arg4271His) rs1434208432 0.00001
NM_001376.5(DYNC1H1):c.12883C>G (p.Gln4295Glu) rs772591144 0.00001
NM_001376.5(DYNC1H1):c.12905G>A (p.Arg4302Gln) rs755680664 0.00001
NM_001376.5(DYNC1H1):c.13105A>G (p.Thr4369Ala) rs1446933049 0.00001
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110 0.00001
NM_001376.5(DYNC1H1):c.13396C>T (p.His4466Tyr) rs1431567490 0.00001
NM_001376.5(DYNC1H1):c.13501G>A (p.Ala4501Thr) rs1341526440 0.00001
NM_001376.5(DYNC1H1):c.13529G>T (p.Cys4510Phe) rs888890361 0.00001
NM_001376.5(DYNC1H1):c.1360C>T (p.Pro454Ser) rs1362114769 0.00001
NM_001376.5(DYNC1H1):c.13663G>A (p.Ala4555Thr) rs375286762 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13812+6G>A rs1258593391 0.00001
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597 0.00001
NM_001376.5(DYNC1H1):c.1461+4A>G rs767995276 0.00001
NM_001376.5(DYNC1H1):c.1620A>G (p.Lys540=) rs1213499788 0.00001
NM_001376.5(DYNC1H1):c.1650G>A (p.Met550Ile) rs1469299067 0.00001
NM_001376.5(DYNC1H1):c.1713G>T (p.Gln571His) rs746635345 0.00001
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu) rs1371614408 0.00001
NM_001376.5(DYNC1H1):c.184C>A (p.Leu62Met) rs777022618 0.00001
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017 0.00001
NM_001376.5(DYNC1H1):c.2052G>C (p.Gln684His) rs1462327866 0.00001
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064 0.00001
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala) rs1001125376 0.00001
NM_001376.5(DYNC1H1):c.2504G>A (p.Arg835His) rs1463717963 0.00001
NM_001376.5(DYNC1H1):c.2584C>T (p.Arg862Cys) rs865971340 0.00001
NM_001376.5(DYNC1H1):c.3015+3A>G rs1057522534 0.00001
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu) rs369033191 0.00001
NM_001376.5(DYNC1H1):c.3130G>T (p.Val1044Leu) rs1035544174 0.00001
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu) rs775900761 0.00001
NM_001376.5(DYNC1H1):c.3444+3G>A rs1475876803 0.00001
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203 0.00001
NM_001376.5(DYNC1H1):c.3572G>A (p.Arg1191His) rs1003718521 0.00001
NM_001376.5(DYNC1H1):c.3583C>T (p.Arg1195Cys) rs767427937 0.00001
NM_001376.5(DYNC1H1):c.3743G>A (p.Arg1248Gln) rs779578539 0.00001
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg) rs763711252 0.00001
NM_001376.5(DYNC1H1):c.4454G>A (p.Arg1485His) rs1305558731 0.00001
NM_001376.5(DYNC1H1):c.4542+6G>A rs375822798 0.00001
NM_001376.5(DYNC1H1):c.4627C>T (p.Arg1543Trp) rs1312121057 0.00001
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186 0.00001
NM_001376.5(DYNC1H1):c.4765A>G (p.Met1589Val) rs376671826 0.00001
NM_001376.5(DYNC1H1):c.4943C>G (p.Ala1648Gly) rs2048175185 0.00001
NM_001376.5(DYNC1H1):c.4976C>T (p.Ala1659Val) rs1452214964 0.00001
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys) rs925942859 0.00001
NM_001376.5(DYNC1H1):c.5017G>A (p.Val1673Ile) rs2048176208 0.00001
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562 0.00001
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568 0.00001
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe) rs1441272851 0.00001
NM_001376.5(DYNC1H1):c.5392A>G (p.Met1798Val) rs2048183332 0.00001
NM_001376.5(DYNC1H1):c.5433+4A>G rs558658822 0.00001
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His) rs768520247 0.00001
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys) rs1424457974 0.00001
NM_001376.5(DYNC1H1):c.5976G>A (p.Lys1992=) rs895478584 0.00001
NM_001376.5(DYNC1H1):c.6405+4C>T rs868691855 0.00001
NM_001376.5(DYNC1H1):c.6405+5G>A rs774226163 0.00001
NM_001376.5(DYNC1H1):c.6502G>A (p.Val2168Ile) rs1567010429 0.00001
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His) rs1377924324 0.00001
NM_001376.5(DYNC1H1):c.6739G>A (p.Val2247Met) rs1064796963 0.00001
NM_001376.5(DYNC1H1):c.679C>A (p.Pro227Thr) rs745425454 0.00001
NM_001376.5(DYNC1H1):c.6857+4C>T rs374773368 0.00001
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser) rs1473788247 0.00001
NM_001376.5(DYNC1H1):c.7186C>T (p.Arg2396Trp) rs763030235 0.00001
NM_001376.5(DYNC1H1):c.7242+4C>T rs760664042 0.00001
NM_001376.5(DYNC1H1):c.7242+5G>A rs770870431 0.00001
NM_001376.5(DYNC1H1):c.7274C>A (p.Pro2425Gln) rs1406145337 0.00001
NM_001376.5(DYNC1H1):c.7291G>A (p.Gly2431Ser) rs773669775 0.00001
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile) rs1595617173 0.00001
NM_001376.5(DYNC1H1):c.7399C>T (p.Arg2467Cys) rs2048316541 0.00001
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln) rs1292509595 0.00001
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln) rs1595617746 0.00001
NM_001376.5(DYNC1H1):c.7864T>C (p.Phe2622Leu) rs1237088147 0.00001
NM_001376.5(DYNC1H1):c.8038A>G (p.Ile2680Val) rs1308813075 0.00001
NM_001376.5(DYNC1H1):c.8177+6A>G rs190495300 0.00001
NM_001376.5(DYNC1H1):c.8178G>A (p.Arg2726=) rs777685040 0.00001
NM_001376.5(DYNC1H1):c.8186G>A (p.Arg2729His) rs1000550855 0.00001
NM_001376.5(DYNC1H1):c.8343+4C>T rs771447934 0.00001
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555 0.00001
NM_001376.5(DYNC1H1):c.8426C>T (p.Ala2809Val) rs759983101 0.00001
NM_001376.5(DYNC1H1):c.8468G>A (p.Arg2823Gln) rs1034689180 0.00001
NM_001376.5(DYNC1H1):c.8507+3A>G rs1167512575 0.00001
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly) rs1475477801 0.00001
NM_001376.5(DYNC1H1):c.8677G>A (p.Val2893Ile) rs1285270824 0.00001
NM_001376.5(DYNC1H1):c.8749G>A (p.Asp2917Asn) rs1595622920 0.00001
NM_001376.5(DYNC1H1):c.8843G>A (p.Arg2948His) rs780690762 0.00001
NM_001376.5(DYNC1H1):c.8876A>G (p.Tyr2959Cys) rs797045536 0.00001
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812 0.00001
NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser) rs1269870036 0.00001
NM_001376.5(DYNC1H1):c.9077A>G (p.Tyr3026Cys) rs1032073396 0.00001
NM_001376.5(DYNC1H1):c.9179G>A (p.Arg3060His) rs1408182872 0.00001
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381 0.00001
NM_001376.5(DYNC1H1):c.9263+3A>G rs751390841 0.00001
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile) rs747831868 0.00001
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys) rs756550022 0.00001
NM_001376.5(DYNC1H1):c.9642+13C>T rs760557941 0.00001
NM_001376.5(DYNC1H1):c.9714C>G (p.Asp3238Glu) rs1220860441 0.00001
NM_001376.5(DYNC1H1):c.9762+6G>A rs773552333 0.00001
NM_001376.5(DYNC1H1):c.994T>C (p.Tyr332His) rs764842673 0.00001
NM_001540.5(HSPB1):c.117G>A (p.Pro39=) rs752555764 0.00001
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro) rs1346600366 0.00001
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816 0.00001
NM_001540.5(HSPB1):c.226G>C (p.Ala76Pro) rs968191590 0.00001
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327 0.00001
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln) rs926257693 0.00001
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe) rs773758650 0.00001
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020 0.00001
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022 0.00001
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser) rs767672401 0.00001
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005 0.00001
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758 0.00001
NM_001540.5(HSPB1):c.349G>A (p.Val117Met) rs1803031652 0.00001
NM_001540.5(HSPB1):c.356A>T (p.Glu119Val) rs759984050 0.00001
NM_001540.5(HSPB1):c.365-5_365-4del rs752802110 0.00001
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys) rs1276548832 0.00001
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486 0.00001
NM_001540.5(HSPB1):c.429-3C>T rs1353004501 0.00001
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749 0.00001
NM_001540.5(HSPB1):c.47G>A (p.Trp16Ter) rs973126266 0.00001
NM_001540.5(HSPB1):c.491C>T (p.Thr164Ile) rs1193492001 0.00001
NM_001540.5(HSPB1):c.508C>A (p.Pro170Thr) rs544435502 0.00001
NM_001540.5(HSPB1):c.570G>C (p.Gln190His) rs764297134 0.00001
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306 0.00001
NM_001540.5(HSPB1):c.91C>G (p.Gln31Glu) rs775728229 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.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.1261C>G (p.Pro421Ala) rs1157450521 0.00001
NM_001605.3(AARS1):c.1285G>A (p.Ala429Thr) rs1446399906 0.00001
NM_001605.3(AARS1):c.1334G>T (p.Arg445Met) rs776515117 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.1426C>T (p.Arg476Trp) rs780059987 0.00001
NM_001605.3(AARS1):c.1435G>A (p.Glu479Lys) rs146082956 0.00001
NM_001605.3(AARS1):c.1504A>G (p.Thr502Ala) rs758003106 0.00001
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln) rs1960156160 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.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.1664G>T (p.Ser555Ile) rs144982168 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.1790G>A (p.Arg597Gln) rs777597230 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001605.3(AARS1):c.1840G>T (p.Ala614Ser) rs780198710 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.1997T>C (p.Val666Ala) rs145056270 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.2084G>A (p.Arg695Gln) rs377378009 0.00001
NM_001605.3(AARS1):c.2095A>T (p.Ile699Phe) rs1427798398 0.00001
NM_001605.3(AARS1):c.2118G>C (p.Leu706Phe) rs201097032 0.00001
NM_001605.3(AARS1):c.2137C>T (p.Pro713Ser) rs750769245 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.2288C>T (p.Ala763Val) rs777776042 0.00001
NM_001605.3(AARS1):c.2335G>A (p.Ala779Thr) rs767954906 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.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.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.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.2845C>G (p.Gln949Glu) rs375263515 0.00001
NM_001605.3(AARS1):c.284A>C (p.His95Pro) rs764793550 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.479+5G>T rs1487772006 0.00001
NM_001605.3(AARS1):c.482T>C (p.Leu161Pro) rs1960417011 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.56A>G (p.Lys19Arg) rs776616726 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.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.726G>A (p.Met242Ile) rs780360628 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.829C>T (p.Arg277Ter) rs200032881 0.00001
NM_001605.3(AARS1):c.835T>C (p.Tyr279His) rs1232484436 0.00001
NM_001605.3(AARS1):c.848T>C (p.Val283Ala) rs761545263 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.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.963A>G (p.Gly321=) rs775592737 0.00001
NM_001605.3(AARS1):c.998G>A (p.Arg333Gln) rs778511459 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.1042A>G (p.Met348Val) rs368832379 0.00001
NM_002047.4(GARS1):c.1087C>G (p.Pro363Ala) rs267601479 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.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.1624A>G (p.Ile542Val) rs1060502837 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.1829T>C (p.Val610Ala) rs1554340666 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.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.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.2177T>C (p.Phe726Ser) rs1397264514 0.00001
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly) rs780858299 0.00001
NM_002047.4(GARS1):c.281C>A (p.Ala94Glu) rs1389930859 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.401A>G (p.Tyr134Cys) rs898879117 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.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.733C>A (p.Gln245Lys) rs756629704 0.00001
NM_002047.4(GARS1):c.737T>G (p.Leu246Arg) rs200437855 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.980G>C (p.Gly327Ala) rs774283805 0.00001
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) rs1022216138 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) rs1033402228 0.00001
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) rs1398038802 0.00001
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 0.00001
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) rs757304363 0.00001
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) rs571142182 0.00001
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) rs149628807 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) rs751446350 0.00001
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718 0.00001
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) rs768685672 0.00001
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1756+5G>A rs1352994155 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) rs1240484547 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995 0.00001
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359 0.00001
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) rs943195178 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) rs370166700 0.00001
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) rs1566446312 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) rs767422655 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180 0.00001
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) rs1042372226 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) rs1462234845 0.00001
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) rs771844457 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) rs1444267409 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 0.00001
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) rs1317637789 0.00001
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) rs543060051 0.00001
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) rs769685389 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) rs1267983821 0.00001
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) rs149294713 0.00001
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala) rs766526224 0.00001
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) rs748491290 0.00001
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) rs763336691 0.00001
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) rs557641477 0.00001
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947 0.00001
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229 0.00001
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747 0.00001
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) rs1361120114 0.00001
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706 0.00001
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880 0.00001
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) rs767665196 0.00001
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) rs750539690 0.00001
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) rs754051200 0.00001
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) rs779086573 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) rs768493454 0.00001
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) rs774700020 0.00001
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) rs899517052 0.00001
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) rs555235493 0.00001
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) rs1323805346 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) rs769771992 0.00001
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) rs963894786 0.00001
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) rs121909080 0.00001
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) rs142747565 0.00001
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) rs779472408 0.00001
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) rs746654999 0.00001
NM_004990.4(MARS1):c.1091+4A>G rs987991720 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter) rs754698410 0.00001
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) rs1280661109 0.00001
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser) rs1450179852 0.00001
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile) rs1484877370 0.00001
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) rs1359914043 0.00001
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723 0.00001
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln) rs750231101 0.00001
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568 0.00001
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter) rs1313001176 0.00001
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys) rs781462684 0.00001
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) rs778085997 0.00001
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile) rs1173899198 0.00001
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys) rs747598332 0.00001
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn) rs375218777 0.00001
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val) rs775880924 0.00001
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys) rs764601965 0.00001
NM_004990.4(MARS1):c.1793G>A (p.Arg598His) rs749954063 0.00001
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser) rs765972233 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn) rs932854507 0.00001
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys) rs1276192658 0.00001
NM_004990.4(MARS1):c.1968-8C>T rs1209991469 0.00001
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr) rs1156891377 0.00001
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe) rs1877703051 0.00001
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp) rs771306648 0.00001
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp) rs587777228 0.00001
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr) rs1051420158 0.00001
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp) rs1386767973 0.00001
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys) rs769280984 0.00001
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met) rs1877717622 0.00001
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly) rs758918563 0.00001
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly) rs773571063 0.00001
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro) rs755480968 0.00001
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala) rs946923506 0.00001
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg) rs1489534290 0.00001
NM_004990.4(MARS1):c.2391+3A>G rs995030286 0.00001
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964 0.00001
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu) rs368995987 0.00001
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val) rs370631429 0.00001
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219 0.00001
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr) rs778165066 0.00001
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081 0.00001
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr) rs28382854 0.00001
NM_004990.4(MARS1):c.2T>A (p.Met1Lys) rs760194380 0.00001
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter) rs912847491 0.00001
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg) rs1037400402 0.00001
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg) rs774655266 0.00001
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306 0.00001
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp) rs776361792 0.00001
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr) rs147034935 0.00001
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr) rs187172640 0.00001
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser) rs1875839426 0.00001
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser) rs1227531274 0.00001
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078 0.00001
NM_004990.4(MARS1):c.770T>C (p.Val257Ala) rs200308742 0.00001
NM_004990.4(MARS1):c.782C>T (p.Ala261Val) rs769280509 0.00001
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574 0.00001
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) rs773474721 0.00001
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu) rs781084022 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.1044+5G>C rs779620367 0.00001
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met) rs745370680 0.00001
NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu) rs767498943 0.00001
NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln) rs372997416 0.00001
NM_006158.5(NEFL):c.1213G>A (p.Val405Met) rs558941336 0.00001
NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser) rs756314395 0.00001
NM_006158.5(NEFL):c.1302G>A (p.Met434Ile) rs922905627 0.00001
NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys) rs1231546543 0.00001
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu) rs773307364 0.00001
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys) rs1249514180 0.00001
NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys) rs749163947 0.00001
NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys) rs773570365 0.00001
NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr) rs151208148 0.00001
NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe) rs1054913532 0.00001
NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly) rs777727985 0.00001
NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu) rs377758736 0.00001
NM_006158.5(NEFL):c.1588G>T (p.Val530Phe) rs749130357 0.00001
NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp) rs769793484 0.00001
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr) rs779888473 0.00001
NM_006158.5(NEFL):c.216C>A (p.Asp72Glu) rs1411798677 0.00001
NM_006158.5(NEFL):c.217C>G (p.Leu73Val) rs755889503 0.00001
NM_006158.5(NEFL):c.235A>G (p.Ile79Val) rs765260132 0.00001
NM_006158.5(NEFL):c.270G>C (p.Glu90Asp) rs767370918 0.00001
NM_006158.5(NEFL):c.418G>A (p.Glu140Lys) rs121913663 0.00001
NM_006158.5(NEFL):c.487G>A (p.Glu163Lys) rs876661155 0.00001
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly) rs752771636 0.00001
NM_006158.5(NEFL):c.530G>T (p.Arg177Leu) rs1450236716 0.00001
NM_006158.5(NEFL):c.637A>G (p.Ile213Val) rs538481538 0.00001
NM_006158.5(NEFL):c.648G>C (p.Leu216Phe) rs35575466 0.00001
NM_006158.5(NEFL):c.690G>C (p.Glu230Asp) rs750224223 0.00001
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr) rs1415523458 0.00001
NM_006158.5(NEFL):c.808G>T (p.Ala270Ser) rs749160052 0.00001
NM_006158.5(NEFL):c.856G>T (p.Val286Leu) rs902640009 0.00001
NM_006158.5(NEFL):c.874G>T (p.Ala292Ser) rs761264386 0.00001
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser) rs762887808 0.00001
NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu) rs771827550 0.00001
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665 0.00001
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr) rs530083542 0.00001
NM_014365.3(HSPB8):c.200G>T (p.Gly67Val) rs771852827 0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser) rs924785682 0.00001
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp) rs977617023 0.00001
NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln) rs1312255584 0.00001
NM_014365.3(HSPB8):c.250G>A (p.Glu84Lys) rs757293016 0.00001
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys) rs769296712 0.00001
NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser) rs1179250162 0.00001
NM_014365.3(HSPB8):c.44G>A (p.Arg15His) rs752348447 0.00001
NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu) rs1403551142 0.00001
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg) rs1256697965 0.00001
NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys) rs200120006 0.00001
NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter) rs759005659 0.00001
NM_014365.3(HSPB8):c.536A>G (p.Glu179Gly) rs863224767 0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243 0.00001
NM_014874.4(MFN2):c.1064A>G (p.Lys355Arg) rs143747551 0.00001
NM_014874.4(MFN2):c.1118G>A (p.Arg373Gln) rs142042485 0.00001
NM_014874.4(MFN2):c.1162G>A (p.Val388Ile) rs924011766 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.1202T>G (p.Leu401Arg) rs1161492440 0.00001
NM_014874.4(MFN2):c.1208T>G (p.Phe403Cys) rs769905428 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.1304C>G (p.Ala435Gly) rs1030984908 0.00001
NM_014874.4(MFN2):c.1318C>T (p.Arg440Cys) rs756110507 0.00001
NM_014874.4(MFN2):c.1367C>T (p.Pro456Leu) rs78658090 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.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.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 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.1778C>T (p.Ser593Leu) rs759372833 0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr) rs1639431440 0.00001
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile) rs200936779 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.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.1995T>G (p.Phe665Leu) rs755219120 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.2060A>G (p.Gln687Arg) rs879253910 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.2162T>C (p.Ile721Thr) rs150946795 0.00001
NM_014874.4(MFN2):c.2185A>G (p.Ser729Gly) rs1274191966 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.31A>G (p.Ile11Val) rs763735861 0.00001
NM_014874.4(MFN2):c.32T>C (p.Ile11Thr) rs777625403 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.541G>A (p.Val181Met) rs863224064 0.00001
NM_014874.4(MFN2):c.608T>C (p.Ile203Thr) rs200715905 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.816+4C>T rs374018931 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.946A>G (p.Lys316Glu) rs1424551887 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_015271.5(TRIM2):c.1028G>C (p.Gly343Ala) rs1488492161 0.00001
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) rs752113810 0.00001
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met) rs756377335 0.00001
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro) rs1231802080 0.00001
NM_015271.5(TRIM2):c.1113G>A (p.Met371Ile) rs761644850 0.00001
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser) rs1393756687 0.00001
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr) rs745973166 0.00001
NM_015271.5(TRIM2):c.119T>C (p.Val40Ala) rs773535787 0.00001
NM_015271.5(TRIM2):c.1348C>T (p.Arg450Ter) rs374278756 0.00001
NM_015271.5(TRIM2):c.1391G>A (p.Arg464His) rs1235210272 0.00001
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser) rs147042335 0.00001
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys) rs1470965446 0.00001
NM_015271.5(TRIM2):c.1609G>A (p.Val537Met) rs1324448372 0.00001
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu) rs113767540 0.00001
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser) rs374300347 0.00001
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His) rs1579646798 0.00001
NM_015271.5(TRIM2):c.1656A>G (p.Ile552Met) rs767256297 0.00001
NM_015271.5(TRIM2):c.166C>T (p.Arg56Trp) rs980047319 0.00001
NM_015271.5(TRIM2):c.1670C>T (p.Pro557Leu) rs778099061 0.00001
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582 0.00001
NM_015271.5(TRIM2):c.1831G>A (p.Asp611Asn) rs371608836 0.00001
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780 0.00001
NM_015271.5(TRIM2):c.1875C>T (p.Cys625=) rs372665843 0.00001
NM_015271.5(TRIM2):c.1910C>T (p.Thr637Ile) rs1769292601 0.00001
NM_015271.5(TRIM2):c.2023-10T>C rs1310667550 0.00001
NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys) rs778183525 0.00001
NM_015271.5(TRIM2):c.506C>T (p.Thr169Met) rs762398531 0.00001
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe) rs754986666 0.00001
NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr) rs1316458872 0.00001
NM_015271.5(TRIM2):c.583C>A (p.Gln195Lys) rs745623327 0.00001
NM_015271.5(TRIM2):c.605+6G>A rs776278913 0.00001
NM_015271.5(TRIM2):c.648C>G (p.Ile216Met) rs1352327505 0.00001
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444 0.00001
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) rs143032564 0.00001
NM_015271.5(TRIM2):c.786A>C (p.Lys262Asn) rs746187978 0.00001
NM_015271.5(TRIM2):c.878C>T (p.Thr293Met) rs767633857 0.00001
NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln) rs750001904 0.00001
NM_015271.5(TRIM2):c.928G>A (p.Glu310Lys) rs1214293124 0.00001
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu) rs1279083060 0.00001
NM_021625.5(TRPV4):c.1007G>A (p.Arg336His) rs768028153 0.00001
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1073C>T (p.Pro358Leu) rs752782460 0.00001
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn) rs774779620 0.00001
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met) rs1238768782 0.00001
NM_021625.5(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096 0.00001
NM_021625.5(TRPV4):c.1148T>C (p.Ile383Thr) rs759729089 0.00001
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr) rs1201172376 0.00001
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met) rs374197231 0.00001
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met) rs757522459 0.00001
NM_021625.5(TRPV4):c.1336C>T (p.Arg446Cys) rs145900289 0.00001
NM_021625.5(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys) rs745759761 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811 0.00001
NM_021625.5(TRPV4):c.1507C>T (p.Arg503Cys) rs750992130 0.00001
NM_021625.5(TRPV4):c.1508G>A (p.Arg503His) rs765199576 0.00001
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala) rs762000967 0.00001
NM_021625.5(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138 0.00001
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829 0.00001
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960 0.00001
NM_021625.5(TRPV4):c.1586T>C (p.Ile529Thr) rs976191720 0.00001
NM_021625.5(TRPV4):c.159T>A (p.Asp53Glu) rs765021989 0.00001
NM_021625.5(TRPV4):c.1600A>G (p.Met534Val) rs761079651 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.1658+5G>A rs756714651 0.00001
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys) rs775092573 0.00001
NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys) rs769769057 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.1909A>T (p.Asn637Tyr) rs1417825919 0.00001
NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys) rs1258802633 0.00001
NM_021625.5(TRPV4):c.2035G>A (p.Gly679Ser) rs1413159026 0.00001
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val) rs114408421 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.2077G>A (p.Val693Met) rs761952727 0.00001
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met) rs1437603973 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter) rs866577166 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser) rs1889833666 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.2209-1G>A rs1262326007 0.00001
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2267T>A (p.Phe756Tyr) rs779238510 0.00001
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu) rs1435404361 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser) rs1188535536 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2440G>T (p.Val814Leu) rs202075458 0.00001
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys) rs748742151 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875 0.00001
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr) rs768849310 0.00001
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly) rs754158623 0.00001
NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys) rs147045782 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His) rs1276147923 0.00001
NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr) rs771139646 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.26G>A (p.Arg9His) rs776163103 0.00001
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser) rs768721947 0.00001
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys) rs747135844 0.00001
NM_021625.5(TRPV4):c.341G>A (p.Arg114His) rs780302795 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021625.5(TRPV4):c.384A>G (p.Ile128Met) rs1891728218 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile) rs998631604 0.00001
NM_021625.5(TRPV4):c.472G>A (p.Val158Met) rs746905653 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_021625.5(TRPV4):c.536G>A (p.Arg179His) rs1362478789 0.00001
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter) rs773622769 0.00001
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly) rs775317084 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg) rs970940485 0.00001
NM_021625.5(TRPV4):c.712+5G>A rs372251308 0.00001
NM_021625.5(TRPV4):c.737T>C (p.Ile246Thr) rs1200887655 0.00001
NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu) rs1323996959 0.00001
NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys) rs1227793261 0.00001
NM_021625.5(TRPV4):c.877G>A (p.Ala293Thr) rs1054889070 0.00001
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685 0.00001
NM_021625.5(TRPV4):c.915G>A (p.Thr305=) rs1565870990 0.00001
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser) rs1257302371 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021625.5(TRPV4):c.940A>G (p.Met314Val) rs151101009 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.1101+1G>A rs769486726 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.1157C>T (p.Ala386Val) rs1427321438 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.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.1366C>T (p.Gln456Ter) rs758524310 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.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.1511C>T (p.Ala504Val) rs1479368676 0.00001
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys) rs1418129935 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.1757G>A (p.Arg586His) rs1184393042 0.00001
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) rs763039409 0.00001
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr) rs900142190 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.2116G>A (p.Ala706Thr) rs762953015 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.235G>A (p.Glu79Lys) rs1359745073 0.00001
NM_030973.4(MED25):c.23C>T (p.Pro8Leu) rs980805046 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) rs535472885 0.00001
NM_030973.4(MED25):c.344C>T (p.Ala115Val) rs764375282 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.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.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.688+20C>T rs763013887 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_030973.4(MED25):c.911C>T (p.Ser304Leu) rs546822136 0.00001
NM_030973.4(MED25):c.931C>G (p.Gln311Glu) rs2074049438 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.1171C>G (p.Pro391Ala) rs1436409162 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.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.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 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.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1397A>G (p.Asn466Ser) rs1159123077 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.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.1608A>G (p.Glu536=) rs1651737692 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 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.1729G>A (p.Ala577Thr) rs1439261714 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg) rs372201662 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 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.1870C>T (p.Arg624Cys) rs140455668 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 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.20G>A (p.Arg7Gln) rs751916168 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 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.439G>A (p.Ala147Thr) rs139875047 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.480C>T (p.Gly160=) rs758848135 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.598A>G (p.Met200Val) rs777419380 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.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.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala) rs1183004393 0.00001
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys) rs1651446094 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.985C>G (p.Arg329Gly) rs775159300 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.(?_11906066)_(12066770_?)dup
NC_000001.10:g.(?_12008023)_(12059162_?)dup
NC_000001.10:g.(?_12030707)_(12071622_?)dup
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.(?_155870169)_(156108907_?)dup
NC_000001.10:g.(?_156083461)_(156110880_?)dup
NC_000001.10:g.(?_156084690)_(156109650_?)dup
NC_000001.10:g.(?_156084707)_(156108897_?)dup
NC_000001.10:g.(?_156084710)_(156085085_?)dup
NC_000001.10:g.(?_156084710)_(156108897_?)dup
NC_000001.10:g.(?_156108851)_(156108897_?)del
NC_000001.10:g.(?_9304994)_(12569078_?)dup
NC_000001.11:g.(?_10232329)_(10371272_?)dup
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000004.12:g.(?_153204511)_(153276150_?)del
NC_000007.13:g.(?_30642630)_(30649366_?)del
NC_000007.13:g.(?_30655492)_(31018859_?)dup
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.13:g.(?_75932030)_(75933490_?)del
NC_000007.13:g.(?_75932030)_(75933490_?)dup
NC_000007.13:g.(?_75932366)_(75934037_?)del
NC_000007.14:g.(?_30598776)_(30598917_?)del
NC_000007.14:g.(?_30615886)_(30633870_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24811829_?)del
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_24810323)_(24811839_?)del
NC_000009.11:g.(?_130216797)_(130224662_?)dup
NC_000009.11:g.(?_130216807)_(130265178_?)dup
NC_000009.11:g.(?_130221262)_(130224672_?)del
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.9:g.(?_62457819)_(62462203_?)dup
NC_000011.9:g.(?_62457839)_(62462203_?)dup
NC_000012.11:g.(?_110221426)_(110224662_?)dup
NC_000012.11:g.(?_110252196)_(110252601_?)del
NC_000012.11:g.(?_119617118)_(119624913_?)dup
NC_000012.11:g.(?_119624810)_(119624913_?)del
NC_000012.11:g.(?_119631484)_(119631663_?)dup
NC_000012.11:g.(?_119631494)_(119631673_?)dup
NC_000012.11:g.(?_57883659)_(57884447_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)dup
NC_000012.11:g.(?_57894084)_(57894325_?)del
NC_000012.11:g.(?_57906514)_(57976962_?)dup
NC_000014.8:g.(?_102228231)_(105861009_?)dup
NC_000014.8:g.(?_102442029)_(105861009_?)del
NC_000014.8:g.(?_102460501)_(102516900_?)del
NC_000014.8:g.(?_102463352)_(102469322_?)del
NC_000014.8:g.(?_102492901)_(102516910_?)dup
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000014.9:g.(?_102026564)_(102050573_?)dup
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)_(70305895_?)del
NC_000016.9:g.(?_70301542)_(70305895_?)del
NC_000016.9:g.(?_70310369)_(70311077_?)del
NC_000016.9:g.(?_70310369)_(70316686_?)dup
NC_000016.9:g.(?_70310389)_(70316666_?)dup
NC_000017.10:g.(?_40688291)_(40690793_?)dup
NC_000017.10:g.(?_40688291)_(40729741_?)dup
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)dup
NC_000019.10:g.(?_49828429)_(49829110_?)del
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NC_000019.9:g.(?_10828909)_(10829089_?)dup
NC_000019.9:g.(?_10828919)_(10829099_?)dup
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NC_000019.9:g.(?_10870394)_(10870507_?)del
NC_000019.9:g.(?_10939692)_(10941723_?)dup
NC_000019.9:g.(?_10940783)_(10941723_?)dup
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) rs2143107785
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) rs2143107974
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) rs2143108019
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) rs1599260536
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) rs764815033
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg) rs2143109259
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) rs1370763282
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala) rs894998392
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu) rs1332288767
NM_000263.4(NAGLU):c.145_147del (p.Ser49del) rs2092906185
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) rs965655357
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser) rs2143110806
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) rs2092927686
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) rs781603010
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) rs770129454
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) rs2092928280
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) rs2092928703
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) rs2092928775
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) rs144238669
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met) rs1217324478
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) rs1274337932
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) rs759978970
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu) rs759978970
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) rs2143114107
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) rs764322586
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) rs2143114630
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) rs2143114887
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His) rs2143076321
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) rs2092930000
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) rs1358789110
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) rs1469781984
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu) rs2143115795
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) rs143906118
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) rs2092930476
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) rs1038367205
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) rs897126193
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu) rs139195906
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) rs1482294617
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro) rs2143076526
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu) rs760180817
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys) rs2143116999
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter) rs2092930997
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) rs86312
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) rs2143076606
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) rs1460838744
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe) rs2092906616
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) rs2092906625
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly) rs1176961335
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met) rs1285791183
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
NM_000263.4(NAGLU):c.28G>A (p.Val10Met) rs1248922504
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) rs2143077245
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) rs1181544224
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) rs1224387286
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val) rs1217361905
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) rs1567890347
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) rs2143077833
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
NM_000263.4(NAGLU):c.383+3A>G
NM_000263.4(NAGLU):c.383+5C>A rs762932040
NM_000263.4(NAGLU):c.383+5C>T
NM_000263.4(NAGLU):c.383+6G>T
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) rs762337946
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) rs2143082071
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) rs141018386
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met) rs2143082294
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg) rs2092910000
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser) rs398123281
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) rs1056643237
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
NM_000263.4(NAGLU):c.610A>G (p.Met204Val) rs2143086735
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) rs1291552393
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) rs2143086833
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro) rs146456266
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) rs2143087937
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro) rs2143088010
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) rs2092914005
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
NM_000263.4(NAGLU):c.764+5G>A
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) rs2143088503
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp) rs988433554
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val) rs988433554
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) rs2143097981
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser) rs968875282
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys) rs1025860195
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del) rs2092905949
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) rs398123282
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) rs2143098654
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val) rs2092905628
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys) rs2143099484
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
NM_001005361.3(DNM2):c.-23_12del (p.Met1fs)
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met) rs753224039
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly) rs1568304280
NM_001005361.3(DNM2):c.102C>G (p.Ile34Met) rs552741402
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu) rs2071834284
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu) rs2071834543
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser) rs2146014211
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly) rs1568304333
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His) rs2071835414
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
NM_001005361.3(DNM2):c.109G>T (p.Val37Leu)
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala) rs587783594
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp) rs1223342362
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys) rs2071896749
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr) rs1568305190
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp) rs2071897159
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr) rs2071897365
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
NM_001005361.3(DNM2):c.1196+4A>G
NM_001005361.3(DNM2):c.1196+613C>G
NM_001005361.3(DNM2):c.1196+619C>T rs748695148
NM_001005361.3(DNM2):c.1196+660T>C rs2146025971
NM_001005361.3(DNM2):c.1196+680A>G rs2071923540
NM_001005361.3(DNM2):c.1196+681A>C rs931176769
NM_001005361.3(DNM2):c.1196+681A>G rs931176769
NM_001005361.3(DNM2):c.1196+686A>G
NM_001005361.3(DNM2):c.1196+701A>T
NM_001005361.3(DNM2):c.1196+704T>C rs1409309807
NM_001005361.3(DNM2):c.1196+707G>C rs2071924630
NM_001005361.3(DNM2):c.1196+708T>C
NM_001005361.3(DNM2):c.1196+715G>A rs1338938129
NM_001005361.3(DNM2):c.1196+723A>G
NM_001005361.3(DNM2):c.1196+729T>G rs1555710681
NM_001005361.3(DNM2):c.1196+740G>T rs2146026442
NM_001005361.3(DNM2):c.1196+745G>T
NM_001005361.3(DNM2):c.1196+761G>A rs1431565635
NM_001005361.3(DNM2):c.126C>A (p.Ala42=)
NM_001005361.3(DNM2):c.1336-3C>A rs2146038756
NM_001005361.3(DNM2):c.1336-5C>G
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr) rs2072020474
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu) rs749154067
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly) rs1555711301
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
NM_001005361.3(DNM2):c.1422+6G>A rs2146039132
NM_001005361.3(DNM2):c.1423-1G>T rs2072180672
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile) rs1568309121
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn) rs764027808
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys) rs2146061357
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met) rs746903992
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val) rs2146061452
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
NM_001005361.3(DNM2):c.1493+5G>A rs2072182574
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
NM_001005361.3(DNM2):c.1514del (p.Gln505fs) rs2146080349
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del) rs752875857
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu) rs2072577212
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del) rs1342132509
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser) rs2072578382
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly) rs1295054396
NM_001005361.3(DNM2):c.161+3G>A rs1555696272
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
NM_001005361.3(DNM2):c.162G>C (p.Arg54=) rs762111033
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1671+3G>A
NM_001005361.3(DNM2):c.1671+3G>C rs942932745
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
NM_001005361.3(DNM2):c.16A>G (p.Met6Val)
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe) rs2072921679
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs) rs2145855560
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala) rs1300578677
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup) rs2072922521
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu) rs1568318798
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile) rs762777422
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
NM_001005361.3(DNM2):c.1781+6G>C
NM_001005361.3(DNM2):c.1781+6G>T rs1568318838
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His) rs2073058875
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met) rs780409124
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser) rs2146181196
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys) rs775361247
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe) rs776410455
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His) rs2146188021
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met) rs2073100886
NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln) rs1008731390
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln) rs752080566
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser) rs2073102227
NM_001005361.3(DNM2):c.2058+3G>A rs747966753
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys) rs1368089327
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe) rs2145855703
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del) rs1324559612
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys) rs2146205490
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn) rs1012446714
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His) rs1160341992
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val) rs2073249809
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser) rs773884005
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His) rs765111629
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr) rs1173091380
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu) rs375350902
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr) rs368325934
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His) rs2146206095
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr) rs779315825
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005361.3(DNM2):c.2292-3C>T
NM_001005361.3(DNM2):c.2292-7C>G rs2073285852
NM_001005361.3(DNM2):c.2292-8C>A rs757620658
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile) rs2073286326
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr) rs1862203120
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn) rs2145855757
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu) rs773124483
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln) rs766387630
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr) rs774220956
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp) rs1221582515
NM_001005361.3(DNM2):c.235+4A>G
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala) rs752357434
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His) rs780738840
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu) rs780738840
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer) rs764391392
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
NM_001005361.3(DNM2):c.2378del (p.Leu793fs) rs2073289875
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg) rs2073290642
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser) rs2073292666
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg) rs751961437
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn) rs1301279979
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu) rs2073294248
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser) rs2146210571
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
NM_001005361.3(DNM2):c.2543+1G>A rs2146210623
NM_001005361.3(DNM2):c.2543+5G>C rs2073295708
NM_001005361.3(DNM2):c.2544-3C>T rs2073330199
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs) rs2146213977
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His) rs2146214048
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu) rs2146214048
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del) rs1599643472
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln) rs746818628
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser) rs1242764198
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro) rs1703984974
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser) rs1014814501
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala) rs2145911597
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser) rs2145911597
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala) rs2071018084
NM_001005361.3(DNM2):c.37G>A (p.Val13Ile)
NM_001005361.3(DNM2):c.385+12G>A
NM_001005361.3(DNM2):c.385+6C>T rs746068458
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
NM_001005361.3(DNM2):c.3G>T (p.Met1Ile)
NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser) rs2145637630
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu) rs1366173686
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
NM_001005361.3(DNM2):c.439G>C (p.Asp147His) rs370086632
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser) rs2071133001
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn) rs2145924541
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn) rs1599529964
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser) rs777564981
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu) rs2068819294
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile) rs2145924827
NM_001005361.3(DNM2):c.589+5C>A rs1290724089
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser) rs2071182880
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys) rs2145637734
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met) rs2145929613
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser) rs1245632083
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser) rs749672066
NM_001005361.3(DNM2):c.700G>A (p.Val234Met) rs377159042
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu) rs2071429703
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val) rs752195631
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg) rs1568298074
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys) rs2071430985
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp) rs552366130
NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly) rs2068820028
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val) rs868210157
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu) rs781546006
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala) rs2071433079
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile) rs747798217
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser) rs1224102421
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly) rs587778235
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu) rs763894364
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu) rs759919549
NM_001005361.3(DNM2):c.931G>A (p.Val311Met) rs2145978014
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu) rs1057518858
NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu) rs2145637847
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn) rs745794161
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001005361.3(DNM2):c.992+20C>G
NM_001005361.3(DNM2):c.992+3A>G rs1053695479
NM_001005361.3(DNM2):c.992+4T>C rs1225723240
NM_001005361.3(DNM2):c.992+4T>G rs1225723240
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
NM_001005373.4(LRSAM1):c.1012C>T (p.Arg338Trp)
NM_001005373.4(LRSAM1):c.1019A>G (p.Gln340Arg)
NM_001005373.4(LRSAM1):c.1035C>G (p.Asp345Glu) rs766701971
NM_001005373.4(LRSAM1):c.1044-7T>A
NM_001005373.4(LRSAM1):c.1055G>T (p.Ser352Ile) rs915109407
NM_001005373.4(LRSAM1):c.1063A>G (p.Ile355Val)
NM_001005373.4(LRSAM1):c.106A>G (p.Ile36Val)
NM_001005373.4(LRSAM1):c.1081A>C (p.Asn361His) rs1835524755
NM_001005373.4(LRSAM1):c.1082A>G (p.Asn361Ser) rs1835524861
NM_001005373.4(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_001005373.4(LRSAM1):c.1092A>G (p.Ile364Met)
NM_001005373.4(LRSAM1):c.110C>G (p.Ser37Cys)
NM_001005373.4(LRSAM1):c.1159+3G>A
NM_001005373.4(LRSAM1):c.1159+5G>A
NM_001005373.4(LRSAM1):c.1165A>C (p.Met389Leu)
NM_001005373.4(LRSAM1):c.1183G>A (p.Glu395Lys) rs2132080972
NM_001005373.4(LRSAM1):c.1217A>G (p.Tyr406Cys)
NM_001005373.4(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_001005373.4(LRSAM1):c.1264G>A (p.Ala422Thr)
NM_001005373.4(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_001005373.4(LRSAM1):c.1270A>G (p.Met424Val) rs750243357
NM_001005373.4(LRSAM1):c.1274A>G (p.Asp425Gly)
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
NM_001005373.4(LRSAM1):c.1311G>A (p.Met437Ile)
NM_001005373.4(LRSAM1):c.1324G>A (p.Ala442Thr)
NM_001005373.4(LRSAM1):c.132T>G (p.Ile44Met)
NM_001005373.4(LRSAM1):c.1332C>A (p.Ser444Arg) rs1299926632
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.1349G>A (p.Ser450Asn)
NM_001005373.4(LRSAM1):c.134C>T (p.Pro45Leu)
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_001005373.4(LRSAM1):c.1382A>G (p.Gln461Arg)
NM_001005373.4(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_001005373.4(LRSAM1):c.1401G>C (p.Met467Ile)
NM_001005373.4(LRSAM1):c.1416G>C (p.Arg472Ser) rs2132092071
NM_001005373.4(LRSAM1):c.1419C>A (p.Ser473Arg) rs1345645228
NM_001005373.4(LRSAM1):c.1430T>C (p.Leu477Ser) rs1835920830
NM_001005373.4(LRSAM1):c.146T>C (p.Phe49Ser) rs942509436
NM_001005373.4(LRSAM1):c.147T>G (p.Phe49Leu)
NM_001005373.4(LRSAM1):c.148G>C (p.Ala50Pro)
NM_001005373.4(LRSAM1):c.1495T>C (p.Ser499Pro)
NM_001005373.4(LRSAM1):c.1503+4T>C
NM_001005373.4(LRSAM1):c.1503+6T>C rs2132098269
NM_001005373.4(LRSAM1):c.1504-14G>A
NM_001005373.4(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_001005373.4(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_001005373.4(LRSAM1):c.158A>G (p.Lys53Arg) rs754095363
NM_001005373.4(LRSAM1):c.1598T>G (p.Leu533Arg)
NM_001005373.4(LRSAM1):c.1605_1607dup (p.Leu536_Glu537insLeu)
NM_001005373.4(LRSAM1):c.160G>A (p.Val54Ile)
NM_001005373.4(LRSAM1):c.1619G>A (p.Ser540Asn)
NM_001005373.4(LRSAM1):c.1642T>A (p.Trp548Arg)
NM_001005373.4(LRSAM1):c.1659A>T (p.Gln553His)
NM_001005373.4(LRSAM1):c.1666T>A (p.Leu556Met)
NM_001005373.4(LRSAM1):c.166C>A (p.Gln56Lys)
NM_001005373.4(LRSAM1):c.1698+6G>A
NM_001005373.4(LRSAM1):c.1698A>G (p.Gln566=) rs1256215388
NM_001005373.4(LRSAM1):c.1714C>G (p.Arg572Gly)
NM_001005373.4(LRSAM1):c.1715G>A (p.Arg572His) rs1451403749
NM_001005373.4(LRSAM1):c.1730T>C (p.Leu577Pro) rs1836124813
NM_001005373.4(LRSAM1):c.173A>G (p.Lys58Arg) rs1235938569
NM_001005373.4(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_001005373.4(LRSAM1):c.1751A>C (p.Glu584Ala)
NM_001005373.4(LRSAM1):c.1753C>G (p.His585Asp) rs1183629673
NM_001005373.4(LRSAM1):c.176T>C (p.Val59Ala) rs1834556433
NM_001005373.4(LRSAM1):c.1773_1774delinsAA (p.His592Asn) rs1836128229
NM_001005373.4(LRSAM1):c.1775A>G (p.His592Arg)
NM_001005373.4(LRSAM1):c.1775A>T (p.His592Leu)
NM_001005373.4(LRSAM1):c.1778A>G (p.His593Arg)
NM_001005373.4(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_001005373.4(LRSAM1):c.1817G>A (p.Gly606Glu)
NM_001005373.4(LRSAM1):c.1819G>T (p.Asp607Tyr) rs1480003668
NM_001005373.4(LRSAM1):c.182T>C (p.Ile61Thr) rs1834556629
NM_001005373.4(LRSAM1):c.1831G>A (p.Val611Met) rs771783337
NM_001005373.4(LRSAM1):c.1840T>C (p.Ser614Pro)
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.1867C>T (p.Leu623Phe)
NM_001005373.4(LRSAM1):c.1870C>T (p.Arg624Trp) rs375938990
NM_001005373.4(LRSAM1):c.1886T>G (p.Leu629Arg) rs1836188217
NM_001005373.4(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_001005373.4(LRSAM1):c.1912+4_1912+5delinsTC rs1836189857
NM_001005373.4(LRSAM1):c.1918A>G (p.Lys640Glu)
NM_001005373.4(LRSAM1):c.191C>T (p.Thr64Met)
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
NM_001005373.4(LRSAM1):c.1922C>T (p.Pro641Leu)
NM_001005373.4(LRSAM1):c.1927A>G (p.Met643Val)
NM_001005373.4(LRSAM1):c.1930G>A (p.Gly644Ser) rs201284198
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_001005373.4(LRSAM1):c.1943C>T (p.Thr648Ile)
NM_001005373.4(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_001005373.4(LRSAM1):c.1964C>T (p.Pro655Leu) rs376913816
NM_001005373.4(LRSAM1):c.1985C>T (p.Ser662Phe)
NM_001005373.4(LRSAM1):c.1987G>A (p.Ala663Thr)
NM_001005373.4(LRSAM1):c.1990C>A (p.Pro664Thr) rs148846371
NM_001005373.4(LRSAM1):c.1990C>T (p.Pro664Ser)
NM_001005373.4(LRSAM1):c.1A>T (p.Met1Leu) rs1399738186
NM_001005373.4(LRSAM1):c.2008G>A (p.Val670Met)
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2023T>A (p.Cys675Ser)
NM_001005373.4(LRSAM1):c.2026G>T (p.Val676Phe)
NM_001005373.4(LRSAM1):c.2029G>A (p.Val677Met)
NM_001005373.4(LRSAM1):c.2029_2046+7del rs1836374325
NM_001005373.4(LRSAM1):c.2032T>C (p.Cys678Arg)
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
NM_001005373.4(LRSAM1):c.2033G>C (p.Cys678Ser) rs2132128518
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001005373.4(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_001005373.4(LRSAM1):c.2046+1G>A
NM_001005373.4(LRSAM1):c.2046_2046+12del rs2132128595
NM_001005373.4(LRSAM1):c.2056A>G (p.Ile686Val) rs1836444367
NM_001005373.4(LRSAM1):c.2060T>C (p.Phe687Ser) rs1836444481
NM_001005373.4(LRSAM1):c.2069G>A (p.Cys690Tyr) rs2132133792
NM_001005373.4(LRSAM1):c.2074C>G (p.His692Asp) rs1836445139
NM_001005373.4(LRSAM1):c.2074C>T (p.His692Tyr) rs1836445139
NM_001005373.4(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_001005373.4(LRSAM1):c.2077G>A (p.Val693Ile)
NM_001005373.4(LRSAM1):c.2077G>C (p.Val693Leu)
NM_001005373.4(LRSAM1):c.2086T>A (p.Cys696Ser) rs2132133880
NM_001005373.4(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_001005373.4(LRSAM1):c.2087G>T (p.Cys696Phe)
NM_001005373.4(LRSAM1):c.2096G>T (p.Cys699Phe) rs1275428830
NM_001005373.4(LRSAM1):c.2098T>C (p.Cys700Arg)
NM_001005373.4(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_001005373.4(LRSAM1):c.2110C>A (p.Arg704Ser) rs150984897
NM_001005373.4(LRSAM1):c.2120C>G (p.Pro707Arg)
NM_001005373.4(LRSAM1):c.2161_2163del (p.His721del) rs1196955593
NM_001005373.4(LRSAM1):c.247A>G (p.Ile83Val)
NM_001005373.4(LRSAM1):c.253G>A (p.Val85Ile) rs765537196
NM_001005373.4(LRSAM1):c.253G>T (p.Val85Phe)
NM_001005373.4(LRSAM1):c.262C>A (p.Leu88Ile) rs757094037
NM_001005373.4(LRSAM1):c.275A>G (p.Gln92Arg) rs769569457
NM_001005373.4(LRSAM1):c.301G>A (p.Gly101Arg) rs558871054
NM_001005373.4(LRSAM1):c.322-2_322-1insACGTGGAAA
NM_001005373.4(LRSAM1):c.341A>G (p.Asn114Ser) rs2132010693
NM_001005373.4(LRSAM1):c.355C>G (p.Leu119Val) rs1224073398
NM_001005373.4(LRSAM1):c.361C>T (p.Arg121Cys)
NM_001005373.4(LRSAM1):c.368T>A (p.Ile123Asn)
NM_001005373.4(LRSAM1):c.370G>A (p.Gly124Arg)
NM_001005373.4(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_001005373.4(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_001005373.4(LRSAM1):c.405A>G (p.Lys135=) rs1834732440
NM_001005373.4(LRSAM1):c.406+5G>A rs1834732559
NM_001005373.4(LRSAM1):c.431A>C (p.Asp144Ala)
NM_001005373.4(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_001005373.4(LRSAM1):c.44G>T (p.Arg15Leu)
NM_001005373.4(LRSAM1):c.484A>T (p.Ile162Phe)
NM_001005373.4(LRSAM1):c.497C>G (p.Pro166Arg) rs142085060
NM_001005373.4(LRSAM1):c.506T>A (p.Leu169Gln) rs2132014587
NM_001005373.4(LRSAM1):c.518G>A (p.Arg173Gln)
NM_001005373.4(LRSAM1):c.521C>T (p.Thr174Ile) rs2132014659
NM_001005373.4(LRSAM1):c.528+6T>C
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.533T>C (p.Leu178Pro)
NM_001005373.4(LRSAM1):c.544G>T (p.Ala182Ser) rs780636250
NM_001005373.4(LRSAM1):c.553A>G (p.Met185Val)
NM_001005373.4(LRSAM1):c.565C>A (p.Pro189Thr)
NM_001005373.4(LRSAM1):c.572A>T (p.Glu191Val)
NM_001005373.4(LRSAM1):c.578G>A (p.Cys193Tyr)
NM_001005373.4(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_001005373.4(LRSAM1):c.595G>A (p.Ala199Thr) rs745326217
NM_001005373.4(LRSAM1):c.618A>G (p.Lys206=)
NM_001005373.4(LRSAM1):c.620-7_620-6del rs1468536961
NM_001005373.4(LRSAM1):c.625G>A (p.Gly209Arg)
NM_001005373.4(LRSAM1):c.640C>T (p.Pro214Ser)
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.643C>G (p.Pro215Ala) rs765389102
NM_001005373.4(LRSAM1):c.676G>A (p.Asp226Asn) rs1419447675
NM_001005373.4(LRSAM1):c.684C>G (p.Ile228Met) rs376671005
NM_001005373.4(LRSAM1):c.689A>T (p.Asn230Ile) rs2132047940
NM_001005373.4(LRSAM1):c.695G>T (p.Arg232Leu)
NM_001005373.4(LRSAM1):c.707A>G (p.Asp236Gly)
NM_001005373.4(LRSAM1):c.716C>G (p.Thr239Arg)
NM_001005373.4(LRSAM1):c.716C>T (p.Thr239Met) rs565827207
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001005373.4(LRSAM1):c.735G>C (p.Glu245Asp) rs2132048170
NM_001005373.4(LRSAM1):c.756G>T (p.Arg252Ser)
NM_001005373.4(LRSAM1):c.766T>C (p.Tyr256His) rs2132060933
NM_001005373.4(LRSAM1):c.781-15A>T
NM_001005373.4(LRSAM1):c.781G>A (p.Glu261Lys) rs2132062152
NM_001005373.4(LRSAM1):c.792G>A (p.Met264Ile) rs773572737
NM_001005373.4(LRSAM1):c.815G>A (p.Arg272Gln)
NM_001005373.4(LRSAM1):c.818G>A (p.Arg273His) rs368088593
NM_001005373.4(LRSAM1):c.818G>C (p.Arg273Pro)
NM_001005373.4(LRSAM1):c.823G>A (p.Glu275Lys) rs767107676
NM_001005373.4(LRSAM1):c.836G>A (p.Arg279Gln)
NM_001005373.4(LRSAM1):c.842A>G (p.His281Arg)
NM_001005373.4(LRSAM1):c.847C>G (p.Gln283Glu)
NM_001005373.4(LRSAM1):c.850C>T (p.Leu284Phe) rs1835452387
NM_001005373.4(LRSAM1):c.866G>A (p.Ser289Asn)
NM_001005373.4(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_001005373.4(LRSAM1):c.904-20A>T rs1588120687
NM_001005373.4(LRSAM1):c.904-3C>T
NM_001005373.4(LRSAM1):c.917T>C (p.Leu306Pro) rs140151379
NM_001005373.4(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_001005373.4(LRSAM1):c.929T>G (p.Leu310Arg)
NM_001005373.4(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_001005373.4(LRSAM1):c.951_952inv (p.Asn318Asp)
NM_001005373.4(LRSAM1):c.953A>G (p.Asn318Ser)
NM_001005373.4(LRSAM1):c.961C>T (p.Arg321Trp)
NM_001005373.4(LRSAM1):c.982C>G (p.Leu328Val) rs2132064383
NM_001122955.4(BSCL2):c.1005+3C>T rs372166360
NM_001122955.4(BSCL2):c.1022G>C (p.Arg341Thr)
NM_001122955.4(BSCL2):c.1024G>C (p.Asp342His)
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.1063C>T (p.His355Tyr)
NM_001122955.4(BSCL2):c.1072+3A>G
NM_001122955.4(BSCL2):c.1075C>T (p.Pro359Ser) rs2134690233
NM_001122955.4(BSCL2):c.1087GAG[1] (p.Glu364del)
NM_001122955.4(BSCL2):c.1090_1091inv (p.Glu364Ser)
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
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.1141C>A (p.Pro381Thr) rs1294077057
NM_001122955.4(BSCL2):c.1150A>G (p.Thr384Ala)
NM_001122955.4(BSCL2):c.1152A>G (p.Thr384=)
NM_001122955.4(BSCL2):c.1153G>C (p.Glu385Gln)
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.1220C>T (p.Pro407Leu)
NM_001122955.4(BSCL2):c.1233T>C (p.Asp411=)
NM_001122955.4(BSCL2):c.1235-2_1235-1insCCAA
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.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.1295C>T (p.Pro432Leu)
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.1330G>A (p.Gly444Ser) rs1488410118
NM_001122955.4(BSCL2):c.1352G>C (p.Gly451Ala) rs779952369
NM_001122955.4(BSCL2):c.1373C>T (p.Thr458Ile) rs1945272396
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.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.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.289G>A (p.Val97Met) rs2083510633
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.350A>G (p.Tyr117Cys)
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.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.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.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.506C>T (p.Pro169Leu) rs1325008761
NM_001122955.4(BSCL2):c.509A>T (p.Tyr170Phe)
NM_001122955.4(BSCL2):c.511C>T (p.Arg171Cys)
NM_001122955.4(BSCL2):c.512G>A (p.Arg171His) rs377609967
NM_001122955.4(BSCL2):c.555A>T (p.Gln185His)
NM_001122955.4(BSCL2):c.559T>G (p.Leu187Val)
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.631-5G>A
NM_001122955.4(BSCL2):c.631-7C>A rs1945347921
NM_001122955.4(BSCL2):c.652G>C (p.Asp218His)
NM_001122955.4(BSCL2):c.666G>A (p.Met222Ile)
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.711A>C (p.Ala237=)
NM_001122955.4(BSCL2):c.742T>C (p.Tyr248His) rs1945345474
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.748G>A (p.Asp250Asn)
NM_001122955.4(BSCL2):c.765G>T (p.Ser255=) rs774120735
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
NM_001122955.4(BSCL2):c.790_792del (p.Ile264del)
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.812T>A (p.Ile271Asn) rs2134695330
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.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.864-16C>G
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.908T>C (p.Val303Ala)
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>T (p.Leu310Phe)
NM_001122955.4(BSCL2):c.932G>A (p.Ser311Asn)
NM_001122955.4(BSCL2):c.947T>G (p.Phe316Cys) rs1470975752
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_001190716.2(DNM2):c.2544-3_2544-1del
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val) rs1602487890
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1028G>T (p.Arg343Leu)
NM_001303256.3(MORC2):c.1073G>A (p.Arg358Gln)
NM_001303256.3(MORC2):c.1074-20G>C
NM_001303256.3(MORC2):c.1074-7T>G
NM_001303256.3(MORC2):c.1075G>T (p.Ala359Ser) rs2147257419
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs) rs1602486072
NM_001303256.3(MORC2):c.109G>C (p.Val37Leu)
NM_001303256.3(MORC2):c.1129C>T (p.Arg377Trp)
NM_001303256.3(MORC2):c.1130G>A (p.Arg377Gln)
NM_001303256.3(MORC2):c.1133A>T (p.Asp378Val) rs2040683848
NM_001303256.3(MORC2):c.1166G>A (p.Arg389Gln)
NM_001303256.3(MORC2):c.1186A>G (p.Lys396Glu)
NM_001303256.3(MORC2):c.1191G>A (p.Val397=)
NM_001303256.3(MORC2):c.1206dup (p.Gly403fs)
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val) rs1489926879
NM_001303256.3(MORC2):c.1215-11_1215-10delinsCT
NM_001303256.3(MORC2):c.1226GGGTTGTTG[3] (p.409GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.123-3C>T
NM_001303256.3(MORC2):c.1245T>A (p.Asp415Glu)
NM_001303256.3(MORC2):c.1250C>G (p.Pro417Arg) rs2147256638
NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg) rs2147256585
NM_001303256.3(MORC2):c.1304A>T (p.Glu435Val)
NM_001303256.3(MORC2):c.1305G>T (p.Glu435Asp) rs2040679430
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg) rs2040678770
NM_001303256.3(MORC2):c.1346A>G (p.Gln449Arg) rs2040678442
NM_001303256.3(MORC2):c.1366A>G (p.Ile456Val) rs1237819801
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=) rs777612473
NM_001303256.3(MORC2):c.1369G>A (p.Ala457Thr)
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1381A>G (p.Ile461Val) rs2147255910
NM_001303256.3(MORC2):c.1430A>T (p.Gln477Leu)
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp) rs897870181
NM_001303256.3(MORC2):c.1459C>T (p.Arg487Cys)
NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp) rs1356503784
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys) rs1602485184
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1531C>T (p.Gln511Ter)
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg) rs2040663423
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys) rs1407971807
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1565C>T (p.Thr522Ile) rs778121452
NM_001303256.3(MORC2):c.1569G>A (p.Trp523Ter) rs2147253941
NM_001303256.3(MORC2):c.1576T>C (p.Ser526Pro)
NM_001303256.3(MORC2):c.158-5T>A
NM_001303256.3(MORC2):c.158-5T>G rs764556739
NM_001303256.3(MORC2):c.158-8T>C
NM_001303256.3(MORC2):c.1586C>A (p.Pro529His)
NM_001303256.3(MORC2):c.1592C>G (p.Pro531Arg)
NM_001303256.3(MORC2):c.160A>G (p.Arg54Gly)
NM_001303256.3(MORC2):c.1626G>T (p.Lys542Asn) rs2040655936
NM_001303256.3(MORC2):c.16T>G (p.Tyr6Asp)
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met) rs2040654543
NM_001303256.3(MORC2):c.1727A>C (p.Glu576Ala) rs2147252673
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser) rs756912389
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val) rs760345377
NM_001303256.3(MORC2):c.1738-17T>A
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr) rs770774096
NM_001303256.3(MORC2):c.1804T>A (p.Ser602Thr)
NM_001303256.3(MORC2):c.1812+5dup
NM_001303256.3(MORC2):c.1813-3T>A rs1825781520
NM_001303256.3(MORC2):c.1813-6T>G
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu) rs1602482166
NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys) rs373963382
NM_001303256.3(MORC2):c.1828C>T (p.Pro610Ser)
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg) rs751657222
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.1909C>A (p.Pro637Thr) rs777740636
NM_001303256.3(MORC2):c.190C>G (p.Leu64Val) rs2147286618
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu) rs1602481898
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn) rs763542037
NM_001303256.3(MORC2):c.1960C>T (p.Pro654Ser)
NM_001303256.3(MORC2):c.1972G>A (p.Ala658Thr)
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln) rs769791429
NM_001303256.3(MORC2):c.1976G>C (p.Arg659Pro) rs769791429
NM_001303256.3(MORC2):c.1984G>A (p.Ala662Thr)
NM_001303256.3(MORC2):c.1988G>A (p.Ser663Asn) rs2147248609
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu) rs747230744
NM_001303256.3(MORC2):c.2023C>G (p.Arg675Gly)
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
NM_001303256.3(MORC2):c.2032G>A (p.Ala678Thr)
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala) rs2040630159
NM_001303256.3(MORC2):c.2072_2074delinsACC (p.Leu691_Val692delinsHisLeu) rs2147248271
NM_001303256.3(MORC2):c.2076GCA[1] (p.Gln694del) rs2147248245
NM_001303256.3(MORC2):c.2119C>G (p.Arg707Gly)
NM_001303256.3(MORC2):c.2122G>A (p.Glu708Lys)
NM_001303256.3(MORC2):c.2134C>T (p.Pro712Ser)
NM_001303256.3(MORC2):c.2138A>G (p.Lys713Arg)
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala) rs2040627406
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val) rs1602481313
NM_001303256.3(MORC2):c.2193G>A (p.Pro731=)
NM_001303256.3(MORC2):c.219G>A (p.Met73Ile)
NM_001303256.3(MORC2):c.2213G>A (p.Arg738Gln)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2221G>A (p.Ala741Thr)
NM_001303256.3(MORC2):c.223C>T (p.Pro75Ser)
NM_001303256.3(MORC2):c.2247GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr) rs2040618367
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln) rs754626172
NM_001303256.3(MORC2):c.2290T>C (p.Phe764Leu)
NM_001303256.3(MORC2):c.2291T>A (p.Phe764Tyr)
NM_001303256.3(MORC2):c.2325+18G>C
NM_001303256.3(MORC2):c.2326-11T>A
NM_001303256.3(MORC2):c.2326C>T (p.Leu776Phe)
NM_001303256.3(MORC2):c.2329T>C (p.Ser777Pro)
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp) rs751495570
NM_001303256.3(MORC2):c.2361C>A (p.Asp787Glu) rs766384151
NM_001303256.3(MORC2):c.2372C>G (p.Ala791Gly)
NM_001303256.3(MORC2):c.2379A>C (p.Lys793Asn)
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn) rs2040606407
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2386G>A (p.Gly796Arg)
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn) rs2040863533
NM_001303256.3(MORC2):c.2405G>A (p.Arg802His)
NM_001303256.3(MORC2):c.2423A>G (p.Tyr808Cys)
NM_001303256.3(MORC2):c.2431C>T (p.Arg811Cys)
NM_001303256.3(MORC2):c.2443G>T (p.Val815Leu)
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser) rs2040597405
NM_001303256.3(MORC2):c.2454C>T (p.Gly818=)
NM_001303256.3(MORC2):c.2456A>C (p.Lys819Thr)
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu) rs2040597232
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln) rs764479914
NM_001303256.3(MORC2):c.2522+17G>C
NM_001303256.3(MORC2):c.2522+3A>G rs2040596380
NM_001303256.3(MORC2):c.2596C>T (p.Gln866Ter)
NM_001303256.3(MORC2):c.2610G>C (p.Glu870Asp)
NM_001303256.3(MORC2):c.2617G>C (p.Val873Leu) rs138350528
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val) rs1602477856
NM_001303256.3(MORC2):c.2635C>G (p.Gln879Glu) rs1399798893
NM_001303256.3(MORC2):c.2644G>C (p.Ala882Pro)
NM_001303256.3(MORC2):c.2666C>T (p.Ser889Phe)
NM_001303256.3(MORC2):c.2678G>C (p.Arg893Pro)
NM_001303256.3(MORC2):c.2680A>G (p.Ile894Val)
NM_001303256.3(MORC2):c.2684A>G (p.Glu895Gly)
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.269G>A (p.Arg90Gln)
NM_001303256.3(MORC2):c.2719A>T (p.Thr907Ser) rs2147240880
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2738A>G (p.Gln913Arg)
NM_001303256.3(MORC2):c.2747+4del
NM_001303256.3(MORC2):c.2747G>A (p.Arg916Gln)
NM_001303256.3(MORC2):c.2748-3T>C rs1602477344
NM_001303256.3(MORC2):c.2748-6_2748-4del rs1407551364
NM_001303256.3(MORC2):c.2759G>A (p.Arg920Gln) rs762057484
NM_001303256.3(MORC2):c.2779T>C (p.Phe927Leu)
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn) rs1413895387
NM_001303256.3(MORC2):c.2798A>C (p.Gln933Pro) rs2147240279
NM_001303256.3(MORC2):c.2813A>G (p.Asn938Ser) rs1349107983
NM_001303256.3(MORC2):c.2827A>G (p.Ile943Val)
NM_001303256.3(MORC2):c.284C>T (p.Thr95Ile)
NM_001303256.3(MORC2):c.2852T>G (p.Phe951Cys)
NM_001303256.3(MORC2):c.2902C>T (p.Arg968Cys)
NM_001303256.3(MORC2):c.2912C>T (p.Ser971Phe)
NM_001303256.3(MORC2):c.2915G>A (p.Arg972Gln) rs1278082078
NM_001303256.3(MORC2):c.2950G>A (p.Glu984Lys)
NM_001303256.3(MORC2):c.2968A>C (p.Thr990Pro)
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del) rs2040516792
NM_001303256.3(MORC2):c.3007G>A (p.Ala1003Thr)
NM_001303256.3(MORC2):c.3008C>T (p.Ala1003Val)
NM_001303256.3(MORC2):c.3024G>A (p.Val1008=)
NM_001303256.3(MORC2):c.3046A>G (p.Thr1016Ala)
NM_001303256.3(MORC2):c.3064G>A (p.Ala1022Thr)
NM_001303256.3(MORC2):c.3082A>G (p.Ile1028Val)
NM_001303256.3(MORC2):c.318G>A (p.Ser106=)
NM_001303256.3(MORC2):c.325A>G (p.Met109Val)
NM_001303256.3(MORC2):c.326T>C (p.Met109Thr)
NM_001303256.3(MORC2):c.335G>A (p.Gly112Glu)
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr) rs2040817042
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.35C>G (p.Ala12Gly)
NM_001303256.3(MORC2):c.361A>G (p.Lys121Glu) rs2040816732
NM_001303256.3(MORC2):c.398C>T (p.Thr133Met)
NM_001303256.3(MORC2):c.419T>C (p.Ile140Thr)
NM_001303256.3(MORC2):c.427-3C>T
NM_001303256.3(MORC2):c.439C>G (p.Leu147Val)
NM_001303256.3(MORC2):c.464G>A (p.Arg155Gln)
NM_001303256.3(MORC2):c.480C>A (p.Asp160Glu)
NM_001303256.3(MORC2):c.518A>G (p.Tyr173Cys)
NM_001303256.3(MORC2):c.530C>T (p.Pro177Leu) rs2147267049
NM_001303256.3(MORC2):c.539C>G (p.Thr180Ser) rs1344522060
NM_001303256.3(MORC2):c.560A>T (p.Gln187Leu)
NM_001303256.3(MORC2):c.564T>G (p.Phe188Leu) rs1569195312
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.585C>T (p.Ser195=) rs751813402
NM_001303256.3(MORC2):c.587-3C>T
NM_001303256.3(MORC2):c.595G>A (p.Val199Met) rs752850286
NM_001303256.3(MORC2):c.603C>T (p.Ile201=)
NM_001303256.3(MORC2):c.619A>G (p.Met207Val)
NM_001303256.3(MORC2):c.633G>C (p.Glu211Asp) rs1049739010
NM_001303256.3(MORC2):c.658C>T (p.Pro220Ser)
NM_001303256.3(MORC2):c.671A>G (p.Gln224Arg)
NM_001303256.3(MORC2):c.672G>T (p.Gln224His) rs893153652
NM_001303256.3(MORC2):c.68+4A>C
NM_001303256.3(MORC2):c.700A>G (p.Lys234Glu) rs199928683
NM_001303256.3(MORC2):c.704del (p.Pro235fs) rs2040742194
NM_001303256.3(MORC2):c.706G>C (p.Glu236Gln)
NM_001303256.3(MORC2):c.712C>A (p.Arg238Ser) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.713G>T (p.Arg238Leu) rs367766290
NM_001303256.3(MORC2):c.721C>T (p.Arg241Cys)
NM_001303256.3(MORC2):c.722G>A (p.Arg241His)
NM_001303256.3(MORC2):c.728A>G (p.Tyr243Cys)
NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.802T>C (p.Ser268Pro) rs2040740411
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.916G>A (p.Ala306Thr) rs1320772373
NM_001303256.3(MORC2):c.931A>G (p.Ser311Gly) rs1368116984
NM_001303256.3(MORC2):c.955C>T (p.Arg319Cys)
NM_001303256.3(MORC2):c.95_96delinsGT (p.Ala32Gly)
NM_001303256.3(MORC2):c.987+4A>C
NM_001303256.3(MORC2):c.988-2del rs2147260886
NM_001303256.3(MORC2):c.988-5T>G
NM_001303256.3(MORC2):c.988G>A (p.Val330Met) rs1390155636
NM_001303256.3(MORC2):c.988G>T (p.Val330Leu)
NM_001303256.3(MORC2):c.991A>G (p.Met331Val)
NM_001365951.3(KIF1B):c.*1_*4dup (p.Ter1817=) rs2102365849
NM_001365951.3(KIF1B):c.1037+4C>T rs2102222404
NM_001365951.3(KIF1B):c.1038A>G (p.Arg346=)
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.1064A>C (p.Lys355Thr)
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.1179T>C (p.Asp393=) rs1060501914
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.1308G>T (p.Met436Ile)
NM_001365951.3(KIF1B):c.1319C>G (p.Thr440Ser) rs1649455397
NM_001365951.3(KIF1B):c.1328C>T (p.Pro443Leu)
NM_001365951.3(KIF1B):c.1345A>G (p.Ser449Gly)
NM_001365951.3(KIF1B):c.1346G>T (p.Ser449Ile)
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.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.1450A>T (p.Ile484Phe) rs2102247580
NM_001365951.3(KIF1B):c.1486C>T (p.Arg496Cys)
NM_001365951.3(KIF1B):c.1487G>A (p.Arg496His) rs1418377932
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+6G>A
NM_001365951.3(KIF1B):c.1515A>G (p.Arg505=)
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.157G>A (p.Asp53Asn)
NM_001365951.3(KIF1B):c.1589A>G (p.Lys530Arg)
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.1591-11A>G
NM_001365951.3(KIF1B):c.1612A>G (p.Asn538Asp) rs1569742672
NM_001365951.3(KIF1B):c.161A>G (p.Tyr54Cys)
NM_001365951.3(KIF1B):c.1671-3C>A
NM_001365951.3(KIF1B):c.1671-3C>G rs1302986414
NM_001365951.3(KIF1B):c.1671G>T (p.Arg557Ser)
NM_001365951.3(KIF1B):c.1694G>A (p.Arg565Gln)
NM_001365951.3(KIF1B):c.1697G>T (p.Arg566Leu) rs751881065
NM_001365951.3(KIF1B):c.1717G>A (p.Gly573Arg)
NM_001365951.3(KIF1B):c.1720G>A (p.Ala574Thr)
NM_001365951.3(KIF1B):c.1720G>C (p.Ala574Pro) rs749223318
NM_001365951.3(KIF1B):c.1731A>G (p.Lys577=)
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+1G>T
NM_001365951.3(KIF1B):c.1777+5G>C
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.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.1819G>A (p.Val607Ile)
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) rs756935623
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+3G>A
NM_001365951.3(KIF1B):c.1862-1_1881dup
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.1906C>G (p.His636Asp) rs772578159
NM_001365951.3(KIF1B):c.1909C>G (p.Pro637Ala)
NM_001365951.3(KIF1B):c.1921C>T (p.Arg641Ter) rs1650296802
NM_001365951.3(KIF1B):c.1925C>T (p.Ala642Val)
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.1955C>A (p.Thr652Asn) rs142881321
NM_001365951.3(KIF1B):c.1958C>G (p.Pro653Arg)
NM_001365951.3(KIF1B):c.1969G>A (p.Val657Met)
NM_001365951.3(KIF1B):c.2069A>G (p.Lys690Arg) rs2102259539
NM_001365951.3(KIF1B):c.2126G>A (p.Ser709Asn)
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.2255G>A (p.Arg752Gln)
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.2311G>A (p.Val771Met)
NM_001365951.3(KIF1B):c.2358+1G>A rs1651536655
NM_001365951.3(KIF1B):c.2358G>C (p.Lys786Asn)
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.2390C>T (p.Thr797Ile) rs767564247
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.2464C>T (p.Arg822Cys)
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.2538-3T>C
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.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.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.2620G>A (p.Val874Met)
NM_001365951.3(KIF1B):c.2624C>A (p.Thr875Asn)
NM_001365951.3(KIF1B):c.2626G>A (p.Gly876Ser)
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.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.2676-3T>C
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>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.2753C>T (p.Ser918Phe)
NM_001365951.3(KIF1B):c.2776G>A (p.Glu926Lys)
NM_001365951.3(KIF1B):c.2786A>T (p.Asp929Val) rs2102301786
NM_001365951.3(KIF1B):c.2837A>G (p.Asp946Gly) rs2102301877
NM_001365951.3(KIF1B):c.2854G>C (p.Gly952Arg)
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.2918T>G (p.Val973Gly)
NM_001365951.3(KIF1B):c.2924+5G>A
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.2980G>T (p.Ala994Ser)
NM_001365951.3(KIF1B):c.3003A>G (p.Glu1001=) rs1652092259
NM_001365951.3(KIF1B):c.3008G>A (p.Arg1003Gln)
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.3032A>G (p.Gln1011Arg)
NM_001365951.3(KIF1B):c.3034G>A (p.Ala1012Thr)
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+3A>T rs753646018
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.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.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.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.3170C>G (p.Ser1057Cys)
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+3A>G
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.3323_3324delinsCA (p.Gly1108Ala)
NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)
NM_001365951.3(KIF1B):c.333A>G (p.Gln111=) rs2102186835
NM_001365951.3(KIF1B):c.3359G>A (p.Arg1120Gln)
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.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.3459G>T (p.Glu1153Asp)
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.3510G>T (p.Gln1170His)
NM_001365951.3(KIF1B):c.3516T>G (p.Ile1172Met)
NM_001365951.3(KIF1B):c.352A>G (p.Ile118Val)
NM_001365951.3(KIF1B):c.3540T>G (p.Phe1180Leu)
NM_001365951.3(KIF1B):c.3576A>C (p.Glu1192Asp)
NM_001365951.3(KIF1B):c.3607C>A (p.His1203Asn)
NM_001365951.3(KIF1B):c.3610C>G (p.Leu1204Val)
NM_001365951.3(KIF1B):c.3620A>G (p.Gln1207Arg)
NM_001365951.3(KIF1B):c.3628A>G (p.Asn1210Asp)
NM_001365951.3(KIF1B):c.3644C>T (p.Pro1215Leu) rs369255811
NM_001365951.3(KIF1B):c.3649C>G (p.Arg1217Gly)
NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His) rs1652465916
NM_001365951.3(KIF1B):c.3655T>A (p.Phe1219Ile)
NM_001365951.3(KIF1B):c.3691C>T (p.Pro1231Ser)
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.3760G>A (p.Val1254Ile) rs1490841470
NM_001365951.3(KIF1B):c.3764G>C (p.Trp1255Ser) rs2102326792
NM_001365951.3(KIF1B):c.3776G>A (p.Ser1259Asn) rs756530731
NM_001365951.3(KIF1B):c.3785A>G (p.Glu1262Gly)
NM_001365951.3(KIF1B):c.3798-3T>C
NM_001365951.3(KIF1B):c.3812T>C (p.Val1271Ala) rs756516917
NM_001365951.3(KIF1B):c.3815T>C (p.Val1272Ala)
NM_001365951.3(KIF1B):c.3834G>T (p.Leu1278Phe)
NM_001365951.3(KIF1B):c.3848C>A (p.Thr1283Lys)
NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)
NM_001365951.3(KIF1B):c.3890C>T (p.Thr1297Ile)
NM_001365951.3(KIF1B):c.3892A>G (p.Ile1298Val) rs529804940
NM_001365951.3(KIF1B):c.3893T>C (p.Ile1298Thr)
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.3927A>C (p.Lys1309Asn)
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.399C>G (p.Asn133Lys) rs996589396
NM_001365951.3(KIF1B):c.400T>C (p.Cys134Arg)
NM_001365951.3(KIF1B):c.4046A>C (p.Asn1349Thr) rs1462863753
NM_001365951.3(KIF1B):c.4052G>C (p.Ser1351Thr)
NM_001365951.3(KIF1B):c.4060T>C (p.Phe1354Leu)
NM_001365951.3(KIF1B):c.4066C>T (p.Arg1356Cys) rs1231187230
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.4139A>T (p.Lys1380Met)
NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)
NM_001365951.3(KIF1B):c.4151C>T (p.Thr1384Ile)
NM_001365951.3(KIF1B):c.415T>G (p.Ser139Ala)
NM_001365951.3(KIF1B):c.4186C>A (p.Gln1396Lys)
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.4225T>C (p.Tyr1409His)
NM_001365951.3(KIF1B):c.422C>G (p.Ser141Cys) rs2102194265
NM_001365951.3(KIF1B):c.4237G>A (p.Ala1413Thr) rs1553170117
NM_001365951.3(KIF1B):c.4255C>T (p.Arg1419Cys)
NM_001365951.3(KIF1B):c.4264C>T (p.Arg1422Cys)
NM_001365951.3(KIF1B):c.4280G>C (p.Ser1427Thr) rs755113137
NM_001365951.3(KIF1B):c.4298_4299delinsGG (p.Pro1433Arg)
NM_001365951.3(KIF1B):c.430-15C>G
NM_001365951.3(KIF1B):c.4305-2A>T
NM_001365951.3(KIF1B):c.4310G>A (p.Arg1437Gln)
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+4A>T
NM_001365951.3(KIF1B):c.4388A>G (p.Lys1463Arg)
NM_001365951.3(KIF1B):c.4390A>G (p.Ile1464Val)
NM_001365951.3(KIF1B):c.4405G>A (p.Val1469Met) rs1638531827
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.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.4501C>G (p.Leu1501Val)
NM_001365951.3(KIF1B):c.4548G>T (p.Glu1516Asp)
NM_001365951.3(KIF1B):c.4574_4575delinsAT (p.Ser1525Tyr) rs1638543931
NM_001365951.3(KIF1B):c.4586C>G (p.Ser1529Trp)
NM_001365951.3(KIF1B):c.4586C>T (p.Ser1529Leu) rs781051649
NM_001365951.3(KIF1B):c.4615C>T (p.Leu1539Phe)
NM_001365951.3(KIF1B):c.4627A>G (p.Thr1543Ala) rs1638546150
NM_001365951.3(KIF1B):c.4644G>T (p.Gln1548His) rs199611419
NM_001365951.3(KIF1B):c.4651A>G (p.Thr1551Ala)
NM_001365951.3(KIF1B):c.4657A>C (p.Thr1553Pro)
NM_001365951.3(KIF1B):c.4700A>T (p.Asp1567Val)
NM_001365951.3(KIF1B):c.4714G>A (p.Glu1572Lys)
NM_001365951.3(KIF1B):c.4723G>A (p.Val1575Met) rs756027011
NM_001365951.3(KIF1B):c.4751A>C (p.Lys1584Thr)
NM_001365951.3(KIF1B):c.4753-3T>C
NM_001365951.3(KIF1B):c.4761A>G (p.Gln1587=) rs960083901
NM_001365951.3(KIF1B):c.4779C>A (p.Phe1593Leu)
NM_001365951.3(KIF1B):c.4793G>C (p.Ser1598Thr)
NM_001365951.3(KIF1B):c.4804G>T (p.Gly1602Cys)
NM_001365951.3(KIF1B):c.4808G>A (p.Ser1603Asn)
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+3G>A rs1638638432
NM_001365951.3(KIF1B):c.4825-13G>A
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.488A>G (p.Lys163Arg)
NM_001365951.3(KIF1B):c.4895C>T (p.Ser1632Phe)
NM_001365951.3(KIF1B):c.4900A>G (p.Thr1634Ala)
NM_001365951.3(KIF1B):c.4904G>T (p.Cys1635Phe) rs142714491
NM_001365951.3(KIF1B):c.4928G>T (p.Ser1643Ile) rs2102358222
NM_001365951.3(KIF1B):c.4931A>G (p.Asn1644Ser)
NM_001365951.3(KIF1B):c.4939G>A (p.Asp1647Asn) rs2102358247
NM_001365951.3(KIF1B):c.4952C>G (p.Pro1651Arg)
NM_001365951.3(KIF1B):c.4988A>C (p.Glu1663Ala) rs1638827878
NM_001365951.3(KIF1B):c.4999T>C (p.Phe1667Leu)
NM_001365951.3(KIF1B):c.49T>C (p.Ser17Pro)
NM_001365951.3(KIF1B):c.500G>A (p.Arg167His) rs2102205265
NM_001365951.3(KIF1B):c.5024C>T (p.Thr1675Ile)
NM_001365951.3(KIF1B):c.5079T>G (p.Ile1693Met) rs752044197
NM_001365951.3(KIF1B):c.5080G>A (p.Glu1694Lys)
NM_001365951.3(KIF1B):c.5092C>G (p.Pro1698Ala)
NM_001365951.3(KIF1B):c.5095A>G (p.Ser1699Gly)
NM_001365951.3(KIF1B):c.5099C>T (p.Ser1700Leu)
NM_001365951.3(KIF1B):c.5118A>G (p.Gly1706=)
NM_001365951.3(KIF1B):c.5137C>G (p.Pro1713Ala) rs755893509
NM_001365951.3(KIF1B):c.514C>A (p.Pro172Thr)
NM_001365951.3(KIF1B):c.5156C>T (p.Ala1719Val) rs2102363299
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.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.5236A>C (p.Asn1746His) rs556099463
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.5286G>A (p.Val1762=)
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.5303T>G (p.Phe1768Cys)
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.5386C>A (p.Pro1796Thr)
NM_001365951.3(KIF1B):c.5398G>A (p.Gly1800Ser)
NM_001365951.3(KIF1B):c.5408+6A>C
NM_001365951.3(KIF1B):c.5408G>A (p.Arg1803Gln)
NM_001365951.3(KIF1B):c.5431C>A (p.Pro1811Thr)
NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu) rs761319935
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.586A>G (p.Met196Val) rs2102205493
NM_001365951.3(KIF1B):c.608+3A>G
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.691G>T (p.Asp231Tyr) rs760067826
NM_001365951.3(KIF1B):c.692A>G (p.Asp231Gly)
NM_001365951.3(KIF1B):c.704A>G (p.Asn235Ser)
NM_001365951.3(KIF1B):c.715G>A (p.Glu239Lys)
NM_001365951.3(KIF1B):c.730A>G (p.Ile244Val)
NM_001365951.3(KIF1B):c.731T>C (p.Ile244Thr) rs2102213204
NM_001365951.3(KIF1B):c.776G>A (p.Gly259Asp) rs767229413
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=) rs1648800243
NM_001365951.3(KIF1B):c.79A>G (p.Ile27Val)
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.861G>C (p.Glu287Asp)
NM_001365951.3(KIF1B):c.87G>C (p.Gln29His) rs2102129325
NM_001365951.3(KIF1B):c.887A>G (p.Lys296Arg)
NM_001365951.3(KIF1B):c.891GAA[2] (p.Lys300del) rs1180929845
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.965A>G (p.Asn322Ser) rs2102222233
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_001376.5(DYNC1H1):c.10041C>A (p.Phe3347Leu)
NM_001376.5(DYNC1H1):c.10054G>A (p.Val3352Ile)
NM_001376.5(DYNC1H1):c.10085C>T (p.Ala3362Val) rs2152591666
NM_001376.5(DYNC1H1):c.10096A>G (p.Lys3366Glu)
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg) rs1356616117
NM_001376.5(DYNC1H1):c.10134_10135inv (p.Asn3378_Tyr3379delinsLysAsn)
NM_001376.5(DYNC1H1):c.10136A>T (p.Tyr3379Phe)
NM_001376.5(DYNC1H1):c.10150C>A (p.Arg3384=)
NM_001376.5(DYNC1H1):c.10174A>G (p.Met3392Val) rs2152591694
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=) rs867202471
NM_001376.5(DYNC1H1):c.10198-15A>G
NM_001376.5(DYNC1H1):c.10198-3C>A
NM_001376.5(DYNC1H1):c.10198C>T (p.Leu3400Phe)
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val) rs2048531389
NM_001376.5(DYNC1H1):c.10216T>G (p.Leu3406Val)
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
NM_001376.5(DYNC1H1):c.10294G>A (p.Glu3432Lys) rs2152591792
NM_001376.5(DYNC1H1):c.10312C>T (p.Arg3438Ter)
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn) rs766521055
NM_001376.5(DYNC1H1):c.10346A>G (p.Glu3449Gly)
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.10381A>G (p.Ile3461Val)
NM_001376.5(DYNC1H1):c.10385A>G (p.Lys3462Arg)
NM_001376.5(DYNC1H1):c.10413+3A>G rs2048533401
NM_001376.5(DYNC1H1):c.10414-14G>A rs2152592099
NM_001376.5(DYNC1H1):c.10414G>A (p.Val3472Ile)
NM_001376.5(DYNC1H1):c.10414G>T (p.Val3472Leu)
NM_001376.5(DYNC1H1):c.10421G>A (p.Arg3474Gln) rs2152592111
NM_001376.5(DYNC1H1):c.10488C>A (p.Phe3496Leu)
NM_001376.5(DYNC1H1):c.10488C>G (p.Phe3496Leu) rs2152592159
NM_001376.5(DYNC1H1):c.10526T>C (p.Leu3509Ser)
NM_001376.5(DYNC1H1):c.10535C>G (p.Ala3512Gly)
NM_001376.5(DYNC1H1):c.10547A>G (p.Tyr3516Cys)
NM_001376.5(DYNC1H1):c.10549G>A (p.Ala3517Thr) rs2152592178
NM_001376.5(DYNC1H1):c.10558T>C (p.Phe3520Leu)
NM_001376.5(DYNC1H1):c.10564C>T (p.Gln3522Ter) rs2152592188
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg) rs2048543572
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10649C>T (p.Thr3550Met)
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10676G>A (p.Arg3559His)
NM_001376.5(DYNC1H1):c.10694G>C (p.Ser3565Thr)
NM_001376.5(DYNC1H1):c.10695C>G (p.Ser3565Arg)
NM_001376.5(DYNC1H1):c.10726A>G (p.Asn3576Asp)
NM_001376.5(DYNC1H1):c.10735A>G (p.Met3579Val) rs2152592339
NM_001376.5(DYNC1H1):c.10736T>C (p.Met3579Thr)
NM_001376.5(DYNC1H1):c.10745G>A (p.Arg3582Gln) rs866994746
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+3A>G rs2152592348
NM_001376.5(DYNC1H1):c.10760C>T (p.Pro3587Leu)
NM_001376.5(DYNC1H1):c.10768A>C (p.Ile3590Leu) rs2152593630
NM_001376.5(DYNC1H1):c.10786G>A (p.Ala3596Thr)
NM_001376.5(DYNC1H1):c.10802T>C (p.Met3601Thr)
NM_001376.5(DYNC1H1):c.10805A>G (p.Asn3602Ser)
NM_001376.5(DYNC1H1):c.10813A>G (p.Lys3605Glu)
NM_001376.5(DYNC1H1):c.10819C>T (p.Arg3607Cys) rs773374068
NM_001376.5(DYNC1H1):c.10820G>A (p.Arg3607His) rs1321841274
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr) rs2048577600
NM_001376.5(DYNC1H1):c.10832G>C (p.Arg3611Pro)
NM_001376.5(DYNC1H1):c.10843C>G (p.Leu3615Val)
NM_001376.5(DYNC1H1):c.10850A>G (p.Asp3617Gly) rs2152593675
NM_001376.5(DYNC1H1):c.10852G>A (p.Ala3618Thr)
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu) rs141133453
NM_001376.5(DYNC1H1):c.10888G>A (p.Gly3630Ser) rs2048578300
NM_001376.5(DYNC1H1):c.1088A>G (p.His363Arg)
NM_001376.5(DYNC1H1):c.10912G>A (p.Val3638Met)
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala) rs2152594696
NM_001376.5(DYNC1H1):c.10940C>T (p.Pro3647Leu) rs2152594699
NM_001376.5(DYNC1H1):c.10957G>A (p.Val3653Met) rs2152594710
NM_001376.5(DYNC1H1):c.10958T>C (p.Val3653Ala) rs2152594711
NM_001376.5(DYNC1H1):c.10968_10969del (p.Gly3658fs)
NM_001376.5(DYNC1H1):c.10972_10974dup (p.Gly3658_Arg3659insGly)
NM_001376.5(DYNC1H1):c.10988C>T (p.Thr3663Ile) rs2152594727
NM_001376.5(DYNC1H1):c.10993G>A (p.Gly3665Arg) rs2152594732
NM_001376.5(DYNC1H1):c.11005A>G (p.Ile3669Val)
NM_001376.5(DYNC1H1):c.11006T>C (p.Ile3669Thr) rs2152594739
NM_001376.5(DYNC1H1):c.11014T>C (p.Ser3672Pro) rs2152594742
NM_001376.5(DYNC1H1):c.11014T>G (p.Ser3672Ala)
NM_001376.5(DYNC1H1):c.1102C>T (p.Arg368Ter)
NM_001376.5(DYNC1H1):c.1103G>A (p.Arg368Gln) rs2141272334
NM_001376.5(DYNC1H1):c.11055+6G>A rs1595629239
NM_001376.5(DYNC1H1):c.11152A>G (p.Lys3718Glu)
NM_001376.5(DYNC1H1):c.11206G>A (p.Gly3736Arg) rs2048608382
NM_001376.5(DYNC1H1):c.11207-19G>T rs2048610504
NM_001376.5(DYNC1H1):c.11218C>T (p.Leu3740Phe)
NM_001376.5(DYNC1H1):c.1121T>A (p.Ile374Asn)
NM_001376.5(DYNC1H1):c.11221C>T (p.Arg3741Cys) rs2048610848
NM_001376.5(DYNC1H1):c.11272G>C (p.Gly3758Arg)
NM_001376.5(DYNC1H1):c.11275C>T (p.Arg3759Cys)
NM_001376.5(DYNC1H1):c.11290G>A (p.Asp3764Asn)
NM_001376.5(DYNC1H1):c.11294C>T (p.Thr3765Met)
NM_001376.5(DYNC1H1):c.112G>C (p.Val38Leu) rs2141258546
NM_001376.5(DYNC1H1):c.11305A>C (p.Thr3769Pro) rs2152594953
NM_001376.5(DYNC1H1):c.1130C>G (p.Ala377Gly)
NM_001376.5(DYNC1H1):c.11344A>G (p.Arg3782Gly) rs2152594974
NM_001376.5(DYNC1H1):c.11345G>A (p.Arg3782Lys)
NM_001376.5(DYNC1H1):c.11350G>C (p.Val3784Leu) rs1482714496
NM_001376.5(DYNC1H1):c.11371A>G (p.Met3791Val)
NM_001376.5(DYNC1H1):c.11379G>T (p.Glu3793Asp) rs2152594990
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg) rs571126286
NM_001376.5(DYNC1H1):c.11408C>T (p.Pro3803Leu) rs571126286
NM_001376.5(DYNC1H1):c.11460+1G>T
NM_001376.5(DYNC1H1):c.11474A>G (p.Tyr3825Cys)
NM_001376.5(DYNC1H1):c.11495T>C (p.Phe3832Ser)
NM_001376.5(DYNC1H1):c.11531C>T (p.Pro3844Leu)
NM_001376.5(DYNC1H1):c.11549C>A (p.Thr3850Asn)
NM_001376.5(DYNC1H1):c.11558C>A (p.Thr3853Lys)
NM_001376.5(DYNC1H1):c.11563C>T (p.Arg3855Cys)
NM_001376.5(DYNC1H1):c.11573T>C (p.Ile3858Thr)
NM_001376.5(DYNC1H1):c.11608C>T (p.Arg3870Ter) rs2152595277
NM_001376.5(DYNC1H1):c.11617C>T (p.Arg3873Ter)
NM_001376.5(DYNC1H1):c.11683A>G (p.Thr3895Ala) rs1326124955
NM_001376.5(DYNC1H1):c.11683A>T (p.Thr3895Ser)
NM_001376.5(DYNC1H1):c.11690+3A>T rs1482293429
NM_001376.5(DYNC1H1):c.11690+5G>A rs1336913296
NM_001376.5(DYNC1H1):c.11698A>G (p.Thr3900Ala) rs2048630829
NM_001376.5(DYNC1H1):c.11717A>G (p.Gln3906Arg)
NM_001376.5(DYNC1H1):c.11735A>G (p.Asn3912Ser)
NM_001376.5(DYNC1H1):c.11743G>A (p.Val3915Ile)
NM_001376.5(DYNC1H1):c.11749A>T (p.Ser3917Cys)
NM_001376.5(DYNC1H1):c.11752G>A (p.Ala3918Thr) rs2048631708
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg) rs141696238
NM_001376.5(DYNC1H1):c.11771T>A (p.Ile3924Asn)
NM_001376.5(DYNC1H1):c.11773C>G (p.Gln3925Glu) rs771773704
NM_001376.5(DYNC1H1):c.11791C>A (p.Gln3931Lys)
NM_001376.5(DYNC1H1):c.11801C>A (p.Ala3934Glu) rs751780173
NM_001376.5(DYNC1H1):c.11802G>T (p.Ala3934=)
NM_001376.5(DYNC1H1):c.11804T>C (p.Val3935Ala)
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.11828C>T (p.Ala3943Val)
NM_001376.5(DYNC1H1):c.11836G>A (p.Asp3946Asn) rs2152595704
NM_001376.5(DYNC1H1):c.11851G>A (p.Val3951Ile)
NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe) rs2152595709
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg) rs1595630600
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr) rs2048633996
NM_001376.5(DYNC1H1):c.11865+7_11865+9dup
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser) rs2048637475
NM_001376.5(DYNC1H1):c.11890A>C (p.Ser3964Arg)
NM_001376.5(DYNC1H1):c.11893T>G (p.Ser3965Ala)
NM_001376.5(DYNC1H1):c.11917C>T (p.Leu3973Phe)
NM_001376.5(DYNC1H1):c.1192A>G (p.Thr398Ala) rs1314946037
NM_001376.5(DYNC1H1):c.11936C>G (p.Pro3979Arg)
NM_001376.5(DYNC1H1):c.11940A>G (p.Ala3980=)
NM_001376.5(DYNC1H1):c.11941+2T>A rs1595630836
NM_001376.5(DYNC1H1):c.11941+2T>G
NM_001376.5(DYNC1H1):c.11941+6C>T rs2048638511
NM_001376.5(DYNC1H1):c.11942-3C>T rs2152596249
NM_001376.5(DYNC1H1):c.11950G>C (p.Gly3984Arg)
NM_001376.5(DYNC1H1):c.11956G>A (p.Ala3986Thr)
NM_001376.5(DYNC1H1):c.11966G>T (p.Arg3989Leu)
NM_001376.5(DYNC1H1):c.11974C>G (p.Leu3992Val)
NM_001376.5(DYNC1H1):c.11990G>A (p.Arg3997Gln)
NM_001376.5(DYNC1H1):c.11C>T (p.Pro4Leu)
NM_001376.5(DYNC1H1):c.12007G>A (p.Ala4003Thr) rs2152596279
NM_001376.5(DYNC1H1):c.12019A>C (p.Met4007Leu)
NM_001376.5(DYNC1H1):c.12024del (p.Phe4008fs)
NM_001376.5(DYNC1H1):c.12025G>A (p.Val4009Ile) rs2152596295
NM_001376.5(DYNC1H1):c.12028T>C (p.Ser4010Pro)
NM_001376.5(DYNC1H1):c.12029C>T (p.Ser4010Leu)
NM_001376.5(DYNC1H1):c.12038T>A (p.Leu4013His) rs2152596304
NM_001376.5(DYNC1H1):c.12053T>C (p.Met4018Thr) rs2048651644
NM_001376.5(DYNC1H1):c.12058A>T (p.Ile4020Phe) rs2152596319
NM_001376.5(DYNC1H1):c.12067C>T (p.Gln4023Ter)
NM_001376.5(DYNC1H1):c.1206G>C (p.Met402Ile)
NM_001376.5(DYNC1H1):c.12070C>G (p.Pro4024Ala)
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg) rs1451197374
NM_001376.5(DYNC1H1):c.12102+4A>G rs559197482
NM_001376.5(DYNC1H1):c.12103G>T (p.Val4035Leu)
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe) rs1595631704
NM_001376.5(DYNC1H1):c.1213G>A (p.Ala405Thr)
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe) rs2048657881
NM_001376.5(DYNC1H1):c.12161A>G (p.His4054Arg)
NM_001376.5(DYNC1H1):c.12181G>A (p.Glu4061Lys) rs797045530
NM_001376.5(DYNC1H1):c.12223G>A (p.Glu4075Lys)
NM_001376.5(DYNC1H1):c.12232A>C (p.Asn4078His) rs2152596574
NM_001376.5(DYNC1H1):c.12241G>C (p.Asp4081His)
NM_001376.5(DYNC1H1):c.12247G>T (p.Ala4083Ser)
NM_001376.5(DYNC1H1):c.12257C>T (p.Thr4086Ile)
NM_001376.5(DYNC1H1):c.12268T>G (p.Ser4090Ala)
NM_001376.5(DYNC1H1):c.12269C>T (p.Ser4090Leu)
NM_001376.5(DYNC1H1):c.12275+6C>T rs2152596589
NM_001376.5(DYNC1H1):c.12276-3C>T
NM_001376.5(DYNC1H1):c.12293A>G (p.Asn4098Ser) rs2152596637
NM_001376.5(DYNC1H1):c.12317T>A (p.Leu4106Gln) rs2152596641
NM_001376.5(DYNC1H1):c.12322C>G (p.Gln4108Glu) rs2152596646
NM_001376.5(DYNC1H1):c.12331AAG[1] (p.Lys4112del)
NM_001376.5(DYNC1H1):c.12332A>C (p.Lys4111Thr)
NM_001376.5(DYNC1H1):c.12340C>T (p.His4114Tyr)
NM_001376.5(DYNC1H1):c.12341A>G (p.His4114Arg)
NM_001376.5(DYNC1H1):c.12353C>T (p.Pro4118Leu)
NM_001376.5(DYNC1H1):c.1237A>T (p.Met413Leu)
NM_001376.5(DYNC1H1):c.12431T>A (p.Ile4144Asn)
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu) rs146075696
NM_001376.5(DYNC1H1):c.12442G>A (p.Glu4148Lys)
NM_001376.5(DYNC1H1):c.12449C>T (p.Pro4150Leu)
NM_001376.5(DYNC1H1):c.12457G>T (p.Val4153Leu) rs2048667081
NM_001376.5(DYNC1H1):c.12507A>G (p.Ile4169Met)
NM_001376.5(DYNC1H1):c.12509G>A (p.Cys4170Tyr)
NM_001376.5(DYNC1H1):c.12513+2T>C rs2152596793
NM_001376.5(DYNC1H1):c.12513+3A>T
NM_001376.5(DYNC1H1):c.12513G>A (p.Lys4171=)
NM_001376.5(DYNC1H1):c.12514-19T>G
NM_001376.5(DYNC1H1):c.12514-2_12518del rs2152597446
NM_001376.5(DYNC1H1):c.12527G>A (p.Arg4176His)
NM_001376.5(DYNC1H1):c.12533G>A (p.Arg4178His) rs2152597456
NM_001376.5(DYNC1H1):c.12563C>T (p.Ala4188Val)
NM_001376.5(DYNC1H1):c.12583C>T (p.Arg4195Ter) rs2152597488
NM_001376.5(DYNC1H1):c.12590C>T (p.Ala4197Val) rs2048683611
NM_001376.5(DYNC1H1):c.12597G>A (p.Leu4199=)
NM_001376.5(DYNC1H1):c.12607AAG[1] (p.Lys4204del) rs2152597501
NM_001376.5(DYNC1H1):c.12618A>C (p.Glu4206Asp)
NM_001376.5(DYNC1H1):c.12655G>A (p.Val4219Met)
NM_001376.5(DYNC1H1):c.12677C>T (p.Thr4226Met) rs776972173
NM_001376.5(DYNC1H1):c.12679G>A (p.Ala4227Thr)
NM_001376.5(DYNC1H1):c.12682A>C (p.Lys4228Gln)
NM_001376.5(DYNC1H1):c.12684+2C>T rs2152597551
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup rs769593920
NM_001376.5(DYNC1H1):c.12684+6T>C
NM_001376.5(DYNC1H1):c.12721T>C (p.Ser4241Pro)
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys) rs1595633349
NM_001376.5(DYNC1H1):c.12751A>G (p.Ile4251Val) rs1467036408
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter) rs2048688862
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
NM_001376.5(DYNC1H1):c.12775G>A (p.Glu4259Lys)
NM_001376.5(DYNC1H1):c.12797A>C (p.Asn4266Thr) rs760229878
NM_001376.5(DYNC1H1):c.12800C>T (p.Thr4267Ile)
NM_001376.5(DYNC1H1):c.12812G>T (p.Arg4271Leu)
NM_001376.5(DYNC1H1):c.12854C>T (p.Ala4285Val)
NM_001376.5(DYNC1H1):c.12878A>C (p.Asp4293Ala)
NM_001376.5(DYNC1H1):c.12902+4T>C
NM_001376.5(DYNC1H1):c.12903G>A (p.Arg4301=)
NM_001376.5(DYNC1H1):c.12908A>G (p.Glu4303Gly)
NM_001376.5(DYNC1H1):c.12928G>A (p.Glu4310Lys)
NM_001376.5(DYNC1H1):c.12942C>A (p.Asp4314Glu)
NM_001376.5(DYNC1H1):c.12982G>A (p.Glu4328Lys)
NM_001376.5(DYNC1H1):c.12987_12988del (p.Arg4329fs) rs929395563
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg) rs2048693948
NM_001376.5(DYNC1H1):c.13001C>T (p.Thr4334Ile)
NM_001376.5(DYNC1H1):c.13006+4G>A rs1595633618
NM_001376.5(DYNC1H1):c.13006+6C>G
NM_001376.5(DYNC1H1):c.13006G>A (p.Gly4336Ser)
NM_001376.5(DYNC1H1):c.13012G>A (p.Asp4338Asn)
NM_001376.5(DYNC1H1):c.13030C>A (p.Leu4344Met) rs2152600128
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly) rs1253900818
NM_001376.5(DYNC1H1):c.13082AGA[2] (p.Lys4363del)
NM_001376.5(DYNC1H1):c.13085A>G (p.Lys4362Arg) rs2152600168
NM_001376.5(DYNC1H1):c.13091C>G (p.Thr4364Arg)
NM_001376.5(DYNC1H1):c.13091_13093del (p.Thr4364del)
NM_001376.5(DYNC1H1):c.13091_13093dup (p.Thr4364_Arg4365insThr)
NM_001376.5(DYNC1H1):c.13100A>C (p.Asp4367Ala)
NM_001376.5(DYNC1H1):c.13123G>A (p.Ala4375Thr) rs1472613465
NM_001376.5(DYNC1H1):c.13133G>A (p.Arg4378Gln)
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13168C>G (p.Leu4390Val) rs2048750450
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13189C>T (p.His4397Tyr) rs2152600243
NM_001376.5(DYNC1H1):c.13198C>T (p.Arg4400Cys) rs1455844874
NM_001376.5(DYNC1H1):c.13199G>A (p.Arg4400His) rs879254217
NM_001376.5(DYNC1H1):c.13202C>A (p.Thr4401Asn)
NM_001376.5(DYNC1H1):c.13207G>C (p.Glu4403Gln)
NM_001376.5(DYNC1H1):c.13216A>C (p.Lys4406Gln) rs2048750992
NM_001376.5(DYNC1H1):c.13218+4G>C
NM_001376.5(DYNC1H1):c.13218+5C>T
NM_001376.5(DYNC1H1):c.13224T>G (p.Pro4408=)
NM_001376.5(DYNC1H1):c.13227G>T (p.Leu4409Phe)
NM_001376.5(DYNC1H1):c.13256T>C (p.Met4419Thr)
NM_001376.5(DYNC1H1):c.13266G>C (p.Lys4422Asn) rs1291353621
NM_001376.5(DYNC1H1):c.13274A>G (p.Gln4425Arg)
NM_001376.5(DYNC1H1):c.13285C>G (p.Gln4429Glu)
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly) rs2048759187
NM_001376.5(DYNC1H1):c.13304T>C (p.Val4435Ala) rs1469263725
NM_001376.5(DYNC1H1):c.13309G>C (p.Val4437Leu)
NM_001376.5(DYNC1H1):c.13321AAG[2] (p.Lys4443del)
NM_001376.5(DYNC1H1):c.13345C>T (p.Arg4449Cys) rs2048759812
NM_001376.5(DYNC1H1):c.13360G>A (p.Glu4454Lys) rs1064797194
NM_001376.5(DYNC1H1):c.13362G>C (p.Glu4454Asp)
NM_001376.5(DYNC1H1):c.13372+5G>A
NM_001376.5(DYNC1H1):c.13372+6T>G
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13377C>G (p.Ile4459Met)
NM_001376.5(DYNC1H1):c.13384C>T (p.Arg4462Trp) rs879253914
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13452G>C (p.Glu4484Asp) rs2048774638
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu) rs2048775017
NM_001376.5(DYNC1H1):c.13474A>G (p.Ile4492Val) rs2048775017
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr) rs1567026040
NM_001376.5(DYNC1H1):c.13493C>T (p.Ser4498Phe)
NM_001376.5(DYNC1H1):c.13495G>A (p.Gly4499Ser) rs2048775221
NM_001376.5(DYNC1H1):c.13495G>C (p.Gly4499Arg)
NM_001376.5(DYNC1H1):c.13508_13515+7dup
NM_001376.5(DYNC1H1):c.13515+2T>C rs2152601082
NM_001376.5(DYNC1H1):c.13515+3G>A rs2048775565
NM_001376.5(DYNC1H1):c.13516-10C>A rs1595637656
NM_001376.5(DYNC1H1):c.13516-13C>G rs2152601181
NM_001376.5(DYNC1H1):c.13516-2A>G
NM_001376.5(DYNC1H1):c.13518del (p.Asn4506fs)
NM_001376.5(DYNC1H1):c.13523A>G (p.His4508Arg)
NM_001376.5(DYNC1H1):c.13525G>A (p.Val4509Met)
NM_001376.5(DYNC1H1):c.1358A>G (p.Asn453Ser)
NM_001376.5(DYNC1H1):c.13590G>C (p.Gln4530His)
NM_001376.5(DYNC1H1):c.1359C>A (p.Asn453Lys) rs2141272545
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) rs2048779548
NM_001376.5(DYNC1H1):c.13625A>G (p.Glu4542Gly)
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile) rs2048780089
NM_001376.5(DYNC1H1):c.13649G>A (p.Gly4550Asp) rs2152601253
NM_001376.5(DYNC1H1):c.13657C>T (p.Leu4553Phe) rs997929938
NM_001376.5(DYNC1H1):c.13665_13668del (p.Cys4556fs)
NM_001376.5(DYNC1H1):c.13670G>C (p.Ser4557Thr) rs2152601267
NM_001376.5(DYNC1H1):c.13684G>A (p.Gly4562Ser)
NM_001376.5(DYNC1H1):c.136G>A (p.Gly46Ser)
NM_001376.5(DYNC1H1):c.13709G>A (p.Cys4570Tyr)
NM_001376.5(DYNC1H1):c.13710CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13712A>G (p.Asn4571Ser)
NM_001376.5(DYNC1H1):c.13714A>C (p.Asn4572His)
NM_001376.5(DYNC1H1):c.13715A>G (p.Asn4572Ser) rs2152601484
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro) rs1567026417
NM_001376.5(DYNC1H1):c.13730T>G (p.Leu4577Arg)
NM_001376.5(DYNC1H1):c.13735A>G (p.Asn4579Asp)
NM_001376.5(DYNC1H1):c.13736A>G (p.Asn4579Ser)
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr) rs2048787027
NM_001376.5(DYNC1H1):c.13747A>G (p.Thr4583Ala)
NM_001376.5(DYNC1H1):c.13751C>T (p.Ala4584Val)
NM_001376.5(DYNC1H1):c.13753C>T (p.Leu4585Phe)
NM_001376.5(DYNC1H1):c.13765C>G (p.Gln4589Glu) rs2152601525
NM_001376.5(DYNC1H1):c.13766A>G (p.Gln4589Arg)
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg) rs2048787955
NM_001376.5(DYNC1H1):c.13787C>G (p.Thr4596Arg)
NM_001376.5(DYNC1H1):c.13796A>C (p.Glu4599Ala) rs2152601545
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala) rs2048788225
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn) rs2048788302
NM_001376.5(DYNC1H1):c.13805C>A (p.Ala4602Asp)
NM_001376.5(DYNC1H1):c.13817C>T (p.Thr4606Ile)
NM_001376.5(DYNC1H1):c.13836C>T (p.Asn4612=)
NM_001376.5(DYNC1H1):c.1384C>T (p.Arg462Cys)
NM_001376.5(DYNC1H1):c.1385G>A (p.Arg462His) rs202204063
NM_001376.5(DYNC1H1):c.13874A>C (p.Glu4625Ala)
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala) rs2048794686
NM_001376.5(DYNC1H1):c.13885A>G (p.Lys4629Glu)
NM_001376.5(DYNC1H1):c.13887GGA[1] (p.Glu4630del) rs2152601717
NM_001376.5(DYNC1H1):c.13895C>T (p.Pro4632Leu)
NM_001376.5(DYNC1H1):c.13906T>C (p.Tyr4636His)
NM_001376.5(DYNC1H1):c.1390G>C (p.Asp464His)
NM_001376.5(DYNC1H1):c.13925T>C (p.Val4642Ala)
NM_001376.5(DYNC1H1):c.13939T>G (p.Ter4647Glu)
NM_001376.5(DYNC1H1):c.1395G>C (p.Gln465His) rs747183743
NM_001376.5(DYNC1H1):c.1407T>G (p.Phe469Leu)
NM_001376.5(DYNC1H1):c.1415A>T (p.Gln472Leu)
NM_001376.5(DYNC1H1):c.1417C>T (p.His473Tyr)
NM_001376.5(DYNC1H1):c.1441G>A (p.Val481Ile) rs770305875
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1460A>C (p.Gln487Pro) rs2141272621
NM_001376.5(DYNC1H1):c.1461+5G>A rs2047892846
NM_001376.5(DYNC1H1):c.1461+5G>T rs2047892846
NM_001376.5(DYNC1H1):c.1462G>A (p.Val488Ile)
NM_001376.5(DYNC1H1):c.1474G>A (p.Ala492Thr) rs75648834
NM_001376.5(DYNC1H1):c.1493_1494insCTC (p.Glu498delinsAspSer)
NM_001376.5(DYNC1H1):c.1496T>A (p.Val499Asp)
NM_001376.5(DYNC1H1):c.1499C>T (p.Pro500Leu)
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.151G>T (p.Ala51Ser)
NM_001376.5(DYNC1H1):c.152C>T (p.Ala51Val)
NM_001376.5(DYNC1H1):c.1547A>T (p.Asp516Val)
NM_001376.5(DYNC1H1):c.1550C>G (p.Ala517Gly)
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys) rs1595600778
NM_001376.5(DYNC1H1):c.157G>A (p.Glu53Lys)
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile) rs1302970492
NM_001376.5(DYNC1H1):c.1610A>G (p.Asp537Gly)
NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])
NM_001376.5(DYNC1H1):c.1633G>A (p.Ala545Thr) rs2047930968
NM_001376.5(DYNC1H1):c.1688G>A (p.Arg563Gln)
NM_001376.5(DYNC1H1):c.1697C>G (p.Ala566Gly)
NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys)
NM_001376.5(DYNC1H1):c.169GAG[1] (p.Glu58del) rs2141258625
NM_001376.5(DYNC1H1):c.1705C>T (p.Arg569Trp)
NM_001376.5(DYNC1H1):c.1709A>T (p.Asp570Val) rs2141274653
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly) rs2047646207
NM_001376.5(DYNC1H1):c.1730A>T (p.Asn577Ile)
NM_001376.5(DYNC1H1):c.1754T>C (p.Phe585Ser) rs2141274680
NM_001376.5(DYNC1H1):c.1756T>C (p.Ser586Pro)
NM_001376.5(DYNC1H1):c.17G>C (p.Gly6Ala) rs2047642596
NM_001376.5(DYNC1H1):c.17_18insTGG (p.Gly9_Glu10insGly)
NM_001376.5(DYNC1H1):c.1804C>T (p.Arg602Cys)
NM_001376.5(DYNC1H1):c.1817C>T (p.Thr606Ile) rs1566999079
NM_001376.5(DYNC1H1):c.1826T>G (p.Ile609Ser) rs2047933165
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1832G>A (p.Arg611His) rs907022997
NM_001376.5(DYNC1H1):c.1847T>C (p.Ile616Thr) rs1002760127
NM_001376.5(DYNC1H1):c.184C>G (p.Leu62Val)
NM_001376.5(DYNC1H1):c.1852T>C (p.Ser618Pro) rs2141274736
NM_001376.5(DYNC1H1):c.1873G>A (p.Val625Ile)
NM_001376.5(DYNC1H1):c.1930G>T (p.Val644Leu)
NM_001376.5(DYNC1H1):c.1963G>A (p.Asp655Asn)
NM_001376.5(DYNC1H1):c.1990C>T (p.Arg664Trp) rs2141274831
NM_001376.5(DYNC1H1):c.1991G>A (p.Arg664Gln) rs2047934872
NM_001376.5(DYNC1H1):c.1996G>A (p.Glu666Lys) rs2141274838
NM_001376.5(DYNC1H1):c.1999G>A (p.Asp667Asn)
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile) rs1406149790
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) rs387906742
NM_001376.5(DYNC1H1):c.2032G>A (p.Glu678Lys)
NM_001376.5(DYNC1H1):c.2069G>A (p.Arg690His)
NM_001376.5(DYNC1H1):c.2071A>G (p.Met691Val)
NM_001376.5(DYNC1H1):c.2080A>C (p.Asn694His) rs2141274886
NM_001376.5(DYNC1H1):c.2083A>G (p.Thr695Ala) rs2141274888
NM_001376.5(DYNC1H1):c.2102A>C (p.Asp701Ala)
NM_001376.5(DYNC1H1):c.210G>A (p.Ser70=) rs2141258672
NM_001376.5(DYNC1H1):c.2121G>T (p.Gln707His)
NM_001376.5(DYNC1H1):c.2146C>T (p.Arg716Cys)
NM_001376.5(DYNC1H1):c.2149A>G (p.Ile717Val)
NM_001376.5(DYNC1H1):c.2150T>G (p.Ile717Ser) rs2141274940
NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys) rs2141274951
NM_001376.5(DYNC1H1):c.2176C>T (p.Arg726Trp)
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter) rs1595601098
NM_001376.5(DYNC1H1):c.2186C>T (p.Thr729Ile)
NM_001376.5(DYNC1H1):c.2194G>A (p.Val732Met)
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro) rs1002689170
NM_001376.5(DYNC1H1):c.221T>C (p.Val74Ala)
NM_001376.5(DYNC1H1):c.2243A>G (p.Lys748Arg)
NM_001376.5(DYNC1H1):c.2244A>G (p.Lys748=) rs2141274997
NM_001376.5(DYNC1H1):c.2266C>T (p.Leu756Phe)
NM_001376.5(DYNC1H1):c.2267T>A (p.Leu756His)
NM_001376.5(DYNC1H1):c.2275C>T (p.Arg759Cys) rs1303476982
NM_001376.5(DYNC1H1):c.2278G>T (p.Val760Phe)
NM_001376.5(DYNC1H1):c.2284C>A (p.Leu762Met)
NM_001376.5(DYNC1H1):c.2349G>C (p.Glu783Asp)
NM_001376.5(DYNC1H1):c.2353G>T (p.Val785Phe) rs766014166
NM_001376.5(DYNC1H1):c.2363A>G (p.Tyr788Cys)
NM_001376.5(DYNC1H1):c.2366A>T (p.Glu789Val)
NM_001376.5(DYNC1H1):c.2368C>T (p.Arg790Trp)
NM_001376.5(DYNC1H1):c.2392C>T (p.Arg798Trp) rs749479158
NM_001376.5(DYNC1H1):c.2408T>A (p.Leu803His)
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe) rs2047940382
NM_001376.5(DYNC1H1):c.2483A>G (p.Lys828Arg)
NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met) rs1400787976
NM_001376.5(DYNC1H1):c.2532A>G (p.Gln844=) rs1174175150
NM_001376.5(DYNC1H1):c.2538+5G>A
NM_001376.5(DYNC1H1):c.2539-6C>A rs535465221
NM_001376.5(DYNC1H1):c.2539-6_2539-3del rs2141275733
NM_001376.5(DYNC1H1):c.2539G>A (p.Val847Met)
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.2564A>G (p.Glu855Gly) rs2047949907
NM_001376.5(DYNC1H1):c.257-6T>A rs2141266656
NM_001376.5(DYNC1H1):c.2588C>A (p.Ser863Tyr) rs2047950008
NM_001376.5(DYNC1H1):c.2588C>T (p.Ser863Phe)
NM_001376.5(DYNC1H1):c.2624C>G (p.Ser875Trp) rs184868637
NM_001376.5(DYNC1H1):c.262G>A (p.Val88Ile)
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys) rs2141275840
NM_001376.5(DYNC1H1):c.2684A>G (p.Asn895Ser)
NM_001376.5(DYNC1H1):c.269A>T (p.Asp90Val) rs2141266676
NM_001376.5(DYNC1H1):c.26G>A (p.Gly9Asp)
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val) rs2047951002
NM_001376.5(DYNC1H1):c.2715_2718+2del
NM_001376.5(DYNC1H1):c.2718+6G>A
NM_001376.5(DYNC1H1):c.2721T>G (p.Ile907Met) rs114021657
NM_001376.5(DYNC1H1):c.2737G>T (p.Val913Phe) rs372740994
NM_001376.5(DYNC1H1):c.2750C>G (p.Ala917Gly)
NM_001376.5(DYNC1H1):c.2766G>C (p.Trp922Cys) rs2141276645
NM_001376.5(DYNC1H1):c.2773G>A (p.Val925Ile) rs753727576
NM_001376.5(DYNC1H1):c.277GAA[2] (p.Glu95del) rs913021962
NM_001376.5(DYNC1H1):c.2794G>A (p.Asp932Asn)
NM_001376.5(DYNC1H1):c.2813T>C (p.Met938Thr)
NM_001376.5(DYNC1H1):c.2813T>G (p.Met938Arg) rs2047964248
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs) rs1595602265
NM_001376.5(DYNC1H1):c.2828C>T (p.Pro943Leu)
NM_001376.5(DYNC1H1):c.2833G>A (p.Val945Ile) rs2141276701
NM_001376.5(DYNC1H1):c.283G>A (p.Glu95Lys)
NM_001376.5(DYNC1H1):c.2851G>A (p.Gly951Arg) rs2141276704
NM_001376.5(DYNC1H1):c.2860A>G (p.Lys954Glu) rs2141276707
NM_001376.5(DYNC1H1):c.2872G>A (p.Val958Ile)
NM_001376.5(DYNC1H1):c.2878C>A (p.His960Asn)
NM_001376.5(DYNC1H1):c.2906T>G (p.Ile969Ser) rs2141278577
NM_001376.5(DYNC1H1):c.290A>G (p.Glu97Gly)
NM_001376.5(DYNC1H1):c.2912T>A (p.Leu971Ter)
NM_001376.5(DYNC1H1):c.2923A>G (p.Ile975Val) rs939424759
NM_001376.5(DYNC1H1):c.2951A>G (p.Gln984Arg) rs2141278608
NM_001376.5(DYNC1H1):c.2956A>G (p.Met986Val)
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001376.5(DYNC1H1):c.2974G>A (p.Val992Ile)
NM_001376.5(DYNC1H1):c.2986C>G (p.Leu996Val) rs1194361096
NM_001376.5(DYNC1H1):c.2987dup (p.Arg998fs) rs2141278640
NM_001376.5(DYNC1H1):c.2989C>G (p.Pro997Ala)
NM_001376.5(DYNC1H1):c.2995A>T (p.Ile999Phe)
NM_001376.5(DYNC1H1):c.3020G>A (p.Gly1007Asp)
NM_001376.5(DYNC1H1):c.3031G>A (p.Glu1011Lys)
NM_001376.5(DYNC1H1):c.3037A>G (p.Thr1013Ala) rs2141280415
NM_001376.5(DYNC1H1):c.3044A>G (p.Glu1015Gly)
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn) rs2048031484
NM_001376.5(DYNC1H1):c.305A>C (p.Asn102Thr) rs1002004066
NM_001376.5(DYNC1H1):c.3064G>T (p.Ala1022Ser)
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile) rs2048031667
NM_001376.5(DYNC1H1):c.307A>G (p.Ile103Val)
NM_001376.5(DYNC1H1):c.3097C>G (p.Leu1033Val)
NM_001376.5(DYNC1H1):c.3098T>C (p.Leu1033Pro)
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys) rs2048031969
NM_001376.5(DYNC1H1):c.311del (p.Asn104fs)
NM_001376.5(DYNC1H1):c.3121A>C (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3122T>C (p.Met1041Thr)
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp) rs2048032260
NM_001376.5(DYNC1H1):c.312C>G (p.Asn104Lys)
NM_001376.5(DYNC1H1):c.313A>T (p.Ile105Leu) rs778763364
NM_001376.5(DYNC1H1):c.3156+3A>G
NM_001376.5(DYNC1H1):c.3156+6A>G
NM_001376.5(DYNC1H1):c.3157-3C>A
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys)
NM_001376.5(DYNC1H1):c.3193G>A (p.Ala1065Thr) rs2141280767
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp) rs2048038698
NM_001376.5(DYNC1H1):c.3225T>A (p.Asp1075Glu)
NM_001376.5(DYNC1H1):c.323A>G (p.His108Arg)
NM_001376.5(DYNC1H1):c.3241G>C (p.Ala1081Pro)
NM_001376.5(DYNC1H1):c.3250G>A (p.Val1084Ile)
NM_001376.5(DYNC1H1):c.3277T>C (p.Phe1093Leu)
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val) rs2048039336
NM_001376.5(DYNC1H1):c.3313G>T (p.Val1105Leu)
NM_001376.5(DYNC1H1):c.3320T>C (p.Ile1107Thr)
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn) rs2048039792
NM_001376.5(DYNC1H1):c.3371A>G (p.His1124Arg)
NM_001376.5(DYNC1H1):c.3378G>C (p.Glu1126Asp)
NM_001376.5(DYNC1H1):c.3379G>T (p.Val1127Phe) rs2048042790
NM_001376.5(DYNC1H1):c.3400A>T (p.Met1134Leu)
NM_001376.5(DYNC1H1):c.3403C>G (p.Leu1135Val) rs2141280981
NM_001376.5(DYNC1H1):c.3412A>G (p.Asn1138Asp)
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp) rs2048043377
NM_001376.5(DYNC1H1):c.343A>G (p.Ser115Gly) rs2141266719
NM_001376.5(DYNC1H1):c.3479C>T (p.Thr1160Met) rs200290958
NM_001376.5(DYNC1H1):c.3493G>A (p.Asp1165Asn)
NM_001376.5(DYNC1H1):c.3499G>T (p.Val1167Leu)
NM_001376.5(DYNC1H1):c.34G>C (p.Gly12Arg) rs2047643021
NM_001376.5(DYNC1H1):c.3503C>G (p.Thr1168Ser) rs2141281089
NM_001376.5(DYNC1H1):c.3511A>G (p.Thr1171Ala) rs2141281094
NM_001376.5(DYNC1H1):c.3515A>C (p.Tyr1172Ser)
NM_001376.5(DYNC1H1):c.3515A>G (p.Tyr1172Cys) rs775012149
NM_001376.5(DYNC1H1):c.3515A>T (p.Tyr1172Phe)
NM_001376.5(DYNC1H1):c.3521A>G (p.Gln1174Arg)
NM_001376.5(DYNC1H1):c.3560T>C (p.Val1187Ala) rs2141281137
NM_001376.5(DYNC1H1):c.3564+14A>G
NM_001376.5(DYNC1H1):c.3564+6C>G
NM_001376.5(DYNC1H1):c.3571C>A (p.Arg1191Ser) rs774198261
NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His) rs1265590172
NM_001376.5(DYNC1H1):c.3580C>T (p.Gln1194Ter)
NM_001376.5(DYNC1H1):c.3584G>A (p.Arg1195His)
NM_001376.5(DYNC1H1):c.3598C>A (p.Gln1200Lys) rs2141282625
NM_001376.5(DYNC1H1):c.3616C>G (p.Pro1206Ala)
NM_001376.5(DYNC1H1):c.361C>G (p.Arg121Gly) rs2141269354
NM_001376.5(DYNC1H1):c.362G>A (p.Arg121His)
NM_001376.5(DYNC1H1):c.3632T>C (p.Ile1211Thr) rs2048071348
NM_001376.5(DYNC1H1):c.3633T>A (p.Ile1211=) rs2141282643
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3643G>A (p.Glu1215Lys)
NM_001376.5(DYNC1H1):c.3665A>G (p.Asn1222Ser) rs2048071678
NM_001376.5(DYNC1H1):c.3676C>T (p.Arg1226Trp)
NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln) rs2048071941
NM_001376.5(DYNC1H1):c.3689C>G (p.Ser1230Cys) rs2048071968
NM_001376.5(DYNC1H1):c.3730del (p.Val1244fs)
NM_001376.5(DYNC1H1):c.3734A>G (p.Gln1245Arg) rs2141282700
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp) rs1217320477
NM_001376.5(DYNC1H1):c.3748G>A (p.Val1250Met)
NM_001376.5(DYNC1H1):c.3748G>T (p.Val1250Leu) rs369914512
NM_001376.5(DYNC1H1):c.3795G>T (p.Lys1265Asn) rs1555408996
NM_001376.5(DYNC1H1):c.3803C>A (p.Thr1268Lys)
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met) rs751865408
NM_001376.5(DYNC1H1):c.3803_3804+1dup
NM_001376.5(DYNC1H1):c.3809A>C (p.Asn1270Thr) rs1246328675
NM_001376.5(DYNC1H1):c.3846A>G (p.Ile1282Met)
NM_001376.5(DYNC1H1):c.3847T>C (p.Tyr1283His) rs2141285009
NM_001376.5(DYNC1H1):c.386A>C (p.Lys129Thr)
NM_001376.5(DYNC1H1):c.3877G>A (p.Asp1293Asn)
NM_001376.5(DYNC1H1):c.388C>A (p.Pro130Thr)
NM_001376.5(DYNC1H1):c.3908C>T (p.Ala1303Val)
NM_001376.5(DYNC1H1):c.3937A>G (p.Ser1313Gly)
NM_001376.5(DYNC1H1):c.3953G>A (p.Arg1318His)
NM_001376.5(DYNC1H1):c.3959A>C (p.Gln1320Pro)
NM_001376.5(DYNC1H1):c.3960+1G>C
NM_001376.5(DYNC1H1):c.3960+4T>C
NM_001376.5(DYNC1H1):c.3961-3C>T rs113172372
NM_001376.5(DYNC1H1):c.3965C>T (p.Ala1322Val) rs2141285225
NM_001376.5(DYNC1H1):c.3970G>A (p.Glu1324Lys) rs2141285228
NM_001376.5(DYNC1H1):c.4000T>G (p.Ser1334Ala)
NM_001376.5(DYNC1H1):c.4012A>G (p.Lys1338Glu)
NM_001376.5(DYNC1H1):c.4016T>C (p.Val1339Ala)
NM_001376.5(DYNC1H1):c.4030G>A (p.Asp1344Asn) rs575285403
NM_001376.5(DYNC1H1):c.4037T>C (p.Met1346Thr)
NM_001376.5(DYNC1H1):c.4070G>A (p.Arg1357Gln)
NM_001376.5(DYNC1H1):c.4074+4_4074+5delinsAT rs2141285280
NM_001376.5(DYNC1H1):c.4075-15T>A
NM_001376.5(DYNC1H1):c.4075-15del
NM_001376.5(DYNC1H1):c.4079G>A (p.Arg1360Gln)
NM_001376.5(DYNC1H1):c.4107G>T (p.Gln1369His)
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln) rs2048124807
NM_001376.5(DYNC1H1):c.4139A>G (p.Tyr1380Cys)
NM_001376.5(DYNC1H1):c.4142C>T (p.Ala1381Val)
NM_001376.5(DYNC1H1):c.4148A>G (p.Tyr1383Cys) rs2141285806
NM_001376.5(DYNC1H1):c.4172A>G (p.Lys1391Arg)
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4190A>G (p.Asn1397Ser)
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.4196T>A (p.Leu1399Gln) rs2048126271
NM_001376.5(DYNC1H1):c.4202T>C (p.Ile1401Thr)
NM_001376.5(DYNC1H1):c.4222C>G (p.Leu1408Val)
NM_001376.5(DYNC1H1):c.4227A>C (p.Lys1409Asn) rs1941718258
NM_001376.5(DYNC1H1):c.4231C>T (p.Arg1411Cys) rs1567006266
NM_001376.5(DYNC1H1):c.4232G>A (p.Arg1411His)
NM_001376.5(DYNC1H1):c.4242A>C (p.Lys1414Asn)
NM_001376.5(DYNC1H1):c.4249A>T (p.Met1417Leu)
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
NM_001376.5(DYNC1H1):c.4257G>C (p.Arg1419Ser) rs2048126705
NM_001376.5(DYNC1H1):c.4276G>T (p.Val1426Phe)
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys) rs2048126921
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn) rs1171366952
NM_001376.5(DYNC1H1):c.4291del (p.Gly1432fs)
NM_001376.5(DYNC1H1):c.4315T>G (p.Leu1439Val) rs2048127456
NM_001376.5(DYNC1H1):c.431C>T (p.Ser144Leu)
NM_001376.5(DYNC1H1):c.4351C>G (p.Leu1451Val)
NM_001376.5(DYNC1H1):c.4382A>G (p.Glu1461Gly)
NM_001376.5(DYNC1H1):c.4384T>A (p.Phe1462Ile)
NM_001376.5(DYNC1H1):c.4410G>A (p.Trp1470Ter)
NM_001376.5(DYNC1H1):c.4435A>C (p.Asn1479His)
NM_001376.5(DYNC1H1):c.4453C>T (p.Arg1485Cys)
NM_001376.5(DYNC1H1):c.4461C>G (p.Ile1487Met)
NM_001376.5(DYNC1H1):c.4471G>A (p.Asp1491Asn)
NM_001376.5(DYNC1H1):c.4482C>G (p.Phe1494Leu)
NM_001376.5(DYNC1H1):c.4502T>C (p.Ile1501Thr)
NM_001376.5(DYNC1H1):c.4505A>G (p.Asn1502Ser)
NM_001376.5(DYNC1H1):c.4514C>T (p.Ser1505Leu)
NM_001376.5(DYNC1H1):c.4525C>T (p.Leu1509Phe)
NM_001376.5(DYNC1H1):c.4542+6G>T rs375822798
NM_001376.5(DYNC1H1):c.4572A>T (p.Glu1524Asp) rs2048144507
NM_001376.5(DYNC1H1):c.4573G>C (p.Asp1525His)
NM_001376.5(DYNC1H1):c.4594G>A (p.Ala1532Thr)
NM_001376.5(DYNC1H1):c.461G>A (p.Ser154Asn)
NM_001376.5(DYNC1H1):c.4624A>G (p.Arg1542Gly) rs1567006939
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4710-6T>A
NM_001376.5(DYNC1H1):c.473C>T (p.Ala158Val)
NM_001376.5(DYNC1H1):c.4744G>A (p.Val1582Met)
NM_001376.5(DYNC1H1):c.4759C>G (p.Leu1587Val) rs866469461
NM_001376.5(DYNC1H1):c.4784A>G (p.Gln1595Arg)
NM_001376.5(DYNC1H1):c.4811T>G (p.Leu1604Trp) rs2141287084
NM_001376.5(DYNC1H1):c.4838A>G (p.Lys1613Arg)
NM_001376.5(DYNC1H1):c.4864G>C (p.Glu1622Gln)
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys) rs2048174582
NM_001376.5(DYNC1H1):c.491A>G (p.Tyr164Cys)
NM_001376.5(DYNC1H1):c.4944del (p.Lys1649fs)
NM_001376.5(DYNC1H1):c.499G>A (p.Glu167Lys) rs1057031512
NM_001376.5(DYNC1H1):c.5007T>A (p.Asp1669Glu)
NM_001376.5(DYNC1H1):c.5008A>C (p.Asn1670His)
NM_001376.5(DYNC1H1):c.5015_5016delinsCA (p.Val1672Ala)
NM_001376.5(DYNC1H1):c.5049+5A>G rs2048176551
NM_001376.5(DYNC1H1):c.5049+5del rs936106375
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.50A>G (p.Glu17Gly)
NM_001376.5(DYNC1H1):c.5123A>T (p.Glu1708Val) rs2141288705
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.517A>G (p.Arg173Gly) rs1465527547
NM_001376.5(DYNC1H1):c.518+4A>G
NM_001376.5(DYNC1H1):c.5191A>G (p.Thr1731Ala)
NM_001376.5(DYNC1H1):c.5192C>T (p.Thr1731Ile) rs2141288753
NM_001376.5(DYNC1H1):c.5195C>G (p.Ser1732Ter)
NM_001376.5(DYNC1H1):c.5203C>T (p.Pro1735Ser)
NM_001376.5(DYNC1H1):c.5209A>G (p.Thr1737Ala) rs1064797192
NM_001376.5(DYNC1H1):c.5218A>G (p.Thr1740Ala)
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val) rs1595597551
NM_001376.5(DYNC1H1):c.5237A>G (p.Gln1746Arg)
NM_001376.5(DYNC1H1):c.5240C>G (p.Ala1747Gly)
NM_001376.5(DYNC1H1):c.5248G>T (p.Val1750Leu)
NM_001376.5(DYNC1H1):c.5263C>A (p.Gln1755Lys)
NM_001376.5(DYNC1H1):c.5272T>C (p.Trp1758Arg)
NM_001376.5(DYNC1H1):c.5276_5316del (p.Ser1759fs)
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser) rs2048181510
NM_001376.5(DYNC1H1):c.5291C>T (p.Thr1764Ile) rs2141288926
NM_001376.5(DYNC1H1):c.5303G>T (p.Ser1768Ile)
NM_001376.5(DYNC1H1):c.5304C>G (p.Ser1768Arg)
NM_001376.5(DYNC1H1):c.5307G>C (p.Met1769Ile) rs2141288959
NM_001376.5(DYNC1H1):c.5365C>G (p.Leu1789Val)
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln) rs1346194464
NM_001376.5(DYNC1H1):c.5417G>A (p.Arg1806Gln) rs2048183544
NM_001376.5(DYNC1H1):c.5432T>C (p.Leu1811Ser)
NM_001376.5(DYNC1H1):c.5433G>A (p.Leu1811=)
NM_001376.5(DYNC1H1):c.5433_5433+27dup rs1382359405
NM_001376.5(DYNC1H1):c.544G>T (p.Val182Phe)
NM_001376.5(DYNC1H1):c.5485A>C (p.Lys1829Gln)
NM_001376.5(DYNC1H1):c.5486A>G (p.Lys1829Arg) rs2141289585
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5500A>C (p.Lys1834Gln)
NM_001376.5(DYNC1H1):c.5504C>A (p.Ser1835Tyr)
NM_001376.5(DYNC1H1):c.5515C>G (p.Leu1839Val)
NM_001376.5(DYNC1H1):c.5519G>T (p.Ser1840Ile) rs2141289622
NM_001376.5(DYNC1H1):c.5527C>T (p.Arg1843Ter) rs2048192622
NM_001376.5(DYNC1H1):c.5533T>C (p.Tyr1845His) rs2141289638
NM_001376.5(DYNC1H1):c.5551A>T (p.Thr1851Ser)
NM_001376.5(DYNC1H1):c.5572T>A (p.Ser1858Thr)
NM_001376.5(DYNC1H1):c.5594A>C (p.Lys1865Thr)
NM_001376.5(DYNC1H1):c.5595A>T (p.Lys1865Asn)
NM_001376.5(DYNC1H1):c.5624T>C (p.Val1875Ala)
NM_001376.5(DYNC1H1):c.5626C>G (p.Gln1876Glu)
NM_001376.5(DYNC1H1):c.5650dup (p.Leu1884fs)
NM_001376.5(DYNC1H1):c.5659C>A (p.Arg1887Ser)
NM_001376.5(DYNC1H1):c.5717-3C>T
NM_001376.5(DYNC1H1):c.5717-7T>G rs2141290370
NM_001376.5(DYNC1H1):c.5766G>C (p.Gln1922His)
NM_001376.5(DYNC1H1):c.5773C>T (p.Arg1925Trp)
NM_001376.5(DYNC1H1):c.5797G>A (p.Asp1933Asn)
NM_001376.5(DYNC1H1):c.5828G>A (p.Arg1943Gln) rs372377918
NM_001376.5(DYNC1H1):c.5828G>T (p.Arg1943Leu) rs372377918
NM_001376.5(DYNC1H1):c.5861G>A (p.Trp1954Ter)
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001376.5(DYNC1H1):c.5906C>T (p.Ser1969Leu) rs2141291313
NM_001376.5(DYNC1H1):c.5945T>G (p.Leu1982Arg)
NM_001376.5(DYNC1H1):c.5960A>T (p.Asn1987Ile) rs957164618
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del) rs1278877639
NM_001376.5(DYNC1H1):c.5977+6A>C
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.6011A>G (p.Lys2004Arg)
NM_001376.5(DYNC1H1):c.6026G>T (p.Ser2009Ile)
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala) rs2048239251
NM_001376.5(DYNC1H1):c.6034A>G (p.Met2012Val)
NM_001376.5(DYNC1H1):c.6043T>C (p.Phe2015Leu) rs2152577497
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser) rs2048239365
NM_001376.5(DYNC1H1):c.6068C>T (p.Ala2023Val)
NM_001376.5(DYNC1H1):c.608C>T (p.Pro203Leu)
NM_001376.5(DYNC1H1):c.6092A>G (p.Asn2031Ser)
NM_001376.5(DYNC1H1):c.6109C>T (p.Arg2037Trp) rs2048239679
NM_001376.5(DYNC1H1):c.6125C>A (p.Thr2042Asn)
NM_001376.5(DYNC1H1):c.6133G>A (p.Asp2045Asn)
NM_001376.5(DYNC1H1):c.6137G>A (p.Arg2046Gln)
NM_001376.5(DYNC1H1):c.6208G>A (p.Val2070Ile)
NM_001376.5(DYNC1H1):c.6215T>C (p.Phe2072Ser)
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6272G>C (p.Arg2091Pro)
NM_001376.5(DYNC1H1):c.6274G>T (p.Ala2092Ser)
NM_001376.5(DYNC1H1):c.6287_6288del (p.Val2096fs)
NM_001376.5(DYNC1H1):c.6307G>A (p.Val2103Met)
NM_001376.5(DYNC1H1):c.6333A>G (p.Ile2111Met)
NM_001376.5(DYNC1H1):c.6343A>C (p.Lys2115Gln) rs2152577826
NM_001376.5(DYNC1H1):c.6347A>G (p.Glu2116Gly)
NM_001376.5(DYNC1H1):c.634A>T (p.Met212Leu)
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg) rs1595614266
NM_001376.5(DYNC1H1):c.636G>A (p.Met212Ile)
NM_001376.5(DYNC1H1):c.6376G>A (p.Glu2126Lys)
NM_001376.5(DYNC1H1):c.6381T>G (p.Ile2127Met)
NM_001376.5(DYNC1H1):c.6382G>A (p.Ala2128Thr)
NM_001376.5(DYNC1H1):c.6405+4_6405+44del rs1266891331
NM_001376.5(DYNC1H1):c.641C>T (p.Thr214Ile) rs2141269742
NM_001376.5(DYNC1H1):c.6431C>T (p.Thr2144Met)
NM_001376.5(DYNC1H1):c.6446T>G (p.Leu2149Arg)
NM_001376.5(DYNC1H1):c.6464C>T (p.Pro2155Leu) rs1390255004
NM_001376.5(DYNC1H1):c.6507G>T (p.Gln2169His) rs2152578187
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6517G>A (p.Gly2173Ser) rs2152578197
NM_001376.5(DYNC1H1):c.6541G>C (p.Glu2181Gln)
NM_001376.5(DYNC1H1):c.6550A>G (p.Lys2184Glu) rs2152578236
NM_001376.5(DYNC1H1):c.6593A>C (p.Glu2198Ala)
NM_001376.5(DYNC1H1):c.65A>G (p.Gln22Arg) rs2141258494
NM_001376.5(DYNC1H1):c.6604A>C (p.Met2202Leu)
NM_001376.5(DYNC1H1):c.6611T>C (p.Val2204Ala)
NM_001376.5(DYNC1H1):c.6618+5C>T rs777017923
NM_001376.5(DYNC1H1):c.6618+6_6618+7del
NM_001376.5(DYNC1H1):c.6619-10G>A
NM_001376.5(DYNC1H1):c.6636G>T (p.Gln2212His) rs2048263087
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys) rs2048263659
NM_001376.5(DYNC1H1):c.6718G>T (p.Ala2240Ser)
NM_001376.5(DYNC1H1):c.6724G>T (p.Glu2242Ter)
NM_001376.5(DYNC1H1):c.6745G>A (p.Gly2249Ser)
NM_001376.5(DYNC1H1):c.6779G>A (p.Ser2260Asn)
NM_001376.5(DYNC1H1):c.682A>G (p.Lys228Glu) rs2141269775
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn) rs1232919238
NM_001376.5(DYNC1H1):c.6858-14T>A
NM_001376.5(DYNC1H1):c.6858-9C>G
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6865G>A (p.Asp2289Asn)
NM_001376.5(DYNC1H1):c.6883_6884delinsGG (p.Leu2295Gly) rs2152579373
NM_001376.5(DYNC1H1):c.6892C>T (p.Arg2298Cys) rs2152579378
NM_001376.5(DYNC1H1):c.6896A>C (p.Gln2299Pro)
NM_001376.5(DYNC1H1):c.6910G>A (p.Asp2304Asn)
NM_001376.5(DYNC1H1):c.6928G>A (p.Glu2310Lys)
NM_001376.5(DYNC1H1):c.6933G>A (p.Trp2311Ter)
NM_001376.5(DYNC1H1):c.694T>G (p.Phe232Val)
NM_001376.5(DYNC1H1):c.6964A>G (p.Asn2322Asp)
NM_001376.5(DYNC1H1):c.6977C>G (p.Thr2326Ser)
NM_001376.5(DYNC1H1):c.6997C>T (p.Leu2333Phe) rs1131691358
NM_001376.5(DYNC1H1):c.7000A>T (p.Ser2334Cys)
NM_001376.5(DYNC1H1):c.7003C>A (p.Leu2335Ile)
NM_001376.5(DYNC1H1):c.7007C>T (p.Pro2336Leu)
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7014T>C (p.Asn2338=)
NM_001376.5(DYNC1H1):c.701A>G (p.Asp234Gly)
NM_001376.5(DYNC1H1):c.7047A>C (p.Lys2349Asn) rs765427772
NM_001376.5(DYNC1H1):c.7052C>T (p.Ala2351Val)
NM_001376.5(DYNC1H1):c.7060G>A (p.Ala2354Thr)
NM_001376.5(DYNC1H1):c.7070C>T (p.Ser2357Leu)
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001376.5(DYNC1H1):c.7118T>A (p.Met2373Lys)
NM_001376.5(DYNC1H1):c.7125C>A (p.Phe2375Leu)
NM_001376.5(DYNC1H1):c.7139C>T (p.Ala2380Val)
NM_001376.5(DYNC1H1):c.7148G>T (p.Arg2383Leu)
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp) rs1595616794
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro) rs912429154
NM_001376.5(DYNC1H1):c.719C>T (p.Thr240Ile)
NM_001376.5(DYNC1H1):c.7209T>A (p.Asp2403Glu) rs2048307376
NM_001376.5(DYNC1H1):c.7212G>T (p.Glu2404Asp)
NM_001376.5(DYNC1H1):c.7213G>C (p.Gly2405Arg)
NM_001376.5(DYNC1H1):c.7218G>C (p.Glu2406Asp) rs2152581615
NM_001376.5(DYNC1H1):c.7235T>C (p.Met2412Thr) rs1296667481
NM_001376.5(DYNC1H1):c.7250G>A (p.Arg2417Lys) rs927181915
NM_001376.5(DYNC1H1):c.7267A>G (p.Met2423Val)
NM_001376.5(DYNC1H1):c.7268T>C (p.Met2423Thr)
NM_001376.5(DYNC1H1):c.7289A>G (p.Asn2430Ser) rs2152581954
NM_001376.5(DYNC1H1):c.7300A>C (p.Thr2434Pro) rs2152581974
NM_001376.5(DYNC1H1):c.730C>G (p.Gln244Glu) rs2047843892
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr) rs757980661
NM_001376.5(DYNC1H1):c.731A>G (p.Gln244Arg)
NM_001376.5(DYNC1H1):c.7336A>T (p.Ile2446Phe)
NM_001376.5(DYNC1H1):c.7352G>A (p.Arg2451His)
NM_001376.5(DYNC1H1):c.7357C>T (p.Arg2453Cys)
NM_001376.5(DYNC1H1):c.7366G>A (p.Gly2456Ser)
NM_001376.5(DYNC1H1):c.7370C>T (p.Ser2457Leu) rs2152582020
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.7392G>A (p.Gln2464=) rs2152582036
NM_001376.5(DYNC1H1):c.739T>C (p.Ser247Pro)
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys) rs1595590120
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7400G>T (p.Arg2467Leu)
NM_001376.5(DYNC1H1):c.7405G>A (p.Val2469Met) rs2152582047
NM_001376.5(DYNC1H1):c.7412A>G (p.Gln2471Arg)
NM_001376.5(DYNC1H1):c.7426C>T (p.His2476Tyr)
NM_001376.5(DYNC1H1):c.7434C>A (p.Asp2478Glu)
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7439C>T (p.Pro2480Leu) rs1229845145
NM_001376.5(DYNC1H1):c.7473+3C>T rs2048318089
NM_001376.5(DYNC1H1):c.7473+6G>T
NM_001376.5(DYNC1H1):c.7474-12C>T
NM_001376.5(DYNC1H1):c.7474-3T>A
NM_001376.5(DYNC1H1):c.7474C>A (p.Arg2492=)
NM_001376.5(DYNC1H1):c.7492A>T (p.Ile2498Leu)
NM_001376.5(DYNC1H1):c.7502C>T (p.Ser2501Phe) rs2152582351
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.7529T>C (p.Met2510Thr)
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser) rs753894340
NM_001376.5(DYNC1H1):c.7559G>A (p.Arg2520Lys) rs985261953
NM_001376.5(DYNC1H1):c.7582A>G (p.Thr2528Ala)
NM_001376.5(DYNC1H1):c.7594A>G (p.Ile2532Val)
NM_001376.5(DYNC1H1):c.7600A>G (p.Ile2534Val) rs1778579601
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7621A>G (p.Ile2541Val)
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) rs1057518888
NM_001376.5(DYNC1H1):c.7649C>T (p.Ala2550Val)
NM_001376.5(DYNC1H1):c.7679A>G (p.His2560Arg) rs1567012734
NM_001376.5(DYNC1H1):c.7711A>G (p.Thr2571Ala)
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys) rs2048329586
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His) rs756288729
NM_001376.5(DYNC1H1):c.7729C>T (p.His2577Tyr)
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys) rs749628606
NM_001376.5(DYNC1H1):c.774+2_774+5del
NM_001376.5(DYNC1H1):c.7768C>G (p.Pro2590Ala) rs2152582733
NM_001376.5(DYNC1H1):c.7789C>T (p.Pro2597Ser) rs2048330369
NM_001376.5(DYNC1H1):c.780_788del (p.Lys261_Asp263del)
NM_001376.5(DYNC1H1):c.7825C>T (p.Leu2609Phe)
NM_001376.5(DYNC1H1):c.7828C>T (p.Arg2610Trp)
NM_001376.5(DYNC1H1):c.7843A>C (p.Met2615Leu) rs1207825074
NM_001376.5(DYNC1H1):c.7848+6G>C
NM_001376.5(DYNC1H1):c.7849-7T>G rs2048332125
NM_001376.5(DYNC1H1):c.7851G>A (p.Val2617=) rs1041508059
NM_001376.5(DYNC1H1):c.7879A>G (p.Thr2627Ala)
NM_001376.5(DYNC1H1):c.7905del (p.Phe2635fs) rs2048332709
NM_001376.5(DYNC1H1):c.790C>T (p.Arg264Ter)
NM_001376.5(DYNC1H1):c.7912T>C (p.Tyr2638His) rs2048332764
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.7925G>A (p.Arg2642Lys) rs1336516693
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile) rs2048333160
NM_001376.5(DYNC1H1):c.7945G>A (p.Val2649Ile)
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr) rs1240479409
NM_001376.5(DYNC1H1):c.7957G>C (p.Val2653Leu) rs1208612980
NM_001376.5(DYNC1H1):c.7966G>A (p.Gly2656Arg)
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu) rs2047849651
NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val) rs367991209
NM_001376.5(DYNC1H1):c.799G>A (p.Ala267Thr) rs2141270143
NM_001376.5(DYNC1H1):c.8012T>C (p.Met2671Thr)
NM_001376.5(DYNC1H1):c.8013G>A (p.Met2671Ile)
NM_001376.5(DYNC1H1):c.802T>C (p.Ser268Pro)
NM_001376.5(DYNC1H1):c.8052A>G (p.Arg2684=)
NM_001376.5(DYNC1H1):c.8055+6T>A rs766505305
NM_001376.5(DYNC1H1):c.8056A>T (p.Met2686Leu)
NM_001376.5(DYNC1H1):c.805G>C (p.Gly269Arg)
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8078A>G (p.Tyr2693Cys)
NM_001376.5(DYNC1H1):c.8110G>A (p.Glu2704Lys)
NM_001376.5(DYNC1H1):c.8165C>A (p.Pro2722His)
NM_001376.5(DYNC1H1):c.8176A>C (p.Arg2726=) rs1285457241
NM_001376.5(DYNC1H1):c.8178-3C>T
NM_001376.5(DYNC1H1):c.8194C>T (p.Pro2732Ser)
NM_001376.5(DYNC1H1):c.8230C>G (p.Leu2744Val)
NM_001376.5(DYNC1H1):c.8233A>C (p.Thr2745Pro)
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys) rs2048350905
NM_001376.5(DYNC1H1):c.8283_8284delinsAG (p.Leu2762Val)
NM_001376.5(DYNC1H1):c.8303C>T (p.Pro2768Leu)
NM_001376.5(DYNC1H1):c.8328C>G (p.Phe2776Leu)
NM_001376.5(DYNC1H1):c.8343+3A>G
NM_001376.5(DYNC1H1):c.8343+5G>T
NM_001376.5(DYNC1H1):c.8377A>G (p.Ile2793Val)
NM_001376.5(DYNC1H1):c.8389C>G (p.Arg2797Gly)
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His) rs2152584603
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp) rs765882472
NM_001376.5(DYNC1H1):c.8400T>A (p.Thr2800=)
NM_001376.5(DYNC1H1):c.8425G>A (p.Ala2809Thr)
NM_001376.5(DYNC1H1):c.8461C>G (p.Leu2821Val) rs2048366964
NM_001376.5(DYNC1H1):c.8467C>T (p.Arg2823Trp) rs1248835520
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys) rs764341361
NM_001376.5(DYNC1H1):c.8485G>T (p.Ala2829Ser)
NM_001376.5(DYNC1H1):c.8486C>T (p.Ala2829Val) rs2048367270
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His) rs1595597922
NM_001376.5(DYNC1H1):c.8492G>A (p.Arg2831His) rs2152584657
NM_001376.5(DYNC1H1):c.8507G>A (p.Arg2836Lys) rs2048367430
NM_001376.5(DYNC1H1):c.8508-3C>T
NM_001376.5(DYNC1H1):c.8517G>C (p.Glu2839Asp)
NM_001376.5(DYNC1H1):c.8523G>C (p.Glu2841Asp)
NM_001376.5(DYNC1H1):c.8528G>A (p.Arg2843Lys)
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys) rs2048401118
NM_001376.5(DYNC1H1):c.8548A>G (p.Ile2850Val)
NM_001376.5(DYNC1H1):c.8548A>T (p.Ile2850Phe)
NM_001376.5(DYNC1H1):c.854T>C (p.Leu285Ser)
NM_001376.5(DYNC1H1):c.8570del (p.His2857fs)
NM_001376.5(DYNC1H1):c.8576C>T (p.Pro2859Leu)
NM_001376.5(DYNC1H1):c.8581A>G (p.Ile2861Val) rs2152586413
NM_001376.5(DYNC1H1):c.8599A>G (p.Met2867Val)
NM_001376.5(DYNC1H1):c.85G>C (p.Val29Leu)
NM_001376.5(DYNC1H1):c.8606G>C (p.Arg2869Pro)
NM_001376.5(DYNC1H1):c.860G>A (p.Arg287His)
NM_001376.5(DYNC1H1):c.8630T>G (p.Leu2877Arg)
NM_001376.5(DYNC1H1):c.8638-3T>C
NM_001376.5(DYNC1H1):c.8653G>C (p.Asp2885His) rs2048454256
NM_001376.5(DYNC1H1):c.8694G>C (p.Lys2898Asn)
NM_001376.5(DYNC1H1):c.8702A>G (p.Tyr2901Cys)
NM_001376.5(DYNC1H1):c.8704GAA[2] (p.Glu2904del)
NM_001376.5(DYNC1H1):c.8734T>C (p.Phe2912Leu)
NM_001376.5(DYNC1H1):c.8751C>G (p.Asp2917Glu) rs2152588718
NM_001376.5(DYNC1H1):c.8755G>A (p.Val2919Met)
NM_001376.5(DYNC1H1):c.8771+5G>C
NM_001376.5(DYNC1H1):c.8771+6C>A rs756924858
NM_001376.5(DYNC1H1):c.8771G>A (p.Arg2924Lys) rs2152588723
NM_001376.5(DYNC1H1):c.8779C>T (p.Arg2927Cys) rs2152588919
NM_001376.5(DYNC1H1):c.8782_8783delinsTT (p.Gln2928Leu) rs2152588934
NM_001376.5(DYNC1H1):c.8786C>G (p.Pro2929Arg)
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.8842C>T (p.Arg2948Cys)
NM_001376.5(DYNC1H1):c.8848G>A (p.Val2950Ile)
NM_001376.5(DYNC1H1):c.8851G>A (p.Ala2951Thr)
NM_001376.5(DYNC1H1):c.8856G>A (p.Trp2952Ter)
NM_001376.5(DYNC1H1):c.8859G>A (p.Met2953Ile)
NM_001376.5(DYNC1H1):c.8864G>A (p.Gly2955Asp)
NM_001376.5(DYNC1H1):c.886G>C (p.Glu296Gln)
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8891del (p.His2964fs)
NM_001376.5(DYNC1H1):c.8902A>G (p.Thr2968Ala) rs2152589038
NM_001376.5(DYNC1H1):c.892C>T (p.Leu298Phe)
NM_001376.5(DYNC1H1):c.8965A>G (p.Lys2989Glu)
NM_001376.5(DYNC1H1):c.8995G>C (p.Val2999Leu)
NM_001376.5(DYNC1H1):c.9048+4dup
NM_001376.5(DYNC1H1):c.9053C>G (p.Pro3018Arg) rs2152589129
NM_001376.5(DYNC1H1):c.9073G>A (p.Glu3025Lys)
NM_001376.5(DYNC1H1):c.9087_9088delinsTT (p.Leu3029_Met3030delinsPheLeu)
NM_001376.5(DYNC1H1):c.9109G>A (p.Ala3037Thr)
NM_001376.5(DYNC1H1):c.9113_9116del (p.Gln3038fs) rs2152589159
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.91C>T (p.Gln31Ter)
NM_001376.5(DYNC1H1):c.9215C>T (p.Ser3072Leu)
NM_001376.5(DYNC1H1):c.9219G>A (p.Glu3073=) rs2048466890
NM_001376.5(DYNC1H1):c.9232C>T (p.Arg3078Trp)
NM_001376.5(DYNC1H1):c.9242C>T (p.Thr3081Ile) rs1555410958
NM_001376.5(DYNC1H1):c.9263+5G>T
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=) rs2048468944
NM_001376.5(DYNC1H1):c.9295A>G (p.Thr3099Ala) rs2152589296
NM_001376.5(DYNC1H1):c.932A>T (p.His311Leu)
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg) rs374952401
NM_001376.5(DYNC1H1):c.9337A>G (p.Met3113Val) rs1046324894
NM_001376.5(DYNC1H1):c.9342T>A (p.Asp3114Glu) rs2152589319
NM_001376.5(DYNC1H1):c.9367C>T (p.Pro3123Ser) rs2048469916
NM_001376.5(DYNC1H1):c.9374A>G (p.Tyr3125Cys) rs2152589339
NM_001376.5(DYNC1H1):c.9376A>G (p.Met3126Val) rs2152589343
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.9424G>A (p.Ala3142Thr)
NM_001376.5(DYNC1H1):c.9424G>T (p.Ala3142Ser)
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser) rs2048470595
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg) rs1053560376
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His) rs2048470929
NM_001376.5(DYNC1H1):c.9463C>T (p.His3155Tyr)
NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)
NM_001376.5(DYNC1H1):c.9482T>C (p.Leu3161Pro)
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9554A>G (p.Asn3185Ser)
NM_001376.5(DYNC1H1):c.9554A>T (p.Asn3185Ile)
NM_001376.5(DYNC1H1):c.9561C>G (p.Phe3187Leu)
NM_001376.5(DYNC1H1):c.9571C>T (p.Arg3191Trp)
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9584A>T (p.Glu3195Val) rs2152590164
NM_001376.5(DYNC1H1):c.9589C>G (p.Gln3197Glu)
NM_001376.5(DYNC1H1):c.9592C>G (p.Gln3198Glu)
NM_001376.5(DYNC1H1):c.959C>G (p.Thr320Arg)
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9608T>A (p.Val3203Glu) rs2152590172
NM_001376.5(DYNC1H1):c.961+10A>G
NM_001376.5(DYNC1H1):c.961+5C>G
NM_001376.5(DYNC1H1):c.9642+4C>T rs773101138
NM_001376.5(DYNC1H1):c.9642+5G>T
NM_001376.5(DYNC1H1):c.9655C>T (p.Arg3219Cys) rs1555411141
NM_001376.5(DYNC1H1):c.9656G>A (p.Arg3219His) rs1460582982
NM_001376.5(DYNC1H1):c.9659G>A (p.Arg3220His) rs868813394
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9703G>A (p.Ala3235Thr)
NM_001376.5(DYNC1H1):c.9745G>A (p.Glu3249Lys)
NM_001376.5(DYNC1H1):c.9762+3A>G
NM_001376.5(DYNC1H1):c.9762+4T>C
NM_001376.5(DYNC1H1):c.9762+6del rs1341822110
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.9827T>A (p.Met3276Lys) rs1199619119
NM_001376.5(DYNC1H1):c.9827T>G (p.Met3276Arg)
NM_001376.5(DYNC1H1):c.9850A>C (p.Lys3284Gln)
NM_001376.5(DYNC1H1):c.9851A>G (p.Lys3284Arg)
NM_001376.5(DYNC1H1):c.9853G>A (p.Val3285Met) rs2048495282
NM_001376.5(DYNC1H1):c.9865G>A (p.Val3289Ile)
NM_001376.5(DYNC1H1):c.9865G>C (p.Val3289Leu)
NM_001376.5(DYNC1H1):c.9869T>C (p.Ile3290Thr) rs750222078
NM_001376.5(DYNC1H1):c.9874G>T (p.Ala3292Ser) rs2048495474
NM_001376.5(DYNC1H1):c.9883+3A>G rs2048495549
NM_001376.5(DYNC1H1):c.9893C>T (p.Ser3298Leu)
NM_001376.5(DYNC1H1):c.9896T>C (p.Ile3299Thr)
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu) rs2048518278
NM_001376.5(DYNC1H1):c.999T>A (p.Asn333Lys)
NM_001376.5(DYNC1H1):c.99C>A (p.His33Gln)
NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)
NM_001540.5(HSPB1):c.109C>T (p.Arg37Trp)
NM_001540.5(HSPB1):c.112C>A (p.Leu38Met)
NM_001540.5(HSPB1):c.118G>T (p.Glu40Ter)
NM_001540.5(HSPB1):c.119A>T (p.Glu40Val)
NM_001540.5(HSPB1):c.11G>A (p.Arg4His)
NM_001540.5(HSPB1):c.128C>G (p.Ser43Trp) rs950234286
NM_001540.5(HSPB1):c.134G>A (p.Trp45Ter) rs753747742
NM_001540.5(HSPB1):c.136T>G (p.Leu46Val)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile) rs1404212306
NM_001540.5(HSPB1):c.152G>A (p.Trp51Ter)
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) rs769118115
NM_001540.5(HSPB1):c.155C>G (p.Pro52Arg)
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser) rs1803021885
NM_001540.5(HSPB1):c.16G>T (p.Val6Phe)
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_001540.5(HSPB1):c.175C>T (p.Pro59Ser) rs763084460
NM_001540.5(HSPB1):c.179C>G (p.Pro60Arg) rs112075084
NM_001540.5(HSPB1):c.180del (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.181GCC[3] (p.Ala62dup) rs748560388
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro) rs1064796602
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys) rs1803023708
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp) rs1803023868
NM_001540.5(HSPB1):c.196C>T (p.Pro66Ser)
NM_001540.5(HSPB1):c.199G>A (p.Ala67Thr)
NM_001540.5(HSPB1):c.19C>T (p.Pro7Ser) rs1563651698
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu) rs200190722
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.208G>A (p.Ala70Thr)
NM_001540.5(HSPB1):c.223C>T (p.Arg75Cys)
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile) rs1803026258
NM_001540.5(HSPB1):c.247A>T (p.Ser83Cys) rs1178583914
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu) rs1803027735
NM_001540.5(HSPB1):c.253G>A (p.Val85Ile) rs773758650
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met) rs1803028479
NM_001540.5(HSPB1):c.275C>T (p.Ala92Val) rs771014888
NM_001540.5(HSPB1):c.281G>A (p.Arg94His) rs776411885
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser) rs765142574
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.314C>A (p.Ala105Asp) rs2117158764
NM_001540.5(HSPB1):c.329C>T (p.Thr110Met)
NM_001540.5(HSPB1):c.331G>A (p.Val111Ile) rs1803031093
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln) rs1803031436
NM_001540.5(HSPB1):c.347G>A (p.Gly116Asp)
NM_001540.5(HSPB1):c.355_357del (p.Glu119del) rs1484884861
NM_001540.5(HSPB1):c.362C>G (p.Thr121Ser)
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+26del
NM_001540.5(HSPB1):c.365-11_365-9delinsATA rs2117160979
NM_001540.5(HSPB1):c.365-3A>G rs2117161041
NM_001540.5(HSPB1):c.365G>A (p.Gly122Asp)
NM_001540.5(HSPB1):c.373GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.385G>A (p.Asp129Asn) rs2117161160
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.40C>T (p.Pro14Ser)
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.428+5G>C rs1169656002
NM_001540.5(HSPB1):c.429-7C>G
NM_001540.5(HSPB1):c.437C>G (p.Pro146Arg) rs780691682
NM_001540.5(HSPB1):c.457G>A (p.Val153Ile)
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala) rs1158758405
NM_001540.5(HSPB1):c.460TCC[2] (p.Ser156del) rs2117161860
NM_001540.5(HSPB1):c.473C>G (p.Ser158Cys) rs1327017762
NM_001540.5(HSPB1):c.478G>C (p.Glu160Gln)
NM_001540.5(HSPB1):c.498G>C (p.Glu166Asp) rs148357753
NM_001540.5(HSPB1):c.502C>T (p.Pro168Ser)
NM_001540.5(HSPB1):c.503C>T (p.Pro168Leu)
NM_001540.5(HSPB1):c.507G>A (p.Met169Ile)
NM_001540.5(HSPB1):c.518C>T (p.Ala173Val)
NM_001540.5(HSPB1):c.52C>A (p.Pro18Thr) rs1803014417
NM_001540.5(HSPB1):c.52C>T (p.Pro18Ser) rs1803014417
NM_001540.5(HSPB1):c.530A>T (p.Asn177Ile) rs931154885
NM_001540.5(HSPB1):c.536T>C (p.Ile179Thr)
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro) rs1803071312
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr) rs104894020
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile) rs1803072212
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu) rs774585320
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr) rs1803072933
NM_001540.5(HSPB1):c.571_583del (p.Leu191fs)
NM_001540.5(HSPB1):c.576_578del (p.Gly193del) rs777055559
NM_001540.5(HSPB1):c.58C>A (p.Arg20Ser)
NM_001540.5(HSPB1):c.599A>T (p.Asp200Val)
NM_001540.5(HSPB1):c.600T>G (p.Asp200Glu)
NM_001540.5(HSPB1):c.602A>G (p.Glu201Gly)
NM_001540.5(HSPB1):c.607GCC[1] (p.Ala204del) rs1276065076
NM_001540.5(HSPB1):c.609dup (p.Ala204fs) rs1563653037
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser) rs367857772
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn) rs1310856057
NM_001540.5(HSPB1):c.66G>C (p.Trp22Cys) rs2117157792
NM_001540.5(HSPB1):c.74_95dup (p.Ala32_Phe33insTer) rs2117157815
NM_001540.5(HSPB1):c.75T>G (p.His25Gln)
NM_001540.5(HSPB1):c.7G>A (p.Glu3Lys) rs748003351
NM_001540.5(HSPB1):c.80G>A (p.Arg27His)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala) rs771709777
NM_001540.5(HSPB1):c.94G>T (p.Ala32Ser)
NM_001540.5(HSPB1):c.95C>A (p.Ala32Asp)
NM_001605.3(AARS1):c.1006C>T (p.His336Tyr) rs756594937
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.1033T>A (p.Phe345Ile)
NM_001605.3(AARS1):c.1036T>C (p.Phe346Leu) rs765790521
NM_001605.3(AARS1):c.1042A>G (p.Thr348Ala) rs1483525127
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.1060G>T (p.Val354Phe) rs762395098
NM_001605.3(AARS1):c.1065G>T (p.Gln355His) rs1960314004
NM_001605.3(AARS1):c.1071+5G>T
NM_001605.3(AARS1):c.1072-3C>G
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.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.1123A>G (p.Ile375Val)
NM_001605.3(AARS1):c.1129G>A (p.Glu377Lys) rs2152160216
NM_001605.3(AARS1):c.113C>T (p.Thr38Ile) rs761574997
NM_001605.3(AARS1):c.1150A>C (p.Lys384Gln) rs1597440683
NM_001605.3(AARS1):c.1169G>A (p.Arg390His) rs1465496890
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.1180G>T (p.Asp394Tyr) rs2152160177
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.1196G>A (p.Ser399Asn)
NM_001605.3(AARS1):c.11C>A (p.Thr4Asn)
NM_001605.3(AARS1):c.11C>T (p.Thr4Ile) rs1335517508
NM_001605.3(AARS1):c.1209C>G (p.Ser403Arg)
NM_001605.3(AARS1):c.1209C>T (p.Ser403=) rs769521539
NM_001605.3(AARS1):c.1216A>T (p.Ile406Phe)
NM_001605.3(AARS1):c.1222+5_1222+7delinsTTTTTGC rs1960294143
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.1243T>A (p.Tyr415Asn)
NM_001605.3(AARS1):c.1244A>C (p.Tyr415Ser)
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.1301T>A (p.Leu434Gln) rs1960243047
NM_001605.3(AARS1):c.1310A>G (p.Asp437Gly)
NM_001605.3(AARS1):c.1321T>C (p.Phe441Leu)
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.1348C>G (p.Leu450Val) rs767096851
NM_001605.3(AARS1):c.1349T>A (p.Leu450Gln)
NM_001605.3(AARS1):c.1360G>A (p.Gly454Ser)
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>G (p.Leu465Val) rs1555540828
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.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+4A>G
NM_001605.3(AARS1):c.144+6G>T
NM_001605.3(AARS1):c.1441A>C (p.Thr481Pro)
NM_001605.3(AARS1):c.1444G>C (p.Asp482His) rs763513667
NM_001605.3(AARS1):c.145-3T>C rs1006628756
NM_001605.3(AARS1):c.1458G>C (p.Lys486Asn)
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.147T>G (p.Phe49Leu)
NM_001605.3(AARS1):c.148A>G (p.Lys50Glu)
NM_001605.3(AARS1):c.1492+3A>T
NM_001605.3(AARS1):c.1492+5G>A rs2152158281
NM_001605.3(AARS1):c.1492G>T (p.Val498Leu) rs1960227997
NM_001605.3(AARS1):c.1496T>G (p.Phe499Cys)
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.1545C>A (p.Phe515Leu) rs200578293
NM_001605.3(AARS1):c.1546G>A (p.Val516Met) rs143844046
NM_001605.3(AARS1):c.1579G>A (p.Val527Met)
NM_001605.3(AARS1):c.1586T>C (p.Leu529Pro)
NM_001605.3(AARS1):c.1591A>G (p.Lys531Glu)
NM_001605.3(AARS1):c.1606G>T (p.Ala536Ser) rs1179099210
NM_001605.3(AARS1):c.1613A>G (p.Gln538Arg)
NM_001605.3(AARS1):c.1614A>C (p.Gln538His)
NM_001605.3(AARS1):c.1640A>G (p.Tyr547Cys) rs1328218106
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.1676C>T (p.Thr559Ile) rs1960123149
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.1706G>A (p.Arg569Gln)
NM_001605.3(AARS1):c.1718T>G (p.Val573Gly) rs1167508772
NM_001605.3(AARS1):c.1725C>A (p.His575Gln)
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.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.176C>A (p.Pro59Gln) rs1337985053
NM_001605.3(AARS1):c.1776T>G (p.Phe592Leu)
NM_001605.3(AARS1):c.1778T>C (p.Ile593Thr)
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.1790G>T (p.Arg597Leu) rs777597230
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.1819G>A (p.Ala607Thr) rs377247120
NM_001605.3(AARS1):c.1822A>T (p.Thr608Ser)
NM_001605.3(AARS1):c.1828A>G (p.Ile610Val)
NM_001605.3(AARS1):c.182A>G (p.His61Arg)
NM_001605.3(AARS1):c.1837T>C (p.Phe613Leu)
NM_001605.3(AARS1):c.1840G>C (p.Ala614Pro)
NM_001605.3(AARS1):c.1847G>T (p.Arg616Leu)
NM_001605.3(AARS1):c.184C>A (p.Pro62Thr) rs779066703
NM_001605.3(AARS1):c.1852G>T (p.Val618Leu)
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
NM_001605.3(AARS1):c.1856T>C (p.Leu619Pro)
NM_001605.3(AARS1):c.1861G>A (p.Glu621Lys)
NM_001605.3(AARS1):c.1875A>T (p.Lys625Asn)
NM_001605.3(AARS1):c.1877G>C (p.Gly626Ala) rs2152154443
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.1905A>G (p.Arg635=) rs2152154405
NM_001605.3(AARS1):c.1912T>A (p.Phe638Ile) rs1960068620
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.1947C>G (p.Ile649Met)
NM_001605.3(AARS1):c.1948A>C (p.Lys650Gln) rs573789791
NM_001605.3(AARS1):c.1953G>C (p.Lys651Asn) rs771099188
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.1981G>A (p.Glu661Lys)
NM_001605.3(AARS1):c.1985C>A (p.Ala662Glu) rs2152154318
NM_001605.3(AARS1):c.1992+5G>A rs1064796467
NM_001605.3(AARS1):c.2000A>C (p.Tyr667Ser)
NM_001605.3(AARS1):c.2008G>C (p.Asp670His)
NM_001605.3(AARS1):c.2018T>A (p.Leu673Gln)
NM_001605.3(AARS1):c.2031A>T (p.Lys677Asn)
NM_001605.3(AARS1):c.2045T>A (p.Leu682Gln)
NM_001605.3(AARS1):c.2059G>A (p.Asp687Asn) rs1597435277
NM_001605.3(AARS1):c.2059G>C (p.Asp687His)
NM_001605.3(AARS1):c.2069A>C (p.Tyr690Ser) rs563959372
NM_001605.3(AARS1):c.2069A>G (p.Tyr690Cys)
NM_001605.3(AARS1):c.2071C>A (p.Pro691Thr)
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.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.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.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2132C>G (p.Ser711Cys)
NM_001605.3(AARS1):c.2138C>T (p.Pro713Leu)
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.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+5G>A rs2152153454
NM_001605.3(AARS1):c.2177+6T>A
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met) rs1480620711
NM_001605.3(AARS1):c.2178_2179delinsTT (p.His727Tyr) rs2152151946
NM_001605.3(AARS1):c.2201C>T (p.Ala734Val)
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.2227G>A (p.Glu743Lys) rs1358716596
NM_001605.3(AARS1):c.2233A>C (p.Ile745Leu)
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.2260G>A (p.Ala754Thr) rs1959974421
NM_001605.3(AARS1):c.2270G>A (p.Gly757Asp) rs2152151798
NM_001605.3(AARS1):c.2274C>G (p.Ala758=)
NM_001605.3(AARS1):c.2279C>G (p.Ala760Gly)
NM_001605.3(AARS1):c.2286+6C>T
NM_001605.3(AARS1):c.2286+9G>A
NM_001605.3(AARS1):c.2287-3C>T
NM_001605.3(AARS1):c.2294G>A (p.Arg765Lys) rs758250941
NM_001605.3(AARS1):c.229C>T (p.Arg77Trp) rs1597446225
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.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.2385C>G (p.Ile795Met) rs1283711323
NM_001605.3(AARS1):c.23G>A (p.Ser8Asn)
NM_001605.3(AARS1):c.2400+5G>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.2428T>C (p.Trp810Arg)
NM_001605.3(AARS1):c.2435A>G (p.Lys812Arg) rs1179785822
NM_001605.3(AARS1):c.2452A>G (p.Thr818Ala) rs1567601050
NM_001605.3(AARS1):c.2471A>G (p.Lys824Arg) rs2152150233
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.2494G>T (p.Ala832Ser)
NM_001605.3(AARS1):c.2495C>T (p.Ala832Val) rs2152150203
NM_001605.3(AARS1):c.2509G>A (p.Val837Ile)
NM_001605.3(AARS1):c.250G>T (p.Asp84Tyr)
NM_001605.3(AARS1):c.2520+12C>T
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.2534C>T (p.Thr845Met) rs1959908249
NM_001605.3(AARS1):c.2545A>G (p.Ile849Val)
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.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+2C>T
NM_001605.3(AARS1):c.2612T>C (p.Leu871Pro) rs2152149764
NM_001605.3(AARS1):c.2630T>C (p.Leu877Pro) rs2152149752
NM_001605.3(AARS1):c.2630T>G (p.Leu877Arg)
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.2664G>A (p.Met888Ile)
NM_001605.3(AARS1):c.2694G>T (p.Lys898Asn)
NM_001605.3(AARS1):c.2713G>T (p.Val905Phe)
NM_001605.3(AARS1):c.2720A>G (p.Gln907Arg)
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.2724T>A (p.Asn908Lys)
NM_001605.3(AARS1):c.2728G>A (p.Ala910Thr)
NM_001605.3(AARS1):c.2738G>T (p.Gly913Val) rs369774476
NM_001605.3(AARS1):c.2741del (p.Gly913_Leu914insTer) rs747345978
NM_001605.3(AARS1):c.2749A>C (p.Ser917Arg) rs2152149427
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.277T>C (p.Tyr93His)
NM_001605.3(AARS1):c.2785G>A (p.Gly929Ser)
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.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.2849A>T (p.Glu950Val) rs1205588554
NM_001605.3(AARS1):c.2859G>C (p.Gln953His)
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.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.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.2890G>A (p.Gly964Arg)
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.299T>C (p.Met100Thr)
NM_001605.3(AARS1):c.29T>C (p.Ile10Thr)
NM_001605.3(AARS1):c.333+3A>G rs747431164
NM_001605.3(AARS1):c.333+4A>C rs2152166953
NM_001605.3(AARS1):c.333G>A (p.Lys111=) rs1597446167
NM_001605.3(AARS1):c.334G>A (p.Glu112Lys)
NM_001605.3(AARS1):c.339G>C (p.Leu113Phe) rs1960558852
NM_001605.3(AARS1):c.352G>C (p.Ala118Pro)
NM_001605.3(AARS1):c.35A>G (p.Gln12Arg) rs1960733766
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.388A>G (p.Ile130Val)
NM_001605.3(AARS1):c.390T>G (p.Ile130Met)
NM_001605.3(AARS1):c.397C>G (p.Leu133Val)
NM_001605.3(AARS1):c.400T>C (p.Tyr134His) rs1960556610
NM_001605.3(AARS1):c.406A>G (p.Thr136Ala)
NM_001605.3(AARS1):c.427G>A (p.Ala143Thr) rs2152166712
NM_001605.3(AARS1):c.428C>T (p.Ala143Val)
NM_001605.3(AARS1):c.431_445del (p.Ala144_Ala148del)
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.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.479+5G>A rs1487772006
NM_001605.3(AARS1):c.480G>C (p.Gly160=) rs2152163363
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly) rs1597443484
NM_001605.3(AARS1):c.493A>G (p.Lys165Glu) rs2152163346
NM_001605.3(AARS1):c.499C>T (p.Leu167Phe)
NM_001605.3(AARS1):c.502C>T (p.Pro168Ser)
NM_001605.3(AARS1):c.50T>C (p.Phe17Ser)
NM_001605.3(AARS1):c.535G>A (p.Gly179Ser)
NM_001605.3(AARS1):c.542C>T (p.Thr181Met)
NM_001605.3(AARS1):c.556C>T (p.Pro186Ser)
NM_001605.3(AARS1):c.571C>T (p.His191Tyr)
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.615C>G (p.Asn205Lys) rs1180375496
NM_001605.3(AARS1):c.617A>G (p.Gln206Arg)
NM_001605.3(AARS1):c.61A>G (p.Asn21Asp)
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu) 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.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.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.672-10G>T
NM_001605.3(AARS1):c.672-16C>T
NM_001605.3(AARS1):c.682G>A (p.Gly228Ser)
NM_001605.3(AARS1):c.686T>C (p.Ile229Thr) rs530889354
NM_001605.3(AARS1):c.68A>G (p.His23Arg)
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.726G>C (p.Met242Ile) rs780360628
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.74A>G (p.Tyr25Cys) rs1300927114
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.778A>G (p.Thr260Ala) rs1165867512
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.811C>G (p.Gln271Glu) rs1597442182
NM_001605.3(AARS1):c.815A>C (p.Lys272Thr)
NM_001605.3(AARS1):c.816+6G>T rs2152162075
NM_001605.3(AARS1):c.817-3T>C
NM_001605.3(AARS1):c.81C>G (p.His27Gln)
NM_001605.3(AARS1):c.821C>G (p.Thr274Arg)
NM_001605.3(AARS1):c.826G>A (p.Ala276Thr)
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.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.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.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.89C>T (p.Ala30Val)
NM_001605.3(AARS1):c.907C>G (p.Arg303Gly) rs1302363015
NM_001605.3(AARS1):c.911C>A (p.Thr304Asn)
NM_001605.3(AARS1):c.911C>T (p.Thr304Ile) rs2152161709
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.937G>T (p.Gly313Cys)
NM_001605.3(AARS1):c.938G>A (p.Gly313Asp) rs1679069745
NM_001605.3(AARS1):c.941G>A (p.Arg314Gln) rs370496079
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly) rs138490305
NM_001605.3(AARS1):c.967G>T (p.Val323Leu) rs2152160767
NM_001605.3(AARS1):c.982C>A (p.Leu328Ile)
NM_002047.4(GARS1):c.1001T>C (p.Ile334Thr) rs1554338262
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.1009C>T (p.Arg337Ter) rs767696937
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1031+6G>T rs2128134034
NM_002047.4(GARS1):c.1032-6T>C
NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys) rs770934994
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.1154A>G (p.Gln385Arg) rs2128134481
NM_002047.4(GARS1):c.1155G>C (p.Gln385His) rs1584038245
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.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)
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.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.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.1264A>C (p.Ile422Leu)
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.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+3A>G
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>T (p.Cys466Phe) rs756498678
NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)
NM_002047.4(GARS1):c.1409C>G (p.Ser470Cys)
NM_002047.4(GARS1):c.1411T>A (p.Cys471Ser)
NM_002047.4(GARS1):c.1421G>A (p.Arg474Gln) rs1345590827
NM_002047.4(GARS1):c.1433T>A (p.Val478Asp) rs2128135103
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.1490T>G (p.Phe497Cys)
NM_002047.4(GARS1):c.1499G>C (p.Ser500Thr)
NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)
NM_002047.4(GARS1):c.1531G>C (p.Asp511His)
NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)
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.1592A>C (p.Glu531Ala) rs1783032476
NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)
NM_002047.4(GARS1):c.1613+3A>G
NM_002047.4(GARS1):c.1614-13T>A
NM_002047.4(GARS1):c.1622C>G (p.Thr541Arg) rs745739050
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
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.1697A>G (p.Tyr566Cys)
NM_002047.4(GARS1):c.1699+6T>A rs1362621582
NM_002047.4(GARS1):c.1700-1G>A rs1584051498
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys) rs1242186885
NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)
NM_002047.4(GARS1):c.1744_1745delinsAA (p.Gly582Asn)
NM_002047.4(GARS1):c.1745G>A (p.Gly582Asp) rs2128135873
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.1805G>A (p.Arg602Lys)
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_002047.4(GARS1):c.1810-2A>T
NM_002047.4(GARS1):c.1817G>C (p.Ser606Thr)
NM_002047.4(GARS1):c.1850C>A (p.Ser617Tyr) rs765235116
NM_002047.4(GARS1):c.1885C>G (p.Pro629Ala)
NM_002047.4(GARS1):c.1902A>G (p.Leu634=) rs2128136213
NM_002047.4(GARS1):c.1903+16T>A
NM_002047.4(GARS1):c.190_192dup (p.Leu64dup) rs1562769487
NM_002047.4(GARS1):c.1927G>A (p.Val643Ile) rs1554340789
NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)
NM_002047.4(GARS1):c.194C>A (p.Ala65Glu)
NM_002047.4(GARS1):c.194C>T (p.Ala65Val) rs1179352387
NM_002047.4(GARS1):c.1970G>A (p.Arg657His)
NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)
NM_002047.4(GARS1):c.1981A>G (p.Thr661Ala) rs1783252231
NM_002047.4(GARS1):c.1A>T (p.Met1Leu) rs1345458433
NM_002047.4(GARS1):c.2005G>A (p.Gly669Ser)
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.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.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.2159A>T (p.Glu720Val)
NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)
NM_002047.4(GARS1):c.2182G>A (p.Gly728Arg) rs1422434626
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+6G>A
NM_002047.4(GARS1):c.2220A>C (p.Ter740Cys) rs1783284502
NM_002047.4(GARS1):c.250G>A (p.Asp84Asn) rs2128132417
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.324G>A (p.Lys108=)
NM_002047.4(GARS1):c.325-2A>G
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.353T>C (p.Ile118Thr) rs1791340048
NM_002047.4(GARS1):c.373G>C (p.Glu125Gln) rs797044855
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.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.446A>G (p.Asp149Gly) rs1791365947
NM_002047.4(GARS1):c.450T>A (p.Phe150Leu) rs751505742
NM_002047.4(GARS1):c.463T>A (p.Cys155Ser)
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.516_517delinsTA (p.Glu172_Glu173delinsAspLys) rs2128132720
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.542C>T (p.Thr181Ile) rs1425456318
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.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.638G>A (p.Arg213His) rs780116880
NM_002047.4(GARS1):c.641C>A (p.Ala214Asp)
NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)
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.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.719A>C (p.Glu240Ala) rs1791423440
NM_002047.4(GARS1):c.719A>T (p.Glu240Val) rs1791423440
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr) rs775140242
NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)
NM_002047.4(GARS1):c.764C>A (p.Ala255Glu) rs765478968
NM_002047.4(GARS1):c.770T>A (p.Leu257His)
NM_002047.4(GARS1):c.790_792del (p.Lys264del) rs1791556326
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.842T>A (p.Met281Lys) rs1791558334
NM_002047.4(GARS1):c.857T>C (p.Ile286Thr)
NM_002047.4(GARS1):c.878C>T (p.Pro293Leu)
NM_002047.4(GARS1):c.883T>A (p.Tyr295Asn) rs1782769087
NM_002047.4(GARS1):c.884dup (p.Tyr295Ter)
NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)
NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr) rs1184401493
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.979G>C (p.Gly327Arg) rs1584034430
NM_002047.4(GARS1):c.982A>G (p.Asn328Asp)
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) rs199586231
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) rs1858730437
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) rs1368446033
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) rs2154008237
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) rs1768499175
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) rs2154008241
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) rs2154008248
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) rs1859389487
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) rs2154008602
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) rs1859394402
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
NM_002180.3(IGHMBP2):c.1418+5G>A
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) rs764111837
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg) rs1049595127
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) rs772984773
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) rs1859418981
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) rs926718557
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val) rs1859447330
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg) rs1594452962
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) rs1859480727
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) rs2154008764
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) rs7122089
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) rs1859483901
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) rs2154006539
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) rs1566445855
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) rs777841793
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) rs779182888
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) rs753926352
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) rs377743886
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) rs1859535346
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) rs1859535801
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) rs1859535898
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) rs746334377
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) rs536678728
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) rs1042285874
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) rs1859546493
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) rs766802836
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) rs760161861
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) rs1464851091
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) rs779854653
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) rs2154006546
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) rs755843076
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) rs766051417
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) rs753639706
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) rs2154008959
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) rs1859576991
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) rs914944175
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) rs1386297763
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) rs148605058
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.3(IGHMBP2):c.2785-3C>G rs1859669997
NM_002180.3(IGHMBP2):c.2785-3C>T rs1859669997
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) rs751847212
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) rs1859672618
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) rs775514650
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) rs1859674357
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) rs2154009288
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) rs1858277137
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) rs865849237
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) rs2154009308
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) rs886048608
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) rs1271968797
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) rs1858278685
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) rs1858281719
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) rs1004055119
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) rs1594418365
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) rs1858294631
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) rs1566425176
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) rs1280728139
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) rs369509318
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) rs752135303
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) rs1858437723
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) rs2154006946
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) rs1858583764
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) rs775600808
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) rs1555243999
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) rs1284064613
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) rs1566430083
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) rs2154007219
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) rs2154007221
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) rs759987473
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) rs763867470
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.912+4G>C
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) rs201177129
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) rs1858724192
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) rs759353094
NM_004637.6(RAB7A):c.148G>A (p.Val50Met) rs1933610846
NM_004637.6(RAB7A):c.151A>G (p.Met51Val)
NM_004637.6(RAB7A):c.180+4A>T rs1933611370
NM_004637.6(RAB7A):c.181-3C>T rs1411160897
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) rs1933806941
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) rs368804888
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) rs2107616079
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) rs1320514833
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn)
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) rs2107616088
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp)
NM_004637.6(RAB7A):c.528+2dup
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met)
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) rs2107618433
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) rs745507763
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) rs748832566
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) rs2107618449
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr)
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr)
NM_004990.4(MARS1):c.1019A>G (p.His340Arg)
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn)
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val)
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)
NM_004990.4(MARS1):c.1034G>A (p.Arg345His)
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser) rs2140017178
NM_004990.4(MARS1):c.109+7GTGCTG[3] rs763091763
NM_004990.4(MARS1):c.1091+3A>G rs2140017230
NM_004990.4(MARS1):c.1092-3C>T
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter)
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala)
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala)
NM_004990.4(MARS1):c.115G>A (p.Val39Met) rs564742568
NM_004990.4(MARS1):c.115G>C (p.Val39Leu)
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg)
NM_004990.4(MARS1):c.1171C>G (p.His391Asp)
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys)
NM_004990.4(MARS1):c.119del (p.Val40fs)
NM_004990.4(MARS1):c.1210G>A (p.Val404Met) rs370559405
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val) rs1594821386
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val) rs2140019644
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro)
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
NM_004990.4(MARS1):c.1293+5G>A rs1876872609
NM_004990.4(MARS1):c.1294-13T>C
NM_004990.4(MARS1):c.1294-5C>G rs149946100
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
NM_004990.4(MARS1):c.1369-6_1369-2del
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
NM_004990.4(MARS1):c.13G>A (p.Val5Met) rs587777227
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg)
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter)
NM_004990.4(MARS1):c.148G>A (p.Val50Ile)
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)
NM_004990.4(MARS1):c.1500del (p.Lys500fs) rs754505518
NM_004990.4(MARS1):c.1514dup (p.Pro506fs) rs1877536163
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer) rs2140033925
NM_004990.4(MARS1):c.1531_1539+14del
NM_004990.4(MARS1):c.1534del (p.Asp512fs)
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly) rs567401794
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
NM_004990.4(MARS1):c.1635+4A>G
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly) rs1875708945
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val)
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser) rs1357906437
NM_004990.4(MARS1):c.1754-1G>A rs1594833474
NM_004990.4(MARS1):c.1754-1G>C rs1594833474
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala) rs2140034963
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu) rs2140034972
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
NM_004990.4(MARS1):c.1853G>A (p.Arg618His)
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs)
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu)
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile)
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe) rs769611828
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met)
NM_004990.4(MARS1):c.1910dup (p.Asp637fs)
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser)
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)
NM_004990.4(MARS1):c.1967+15G>T
NM_004990.4(MARS1):c.1967+3A>G rs183042263
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys) rs2140036938
NM_004990.4(MARS1):c.200+4A>G rs774241581
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
NM_004990.4(MARS1):c.201-14C>G
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu) rs145672326
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2039G>A (p.Arg680His)
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr)
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr)
NM_004990.4(MARS1):c.2099+6dup
NM_004990.4(MARS1):c.2100-1G>A
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
NM_004990.4(MARS1):c.2114dup (p.Leu705fs) rs777324495
NM_004990.4(MARS1):c.2117G>A (p.Arg706His)
NM_004990.4(MARS1):c.212del (p.Leu71fs) rs751080704
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro)
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val)
NM_004990.4(MARS1):c.2161G>A (p.Val721Met)
NM_004990.4(MARS1):c.2204+3A>C rs752787448
NM_004990.4(MARS1):c.2204+3A>G
NM_004990.4(MARS1):c.2204+4_2204+7del rs1327486572
NM_004990.4(MARS1):c.2204+6T>C
NM_004990.4(MARS1):c.2204+9G>A
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp) rs139536122
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala) rs2140037579
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys)
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met)
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr)
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) rs1594836361
NM_004990.4(MARS1):c.2286G>A (p.Thr762=)
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr) rs1565652335
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter) rs1248367484
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr)
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr)
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
NM_004990.4(MARS1):c.2391+1G>C
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter)
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly) rs368028253
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser)
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala)
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)
NM_004990.4(MARS1):c.2504del (p.Thr835fs)
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg) rs1159370358
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn)
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys)
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala)
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)
NM_004990.4(MARS1):c.2556+1G>A rs1877828714
NM_004990.4(MARS1):c.2556+3A>G
NM_004990.4(MARS1):c.2556+3A>T
NM_004990.4(MARS1):c.2556+4T>A
NM_004990.4(MARS1):c.2556+5G>A
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg)
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) rs1027516483
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn) rs1181373475
NM_004990.4(MARS1):c.2685dup (p.Gly896fs)
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn)
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del) rs1409128703
NM_004990.4(MARS1):c.279+5G>A
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)
NM_004990.4(MARS1):c.311T>A (p.Val104Glu)
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
NM_004990.4(MARS1):c.337G>T (p.Val113Phe)
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser) rs2139997870
NM_004990.4(MARS1):c.349G>A (p.Val117Met)
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly) rs1046282755
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) rs1875583589
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr) rs2139998020
NM_004990.4(MARS1):c.414+1G>T
NM_004990.4(MARS1):c.415-5C>G rs747351446
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)
NM_004990.4(MARS1):c.427C>G (p.Leu143Val)
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)
NM_004990.4(MARS1):c.509A>G (p.His170Arg)
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly) rs142331178
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)
NM_004990.4(MARS1):c.590C>T (p.Ala197Val)
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp) rs1875839232
NM_004990.4(MARS1):c.659del (p.Pro220fs) rs777370844
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys) rs1249955185
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu)
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly) rs2139993470
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln) rs1247809884
NM_004990.4(MARS1):c.692A>T (p.Glu231Val) rs755863042
NM_004990.4(MARS1):c.703A>G (p.Met235Val)
NM_004990.4(MARS1):c.709G>A (p.Val237Ile)
NM_004990.4(MARS1):c.712dup (p.Thr238fs)
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)
NM_004990.4(MARS1):c.770+18_770+19del
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
NM_004990.4(MARS1):c.804C>G (p.Ile268Met) rs1421551773
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
NM_004990.4(MARS1):c.874G>C (p.Asp292His)
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)
NM_004990.4(MARS1):c.887+5A>G rs1565643835
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser) rs1876748489
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
NM_004990.4(MARS1):c.896G>A (p.Arg299His)
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)
NM_004990.4(MARS1):c.902G>A (p.Arg301His)
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) rs145260922
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro) rs747834192
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)
NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn) rs973190345
NM_006158.5(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.5(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)
NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)
NM_006158.5(NEFL):c.1054A>C (p.Asn352His) rs748970912
NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)
NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)
NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)
NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln) rs758969477
NM_006158.5(NEFL):c.1124T>A (p.Leu375His)
NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)
NM_006158.5(NEFL):c.1128C>A (p.Leu376=)
NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser) rs775218507
NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)
NM_006158.5(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)
NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser) rs2117252327
NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=) rs1586126978
NM_006158.5(NEFL):c.1170-3C>T rs2117251902
NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) rs2117251897
NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys) rs2117251886
NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly) rs2117251875
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) rs372997416
NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs) rs2117251668
NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)
NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe) rs1803002899
NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)
NM_006158.5(NEFL):c.1284G>A (p.Gln428=) rs931901985
NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys) rs559215942
NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu) rs199775873
NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del) rs1554497354
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys) rs1461577846
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)
NM_006158.5(NEFL):c.1332del (p.Ser445fs)
NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg) rs2117251585
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp) rs1027193109
NM_006158.5(NEFL):c.134C>T (p.Ala45Val)
NM_006158.5(NEFL):c.1356C>G (p.Ile452Met) rs375151853
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr) rs372034119
NM_006158.5(NEFL):c.1379C>T (p.Ala460Val) rs2117251550
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
NM_006158.5(NEFL):c.1412C>A (p.Pro471His) rs756696405
NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)
NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) rs1586126391
NM_006158.5(NEFL):c.1441_1443del (p.Lys481del) rs756788675
NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp) rs968491415
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter) rs558065942
NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)
NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu) rs1554497315
NM_006158.5(NEFL):c.1489+6A>T rs1802996927
NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)
NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp) rs2117250817
NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del) rs570816238
NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup) rs570816238
NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup) rs777344234
NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg) rs1586126037
NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del) rs758240691
NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser) rs2117250713
NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)
NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)
NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu) rs1157404996
NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn) rs1802987647
NM_006158.5(NEFL):c.193A>G (p.Met65Val)
NM_006158.5(NEFL):c.194T>C (p.Met65Thr)
NM_006158.5(NEFL):c.194T>G (p.Met65Arg)
NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr) rs748849867
NM_006158.5(NEFL):c.220A>T (p.Ser74Cys) rs1803055066
NM_006158.5(NEFL):c.229G>C (p.Ala77Pro)
NM_006158.5(NEFL):c.22C>G (p.Pro8Ala) rs886043551
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)
NM_006158.5(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly) rs1803053844
NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys) rs1586129246
NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del)
NM_006158.5(NEFL):c.281T>A (p.Leu94His)
NM_006158.5(NEFL):c.287A>T (p.Asp96Val)
NM_006158.5(NEFL):c.289C>A (p.Leu97Ile) rs587777888
NM_006158.5(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro) rs1803053378
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg) rs1803053378
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
NM_006158.5(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)
NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) rs1323026981
NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)
NM_006158.5(NEFL):c.331C>G (p.Leu111Val)
NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) rs2117255452
NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)
NM_006158.5(NEFL):c.377G>A (p.Arg126His) rs1364995930
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)
NM_006158.5(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) rs776351925
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg) rs776351925
NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)
NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)
NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) rs1437779457
NM_006158.5(NEFL):c.486C>T (p.Gly162=) rs1803048212
NM_006158.5(NEFL):c.491G>A (p.Arg164His)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys) rs1323700017
NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)
NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
NM_006158.5(NEFL):c.509C>A (p.Thr170Asn) rs541360328
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile) rs541360328
NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)
NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)
NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)
NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)
NM_006158.5(NEFL):c.55G>A (p.Val19Met) rs1424618809
NM_006158.5(NEFL):c.569G>T (p.Gly190Val) rs1803044984
NM_006158.5(NEFL):c.572G>A (p.Arg191Gln) rs755170407
NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)
NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)
NM_006158.5(NEFL):c.58G>A (p.Glu20Lys) rs779821785
NM_006158.5(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.5(NEFL):c.596C>T (p.Ala199Val)
NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)
NM_006158.5(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.5(NEFL):c.603G>T (p.Glu201Asp) rs1217355732
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
NM_006158.5(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.5(NEFL):c.614C>T (p.Ala205Val) rs556617527
NM_006158.5(NEFL):c.616C>G (p.Arg206Gly) rs771763817
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro) rs868855966
NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) rs2117255966
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
NM_006158.5(NEFL):c.649A>C (p.Met217Leu)
NM_006158.5(NEFL):c.64C>G (p.Pro22Ala) rs28928910
NM_006158.5(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.5(NEFL):c.65C>T (p.Pro22Leu) rs267607538
NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)
NM_006158.5(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.5(NEFL):c.67C>G (p.Arg23Gly) rs772092001
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp) rs772092001
NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)
NM_006158.5(NEFL):c.682G>C (p.Glu228Gln) rs895511770
NM_006158.5(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.5(NEFL):c.68G>C (p.Arg23Pro) rs745353207
NM_006158.5(NEFL):c.705G>A (p.Gln235=)
NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe) rs534615840
NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)
NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)
NM_006158.5(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)
NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)
NM_006158.5(NEFL):c.767C>T (p.Ala256Val) rs775775697
NM_006158.5(NEFL):c.769G>A (p.Ala257Thr) rs1803039812
NM_006158.5(NEFL):c.789G>A (p.Ala263=)
NM_006158.5(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.5(NEFL):c.797A>T (p.Glu266Val) rs1367433683
NM_006158.5(NEFL):c.79T>C (p.Ser27Pro) rs2117255911
NM_006158.5(NEFL):c.818T>C (p.Met273Thr)
NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) rs2117254497
NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)
NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn) rs1803037186
NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)
NM_006158.5(NEFL):c.868A>G (p.Ser290Gly) rs777110668
NM_006158.5(NEFL):c.86T>C (p.Val29Ala) rs372748927
NM_006158.5(NEFL):c.870C>G (p.Ser290Arg) rs2117254420
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
NM_006158.5(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys) rs946938553
NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)
NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del) rs765310700
NM_006158.5(NEFL):c.925C>T (p.Arg309Cys) rs1803035476
NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)
NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)
NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)
NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)
NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)
NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)
NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)
NM_006158.5(NEFL):c.973A>G (p.Met325Val) rs2117254246
NM_006158.5(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.5(NEFL):c.985C>G (p.Leu329Val)
NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.5(NEFL):c.997C>G (p.Leu333Val)
NM_006158.5(NEFL):c.998T>C (p.Leu333Pro) rs60930717
NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp) rs1172676336
NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser) rs920906527
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn) rs1954622196
NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg) rs1249375553
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp) rs1954622275
NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg) rs2136079909
NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)
NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)
NM_014365.3(HSPB8):c.149A>T (p.Asp50Val) rs374254847
NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu) rs2136079920
NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs) rs1954622635
NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)
NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile) rs771054805
NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.3(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)
NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)
NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)
NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met) rs767880226
NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.3(HSPB8):c.266C>T (p.Pro89Leu) rs35909818
NM_014365.3(HSPB8):c.266del (p.Pro89fs)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)
NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)
NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)
NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)
NM_014365.3(HSPB8):c.32A>C (p.His11Pro)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer) rs1954624384
NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)
NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr) rs1427416227
NM_014365.3(HSPB8):c.374A>G (p.His125Arg) rs138733926
NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)
NM_014365.3(HSPB8):c.421A>C (p.Lys141Gln) rs104894351
NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)
NM_014365.3(HSPB8):c.432-10T>C
NM_014365.3(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys) rs1954619848
NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser) rs2136086280
NM_014365.3(HSPB8):c.461T>C (p.Val154Ala) rs1954726459
NM_014365.3(HSPB8):c.472C>T (p.Leu158Phe) rs144662422
NM_014365.3(HSPB8):c.502G>A (p.Ala168Thr) rs1592932884
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu) rs1592932892
NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)
NM_014365.3(HSPB8):c.50G>A (p.Arg17His) rs146997263
NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)
NM_014365.3(HSPB8):c.510G>C (p.Gln170His)
NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)
NM_014365.3(HSPB8):c.515del (p.Pro172fs) rs1954727159
NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu) rs757849883
NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala) rs1592932914
NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)
NM_014365.3(HSPB8):c.541A>T (p.Ser181Cys) rs760688825
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe) rs1954727649
NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser) rs1829801528
NM_014365.3(HSPB8):c.563dup (p.Asp189fs) rs2136086393
NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)
NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
NM_014365.3(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)
NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser) rs2136079863
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser) rs748320300
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys) rs748320300
NM_014365.3(HSPB8):c.86G>A (p.Arg29His)
NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)
NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)
NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014874.4(MFN2):c.1003A>G (p.Met335Val) rs1557527886
NM_014874.4(MFN2):c.1024G>C (p.Glu342Gln) rs1557527906
NM_014874.4(MFN2):c.1039-12T>C
NM_014874.4(MFN2):c.1042T>C (p.Cys348Arg) rs1639195979
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.1090C>A (p.Arg364=) rs119103265
NM_014874.4(MFN2):c.1094C>T (p.Ala365Val) rs868500000
NM_014874.4(MFN2):c.10C>T (p.Leu4Phe)
NM_014874.4(MFN2):c.1102A>G (p.Ile368Val)
NM_014874.4(MFN2):c.1121T>G (p.Leu374Arg)
NM_014874.4(MFN2):c.1136T>C (p.Leu379Pro) rs1064797107
NM_014874.4(MFN2):c.113A>T (p.Lys38Met)
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.1150C>G (p.Arg384Gly)
NM_014874.4(MFN2):c.1151G>A (p.Arg384Gln) rs565042936
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.118A>C (p.Asn40His) rs1026123951
NM_014874.4(MFN2):c.118A>G (p.Asn40Asp) rs1026123951
NM_014874.4(MFN2):c.1210A>G (p.Ile404Val)
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.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.1252C>G (p.Arg418Gly)
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+4A>G rs1162804216
NM_014874.4(MFN2):c.1287+6A>G rs778274550
NM_014874.4(MFN2):c.1288G>A (p.Val430Met)
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.1319G>A (p.Arg440His)
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.1331T>C (p.Leu444Pro) rs1569861490
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.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.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1392+3G>A
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.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.1489A>G (p.Met497Val) rs2100850292
NM_014874.4(MFN2):c.1493T>C (p.Ile498Thr)
NM_014874.4(MFN2):c.1495+3_1495+6dup rs2100850333
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.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.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.1588T>C (p.Cys530Arg)
NM_014874.4(MFN2):c.1598T>C (p.Leu533Pro)
NM_014874.4(MFN2):c.1601G>A (p.Cys534Tyr)
NM_014874.4(MFN2):c.1612C>G (p.Gln538Glu)
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.1664G>C (p.Arg555Thr)
NM_014874.4(MFN2):c.1682A>C (p.Asn561Thr) rs778719488
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+5G>A rs1639389952
NM_014874.4(MFN2):c.1716+6C>G rs1569866132
NM_014874.4(MFN2):c.1717G>A (p.Val573Ile)
NM_014874.4(MFN2):c.1717G>C (p.Val573Leu)
NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys) rs786204244
NM_014874.4(MFN2):c.1727C>T (p.Pro576Leu)
NM_014874.4(MFN2):c.1739C>T (p.Thr580Met)
NM_014874.4(MFN2):c.175+5G>A
NM_014874.4(MFN2):c.175+6G>T rs762489839
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.176-3C>T rs975369655
NM_014874.4(MFN2):c.1763C>T (p.Pro588Leu) rs1639428648
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.1807A>G (p.Met603Val)
NM_014874.4(MFN2):c.1810G>A (p.Val604Ile) rs1553145384
NM_014874.4(MFN2):c.1823C>T (p.Ala608Val) rs1060501924
NM_014874.4(MFN2):c.1834T>A (p.Ser612Thr) rs2100856360
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.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+5G>A
NM_014874.4(MFN2):c.1879A>G (p.Lys627Glu) rs1163976600
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.1921T>G (p.Tyr641Asp) rs1569870930
NM_014874.4(MFN2):c.1927CTC[1] (p.Leu644del) rs2100858186
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.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.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.1988G>A (p.Arg663His) rs766735605
NM_014874.4(MFN2):c.1988G>C (p.Arg663Pro) rs766735605
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.2042G>C (p.Gly681Ala)
NM_014874.4(MFN2):c.2055CCA[1] (p.His686del)
NM_014874.4(MFN2):c.2068C>G (p.Gln690Glu) rs1218249174
NM_014874.4(MFN2):c.2069+4A>G rs2100858892
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.211A>G (p.Thr71Ala) rs548809273
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
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.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.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.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.2205G>A (p.Arg735=) rs757975290
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg) rs1557539004
NM_014874.4(MFN2):c.2219G>T (p.Trp740Leu)
NM_014874.4(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
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.2232G>T (p.Glu744Asp) rs756693072
NM_014874.4(MFN2):c.2234T>G (p.Leu745Arg) rs1553146569
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.2249A>C (p.His750Pro) rs1569890311
NM_014874.4(MFN2):c.2249A>G (p.His750Arg)
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.2270G>C (p.Arg757Thr)
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.248C>G (p.Ser83Cys) rs372451582
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.271G>T (p.Val91Leu) rs1557519001
NM_014874.4(MFN2):c.284G>A (p.Arg95Lys) rs1638740596
NM_014874.4(MFN2):c.288C>A (p.His96Gln) rs779756767
NM_014874.4(MFN2):c.288C>G (p.His96Gln)
NM_014874.4(MFN2):c.29C>G (p.Ser10Cys) rs757982521
NM_014874.4(MFN2):c.307G>A (p.Gly103Ser)
NM_014874.4(MFN2):c.312-3T>A
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.332C>T (p.Thr111Ile) rs1638898105
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.373G>A (p.Gly125Arg) rs1569829787
NM_014874.4(MFN2):c.374G>A (p.Gly125Glu) rs1638900244
NM_014874.4(MFN2):c.382C>A (p.His128Asn) 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.406G>T (p.Val136Leu)
NM_014874.4(MFN2):c.411G>C (p.Glu137Asp) rs2100822641
NM_014874.4(MFN2):c.452C>T (p.Ser151Leu) rs2100822731
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.469G>A (p.Ala157Thr)
NM_014874.4(MFN2):c.469_470delinsTT (p.Ala157Phe)
NM_014874.4(MFN2):c.475-5_475-2dup
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.508G>T (p.Asp170Tyr)
NM_014874.4(MFN2):c.518T>C (p.Leu173Pro) rs2100826229
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
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.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.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.624G>T (p.Glu208Asp) rs1162977959
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg) rs1639043428
NM_014874.4(MFN2):c.64G>T (p.Ala22Ser) rs1178355950
NM_014874.4(MFN2):c.657T>G (p.Asp219Glu) rs878854989
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.676G>A (p.Val226Met) rs1569842610
NM_014874.4(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.4(MFN2):c.690G>C (p.Glu230Asp) rs1569842685
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.703C>G (p.Gln235Glu) rs879254210
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.721T>C (p.Phe241Leu)
NM_014874.4(MFN2):c.731T>C (p.Val244Ala) rs1060501921
NM_014874.4(MFN2):c.738G>C (p.Glu246Asp) rs2100832455
NM_014874.4(MFN2):c.751C>T (p.Pro251Ser) rs28940295
NM_014874.4(MFN2):c.764T>C (p.Ile255Thr)
NM_014874.4(MFN2):c.773A>G (p.Asn258Ser) rs1639058625
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+5G>A
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.821GGC[3] (p.Arg275_Gln276insArg)
NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) rs1553143791
NM_014874.4(MFN2):c.832A>G (p.Met278Val)
NM_014874.4(MFN2):c.834G>A (p.Met278Ile) rs1639167341
NM_014874.4(MFN2):c.857T>G (p.Val286Gly)
NM_014874.4(MFN2):c.864G>C (p.Glu288Asp) rs1569851796
NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)
NM_014874.4(MFN2):c.880C>G (p.Arg294Gly) 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.910G>C (p.Val304Leu) rs2100839352
NM_014874.4(MFN2):c.916G>A (p.Ala306Thr) rs1553143847
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.925G>A (p.Val309Met)
NM_014874.4(MFN2):c.931A>G (p.Asn311Asp)
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+5T>G
NM_014874.4(MFN2):c.970+6G>A
NM_014874.4(MFN2):c.971-10A>G
NM_014874.4(MFN2):c.971-8C>T rs780000309
NM_014874.4(MFN2):c.976G>A (p.Ala326Thr) rs1324564667
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
NM_014874.4(MFN2):c.997G>A (p.Val333Met) rs1009733171
NM_015271.5(TRIM2):c.1002del (p.Gly334_Leu335insTer)
NM_015271.5(TRIM2):c.1021_1040del (p.Asn341fs)
NM_015271.5(TRIM2):c.106C>A (p.Pro36Thr) rs769878993
NM_015271.5(TRIM2):c.1073C>A (p.Thr358Lys)
NM_015271.5(TRIM2):c.1080G>C (p.Glu360Asp)
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp) rs768541205
NM_015271.5(TRIM2):c.1113G>C (p.Met371Ile)
NM_015271.5(TRIM2):c.1114T>A (p.Ser372Thr)
NM_015271.5(TRIM2):c.111T>A (p.Ser37Arg)
NM_015271.5(TRIM2):c.1141G>C (p.Asp381His)
NM_015271.5(TRIM2):c.1162G>A (p.Gly388Ser)
NM_015271.5(TRIM2):c.1196C>A (p.Pro399His) rs781013555
NM_015271.5(TRIM2):c.1196C>G (p.Pro399Arg) rs781013555
NM_015271.5(TRIM2):c.1198G>A (p.Asp400Asn) rs1341638291
NM_015271.5(TRIM2):c.1199A>G (p.Asp400Gly)
NM_015271.5(TRIM2):c.1211_1212delinsGC (p.Ala404Gly) rs2150144886
NM_015271.5(TRIM2):c.1217G>A (p.Gly406Glu)
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser) rs889090777
NM_015271.5(TRIM2):c.1235A>T (p.Lys412Met)
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala) rs111861590
NM_015271.5(TRIM2):c.125A>C (p.Gln42Pro)
NM_015271.5(TRIM2):c.1289T>G (p.Leu430Arg)
NM_015271.5(TRIM2):c.1298G>A (p.Arg433Lys)
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln) rs1762656339
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu) rs1579436975
NM_015271.5(TRIM2):c.1346T>C (p.Ile449Thr) rs748092770
NM_015271.5(TRIM2):c.1354G>C (p.Ala452Pro)
NM_015271.5(TRIM2):c.1390C>T (p.Arg464Cys)
NM_015271.5(TRIM2):c.1402C>T (p.Pro468Ser)
NM_015271.5(TRIM2):c.1403C>T (p.Pro468Leu)
NM_015271.5(TRIM2):c.1410C>A (p.Ser470Arg)
NM_015271.5(TRIM2):c.1443del (p.Ala482fs) rs2150145898
NM_015271.5(TRIM2):c.1444G>A (p.Ala482Thr)
NM_015271.5(TRIM2):c.1444G>T (p.Ala482Ser)
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly) rs1762681975
NM_015271.5(TRIM2):c.1453T>C (p.Tyr485His)
NM_015271.5(TRIM2):c.1459A>G (p.Thr487Ala)
NM_015271.5(TRIM2):c.1500C>G (p.Ile500Met)
NM_015271.5(TRIM2):c.1505G>A (p.Arg502Gln)
NM_015271.5(TRIM2):c.1510+1G>C
NM_015271.5(TRIM2):c.1510+3A>G
NM_015271.5(TRIM2):c.1525A>C (p.Asn509His)
NM_015271.5(TRIM2):c.1534G>C (p.Glu512Gln)
NM_015271.5(TRIM2):c.1565C>G (p.Ser522Cys) rs1767402219
NM_015271.5(TRIM2):c.1591G>A (p.Asp531Asn) rs2149526920
NM_015271.5(TRIM2):c.1603C>A (p.Gln535Lys)
NM_015271.5(TRIM2):c.1661G>A (p.Gly554Glu)
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys) rs2149528038
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His) rs755651013
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln) rs1418080739
NM_015271.5(TRIM2):c.167G>T (p.Arg56Leu)
NM_015271.5(TRIM2):c.1712G>T (p.Ser571Ile)
NM_015271.5(TRIM2):c.1720A>G (p.Ile574Val) rs2149528266
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=) rs759415596
NM_015271.5(TRIM2):c.1768G>A (p.Asp590Asn)
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val) rs780090814
NM_015271.5(TRIM2):c.1834C>A (p.Arg612Ser)
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser) rs1579720652
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val) rs1561013892
NM_015271.5(TRIM2):c.1871G>T (p.Cys624Phe)
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) rs759524701
NM_015271.5(TRIM2):c.1889A>G (p.Gln630Arg)
NM_015271.5(TRIM2):c.1912A>G (p.Arg638Gly)
NM_015271.5(TRIM2):c.1924C>T (p.Arg642Ter)
NM_015271.5(TRIM2):c.1925G>A (p.Arg642Gln)
NM_015271.5(TRIM2):c.1941G>T (p.Arg647Ser)
NM_015271.5(TRIM2):c.1951+20G>A
NM_015271.5(TRIM2):c.1952-3C>T
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) rs1554002777
NM_015271.5(TRIM2):c.1967C>A (p.Ala656Asp)
NM_015271.5(TRIM2):c.2006dup (p.His669fs) rs2149564124
NM_015271.5(TRIM2):c.2022+6A>G
NM_015271.5(TRIM2):c.2033A>G (p.Gln678Arg) rs2149583488
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile) rs1579783522
NM_015271.5(TRIM2):c.2096C>T (p.Pro699Leu)
NM_015271.5(TRIM2):c.2104G>A (p.Val702Ile)
NM_015271.5(TRIM2):c.211G>C (p.Glu71Gln) rs2150035596
NM_015271.5(TRIM2):c.2130C>G (p.Ile710Met)
NM_015271.5(TRIM2):c.2251G>A (p.Asp751Asn)
NM_015271.5(TRIM2):c.2303G>A (p.Arg768Gln)
NM_015271.5(TRIM2):c.2308_2311del (p.Leu770fs) rs2149608145
NM_015271.5(TRIM2):c.251C>A (p.Thr84Asn)
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.262C>T (p.Pro88Ser)
NM_015271.5(TRIM2):c.272G>T (p.Arg91Leu) rs1757929207
NM_015271.5(TRIM2):c.278C>A (p.Thr93Asn)
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val) rs1579254686
NM_015271.5(TRIM2):c.307G>A (p.Ala103Thr)
NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser) rs1757940364
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val) rs1435917917
NM_015271.5(TRIM2):c.358A>G (p.Thr120Ala)
NM_015271.5(TRIM2):c.373G>A (p.Ala125Thr)
NM_015271.5(TRIM2):c.377A>G (p.Glu126Gly)
NM_015271.5(TRIM2):c.404_405delinsTG (p.Thr135Met)
NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro) rs774018426
NM_015271.5(TRIM2):c.416C>T (p.Ala139Val) rs1012146710
NM_015271.5(TRIM2):c.425C>G (p.Pro142Arg)
NM_015271.5(TRIM2):c.425C>T (p.Pro142Leu)
NM_015271.5(TRIM2):c.447T>A (p.Asp149Glu)
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn) rs1579407719
NM_015271.5(TRIM2):c.496C>T (p.Arg166Trp)
NM_015271.5(TRIM2):c.511G>A (p.Gly171Arg) rs375213888
NM_015271.5(TRIM2):c.511G>C (p.Gly171Arg)
NM_015271.5(TRIM2):c.511G>T (p.Gly171Trp)
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) rs1553992552
NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser) rs200706275
NM_015271.5(TRIM2):c.529C>G (p.Pro177Ala) rs974200179
NM_015271.5(TRIM2):c.550G>A (p.Val184Met) rs1579408437
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg) rs1579408472
NM_015271.5(TRIM2):c.569C>G (p.Ala190Gly)
NM_015271.5(TRIM2):c.582C>A (p.Val194=)
NM_015271.5(TRIM2):c.592G>T (p.Ala198Ser)
NM_015271.5(TRIM2):c.605+3G>A
NM_015271.5(TRIM2):c.633G>A (p.Gln211=)
NM_015271.5(TRIM2):c.636C>A (p.Phe212Leu)
NM_015271.5(TRIM2):c.644A>G (p.Glu215Gly)
NM_015271.5(TRIM2):c.662C>T (p.Thr221Ile) rs2150138936
NM_015271.5(TRIM2):c.673G>A (p.Ala225Thr)
NM_015271.5(TRIM2):c.673G>T (p.Ala225Ser) rs775717184
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr) rs1560963959
NM_015271.5(TRIM2):c.701C>T (p.Thr234Ile)
NM_015271.5(TRIM2):c.722C>A (p.Thr241Asn)
NM_015271.5(TRIM2):c.726A>C (p.Leu242Phe)
NM_015271.5(TRIM2):c.731T>C (p.Val244Ala)
NM_015271.5(TRIM2):c.734G>A (p.Arg245His)
NM_015271.5(TRIM2):c.745C>G (p.Leu249Val)
NM_015271.5(TRIM2):c.794A>G (p.Gln265Arg)
NM_015271.5(TRIM2):c.796T>C (p.Ser266Pro)
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) rs746386202
NM_015271.5(TRIM2):c.805G>C (p.Asp269His)
NM_015271.5(TRIM2):c.822G>T (p.Gly274=) rs747440517
NM_015271.5(TRIM2):c.830G>A (p.Ser277Asn) rs768739196
NM_015271.5(TRIM2):c.832A>G (p.Ile278Val)
NM_015271.5(TRIM2):c.842G>A (p.Cys281Tyr)
NM_015271.5(TRIM2):c.85G>T (p.Ala29Ser)
NM_015271.5(TRIM2):c.889G>A (p.Val297Ile)
NM_015271.5(TRIM2):c.912G>A (p.Met304Ile) rs1433319336
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn) rs1579432032
NM_015271.5(TRIM2):c.937G>A (p.Asp313Asn)
NM_015271.5(TRIM2):c.95G>A (p.Gly32Asp)
NM_015271.5(TRIM2):c.970G>A (p.Asp324Asn)
NM_021625.5(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del) rs1592838554
NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu) rs1890576440
NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)
NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)
NM_021625.5(TRPV4):c.1130_1152+16del rs2136516895
NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)
NM_021625.5(TRPV4):c.1136A>G (p.Lys379Arg) rs1890568784
NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)
NM_021625.5(TRPV4):c.1159C>G (p.Gln387Glu) rs1890422889
NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)
NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln)
NM_021625.5(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro) rs1890419368
NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp) rs1891750610
NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)
NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr) rs1890416175
NM_021625.5(TRPV4):c.1273G>T (p.Asp425Tyr) rs1890415214
NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu) rs1890414210
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val) rs2136502657
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val) rs1890412020
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
NM_021625.5(TRPV4):c.1315T>A (p.Tyr439Asn) rs762416745
NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)
NM_021625.5(TRPV4):c.1332+1G>A
NM_021625.5(TRPV4):c.1333-3T>C
NM_021625.5(TRPV4):c.1333-4_1333-3del
NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)
NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.1337G>C (p.Arg446Pro)
NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)
NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)
NM_021625.5(TRPV4):c.1391G>A (p.Arg464His) rs758206734
NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)
NM_021625.5(TRPV4):c.1393A>G (p.Lys465Glu) rs2136484635
NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)
NM_021625.5(TRPV4):c.1421A>T (p.Asn474Ile) rs150461804
NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala)
NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)
NM_021625.5(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.5(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.5(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.5(TRPV4):c.1457C>A (p.Thr486Asn) rs2136483803
NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)
NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)
NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)
NM_021625.5(TRPV4):c.1491+5G>A rs375360273
NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)
NM_021625.5(TRPV4):c.1492-1_1494del rs2136480490
NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)
NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)
NM_021625.5(TRPV4):c.1505A>T (p.Tyr502Phe) rs1592830087
NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)
NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)
NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)
NM_021625.5(TRPV4):c.1552C>T (p.Leu518Phe) rs2136479469
NM_021625.5(TRPV4):c.1559C>A (p.Thr520Asn) rs2136479390
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del) rs1393630996
NM_021625.5(TRPV4):c.1584+1G>C rs775922797
NM_021625.5(TRPV4):c.1584+5G>C
NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)
NM_021625.5(TRPV4):c.1601T>A (p.Met534Lys) rs775011025
NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)
NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly) rs753813565
NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val)
NM_021625.5(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)
NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro) rs2136474950
NM_021625.5(TRPV4):c.1658+1G>A
NM_021625.5(TRPV4):c.1659-1G>A
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del) rs1890129676
NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu) rs767169716
NM_021625.5(TRPV4):c.1696C>T (p.Leu566Phe) rs144583941
NM_021625.5(TRPV4):c.1706C>G (p.Ala569Gly) rs1565864489
NM_021625.5(TRPV4):c.1714G>A (p.Glu572Lys) rs1312427314
NM_021625.5(TRPV4):c.1714G>C (p.Glu572Gln) rs1312427314
NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)
NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.1784G>T (p.Gly595Val) rs2136468285
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.1824+1G>A rs758491211
NM_021625.5(TRPV4):c.1825-10G>A
NM_021625.5(TRPV4):c.1825A>C (p.Ile609Leu) rs2136466571
NM_021625.5(TRPV4):c.1828C>T (p.Leu610Phe) rs2136466528
NM_021625.5(TRPV4):c.1867del (p.Leu623fs) rs1890102629
NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr)
NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser) rs998369017
NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu) rs1411091303
NM_021625.5(TRPV4):c.1925T>A (p.Met642Lys) rs1368161455
NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn) rs1249629161
NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)
NM_021625.5(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.5(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)
NM_021625.5(TRPV4):c.1971C>A (p.Tyr657Ter) rs1951172791
NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly) rs1889846400
NM_021625.5(TRPV4):c.1989C>G (p.Ser663Arg) rs778560334
NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala)
NM_021625.5(TRPV4):c.2000G>A (p.Ser667Asn) rs756867557
NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)
NM_021625.5(TRPV4):c.203G>A (p.Arg68His) rs747215384
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu) rs747215384
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn) rs968378720
NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn) rs1889838365
NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)
NM_021625.5(TRPV4):c.2184G>C (p.Glu728Asp) rs2136440447
NM_021625.5(TRPV4):c.2187C>A (p.Ser729Arg) rs1889832143
NM_021625.5(TRPV4):c.2192A>G (p.His731Arg) rs1463500359
NM_021625.5(TRPV4):c.2209-13_2209-5dup
NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)
NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)
NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)
NM_021625.5(TRPV4):c.2211G>C (p.Trp737Cys) rs1035249096
NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe)
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu) rs1889714537
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val) rs746363121
NM_021625.5(TRPV4):c.2271del (p.Ser758fs) rs1889712036
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.5(TRPV4):c.227G>A (p.Arg76His)
NM_021625.5(TRPV4):c.2290G>A (p.Val764Met) rs750416252
NM_021625.5(TRPV4):c.2290G>T (p.Val764Leu) rs750416252
NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)
NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)
NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser)
NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)
NM_021625.5(TRPV4):c.2315C>T (p.Pro772Leu) rs1889708727
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)
NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)
NM_021625.5(TRPV4):c.2337-13T>A
NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)
NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu)
NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp) rs1451788224
NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)
NM_021625.5(TRPV4):c.2395C>A (p.Pro799Thr) rs267607147
NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)
NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu) rs2136660243
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp) rs2136417276
NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser) rs2136660218
NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)
NM_021625.5(TRPV4):c.2446C>G (p.Arg816Gly) rs748742151
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)
NM_021625.5(TRPV4):c.2458+4A>C rs2136416943
NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg) rs767079858
NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)
NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)
NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu) rs1889497846
NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)
NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)
NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn) rs908406423
NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)
NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)
NM_021625.5(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr) rs2136412583
NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys) rs571407723
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del) rs1555204381
NM_021625.5(TRPV4):c.2560G>C (p.Asp854His) rs368963822
NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)
NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys) rs966904634
NM_021625.5(TRPV4):c.2595del (p.Thr866fs)
NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)
NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser) rs138396764
NM_021625.5(TRPV4):c.283G>A (p.Val95Met) rs1891735247
NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)
NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)
NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)
NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr) rs2136659447
NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly) rs1131691532
NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser) rs1416476726
NM_021625.5(TRPV4):c.352dup (p.Ser118fs)
NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)
NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)
NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu) rs1421114267
NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)
NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe) rs1367833016
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.389A>T (p.Lys130Met) rs1891283509
NM_021625.5(TRPV4):c.413C>A (p.Pro138His)
NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)
NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser) rs201642486
NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter) rs1032750471
NM_021625.5(TRPV4):c.43G>A (p.Val15Met)
NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile) rs1376333910
NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
NM_021625.5(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)
NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe) rs2136607765
NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser) rs2136607717
NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)
NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.5(TRPV4):c.548A>T (p.Glu183Val) rs2136607376
NM_021625.5(TRPV4):c.573dup (p.Lys192fs) rs1890915679
NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr) rs1890914888
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr) rs761966856
NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)
NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.5(TRPV4):c.604C>G (p.Leu202Val) rs1890913335
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu) rs373108373
NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)
NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)
NM_021625.5(TRPV4):c.634G>A (p.Val212Met)
NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)
NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)
NM_021625.5(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.5(TRPV4):c.673del (p.Glu225fs) rs1191019525
NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu) rs1890901106
NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
NM_021625.5(TRPV4):c.713-2dup rs760776284
NM_021625.5(TRPV4):c.713-7C>G rs1890730627
NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)
NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile) rs750340562
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr) rs761829753
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr) rs937032628
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg) rs1890725320
NM_021625.5(TRPV4):c.757T>C (p.Tyr253His) rs973315587
NM_021625.5(TRPV4):c.761_763del (p.Val254del) rs1890724382
NM_021625.5(TRPV4):c.762G>A (p.Val254=) rs2136537855
NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)
NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)
NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)
NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter) rs1592842140
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp) rs529115496
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)
NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)
NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)
NM_021625.5(TRPV4):c.895dup (p.His299fs)
NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)
NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)
NM_021625.5(TRPV4):c.925C>T (p.His309Tyr) rs1184985507
NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.5(TRPV4):c.949del (p.Gln317fs)
NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)
NM_021625.5(TRPV4):c.978T>A (p.His326Gln) rs1890587000
NM_021625.5(TRPV4):c.980C>T (p.Ala327Val) rs1179420073
NM_021625.5(TRPV4):c.985G>A (p.Val329Met) rs2136519623
NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr) rs2136519490
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe) rs1600325791
NM_030973.4(MED25):c.102del (p.Leu35fs) rs2073953986
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro) rs2123880302
NM_030973.4(MED25):c.1068G>A (p.Leu356=) rs2074050942
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.1102-13T>G
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.1150C>G (p.Leu384Val) rs1248219304
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg) rs1433808506
NM_030973.4(MED25):c.1179G>C (p.Gln393His) rs951202638
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.1230+5G>C rs2074057180
NM_030973.4(MED25):c.1230+6G>A rs2074057196
NM_030973.4(MED25):c.1231-3C>T
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.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+1G>A
NM_030973.4(MED25):c.1316+8A>G
NM_030973.4(MED25):c.1350G>A (p.Met450Ile) rs1568623987
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
NM_030973.4(MED25):c.1374G>A (p.Leu458=) rs2074062447
NM_030973.4(MED25):c.1391del (p.Leu464fs)
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.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.1483-5C>G
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser) rs2074084894
NM_030973.4(MED25):c.1504del (p.His502fs) rs2123886765
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer) rs775019484
NM_030973.4(MED25):c.1526G>A (p.Arg509His) rs1156431468
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.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.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.1693C>T (p.Pro565Ser)
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs) rs2074089681
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro) rs2123887728
NM_030973.4(MED25):c.170T>C (p.Phe57Ser) rs2073956256
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
NM_030973.4(MED25):c.1727C>T (p.Ala576Val) rs193291405
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe)
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.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.1812GCCCCA[3] (p.605PQ[3]) rs2074092563
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr) rs2074092949
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.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.189dup (p.Thr64fs)
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu) rs764747321
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.1951C>T (p.Leu651Phe) rs2123888587
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg) rs878855132
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser) rs1051416581
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.2026C>A (p.Pro676Thr) rs1263091655
NM_030973.4(MED25):c.2028_2030del (p.Ala677del) rs1600331974
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
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.2095C>G (p.Pro699Ala) rs770600111
NM_030973.4(MED25):c.20G>T (p.Gly7Val) rs2123860220
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.2147-3C>T rs1555803003
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp) rs2074102680
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.2200C>T (p.Gln734Ter) rs1600332988
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu) rs2074103858
NM_030973.4(MED25):c.229G>C (p.Ala77Pro) rs1290551836
NM_030973.4(MED25):c.248A>G (p.Gln83Arg) rs2073964192
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
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.28C>T (p.Arg10Cys)
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.343G>A (p.Ala115Thr) rs1433714797
NM_030973.4(MED25):c.367C>A (p.Gln123Lys) rs764968113
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+4A>C
NM_030973.4(MED25):c.405T>C (p.Ile135=) rs2123876614
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
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.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.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.525G>A (p.Glu175=) rs2074035059
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.575G>A (p.Arg192Gln)
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
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.61G>A (p.Val21Met) rs2073953656
NM_030973.4(MED25):c.650C>T (p.Pro217Leu)
NM_030973.4(MED25):c.658A>T (p.Met220Leu) rs905166588
NM_030973.4(MED25):c.693_695del (p.Gly233del)
NM_030973.4(MED25):c.703G>A (p.Ala235Thr) rs2074043556
NM_030973.4(MED25):c.740del (p.Leu247fs) rs2074044055
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
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.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.794T>C (p.Leu265Pro)
NM_030973.4(MED25):c.801dup (p.Val268fs) rs775072432
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
NM_030973.4(MED25):c.809C>T (p.Pro270Leu) rs756463606
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.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.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.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.973G>C (p.Ala325Pro)
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)
NM_170707.4(LMNA):c.1004_1005inv (p.Arg335Pro)
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.1034T>C (p.Met345Thr)
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.1048G>C (p.Ala350Pro) rs267607610
NM_170707.4(LMNA):c.1049C>T (p.Ala350Val)
NM_170707.4(LMNA):c.1051A>G (p.Arg351Gly) rs771623461
NM_170707.4(LMNA):c.1055T>C (p.Met352Thr)
NM_170707.4(LMNA):c.1061A>G (p.Gln354Arg) rs1651565056
NM_170707.4(LMNA):c.1063C>A (p.Gln355Lys)
NM_170707.4(LMNA):c.1063C>G (p.Gln355Glu) rs267607617
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.1086_1088del (p.Leu363del) rs2102887987
NM_170707.4(LMNA):c.1088T>A (p.Leu363Gln)
NM_170707.4(LMNA):c.108G>T (p.Gln36His) rs2102817523
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.1108G>A (p.Asp370Asn) rs2102888147
NM_170707.4(LMNA):c.110A>G (p.Glu37Gly)
NM_170707.4(LMNA):c.1111A>G (p.Met371Val) rs1270221130
NM_170707.4(LMNA):c.1113G>C (p.Met371Ile)
NM_170707.4(LMNA):c.1123G>A (p.Ala375Thr) rs879254162
NM_170707.4(LMNA):c.1124C>A (p.Ala375Asp) rs886042239
NM_170707.4(LMNA):c.1136T>C (p.Leu379Pro)
NM_170707.4(LMNA):c.1141G>A (p.Glu381Lys) rs2102888548
NM_170707.4(LMNA):c.1157+3G>A
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.1160T>A (p.Leu387Gln)
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.1169C>T (p.Ser390Phe)
NM_170707.4(LMNA):c.1181C>T (p.Thr394Ile) rs757887400
NM_170707.4(LMNA):c.118G>A (p.Asp40Asn)
NM_170707.4(LMNA):c.1193G>C (p.Ser398Thr)
NM_170707.4(LMNA):c.1196G>C (p.Arg399Pro)
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1199G>A (p.Gly400Asp) rs1651608363
NM_170707.4(LMNA):c.1220C>A (p.Ser407Tyr)
NM_170707.4(LMNA):c.1225A>C (p.Thr409Pro)
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.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1238G>A (p.Gly413Asp) rs1350031185
NM_170707.4(LMNA):c.1241G>A (p.Ser414Asn)
NM_170707.4(LMNA):c.1244T>C (p.Val415Ala)
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile) rs752367284
NM_170707.4(LMNA):c.1256G>C (p.Arg419Pro) rs777648901
NM_170707.4(LMNA):c.1271C>G (p.Thr424Ser) rs2102890444
NM_170707.4(LMNA):c.1271C>T (p.Thr424Ile)
NM_170707.4(LMNA):c.1274A>G (p.Glu425Gly)
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.1292C>T (p.Ser431Leu) rs1651629810
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.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.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.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.1361T>C (p.Leu454Pro) rs267607638
NM_170707.4(LMNA):c.136A>C (p.Ile46Leu) rs267607615
NM_170707.4(LMNA):c.137T>A (p.Ile46Asn) rs1060502213
NM_170707.4(LMNA):c.1380G>A (p.Glu460=) rs2102891597
NM_170707.4(LMNA):c.1381-6C>A rs371635492
NM_170707.4(LMNA):c.1391T>C (p.Met464Thr) rs1281896947
NM_170707.4(LMNA):c.1397A>C (p.Asn466Thr) rs1159123077
NM_170707.4(LMNA):c.139G>C (p.Asp47His) rs267607608
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.143G>T (p.Arg48Leu) rs1572332235
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.1471G>A (p.Ala491Thr)
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg) rs373480082
NM_170707.4(LMNA):c.1480G>A (p.Val494Met)
NM_170707.4(LMNA):c.1488+3G>A rs2102894426
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1496C>A (p.Ala499Asp) rs2102894911
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
NM_170707.4(LMNA):c.1508G>A (p.Gly503Glu)
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.1525C>A (p.Pro509Thr) rs762847359
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser) rs762847359
NM_170707.4(LMNA):c.152C>G (p.Ser51Trp)
NM_170707.4(LMNA):c.152C>T (p.Ser51Leu) rs1366035491
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn) rs759408439
NM_170707.4(LMNA):c.1533C>A (p.Asp511Glu)
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr) rs1383314305
NM_170707.4(LMNA):c.1547C>T (p.Ala516Val)
NM_170707.4(LMNA):c.1552A>G (p.Asn518Asp) rs757733890
NM_170707.4(LMNA):c.1565G>A (p.Cys522Tyr) rs1553266145
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala) rs1311820114
NM_170707.4(LMNA):c.1603G>C (p.Gly535Arg) rs1304542176
NM_170707.4(LMNA):c.1608+4A>G
NM_170707.4(LMNA):c.1609-19G>A
NM_170707.4(LMNA):c.1609-9C>A 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.1619T>A (p.Met540Lys)
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1625A>G (p.Lys542Arg)
NM_170707.4(LMNA):c.1628T>C (p.Leu543Pro) rs886042329
NM_170707.4(LMNA):c.1630G>A (p.Val544Met)
NM_170707.4(LMNA):c.1631T>C (p.Val544Ala)
NM_170707.4(LMNA):c.1634G>T (p.Arg545Leu)
NM_170707.4(LMNA):c.1640T>C (p.Val547Ala) rs1651784382
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.1666G>A (p.Glu556Lys)
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.1696C>A (p.His566Asn)
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382
NM_170707.4(LMNA):c.1703C>G (p.Ser568Cys) rs1651856057
NM_170707.4(LMNA):c.1726C>T (p.Pro576Ser) rs2102901156
NM_170707.4(LMNA):c.172G>A (p.Gly58Arg)
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) rs59601651
NM_170707.4(LMNA):c.1759C>A (p.Leu587Met)
NM_170707.4(LMNA):c.176T>A (p.Leu59Gln)
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.1789A>G (p.Lys597Glu)
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.1796C>G (p.Ser599Cys) rs2102901662
NM_170707.4(LMNA):c.1799C>T (p.Ala600Val) rs1290479309
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
NM_170707.4(LMNA):c.1811G>A (p.Gly604Glu) rs1651865626
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.1817A>G (p.Gln606Arg) rs1651866656
NM_170707.4(LMNA):c.1819del (p.Val607fs) rs1064796394
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
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.1855A>C (p.Ser619Arg) rs1651869846
NM_170707.4(LMNA):c.1864del (p.Val622fs)
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.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.1885G>A (p.Val629Met) rs1288315740
NM_170707.4(LMNA):c.1886T>G (p.Val629Gly)
NM_170707.4(LMNA):c.1889G>T (p.Gly630Val)
NM_170707.4(LMNA):c.1892G>C (p.Gly631Ala) rs267607648
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.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.1907G>A (p.Ser636Asn) rs2102902387
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.1924G>T (p.Val642Phe)
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.1949A>G (p.Asn650Ser) rs775728847
NM_170707.4(LMNA):c.1957C>T (p.Pro653Ser) rs2102902626
NM_170707.4(LMNA):c.1964C>G (p.Thr655Ser)
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
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.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>T (p.Met664Leu) rs748348868
NM_170707.4(LMNA):c.1991T>G (p.Met664Arg)
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp) rs1397676761
NM_170707.4(LMNA):c.200A>G (p.Glu67Gly) rs1649724739
NM_170707.4(LMNA):c.208G>A (p.Val70Ile)
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.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>C (p.Ala80Pro) rs2102818446
NM_170707.4(LMNA):c.241T>C (p.Tyr81His) rs1553261977
NM_170707.4(LMNA):c.242A>G (p.Tyr81Cys) rs879254319
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
NM_170707.4(LMNA):c.252G>C (p.Glu84Asp) rs794728586
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.294_295delinsAA (p.Arg99Ser)
NM_170707.4(LMNA):c.295C>T (p.Arg99Cys) rs886045364
NM_170707.4(LMNA):c.298G>C (p.Ala100Pro) rs886044468
NM_170707.4(LMNA):c.301C>T (p.Arg101Cys)
NM_170707.4(LMNA):c.302G>A (p.Arg101His) rs267607568
NM_170707.4(LMNA):c.311T>A (p.Leu104Gln) rs886042953
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.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.334G>A (p.Glu112Lys) rs1553262031
NM_170707.4(LMNA):c.335A>G (p.Glu112Gly) rs794728587
NM_170707.4(LMNA):c.339T>A (p.Phe113Leu) rs759878335
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.347T>C (p.Leu116Pro) rs2102819141
NM_170707.4(LMNA):c.352G>T (p.Ala118Ser) rs987482450
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys) rs17856971
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.364A>C (p.Lys122Gln) rs1222398892
NM_170707.4(LMNA):c.371A>G (p.Glu124Gly) rs1650969002
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.380T>C (p.Leu127Pro) rs2102865527
NM_170707.4(LMNA):c.389C>A (p.Ala130Asp) rs1650973990
NM_170707.4(LMNA):c.393G>C (p.Gln131His) rs2102865651
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.40G>A (p.Ala14Thr)
NM_170707.4(LMNA):c.424A>G (p.Asn142Asp) rs1060502217
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>G (p.Lys144Arg)
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.44A>C (p.Gln15Pro) rs748918487
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.475G>C (p.Glu159Gln)
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg) rs765665953
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
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.507G>A (p.Val169=)
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.513+45T>G rs878853220
NM_170707.4(LMNA):c.513+6G>A rs751256959
NM_170707.4(LMNA):c.513G>C (p.Lys171Asn) rs267607542
NM_170707.4(LMNA):c.516T>A (p.Leu172=)
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu) rs762153472
NM_170707.4(LMNA):c.553G>T (p.Asp185Tyr)
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
NM_170707.4(LMNA):c.566G>T (p.Arg189Leu)
NM_170707.4(LMNA):c.575A>G (p.Asp192Gly) rs57045855
NM_170707.4(LMNA):c.592C>A (p.Gln198Lys) rs1553265165
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
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.614A>G (p.Asp205Gly) rs1651353565
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln) rs770744765
NM_170707.4(LMNA):c.625A>G (p.Asn209Asp) rs2102879291
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.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.640-9C>G
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.658C>G (p.Arg220Gly)
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_170707.4(LMNA):c.671C>T (p.Thr224Ile) rs1651393059
NM_170707.4(LMNA):c.676C>G (p.Leu226Val)
NM_170707.4(LMNA):c.679G>A (p.Val227Met)
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.691A>G (p.Asn231Asp)
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.711_716del (p.Glu238_Ser239del)
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.727G>A (p.Asp243Asn)
NM_170707.4(LMNA):c.728A>T (p.Asp243Val) rs1572359925
NM_170707.4(LMNA):c.729T>G (p.Asp243Glu) rs753243743
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys) rs727504373
NM_170707.4(LMNA):c.743T>G (p.Leu248Arg) rs58850446
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr) rs1572360042
NM_170707.4(LMNA):c.754C>A (p.His252Asn) rs2102881566
NM_170707.4(LMNA):c.755A>G (p.His252Arg)
NM_170707.4(LMNA):c.757G>A (p.Glu253Lys)
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.76A>G (p.Ile26Val)
NM_170707.4(LMNA):c.772C>G (p.Gln258Glu) rs2102881769
NM_170707.4(LMNA):c.773A>G (p.Gln258Arg)
NM_170707.4(LMNA):c.778A>G (p.Lys260Glu)
NM_170707.4(LMNA):c.779A>C (p.Lys260Thr) rs2102881862
NM_170707.4(LMNA):c.781A>G (p.Lys261Glu)
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.793A>G (p.Lys265Glu)
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.810+4C>A rs780196737
NM_170707.4(LMNA):c.810+4C>G rs780196737
NM_170707.4(LMNA):c.824G>A (p.Arg275Lys)
NM_170707.4(LMNA):c.838A>G (p.Arg280Gly)
NM_170707.4(LMNA):c.843C>G (p.Asn281Lys)
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.859G>A (p.Ala287Thr)
NM_170707.4(LMNA):c.860C>T (p.Ala287Val) rs397517910
NM_170707.4(LMNA):c.866A>C (p.His289Pro) rs1558130062
NM_170707.4(LMNA):c.875T>G (p.Leu292Arg) rs1572361004
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu) 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.883T>C (p.Ser295Pro) rs267607633
NM_170707.4(LMNA):c.884C>G (p.Ser295Trp)
NM_170707.4(LMNA):c.887G>C (p.Arg296Pro) rs1024051591
NM_170707.4(LMNA):c.887G>T (p.Arg296Leu)
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.893G>T (p.Arg298Leu) rs762653476
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.915G>C (p.Gln305His)
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg) rs2102817441
NM_170707.4(LMNA):c.920G>A (p.Ser307Asn) rs759249597
NM_170707.4(LMNA):c.920G>T (p.Ser307Ile)
NM_170707.4(LMNA):c.931A>G (p.Lys311Glu) rs2102884264
NM_170707.4(LMNA):c.936G>A (p.Gln312=) rs2102884287
NM_170707.4(LMNA):c.937-10C>A rs1362695395
NM_170707.4(LMNA):c.937-9C>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.951G>T (p.Glu317Asp) rs1278448557
NM_170707.4(LMNA):c.962G>A (p.Arg321Gln) rs1180922815
NM_170707.4(LMNA):c.971A>G (p.Glu324Gly) rs2102886914
NM_170707.4(LMNA):c.974A>C (p.Asp325Ala)
NM_170707.4(LMNA):c.976T>G (p.Ser326Ala) rs56851164
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)
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

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