ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5415
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_182914.3(SYNE2):c.-169C>T rs886050575 0.00138
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn) rs142388112 0.00105
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_015374.3(SUN2):c.424+6C>T rs199843484 0.00088
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316 0.00056
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911 0.00050
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) rs141550859 0.00049
NM_001130965.3(SUN1):c.1732G>T (p.Val578Leu) rs201804636 0.00048
NM_001130965.3(SUN1):c.728C>T (p.Ser243Leu) rs372849423 0.00048
NM_001130965.3(SUN1):c.179C>T (p.Thr60Met) rs112200342 0.00047
NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser) rs145337558 0.00046
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00046
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_015374.3(SUN2):c.166G>C (p.Ala56Pro) rs137966643 0.00041
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met) rs150292176 0.00041
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp) rs142117628 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_001130965.3(SUN1):c.733C>G (p.Leu245Val) rs377094306 0.00039
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 0.00039
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00038
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227 0.00035
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser) rs148242740 0.00035
NM_182914.3(SYNE2):c.*315C>T rs183982306 0.00034
NM_182961.4(SYNE1):c.*433A>G rs886061189 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met) rs183872262 0.00031
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys) rs149918889 0.00031
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941 0.00031
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile) rs141049001 0.00030
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) rs139600654 0.00029
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp) rs147841761 0.00029
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396 0.00029
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) rs141996707 0.00028
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_182914.3(SYNE2):c.4738G>T (p.Val1580Phe) rs190340029 0.00027
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp) rs137985190 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128 0.00026
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) rs146769373 0.00026
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met) rs143842011 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu) rs144276162 0.00024
NM_182961.4(SYNE1):c.6382-3C>T rs373663183 0.00024
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_182914.3(SYNE2):c.13417C>T (p.Pro4473Ser) rs146894065 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946 0.00022
NM_182961.4(SYNE1):c.26154-2590C>G rs767099068 0.00022
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly) rs189734757 0.00022
NM_015374.3(SUN2):c.431C>T (p.Ser144Leu) rs143710758 0.00021
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949 0.00021
NM_182914.3(SYNE2):c.5915C>T (p.Pro1972Leu) rs113146258 0.00021
NM_182914.3(SYNE2):c.8632G>A (p.Glu2878Lys) rs61744386 0.00021
NM_182961.4(SYNE1):c.*101C>T rs571719631 0.00021
NM_182961.4(SYNE1):c.*186G>A rs766338162 0.00021
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala) rs200701182 0.00021
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val) rs139544072 0.00021
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218 0.00021
NM_001130965.3(SUN1):c.13C>T (p.Arg5Trp) rs149483651 0.00020
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr) rs113360430 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.22346+6G>T rs368678916 0.00020
NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser) rs541487561 0.00019
NM_001130965.3(SUN1):c.496A>G (p.Ile166Val) rs201949393 0.00019
NM_015374.3(SUN2):c.1139C>A (p.Ala380Asp) rs143302352 0.00019
NM_015374.3(SUN2):c.1508C>T (p.Ser503Leu) rs145490494 0.00019
NM_182914.3(SYNE2):c.12370G>T (p.Val4124Leu) rs370255444 0.00019
NM_182914.3(SYNE2):c.15929T>C (p.Leu5310Ser) rs199976741 0.00019
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys) rs146398606 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val) rs150814357 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met) rs770171807 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr) rs752366165 0.00018
NM_182914.3(SYNE2):c.*807G>A rs755864712 0.00018
NM_182914.3(SYNE2):c.10631G>T (p.Ser3544Ile) rs200109813 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.2425A>G (p.Thr809Ala) rs374684922 0.00018
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val) rs138350962 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val) rs143467834 0.00018
NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg) rs201437034 0.00017
NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr) rs200430189 0.00017
NM_001130965.3(SUN1):c.695C>T (p.Ala232Val) rs181988140 0.00017
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062 0.00017
NM_015374.3(SUN2):c.26C>T (p.Thr9Met) rs149995796 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.5242G>A (p.Ala1748Thr) rs768694081 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_015374.3(SUN2):c.1258G>A (p.Gly420Ser) rs376340507 0.00016
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632 0.00016
NM_182914.3(SYNE2):c.6470T>C (p.Met2157Thr) rs377480048 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.12351+4A>C rs375086691 0.00016
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp) rs375097544 0.00016
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val) rs541395341 0.00016
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys) rs536892317 0.00016
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His) rs558046278 0.00016
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu) rs369236839 0.00016
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala) rs146965313 0.00016
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile) rs377531174 0.00016
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser) rs151300068 0.00016
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val) rs146402274 0.00016
NM_001130965.3(SUN1):c.1531G>A (p.Val511Met) rs369117433 0.00015
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val) rs368907584 0.00015
NM_015374.3(SUN2):c.2040+4C>T rs372381106 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_182914.3(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.17423C>T (p.Thr5808Ile) rs139361264 0.00015
NM_182914.3(SYNE2):c.2827G>T (p.Asp943Tyr) rs543556397 0.00015
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00015
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys) rs201346604 0.00015
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr) rs140962690 0.00015
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val) rs377135952 0.00014
NM_015374.3(SUN2):c.172C>A (p.Gln58Lys) rs375796599 0.00014
NM_182914.3(SYNE2):c.10988A>C (p.Glu3663Ala) rs369298370 0.00014
NM_182914.3(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638 0.00014
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.18304G>A (p.Glu6102Lys) rs560736067 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) rs774710219 0.00014
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr) rs374301933 0.00014
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093 0.00014
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser) rs375686353 0.00014
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg) rs532911105 0.00014
NM_182961.4(SYNE1):c.16573-3C>T rs376927135 0.00014
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327 0.00014
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179 0.00014
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys) rs34974663 0.00014
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn) rs772627014 0.00014
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00014
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser) rs536026654 0.00013
NM_015374.3(SUN2):c.475G>A (p.Val159Ile) rs201453554 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_182914.3(SYNE2):c.-128A>T rs886050576 0.00013
NM_182914.3(SYNE2):c.17038C>T (p.Arg5680Trp) rs143377752 0.00013
NM_182914.3(SYNE2):c.18622C>T (p.Arg6208Cys) rs377305355 0.00013
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331 0.00013
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=) rs142296702 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His) rs139175290 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn) rs780522800 0.00012
NM_015374.3(SUN2):c.1314A>T (p.Glu438Asp) rs200311518 0.00012
NM_015374.3(SUN2):c.521G>T (p.Gly174Val) rs148232799 0.00012
NM_182914.3(SYNE2):c.13883T>C (p.Leu4628Pro) rs559503999 0.00012
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208 0.00012
NM_182914.3(SYNE2):c.15179C>T (p.Pro5060Leu) rs371146862 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_182961.4(SYNE1):c.-347C>A rs570030870 0.00012
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys) rs138770612 0.00012
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala) rs773536890 0.00012
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp) rs150290283 0.00012
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675 0.00012
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met) rs763526846 0.00012
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile) rs371879209 0.00011
NM_001130965.3(SUN1):c.1921A>G (p.Met641Val) rs374040275 0.00011
NM_001130965.3(SUN1):c.319G>A (p.Val107Met) rs376335038 0.00011
NM_001130965.3(SUN1):c.581G>A (p.Arg194His) rs369326753 0.00011
NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln) rs374902623 0.00011
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_015374.3(SUN2):c.31T>C (p.Tyr11His) rs771840984 0.00011
NM_015374.3(SUN2):c.932G>A (p.Arg311Gln) rs376072154 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met) rs202224612 0.00011
NM_182914.3(SYNE2):c.13281-4A>G rs369446724 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.15719C>T (p.Ala5240Val) rs140863307 0.00011
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn) rs769737846 0.00011
NM_182914.3(SYNE2):c.19056+5G>A rs774990082 0.00011
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser) rs148212715 0.00011
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro) rs370472085 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys) rs371642308 0.00011
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala) rs199558070 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213 0.00011
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_001130965.3(SUN1):c.260C>T (p.Ala87Val) rs371152290 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.16753C>T (p.Arg5585Cys) rs370674900 0.00010
NM_182914.3(SYNE2):c.17653A>T (p.Met5885Leu) rs137866467 0.00010
NM_182914.3(SYNE2):c.18000C>A (p.Asn6000Lys) rs150002885 0.00010
NM_182914.3(SYNE2):c.3244-3T>C rs764351817 0.00010
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile) rs759148677 0.00010
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393 0.00010
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His) rs142444474 0.00010
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu) rs375977864 0.00010
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys) rs144244988 0.00010
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly) rs755740366 0.00010
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642 0.00010
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr) rs376169744 0.00010
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met) rs748509032 0.00010
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp) rs200346529 0.00010
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met) rs139798419 0.00010
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys) rs750573381 0.00010
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.5559+5G>A rs371177871 0.00009
NM_001130965.3(SUN1):c.1747A>G (p.Ser583Gly) rs200128195 0.00009
NM_001130965.3(SUN1):c.241G>A (p.Val81Ile) rs536171212 0.00009
NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln) rs369804846 0.00009
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser) rs761300463 0.00009
NM_015374.3(SUN2):c.1160G>A (p.Arg387His) rs775651955 0.00009
NM_015374.3(SUN2):c.1237C>T (p.Arg413Trp) rs534367476 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_182914.3(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837 0.00009
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818 0.00009
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val) rs767658277 0.00009
NM_182914.3(SYNE2):c.14104C>A (p.Pro4702Thr) rs111880729 0.00009
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser) rs577518631 0.00009
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu) rs771507854 0.00009
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg) rs200404150 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182914.3(SYNE2):c.7039G>T (p.Ala2347Ser) rs759251788 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182961.4(SYNE1):c.-305G>T rs949603195 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln) rs763557674 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878 0.00009
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp) rs767636254 0.00009
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr) rs150761564 0.00009
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val) rs143916942 0.00009
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile) rs771840766 0.00009
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His) rs199962439 0.00009
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269 0.00009
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met) rs767144952 0.00009
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile) rs757079165 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu) rs138707300 0.00009
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met) rs145185413 0.00009
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala) rs367790193 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser) rs150723622 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala) rs746347703 0.00009
NM_182961.4(SYNE1):c.24977-1718G>A rs370143116 0.00009
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met) rs147814237 0.00009
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln) rs575386895 0.00009
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile) rs148785548 0.00009
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr) rs398123005 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr) rs574113932 0.00008
NM_001130965.3(SUN1):c.1787G>A (p.Arg596His) rs372947867 0.00008
NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys) rs373928196 0.00008
NM_001130965.3(SUN1):c.683G>A (p.Arg228His) rs773328901 0.00008
NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp) rs199719259 0.00008
NM_015374.3(SUN2):c.1190+6G>A rs762466396 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln) rs374132878 0.00008
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala) rs372848864 0.00008
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg) rs375035375 0.00008
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16905+4A>C rs369093036 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.17630G>A (p.Arg5877Gln) rs746459100 0.00008
NM_182914.3(SYNE2):c.17717C>A (p.Ala5906Asp) rs755652581 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys) rs550171329 0.00008
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199 0.00008
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp) rs377410590 0.00008
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala) rs780396166 0.00008
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp) rs749005373 0.00008
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp) rs140567583 0.00008
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His) rs746141355 0.00008
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln) rs774319570 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His) rs191723029 0.00008
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln) rs538407539 0.00008
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00008
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln) rs774776856 0.00008
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys) rs187117263 0.00008
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln) rs374482089 0.00008
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn) rs151039167 0.00008
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr) rs141821444 0.00008
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro) rs56308121 0.00008
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_001130965.3(SUN1):c.1676T>C (p.Leu559Pro) rs370324367 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly) rs768214736 0.00007
NM_182914.3(SYNE2):c.12492+4A>T rs1016611009 0.00007
NM_182914.3(SYNE2):c.12782C>T (p.Pro4261Leu) rs147278548 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.16244G>T (p.Ser5415Ile) rs377399289 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182914.3(SYNE2):c.2472G>A (p.Gln824=) rs760909392 0.00007
NM_182914.3(SYNE2):c.4704G>C (p.Glu1568Asp) rs112802347 0.00007
NM_182914.3(SYNE2):c.7151C>A (p.Ser2384Tyr) rs759415502 0.00007
NM_182914.3(SYNE2):c.7457_7459del (p.Thr2486_Gly2487delinsArg) rs775671986 0.00007
NM_182914.3(SYNE2):c.8861C>T (p.Ala2954Val) rs369713092 0.00007
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met) rs148158986 0.00007
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) rs781427258 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val) rs772814249 0.00007
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala) rs555800735 0.00007
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr) rs577979265 0.00007
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu) rs919427159 0.00007
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile) rs373619878 0.00007
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_001130965.3(SUN1):c.1301G>A (p.Arg434His) rs776823974 0.00006
NM_001130965.3(SUN1):c.1768A>T (p.Ile590Leu) rs374725863 0.00006
NM_001130965.3(SUN1):c.23T>C (p.Met8Thr) rs373925818 0.00006
NM_001130965.3(SUN1):c.281G>A (p.Arg94His) rs112598200 0.00006
NM_001130965.3(SUN1):c.29G>A (p.Ser10Asn) rs200505697 0.00006
NM_001130965.3(SUN1):c.622G>A (p.Val208Met) rs539058781 0.00006
NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu) rs377260468 0.00006
NM_001130965.3(SUN1):c.958G>A (p.Val320Met) rs555876242 0.00006
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe) rs200854314 0.00006
NM_015374.3(SUN2):c.1205C>T (p.Ser402Phe) rs189897179 0.00006
NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter) rs1370359939 0.00006
NM_015374.3(SUN2):c.1859G>A (p.Arg620His) rs566312173 0.00006
NM_015374.3(SUN2):c.472G>A (p.Ala158Thr) rs199600089 0.00006
NM_015374.3(SUN2):c.616C>A (p.Arg206Ser) rs150381950 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_182914.3(SYNE2):c.10051G>C (p.Glu3351Gln) rs750654159 0.00006
NM_182914.3(SYNE2):c.1031A>G (p.Lys344Arg) rs776084455 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389 0.00006
NM_182914.3(SYNE2):c.12397G>T (p.Ala4133Ser) rs758104840 0.00006
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu) rs148970735 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.14646+6T>A rs369760846 0.00006
NM_182914.3(SYNE2):c.14976+3A>G rs747632731 0.00006
NM_182914.3(SYNE2):c.15185G>A (p.Arg5062His) rs760110795 0.00006
NM_182914.3(SYNE2):c.15439A>G (p.Met5147Val) rs778595864 0.00006
NM_182914.3(SYNE2):c.16084A>G (p.Thr5362Ala) rs141943858 0.00006
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739 0.00006
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977 0.00006
NM_182914.3(SYNE2):c.17791G>A (p.Ala5931Thr) rs945430507 0.00006
NM_182914.3(SYNE2):c.18706G>A (p.Val6236Ile) rs113434745 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.19151G>A (p.Ser6384Asn) rs1440528762 0.00006
NM_182914.3(SYNE2):c.19316A>C (p.Tyr6439Ser) rs753261176 0.00006
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273 0.00006
NM_182914.3(SYNE2):c.296C>G (p.Thr99Arg) rs557215551 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.3829C>T (p.Arg1277Cys) rs530177448 0.00006
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049 0.00006
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn) rs1030213853 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.593A>G (p.Tyr198Cys) rs377436719 0.00006
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu) rs762452734 0.00006
NM_182914.3(SYNE2):c.6946G>A (p.Val2316Ile) rs192424808 0.00006
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp) rs570233690 0.00006
NM_182914.3(SYNE2):c.7358A>T (p.Glu2453Val) rs367811181 0.00006
NM_182914.3(SYNE2):c.7846A>C (p.Lys2616Gln) rs765783307 0.00006
NM_182914.3(SYNE2):c.8524A>G (p.Ile2842Val) rs370213701 0.00006
NM_182914.3(SYNE2):c.8546T>C (p.Met2849Thr) rs759525460 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly) rs201621810 0.00006
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp) rs146919170 0.00006
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu) rs375752705 0.00006
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys) rs148935596 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val) rs145639107 0.00006
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423 0.00006
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu) rs139490297 0.00006
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp) rs75153800 0.00006
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala) rs149081144 0.00006
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln) rs1267929537 0.00006
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile) rs147125369 0.00006
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro) rs371189077 0.00006
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val) rs143910248 0.00006
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His) rs561648669 0.00006
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys) rs781626097 0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln) rs143900928 0.00006
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile) rs371476665 0.00006
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu) rs775901718 0.00006
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro) rs770802176 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser) rs750010888 0.00006
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala) rs148733093 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly) rs148000801 0.00006
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln) rs149606474 0.00006
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly) rs752342922 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly) rs555731770 0.00006
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr) rs772266857 0.00006
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly) rs557081125 0.00006
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys) rs747706541 0.00006
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys) rs367594476 0.00006
NM_182961.4(SYNE1):c.666G>A (p.Pro222=) rs141368652 0.00006
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser) rs761396972 0.00006
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser) rs763615170 0.00006
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys) rs140568392 0.00006
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn) rs77221231 0.00006
NM_182961.4(SYNE1):c.9807+6G>A rs376694958 0.00006
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val) rs373760161 0.00006
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln) rs368575559 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp) rs730880828 0.00005
NM_001130965.3(SUN1):c.1362G>T (p.Lys454Asn) rs202122012 0.00005
NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly) rs777193403 0.00005
NM_001130965.3(SUN1):c.722C>T (p.Ala241Val) rs369311027 0.00005
NM_001130965.3(SUN1):c.763G>A (p.Ala255Thr) rs201864272 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001159699.2(FHL1):c.817G>A (p.Val273Met) rs190006104 0.00005
NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn) rs549404842 0.00005
NM_015374.3(SUN2):c.8G>A (p.Arg3Gln) rs764750687 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_182914.3(SYNE2):c.10867-3T>C rs764840139 0.00005
NM_182914.3(SYNE2):c.13000C>G (p.Gln4334Glu) rs374108464 0.00005
NM_182914.3(SYNE2):c.13423G>A (p.Val4475Ile) rs200498250 0.00005
NM_182914.3(SYNE2):c.15073A>G (p.Thr5025Ala) rs527550049 0.00005
NM_182914.3(SYNE2):c.15307-3T>C rs781158552 0.00005
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559 0.00005
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile) rs759251568 0.00005
NM_182914.3(SYNE2):c.19657+6G>A rs202159156 0.00005
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln) rs200847772 0.00005
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys) rs199923651 0.00005
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182914.3(SYNE2):c.2940+6A>G rs371534076 0.00005
NM_182914.3(SYNE2):c.3755T>C (p.Ile1252Thr) rs767383909 0.00005
NM_182914.3(SYNE2):c.3971C>T (p.Ala1324Val) rs778039158 0.00005
NM_182914.3(SYNE2):c.3989C>T (p.Ala1330Val) rs762901807 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.7223A>T (p.Asp2408Val) rs550374867 0.00005
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp) rs145117891 0.00005
NM_182961.4(SYNE1):c.10443+5G>A rs557835636 0.00005
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile) rs760680769 0.00005
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr) rs141719907 0.00005
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly) rs377526133 0.00005
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr) rs775930653 0.00005
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411 0.00005
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile) rs1273141730 0.00005
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser) rs773901491 0.00005
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg) rs144714939 0.00005
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu) rs769058871 0.00005
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166 0.00005
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys) rs200360218 0.00005
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg) rs572189966 0.00005
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp) rs368534747 0.00005
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met) rs184210675 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His) rs760706012 0.00005
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn) rs779301586 0.00005
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521 0.00005
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile) rs760451139 0.00005
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met) rs374866393 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn) rs146280967 0.00005
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys) rs139885317 0.00005
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn) rs748216902 0.00005
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg) rs759004104 0.00005
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met) rs139560053 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly) rs539464964 0.00005
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061 0.00005
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val) rs528549317 0.00005
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys) rs181218387 0.00005
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr) rs756079906 0.00005
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000117.3(EMD):c.608G>A (p.Arg203His) rs144842093 0.00004
NM_000257.4(MYH7):c.1368C>T (p.Phe456=) rs766216871 0.00004
NM_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp) rs747198710 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu) rs767000995 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) rs730880808 0.00004
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr) rs145822086 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_001130965.3(SUN1):c.1210G>A (p.Ala404Thr) rs757340477 0.00004
NM_001130965.3(SUN1):c.1372C>G (p.Gln458Glu) rs547404802 0.00004
NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val) rs199915497 0.00004
NM_001130965.3(SUN1):c.1923G>A (p.Met641Ile) rs750658890 0.00004
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn) rs374767640 0.00004
NM_001130965.3(SUN1):c.2227A>G (p.Met743Val) rs368333285 0.00004
NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln) rs781471011 0.00004
NM_001159702.3(FHL1):c.-101+3A>G rs895540444 0.00004
NM_015374.3(SUN2):c.1135C>T (p.Arg379Trp) rs372953657 0.00004
NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu) rs990153882 0.00004
NM_015374.3(SUN2):c.1394T>A (p.Leu465His) rs751880061 0.00004
NM_015374.3(SUN2):c.1613G>A (p.Arg538His) rs539760038 0.00004
NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser) rs750800615 0.00004
NM_015374.3(SUN2):c.800C>T (p.Ser267Leu) rs200092509 0.00004
NM_015374.3(SUN2):c.854G>A (p.Arg285Gln) rs760591672 0.00004
NM_015374.3(SUN2):c.910C>T (p.Arg304Trp) rs199636823 0.00004
NM_015374.3(SUN2):c.911G>A (p.Arg304Gln) rs372788944 0.00004
NM_015374.3(SUN2):c.919C>T (p.Arg307Cys) rs758857415 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 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_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly) rs75146753 0.00004
NM_182914.3(SYNE2):c.10721A>G (p.Asn3574Ser) rs755972675 0.00004
NM_182914.3(SYNE2):c.10844C>T (p.Pro3615Leu) rs549458287 0.00004
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly) rs763363520 0.00004
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr) rs759802358 0.00004
NM_182914.3(SYNE2):c.11867T>C (p.Leu3956Ser) rs746480532 0.00004
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly) rs769301000 0.00004
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser) rs751766809 0.00004
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.12991A>T (p.Met4331Leu) rs144392904 0.00004
NM_182914.3(SYNE2):c.13021C>G (p.Gln4341Glu) rs367698099 0.00004
NM_182914.3(SYNE2):c.13159-7A>G rs759110381 0.00004
NM_182914.3(SYNE2):c.13525C>T (p.Arg4509Cys) rs752451899 0.00004
NM_182914.3(SYNE2):c.13814A>C (p.Glu4605Ala) rs766721405 0.00004
NM_182914.3(SYNE2):c.13907G>A (p.Arg4636His) rs752745004 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.14047G>A (p.Glu4683Lys) rs146157227 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.14239A>G (p.Met4747Val) rs759983332 0.00004
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys) rs146052780 0.00004
NM_182914.3(SYNE2):c.14827C>T (p.Leu4943Phe) rs150137142 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe) rs551007724 0.00004
NM_182914.3(SYNE2):c.16024G>A (p.Gly5342Ser) rs34541826 0.00004
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=) rs764264884 0.00004
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890 0.00004
NM_182914.3(SYNE2):c.16671G>C (p.Lys5557Asn) rs777646941 0.00004
NM_182914.3(SYNE2):c.17140C>T (p.Arg5714Cys) rs375246083 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly) rs147097998 0.00004
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met) rs778679729 0.00004
NM_182914.3(SYNE2):c.17959T>C (p.Ser5987Pro) rs772035517 0.00004
NM_182914.3(SYNE2):c.18317T>C (p.Ile6106Thr) rs144624224 0.00004
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys) rs374948516 0.00004
NM_182914.3(SYNE2):c.1919A>G (p.Asn640Ser) rs111890751 0.00004
NM_182914.3(SYNE2):c.19269C>T (p.Gly6423=) rs145411822 0.00004
NM_182914.3(SYNE2):c.19478T>C (p.Met6493Thr) rs138514714 0.00004
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=) rs772308280 0.00004
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu) rs201256334 0.00004
NM_182914.3(SYNE2):c.20061+5G>A rs774599138 0.00004
NM_182914.3(SYNE2):c.20206C>G (p.Leu6736Val) rs779852124 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe) rs766796829 0.00004
NM_182914.3(SYNE2):c.2781+5G>A rs371516053 0.00004
NM_182914.3(SYNE2):c.2858T>A (p.Ile953Asn) rs756623151 0.00004
NM_182914.3(SYNE2):c.2902C>T (p.Arg968Cys) rs758515221 0.00004
NM_182914.3(SYNE2):c.2933A>G (p.Glu978Gly) rs769589509 0.00004
NM_182914.3(SYNE2):c.3143C>T (p.Ser1048Leu) rs763314715 0.00004
NM_182914.3(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655 0.00004
NM_182914.3(SYNE2):c.3665G>A (p.Arg1222Gln) rs370747910 0.00004
NM_182914.3(SYNE2):c.5294A>T (p.Glu1765Val) rs558820427 0.00004
NM_182914.3(SYNE2):c.5423C>G (p.Thr1808Ser) rs780659094 0.00004
NM_182914.3(SYNE2):c.5540T>G (p.Phe1847Cys) rs182807926 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.7399G>A (p.Ala2467Thr) rs752492583 0.00004
NM_182914.3(SYNE2):c.7481T>C (p.Ile2494Thr) rs377113182 0.00004
NM_182914.3(SYNE2):c.7816G>A (p.Gly2606Ser) rs201069405 0.00004
NM_182914.3(SYNE2):c.8148G>T (p.Leu2716Phe) rs529012269 0.00004
NM_182914.3(SYNE2):c.8786G>A (p.Arg2929Lys) rs1177149020 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln) rs747991604 0.00004
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys) rs776816480 0.00004
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro) rs774759366 0.00004
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met) rs778034684 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp) rs371013745 0.00004
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg) rs780693119 0.00004
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg) rs76410834 0.00004
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu) rs780637080 0.00004
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His) rs190032752 0.00004
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu) rs772000149 0.00004
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu) rs148036239 0.00004
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys) rs762119902 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile) rs1007433720 0.00004
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006 0.00004
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys) rs371375804 0.00004
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln) rs745701031 0.00004
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val) rs767978898 0.00004
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala) rs534678815 0.00004
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys) rs780258342 0.00004
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr) rs765800192 0.00004
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys) rs757086609 0.00004
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931 0.00004
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln) rs776100963 0.00004
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His) rs753544584 0.00004
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp) rs202171698 0.00004
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln) rs367925174 0.00004
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931 0.00004
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394 0.00004
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu) rs145085256 0.00004
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His) rs746220387 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala) rs146618884 0.00004
NM_182961.4(SYNE1):c.18628C>T (p.Pro6210Ser) rs868377407 0.00004
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr) rs143594709 0.00004
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys) rs143554730 0.00004
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln) rs774558249 0.00004
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile) rs563568189 0.00004
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp) rs140903556 0.00004
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile) rs769943110 0.00004
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg) rs752508132 0.00004
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His) rs777155965 0.00004
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser) rs778441411 0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met) rs377449974 0.00004
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His) rs776733924 0.00004
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr) rs190781696 0.00004
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val) rs139077054 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val) rs746456193 0.00004
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys) rs769930534 0.00004
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861 0.00004
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223 0.00004
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln) rs200137670 0.00004
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln) rs369073682 0.00004
NM_182961.4(SYNE1):c.24977-1719A>G rs202030113 0.00004
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys) rs755199419 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe) rs757463285 0.00004
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met) rs759512753 0.00004
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu) rs191807870 0.00004
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu) rs747635401 0.00004
NM_182961.4(SYNE1):c.3186+4C>T rs747984490 0.00004
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg) rs149415204 0.00004
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val) rs765122984 0.00004
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val) rs200629713 0.00004
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln) rs774093065 0.00004
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp) rs200763530 0.00004
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val) rs767783076 0.00004
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln) rs760544014 0.00004
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln) rs779239788 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp) rs763781396 0.00004
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg) rs779891217 0.00004
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu) rs150249753 0.00004
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro) rs375773340 0.00004
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser) rs377180714 0.00004
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro) rs757960938 0.00004
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) rs770907182 0.00004
NM_182961.4(SYNE1):c.888+4G>C rs749258298 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.361G>A (p.Val121Met) rs2067880161 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.412G>A (p.Asp138Asn) rs782737897 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln) rs747308839 0.00003
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) rs766561921 0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) rs565663412 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000257.4(MYH7):c.639+5G>T rs765724983 0.00003
NM_001130965.3(SUN1):c.1025C>T (p.Thr342Met) rs544208812 0.00003
NM_001130965.3(SUN1):c.1420A>C (p.Thr474Pro) rs781596220 0.00003
NM_001130965.3(SUN1):c.1903G>A (p.Glu635Lys) rs376317036 0.00003
NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile) rs199937447 0.00003
NM_001159699.2(FHL1):c.248G>A (p.Arg83His) rs745544703 0.00003
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr) rs139625615 0.00003
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) rs756434530 0.00003
NM_001159699.2(FHL1):c.379+4C>T rs769453769 0.00003
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu) rs749265329 0.00003
NM_015374.3(SUN2):c.1663+4C>T rs367645117 0.00003
NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr) rs754499171 0.00003
NM_015374.3(SUN2):c.231G>C (p.Glu77Asp) rs760297349 0.00003
NM_015374.3(SUN2):c.362G>A (p.Arg121His) rs200211836 0.00003
NM_015374.3(SUN2):c.458C>T (p.Ser153Leu) rs374690791 0.00003
NM_015374.3(SUN2):c.604G>A (p.Val202Ile) rs751598721 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 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.937-8C>A rs751707982 0.00003
NM_182914.3(SYNE2):c.*305G>T rs886050605 0.00003
NM_182914.3(SYNE2):c.10164G>A (p.Ser3388=) rs772208833 0.00003
NM_182914.3(SYNE2):c.10327G>A (p.Val3443Met) rs564182126 0.00003
NM_182914.3(SYNE2):c.10393G>A (p.Glu3465Lys) rs376654106 0.00003
NM_182914.3(SYNE2):c.10424G>A (p.Ser3475Asn) rs769912217 0.00003
NM_182914.3(SYNE2):c.10454T>C (p.Leu3485Ser) rs533363453 0.00003
NM_182914.3(SYNE2):c.10460A>C (p.Asn3487Thr) rs776293614 0.00003
NM_182914.3(SYNE2):c.10639G>T (p.Ala3547Ser) rs1198798280 0.00003
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883 0.00003
NM_182914.3(SYNE2):c.11336A>G (p.Gln3779Arg) rs538884693 0.00003
NM_182914.3(SYNE2):c.11441A>G (p.Tyr3814Cys) rs780583186 0.00003
NM_182914.3(SYNE2):c.12529A>G (p.Met4177Val) rs772354856 0.00003
NM_182914.3(SYNE2):c.12856A>C (p.Ile4286Leu) rs763081757 0.00003
NM_182914.3(SYNE2):c.13524G>C (p.Leu4508=) rs373702093 0.00003
NM_182914.3(SYNE2):c.13670A>G (p.Tyr4557Cys) rs1215002631 0.00003
NM_182914.3(SYNE2):c.13709C>T (p.Thr4570Met) rs199750072 0.00003
NM_182914.3(SYNE2):c.13855G>T (p.Ala4619Ser) rs374462333 0.00003
NM_182914.3(SYNE2):c.13861G>A (p.Ala4621Thr) rs745357432 0.00003
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895 0.00003
NM_182914.3(SYNE2):c.14400A>G (p.Ile4800Met) rs368522050 0.00003
NM_182914.3(SYNE2):c.14701G>A (p.Glu4901Lys) rs766116136 0.00003
NM_182914.3(SYNE2):c.14962A>G (p.Ile4988Val) rs912250826 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.15749G>A (p.Arg5250Gln) rs201962497 0.00003
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.16094+4T>A rs769120290 0.00003
NM_182914.3(SYNE2):c.16109A>C (p.Asn5370Thr) rs760687493 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946 0.00003
NM_182914.3(SYNE2):c.17188G>A (p.Glu5730Lys) rs368540403 0.00003
NM_182914.3(SYNE2):c.17235+5T>C rs777252251 0.00003
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708 0.00003
NM_182914.3(SYNE2):c.17692T>C (p.Trp5898Arg) rs147971588 0.00003
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His) rs963291095 0.00003
NM_182914.3(SYNE2):c.18379C>T (p.Arg6127Trp) rs368136441 0.00003
NM_182914.3(SYNE2):c.18407G>A (p.Arg6136His) rs761163756 0.00003
NM_182914.3(SYNE2):c.18440G>A (p.Arg6147His) rs761124507 0.00003
NM_182914.3(SYNE2):c.18566G>A (p.Arg6189Gln) rs751450273 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val) rs762635611 0.00003
NM_182914.3(SYNE2):c.19609C>G (p.Pro6537Ala) rs570564199 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_182914.3(SYNE2):c.20050A>G (p.Met6684Val) rs1489141038 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.20314A>G (p.Ile6772Val) rs566278939 0.00003
NM_182914.3(SYNE2):c.242G>A (p.Arg81Gln) rs756729566 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.2663C>T (p.Ser888Phe) rs763645041 0.00003
NM_182914.3(SYNE2):c.2680G>A (p.Ala894Thr) rs752011037 0.00003
NM_182914.3(SYNE2):c.3917C>A (p.Thr1306Lys) rs749834245 0.00003
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val) rs761503203 0.00003
NM_182914.3(SYNE2):c.4513G>A (p.Val1505Met) rs542064510 0.00003
NM_182914.3(SYNE2):c.4587A>G (p.Gln1529=) rs774411048 0.00003
NM_182914.3(SYNE2):c.4742A>C (p.Lys1581Thr) rs746066706 0.00003
NM_182914.3(SYNE2):c.4748A>T (p.Glu1583Val) rs775635485 0.00003
NM_182914.3(SYNE2):c.5098G>A (p.Val1700Met) rs372345929 0.00003
NM_182914.3(SYNE2):c.5159A>C (p.Glu1720Ala) rs1013597826 0.00003
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446 0.00003
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His) rs1264331455 0.00003
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu) rs770940744 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.7254A>G (p.Gln2418=) rs984046422 0.00003
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys) rs748757670 0.00003
NM_182914.3(SYNE2):c.8849A>C (p.Glu2950Ala) rs540706990 0.00003
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389 0.00003
NM_182914.3(SYNE2):c.8968G>A (p.Ala2990Thr) rs748085293 0.00003
NM_182914.3(SYNE2):c.9001C>G (p.Leu3001Val) rs771518864 0.00003
NM_182914.3(SYNE2):c.9124G>C (p.Glu3042Gln) rs1364501437 0.00003
NM_182961.4(SYNE1):c.-361G>T rs886061221 0.00003
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu) rs374839445 0.00003
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln) rs139691734 0.00003
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile) rs755180412 0.00003
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln) rs192623867 0.00003
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp) rs777447487 0.00003
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile) rs201487756 0.00003
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624 0.00003
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys) rs879779013 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) rs771461121 0.00003
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=) rs1272129870 0.00003
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu) rs779969031 0.00003
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His) rs768085752 0.00003
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg) rs375344467 0.00003
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397 0.00003
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe) rs753473819 0.00003
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn) rs762502490 0.00003
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys) rs755654863 0.00003
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly) rs375432465 0.00003
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg) rs797046023 0.00003
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala) rs886044412 0.00003
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser) rs374220794 0.00003
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro) rs373679435 0.00003
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val) rs766395351 0.00003
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr) rs774189380 0.00003
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr) rs765300968 0.00003
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln) rs777432650 0.00003
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys) rs528094877 0.00003
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu) rs558425673 0.00003
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser) rs149624155 0.00003
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp) rs201873107 0.00003
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys) rs551488589 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys) rs758182381 0.00003
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala) rs769384397 0.00003
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys) rs758159968 0.00003
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521 0.00003
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329 0.00003
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) rs553508431 0.00003
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln) rs140360127 0.00003
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys) rs370571896 0.00003
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His) rs139384691 0.00003
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007 0.00003
NM_182961.4(SYNE1):c.20937T>C (p.Ser6979=) rs762665527 0.00003
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu) rs139062689 0.00003
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu) rs766914765 0.00003
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly) rs759479600 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile) rs777920461 0.00003
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121 0.00003
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys) rs549357903 0.00003
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp) rs755302191 0.00003
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val) rs372246112 0.00003
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu) rs749743156 0.00003
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys) rs761198027 0.00003
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg) rs371656793 0.00003
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp) rs749900550 0.00003
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val) rs1055043180 0.00003
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr) rs780029496 0.00003
NM_182961.4(SYNE1):c.2394+5G>A rs199933019 0.00003
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly) rs766207775 0.00003
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) rs375917264 0.00003
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg) rs756023993 0.00003
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys) rs373016793 0.00003
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val) rs147285387 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met) rs777634676 0.00003
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu) rs188852595 0.00003
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr) rs886043013 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu) rs748328529 0.00003
NM_182961.4(SYNE1):c.25230C>T (p.Thr8410=) rs758276004 0.00003
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg) rs1395937709 0.00003
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn) rs990137456 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe) rs886061212 0.00003
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala) rs141164314 0.00003
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe) rs544182159 0.00003
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His) rs142705233 0.00003
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys) rs373642960 0.00003
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val) rs138691290 0.00003
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys) rs148885424 0.00003
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg) rs567913785 0.00003
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys) rs184779168 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) rs372524102 0.00003
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr) rs764200857 0.00003
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His) rs759461786 0.00003
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile) rs747633088 0.00003
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=) rs1268841274 0.00003
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser) rs146916975 0.00003
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met) rs548283137 0.00003
NM_000117.3(EMD):c.137G>A (p.Arg46Gln) rs941514119 0.00002
NM_000117.3(EMD):c.148C>T (p.Pro50Ser) rs781936763 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.422C>T (p.Ser141Phe) rs1262954618 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000117.3(EMD):c.632G>A (p.Arg211His) rs782596223 0.00002
NM_000117.3(EMD):c.704T>C (p.Phe235Ser) rs782627156 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2868T>C (p.Asp956=) rs140718120 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=) rs770630028 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp) rs769112519 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_001130965.3(SUN1):c.1229C>T (p.Ser410Leu) rs963866352 0.00002
NM_001130965.3(SUN1):c.1296A>G (p.Glu432=) rs761026434 0.00002
NM_001130965.3(SUN1):c.1958A>G (p.Gln653Arg) rs573186073 0.00002
NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp) rs776947421 0.00002
NM_001130965.3(SUN1):c.5A>C (p.Asp2Ala) rs199693265 0.00002
NM_001130965.3(SUN1):c.720G>A (p.Thr240=) rs186121469 0.00002
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser) rs886043917 0.00002
NM_001159699.2(FHL1):c.179G>A (p.Arg60His) rs11557264 0.00002
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys) rs758269641 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn) rs764567944 0.00002
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu) rs374479477 0.00002
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser) rs1569530504 0.00002
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) rs1230410861 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu) rs747922027 0.00002
NM_015374.3(SUN2):c.1061G>A (p.Arg354His) rs1240205767 0.00002
NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln) rs763323157 0.00002
NM_015374.3(SUN2):c.1238G>A (p.Arg413Gln) rs748611243 0.00002
NM_015374.3(SUN2):c.1349G>A (p.Arg450Gln) rs1371797768 0.00002
NM_015374.3(SUN2):c.1467G>C (p.Glu489Asp) rs148038201 0.00002
NM_015374.3(SUN2):c.1712C>T (p.Thr571Met) rs752150588 0.00002
NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu) rs770892695 0.00002
NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln) rs769627673 0.00002
NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile) rs755259603 0.00002
NM_015374.3(SUN2):c.304C>T (p.Arg102Trp) rs146324000 0.00002
NM_015374.3(SUN2):c.425-3C>A rs368321480 0.00002
NM_015374.3(SUN2):c.542A>G (p.Tyr181Cys) rs776343176 0.00002
NM_015374.3(SUN2):c.583G>C (p.Ala195Pro) rs778335481 0.00002
NM_015374.3(SUN2):c.615-2A>G rs1272584066 0.00002
NM_015374.3(SUN2):c.817G>A (p.Glu273Lys) rs747536298 0.00002
NM_015374.3(SUN2):c.824G>A (p.Arg275His) rs780349096 0.00002
NM_015374.3(SUN2):c.931C>T (p.Arg311Trp) rs764150835 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 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.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 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
NM_182914.3(SYNE2):c.10036G>A (p.Ala3346Thr) rs536877053 0.00002
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu) rs759908590 0.00002
NM_182914.3(SYNE2):c.10597C>G (p.Gln3533Glu) rs200040718 0.00002
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.10970T>C (p.Ile3657Thr) rs765755231 0.00002
NM_182914.3(SYNE2):c.11030A>G (p.Asn3677Ser) rs1044882220 0.00002
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr) rs746878775 0.00002
NM_182914.3(SYNE2):c.1106C>T (p.Ala369Val) rs550699600 0.00002
NM_182914.3(SYNE2):c.11090A>G (p.Asn3697Ser) rs771556616 0.00002
NM_182914.3(SYNE2):c.11282T>A (p.Ile3761Asn) rs767934367 0.00002
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131 0.00002
NM_182914.3(SYNE2):c.11930T>C (p.Ile3977Thr) rs1459437577 0.00002
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008 0.00002
NM_182914.3(SYNE2):c.11G>A (p.Ser4Asn) rs750823503 0.00002
NM_182914.3(SYNE2):c.12108+3A>G rs751551602 0.00002
NM_182914.3(SYNE2):c.12194T>C (p.Leu4065Pro) rs780016521 0.00002
NM_182914.3(SYNE2):c.12227A>G (p.Glu4076Gly) rs556962500 0.00002
NM_182914.3(SYNE2):c.1238C>T (p.Ser413Phe) rs777663838 0.00002
NM_182914.3(SYNE2):c.12608A>T (p.Glu4203Val) rs949678604 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.12941C>T (p.Ala4314Val) rs769993001 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.13159-3C>T rs1277619996 0.00002
NM_182914.3(SYNE2):c.13241G>A (p.Cys4414Tyr) rs1020799360 0.00002
NM_182914.3(SYNE2):c.13707+6G>A rs776316108 0.00002
NM_182914.3(SYNE2):c.13897G>A (p.Asp4633Asn) rs751862856 0.00002
NM_182914.3(SYNE2):c.14053G>A (p.Ala4685Thr) rs779457100 0.00002
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00002
NM_182914.3(SYNE2):c.14207C>T (p.Thr4736Ile) rs141148067 0.00002
NM_182914.3(SYNE2):c.14229G>T (p.Leu4743Phe) rs772739903 0.00002
NM_182914.3(SYNE2):c.14312C>T (p.Ala4771Val) rs573850693 0.00002
NM_182914.3(SYNE2):c.14614G>A (p.Glu4872Lys) rs140203936 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln) rs747472621 0.00002
NM_182914.3(SYNE2):c.15159+1G>T rs778511275 0.00002
NM_182914.3(SYNE2):c.15457C>T (p.Arg5153Cys) rs770267414 0.00002
NM_182914.3(SYNE2):c.15464A>G (p.His5155Arg) rs112886641 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16094G>A (p.Arg5365Lys) rs1007733286 0.00002
NM_182914.3(SYNE2):c.16246A>C (p.Met5416Leu) rs772402331 0.00002
NM_182914.3(SYNE2):c.16304T>G (p.Leu5435Arg) rs750900424 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys) rs747214483 0.00002
NM_182914.3(SYNE2):c.17049T>G (p.Asn5683Lys) rs1163559639 0.00002
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys) rs376008959 0.00002
NM_182914.3(SYNE2):c.17443T>C (p.Cys5815Arg) rs765907856 0.00002
NM_182914.3(SYNE2):c.17635G>A (p.Val5879Ile) rs555731479 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn) rs543875232 0.00002
NM_182914.3(SYNE2):c.18180G>C (p.Gln6060His) rs771893487 0.00002
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val) rs766731181 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.18851G>A (p.Arg6284His) rs202157687 0.00002
NM_182914.3(SYNE2):c.19141C>T (p.Arg6381Trp) rs372959292 0.00002
NM_182914.3(SYNE2):c.19502C>G (p.Pro6501Arg) rs763965173 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.20215C>T (p.Arg6739Cys) rs142809757 0.00002
NM_182914.3(SYNE2):c.20288T>C (p.Ile6763Thr) rs758317659 0.00002
NM_182914.3(SYNE2):c.20543G>A (p.Arg6848His) rs759174521 0.00002
NM_182914.3(SYNE2):c.237+6A>G rs766604570 0.00002
NM_182914.3(SYNE2):c.241C>T (p.Arg81Trp) rs964727357 0.00002
NM_182914.3(SYNE2):c.2646+6A>T rs768967034 0.00002
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser) rs376041943 0.00002
NM_182914.3(SYNE2):c.332T>C (p.Ile111Thr) rs771063078 0.00002
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys) rs748431472 0.00002
NM_182914.3(SYNE2):c.3505C>T (p.Arg1169Cys) rs574167855 0.00002
NM_182914.3(SYNE2):c.3567G>T (p.Lys1189Asn) rs776221033 0.00002
NM_182914.3(SYNE2):c.3804A>G (p.Ile1268Met) rs753563194 0.00002
NM_182914.3(SYNE2):c.3823T>C (p.Cys1275Arg) rs2096765246 0.00002
NM_182914.3(SYNE2):c.4013C>T (p.Ser1338Phe) rs1226719188 0.00002
NM_182914.3(SYNE2):c.4024G>A (p.Val1342Ile) rs747274988 0.00002
NM_182914.3(SYNE2):c.4332A>G (p.Gln1444=) rs753910622 0.00002
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg) rs537177665 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215 0.00002
NM_182914.3(SYNE2):c.4972A>G (p.Ile1658Val) rs1202099367 0.00002
NM_182914.3(SYNE2):c.5015A>T (p.His1672Leu) rs927045912 0.00002
NM_182914.3(SYNE2):c.6164A>G (p.His2055Arg) rs368032214 0.00002
NM_182914.3(SYNE2):c.6398A>T (p.Tyr2133Phe) rs1307365295 0.00002
NM_182914.3(SYNE2):c.660T>G (p.Ile220Met) rs375642734 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.7321A>G (p.Asn2441Asp) rs754057512 0.00002
NM_182914.3(SYNE2):c.7541A>T (p.Asn2514Ile) rs771061486 0.00002
NM_182914.3(SYNE2):c.7727A>T (p.Asn2576Ile) rs754276862 0.00002
NM_182914.3(SYNE2):c.8329G>A (p.Ala2777Thr) rs187045714 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182914.3(SYNE2):c.8472A>G (p.Gln2824=) rs888692979 0.00002
NM_182914.3(SYNE2):c.8547G>T (p.Met2849Ile) rs755461661 0.00002
NM_182914.3(SYNE2):c.8558G>A (p.Ser2853Asn) rs763671728 0.00002
NM_182914.3(SYNE2):c.8729G>A (p.Arg2910Lys) rs367802102 0.00002
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln) rs866911879 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.9692G>A (p.Arg3231His) rs773533722 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile) rs762448899 0.00002
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952 0.00002
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr) rs1489130675 0.00002
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys) rs531503159 0.00002
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp) rs766218121 0.00002
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg) rs751032216 0.00002
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys) rs371209532 0.00002
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys) rs767544504 0.00002
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu) rs377095831 0.00002
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser) rs757408388 0.00002
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys) rs143519691 0.00002
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly) rs771572017 0.00002
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys) rs768435800 0.00002
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg) rs771294384 0.00002
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn) rs148782440 0.00002
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp) rs745342797 0.00002
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val) rs560488372 0.00002
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn) rs201449723 0.00002
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly) rs964082904 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys) rs777182389 0.00002
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr) rs368709678 0.00002
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly) rs777385898 0.00002
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile) rs374596074 0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser) rs368490158 0.00002
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr) rs999907923 0.00002
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg) rs577675508 0.00002
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His) rs369433602 0.00002
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His) rs754495941 0.00002
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr) rs762212036 0.00002
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr) rs202149617 0.00002
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln) rs772978925 0.00002
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467 0.00002
NM_182961.4(SYNE1):c.15408T>C (p.His5136=) rs776024178 0.00002
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile) rs770022371 0.00002
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe) rs377227289 0.00002
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His) rs370002959 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro) rs373436725 0.00002
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp) rs780794124 0.00002
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe) rs767705064 0.00002
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn) rs751747080 0.00002
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg) rs201146113 0.00002
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln) rs147858920 0.00002
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys) rs558631055 0.00002
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val) rs780920250 0.00002
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys) rs980349048 0.00002
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met) rs373188583 0.00002
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) rs138258566 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser) rs777882357 0.00002
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) rs773315032 0.00002
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro) rs773155844 0.00002
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His) rs777618601 0.00002
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys) rs772396355 0.00002
NM_182961.4(SYNE1):c.21351+6A>G rs760934207 0.00002
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn) rs1488536575 0.00002
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala) rs1386701721 0.00002
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615 0.00002
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe) rs886061196 0.00002
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys) rs755621860 0.00002
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile) rs138581943 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln) rs1461427417 0.00002
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu) rs780201995 0.00002
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn) rs1435183530 0.00002
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp) rs373935459 0.00002
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn) rs760076679 0.00002
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr) rs886042801 0.00002
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile) rs528535664 0.00002
NM_182961.4(SYNE1):c.2394+3G>A rs368012666 0.00002
NM_182961.4(SYNE1):c.2394+4C>T rs749262350 0.00002
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr) rs750841362 0.00002
NM_182961.4(SYNE1):c.242G>A (p.Arg81His) rs761189574 0.00002
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu) rs149940427 0.00002
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val) rs773060979 0.00002
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys) rs200752692 0.00002
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala) rs754128595 0.00002
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His) rs376102438 0.00002
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn) rs751624606 0.00002
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp) rs201109440 0.00002
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val) rs776807564 0.00002
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr) rs927451522 0.00002
NM_182961.4(SYNE1):c.25119+3A>G rs1057521423 0.00002
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys) rs770166877 0.00002
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr) rs770713708 0.00002
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val) rs775455354 0.00002
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs) rs774317818 0.00002
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg) rs758464869 0.00002
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val) rs1310685451 0.00002
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591 0.00002
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr) rs769726483 0.00002
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys) rs138915528 0.00002
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=) rs762887399 0.00002
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg) rs146300279 0.00002
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn) rs774194598 0.00002
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe) rs151002514 0.00002
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln) rs749115727 0.00002
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met) rs372724272 0.00002
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly) rs144732736 0.00002
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys) rs1563856215 0.00002
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn) rs1449605743 0.00002
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser) rs200432574 0.00002
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln) rs201747340 0.00002
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly) rs368938119 0.00002
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser) rs28447480 0.00002
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu) rs765343767 0.00002
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly) rs370851746 0.00002
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His) rs755821648 0.00002
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met) rs146099481 0.00002
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr) rs763152677 0.00002
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646 0.00002
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg) rs527670014 0.00002
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile) rs375687383 0.00002
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys) rs762448241 0.00002
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser) rs367840064 0.00002
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu) rs370644295 0.00002
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val) rs746384150 0.00002
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly) rs886044262 0.00002
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387 0.00002
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser) rs781096163 0.00002
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu) rs576979843 0.00002
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu) rs145819043 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg) rs555197359 0.00002
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val) rs780460827 0.00002
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile) rs762807112 0.00002
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His) rs745707616 0.00002
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638 0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.295T>C (p.Tyr99His) rs781835089 0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu) rs782038352 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr) rs782110153 0.00001
NM_000117.3(EMD):c.406G>C (p.Asp136His) rs869025401 0.00001
NM_000117.3(EMD):c.423T>G (p.Ser141=) rs1209782193 0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys) rs782732591 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys) rs1569552104 0.00001
NM_000117.3(EMD):c.557C>T (p.Ser186Phe) rs372718547 0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) rs782393829 0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) rs1569552105 0.00001
NM_000117.3(EMD):c.619C>T (p.Arg207Trp) rs2067885563 0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln) rs782352489 0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys) rs782193940 0.00001
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser) rs782208090 0.00001
NM_000257.4(MYH7):c.*81G>A rs938515730 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn) rs780785242 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr) rs775089432 0.00001
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser) rs1174863002 0.00001
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val) rs1339799654 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met) rs772442923 0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile) rs1343088568 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr) rs750204313 0.00001
NM_000257.4(MYH7):c.268A>G (p.Met90Val) rs769054108 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 0.00001
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) rs1298804415 0.00001
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu) rs730880762 0.00001
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe) rs768312155 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr) rs763564858 0.00001
NM_000257.4(MYH7):c.3245+2T>G rs113859723 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr) rs774812187 0.00001
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr) rs1487430775 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr) rs397516198 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys) rs1275262402 0.00001
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile) rs730880795 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) rs730880806 0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) rs1257980330 0.00001
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) rs730880809 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.493A>G (p.Met165Val) rs730880839 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) rs1358888752 0.00001
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys) rs730880915 0.00001
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His) rs772008016 0.00001
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=) rs769875223 0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) rs144066768 0.00001
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp) rs149509691 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp) rs748598020 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp) rs376668612 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala) rs1295948508 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr) rs747451109 0.00001
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His) rs752553589 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.639+13C>T rs1346778409 0.00001
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln) rs1169518192 0.00001
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803 0.00001
NM_000257.4(MYH7):c.801T>C (p.Leu267=) rs1171861442 0.00001
NM_000257.4(MYH7):c.969T>G (p.Ile323Met) rs730880861 0.00001
NM_001130965.3(SUN1):c.1018A>G (p.Lys340Glu) rs770728287 0.00001
NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr) rs1402655652 0.00001
NM_001130965.3(SUN1):c.1075T>G (p.Trp359Gly) rs1824104633 0.00001
NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe) rs779987779 0.00001
NM_001130965.3(SUN1):c.1195C>T (p.Gln399Ter) rs1287838591 0.00001
NM_001130965.3(SUN1):c.1270T>C (p.Phe424Leu) rs548117640 0.00001
NM_001130965.3(SUN1):c.1400T>C (p.Val467Ala) rs1191867046 0.00001
NM_001130965.3(SUN1):c.1483G>A (p.Val495Met) rs750763397 0.00001
NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp) rs1019819580 0.00001
NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys) rs549897796 0.00001
NM_001130965.3(SUN1):c.1634G>T (p.Gly545Val) rs751586546 0.00001
NM_001130965.3(SUN1):c.1679G>A (p.Arg560Gln) rs374707736 0.00001
NM_001130965.3(SUN1):c.1696G>A (p.Val566Ile) rs910379771 0.00001
NM_001130965.3(SUN1):c.16C>A (p.Leu6Ile) rs777969470 0.00001
NM_001130965.3(SUN1):c.1749C>T (p.Ser583=) rs780539401 0.00001
NM_001130965.3(SUN1):c.189C>T (p.Cys63=) rs764562577 0.00001
NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu) rs747017149 0.00001
NM_001130965.3(SUN1):c.2140G>A (p.Ala714Thr) rs759639292 0.00001
NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn) rs768700424 0.00001
NM_001130965.3(SUN1):c.2281C>T (p.Arg761Trp) rs769875681 0.00001
NM_001130965.3(SUN1):c.2348C>A (p.Pro783His) rs755364227 0.00001
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr) rs775882448 0.00001
NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg) rs1203009448 0.00001
NM_001130965.3(SUN1):c.346G>A (p.Val116Ile) rs374613091 0.00001
NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr) rs1320668240 0.00001
NM_001130965.3(SUN1):c.536C>T (p.Ala179Val) rs368473097 0.00001
NM_001130965.3(SUN1):c.592C>T (p.Leu198Phe) rs778995671 0.00001
NM_001130965.3(SUN1):c.607G>A (p.Ala203Thr) rs370867004 0.00001
NM_001130965.3(SUN1):c.616G>A (p.Gly206Arg) rs375261890 0.00001
NM_001130965.3(SUN1):c.656A>T (p.Lys219Ile) rs774555940 0.00001
NM_001130965.3(SUN1):c.682C>T (p.Arg228Cys) rs772936422 0.00001
NM_001130965.3(SUN1):c.767C>T (p.Ala256Val) rs775206908 0.00001
NM_001130965.3(SUN1):c.773G>T (p.Gly258Val) rs1423385703 0.00001
NM_001130965.3(SUN1):c.815C>G (p.Thr272Ser) rs565641706 0.00001
NM_001130965.3(SUN1):c.852-7C>G rs372242822 0.00001
NM_001130965.3(SUN1):c.914G>A (p.Gly305Asp) rs781390393 0.00001
NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser) rs768858283 0.00001
NM_001130965.3(SUN1):c.938A>G (p.Asn313Ser) rs774636827 0.00001
NM_001130965.3(SUN1):c.947C>T (p.Ser316Leu) rs1445945190 0.00001
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg) rs1187549360 0.00001
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser) rs772911535 0.00001
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg) rs1226091388 0.00001
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu) rs754421860 0.00001
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val) rs372301312 0.00001
NM_001159699.2(FHL1):c.204+6G>A rs763404867 0.00001
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile) rs746834335 0.00001
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser) rs1375411779 0.00001
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr) rs1457366238 0.00001
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg) rs191071512 0.00001
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) rs1157004659 0.00001
NM_001159699.2(FHL1):c.499G>A (p.Val167Met) rs1332573754 0.00001
NM_001159699.2(FHL1):c.549+5G>A rs747714932 0.00001
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val) rs753677369 0.00001
NM_001159699.2(FHL1):c.579G>C (p.Gln193His) rs2073910764 0.00001
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu) rs1300278653 0.00001
NM_001159699.2(FHL1):c.728C>A (p.Pro243His) rs746311721 0.00001
NM_001159699.2(FHL1):c.737-2dup rs752156219 0.00001
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser) rs1161827184 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe) rs760214177 0.00001
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln) rs199818971 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu) rs372305836 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_015374.3(SUN2):c.109G>A (p.Asp37Asn) rs569556638 0.00001
NM_015374.3(SUN2):c.1153G>A (p.Glu385Lys) rs1451970985 0.00001
NM_015374.3(SUN2):c.1270G>A (p.Glu424Lys) rs370825322 0.00001
NM_015374.3(SUN2):c.1373C>T (p.Pro458Leu) rs781480505 0.00001
NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly) rs1417867039 0.00001
NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg) rs758076166 0.00001
NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs) rs1284194276 0.00001
NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys) rs1370457089 0.00001
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln) rs1446967356 0.00001
NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln) rs1285036282 0.00001
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg) rs1486287848 0.00001
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr) rs559096453 0.00001
NM_015374.3(SUN2):c.247A>G (p.Arg83Gly) rs1474913633 0.00001
NM_015374.3(SUN2):c.269A>G (p.His90Arg) rs2092943342 0.00001
NM_015374.3(SUN2):c.282C>A (p.Asn94Lys) rs750454076 0.00001
NM_015374.3(SUN2):c.361C>T (p.Arg121Cys) rs201794535 0.00001
NM_015374.3(SUN2):c.364A>G (p.Lys122Glu) rs746753110 0.00001
NM_015374.3(SUN2):c.41G>T (p.Gly14Val) rs1461986386 0.00001
NM_015374.3(SUN2):c.421G>A (p.Val141Met) rs1435451030 0.00001
NM_015374.3(SUN2):c.504G>A (p.Met168Ile) rs779478954 0.00001
NM_015374.3(SUN2):c.515C>T (p.Ser172Leu) rs760739182 0.00001
NM_015374.3(SUN2):c.549G>A (p.Trp183Ter) rs746473215 0.00001
NM_015374.3(SUN2):c.728C>T (p.Pro243Leu) rs2092899305 0.00001
NM_015374.3(SUN2):c.759C>G (p.Asp253Glu) rs375173070 0.00001
NM_015374.3(SUN2):c.77C>T (p.Ser26Leu) rs150683665 0.00001
NM_015374.3(SUN2):c.835C>T (p.Arg279Trp) rs1187777425 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 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.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 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.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 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.845G>A (p.Ser282Asn) rs1553265438 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_182914.3(SYNE2):c.*372T>C rs964393717 0.00001
NM_182914.3(SYNE2):c.*489C>A rs886050607 0.00001
NM_182914.3(SYNE2):c.*734T>A rs886050610 0.00001
NM_182914.3(SYNE2):c.-107G>A rs886050577 0.00001
NM_182914.3(SYNE2):c.10073T>G (p.Leu3358Arg) rs752681009 0.00001
NM_182914.3(SYNE2):c.10201G>C (p.Glu3401Gln) rs935239194 0.00001
NM_182914.3(SYNE2):c.10237A>T (p.Thr3413Ser) rs780825872 0.00001
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser) rs886285721 0.00001
NM_182914.3(SYNE2):c.10303G>T (p.Asp3435Tyr) rs931738357 0.00001
NM_182914.3(SYNE2):c.10308C>T (p.Gly3436=) rs1408955404 0.00001
NM_182914.3(SYNE2):c.10386G>A (p.Met3462Ile) rs780632525 0.00001
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu) rs557133901 0.00001
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr) rs765413747 0.00001
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg) rs759503520 0.00001
NM_182914.3(SYNE2):c.10910A>G (p.Asn3637Ser) rs753086381 0.00001
NM_182914.3(SYNE2):c.10990T>C (p.Cys3664Arg) rs372299859 0.00001
NM_182914.3(SYNE2):c.11023-24_11023-9del rs756704685 0.00001
NM_182914.3(SYNE2):c.11027G>A (p.Ser3676Asn) rs200505107 0.00001
NM_182914.3(SYNE2):c.11071A>G (p.Lys3691Glu) rs147104686 0.00001
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr) rs774045803 0.00001
NM_182914.3(SYNE2):c.11174A>G (p.Asp3725Gly) rs1595379549 0.00001
NM_182914.3(SYNE2):c.11389A>G (p.Thr3797Ala) rs1323998717 0.00001
NM_182914.3(SYNE2):c.11411C>G (p.Thr3804Ser) rs367893963 0.00001
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg) rs745526712 0.00001
NM_182914.3(SYNE2):c.11488G>T (p.Ala3830Ser) rs2097574430 0.00001
NM_182914.3(SYNE2):c.11508G>C (p.Gln3836His) rs1315959283 0.00001
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.11656C>G (p.Gln3886Glu) rs1235280357 0.00001
NM_182914.3(SYNE2):c.11660G>A (p.Arg3887Gln) rs181798411 0.00001
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu) rs1311942649 0.00001
NM_182914.3(SYNE2):c.11725A>C (p.Ile3909Leu) rs1484721302 0.00001
NM_182914.3(SYNE2):c.11879G>A (p.Gly3960Glu) rs775836079 0.00001
NM_182914.3(SYNE2):c.11905C>T (p.Arg3969Trp) rs141498263 0.00001
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys) rs779441612 0.00001
NM_182914.3(SYNE2):c.12118G>A (p.Glu4040Lys) rs1245656240 0.00001
NM_182914.3(SYNE2):c.12253G>T (p.Ala4085Ser) rs772564360 0.00001
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys) rs759668362 0.00001
NM_182914.3(SYNE2):c.12381+5G>A rs771680833 0.00001
NM_182914.3(SYNE2):c.12461G>A (p.Arg4154Lys) rs1455878545 0.00001
NM_182914.3(SYNE2):c.12510A>G (p.Ile4170Met) rs200113549 0.00001
NM_182914.3(SYNE2):c.12512G>A (p.Ser4171Asn) rs758662885 0.00001
NM_182914.3(SYNE2):c.12539T>G (p.Ile4180Ser) rs780306283 0.00001
NM_182914.3(SYNE2):c.12609+1G>A rs745516407 0.00001
NM_182914.3(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590 0.00001
NM_182914.3(SYNE2):c.12767A>G (p.Asn4256Ser) rs552966507 0.00001
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met) rs765323829 0.00001
NM_182914.3(SYNE2):c.12796G>A (p.Ala4266Thr) rs1316995826 0.00001
NM_182914.3(SYNE2):c.128C>T (p.Ser43Leu) rs754783984 0.00001
NM_182914.3(SYNE2):c.1298T>C (p.Leu433Pro) rs2096556875 0.00001
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala) rs776545846 0.00001
NM_182914.3(SYNE2):c.13160T>C (p.Val4387Ala) rs2097902343 0.00001
NM_182914.3(SYNE2):c.13180G>C (p.Glu4394Gln) rs757620618 0.00001
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr) rs761844853 0.00001
NM_182914.3(SYNE2):c.13217C>T (p.Ala4406Val) rs1309450077 0.00001
NM_182914.3(SYNE2):c.13422+6T>C rs1451114476 0.00001
NM_182914.3(SYNE2):c.13459A>G (p.Met4487Val) rs370050400 0.00001
NM_182914.3(SYNE2):c.13463A>G (p.Tyr4488Cys) rs775876760 0.00001
NM_182914.3(SYNE2):c.13466A>G (p.Asn4489Ser) rs747349342 0.00001
NM_182914.3(SYNE2):c.13473A>G (p.Arg4491=) rs886042596 0.00001
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr) rs758884582 0.00001
NM_182914.3(SYNE2):c.13613T>A (p.Leu4538Gln) rs370464923 0.00001
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn) rs375241792 0.00001
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe) rs368105920 0.00001
NM_182914.3(SYNE2):c.13695_13707+2dup rs758985012 0.00001
NM_182914.3(SYNE2):c.13707+3A>G rs201254784 0.00001
NM_182914.3(SYNE2):c.13826A>C (p.Asn4609Thr) rs751525888 0.00001
NM_182914.3(SYNE2):c.1384A>G (p.Lys462Glu) rs753039223 0.00001
NM_182914.3(SYNE2):c.13880C>A (p.Ser4627Tyr) rs2097950027 0.00001
NM_182914.3(SYNE2):c.13964C>T (p.Ser4655Phe) rs758010581 0.00001
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln) rs188252400 0.00001
NM_182914.3(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592 0.00001
NM_182914.3(SYNE2):c.1417A>G (p.Ile473Val) rs755692006 0.00001
NM_182914.3(SYNE2):c.14196C>G (p.Ser4732Arg) rs749317592 0.00001
NM_182914.3(SYNE2):c.14251G>C (p.Val4751Leu) rs768078645 0.00001
NM_182914.3(SYNE2):c.14327T>C (p.Ile4776Thr) rs563179946 0.00001
NM_182914.3(SYNE2):c.1433T>A (p.Phe478Tyr) rs750998654 0.00001
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val) rs770006520 0.00001
NM_182914.3(SYNE2):c.14441A>C (p.Glu4814Ala) rs944539742 0.00001
NM_182914.3(SYNE2):c.14460A>C (p.Lys4820Asn) rs574306382 0.00001
NM_182914.3(SYNE2):c.1463A>G (p.Lys488Arg) rs1437677917 0.00001
NM_182914.3(SYNE2):c.14755G>A (p.Ala4919Thr) rs781072783 0.00001
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg) rs758936935 0.00001
NM_182914.3(SYNE2):c.14908T>C (p.Trp4970Arg) rs1442905244 0.00001
NM_182914.3(SYNE2):c.15057A>G (p.Lys5019=) rs778518604 0.00001
NM_182914.3(SYNE2):c.15159+4A>G rs749960169 0.00001
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967 0.00001
NM_182914.3(SYNE2):c.15206T>C (p.Ile5069Thr) rs200347797 0.00001
NM_182914.3(SYNE2):c.15385G>A (p.Asp5129Asn) rs931728993 0.00001
NM_182914.3(SYNE2):c.15395G>A (p.Ser5132Asn) rs765802633 0.00001
NM_182914.3(SYNE2):c.15404A>G (p.Tyr5135Cys) rs556819169 0.00001
NM_182914.3(SYNE2):c.15458G>A (p.Arg5153His) rs773752983 0.00001
NM_182914.3(SYNE2):c.15484-3T>C rs370197641 0.00001
NM_182914.3(SYNE2):c.15524G>C (p.Ser5175Thr) rs1277439274 0.00001
NM_182914.3(SYNE2):c.15659C>G (p.Ala5220Gly) rs765911639 0.00001
NM_182914.3(SYNE2):c.15700C>A (p.Leu5234Met) rs769634722 0.00001
NM_182914.3(SYNE2):c.15776G>A (p.Ser5259Asn) rs1168529666 0.00001
NM_182914.3(SYNE2):c.15788C>T (p.Thr5263Ile) rs566704933 0.00001
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744 0.00001
NM_182914.3(SYNE2):c.15869A>G (p.Asn5290Ser) rs374774137 0.00001
NM_182914.3(SYNE2):c.15872T>C (p.Met5291Thr) rs776578358 0.00001
NM_182914.3(SYNE2):c.16018G>T (p.Val5340Phe) rs200214648 0.00001
NM_182914.3(SYNE2):c.16087C>A (p.His5363Asn) rs1381652852 0.00001
NM_182914.3(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210 0.00001
NM_182914.3(SYNE2):c.1618C>A (p.Gln540Lys) rs768004294 0.00001
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16494G>C (p.Gln5498His) rs1158224543 0.00001
NM_182914.3(SYNE2):c.16513C>T (p.Arg5505Trp) rs767970692 0.00001
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly) rs765353232 0.00001
NM_182914.3(SYNE2):c.16602C>G (p.Phe5534Leu) rs748802577 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16631A>C (p.Gln5544Pro) rs753694030 0.00001
NM_182914.3(SYNE2):c.16687G>A (p.Val5563Ile) rs756909587 0.00001
NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662 0.00001
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln) rs143231145 0.00001
NM_182914.3(SYNE2):c.16771G>A (p.Gly5591Arg) rs979226241 0.00001
NM_182914.3(SYNE2):c.16775T>C (p.Ile5592Thr) rs779437989 0.00001
NM_182914.3(SYNE2):c.16844C>T (p.Ala5615Val) rs372515789 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17008T>A (p.Phe5670Ile) rs750982331 0.00001
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=) rs1450190172 0.00001
NM_182914.3(SYNE2):c.17183G>T (p.Gly5728Val) rs776657050 0.00001
NM_182914.3(SYNE2):c.17225A>G (p.His5742Arg) rs752227568 0.00001
NM_182914.3(SYNE2):c.17264G>A (p.Arg5755Gln) rs368893421 0.00001
NM_182914.3(SYNE2):c.17287G>A (p.Glu5763Lys) rs1315464944 0.00001
NM_182914.3(SYNE2):c.17334G>T (p.Glu5778Asp) rs1349823978 0.00001
NM_182914.3(SYNE2):c.17431-3T>C rs886050595 0.00001
NM_182914.3(SYNE2):c.17557-3C>T rs950834812 0.00001
NM_182914.3(SYNE2):c.17560C>A (p.Leu5854Ile) rs773797629 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.17978A>G (p.Asp5993Gly) rs2098511514 0.00001
NM_182914.3(SYNE2):c.17984A>T (p.Lys5995Met) rs1021795243 0.00001
NM_182914.3(SYNE2):c.18004C>T (p.Arg6002Cys) rs369083384 0.00001
NM_182914.3(SYNE2):c.18005G>A (p.Arg6002His) rs764566778 0.00001
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn) rs780648179 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg) rs145257568 0.00001
NM_182914.3(SYNE2):c.18038+5G>A rs1328692834 0.00001
NM_182914.3(SYNE2):c.18118C>T (p.Arg6040Ter) rs745320786 0.00001
NM_182914.3(SYNE2):c.18197A>G (p.Gln6066Arg) rs1185481033 0.00001
NM_182914.3(SYNE2):c.18283G>A (p.Asp6095Asn) rs1018261125 0.00001
NM_182914.3(SYNE2):c.18346C>T (p.Arg6116Cys) rs762858190 0.00001
NM_182914.3(SYNE2):c.1836+6T>G rs780035873 0.00001
NM_182914.3(SYNE2):c.1837G>A (p.Val613Ile) rs761093953 0.00001
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala) rs759557576 0.00001
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp) rs772056587 0.00001
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln) rs549549436 0.00001
NM_182914.3(SYNE2):c.18952G>C (p.Asp6318His) rs144627020 0.00001
NM_182914.3(SYNE2):c.19025G>A (p.Arg6342Gln) rs987547244 0.00001
NM_182914.3(SYNE2):c.19033C>T (p.Arg6345Trp) rs752861384 0.00001
NM_182914.3(SYNE2):c.19160C>T (p.Pro6387Leu) rs756722459 0.00001
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met) rs755527635 0.00001
NM_182914.3(SYNE2):c.19303G>A (p.Glu6435Lys) rs138111654 0.00001
NM_182914.3(SYNE2):c.19542T>C (p.Tyr6514=) rs904364473 0.00001
NM_182914.3(SYNE2):c.19589C>T (p.Pro6530Leu) rs750341136 0.00001
NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp) rs746433383 0.00001
NM_182914.3(SYNE2):c.19625G>A (p.Gly6542Glu) rs772447674 0.00001
NM_182914.3(SYNE2):c.19653G>C (p.Gln6551His) rs762848054 0.00001
NM_182914.3(SYNE2):c.19679T>C (p.Met6560Thr) rs1016791014 0.00001
NM_182914.3(SYNE2):c.19747A>G (p.Ile6583Val) rs771974044 0.00001
NM_182914.3(SYNE2):c.19892C>T (p.Ala6631Val) rs747881699 0.00001
NM_182914.3(SYNE2):c.199C>T (p.Leu67Phe) rs954752155 0.00001
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928 0.00001
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys) rs199800249 0.00001
NM_182914.3(SYNE2):c.20176C>T (p.Arg6726Trp) rs371271767 0.00001
NM_182914.3(SYNE2):c.20185C>G (p.Leu6729Val) rs771563821 0.00001
NM_182914.3(SYNE2):c.20216G>A (p.Arg6739His) rs532853602 0.00001
NM_182914.3(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599 0.00001
NM_182914.3(SYNE2):c.20284T>C (p.Cys6762Arg) rs1444525177 0.00001
NM_182914.3(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707 0.00001
NM_182914.3(SYNE2):c.20315T>C (p.Ile6772Thr) rs1474759634 0.00001
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg) rs751565440 0.00001
NM_182914.3(SYNE2):c.20399T>C (p.Leu6800Pro) rs763134759 0.00001
NM_182914.3(SYNE2):c.20428G>T (p.Asp6810Tyr) rs1370786771 0.00001
NM_182914.3(SYNE2):c.20435C>G (p.Pro6812Arg) rs749898798 0.00001
NM_182914.3(SYNE2):c.20452C>G (p.Pro6818Ala) rs777951739 0.00001
NM_182914.3(SYNE2):c.20519T>A (p.Val6840Asp) rs758858068 0.00001
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu) rs1323584158 0.00001
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe) rs548596262 0.00001
NM_182914.3(SYNE2):c.2152-3T>C rs754264426 0.00001
NM_182914.3(SYNE2):c.2234A>G (p.Gln745Arg) rs185674511 0.00001
NM_182914.3(SYNE2):c.2251G>T (p.Ala751Ser) rs773172045 0.00001
NM_182914.3(SYNE2):c.2260A>C (p.Lys754Gln) rs201892861 0.00001
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val) rs138419017 0.00001
NM_182914.3(SYNE2):c.2314-9T>C rs1351046607 0.00001
NM_182914.3(SYNE2):c.2348T>C (p.Leu783Pro) rs755334815 0.00001
NM_182914.3(SYNE2):c.2362G>A (p.Glu788Lys) rs767773345 0.00001
NM_182914.3(SYNE2):c.2522C>T (p.Ser841Leu) rs1483737214 0.00001
NM_182914.3(SYNE2):c.262T>C (p.Phe88Leu) rs978806035 0.00001
NM_182914.3(SYNE2):c.2781+4A>G rs1941605291 0.00001
NM_182914.3(SYNE2):c.2839G>A (p.Gly947Arg) rs1157242509 0.00001
NM_182914.3(SYNE2):c.28G>A (p.Glu10Lys) rs781375790 0.00001
NM_182914.3(SYNE2):c.2900T>C (p.Ile967Thr) rs1274813668 0.00001
NM_182914.3(SYNE2):c.2940G>A (p.Glu980=) rs559579030 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.3103G>A (p.Glu1035Lys) rs770698687 0.00001
NM_182914.3(SYNE2):c.3160A>G (p.Ile1054Val) rs773784466 0.00001
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro) rs2096727951 0.00001
NM_182914.3(SYNE2):c.3311T>C (p.Met1104Thr) rs778313924 0.00001
NM_182914.3(SYNE2):c.3325A>G (p.Ser1109Gly) rs982358351 0.00001
NM_182914.3(SYNE2):c.3491A>G (p.Asn1164Ser) rs1187492375 0.00001
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met) rs377084463 0.00001
NM_182914.3(SYNE2):c.3556G>T (p.Asp1186Tyr) rs898209839 0.00001
NM_182914.3(SYNE2):c.3613G>A (p.Glu1205Lys) rs375217349 0.00001
NM_182914.3(SYNE2):c.3639-1G>C rs1308678682 0.00001
NM_182914.3(SYNE2):c.3721C>G (p.Leu1241Val) rs765556164 0.00001
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585 0.00001
NM_182914.3(SYNE2):c.3951G>T (p.Arg1317Ser) rs911680539 0.00001
NM_182914.3(SYNE2):c.4126C>T (p.His1376Tyr) rs765665332 0.00001
NM_182914.3(SYNE2):c.4190C>T (p.Thr1397Ile) rs760136466 0.00001
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val) rs755316066 0.00001
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro) rs748414819 0.00001
NM_182914.3(SYNE2):c.4309A>G (p.Asn1437Asp) rs554653679 0.00001
NM_182914.3(SYNE2):c.4358T>C (p.Ile1453Thr) rs139513761 0.00001
NM_182914.3(SYNE2):c.4375A>T (p.Thr1459Ser) rs1482814444 0.00001
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg) rs374305796 0.00001
NM_182914.3(SYNE2):c.4849G>A (p.Glu1617Lys) rs780380973 0.00001
NM_182914.3(SYNE2):c.5084A>G (p.Glu1695Gly) rs746639416 0.00001
NM_182914.3(SYNE2):c.5096G>C (p.Arg1699Thr) rs776002336 0.00001
NM_182914.3(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587 0.00001
NM_182914.3(SYNE2):c.5389A>G (p.Met1797Val) rs199968665 0.00001
NM_182914.3(SYNE2):c.5410A>G (p.Ile1804Val) rs755788132 0.00001
NM_182914.3(SYNE2):c.5677C>G (p.Gln1893Glu) rs1170718601 0.00001
NM_182914.3(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121 0.00001
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln) rs765830189 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.5849A>T (p.Asp1950Val) rs1360576800 0.00001
NM_182914.3(SYNE2):c.586G>A (p.Ala196Thr) rs765480562 0.00001
NM_182914.3(SYNE2):c.6040G>T (p.Glu2014Ter) rs961554467 0.00001
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His) rs772510663 0.00001
NM_182914.3(SYNE2):c.605A>G (p.Asn202Ser) rs746518493 0.00001
NM_182914.3(SYNE2):c.6119C>T (p.Pro2040Leu) rs1277532834 0.00001
NM_182914.3(SYNE2):c.6194T>C (p.Met2065Thr) rs768853189 0.00001
NM_182914.3(SYNE2):c.6350C>T (p.Thr2117Ile) rs1258717242 0.00001
NM_182914.3(SYNE2):c.6370G>C (p.Asp2124His) rs764621284 0.00001
NM_182914.3(SYNE2):c.6404+5A>G rs571176673 0.00001
NM_182914.3(SYNE2):c.6429A>C (p.Glu2143Asp) rs1344690423 0.00001
NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile) rs767605722 0.00001
NM_182914.3(SYNE2):c.6764A>G (p.Gln2255Arg) rs750058499 0.00001
NM_182914.3(SYNE2):c.6799A>G (p.Asn2267Asp) rs961730782 0.00001
NM_182914.3(SYNE2):c.6994A>G (p.Ile2332Val) rs372848337 0.00001
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583 0.00001
NM_182914.3(SYNE2):c.7055A>T (p.Glu2352Val) rs752190689 0.00001
NM_182914.3(SYNE2):c.7093C>T (p.Arg2365Cys) rs781422804 0.00001
NM_182914.3(SYNE2):c.7139A>C (p.Lys2380Thr) rs1157953928 0.00001
NM_182914.3(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911 0.00001
NM_182914.3(SYNE2):c.7437A>T (p.Glu2479Asp) rs375700055 0.00001
NM_182914.3(SYNE2):c.7508A>G (p.Asn2503Ser) rs1160071284 0.00001
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser) rs763858839 0.00001
NM_182914.3(SYNE2):c.7573T>A (p.Phe2525Ile) rs202017993 0.00001
NM_182914.3(SYNE2):c.7694C>T (p.Ala2565Val) rs200447122 0.00001
NM_182914.3(SYNE2):c.7759C>G (p.His2587Asp) rs758573149 0.00001
NM_182914.3(SYNE2):c.8027A>G (p.Lys2676Arg) rs2097230580 0.00001
NM_182914.3(SYNE2):c.8030A>G (p.His2677Arg) rs777764821 0.00001
NM_182914.3(SYNE2):c.8077A>T (p.Ile2693Phe) rs746691289 0.00001
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val) rs759977701 0.00001
NM_182914.3(SYNE2):c.8249T>G (p.Leu2750Arg) rs750371615 0.00001
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417 0.00001
NM_182914.3(SYNE2):c.8364G>C (p.Glu2788Asp) rs1020192497 0.00001
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182 0.00001
NM_182914.3(SYNE2):c.8579G>C (p.Arg2860Thr) rs752110658 0.00001
NM_182914.3(SYNE2):c.8600A>C (p.Glu2867Ala) rs371387085 0.00001
NM_182914.3(SYNE2):c.860A>T (p.Asp287Val) rs1595894380 0.00001
NM_182914.3(SYNE2):c.8639C>G (p.Ser2880Cys) rs772011011 0.00001
NM_182914.3(SYNE2):c.8842T>C (p.Phe2948Leu) rs1274158681 0.00001
NM_182914.3(SYNE2):c.8903T>C (p.Leu2968Ser) rs2097237434 0.00001
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=) rs374756957 0.00001
NM_182914.3(SYNE2):c.9631G>T (p.Ala3211Ser) rs199853298 0.00001
NM_182914.3(SYNE2):c.9668C>T (p.Ala3223Val) rs781250830 0.00001
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797 0.00001
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552 0.00001
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr) rs780736831 0.00001
NM_182914.3(SYNE2):c.9779G>A (p.Arg3260His) rs532861539 0.00001
NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly) rs758226884 0.00001
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837 0.00001
NM_182914.3(SYNE2):c.9953G>A (p.Gly3318Glu) rs2097266908 0.00001
NM_182961.4(SYNE1):c.*138A>G rs2051574407 0.00001
NM_182961.4(SYNE1):c.*166G>A rs958754447 0.00001
NM_182961.4(SYNE1):c.*181C>T rs150886628 0.00001
NM_182961.4(SYNE1):c.*368T>C rs927168592 0.00001
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln) rs773410652 0.00001
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly) rs545457219 0.00001
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn) rs1221490895 0.00001
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln) rs368647352 0.00001
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys) rs1212823311 0.00001
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp) rs1289374962 0.00001
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser) rs372451128 0.00001
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val) rs1270266905 0.00001
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln) rs1255278240 0.00001
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile) rs886043016 0.00001
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=) rs1246237055 0.00001
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly) rs149532009 0.00001
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys) rs1485693688 0.00001
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln) rs751191478 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr) rs752209637 0.00001
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu) rs1301268425 0.00001
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser) rs1444678849 0.00001
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala) rs372327585 0.00001
NM_182961.4(SYNE1):c.1099C>T (p.His367Tyr) rs2098931321 0.00001
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn) rs761089261 0.00001
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn) rs780889581 0.00001
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp) rs572106956 0.00001
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met) rs1554518035 0.00001
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu) rs753931727 0.00001
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu) rs775097525 0.00001
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr) rs772794050 0.00001
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu) rs373095359 0.00001
NM_182961.4(SYNE1):c.1176G>A (p.Val392=) rs776130961 0.00001
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys) rs746532554 0.00001
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn) rs369515853 0.00001
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly) rs761744256 0.00001
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser) rs780777858 0.00001
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val) rs886044158 0.00001
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile) rs754971865 0.00001
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe) rs1294787806 0.00001
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly) rs767294741 0.00001
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala) rs770374751 0.00001
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser) rs1201675371 0.00001
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu) rs376766873 0.00001
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala) rs1449281199 0.00001
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met) rs2098918498 0.00001
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp) rs1459930095 0.00001
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val) rs769992083 0.00001
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln) rs2096324088 0.00001
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr) rs537532640 0.00001
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr) rs745331052 0.00001
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr) rs200140440 0.00001
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro) rs1384390262 0.00001
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn) rs757271177 0.00001
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu) rs751661906 0.00001
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys) rs752624372 0.00001
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys) rs752661205 0.00001
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg) rs543437113 0.00001
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His) rs34464554 0.00001
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His) rs779970152 0.00001
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val) rs1157664680 0.00001
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr) rs371405185 0.00001
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe) rs768553487 0.00001
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro) rs745789075 0.00001
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser) rs886042314 0.00001
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377 0.00001
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys) rs571224180 0.00001
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala) rs909205583 0.00001
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg) rs747550581 0.00001
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile) rs973116936 0.00001
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590 0.00001
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu) rs377099959 0.00001
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser) rs1362233016 0.00001
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu) rs374697325 0.00001
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu) rs1166869172 0.00001
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys) rs367979558 0.00001
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp) rs1469601635 0.00001
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn) rs765759628 0.00001
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile) rs952688216 0.00001
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr) rs759856569 0.00001
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu) rs141752799 0.00001
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn) rs763637795 0.00001
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu) rs750831528 0.00001
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu) rs764205112 0.00001
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=) rs758516967 0.00001
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg) rs1278211656 0.00001
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr) rs747838657 0.00001
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val) rs931699788 0.00001
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser) rs1237053788 0.00001
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp) rs1159750019 0.00001
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His) rs150266354 0.00001
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg) rs750417575 0.00001
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe) rs555355654 0.00001
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg) rs2096203231 0.00001
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr) rs1392726878 0.00001
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile) rs765961446 0.00001
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His) rs890021376 0.00001
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys) rs753602210 0.00001
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val) rs755539687 0.00001
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln) rs533927341 0.00001
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser) rs373690809 0.00001
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn) rs760935405 0.00001
NM_182961.4(SYNE1):c.15254T>C (p.Met5085Thr) rs750676780 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn) rs764169067 0.00001
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu) rs771550432 0.00001
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln) rs544309811 0.00001
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn) rs768676733 0.00001
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln) rs752229373 0.00001
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu) rs764500952 0.00001
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln) rs201750136 0.00001
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329 0.00001
NM_182961.4(SYNE1):c.15917+9G>A rs779265988 0.00001
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser) rs779313924 0.00001
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln) rs1233067296 0.00001
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp) rs575137601 0.00001
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val) rs1229397934 0.00001
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala) rs148295255 0.00001
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly) rs747824937 0.00001
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly) rs1021830711 0.00001
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp) rs769306377 0.00001
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala) rs1313738847 0.00001
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg) rs928178334 0.00001
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=) rs142010074 0.00001
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln) rs746879340 0.00001
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys) rs749088509 0.00001
NM_182961.4(SYNE1):c.169A>G (p.Met57Val) rs1031712545 0.00001
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys) rs1227780117 0.00001
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr) rs759609921 0.00001
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser) rs774018511 0.00001
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242 0.00001
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532 0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr) rs775815795 0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val) rs987594036 0.00001
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln) rs2095193468 0.00001
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile) rs766625615 0.00001
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile) rs1336941426 0.00001
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr) rs1043563187 0.00001
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys) rs753835774 0.00001
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr) rs375798794 0.00001
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del) rs2094716921 0.00001
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln) rs745822192 0.00001
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser) rs557248018 0.00001
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val) rs752183118 0.00001
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met) rs372219741 0.00001
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys) rs1279573379 0.00001
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile) rs899182753 0.00001
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val) rs549373990 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.18573+3G>A rs886044046 0.00001
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp) rs776024100 0.00001
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro) rs538161615 0.00001
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys) rs1270352436 0.00001
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro) rs371489057 0.00001
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys) rs139449273 0.00001
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His) rs752272082 0.00001
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu) rs141196768 0.00001
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala) rs965275563 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg) rs909589026 0.00001
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser) rs758337239 0.00001
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly) rs1398807335 0.00001
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln) rs943903359 0.00001
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn) rs376421422 0.00001
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe) rs1453005046 0.00001
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser) rs756816038 0.00001
NM_182961.4(SYNE1):c.19470+5G>A rs775233950 0.00001
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala) rs2088379630 0.00001
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln) rs1377270650 0.00001
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys) rs369420729 0.00001
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His) rs375565416 0.00001
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487 0.00001
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn) rs755573339 0.00001
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val) rs368088542 0.00001
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr) rs764885262 0.00001
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg) rs751964300 0.00001
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val) rs1483994641 0.00001
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg) rs769256850 0.00001
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val) rs532550838 0.00001
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe) rs1309947836 0.00001
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys) rs539439844 0.00001
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe) rs766238098 0.00001
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522 0.00001
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val) rs773506774 0.00001
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met) rs144417950 0.00001
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu) rs373012438 0.00001
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys) rs746823107 0.00001
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val) rs752179906 0.00001
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn) rs372288820 0.00001
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val) rs191912037 0.00001
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val) rs758767378 0.00001
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys) rs746477050 0.00001
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met) rs767422903 0.00001
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His) rs772675312 0.00001
NM_182961.4(SYNE1):c.21039+6C>G rs368575705 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro) rs772233604 0.00001
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile) rs757676303 0.00001
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly) rs755014049 0.00001
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val) rs749058571 0.00001
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg) rs769405487 0.00001
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala) rs1792916692 0.00001
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr) rs1257118792 0.00001
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val) rs763768133 0.00001
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser) rs1348902701 0.00001
NM_182961.4(SYNE1):c.21758C>T (p.Ser7253Leu) rs749718460 0.00001
NM_182961.4(SYNE1):c.21759G>A (p.Ser7253=) rs775672135 0.00001
NM_182961.4(SYNE1):c.21798G>C (p.Leu7266Phe) rs760237153 0.00001
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile) rs747185019 0.00001
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe) rs753138419 0.00001
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr) rs1029115177 0.00001
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile) rs938003229 0.00001
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys) rs751761981 0.00001
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His) rs748260996 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val) rs751450784 0.00001
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His) rs752421314 0.00001
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys) rs762050668 0.00001
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val) rs369260919 0.00001
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys) rs1383141765 0.00001
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg) rs1166773141 0.00001
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu) rs1215390720 0.00001
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met) rs1257304725 0.00001
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met) rs748623485 0.00001
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg) rs886042946 0.00001
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu) rs540603947 0.00001
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu) rs1434935687 0.00001
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu) rs776253447 0.00001
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala) rs1402188826 0.00001
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln) rs780964504 0.00001
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=) rs758511859 0.00001
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe) rs764300736 0.00001
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp) rs763100950 0.00001
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro) rs1350005154 0.00001
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile) rs750186803 0.00001
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln) rs1204207131 0.00001
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln) rs200066979 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala) rs374073415 0.00001
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys) rs1289070478 0.00001
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe) rs778500015 0.00001
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His) rs779568455 0.00001
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile) rs376844951 0.00001
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr) rs1391158473 0.00001
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln) rs1259951823 0.00001
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile) rs781532655 0.00001
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val) rs1249661326 0.00001
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe) rs1172072268 0.00001
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met) rs1399057012 0.00001
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys) rs1178007789 0.00001
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr) rs780744047 0.00001
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys) rs753219547 0.00001
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met) rs558928607 0.00001
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp) rs762991088 0.00001
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln) rs769773495 0.00001
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr) rs146463833 0.00001
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys) rs777371816 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu) rs1361081346 0.00001
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His) rs776221173 0.00001
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641 0.00001
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys) rs1380424994 0.00001
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His) rs1338634888 0.00001
NM_182961.4(SYNE1):c.24312+8C>G rs780026181 0.00001
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln) rs777435137 0.00001
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr) rs774707282 0.00001
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe) rs1389166406 0.00001
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His) rs775617906 0.00001
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr) rs2060075935 0.00001
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln) rs201193141 0.00001
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg) rs886042886 0.00001
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys) rs1480247904 0.00001
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His) rs777322468 0.00001
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg) rs1239507497 0.00001
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln) rs200684943 0.00001
NM_182961.4(SYNE1):c.25037G>A (p.Arg8346His) rs778080338 0.00001
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=) rs144685965 0.00001
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser) rs780271781 0.00001
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly) rs1306354261 0.00001
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly) rs200377339 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu) rs1253032018 0.00001
NM_182961.4(SYNE1):c.25508A>G (p.Asn8503Ser) rs756645782 0.00001
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp) rs375616724 0.00001
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln) rs370008122 0.00001
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His) rs759577495 0.00001
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala) rs746452797 0.00001
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp) rs764235096 0.00001
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg) rs529921934 0.00001
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile) rs1354935363 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val) rs1258380992 0.00001
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val) rs200178554 0.00001
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr) rs370566643 0.00001
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=) rs751355623 0.00001
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr) rs1229969547 0.00001
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys) rs149045775 0.00001
NM_182961.4(SYNE1):c.26001+4A>G rs746958913 0.00001
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn) rs753533241 0.00001
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln) rs147829200 0.00001
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser) rs773195787 0.00001
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln) rs758942329 0.00001
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn) rs767663894 0.00001
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe) rs751627369 0.00001
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His) rs1276774540 0.00001
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser) rs780574537 0.00001
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln) rs757466963 0.00001
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln) rs550697327 0.00001
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe) rs747405346 0.00001
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met) rs756888254 0.00001
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu) rs898451919 0.00001
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val) rs2099133562 0.00001
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln) rs1196383268 0.00001
NM_182961.4(SYNE1):c.2728-5T>A rs775558169 0.00001
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val) rs376880609 0.00001
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln) rs537794828 0.00001
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr) rs570242828 0.00001
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn) rs1374710512 0.00001
NM_182961.4(SYNE1):c.3028-4G>A rs1380560355 0.00001
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser) rs763255748 0.00001
NM_182961.4(SYNE1):c.310-469C>T rs762351812 0.00001
NM_182961.4(SYNE1):c.310-485A>G rs764771842 0.00001
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697 0.00001
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn) rs144982424 0.00001
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys) rs771821092 0.00001
NM_182961.4(SYNE1):c.3186+5G>A rs778578295 0.00001
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His) rs886061213 0.00001
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser) rs749547744 0.00001
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile) rs142734877 0.00001
NM_182961.4(SYNE1):c.3504+5G>A rs1398879746 0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869 0.00001
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe) rs1203451912 0.00001
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr) rs1226690928 0.00001
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln) rs370014940 0.00001
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met) rs767097288 0.00001
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly) rs908679898 0.00001
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp) rs745616824 0.00001
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr) rs1029244968 0.00001
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu) rs750865008 0.00001
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln) rs985588823 0.00001
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys) rs770015858 0.00001
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp) rs758427132 0.00001
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn) rs202235488 0.00001
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu) rs1302474521 0.00001
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu) rs767883709 0.00001
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys) rs1218913029 0.00001
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly) rs1289977041 0.00001
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala) rs577388500 0.00001
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His) rs1378400021 0.00001
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr) rs750659947 0.00001
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg) rs573641821 0.00001
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly) rs983431074 0.00001
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys) rs755101379 0.00001
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr) rs775729666 0.00001
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val) rs753598584 0.00001
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met) rs199797561 0.00001
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys) rs373448917 0.00001
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly) rs776344465 0.00001
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr) rs1554680800 0.00001
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro) rs1364310674 0.00001
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp) rs777175001 0.00001
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg) rs200766001 0.00001
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala) rs761352115 0.00001
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr) rs1481121106 0.00001
NM_182961.4(SYNE1):c.5421+5A>T rs755875029 0.00001
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe) rs746812274 0.00001
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp) rs1179461369 0.00001
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr) rs369176646 0.00001
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg) rs1483236627 0.00001
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe) rs761812821 0.00001
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala) rs773890189 0.00001
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser) rs750263410 0.00001
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val) rs746384499 0.00001
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile) rs1467783489 0.00001
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys) rs767563434 0.00001
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro) rs2098103147 0.00001
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys) rs746057788 0.00001
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser) rs754275815 0.00001
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg) rs1014104831 0.00001
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala) rs376472102 0.00001
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg) rs1183559257 0.00001
NM_182961.4(SYNE1):c.6723+5A>C rs755302313 0.00001
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr) rs371609288 0.00001
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr) rs758161551 0.00001
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly) rs777595583 0.00001
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu) rs752405422 0.00001
NM_182961.4(SYNE1):c.7030-4G>C rs112853992 0.00001
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys) rs780033455 0.00001
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His) rs554035671 0.00001
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser) rs140948068 0.00001
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu) rs969369417 0.00001
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val) rs750178248 0.00001
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp) rs773876679 0.00001
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser) rs748362030 0.00001
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly) rs1271079717 0.00001
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys) rs764800126 0.00001
NM_182961.4(SYNE1):c.7714G>A (p.Glu2572Lys) rs886061209 0.00001
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys) rs768574390 0.00001
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile) rs144069436 0.00001
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln) rs769840610 0.00001
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys) rs1186798259 0.00001
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys) rs754203591 0.00001
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn) rs775185806 0.00001
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp) rs770461993 0.00001
NM_182961.4(SYNE1):c.8004+5A>G rs746589347 0.00001
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn) rs1241632741 0.00001
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) rs794727764 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp) rs757720748 0.00001
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val) rs746752458 0.00001
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met) rs371229610 0.00001
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His) rs148998248 0.00001
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn) rs143313866 0.00001
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val) rs1202916520 0.00001
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val) rs753512972 0.00001
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn) rs766072795 0.00001
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys) rs760074927 0.00001
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser) rs200939886 0.00001
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala) rs2097290792 0.00001
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser) rs766846025 0.00001
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp) rs761071366 0.00001
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser) rs2097283921 0.00001
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr) rs1591443794 0.00001
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr) rs373615823 0.00001
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn) rs1484236534 0.00001
NM_182961.4(SYNE1):c.9507+6T>C rs372138410 0.00001
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys) rs761121679 0.00001
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr) rs1398398021 0.00001
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met) rs587777426 0.00001
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg) rs1295360409 0.00001
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val) rs774469372 0.00001
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe) rs770774159 0.00001
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu) rs559031643 0.00001
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn) rs1188481121 0.00001
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
NC_000006.11:g.(?_152443551)_(152534914_?)dup
NC_000006.11:g.(?_152527283)_(152532743_?)del
NC_000006.11:g.(?_152599204)_(152603135_?)dup
NC_000007.14:g.(?_832495)_(873341_?)dup
NC_000014.8:g.(?_64375867)_(64375965_?)del
NC_000014.8:g.(?_64443261)_(64444755_?)del
NC_000014.8:g.(?_64458032)_(64460645_?)del
NC_000014.8:g.(?_64481620)_(64489461_?)del
NC_000014.8:g.(?_64484293)_(64484494_?)del
NC_000014.8:g.(?_64568640)_(64568770_?)del
NC_000014.8:g.(?_64587625)_(64587799_?)del
NC_000022.10:g.(?_37154355)_(39148633_?)del
NC_000023.10:g.(?_135288556)_(135293528_?)dup
NC_000023.10:g.(?_135288592)_(135292184_?)dup
NC_000023.10:g.(?_135289169)_(135292189_?)dup
NC_000023.10:g.(?_152990712)_(153650075_?)dup
NC_000023.10:g.(?_153128108)_(153609567_?)dup
NC_000023.10:g.(?_153357622)_(153664237_?)dup
NC_000023.10:g.(?_153577211)_(153640295_?)dup
NC_000023.10:g.(?_153577217)_(153609557_?)dup
NC_000023.10:g.(?_153587342)_(153609567_?)dup
NC_000023.10:g.(?_153607835)_(153609567_?)dup
NC_000023.11:g.(?_136209233)_(136211369_?)del
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
NM_000117.3(EMD):c.115_117del (p.Phe39del) rs781959238
NM_000117.3(EMD):c.118G>C (p.Glu40Gln) rs2067875036
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
NM_000117.3(EMD):c.136C>T (p.Arg46Trp) rs2067875291
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys) rs2148128196
NM_000117.3(EMD):c.180C>G (p.Ser60Arg) rs2067875771
NM_000117.3(EMD):c.187+4A>T rs2148128205
NM_000117.3(EMD):c.187+5G>C
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000117.3(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.3(EMD):c.192G>C (p.Leu64Phe) rs782066603
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr) rs2148128314
NM_000117.3(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.3(EMD):c.218T>C (p.Met73Thr) rs2148128327
NM_000117.3(EMD):c.229C>T (p.Pro77Ser) rs1557182365
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000117.3(EMD):c.23C>T (p.Ser8Leu) rs869025400
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) rs2067879275
NM_000117.3(EMD):c.285T>C (p.Tyr95=) rs2148128483
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
NM_000117.3(EMD):c.317G>A (p.Gly106Glu) rs1312994862
NM_000117.3(EMD):c.31G>A (p.Glu11Lys) rs2148127965
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
NM_000117.3(EMD):c.343A>T (p.Arg115Trp) rs2067879939
NM_000117.3(EMD):c.350T>G (p.Val117Gly) rs781924971
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
NM_000117.3(EMD):c.37A>C (p.Thr13Pro) rs2148127968
NM_000117.3(EMD):c.399G>C (p.Gln133His)
NM_000117.3(EMD):c.400-3C>T
NM_000117.3(EMD):c.406G>A (p.Asp136Asn) rs869025401
NM_000117.3(EMD):c.411C>G (p.Asp137Glu) rs2148128718
NM_000117.3(EMD):c.413A>G (p.Asp138Gly) rs1212579575
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del) rs1557182551
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) rs2067882775
NM_000117.3(EMD):c.433G>A (p.Glu145Lys) rs2067882908
NM_000117.3(EMD):c.437A>G (p.Glu146Gly) rs2148128747
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.3(EMD):c.455G>A (p.Arg152His)
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.487A>G (p.Ser163Gly) rs1557182614
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
NM_000117.3(EMD):c.497A>G (p.His166Arg) rs1016943599
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.525C>G (p.Ser175Arg) rs782367505
NM_000117.3(EMD):c.52C>A (p.Arg18=) rs2148127991
NM_000117.3(EMD):c.533A>G (p.Asp178Gly) rs2067884448
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.547C>T (p.Pro183Ser) rs104894806
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.3(EMD):c.550_552del (p.Thr184del)
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) rs2067884874
NM_000117.3(EMD):c.578C>T (p.Ser193Phe) rs1220835396
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.618C>G (p.Ile206Met) rs782496874
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.3(EMD):c.623C>G (p.Pro208Arg) rs987808355
NM_000117.3(EMD):c.631C>G (p.Arg211Gly) rs782193940
NM_000117.3(EMD):c.641G>C (p.Gly214Ala) rs2148128967
NM_000117.3(EMD):c.651G>A (p.Leu217=) rs2067885915
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
NM_000117.3(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.3(EMD):c.662G>A (p.Arg221His) rs782057378
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
NM_000117.3(EMD):c.670C>T (p.Pro224Ser) rs1557182687
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
NM_000117.3(EMD):c.680_684del (p.Gly227fs) rs2148128987
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del) rs2067886222
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro) rs2067873549
NM_000117.3(EMD):c.69C>G (p.His23Gln)
NM_000117.3(EMD):c.706G>A (p.Val236Met)
NM_000117.3(EMD):c.709A>G (p.Ile237Val) rs2148129009
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.715C>T (p.Leu239Phe) rs2067886585
NM_000117.3(EMD):c.717_718del (p.Phe240fs) rs1603366041
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del) rs2148129019
NM_000117.3(EMD):c.725T>G (p.Ile242Ser) rs2067886717
NM_000117.3(EMD):c.730C>T (p.His244Tyr) rs2067886772
NM_000117.3(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.3(EMD):c.74C>G (p.Pro25Arg) rs2067873634
NM_000117.3(EMD):c.74C>T (p.Pro25Leu) rs2067873634
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.82+3A>G
NM_000117.3(EMD):c.82+4C>A rs376569563
NM_000117.3(EMD):c.82+4C>T
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.82G>C (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.83-6G>A
NM_000117.3(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.85T>C (p.Ser29Pro) rs2067874763
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
NM_000117.3(EMD):c.92G>T (p.Arg31Leu) rs2148128120
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val) rs730880873
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2053del (p.Asp685fs) rs1566532860
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr) rs769396106
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys) rs1427104281
NM_000257.4(MYH7):c.2424-7C>T rs759141144
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr) rs2138665874
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly) rs1236517740
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr) rs1566530777
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met) rs1892589863
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu) rs1350140484
NM_000257.4(MYH7):c.2877G>A (p.Leu959=) rs886039162
NM_000257.4(MYH7):c.2923-6C>A rs587781082
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) rs1892572355
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=) rs747004925
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu) rs1000681552
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg) rs763760498
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser) rs1555337299
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr) rs759256990
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His) rs375323916
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA rs1892420744
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=) rs1415340981
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn) rs730880780
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser) rs757538583
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=) rs137918672
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) rs1892274161
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) rs1555336580
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) rs730880804
NM_000257.4(MYH7):c.4644+5G>C rs730880797
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) rs1595073523
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly) rs1892196940
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4953+4C>T rs933520031
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) rs1892176969
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) rs1006534868
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.5361A>C (p.Glu1787Asp)
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly) rs145734640
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly) rs1595071680
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys) rs1057522617
NM_000257.4(MYH7):c.5655+4A>T
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile) rs2138635423
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=) rs148420672
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg) rs878853843
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.899T>C (p.Met300Thr) rs1892892787
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) rs771522982
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr) rs372731424
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe) rs1566536367
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu) rs1893043424
NM_001130965.3(SUN1):c.1010A>C (p.Asp337Ala)
NM_001130965.3(SUN1):c.1024A>G (p.Thr342Ala) rs1584895416
NM_001130965.3(SUN1):c.1028C>T (p.Thr343Ile) rs1006896977
NM_001130965.3(SUN1):c.1033C>T (p.Arg345Cys)
NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)
NM_001130965.3(SUN1):c.1106T>C (p.Val369Ala)
NM_001130965.3(SUN1):c.1123C>G (p.Gln375Glu) rs1824133471
NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)
NM_001130965.3(SUN1):c.1127G>A (p.Cys376Tyr)
NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)
NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)
NM_001130965.3(SUN1):c.1160C>A (p.Thr387Asn)
NM_001130965.3(SUN1):c.1205G>A (p.Gly402Asp) rs1554263579
NM_001130965.3(SUN1):c.1207G>A (p.Gly403Ser)
NM_001130965.3(SUN1):c.120C>G (p.His40Gln)
NM_001130965.3(SUN1):c.1220_1263+16del rs2128401073
NM_001130965.3(SUN1):c.1228T>G (p.Ser410Ala) rs770565376
NM_001130965.3(SUN1):c.1263+4G>A
NM_001130965.3(SUN1):c.1263+4G>C
NM_001130965.3(SUN1):c.1265C>G (p.Thr422Ser)
NM_001130965.3(SUN1):c.1275G>T (p.Met425Ile) rs1584946287
NM_001130965.3(SUN1):c.1300C>T (p.Arg434Cys)
NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)
NM_001130965.3(SUN1):c.1410G>C (p.Gln470His)
NM_001130965.3(SUN1):c.1420A>G (p.Thr474Ala) rs781596220
NM_001130965.3(SUN1):c.1435C>G (p.Gln479Glu)
NM_001130965.3(SUN1):c.1465C>G (p.Leu489Val)
NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)
NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)
NM_001130965.3(SUN1):c.14G>A (p.Arg5Gln)
NM_001130965.3(SUN1):c.1505T>C (p.Val502Ala) rs1829005584
NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)
NM_001130965.3(SUN1):c.1519G>C (p.Glu507Gln)
NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu) rs369720300
NM_001130965.3(SUN1):c.1549G>A (p.Val517Met)
NM_001130965.3(SUN1):c.1561T>G (p.Phe521Val) rs1366892549
NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)
NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg) rs549897796
NM_001130965.3(SUN1):c.1598T>A (p.Leu533Gln)
NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)
NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)
NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)
NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu) rs984369757
NM_001130965.3(SUN1):c.161G>A (p.Arg54His) rs772100423
NM_001130965.3(SUN1):c.1655G>A (p.Arg552Gln)
NM_001130965.3(SUN1):c.1659C>G (p.Asp553Glu) rs752578715
NM_001130965.3(SUN1):c.1666C>A (p.Leu556Met) rs777583914
NM_001130965.3(SUN1):c.1684G>A (p.Val562Ile) rs749673318
NM_001130965.3(SUN1):c.1691A>G (p.His564Arg)
NM_001130965.3(SUN1):c.1693C>A (p.His565Asn) rs1421142069
NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)
NM_001130965.3(SUN1):c.170G>A (p.Arg57His)
NM_001130965.3(SUN1):c.1715T>C (p.Leu572Pro)
NM_001130965.3(SUN1):c.1732G>A (p.Val578Met) rs201804636
NM_001130965.3(SUN1):c.1750G>A (p.Glu584Lys)
NM_001130965.3(SUN1):c.1753G>A (p.Ala585Thr)
NM_001130965.3(SUN1):c.1777G>T (p.Ala593Ser) rs952938105
NM_001130965.3(SUN1):c.1778C>T (p.Ala593Val)
NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)
NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)
NM_001130965.3(SUN1):c.1869C>T (p.Gly623=)
NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)
NM_001130965.3(SUN1):c.1906A>G (p.Thr636Ala) rs201361158
NM_001130965.3(SUN1):c.1913C>T (p.Thr638Met) rs539468692
NM_001130965.3(SUN1):c.1964C>T (p.Pro655Leu) rs1193272206
NM_001130965.3(SUN1):c.19C>T (p.His7Tyr)
NM_001130965.3(SUN1):c.200A>T (p.Asp67Val) rs371817690
NM_001130965.3(SUN1):c.2054T>A (p.Met685Lys) rs1839819500
NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)
NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)
NM_001130965.3(SUN1):c.2119A>G (p.Ser707Gly) rs373518804
NM_001130965.3(SUN1):c.2158A>G (p.Asn720Asp)
NM_001130965.3(SUN1):c.2161G>A (p.Glu721Lys)
NM_001130965.3(SUN1):c.2163G>C (p.Glu721Asp)
NM_001130965.3(SUN1):c.2229G>C (p.Met743Ile)
NM_001130965.3(SUN1):c.2269A>G (p.Ile757Val)
NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser) rs114826023
NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met) rs1221855051
NM_001130965.3(SUN1):c.2280_2281delinsAA (p.Leu760_Arg761=)
NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)
NM_001130965.3(SUN1):c.2331C>A (p.Phe777Leu)
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)
NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)
NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln) rs375668872
NM_001130965.3(SUN1):c.267-6del rs747866078
NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr) rs778427452
NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)
NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala) rs2128296982
NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)
NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu) rs781471011
NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)
NM_001130965.3(SUN1):c.398C>A (p.Pro133His) rs367835809
NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)
NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)
NM_001130965.3(SUN1):c.422G>A (p.Arg141His)
NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu) rs1810622107
NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)
NM_001130965.3(SUN1):c.461A>G (p.Asp154Gly)
NM_001130965.3(SUN1):c.470A>G (p.Asp157Gly) rs780997836
NM_001130965.3(SUN1):c.514G>A (p.Val172Met)
NM_001130965.3(SUN1):c.520GCC[5] (p.Ala177dup) rs1422408344
NM_001130965.3(SUN1):c.523G>A (p.Ala175Thr)
NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)
NM_001130965.3(SUN1):c.563G>A (p.Cys188Tyr)
NM_001130965.3(SUN1):c.569T>C (p.Met190Thr) rs932480227
NM_001130965.3(SUN1):c.577G>A (p.Glu193Lys)
NM_001130965.3(SUN1):c.604C>A (p.Pro202Thr) rs2128306216
NM_001130965.3(SUN1):c.613C>T (p.Pro205Ser) rs912561766
NM_001130965.3(SUN1):c.622G>T (p.Val208Leu) rs539058781
NM_001130965.3(SUN1):c.624_625insGGGTGCTCACGGCGCACCCCGCGGCCCCCGGGCCCGTG (p.Ser209fs)
NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)
NM_001130965.3(SUN1):c.659-2A>G
NM_001130965.3(SUN1):c.659-2A>T rs1329817920
NM_001130965.3(SUN1):c.671T>G (p.Leu224Arg) rs2128381511
NM_001130965.3(SUN1):c.676_686del (p.Ile226fs) rs774843286
NM_001130965.3(SUN1):c.679C>G (p.Leu227Val)
NM_001130965.3(SUN1):c.687G>T (p.Arg229Ser)
NM_001130965.3(SUN1):c.691G>C (p.Gly231Arg) rs753073325
NM_001130965.3(SUN1):c.697G>C (p.Val233Leu) rs377582591
NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly) rs879232845
NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)
NM_001130965.3(SUN1):c.722C>A (p.Ala241Glu)
NM_001130965.3(SUN1):c.739C>G (p.Leu247Val) rs1368322510
NM_001130965.3(SUN1):c.743C>G (p.Ala248Gly) rs1393440678
NM_001130965.3(SUN1):c.745G>A (p.Val249Met)
NM_001130965.3(SUN1):c.748G>T (p.Val250Phe) rs1562696580
NM_001130965.3(SUN1):c.77+1G>A rs1798962063
NM_001130965.3(SUN1):c.77+1del rs1272210110
NM_001130965.3(SUN1):c.78-19A>G
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu) rs2128387566
NM_001130965.3(SUN1):c.7T>C (p.Phe3Leu)
NM_001130965.3(SUN1):c.819G>T (p.Leu273Phe) rs2128387711
NM_001130965.3(SUN1):c.835G>C (p.Val279Leu) rs1241533008
NM_001130965.3(SUN1):c.851+5G>A
NM_001130965.3(SUN1):c.859C>T (p.Arg287Ter) rs961930316
NM_001130965.3(SUN1):c.860G>A (p.Arg287Gln)
NM_001130965.3(SUN1):c.865A>G (p.Ile289Val) rs758027769
NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)
NM_001130965.3(SUN1):c.904T>A (p.Leu302Ile)
NM_001130965.3(SUN1):c.910+2T>C rs1823355041
NM_001130965.3(SUN1):c.911-3T>C
NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)
NM_001130965.3(SUN1):c.945T>A (p.Phe315Leu) rs760512224
NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)
NM_001130965.3(SUN1):c.980A>G (p.His327Arg)
NM_001130965.3(SUN1):c.991C>T (p.Arg331Trp)
NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr) rs1569530250
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu) rs2148371771
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln) rs754421860
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg) rs2148371880
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr) rs1556638703
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser) rs1467233713
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe) rs1327221666
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys) rs1343871742
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn) rs2073861633
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg) rs2148373315
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) rs1603270381
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del) rs1237021594
NM_001159699.2(FHL1):c.301A>C (p.Asn101His) rs2073862975
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met) rs1311888697
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val) rs1556638919
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp) rs1277704131
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup) rs2073883748
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala) rs886042453
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg) rs1569530450
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu) rs1603271576
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly) rs878854460
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro) rs2148375919
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp) rs2073887416
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu) rs2073888626
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup) rs1314023088
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys) rs2148376111
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del) rs886044209
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser) rs2073890274
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly) rs122458144
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) rs377693754
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly) rs1556639237
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr) rs1569530504
NM_001159699.2(FHL1):c.549+3A>G
NM_001159699.2(FHL1):c.549+4T>C
NM_001159699.2(FHL1):c.549+4T>G
NM_001159699.2(FHL1):c.550-13C>G rs372709825
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg) rs2148378198
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp) rs2148378483
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys) rs1406462908
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly) rs2073912710
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu) rs2073841797
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg) rs915687031
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe) rs2073842039
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys) rs2073914454
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup) rs1569530609
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser) rs2073916017
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
NM_001159699.2(FHL1):c.736+3_736+4del
NM_001159699.2(FHL1):c.736+5G>T
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg) rs2148371530
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg) rs1389916579
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr) rs1569530811
NM_001159699.2(FHL1):c.786C>A (p.His262Gln) rs141231353
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr) rs56391414
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) rs56391414
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr) rs1569530823
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg) rs1569530825
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr) rs869025431
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr) rs2073964922
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu) rs190006104
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val) rs2148383784
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser) rs2148383804
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
NM_001159699.2(FHL1):c.847C>A (p.His283Asn) rs2148383871
NM_001159699.2(FHL1):c.852G>C (p.Gln284His) rs774024150
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly) rs2073967346
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser) rs1603273709
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe) rs1603273709
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser) rs1039991254
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr) rs2073968496
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile) rs1389837024
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_001449.4(FHL1):c.157-?_*1334+?dup
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_015374.3(SUN2):c.1013G>A (p.Arg338His)
NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)
NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)
NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)
NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)
NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)
NM_015374.3(SUN2):c.1072G>C (p.Glu358Gln) rs2092858191
NM_015374.3(SUN2):c.1081G>T (p.Ala361Ser) rs2092858095
NM_015374.3(SUN2):c.1090G>C (p.Ala364Pro) rs2145970738
NM_015374.3(SUN2):c.1110AGA[1] (p.Glu371del) rs1448167208
NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)
NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)
NM_015374.3(SUN2):c.1146+3C>A rs2092857349
NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)
NM_015374.3(SUN2):c.1190+4C>A
NM_015374.3(SUN2):c.1191-3C>T rs2145957103
NM_015374.3(SUN2):c.1251G>C (p.Gln417His)
NM_015374.3(SUN2):c.1261C>G (p.Leu421Val) rs780688397
NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)
NM_015374.3(SUN2):c.1345G>C (p.Val449Leu) rs117350165
NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)
NM_015374.3(SUN2):c.1352A>G (p.Asp451Gly) rs2092844667
NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)
NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)
NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)
NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)
NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)
NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)
NM_015374.3(SUN2):c.1421_1429del (p.Gly474_Gln477delinsGlu) rs2145950062
NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
NM_015374.3(SUN2):c.154C>T (p.Arg52Cys)
NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)
NM_015374.3(SUN2):c.1579-16G>A
NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)
NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)
NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys) rs2092835149
NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)
NM_015374.3(SUN2):c.1663+4C>G
NM_015374.3(SUN2):c.1663+5G>A
NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)
NM_015374.3(SUN2):c.167C>T (p.Ala56Val)
NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys) rs1352285124
NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)
NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)
NM_015374.3(SUN2):c.1797C>T (p.Gly599=) rs749129041
NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr) rs1384723835
NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala) rs949979981
NM_015374.3(SUN2):c.182C>T (p.Pro61Leu)
NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)
NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)
NM_015374.3(SUN2):c.1841G>A (p.Arg614His)
NM_015374.3(SUN2):c.185C>G (p.Ser62Cys)
NM_015374.3(SUN2):c.1886T>C (p.Val629Ala) rs2092828049
NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr) rs1021027363
NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys) rs2092827661
NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)
NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)
NM_015374.3(SUN2):c.19C>T (p.Arg7Cys)
NM_015374.3(SUN2):c.2013C>T (p.Gly671=)
NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)
NM_015374.3(SUN2):c.2032C>T (p.His678Tyr) rs771616583
NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT
NM_015374.3(SUN2):c.2040+5G>A
NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)
NM_015374.3(SUN2):c.2053del (p.Ala685fs) rs1264903354
NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)
NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln) rs137996727
NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)
NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)
NM_015374.3(SUN2):c.20G>A (p.Arg7His)
NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)
NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)
NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)
NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys) rs2092804001
NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)
NM_015374.3(SUN2):c.2151C>A (p.His717Gln) rs917841252
NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)
NM_015374.3(SUN2):c.229G>A (p.Glu77Lys)
NM_015374.3(SUN2):c.245C>A (p.Pro82His) rs2092943711
NM_015374.3(SUN2):c.254C>A (p.Ser85Tyr)
NM_015374.3(SUN2):c.286+3G>C rs539528181
NM_015374.3(SUN2):c.299G>A (p.Arg100Gln)
NM_015374.3(SUN2):c.306GAG[2] (p.Arg105del) rs774003824
NM_015374.3(SUN2):c.309G>T (p.Arg103Ser)
NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)
NM_015374.3(SUN2):c.320C>G (p.Thr107Arg) rs775966191
NM_015374.3(SUN2):c.415G>A (p.Asp139Asn) rs764864329
NM_015374.3(SUN2):c.425-3C>T rs368321480
NM_015374.3(SUN2):c.437T>C (p.Val146Ala)
NM_015374.3(SUN2):c.437T>G (p.Val146Gly) rs777319339
NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)
NM_015374.3(SUN2):c.451T>G (p.Ser151Ala)
NM_015374.3(SUN2):c.452C>G (p.Ser151Cys)
NM_015374.3(SUN2):c.460C>T (p.Arg154Trp) rs150906372
NM_015374.3(SUN2):c.470G>A (p.Ser157Asn) rs1556013290
NM_015374.3(SUN2):c.482G>A (p.Arg161Gln)
NM_015374.3(SUN2):c.520G>C (p.Gly174Arg) rs1390604251
NM_015374.3(SUN2):c.539T>C (p.Leu180Pro) rs2092930754
NM_015374.3(SUN2):c.550G>T (p.Ala184Ser) rs2092930608
NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)
NM_015374.3(SUN2):c.55AGC[3] (p.Ser22del) rs781129819
NM_015374.3(SUN2):c.569G>T (p.Arg190Leu) rs149088273
NM_015374.3(SUN2):c.614+3G>A rs2146065638
NM_015374.3(SUN2):c.617G>T (p.Arg206Leu) rs568825133
NM_015374.3(SUN2):c.671C>T (p.Thr224Met)
NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)
NM_015374.3(SUN2):c.736G>A (p.Val246Ile)
NM_015374.3(SUN2):c.74G>A (p.Ser25Asn)
NM_015374.3(SUN2):c.752C>G (p.Ala251Gly) rs1051031562
NM_015374.3(SUN2):c.752C>T (p.Ala251Val)
NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)
NM_015374.3(SUN2):c.791G>A (p.Arg264Lys) rs901495726
NM_015374.3(SUN2):c.799T>C (p.Ser267Pro)
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
NM_015374.3(SUN2):c.874G>A (p.Ala292Thr) rs2145981465
NM_015374.3(SUN2):c.920G>A (p.Arg307His)
NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)
NM_015374.3(SUN2):c.92A>G (p.Gln31Arg)
NM_015374.3(SUN2):c.952G>A (p.Gly318Arg) rs762660159
NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)
NM_015374.3(SUN2):c.989C>T (p.Ala330Val) rs564884199
NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_033071.3(SYNE1):c.17995_17997delGAG
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly) rs1449688220
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
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.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1412G>C (p.Arg471Pro) rs267607578
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1685T>C (p.Leu562Pro)
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
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.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
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.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.3(SYNE2):c.*145C>A rs886050602
NM_182914.3(SYNE2):c.*149G>C rs886050603
NM_182914.3(SYNE2):c.*219T>G rs886050604
NM_182914.3(SYNE2):c.*359A>C rs886050606
NM_182914.3(SYNE2):c.*521A>G rs2098717089
NM_182914.3(SYNE2):c.*574A>G rs954643801
NM_182914.3(SYNE2):c.*695T>G rs886050608
NM_182914.3(SYNE2):c.*732G>A rs886050609
NM_182914.3(SYNE2):c.*819G>A rs1300953935
NM_182914.3(SYNE2):c.*820T>G rs941392635
NM_182914.3(SYNE2):c.*824G>A rs2098718315
NM_182914.3(SYNE2):c.-149G>A rs926052381
NM_182914.3(SYNE2):c.-52G>A rs1393089319
NM_182914.3(SYNE2):c.10016A>G (p.Lys3339Arg)
NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)
NM_182914.3(SYNE2):c.10031A>C (p.Lys3344Thr)
NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)
NM_182914.3(SYNE2):c.10051G>A (p.Glu3351Lys)
NM_182914.3(SYNE2):c.10067+3A>G
NM_182914.3(SYNE2):c.10067+6T>C
NM_182914.3(SYNE2):c.10070A>G (p.Tyr3357Cys) rs1034591406
NM_182914.3(SYNE2):c.1008G>T (p.Met336Ile)
NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)
NM_182914.3(SYNE2):c.10130A>G (p.Lys3377Arg) rs1182521156
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
NM_182914.3(SYNE2):c.10233A>G (p.Ile3411Met) rs751265049
NM_182914.3(SYNE2):c.10242A>C (p.Lys3414Asn) rs2153592645
NM_182914.3(SYNE2):c.10246G>A (p.Glu3416Lys)
NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)
NM_182914.3(SYNE2):c.10267A>T (p.Ile3423Phe) rs779367486
NM_182914.3(SYNE2):c.10294A>C (p.Thr3432Pro)
NM_182914.3(SYNE2):c.10310T>C (p.Ile3437Thr)
NM_182914.3(SYNE2):c.10327G>T (p.Val3443Leu) rs564182126
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg) rs375398029
NM_182914.3(SYNE2):c.10348T>G (p.Trp3450Gly) rs375398029
NM_182914.3(SYNE2):c.10367C>A (p.Ala3456Asp) rs1423700005
NM_182914.3(SYNE2):c.10370C>T (p.Ala3457Val) rs2153592805
NM_182914.3(SYNE2):c.10372A>G (p.Lys3458Glu) rs1464529475
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg) rs1369723578
NM_182914.3(SYNE2):c.10427A>G (p.Glu3476Gly) rs866558509
NM_182914.3(SYNE2):c.10431+4A>C
NM_182914.3(SYNE2):c.10431+6T>A rs2097353192
NM_182914.3(SYNE2):c.10431A>G (p.Glu3477=)
NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)
NM_182914.3(SYNE2):c.10447A>G (p.Ile3483Val)
NM_182914.3(SYNE2):c.10480G>C (p.Glu3494Gln) rs752056288
NM_182914.3(SYNE2):c.10490A>G (p.Lys3497Arg) rs2153599582
NM_182914.3(SYNE2):c.10502C>T (p.Ala3501Val) rs1042324901
NM_182914.3(SYNE2):c.10508C>T (p.Thr3503Ile) rs1567208804
NM_182914.3(SYNE2):c.10516_10517insTG (p.Glu3506fs)
NM_182914.3(SYNE2):c.10552G>A (p.Gly3518Arg) rs1555462898
NM_182914.3(SYNE2):c.1055T>C (p.Ile352Thr)
NM_182914.3(SYNE2):c.10566G>T (p.Glu3522Asp)
NM_182914.3(SYNE2):c.10583T>C (p.Leu3528Pro)
NM_182914.3(SYNE2):c.10598A>G (p.Gln3533Arg) rs2153599656
NM_182914.3(SYNE2):c.10601G>A (p.Arg3534His)
NM_182914.3(SYNE2):c.10610G>T (p.Ser3537Ile) rs2097400006
NM_182914.3(SYNE2):c.10636G>C (p.Gly3546Arg)
NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)
NM_182914.3(SYNE2):c.10645G>A (p.Glu3549Lys)
NM_182914.3(SYNE2):c.10669A>T (p.Ile3557Phe) rs2097400485
NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)
NM_182914.3(SYNE2):c.10688G>A (p.Arg3563Gln)
NM_182914.3(SYNE2):c.10697+4_10697+10del rs1430702045
NM_182914.3(SYNE2):c.10697+6A>G
NM_182914.3(SYNE2):c.10711G>C (p.Val3571Leu) rs2097435549
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
NM_182914.3(SYNE2):c.10809_10811del (p.Thr3604del)
NM_182914.3(SYNE2):c.10838A>G (p.Asp3613Gly)
NM_182914.3(SYNE2):c.1084G>T (p.Asp362Tyr) rs2153454333
NM_182914.3(SYNE2):c.10864G>T (p.Glu3622Ter) rs374132878
NM_182914.3(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.3(SYNE2):c.10924C>A (p.Leu3642Met) rs1595351833
NM_182914.3(SYNE2):c.10928G>A (p.Arg3643Gln) rs748433814
NM_182914.3(SYNE2):c.10935G>C (p.Lys3645Asn)
NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)
NM_182914.3(SYNE2):c.1094A>T (p.Gln365Leu)
NM_182914.3(SYNE2):c.10976C>T (p.Ser3659Phe)
NM_182914.3(SYNE2):c.10987G>T (p.Glu3663Ter) rs2153606081
NM_182914.3(SYNE2):c.10990T>A (p.Cys3664Ser) rs372299859
NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)
NM_182914.3(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.3(SYNE2):c.11023-14T>C rs2097488518
NM_182914.3(SYNE2):c.11023A>T (p.Ile3675Phe)
NM_182914.3(SYNE2):c.11043A>C (p.Lys3681Asn)
NM_182914.3(SYNE2):c.1111G>T (p.Asp371Tyr)
NM_182914.3(SYNE2):c.11138T>G (p.Ile3713Ser) rs201740276
NM_182914.3(SYNE2):c.11139T>G (p.Ile3713Met) rs755177395
NM_182914.3(SYNE2):c.11157_11163+7del rs2097489968
NM_182914.3(SYNE2):c.11159A>G (p.Gln3720Arg)
NM_182914.3(SYNE2):c.11163G>A (p.Lys3721=) rs2153609576
NM_182914.3(SYNE2):c.11168T>C (p.Met3723Thr)
NM_182914.3(SYNE2):c.1117C>G (p.Leu373Val)
NM_182914.3(SYNE2):c.11182G>A (p.Asp3728Asn) rs2097511455
NM_182914.3(SYNE2):c.11255C>G (p.Ala3752Gly) rs1435842315
NM_182914.3(SYNE2):c.11259A>C (p.Gln3753His) rs1226574131
NM_182914.3(SYNE2):c.1129-3C>A
NM_182914.3(SYNE2):c.1129-4_1129-3del rs886050578
NM_182914.3(SYNE2):c.11297A>G (p.Tyr3766Cys) rs2097512603
NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)
NM_182914.3(SYNE2):c.11327G>A (p.Arg3776Lys)
NM_182914.3(SYNE2):c.1133A>G (p.Asn378Ser)
NM_182914.3(SYNE2):c.11342A>G (p.Asn3781Ser) rs746603645
NM_182914.3(SYNE2):c.11346+4T>A rs1039538127
NM_182914.3(SYNE2):c.11346+6G>A
NM_182914.3(SYNE2):c.11367A>C (p.Glu3789Asp) rs762999027
NM_182914.3(SYNE2):c.11390C>T (p.Thr3797Ile)
NM_182914.3(SYNE2):c.113C>T (p.Thr38Met)
NM_182914.3(SYNE2):c.11410A>G (p.Thr3804Ala)
NM_182914.3(SYNE2):c.11411C>T (p.Thr3804Ile)
NM_182914.3(SYNE2):c.11446T>C (p.Ser3816Pro)
NM_182914.3(SYNE2):c.11462G>A (p.Ser3821Asn) rs1555469449
NM_182914.3(SYNE2):c.11484+1G>T
NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)
NM_182914.3(SYNE2):c.114G>A (p.Thr38=) rs369020126
NM_182914.3(SYNE2):c.11531T>A (p.Ile3844Asn) rs566279122
NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.11557A>G (p.Ile3853Val)
NM_182914.3(SYNE2):c.11592A>G (p.Ile3864Met)
NM_182914.3(SYNE2):c.11608C>G (p.Gln3870Glu)
NM_182914.3(SYNE2):c.11609A>G (p.Gln3870Arg)
NM_182914.3(SYNE2):c.11615C>T (p.Thr3872Ile) rs1595432634
NM_182914.3(SYNE2):c.11637G>C (p.Met3879Ile)
NM_182914.3(SYNE2):c.11641A>T (p.Ser3881Cys) rs2153622293
NM_182914.3(SYNE2):c.11645_11647dup (p.Leu3882dup) rs2153622305
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His) rs2097575346
NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)
NM_182914.3(SYNE2):c.11704A>C (p.Met3902Leu)
NM_182914.3(SYNE2):c.11704A>G (p.Met3902Val) rs909725905
NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)
NM_182914.3(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.3(SYNE2):c.11729A>T (p.Lys3910Ile) rs142616444
NM_182914.3(SYNE2):c.1177C>T (p.His393Tyr) rs2096545410
NM_182914.3(SYNE2):c.11798T>C (p.Ile3933Thr) rs752738016
NM_182914.3(SYNE2):c.11807A>G (p.Asn3936Ser)
NM_182914.3(SYNE2):c.11812C>T (p.Arg3938Cys)
NM_182914.3(SYNE2):c.11834C>T (p.Ala3945Val) rs756937805
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met) rs758155150
NM_182914.3(SYNE2):c.11855T>A (p.Val3952Glu)
NM_182914.3(SYNE2):c.11873A>G (p.Gln3958Arg)
NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)
NM_182914.3(SYNE2):c.11881A>C (p.Met3961Leu)
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.3(SYNE2):c.11911A>G (p.Asn3971Asp)
NM_182914.3(SYNE2):c.11930_11932dup (p.Ile3977_Lys3978insIle)
NM_182914.3(SYNE2):c.11931A>G (p.Ile3977Met) rs1316072697
NM_182914.3(SYNE2):c.11950A>T (p.Thr3984Ser)
NM_182914.3(SYNE2):c.11976+5G>A rs772490248
NM_182914.3(SYNE2):c.11977-4A>G
NM_182914.3(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.3(SYNE2):c.11996A>G (p.Asn3999Ser) rs1232744942
NM_182914.3(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_182914.3(SYNE2):c.12014T>C (p.Ile4005Thr)
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.3(SYNE2):c.12057C>A (p.Phe4019Leu)
NM_182914.3(SYNE2):c.12061C>T (p.Leu4021Phe)
NM_182914.3(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=) rs755552590
NM_182914.3(SYNE2):c.12077C>G (p.Pro4026Arg) rs1009708251
NM_182914.3(SYNE2):c.12089_12096dup (p.Pro4033fs)
NM_182914.3(SYNE2):c.1209A>C (p.Glu403Asp)
NM_182914.3(SYNE2):c.12103C>G (p.Leu4035Val) rs1395737115
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr) rs2097691016
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg) rs2153635602
NM_182914.3(SYNE2):c.12209A>G (p.His4070Arg) rs2153635653
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)
NM_182914.3(SYNE2):c.12224AAG[1] (p.Glu4076del) rs748493867
NM_182914.3(SYNE2):c.12226G>A (p.Glu4076Lys) rs1567288490
NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)
NM_182914.3(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.3(SYNE2):c.12243T>A (p.Asp4081Glu)
NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)
NM_182914.3(SYNE2):c.12253G>A (p.Ala4085Thr) rs772564360
NM_182914.3(SYNE2):c.12254C>T (p.Ala4085Val) rs2153635686
NM_182914.3(SYNE2):c.12274G>A (p.Gly4092Arg)
NM_182914.3(SYNE2):c.12287G>A (p.Arg4096Lys)
NM_182914.3(SYNE2):c.12295T>C (p.Ser4099Pro)
NM_182914.3(SYNE2):c.12299A>C (p.Glu4100Ala) rs779963258
NM_182914.3(SYNE2):c.12299A>T (p.Glu4100Val)
NM_182914.3(SYNE2):c.12301C>T (p.Arg4101Trp)
NM_182914.3(SYNE2):c.12307-2A>G
NM_182914.3(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.3(SYNE2):c.12314G>A (p.Arg4105Lys) rs2097697463
NM_182914.3(SYNE2):c.12320G>C (p.Gly4107Ala)
NM_182914.3(SYNE2):c.12325A>G (p.Met4109Val) rs1296085055
NM_182914.3(SYNE2):c.12350A>G (p.Glu4117Gly)
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly) rs932903871
NM_182914.3(SYNE2):c.12370G>A (p.Val4124Met) rs370255444
NM_182914.3(SYNE2):c.1238C>A (p.Ser413Tyr)
NM_182914.3(SYNE2):c.12397G>C (p.Ala4133Pro) rs758104840
NM_182914.3(SYNE2):c.1240C>T (p.Gln414Ter)
NM_182914.3(SYNE2):c.12413A>T (p.Gln4138Leu)
NM_182914.3(SYNE2):c.12424T>A (p.Ser4142Thr)
NM_182914.3(SYNE2):c.12445G>T (p.Asp4149Tyr) rs1555485325
NM_182914.3(SYNE2):c.12457G>C (p.Asp4153His) rs1595531126
NM_182914.3(SYNE2):c.12470C>T (p.Ser4157Leu) rs1567303775
NM_182914.3(SYNE2):c.12475T>C (p.Ser4159Pro)
NM_182914.3(SYNE2):c.1247A>T (p.His416Leu)
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)
NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)
NM_182914.3(SYNE2):c.12508A>G (p.Ile4170Val) rs2153650321
NM_182914.3(SYNE2):c.1255G>A (p.Ala419Thr)
NM_182914.3(SYNE2):c.12569A>C (p.Gln4190Pro) rs1178890933
NM_182914.3(SYNE2):c.12609+1G>T rs745516407
NM_182914.3(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.3(SYNE2):c.12613A>C (p.Thr4205Pro) rs1421677072
NM_182914.3(SYNE2):c.12620C>T (p.Pro4207Leu)
NM_182914.3(SYNE2):c.12623C>T (p.Pro4208Leu)
NM_182914.3(SYNE2):c.12625A>G (p.Ile4209Val)
NM_182914.3(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.3(SYNE2):c.12647C>G (p.Ser4216Cys)
NM_182914.3(SYNE2):c.12655G>C (p.Ala4219Pro) rs138644399
NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)
NM_182914.3(SYNE2):c.12703A>G (p.Thr4235Ala) rs2153657597
NM_182914.3(SYNE2):c.12726G>T (p.Lys4242Asn)
NM_182914.3(SYNE2):c.12742C>G (p.Leu4248Val)
NM_182914.3(SYNE2):c.12747G>T (p.Glu4249Asp)
NM_182914.3(SYNE2):c.12757C>G (p.Gln4253Glu)
NM_182914.3(SYNE2):c.12764C>T (p.Ala4255Val)
NM_182914.3(SYNE2):c.12766A>C (p.Asn4256His)
NM_182914.3(SYNE2):c.12776T>C (p.Val4259Ala)
NM_182914.3(SYNE2):c.12799G>A (p.Asp4267Asn) rs1274566063
NM_182914.3(SYNE2):c.12840+12A>G rs886050591
NM_182914.3(SYNE2):c.12840+1G>A rs2097829846
NM_182914.3(SYNE2):c.1294-3C>T
NM_182914.3(SYNE2):c.12964G>T (p.Val4322Leu)
NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)
NM_182914.3(SYNE2):c.13001A>G (p.Gln4334Arg)
NM_182914.3(SYNE2):c.13015G>A (p.Glu4339Lys)
NM_182914.3(SYNE2):c.13020_13023+12delinsGATCT rs1555495562
NM_182914.3(SYNE2):c.13020_13023+9del
NM_182914.3(SYNE2):c.13022A>G (p.Gln4341Arg) rs773368959
NM_182914.3(SYNE2):c.13033A>G (p.Ile4345Val)
NM_182914.3(SYNE2):c.13128C>G (p.Phe4376Leu)
NM_182914.3(SYNE2):c.13141G>T (p.Asp4381Tyr) rs1595663501
NM_182914.3(SYNE2):c.13159G>A (p.Val4387Ile)
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu) rs764515386
NM_182914.3(SYNE2):c.13159G>T (p.Val4387Phe)
NM_182914.3(SYNE2):c.13188A>T (p.Lys4396Asn)
NM_182914.3(SYNE2):c.13234C>T (p.Gln4412Ter) rs1427446795
NM_182914.3(SYNE2):c.13291T>A (p.Ser4431Thr)
NM_182914.3(SYNE2):c.13312C>T (p.Pro4438Ser)
NM_182914.3(SYNE2):c.13335G>C (p.Gln4445His)
NM_182914.3(SYNE2):c.13366C>T (p.His4456Tyr)
NM_182914.3(SYNE2):c.13371T>G (p.His4457Gln) rs778640413
NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)
NM_182914.3(SYNE2):c.13423-5A>G rs2153670816
NM_182914.3(SYNE2):c.13453G>A (p.Val4485Met)
NM_182914.3(SYNE2):c.13467C>T (p.Asn4489=)
NM_182914.3(SYNE2):c.13489G>T (p.Glu4497Ter) rs1350663000
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.3(SYNE2):c.1352A>G (p.Asp451Gly)
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala) rs980737727
NM_182914.3(SYNE2):c.13554+3A>G
NM_182914.3(SYNE2):c.13554+6del rs772829991
NM_182914.3(SYNE2):c.13562T>C (p.Met4521Thr)
NM_182914.3(SYNE2):c.13576T>C (p.Tyr4526His)
NM_182914.3(SYNE2):c.13577A>G (p.Tyr4526Cys)
NM_182914.3(SYNE2):c.13583A>C (p.Asn4528Thr)
NM_182914.3(SYNE2):c.13583A>G (p.Asn4528Ser)
NM_182914.3(SYNE2):c.13588G>T (p.Asp4530Tyr)
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=) rs775368857
NM_182914.3(SYNE2):c.13645del (p.Glu4549fs) rs2097945797
NM_182914.3(SYNE2):c.13660C>G (p.Pro4554Ala)
NM_182914.3(SYNE2):c.13664G>C (p.Arg4555Thr)
NM_182914.3(SYNE2):c.13675G>A (p.Glu4559Lys)
NM_182914.3(SYNE2):c.13687G>C (p.Gly4563Arg) rs1595697916
NM_182914.3(SYNE2):c.13688G>A (p.Gly4563Asp) rs749516915
NM_182914.3(SYNE2):c.13697T>C (p.Val4566Ala) rs2097946367
NM_182914.3(SYNE2):c.13705_13706delinsTT (p.Glu4569Leu) rs2153672414
NM_182914.3(SYNE2):c.1372G>C (p.Val458Leu)
NM_182914.3(SYNE2):c.13747A>C (p.Ser4583Arg) rs886042291
NM_182914.3(SYNE2):c.13760G>A (p.Gly4587Asp)
NM_182914.3(SYNE2):c.13775C>T (p.Ala4592Val) rs2153672678
NM_182914.3(SYNE2):c.13777A>T (p.Met4593Leu) rs777253540
NM_182914.3(SYNE2):c.1379C>T (p.Pro460Leu)
NM_182914.3(SYNE2):c.13826A>G (p.Asn4609Ser)
NM_182914.3(SYNE2):c.13838G>C (p.Cys4613Ser)
NM_182914.3(SYNE2):c.13858G>C (p.Ala4620Pro) rs778607522
NM_182914.3(SYNE2):c.13875C>T (p.Ser4625=) rs762342233
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
NM_182914.3(SYNE2):c.13904A>G (p.Asn4635Ser)
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.3(SYNE2):c.13918-3C>T
NM_182914.3(SYNE2):c.13919A>G (p.Asn4640Ser)
NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)
NM_182914.3(SYNE2):c.13953G>A (p.Lys4651=)
NM_182914.3(SYNE2):c.1398G>T (p.Met466Ile) rs2096557553
NM_182914.3(SYNE2):c.14003T>C (p.Val4668Ala)
NM_182914.3(SYNE2):c.14044C>G (p.Leu4682Val) rs184218195
NM_182914.3(SYNE2):c.14050A>G (p.Asn4684Asp)
NM_182914.3(SYNE2):c.14053G>T (p.Ala4685Ser) rs779457100
NM_182914.3(SYNE2):c.1405C>T (p.Arg469Ter) rs772555259
NM_182914.3(SYNE2):c.140G>A (p.Arg47Lys)
NM_182914.3(SYNE2):c.14117T>C (p.Leu4706Pro) rs2097995502
NM_182914.3(SYNE2):c.14120AGG[1] (p.Glu4708del)
NM_182914.3(SYNE2):c.1412A>G (p.Asn471Ser) rs1596005286
NM_182914.3(SYNE2):c.14146C>T (p.Leu4716Phe)
NM_182914.3(SYNE2):c.14157G>A (p.Met4719Ile) rs140797941
NM_182914.3(SYNE2):c.14157G>T (p.Met4719Ile) rs140797941
NM_182914.3(SYNE2):c.14178G>T (p.Arg4726Ser)
NM_182914.3(SYNE2):c.14179T>G (p.Tyr4727Asp) rs2097999211
NM_182914.3(SYNE2):c.14198C>G (p.Pro4733Arg)
NM_182914.3(SYNE2):c.14224G>C (p.Ala4742Pro) rs768191476
NM_182914.3(SYNE2):c.14237G>T (p.Gly4746Val) rs2153678880
NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val) rs886042776
NM_182914.3(SYNE2):c.14258T>C (p.Ile4753Thr)
NM_182914.3(SYNE2):c.14279A>G (p.His4760Arg) rs1006840235
NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)
NM_182914.3(SYNE2):c.1432T>A (p.Phe478Ile)
NM_182914.3(SYNE2):c.14354A>G (p.Lys4785Arg) rs2153681761
NM_182914.3(SYNE2):c.14369T>C (p.Met4790Thr) rs2153681775
NM_182914.3(SYNE2):c.14371TTG[1] (p.Leu4792del)
NM_182914.3(SYNE2):c.14378T>C (p.Ile4793Thr) rs1281282356
NM_182914.3(SYNE2):c.14381A>G (p.Gln4794Arg)
NM_182914.3(SYNE2):c.14414T>C (p.Leu4805Ser) rs2153681833
NM_182914.3(SYNE2):c.14421C>G (p.Asn4807Lys)
NM_182914.3(SYNE2):c.1444C>G (p.Leu482Val)
NM_182914.3(SYNE2):c.14480G>A (p.Arg4827His)
NM_182914.3(SYNE2):c.14491A>G (p.Met4831Val)
NM_182914.3(SYNE2):c.14527T>C (p.Phe4843Leu) rs1357447966
NM_182914.3(SYNE2):c.14530G>T (p.Asp4844Tyr)
NM_182914.3(SYNE2):c.14560C>G (p.Leu4854Val) rs1475889359
NM_182914.3(SYNE2):c.14561T>G (p.Leu4854Arg)
NM_182914.3(SYNE2):c.14609C>G (p.Thr4870Arg)
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
NM_182914.3(SYNE2):c.14617A>G (p.Arg4873Gly) rs2153684012
NM_182914.3(SYNE2):c.14644C>T (p.Gln4882Ter) rs1555503635
NM_182914.3(SYNE2):c.14662A>G (p.Ile4888Val)
NM_182914.3(SYNE2):c.14676C>A (p.His4892Gln) rs375987275
NM_182914.3(SYNE2):c.14680C>T (p.Arg4894Trp)
NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser) rs754768287
NM_182914.3(SYNE2):c.14703A>T (p.Glu4901Asp)
NM_182914.3(SYNE2):c.14715G>C (p.Leu4905Phe) rs2098107665
NM_182914.3(SYNE2):c.1471G>A (p.Val491Ile) rs1596005659
NM_182914.3(SYNE2):c.14732G>A (p.Cys4911Tyr)
NM_182914.3(SYNE2):c.14792A>C (p.Lys4931Thr)
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
NM_182914.3(SYNE2):c.14798A>G (p.Asp4933Gly) rs2153688211
NM_182914.3(SYNE2):c.14812A>G (p.Arg4938Gly) rs1258752132
NM_182914.3(SYNE2):c.14900T>C (p.Leu4967Pro) rs1555506605
NM_182914.3(SYNE2):c.14927A>G (p.Asn4976Ser) rs148883036
NM_182914.3(SYNE2):c.14938G>C (p.Asp4980His)
NM_182914.3(SYNE2):c.14944G>C (p.Asp4982His)
NM_182914.3(SYNE2):c.14966A>G (p.Asn4989Ser)
NM_182914.3(SYNE2):c.14975T>G (p.Phe4992Cys)
NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)
NM_182914.3(SYNE2):c.1498T>A (p.Ser500Thr) rs2153471030
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly) rs1463128504
NM_182914.3(SYNE2):c.15008C>T (p.Ser5003Phe)
NM_182914.3(SYNE2):c.15013A>G (p.Lys5005Glu)
NM_182914.3(SYNE2):c.15017C>T (p.Thr5006Ile) rs1334553031
NM_182914.3(SYNE2):c.15022G>A (p.Val5008Ile)
NM_182914.3(SYNE2):c.15034G>A (p.Gly5012Arg)
NM_182914.3(SYNE2):c.15050A>T (p.His5017Leu) rs1387380431
NM_182914.3(SYNE2):c.15052C>G (p.Leu5018Val)
NM_182914.3(SYNE2):c.15092C>A (p.Ala5031Glu) rs2098138765
NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)
NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu) rs2153692395
NM_182914.3(SYNE2):c.15154C>T (p.His5052Tyr) rs142758563
NM_182914.3(SYNE2):c.15156C>A (p.His5052Gln)
NM_182914.3(SYNE2):c.15159+2T>G
NM_182914.3(SYNE2):c.15181T>A (p.Ser5061Thr)
NM_182914.3(SYNE2):c.15189A>C (p.Lys5063Asn) rs2098142550
NM_182914.3(SYNE2):c.15216G>A (p.Met5072Ile)
NM_182914.3(SYNE2):c.15229C>T (p.His5077Tyr)
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro) rs751092033
NM_182914.3(SYNE2):c.15243T>G (p.Asp5081Glu) rs1439636138
NM_182914.3(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)
NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)
NM_182914.3(SYNE2):c.15290T>A (p.Leu5097His)
NM_182914.3(SYNE2):c.15306+2T>G
NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)
NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val) rs376851893
NM_182914.3(SYNE2):c.15352G>C (p.Val5118Leu)
NM_182914.3(SYNE2):c.15386A>T (p.Asp5129Val)
NM_182914.3(SYNE2):c.15400C>T (p.Arg5134Cys)
NM_182914.3(SYNE2):c.15401G>A (p.Arg5134His)
NM_182914.3(SYNE2):c.15407A>G (p.Glu5136Gly) rs2098160730
NM_182914.3(SYNE2):c.15412A>G (p.Thr5138Ala)
NM_182914.3(SYNE2):c.15419T>C (p.Phe5140Ser)
NM_182914.3(SYNE2):c.15424G>A (p.Glu5142Lys) rs777915070
NM_182914.3(SYNE2):c.15429C>G (p.His5143Gln)
NM_182914.3(SYNE2):c.15436dup (p.Glu5146fs)
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile) rs2098161023
NM_182914.3(SYNE2):c.15446G>T (p.Arg5149Leu) rs142206385
NM_182914.3(SYNE2):c.15457C>A (p.Arg5153Ser)
NM_182914.3(SYNE2):c.15471G>T (p.Met5157Ile) rs774589129
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_182914.3(SYNE2):c.15556_15557delinsAC (p.Leu5186Thr) rs2153697219
NM_182914.3(SYNE2):c.15575G>T (p.Arg5192Ile)
NM_182914.3(SYNE2):c.15599A>G (p.Glu5200Gly) rs2153697258
NM_182914.3(SYNE2):c.15603T>G (p.Ser5201Arg)
NM_182914.3(SYNE2):c.15611C>T (p.Ser5204Leu)
NM_182914.3(SYNE2):c.15645A>G (p.Ile5215Met) rs2153704568
NM_182914.3(SYNE2):c.1566G>T (p.Trp522Cys)
NM_182914.3(SYNE2):c.1569+2T>G rs1029219568
NM_182914.3(SYNE2):c.15724C>T (p.Pro5242Ser) rs2153704617
NM_182914.3(SYNE2):c.1573T>C (p.Phe525Leu)
NM_182914.3(SYNE2):c.1574T>G (p.Phe525Cys) rs2096578814
NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)
NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)
NM_182914.3(SYNE2):c.15792+3A>G
NM_182914.3(SYNE2):c.15812C>A (p.Ser5271Tyr)
NM_182914.3(SYNE2):c.15818A>G (p.Gln5273Arg)
NM_182914.3(SYNE2):c.15869_15877del (p.Asn5290_Met5292del) rs2098305444
NM_182914.3(SYNE2):c.15878C>T (p.Thr5293Ile)
NM_182914.3(SYNE2):c.15884G>T (p.Arg5295Leu) rs769633528
NM_182914.3(SYNE2):c.15909C>A (p.Ser5303Arg)
NM_182914.3(SYNE2):c.15916G>A (p.Val5306Met)
NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)
NM_182914.3(SYNE2):c.15965C>T (p.Ser5322Phe)
NM_182914.3(SYNE2):c.1601G>A (p.Arg534Gln)
NM_182914.3(SYNE2):c.16034A>G (p.Lys5345Arg)
NM_182914.3(SYNE2):c.16037G>A (p.Gly5346Asp) rs751652922
NM_182914.3(SYNE2):c.16066G>A (p.Glu5356Lys)
NM_182914.3(SYNE2):c.16094+1G>A
NM_182914.3(SYNE2):c.16117A>G (p.Ile5373Val) rs139545002
NM_182914.3(SYNE2):c.16141C>T (p.Gln5381Ter) rs2153715425
NM_182914.3(SYNE2):c.16160G>C (p.Trp5387Ser)
NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)
NM_182914.3(SYNE2):c.16169A>T (p.Tyr5390Phe)
NM_182914.3(SYNE2):c.16178C>G (p.Ala5393Gly)
NM_182914.3(SYNE2):c.16234G>A (p.Ala5412Thr)
NM_182914.3(SYNE2):c.16270A>T (p.Ile5424Phe) rs2098335261
NM_182914.3(SYNE2):c.16288C>G (p.Gln5430Glu)
NM_182914.3(SYNE2):c.16294A>G (p.Ile5432Val)
NM_182914.3(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.3(SYNE2):c.16302G>T (p.Glu5434Asp)
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.16339C>T (p.Leu5447Phe) rs2153717796
NM_182914.3(SYNE2):c.16348T>G (p.Ser5450Ala) rs916780390
NM_182914.3(SYNE2):c.16349C>G (p.Ser5450Cys) rs757857559
NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)
NM_182914.3(SYNE2):c.16385C>T (p.Ser5462Phe)
NM_182914.3(SYNE2):c.16390A>G (p.Thr5464Ala)
NM_182914.3(SYNE2):c.16411C>G (p.Pro5471Ala)
NM_182914.3(SYNE2):c.16417C>T (p.His5473Tyr)
NM_182914.3(SYNE2):c.16449G>C (p.Lys5483Asn) rs1324537542
NM_182914.3(SYNE2):c.16451T>C (p.Met5484Thr)
NM_182914.3(SYNE2):c.16456C>T (p.Leu5486Phe)
NM_182914.3(SYNE2):c.16468A>C (p.Asn5490His) rs776258589
NM_182914.3(SYNE2):c.16480-1G>A rs1595931919
NM_182914.3(SYNE2):c.16505T>C (p.Phe5502Ser)
NM_182914.3(SYNE2):c.16510G>A (p.Val5504Ile) rs1405152996
NM_182914.3(SYNE2):c.16514G>A (p.Arg5505Gln) rs552897930
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=) rs2098368173
NM_182914.3(SYNE2):c.16526T>C (p.Leu5509Ser)
NM_182914.3(SYNE2):c.16554G>C (p.Glu5518Asp)
NM_182914.3(SYNE2):c.16568T>G (p.Leu5523Arg) rs2153721084
NM_182914.3(SYNE2):c.16572_16574del (p.His5524del) rs1176126760
NM_182914.3(SYNE2):c.16573C>A (p.Gln5525Lys)
NM_182914.3(SYNE2):c.16589A>G (p.Asn5530Ser) rs1040531942
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
NM_182914.3(SYNE2):c.16604T>A (p.Leu5535Gln) rs2098368827
NM_182914.3(SYNE2):c.16605+9A>G rs775937516
NM_182914.3(SYNE2):c.16607A>G (p.Asn5536Ser)
NM_182914.3(SYNE2):c.16636C>A (p.Pro5546Thr)
NM_182914.3(SYNE2):c.16642A>G (p.Ile5548Val)
NM_182914.3(SYNE2):c.16653G>T (p.Leu5551Phe)
NM_182914.3(SYNE2):c.16718G>T (p.Arg5573Leu)
NM_182914.3(SYNE2):c.16721A>G (p.Gln5574Arg)
NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)
NM_182914.3(SYNE2):c.1672A>G (p.Lys558Glu) rs761401589
NM_182914.3(SYNE2):c.16734CACGGC[1] (p.5579TA[1])
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
NM_182914.3(SYNE2):c.16742C>T (p.Thr5581Met)
NM_182914.3(SYNE2):c.16761-10A>G rs2098386877
NM_182914.3(SYNE2):c.1676A>G (p.Gln559Arg) rs764895998
NM_182914.3(SYNE2):c.16772G>T (p.Gly5591Val)
NM_182914.3(SYNE2):c.16816A>G (p.Ile5606Val) rs1595946488
NM_182914.3(SYNE2):c.16837G>A (p.Glu5613Lys) rs2153723228
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=) rs1056275153
NM_182914.3(SYNE2):c.16855G>A (p.Asp5619Asn) rs1220986968
NM_182914.3(SYNE2):c.16905+2T>A rs2098387803
NM_182914.3(SYNE2):c.16908G>A (p.Met5636Ile)
NM_182914.3(SYNE2):c.16922T>C (p.Val5641Ala)
NM_182914.3(SYNE2):c.16924T>C (p.Ser5642Pro) rs145661639
NM_182914.3(SYNE2):c.16924T>G (p.Ser5642Ala) rs145661639
NM_182914.3(SYNE2):c.16939A>G (p.Ile5647Val)
NM_182914.3(SYNE2):c.16952A>T (p.Tyr5651Phe)
NM_182914.3(SYNE2):c.16981A>T (p.Thr5661Ser)
NM_182914.3(SYNE2):c.16994A>T (p.Glu5665Val)
NM_182914.3(SYNE2):c.17001-8T>C rs768210935
NM_182914.3(SYNE2):c.17001A>G (p.Arg5667=)
NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)
NM_182914.3(SYNE2):c.17012T>C (p.Ile5671Thr)
NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)
NM_182914.3(SYNE2):c.1703G>T (p.Cys568Phe)
NM_182914.3(SYNE2):c.17065C>T (p.Arg5689Trp)
NM_182914.3(SYNE2):c.17066G>A (p.Arg5689Gln) rs574093957
NM_182914.3(SYNE2):c.17068C>A (p.Gln5690Lys)
NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)
NM_182914.3(SYNE2):c.17119A>T (p.Thr5707Ser)
NM_182914.3(SYNE2):c.17125G>T (p.Val5709Leu) rs753925813
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
NM_182914.3(SYNE2):c.17183G>A (p.Gly5728Asp)
NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)
NM_182914.3(SYNE2):c.17200C>G (p.Leu5734Val)
NM_182914.3(SYNE2):c.17235+1_17235+4del
NM_182914.3(SYNE2):c.17249A>G (p.His5750Arg)
NM_182914.3(SYNE2):c.17293G>A (p.Gly5765Arg)
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=) rs2098427126
NM_182914.3(SYNE2):c.17403G>A (p.Met5801Ile) rs2098427539
NM_182914.3(SYNE2):c.17403G>C (p.Met5801Ile)
NM_182914.3(SYNE2):c.17431A>G (p.Thr5811Ala) rs1596007501
NM_182914.3(SYNE2):c.17441A>G (p.Gln5814Arg)
NM_182914.3(SYNE2):c.17454A>T (p.Lys5818Asn)
NM_182914.3(SYNE2):c.17474G>C (p.Arg5825Thr)
NM_182914.3(SYNE2):c.17523C>A (p.His5841Gln)
NM_182914.3(SYNE2):c.17539G>C (p.Glu5847Gln) rs201427580
NM_182914.3(SYNE2):c.17549T>C (p.Leu5850Pro)
NM_182914.3(SYNE2):c.17552T>G (p.Ile5851Ser)
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln) rs886043099
NM_182914.3(SYNE2):c.17557G>A (p.Glu5853Lys)
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.3(SYNE2):c.17570C>A (p.Ser5857Tyr)
NM_182914.3(SYNE2):c.17576C>T (p.Ala5859Val)
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
NM_182914.3(SYNE2):c.17589_17590del (p.Asn5864fs) rs2098491533
NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)
NM_182914.3(SYNE2):c.1760G>T (p.Cys587Phe) rs1555410673
NM_182914.3(SYNE2):c.17618C>T (p.Ala5873Val)
NM_182914.3(SYNE2):c.17629C>T (p.Arg5877Trp)
NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr) rs1208826730
NM_182914.3(SYNE2):c.17712+1G>T
NM_182914.3(SYNE2):c.17712+5G>A
NM_182914.3(SYNE2):c.17712G>A (p.Arg5904=)
NM_182914.3(SYNE2):c.17713-2A>G
NM_182914.3(SYNE2):c.17722C>T (p.Arg5908Cys) rs201147247
NM_182914.3(SYNE2):c.1774G>C (p.Val592Leu) rs2153473289
NM_182914.3(SYNE2):c.1774G>T (p.Val592Leu) rs2153473289
NM_182914.3(SYNE2):c.17768A>G (p.Asn5923Ser)
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.17812A>G (p.Asn5938Asp)
NM_182914.3(SYNE2):c.17815A>C (p.Lys5939Gln)
NM_182914.3(SYNE2):c.17836A>T (p.Ile5946Phe)
NM_182914.3(SYNE2):c.1786C>A (p.Arg596Ser)
NM_182914.3(SYNE2):c.1786C>T (p.Arg596Cys)
NM_182914.3(SYNE2):c.1787G>A (p.Arg596His) rs764379968
NM_182914.3(SYNE2):c.17889A>G (p.Ile5963Met)
NM_182914.3(SYNE2):c.17902G>C (p.Glu5968Gln)
NM_182914.3(SYNE2):c.17908A>T (p.Lys5970Ter) rs2098511234
NM_182914.3(SYNE2):c.17927T>C (p.Met5976Thr)
NM_182914.3(SYNE2):c.1792C>A (p.Leu598Ile)
NM_182914.3(SYNE2):c.17940G>T (p.Leu5980Phe) rs778928941
NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu) rs764566778
NM_182914.3(SYNE2):c.18015T>G (p.His6005Gln) rs1323946751
NM_182914.3(SYNE2):c.18028A>G (p.Ile6010Val)
NM_182914.3(SYNE2):c.18039-3T>C
NM_182914.3(SYNE2):c.18075G>A (p.Gln6025=)
NM_182914.3(SYNE2):c.18085A>G (p.Lys6029Glu) rs1016575974
NM_182914.3(SYNE2):c.18091A>G (p.Met6031Val) rs2098581525
NM_182914.3(SYNE2):c.18098A>C (p.Asn6033Thr)
NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)
NM_182914.3(SYNE2):c.18114G>A (p.Leu6038=) rs1567630913
NM_182914.3(SYNE2):c.18119G>A (p.Arg6040Gln)
NM_182914.3(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.3(SYNE2):c.18137C>A (p.Ser6046Tyr)
NM_182914.3(SYNE2):c.18145GTT[1] (p.Val6050del)
NM_182914.3(SYNE2):c.18148G>A (p.Val6050Ile)
NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu) rs1567631199
NM_182914.3(SYNE2):c.18169C>G (p.Gln6057Glu) rs919132800
NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.18190G>T (p.Ala6064Ser) rs182079744
NM_182914.3(SYNE2):c.1823A>G (p.Glu608Gly) rs765250294
NM_182914.3(SYNE2):c.18262G>A (p.Asp6088Asn)
NM_182914.3(SYNE2):c.18274C>T (p.His6092Tyr) rs891176573
NM_182914.3(SYNE2):c.18302C>T (p.Thr6101Ile)
NM_182914.3(SYNE2):c.18312_18316del (p.Ser6105fs) rs1177756267
NM_182914.3(SYNE2):c.18324G>T (p.Gln6108His) rs1761645258
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile) rs1248550076
NM_182914.3(SYNE2):c.1837-11G>A rs770407054
NM_182914.3(SYNE2):c.18389+15C>G
NM_182914.3(SYNE2):c.18390A>G (p.Lys6130=)
NM_182914.3(SYNE2):c.18394G>A (p.Glu6132Lys)
NM_182914.3(SYNE2):c.18394GAG[1] (p.Glu6133del)
NM_182914.3(SYNE2):c.18401C>T (p.Thr6134Met)
NM_182914.3(SYNE2):c.18417G>T (p.Gln6139His)
NM_182914.3(SYNE2):c.18427G>A (p.Asp6143Asn) rs2140144167
NM_182914.3(SYNE2):c.18473C>G (p.Thr6158Arg)
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
NM_182914.3(SYNE2):c.18541-9G>A rs886050598
NM_182914.3(SYNE2):c.18553C>T (p.Gln6185Ter) rs1171077128
NM_182914.3(SYNE2):c.18560A>G (p.His6187Arg)
NM_182914.3(SYNE2):c.18576G>C (p.Gln6192His)
NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)
NM_182914.3(SYNE2):c.1860G>C (p.Gln620His)
NM_182914.3(SYNE2):c.18614G>A (p.Arg6205Gln)
NM_182914.3(SYNE2):c.18640A>G (p.Arg6214Gly) rs2098631907
NM_182914.3(SYNE2):c.18653T>C (p.Met6218Thr)
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
NM_182914.3(SYNE2):c.18662A>G (p.Glu6221Gly) rs1410409309
NM_182914.3(SYNE2):c.18674G>A (p.Arg6225His) rs749491228
NM_182914.3(SYNE2):c.18674G>T (p.Arg6225Leu)
NM_182914.3(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly) rs2098632167
NM_182914.3(SYNE2):c.18767G>A (p.Ser6256Asn)
NM_182914.3(SYNE2):c.1876G>A (p.Ala626Thr) rs766378548
NM_182914.3(SYNE2):c.18789_18790del (p.Glu6263fs)
NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)
NM_182914.3(SYNE2):c.18797T>G (p.Leu6266Arg)
NM_182914.3(SYNE2):c.1879A>G (p.Thr627Ala) rs1189381604
NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)
NM_182914.3(SYNE2):c.18829A>G (p.Ser6277Gly)
NM_182914.3(SYNE2):c.1882T>G (p.Leu628Val)
NM_182914.3(SYNE2):c.18861T>C (p.Asn6287=)
NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)
NM_182914.3(SYNE2):c.18889A>T (p.Thr6297Ser)
NM_182914.3(SYNE2):c.18911T>C (p.Ile6304Thr)
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile) rs548600640
NM_182914.3(SYNE2):c.18943G>A (p.Glu6315Lys)
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
NM_182914.3(SYNE2):c.18998G>A (p.Cys6333Tyr) rs768044506
NM_182914.3(SYNE2):c.18G>C (p.Glu6Asp) rs2095442604
NM_182914.3(SYNE2):c.19011T>G (p.Phe6337Leu) rs761432348
NM_182914.3(SYNE2):c.19016G>A (p.Arg6339Lys)
NM_182914.3(SYNE2):c.19037G>T (p.Arg6346Leu) rs144633663
NM_182914.3(SYNE2):c.1903T>G (p.Leu635Val)
NM_182914.3(SYNE2):c.1909G>A (p.Glu637Lys)
NM_182914.3(SYNE2):c.19115A>T (p.Glu6372Val)
NM_182914.3(SYNE2):c.19159C>A (p.Pro6387Thr)
NM_182914.3(SYNE2):c.19219G>A (p.Glu6407Lys)
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19289C>G (p.Ser6430Cys) rs2098656312
NM_182914.3(SYNE2):c.19297G>C (p.Glu6433Gln)
NM_182914.3(SYNE2):c.19309G>A (p.Gly6437Ser)
NM_182914.3(SYNE2):c.1930_1931delinsAA (p.Gly644Lys)
NM_182914.3(SYNE2):c.19310G>A (p.Gly6437Asp) rs1555551887
NM_182914.3(SYNE2):c.19324G>A (p.Ala6442Thr)
NM_182914.3(SYNE2):c.19328T>C (p.Leu6443Pro) rs1555551908
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
NM_182914.3(SYNE2):c.1933T>A (p.Ser645Thr) rs770407837
NM_182914.3(SYNE2):c.1933T>C (p.Ser645Pro)
NM_182914.3(SYNE2):c.19345C>A (p.Pro6449Thr)
NM_182914.3(SYNE2):c.19346C>G (p.Pro6449Arg)
NM_182914.3(SYNE2):c.1937C>G (p.Ser646Cys)
NM_182914.3(SYNE2):c.19391A>C (p.Lys6464Thr) rs1555552449
NM_182914.3(SYNE2):c.19400C>T (p.Ser6467Phe)
NM_182914.3(SYNE2):c.19402+10C>T rs759119344
NM_182914.3(SYNE2):c.19402+18C>T rs2140269081
NM_182914.3(SYNE2):c.19403-1G>C
NM_182914.3(SYNE2):c.19417G>A (p.Asp6473Asn)
NM_182914.3(SYNE2):c.19441G>A (p.Asp6481Asn) rs202052357
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
NM_182914.3(SYNE2):c.19493A>T (p.Asn6498Ile)
NM_182914.3(SYNE2):c.19523C>G (p.Thr6508Ser) rs2098666518
NM_182914.3(SYNE2):c.19538C>G (p.Pro6513Arg)
NM_182914.3(SYNE2):c.19538C>T (p.Pro6513Leu)
NM_182914.3(SYNE2):c.19539del (p.Tyr6514fs) rs2140289822
NM_182914.3(SYNE2):c.19541A>G (p.Tyr6514Cys)
NM_182914.3(SYNE2):c.19543-8C>A rs746189092
NM_182914.3(SYNE2):c.19549CTA[1] (p.Leu6519del) rs886043261
NM_182914.3(SYNE2):c.19558C>G (p.Pro6520Ala) rs2098676992
NM_182914.3(SYNE2):c.19561C>G (p.Pro6521Ala)
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
NM_182914.3(SYNE2):c.19570G>C (p.Asp6524His)
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
NM_182914.3(SYNE2):c.19630C>G (p.Leu6544Val)
NM_182914.3(SYNE2):c.19646A>G (p.Glu6549Gly) rs1567679516
NM_182914.3(SYNE2):c.19658G>A (p.Gly6553Asp) rs1005373982
NM_182914.3(SYNE2):c.19691A>G (p.Gln6564Arg) rs1567682749
NM_182914.3(SYNE2):c.19697T>C (p.Leu6566Pro)
NM_182914.3(SYNE2):c.19703A>G (p.Asn6568Ser)
NM_182914.3(SYNE2):c.19723_19724del (p.Asn6575fs) rs2140352990
NM_182914.3(SYNE2):c.19738A>G (p.Asn6580Asp)
NM_182914.3(SYNE2):c.19741T>G (p.Ser6581Ala) rs2140353373
NM_182914.3(SYNE2):c.19745A>G (p.Asp6582Gly)
NM_182914.3(SYNE2):c.19752C>G (p.Ser6584Arg)
NM_182914.3(SYNE2):c.19753G>A (p.Ala6585Thr)
NM_182914.3(SYNE2):c.19763C>T (p.Thr6588Ile) rs752030533
NM_182914.3(SYNE2):c.19780G>A (p.Glu6594Lys)
NM_182914.3(SYNE2):c.19783G>A (p.Ala6595Thr)
NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)
NM_182914.3(SYNE2):c.19806_19813del (p.Met6602fs) rs2098683425
NM_182914.3(SYNE2):c.1984G>C (p.Val662Leu)
NM_182914.3(SYNE2):c.19850A>G (p.Lys6617Arg)
NM_182914.3(SYNE2):c.19861G>A (p.Glu6621Lys)
NM_182914.3(SYNE2):c.19864A>G (p.Ile6622Val)
NM_182914.3(SYNE2):c.19903T>C (p.Ser6635Pro)
NM_182914.3(SYNE2):c.19920C>A (p.Ser6640Arg)
NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)
NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)
NM_182914.3(SYNE2):c.19967G>C (p.Ser6656Thr)
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys) rs1488229138
NM_182914.3(SYNE2):c.19973T>A (p.Leu6658His) rs1555558485
NM_182914.3(SYNE2):c.19976G>A (p.Arg6659His)
NM_182914.3(SYNE2):c.19985G>T (p.Ser6662Ile) rs2098689595
NM_182914.3(SYNE2):c.19986C>G (p.Ser6662Arg)
NM_182914.3(SYNE2):c.20021G>A (p.Ser6674Asn)
NM_182914.3(SYNE2):c.20029G>A (p.Gly6677Arg) rs767622970
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly) rs753598628
NM_182914.3(SYNE2):c.20038C>T (p.Arg6680Ter) rs753598628
NM_182914.3(SYNE2):c.20041C>T (p.Gln6681Ter) rs2098689813
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr) rs908836747
NM_182914.3(SYNE2):c.2009A>G (p.Asn670Ser)
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val) rs769553105
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
NM_182914.3(SYNE2):c.20150C>G (p.Ala6717Gly)
NM_182914.3(SYNE2):c.20172_20173insAAGCCAAATGACTTGCAGGAATGGAGAGCCACAGTCCACAGAACTGAGGACATAGGTGCTCTCGATATCC (p.Cys6725fs) rs1567693129
NM_182914.3(SYNE2):c.20257C>T (p.Leu6753Phe) rs2140451342
NM_182914.3(SYNE2):c.20296GAA[1] (p.Glu6767del) rs2098703250
NM_182914.3(SYNE2):c.2031dup (p.Gln678fs) rs750736888
NM_182914.3(SYNE2):c.20338C>G (p.Arg6780Gly) rs138437515
NM_182914.3(SYNE2):c.20338C>T (p.Arg6780Trp) rs138437515
NM_182914.3(SYNE2):c.20339G>T (p.Arg6780Leu)
NM_182914.3(SYNE2):c.20366C>A (p.Ala6789Asp) rs765411016
NM_182914.3(SYNE2):c.20382+1G>A rs113757671
NM_182914.3(SYNE2):c.20383-15G>T rs886050600
NM_182914.3(SYNE2):c.20387C>T (p.Pro6796Leu)
NM_182914.3(SYNE2):c.20395C>T (p.Pro6799Ser)
NM_182914.3(SYNE2):c.20449G>A (p.Val6817Met) rs202235545
NM_182914.3(SYNE2):c.20449G>T (p.Val6817Leu) rs202235545
NM_182914.3(SYNE2):c.2044A>C (p.Thr682Pro) rs1594659210
NM_182914.3(SYNE2):c.20461C>T (p.Arg6821Ter) rs1423117372
NM_182914.3(SYNE2):c.20470-1G>T
NM_182914.3(SYNE2):c.20494G>A (p.Gly6832Ser) rs368740030
NM_182914.3(SYNE2):c.20497GAG[2] (p.Glu6835del) rs780096549
NM_182914.3(SYNE2):c.20499_20516+4dup rs2098712389
NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)
NM_182914.3(SYNE2):c.20516+5C>T
NM_182914.3(SYNE2):c.20521C>T (p.Pro6841Ser) rs1356063795
NM_182914.3(SYNE2):c.20524G>A (p.Gly6842Ser) rs201538331
NM_182914.3(SYNE2):c.20533C>T (p.Arg6845Trp)
NM_182914.3(SYNE2):c.20534G>A (p.Arg6845Gln)
NM_182914.3(SYNE2):c.2054A>G (p.Asn685Ser)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe) rs564532190
NM_182914.3(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.3(SYNE2):c.20566C>T (p.Arg6856Trp)
NM_182914.3(SYNE2):c.20567G>T (p.Arg6856Leu) rs756327978
NM_182914.3(SYNE2):c.20570C>T (p.Ala6857Val)
NM_182914.3(SYNE2):c.20578C>A (p.Pro6860Thr) rs1284163131
NM_182914.3(SYNE2):c.20595_20612del (p.Leu6866_Leu6871del) rs750984033
NM_182914.3(SYNE2):c.20608C>T (p.Leu6870Phe)
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu) rs1555564487
NM_182914.3(SYNE2):c.20635G>A (p.Glu6879Lys) rs371152824
NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)
NM_182914.3(SYNE2):c.20636A>T (p.Glu6879Val) rs757149542
NM_182914.3(SYNE2):c.20637AGA[1] (p.Glu6880del) rs781275793
NM_182914.3(SYNE2):c.20641G>C (p.Asp6881His) rs1345320685
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.3(SYNE2):c.20674C>T (p.Arg6892Trp) rs534020975
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln) rs774785412
NM_182914.3(SYNE2):c.20693T>G (p.Leu6898Arg) rs2098715170
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
NM_182914.3(SYNE2):c.20718dup (p.Thr6907fs)
NM_182914.3(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.3(SYNE2):c.2082G>T (p.Glu694Asp) rs2096604651
NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)
NM_182914.3(SYNE2):c.2125C>T (p.Pro709Ser) rs749973572
NM_182914.3(SYNE2):c.2151+1G>T
NM_182914.3(SYNE2):c.2156G>C (p.Gly719Ala) rs2096626654
NM_182914.3(SYNE2):c.2165A>G (p.His722Arg)
NM_182914.3(SYNE2):c.2198T>G (p.Leu733Arg)
NM_182914.3(SYNE2):c.2203G>A (p.Val735Met) rs994577244
NM_182914.3(SYNE2):c.2233C>G (p.Gln745Glu) rs2153479422
NM_182914.3(SYNE2):c.2279A>G (p.Asp760Gly) rs1594681467
NM_182914.3(SYNE2):c.2284G>A (p.Val762Met)
NM_182914.3(SYNE2):c.2291C>T (p.Thr764Ile) rs2153479469
NM_182914.3(SYNE2):c.2313+1G>A rs2096627723
NM_182914.3(SYNE2):c.2314-12T>G
NM_182914.3(SYNE2):c.2314-14A>G
NM_182914.3(SYNE2):c.2337G>A (p.Met779Ile)
NM_182914.3(SYNE2):c.2351T>G (p.Met784Arg)
NM_182914.3(SYNE2):c.2354C>T (p.Ala785Val) rs2153485003
NM_182914.3(SYNE2):c.2360G>C (p.Ser787Thr)
NM_182914.3(SYNE2):c.237+6A>T
NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)
NM_182914.3(SYNE2):c.238C>T (p.Pro80Ser) rs1595771772
NM_182914.3(SYNE2):c.2426C>T (p.Thr809Ile)
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)
NM_182914.3(SYNE2):c.2441C>T (p.Ala814Val)
NM_182914.3(SYNE2):c.2472+3C>A
NM_182914.3(SYNE2):c.2472+5C>G rs537534571
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His) rs760909392
NM_182914.3(SYNE2):c.2489T>G (p.Leu830Arg) rs868572266
NM_182914.3(SYNE2):c.2492T>C (p.Ile831Thr)
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2498C>T (p.Ala833Val) rs200503488
NM_182914.3(SYNE2):c.2525C>A (p.Pro842Gln) rs1230958792
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
NM_182914.3(SYNE2):c.256A>G (p.Asn86Asp)
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
NM_182914.3(SYNE2):c.2593del (p.Gln865fs) rs2153485914
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)
NM_182914.3(SYNE2):c.2647-2A>G
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.2672A>G (p.Lys891Arg)
NM_182914.3(SYNE2):c.2722A>C (p.Thr908Pro)
NM_182914.3(SYNE2):c.2727G>T (p.Glu909Asp) rs2096689999
NM_182914.3(SYNE2):c.2738T>C (p.Met913Thr) rs770869083
NM_182914.3(SYNE2):c.2746G>A (p.Glu916Lys) rs2096690257
NM_182914.3(SYNE2):c.2779G>C (p.Glu927Gln)
NM_182914.3(SYNE2):c.2806T>C (p.Tyr936His)
NM_182914.3(SYNE2):c.2815C>A (p.Gln939Lys)
NM_182914.3(SYNE2):c.2831T>C (p.Ile944Thr)
NM_182914.3(SYNE2):c.2844G>C (p.Lys948Asn)
NM_182914.3(SYNE2):c.2857A>G (p.Ile953Val) rs2096703120
NM_182914.3(SYNE2):c.287A>G (p.His96Arg) rs2095922493
NM_182914.3(SYNE2):c.2899A>G (p.Ile967Val)
NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln) rs781375790
NM_182914.3(SYNE2):c.2908G>A (p.Gly970Arg) rs767335788
NM_182914.3(SYNE2):c.290C>G (p.Ala97Gly)
NM_182914.3(SYNE2):c.2942C>T (p.Ala981Val) rs1466945953
NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)
NM_182914.3(SYNE2):c.2972A>C (p.Gln991Pro)
NM_182914.3(SYNE2):c.3042A>T (p.Glu1014Asp) rs750783509
NM_182914.3(SYNE2):c.3076A>T (p.Ile1026Leu) rs1395621217
NM_182914.3(SYNE2):c.3113T>C (p.Met1038Thr) rs2096719569
NM_182914.3(SYNE2):c.3140C>T (p.Thr1047Met)
NM_182914.3(SYNE2):c.3152+5G>T
NM_182914.3(SYNE2):c.3152A>G (p.Glu1051Gly)
NM_182914.3(SYNE2):c.316-2A>G rs2153417734
NM_182914.3(SYNE2):c.3160A>T (p.Ile1054Phe)
NM_182914.3(SYNE2):c.3176A>G (p.Asn1059Ser)
NM_182914.3(SYNE2):c.3177T>G (p.Asn1059Lys) rs1594758891
NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)
NM_182914.3(SYNE2):c.3197_3207del (p.Ser1066fs)
NM_182914.3(SYNE2):c.3247A>G (p.Met1083Val) rs1335909602
NM_182914.3(SYNE2):c.3275C>T (p.Ala1092Val) rs1555421275
NM_182914.3(SYNE2):c.3287G>A (p.Arg1096Lys) rs2096728053
NM_182914.3(SYNE2):c.330_333del (p.Ile111fs)
NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)
NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)
NM_182914.3(SYNE2):c.3354-3C>T
NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)
NM_182914.3(SYNE2):c.3362C>A (p.Thr1121Lys) rs2153500223
NM_182914.3(SYNE2):c.3395A>T (p.Asn1132Ile) rs1175611635
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
NM_182914.3(SYNE2):c.3425C>G (p.Ser1142Cys)
NM_182914.3(SYNE2):c.3445A>C (p.Ser1149Arg) rs2096734093
NM_182914.3(SYNE2):c.3452G>A (p.Cys1151Tyr) rs1555421819
NM_182914.3(SYNE2):c.3472G>C (p.Asp1158His) rs750773485
NM_182914.3(SYNE2):c.3486A>G (p.Ile1162Met)
NM_182914.3(SYNE2):c.3506G>T (p.Arg1169Leu) rs200437377
NM_182914.3(SYNE2):c.3541del (p.Glu1181fs) rs2096746644
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
NM_182914.3(SYNE2):c.3577A>G (p.Ile1193Val)
NM_182914.3(SYNE2):c.358A>C (p.Asn120His) rs1595773305
NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)
NM_182914.3(SYNE2):c.3611G>A (p.Arg1204Lys)
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
NM_182914.3(SYNE2):c.3631A>G (p.Asn1211Asp) rs2096747451
NM_182914.3(SYNE2):c.3641T>C (p.Met1214Thr)
NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)
NM_182914.3(SYNE2):c.3688G>A (p.Ala1230Thr) rs1294862758
NM_182914.3(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.3(SYNE2):c.3730A>G (p.Met1244Val) rs886042631
NM_182914.3(SYNE2):c.3739C>A (p.Gln1247Lys) rs1594783691
NM_182914.3(SYNE2):c.3766C>T (p.Arg1256Cys)
NM_182914.3(SYNE2):c.3788A>C (p.Asn1263Thr) rs1021504217
NM_182914.3(SYNE2):c.3794A>G (p.Gln1265Arg) rs759543992
NM_182914.3(SYNE2):c.3797A>G (p.Asp1266Gly) rs752582359
NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)
NM_182914.3(SYNE2):c.3812A>G (p.Gln1271Arg) rs2096765172
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr) rs1309435421
NM_182914.3(SYNE2):c.3853G>T (p.Val1285Leu)
NM_182914.3(SYNE2):c.3870C>G (p.His1290Gln)
NM_182914.3(SYNE2):c.3871C>G (p.Pro1291Ala)
NM_182914.3(SYNE2):c.3875T>C (p.Phe1292Ser) rs2096765769
NM_182914.3(SYNE2):c.3880C>A (p.Leu1294Ile)
NM_182914.3(SYNE2):c.3883C>A (p.His1295Asn) rs749089209
NM_182914.3(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.3(SYNE2):c.3903A>G (p.Ile1301Met)
NM_182914.3(SYNE2):c.3916A>G (p.Thr1306Ala) rs2096766111
NM_182914.3(SYNE2):c.3950_3961del (p.Arg1317_Asp1320del)
NM_182914.3(SYNE2):c.3953G>C (p.Ser1318Thr) rs2153505738
NM_182914.3(SYNE2):c.39G>T (p.Gln13His) rs1187262903
NM_182914.3(SYNE2):c.4027A>G (p.Thr1343Ala) rs2096767067
NM_182914.3(SYNE2):c.4070C>A (p.Thr1357Lys) rs769845003
NM_182914.3(SYNE2):c.407A>T (p.His136Leu)
NM_182914.3(SYNE2):c.4092G>C (p.Glu1364Asp)
NM_182914.3(SYNE2):c.4102C>G (p.His1368Asp) rs1166480761
NM_182914.3(SYNE2):c.4114G>T (p.Asp1372Tyr)
NM_182914.3(SYNE2):c.4136A>G (p.Lys1379Arg) rs2153505913
NM_182914.3(SYNE2):c.4178G>T (p.Arg1393Leu)
NM_182914.3(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.3(SYNE2):c.4196G>A (p.Cys1399Tyr)
NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)
NM_182914.3(SYNE2):c.4219dup (p.Ser1407fs) rs1567023881
NM_182914.3(SYNE2):c.4228T>G (p.Leu1410Val)
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly) rs1421966833
NM_182914.3(SYNE2):c.4242T>A (p.His1414Gln)
NM_182914.3(SYNE2):c.4249G>A (p.Gly1417Arg)
NM_182914.3(SYNE2):c.424C>G (p.Gln142Glu) rs2096122537
NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)
NM_182914.3(SYNE2):c.4351A>G (p.Ser1451Gly) rs535438406
NM_182914.3(SYNE2):c.4367A>G (p.Lys1456Arg) rs373113826
NM_182914.3(SYNE2):c.4370A>G (p.Asp1457Gly)
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro) rs1482814444
NM_182914.3(SYNE2):c.438C>G (p.Cys146Trp) rs765943821
NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.4406C>G (p.Ser1469Ter) rs1191099437
NM_182914.3(SYNE2):c.440A>G (p.Asn147Ser)
NM_182914.3(SYNE2):c.4418T>G (p.Leu1473Arg) rs772693998
NM_182914.3(SYNE2):c.4432G>C (p.Asp1478His) rs1423801252
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
NM_182914.3(SYNE2):c.446A>G (p.Asn149Ser)
NM_182914.3(SYNE2):c.4471G>A (p.Ala1491Thr)
NM_182914.3(SYNE2):c.4474A>G (p.Asn1492Asp) rs759496296
NM_182914.3(SYNE2):c.4576T>C (p.Cys1526Arg) rs2153513257
NM_182914.3(SYNE2):c.4577+6del
NM_182914.3(SYNE2):c.4585C>T (p.Gln1529Ter) rs2096831020
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
NM_182914.3(SYNE2):c.4603G>C (p.Glu1535Gln)
NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)
NM_182914.3(SYNE2):c.4640T>C (p.Leu1547Ser) rs1594836938
NM_182914.3(SYNE2):c.4646C>G (p.Thr1549Ser) rs1223928872
NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)
NM_182914.3(SYNE2):c.4672A>G (p.Ile1558Val) rs781515176
NM_182914.3(SYNE2):c.4697G>A (p.Gly1566Glu) rs906789317
NM_182914.3(SYNE2):c.4699A>G (p.Lys1567Glu)
NM_182914.3(SYNE2):c.4720A>G (p.Ile1574Val)
NM_182914.3(SYNE2):c.4726G>A (p.Glu1576Lys)
NM_182914.3(SYNE2):c.4728+9A>G rs2096831894
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe) rs1018808319
NM_182914.3(SYNE2):c.4769T>C (p.Val1590Ala) rs1345072464
NM_182914.3(SYNE2):c.476T>C (p.Val159Ala)
NM_182914.3(SYNE2):c.4787A>C (p.Gln1596Pro) rs2096893453
NM_182914.3(SYNE2):c.478G>A (p.Asp160Asn) rs1566887934
NM_182914.3(SYNE2):c.4799A>C (p.Asn1600Thr) rs2096893538
NM_182914.3(SYNE2):c.4810T>C (p.Tyr1604His)
NM_182914.3(SYNE2):c.4819A>G (p.Lys1607Glu)
NM_182914.3(SYNE2):c.4826A>C (p.Lys1609Thr)
NM_182914.3(SYNE2):c.4844C>A (p.Pro1615His)
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del) rs1430734342
NM_182914.3(SYNE2):c.4905A>C (p.Glu1635Asp)
NM_182914.3(SYNE2):c.4909T>C (p.Tyr1637His)
NM_182914.3(SYNE2):c.4924G>A (p.Gly1642Ser) rs1555431607
NM_182914.3(SYNE2):c.4927C>T (p.Arg1643Ter)
NM_182914.3(SYNE2):c.4933C>G (p.Leu1645Val) rs1555431632
NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys) rs2096903791
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr) rs1594893225
NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)
NM_182914.3(SYNE2):c.5023A>G (p.Thr1675Ala)
NM_182914.3(SYNE2):c.5060A>G (p.Gln1687Arg) rs1448142743
NM_182914.3(SYNE2):c.5066A>G (p.His1689Arg)
NM_182914.3(SYNE2):c.5068G>A (p.Glu1690Lys) rs2096924669
NM_182914.3(SYNE2):c.5069A>G (p.Glu1690Gly)
NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)
NM_182914.3(SYNE2):c.5131G>A (p.Glu1711Lys)
NM_182914.3(SYNE2):c.5132A>G (p.Glu1711Gly)
NM_182914.3(SYNE2):c.5151+17_5151+18insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTTTATTTA
NM_182914.3(SYNE2):c.5151+1G>T rs2153531508
NM_182914.3(SYNE2):c.515G>T (p.Cys172Phe) rs2096123588
NM_182914.3(SYNE2):c.5162C>T (p.Ser1721Phe)
NM_182914.3(SYNE2):c.5222A>G (p.His1741Arg) rs1221262801
NM_182914.3(SYNE2):c.5234G>A (p.Gly1745Asp)
NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)
NM_182914.3(SYNE2):c.5276C>G (p.Thr1759Ser)
NM_182914.3(SYNE2):c.5297C>T (p.Ser1766Phe)
NM_182914.3(SYNE2):c.5312T>C (p.Leu1771Pro)
NM_182914.3(SYNE2):c.5352+6A>G rs572125775
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys) rs2096938300
NM_182914.3(SYNE2):c.5422A>G (p.Thr1808Ala)
NM_182914.3(SYNE2):c.544del (p.Ser182fs) rs2153430619
NM_182914.3(SYNE2):c.5500G>C (p.Asp1834His) rs760548610
NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)
NM_182914.3(SYNE2):c.550A>G (p.Arg184Gly)
NM_182914.3(SYNE2):c.5545G>T (p.Asp1849Tyr)
NM_182914.3(SYNE2):c.55G>A (p.Asp19Asn)
NM_182914.3(SYNE2):c.5606dup (p.Ser1870fs)
NM_182914.3(SYNE2):c.5646G>T (p.Leu1882Phe) rs747913558
NM_182914.3(SYNE2):c.5650C>T (p.Leu1884Phe)
NM_182914.3(SYNE2):c.566T>C (p.Leu189Ser)
NM_182914.3(SYNE2):c.5688C>A (p.Ser1896Arg)
NM_182914.3(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.3(SYNE2):c.5726A>G (p.His1909Arg) rs750862490
NM_182914.3(SYNE2):c.5728G>A (p.Val1910Met) rs2096960883
NM_182914.3(SYNE2):c.5729T>C (p.Val1910Ala) rs758536054
NM_182914.3(SYNE2):c.5737C>T (p.Leu1913Phe) rs780436538
NM_182914.3(SYNE2):c.5746T>G (p.Trp1916Gly)
NM_182914.3(SYNE2):c.5752G>A (p.Val1918Met) rs199898588
NM_182914.3(SYNE2):c.5767G>A (p.Glu1923Lys)
NM_182914.3(SYNE2):c.5768A>T (p.Glu1923Val)
NM_182914.3(SYNE2):c.5776A>G (p.Lys1926Glu)
NM_182914.3(SYNE2):c.5792G>A (p.Cys1931Tyr) rs2153537144
NM_182914.3(SYNE2):c.5796G>T (p.Gln1932His) rs1567083049
NM_182914.3(SYNE2):c.5864T>C (p.Leu1955Pro)
NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=) rs2096966269
NM_182914.3(SYNE2):c.5896T>C (p.Trp1966Arg)
NM_182914.3(SYNE2):c.58G>A (p.Asp20Asn)
NM_182914.3(SYNE2):c.58G>T (p.Asp20Tyr) rs770930910
NM_182914.3(SYNE2):c.590+6T>C rs1011848200
NM_182914.3(SYNE2):c.5906T>G (p.Met1969Arg) rs4902264
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
NM_182914.3(SYNE2):c.5912A>G (p.Glu1971Gly)
NM_182914.3(SYNE2):c.5918G>C (p.Gly1973Ala)
NM_182914.3(SYNE2):c.6019GAA[3] (p.Glu2010del) rs908642792
NM_182914.3(SYNE2):c.6063A>G (p.Arg2021=) rs2096968604
NM_182914.3(SYNE2):c.6081A>T (p.Arg2027Ser)
NM_182914.3(SYNE2):c.6097G>A (p.Glu2033Lys)
NM_182914.3(SYNE2):c.6124G>A (p.Glu2042Lys)
NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)
NM_182914.3(SYNE2):c.6154G>C (p.Asp2052His)
NM_182914.3(SYNE2):c.6173A>G (p.Lys2058Arg)
NM_182914.3(SYNE2):c.6185A>G (p.Glu2062Gly)
NM_182914.3(SYNE2):c.6201G>C (p.Leu2067Phe) rs2096969652
NM_182914.3(SYNE2):c.6211G>A (p.Glu2071Lys) rs551783338
NM_182914.3(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.3(SYNE2):c.6250A>C (p.Lys2084Gln)
NM_182914.3(SYNE2):c.6252+3A>G
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr) rs1473588731
NM_182914.3(SYNE2):c.6307C>G (p.Gln2103Glu) rs2096981266
NM_182914.3(SYNE2):c.6314A>G (p.Glu2105Gly)
NM_182914.3(SYNE2):c.6324G>C (p.Glu2108Asp)
NM_182914.3(SYNE2):c.6325G>A (p.Ala2109Thr) rs1342257701
NM_182914.3(SYNE2):c.6328C>T (p.Pro2110Ser)
NM_182914.3(SYNE2):c.6383A>T (p.His2128Leu)
NM_182914.3(SYNE2):c.6384T>A (p.His2128Gln) rs752995209
NM_182914.3(SYNE2):c.6412G>A (p.Glu2138Lys) rs2153540879
NM_182914.3(SYNE2):c.644C>T (p.Ala215Val)
NM_182914.3(SYNE2):c.6466T>G (p.Leu2156Val) rs2096990417
NM_182914.3(SYNE2):c.6476T>C (p.Ile2159Thr)
NM_182914.3(SYNE2):c.6485A>G (p.Lys2162Arg) rs2096990635
NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)
NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His) rs373963217
NM_182914.3(SYNE2):c.6601G>A (p.Glu2201Lys)
NM_182914.3(SYNE2):c.6620A>G (p.Asn2207Ser) rs2153541057
NM_182914.3(SYNE2):c.6621C>G (p.Asn2207Lys)
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
NM_182914.3(SYNE2):c.6674A>C (p.Glu2225Ala)
NM_182914.3(SYNE2):c.6676A>G (p.Ile2226Val) rs2153541111
NM_182914.3(SYNE2):c.6708A>C (p.Gln2236His)
NM_182914.3(SYNE2):c.670C>T (p.Arg224Ter)
NM_182914.3(SYNE2):c.6714G>A (p.Gln2238=)
NM_182914.3(SYNE2):c.671G>A (p.Arg224Gln) rs764128650
NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)
NM_182914.3(SYNE2):c.6735C>A (p.Asp2245Glu)
NM_182914.3(SYNE2):c.6752A>T (p.His2251Leu) rs2153543846
NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)
NM_182914.3(SYNE2):c.6817G>C (p.Val2273Leu) rs1274502678
NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)
NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)
NM_182914.3(SYNE2):c.6836C>T (p.Pro2279Leu) rs2097019470
NM_182914.3(SYNE2):c.6879+5T>C
NM_182914.3(SYNE2):c.688A>G (p.Met230Val)
NM_182914.3(SYNE2):c.6907G>A (p.Asp2303Asn) rs2097030466
NM_182914.3(SYNE2):c.6908A>G (p.Asp2303Gly)
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile) rs2096220312
NM_182914.3(SYNE2):c.697G>A (p.Val233Met) rs2153436709
NM_182914.3(SYNE2):c.6991G>T (p.Asp2331Tyr) rs2153545498
NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)
NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)
NM_182914.3(SYNE2):c.7156G>A (p.Val2386Met)
NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)
NM_182914.3(SYNE2):c.718G>A (p.Asp240Asn) rs1226057811
NM_182914.3(SYNE2):c.7221+5G>C
NM_182914.3(SYNE2):c.7254A>C (p.Gln2418His) rs984046422
NM_182914.3(SYNE2):c.7256T>C (p.Leu2419Pro) rs2097198733
NM_182914.3(SYNE2):c.7268C>A (p.Ala2423Asp)
NM_182914.3(SYNE2):c.7318C>A (p.Gln2440Lys)
NM_182914.3(SYNE2):c.739A>G (p.Arg247Gly)
NM_182914.3(SYNE2):c.7417A>C (p.Lys2473Gln) rs2097210469
NM_182914.3(SYNE2):c.744T>G (p.Ile248Met)
NM_182914.3(SYNE2):c.7451C>T (p.Thr2484Ile)
NM_182914.3(SYNE2):c.7467G>T (p.Leu2489Phe)
NM_182914.3(SYNE2):c.7478A>G (p.Asn2493Ser)
NM_182914.3(SYNE2):c.7489T>C (p.Ser2497Pro) rs2153573752
NM_182914.3(SYNE2):c.7513C>T (p.Leu2505Phe) rs749522550
NM_182914.3(SYNE2):c.7522C>T (p.Leu2508Phe) rs1434034677
NM_182914.3(SYNE2):c.7526T>C (p.Ile2509Thr)
NM_182914.3(SYNE2):c.7536G>C (p.Lys2512Asn) rs2097211326
NM_182914.3(SYNE2):c.7579G>A (p.Glu2527Lys) rs1483967595
NM_182914.3(SYNE2):c.7601C>A (p.Ser2534Tyr) rs749911464
NM_182914.3(SYNE2):c.7617G>T (p.Leu2539Phe) rs200359168
NM_182914.3(SYNE2):c.7642G>A (p.Val2548Ile)
NM_182914.3(SYNE2):c.766C>T (p.Pro256Ser) rs1195315926
NM_182914.3(SYNE2):c.7703A>G (p.Glu2568Gly) rs1460075302
NM_182914.3(SYNE2):c.7718C>G (p.Ser2573Cys) rs2097227855
NM_182914.3(SYNE2):c.772T>G (p.Leu258Val) rs935787094
NM_182914.3(SYNE2):c.7748A>G (p.Asn2583Ser)
NM_182914.3(SYNE2):c.7760A>G (p.His2587Arg)
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.3(SYNE2):c.7811A>T (p.Glu2604Val)
NM_182914.3(SYNE2):c.7816G>T (p.Gly2606Cys) rs201069405
NM_182914.3(SYNE2):c.7821G>C (p.Trp2607Cys)
NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)
NM_182914.3(SYNE2):c.7875TGA[1] (p.Asp2626del)
NM_182914.3(SYNE2):c.7877A>G (p.Asp2626Gly) rs2097229314
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly) rs1440652896
NM_182914.3(SYNE2):c.7889C>A (p.Thr2630Asn) rs1595152259
NM_182914.3(SYNE2):c.7895T>C (p.Met2632Thr)
NM_182914.3(SYNE2):c.79+3A>T rs760448281
NM_182914.3(SYNE2):c.79+5T>A rs776230510
NM_182914.3(SYNE2):c.7931_7932insTCTACAGTTGCAACA (p.Gln2643_Gln2644insHisLeuGlnLeuGln) rs2097229779
NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)
NM_182914.3(SYNE2):c.7974A>C (p.Glu2658Asp) rs2097230167
NM_182914.3(SYNE2):c.7976G>C (p.Arg2659Pro) rs199561218
NM_182914.3(SYNE2):c.8000C>A (p.Ala2667Asp)
NM_182914.3(SYNE2):c.8000C>T (p.Ala2667Val)
NM_182914.3(SYNE2):c.8013C>G (p.Asp2671Glu) rs1324986561
NM_182914.3(SYNE2):c.8019G>C (p.Gln2673His) rs2097230524
NM_182914.3(SYNE2):c.8026A>G (p.Lys2676Glu) rs756185609
NM_182914.3(SYNE2):c.802G>A (p.Asp268Asn) rs1555400535
NM_182914.3(SYNE2):c.803A>T (p.Asp268Val) rs1566917767
NM_182914.3(SYNE2):c.8042T>C (p.Val2681Ala)
NM_182914.3(SYNE2):c.8067G>C (p.Gln2689His)
NM_182914.3(SYNE2):c.8069T>C (p.Met2690Thr) rs560226719
NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)
NM_182914.3(SYNE2):c.8097GAA[1] (p.Lys2700del)
NM_182914.3(SYNE2):c.8125T>A (p.Leu2709Met)
NM_182914.3(SYNE2):c.8167_8172del (p.Ala2723_Glu2724del)
NM_182914.3(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.3(SYNE2):c.8257T>C (p.Ser2753Pro) rs1214897374
NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)
NM_182914.3(SYNE2):c.8264C>G (p.Pro2755Arg)
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182914.3(SYNE2):c.8282T>C (p.Ile2761Thr)
NM_182914.3(SYNE2):c.8308G>A (p.Val2770Met)
NM_182914.3(SYNE2):c.8309T>C (p.Val2770Ala)
NM_182914.3(SYNE2):c.833T>C (p.Val278Ala)
NM_182914.3(SYNE2):c.8345T>C (p.Val2782Ala) rs201852964
NM_182914.3(SYNE2):c.8351C>T (p.Ser2784Leu) rs765459823
NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)
NM_182914.3(SYNE2):c.8377G>T (p.Val2793Phe) rs747840683
NM_182914.3(SYNE2):c.8405G>A (p.Ser2802Asn)
NM_182914.3(SYNE2):c.8407G>A (p.Asp2803Asn)
NM_182914.3(SYNE2):c.8408A>G (p.Asp2803Gly)
NM_182914.3(SYNE2):c.8434C>T (p.Arg2812Trp)
NM_182914.3(SYNE2):c.8499G>T (p.Leu2833Phe) rs2153576700
NM_182914.3(SYNE2):c.8512A>G (p.Asn2838Asp) rs2153576715
NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)
NM_182914.3(SYNE2):c.8528T>A (p.Ile2843Lys)
NM_182914.3(SYNE2):c.8531G>A (p.Arg2844Lys)
NM_182914.3(SYNE2):c.8532_8535del (p.Arg2844fs) rs2153576735
NM_182914.3(SYNE2):c.8584G>C (p.Glu2862Gln)
NM_182914.3(SYNE2):c.8591C>T (p.Ala2864Val) rs2153576784
NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)
NM_182914.3(SYNE2):c.8626A>C (p.Thr2876Pro) rs1322044514
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.3(SYNE2):c.8698A>C (p.Asn2900His)
NM_182914.3(SYNE2):c.8698A>G (p.Asn2900Asp)
NM_182914.3(SYNE2):c.8726A>G (p.Glu2909Gly)
NM_182914.3(SYNE2):c.8756A>G (p.Asn2919Ser)
NM_182914.3(SYNE2):c.8764A>G (p.Ile2922Val)
NM_182914.3(SYNE2):c.8765T>C (p.Ile2922Thr) rs2097236290
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=) rs778905999
NM_182914.3(SYNE2):c.8798A>G (p.Asn2933Ser)
NM_182914.3(SYNE2):c.8819A>G (p.His2940Arg)
NM_182914.3(SYNE2):c.8825T>C (p.Ile2942Thr) rs2097236781
NM_182914.3(SYNE2):c.8834G>A (p.Cys2945Tyr)
NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)
NM_182914.3(SYNE2):c.888+13A>G rs2096315740
NM_182914.3(SYNE2):c.8884A>G (p.Ile2962Val) rs2153576994
NM_182914.3(SYNE2):c.8900T>C (p.Leu2967Pro)
NM_182914.3(SYNE2):c.8908A>G (p.Asn2970Asp)
NM_182914.3(SYNE2):c.8928T>G (p.Gly2976=) rs373828834
NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)
NM_182914.3(SYNE2):c.896T>A (p.Val299Glu)
NM_182914.3(SYNE2):c.9004A>C (p.Lys3002Gln)
NM_182914.3(SYNE2):c.9034T>G (p.Trp3012Gly) rs373784533
NM_182914.3(SYNE2):c.9037G>A (p.Asp3013Asn)
NM_182914.3(SYNE2):c.9048A>C (p.Gln3016His)
NM_182914.3(SYNE2):c.9065C>T (p.Thr3022Ile)
NM_182914.3(SYNE2):c.9081del (p.Glu3028fs) rs1253969126
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
NM_182914.3(SYNE2):c.9144T>G (p.Tyr3048Ter) rs1331113396
NM_182914.3(SYNE2):c.9157A>C (p.Ser3053Arg) rs2153577267
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
NM_182914.3(SYNE2):c.9286T>C (p.Cys3096Arg) rs2153577355
NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu) rs768731460
NM_182914.3(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.3(SYNE2):c.942G>T (p.Gln314His) rs2096356090
NM_182914.3(SYNE2):c.9442G>A (p.Glu3148Lys)
NM_182914.3(SYNE2):c.9443A>T (p.Glu3148Val)
NM_182914.3(SYNE2):c.9466G>A (p.Asp3156Asn)
NM_182914.3(SYNE2):c.9478A>C (p.Thr3160Pro)
NM_182914.3(SYNE2):c.9508T>C (p.Ser3170Pro)
NM_182914.3(SYNE2):c.9509C>A (p.Ser3170Tyr)
NM_182914.3(SYNE2):c.9529C>T (p.Leu3177Phe) rs780632657
NM_182914.3(SYNE2):c.9554T>C (p.Ile3185Thr)
NM_182914.3(SYNE2):c.9558A>C (p.Gln3186His) rs776801026
NM_182914.3(SYNE2):c.9576T>G (p.Cys3192Trp)
NM_182914.3(SYNE2):c.9610T>G (p.Cys3204Gly) rs531451940
NM_182914.3(SYNE2):c.9634A>G (p.Ile3212Val)
NM_182914.3(SYNE2):c.9670A>T (p.Ser3224Cys) rs545062561
NM_182914.3(SYNE2):c.9683C>T (p.Thr3228Ile)
NM_182914.3(SYNE2):c.9711G>T (p.Gln3237His) rs1406827932
NM_182914.3(SYNE2):c.9739C>T (p.Arg3247Cys)
NM_182914.3(SYNE2):c.9777_9778del (p.Arg3260fs) rs2153580475
NM_182914.3(SYNE2):c.9812G>A (p.Ser3271Asn) rs756481940
NM_182914.3(SYNE2):c.9825C>T (p.Leu3275=)
NM_182914.3(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.3(SYNE2):c.9893G>A (p.Arg3298Gln) rs770399154
NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)
NM_182914.3(SYNE2):c.9925_9926inv (p.His3309Cys)
NM_182914.3(SYNE2):c.9929T>C (p.Ile3310Thr)
NM_182914.3(SYNE2):c.9952G>A (p.Gly3318Arg)
NM_182914.3(SYNE2):c.995T>G (p.Leu332Arg) rs2153454245
NM_182914.3(SYNE2):c.9962C>G (p.Ser3321Cys)
NM_182914.3(SYNE2):c.9967C>T (p.Pro3323Ser)
NM_182914.3(SYNE2):c.9994A>G (p.Thr3332Ala) rs2153580640
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe) rs2097267152
NM_182961.4(SYNE1):c.*295T>C rs886061190
NM_182961.4(SYNE1):c.*449T>A rs886061188
NM_182961.4(SYNE1):c.*449T>C rs886061188
NM_182961.4(SYNE1):c.*515T>C rs886061187
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.-224+1G>A
NM_182961.4(SYNE1):c.-352C>T rs886061220
NM_182961.4(SYNE1):c.-40A>T rs2099690467
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala) rs2097039682
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser) rs2097039682
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val) rs748579024
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu) rs758060339
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe) rs754599705
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala) rs2154069302
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys) rs1179568983
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val) rs546645393
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr) rs1212823311
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu) rs748911036
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile) rs2096943501
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg) rs1047722501
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met) rs201204269
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro) rs200003096
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
NM_182961.4(SYNE1):c.10420A>G (p.Arg3474Gly) rs2096893025
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
NM_182961.4(SYNE1):c.1047+4T>G rs9397106
NM_182961.4(SYNE1):c.1048-4_1048-3del rs755509246
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe) rs1447737732
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
NM_182961.4(SYNE1):c.10596G>A (p.Leu3532=) rs765669433
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser) rs776816480
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile) rs1156294695
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val) rs2154051091
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His) rs779366372
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu) rs143034104
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val) rs2098931426
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys) rs1214109688
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
NM_182961.4(SYNE1):c.1094T>C (p.Ile365Thr) rs2098931353
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
NM_182961.4(SYNE1):c.10981A>C (p.Arg3661=) rs767172575
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly) rs767172575
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln) rs143673038
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met) rs567753957
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His) rs2154045109
NM_182961.4(SYNE1):c.1119C>T (p.His373=) rs886061217
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
NM_182961.4(SYNE1):c.11253+6C>A rs2096773869
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg) rs953580081
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile) rs2096753111
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly) rs2096752876
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu) rs2154039505
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=) rs146919170
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile) rs770523249
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro) rs776601282
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met) rs755039909
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys) rs1590820792
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp) rs750372071
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly) rs935958519
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
NM_182961.4(SYNE1):c.11902-3C>T
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser) rs2154025706
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser) rs755560676
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val) rs745342797
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu) rs756840607
NM_182961.4(SYNE1):c.12056C>T (p.Ala4019Val) rs756840607
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn) rs2154025477
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met) rs2096650506
NM_182961.4(SYNE1):c.12066C>G (p.Ser4022Arg)
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val) rs2154025456
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
NM_182961.4(SYNE1):c.12090T>A (p.Ser4030Arg) rs2096590726
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val) rs761744256
NM_182961.4(SYNE1):c.12136C>A (p.Gln4046Lys) rs1159138676
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) rs1366322267
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys) rs771323185
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr) rs771323185
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp) rs1554492224
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met) rs144274149
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro) rs911413208
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys) rs898572784
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met) rs2096403501
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp) rs763067012
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His) rs147385939
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del) rs1356327027
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn) rs149536991
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg) rs1032510868
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly) rs1363382711
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp) rs866991892
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu) rs140492158
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His) rs2096319568
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr) rs1590300572
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=) rs1554474578
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
NM_182961.4(SYNE1):c.129+3A>G
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val) rs758301679
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
NM_182961.4(SYNE1):c.1291G>T (p.Val431Phe) rs761198236
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala) rs2153974951
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn) rs2153974889
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly) rs2153974617
NM_182961.4(SYNE1):c.13089A>T (p.Gln4363His)
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys) rs2154294590
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser) rs201900423
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
NM_182961.4(SYNE1):c.13223C>G (p.Ala4408Gly) rs886061204
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln) rs766831979
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr) rs1405025412
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile) rs2153973664
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly) rs1202464044
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu) rs768085752
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly) rs2153973254
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile) rs1554471456
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala) rs933108692
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn) rs1265607198
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro) rs2096237841
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu) rs542819749
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His) rs755192690
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe) rs138770612
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys) rs1590225545
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp) rs968829958
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile) rs2153972296
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu) rs762392590
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala) rs2096230090
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup) rs886043161
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg) rs374697325
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu) rs374596074
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr) rs1346910826
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn) rs766721753
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser) rs756636517
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr) rs368490158
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu) rs2153970528
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln) rs2096215013
NM_182961.4(SYNE1):c.14416G>A (p.Glu4806Lys) rs746657854
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly) rs2096212044
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile) rs2154279827
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr) rs2096210316
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser) rs2153969748
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met) rs1297328408
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile) rs922999800
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn) rs2096207947
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg) rs753891807
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro) rs2096206184
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln) rs2153969244
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly) rs2096205614
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg) rs780093837
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu) rs1044018341
NM_182961.4(SYNE1):c.148G>A (p.Val50Met) rs1023433513
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val) rs35085679
NM_182961.4(SYNE1):c.14956-19T>A
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly) rs1563087715
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro) rs2153955400
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys) rs533927341
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met) rs2096068834
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala) rs886042595
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr) rs1486769103
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val) rs756766678
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn) rs2154279114
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
NM_182961.4(SYNE1):c.15301G>A (p.Ala5101Thr) rs759275432
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His) rs1432273399
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala) rs2153953000
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu) rs1309063617
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg) rs2153952840
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg) rs2153952625
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val) rs2153949505
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn) rs560155321
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile) rs2096026505
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His) rs751121212
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg) rs758161214
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro) rs752229373
NM_182961.4(SYNE1):c.15615C>T (p.Ile5205=) rs762262465
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile) rs2095955611
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu) rs2095954870
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg) rs1379759625
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg) rs2153938686
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn) rs2095950565
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn) rs1322082202
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu) rs758942889
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val) rs768403781
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr) rs748905719
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu) rs1221150819
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=) rs149215868
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met) rs2153937753
NM_182961.4(SYNE1):c.15917+3A>T rs2153937725
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu) rs1554441847
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
NM_182961.4(SYNE1):c.15952G>A (p.Val5318Met) rs886061203
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp) rs2095874810
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys) rs765080592
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala) rs2095873538
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del) rs1487695655
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala) rs1342214470
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe) rs942561370
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys) rs1320150804
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val) rs2153923807
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
NM_182961.4(SYNE1):c.16236+4A>C
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn) rs2095804308
NM_182961.4(SYNE1):c.1632+3G>A
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu) rs181649865
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val) rs181649865
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val) rs530429418
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln) rs2153899250
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val) rs2153899235
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val) rs2095781749
NM_182961.4(SYNE1):c.1653G>C (p.Lys551Asn) rs886061216
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser) rs1563012099
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn) rs2153893118
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg) rs2095739223
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe) rs1379717748
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro) rs886043922
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys) rs1045463275
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser) rs765080468
NM_182961.4(SYNE1):c.16897-6C>G rs372179792
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
NM_182961.4(SYNE1):c.16923G>A (p.Leu5641=) rs869025528
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys) rs2153836745
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu) rs776905124
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln) rs886043150
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile) rs2095499163
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met) rs1479722158
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser) rs2153836097
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly) rs780396166
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg) rs1192063694
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp) rs138941941
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr) rs775685010
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
NM_182961.4(SYNE1):c.17246A>C (p.His5749Pro) rs2095450657
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys) rs2095448965
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr) rs774018511
NM_182961.4(SYNE1):c.17346+17C>T
NM_182961.4(SYNE1):c.17347-13A>G
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser) rs764611066
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp) rs2153813360
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly) rs2095195177
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln) rs918895767
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly) rs886042413
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His) rs2095191599
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val) rs2153813002
NM_182961.4(SYNE1):c.17521G>A (p.Ala5841Thr) rs2095189465
NM_182961.4(SYNE1):c.17542-5G>A rs776747142
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn) rs1450245566
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala) rs2153809663
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17682+4C>T
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr) rs747150703
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser) rs765300968
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.17850+4A>G rs200922100
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg) rs2153782971
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly) rs1554363340
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys) rs1589456322
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
NM_182961.4(SYNE1):c.18013-3C>T rs2153732604
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) rs147615757
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr) rs2153731962
NM_182961.4(SYNE1):c.18207+13T>G
NM_182961.4(SYNE1):c.18208-4A>G rs1246664941
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys) rs886043015
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys) rs2154269816
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile) rs2153724594
NM_182961.4(SYNE1):c.18381+3A>C rs2153724535
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
NM_182961.4(SYNE1):c.18551A>G (p.His6184Arg) rs2093773675
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
NM_182961.4(SYNE1):c.18569T>A (p.Met6190Lys) rs867471417
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile) rs886044368
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del) rs771543751
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly) rs375829264
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val) rs375829264
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser) rs201685248
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu) rs377307244
NM_182961.4(SYNE1):c.18664A>G (p.Thr6222Ala) rs886061202
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu) rs778929049
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
NM_182961.4(SYNE1):c.18705+6G>A rs2153679070
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
NM_182961.4(SYNE1):c.18725C>A (p.Ala6242Asp) rs2092880052
NM_182961.4(SYNE1):c.18727G>C (p.Glu6243Gln) rs200360218
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn) rs2092878526
NM_182961.4(SYNE1):c.18776T>C (p.Leu6259Pro) rs886061201
NM_182961.4(SYNE1):c.18806G>T (p.Gly6269Val) rs1275027623
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu) rs2092093757
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp) rs778537486
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr) rs771327791
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln) rs376472604
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=) rs1316935433
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg) rs2090949177
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile) rs2090941359
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile) rs2090937224
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe) rs2153628762
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr) rs769911507
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu) rs1554285472
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr) rs1588858602
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp) rs781479222
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg) rs1554756030
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=) rs2090636581
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe) rs966960053
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile) rs2153623229
NM_182961.4(SYNE1):c.19260+3A>G
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr) rs996252466
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn) rs2090468441
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr) rs1315831856
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser) rs2153620062
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg) rs2153619732
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val) rs2154267666
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu) rs779049973
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr) rs2086639076
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys) rs2086635846
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys) rs1290381941
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser) rs147143947
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg) rs2085923878
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr) rs769943207
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
NM_182961.4(SYNE1):c.19893+5A>G rs374102244
NM_182961.4(SYNE1):c.19893+6T>C rs377413112
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys) rs2153551621
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr) rs2085071185
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser) rs770873356
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu) rs578055399
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser) rs1376604930
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly) rs2084228622
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu) rs1189558235
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu) rs765132195
NM_182961.4(SYNE1):c.20136C>G (p.Ile6712Met) rs761906590
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp) rs769305344
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn) rs949257779
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly) rs2153534806
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val) rs2083603543
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val) rs1562385964
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe) rs769820392
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His) rs758105121
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser) rs2083351978
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val) rs369855513
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
NM_182961.4(SYNE1):c.20733T>C (p.Pro6911=) rs2082942186
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly) rs886044105
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu) rs2153517122
NM_182961.4(SYNE1):c.20862+5T>A
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His) rs763904392
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr) rs2082727720
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg) rs2082723314
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys) rs758318901
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser) rs2153509730
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
NM_182961.4(SYNE1):c.21153T>C (p.Ile7051=) rs886061200
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu) rs2098742431
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln) rs771203839
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His) rs1267961945
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu) rs2153509038
NM_182961.4(SYNE1):c.21195+14G>C rs2082553069
NM_182961.4(SYNE1):c.21195+17G>A
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg) rs749981989
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln) rs2081454702
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser) rs1321824454
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr) rs777618601
NM_182961.4(SYNE1):c.21294C>G (p.Ser7098Arg) rs2081442642
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val) rs2153485074
NM_182961.4(SYNE1):c.21351+14C>T rs2081426061
NM_182961.4(SYNE1):c.21351+4A>G rs2081431126
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met) rs775691059
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe) rs776459203
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr) rs369355230
NM_182961.4(SYNE1):c.21501A>G (p.Gln7167=) rs1427603497
NM_182961.4(SYNE1):c.21514A>G (p.Asn7172Asp) rs886061199
NM_182961.4(SYNE1):c.21522+6del
NM_182961.4(SYNE1):c.21522G>C (p.Gln7174His) rs886061198
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys) rs780059512
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr) rs794727041
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
NM_182961.4(SYNE1):c.21783A>C (p.Arg7261=) rs886061197
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe) rs775870306
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg) rs2098742034
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp) rs1377401737
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro) rs2154353751
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg) rs557878312
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His) rs968163245
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser) rs2079440770
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile) rs1588081530
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
NM_182961.4(SYNE1):c.2201C>G (p.Pro734Arg) rs886061215
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
NM_182961.4(SYNE1):c.22044+9C>T rs774609945
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile) rs1199232781
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) rs944485518
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile) rs2154266865
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val) rs1588067419
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) rs886043280
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val) rs2153454164
NM_182961.4(SYNE1):c.22191+4A>G rs2153454005
NM_182961.4(SYNE1):c.22192-14A>G
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile) rs778036632
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser) rs760439015
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp) rs767375107
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys) rs554483231
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del) rs756712103
NM_182961.4(SYNE1):c.22346+6G>A
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu) rs371289584
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly) rs1587952687
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
NM_182961.4(SYNE1):c.22494+4A>G
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
NM_182961.4(SYNE1):c.225+5G>C rs1594697066
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val) rs963496863
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile) rs1554568810
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
NM_182961.4(SYNE1):c.22589+4G>A
NM_182961.4(SYNE1):c.22589+4G>T rs563408259
NM_182961.4(SYNE1):c.22590-3T>C rs1400330082
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val) rs2153409793
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe) rs760818352
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His) rs768489386
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala) rs775028308
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe) rs2076839550
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg) rs2153408771
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly) rs2153408610
NM_182961.4(SYNE1):c.22825-3C>A rs2153398590
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp) rs2153398375
NM_182961.4(SYNE1):c.22873G>A (p.Val7625Met) rs749743156
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser) rs2153398279
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del) rs1360697609
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val) rs555792275
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr) rs776115026
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg) rs993798442
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
NM_182961.4(SYNE1):c.2297T>C (p.Ile766Thr) rs886061214
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr) rs1161832578
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu) rs1201437684
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln) rs768705708
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr) rs767407271
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg) rs1452755990
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg) rs1554518143
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr) rs2153229567
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys) rs138747167
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr) rs886043037
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val) rs200800604
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg) rs2067600593
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys) rs2066481563
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) rs894257787
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val) rs147406318
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr) rs1331488136
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu) rs2153026780
NM_182961.4(SYNE1):c.23666A>G (p.Gln7889Arg) rs2063159798
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg) rs192734406
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser) rs1028548586
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile) rs757122298
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala) rs2063146847
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu) rs2153025842
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr) rs2153025589
NM_182961.4(SYNE1):c.23738T>C (p.Val7913Ala) rs746086003
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His) rs2063133832
NM_182961.4(SYNE1):c.23791-6C>G
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
NM_182961.4(SYNE1):c.23832A>G (p.Ala7944=) rs886061194
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys) rs1554441768
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val) rs766732148
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr) rs1000667542
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) rs1586408465
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met) rs757366114
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg) rs2098714288
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
NM_182961.4(SYNE1):c.24097A>G (p.Thr8033Ala) rs2061108490
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn) rs2152941881
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr) rs2152941858
NM_182961.4(SYNE1):c.24130-3T>C
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His) rs201956180
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
NM_182961.4(SYNE1):c.24252A>G (p.Glu8084=) rs886061193
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu) rs1563054108
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys) rs749473816
NM_182961.4(SYNE1):c.24344C>G (p.Thr8115Ser) rs886061192
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro) rs2152915749
NM_182961.4(SYNE1):c.24379A>T (p.Met8127Leu) rs2060437692
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
NM_182961.4(SYNE1):c.24450+8A>G
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr) rs2098714101
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp) rs36215251
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr) rs201904925
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp) rs1297857077
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr) rs1344598258
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met) rs201799566
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val) rs2152881730
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly) rs759109611
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr) rs2152881229
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala) rs952705892
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu) rs148367376
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met) rs200663180
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn) rs754883031
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp) rs1253089660
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe) rs1554420700
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro) rs532387179
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys) rs2152832436
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu) rs886044213
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
NM_182961.4(SYNE1):c.25120-3C>T rs749447242
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val) rs1421570389
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
NM_182961.4(SYNE1):c.25157C>A (p.Ser8386Tyr) rs1466825112
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly) rs2152810960
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn) rs769976238
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile) rs769976238
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln) rs371211999
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln) rs556231915
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro) rs754937504
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys) rs754577367
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His) rs2152799197
NM_182961.4(SYNE1):c.25443G>C (p.Gln8481His) rs886061191
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val) rs2057180997
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile) rs1404247560
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln) rs1420121296
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg) rs1164254591
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val) rs1260198851
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln) rs544950546
NM_182961.4(SYNE1):c.25788+6A>G
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro) rs2152720317
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His) rs756313747
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser) rs13210845
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser) rs1192925822
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr) rs1554376325
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu) rs2152705585
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
NM_182961.4(SYNE1):c.26153+6T>C
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe) rs1585315718
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu) rs1554349162
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu) rs2295192
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr) rs1258213221
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del) rs1310428962
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val) rs983040762
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu) rs2051624339
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys) rs567376316
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser) rs754932611
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg) rs373633207
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met) rs373633207
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
NM_182961.4(SYNE1):c.2728-14T>C
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) rs141214076
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val) rs756151309
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr) rs746476950
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly) rs2098689694
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu) rs2154257288
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln) rs2154257153
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro) rs1564137172
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr) rs771446969
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
NM_182961.4(SYNE1):c.3055T>C (p.Leu1019=) rs2098645628
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala) rs776586157
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg) rs369619658
NM_182961.4(SYNE1):c.309+3A>G rs2099133351
NM_182961.4(SYNE1):c.309+5G>C rs2154348308
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser) rs925892033
NM_182961.4(SYNE1):c.310-482C>T rs561359644
NM_182961.4(SYNE1):c.310-7T>A rs1341089745
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys) rs545152377
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met) rs1592962615
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe) rs2098641244
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr) rs2098640852
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp) rs2154250248
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn) rs377684975
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser) rs1194769025
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly) rs886044019
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr) rs1352916426
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu) rs1592939078
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu) rs201354687
NM_182961.4(SYNE1):c.3504+5G>C rs1398879746
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys) rs2098603484
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile) rs2154244956
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
NM_182961.4(SYNE1):c.3723C>G (p.Val1241=) rs1041302788
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys) rs775456029
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln) rs2154239333
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly) rs2099690291
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg) rs1350747356
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro) rs1417438989
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg) rs911005692
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His) rs371842938
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu) rs371842938
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp) rs1465224604
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
NM_182961.4(SYNE1):c.4008+5G>T rs1350714036
NM_182961.4(SYNE1):c.403-10T>G rs886061219
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr) rs998116525
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn) rs1554707111
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro) rs1554696981
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys) rs2098471423
NM_182961.4(SYNE1):c.4189G>C (p.Glu1397Gln) rs149918889
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly) rs779044367
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys) rs139798419
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn) rs886044260
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro) rs2154210873
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser) rs2154210826
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr) rs1350630909
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
NM_182961.4(SYNE1):c.4461+6C>T rs776194459
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile) rs2154201681
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis) rs2098420279
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu) rs1554687302
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg) rs141597053
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys) rs1209224800
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu) rs1187109031
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr) rs1487588055
NM_182961.4(SYNE1):c.4650T>G (p.His1550Gln) rs1295935097
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His) rs144533000
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val) rs1554686616
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His) rs2154201077
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala) rs2154201070
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu) rs2098415660
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser) rs1394715779
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala) rs749571011
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
NM_182961.4(SYNE1):c.4789-3T>C rs1228194784
NM_182961.4(SYNE1):c.487A>T (p.Thr163Ser) rs886061218
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val) rs1268913905
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys) rs2154197911
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro) rs749115727
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu) rs779239788
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe) rs2098338003
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val) rs202081505
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp) rs2154194638
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=) rs2098221960
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln) rs749200824
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu) rs1289357494
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp) rs763296949
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys) rs778264930
NM_182961.4(SYNE1):c.553T>C (p.Leu185=) rs2099078168
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met) rs2154182549
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys) rs376693048
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His) rs1305356670
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly) rs757761843
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg) rs989623011
NM_182961.4(SYNE1):c.5693A>C (p.Asn1898Thr) rs917922270
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly) rs2154182301
NM_182961.4(SYNE1):c.5728A>G (p.Asn1910Asp) rs1459660658
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp) rs555846215
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val) rs2154182197
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met) rs1384241452
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
NM_182961.4(SYNE1):c.581+3A>T
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg) rs2099078036
NM_182961.4(SYNE1):c.582-12T>C
NM_182961.4(SYNE1):c.5820G>A (p.Gly1940=) rs773819434
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly) rs963256304
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln) rs2098157118
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly) rs762574786
NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val) rs2098156852
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro) rs1199419170
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
NM_182961.4(SYNE1):c.6128A>T (p.Lys2043Met) rs1015453687
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn) rs774941465
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser) rs2154176994
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu) rs542032376
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys) rs2154176931
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys) rs2097980458
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile) rs760835706
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr) rs200640405
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
NM_182961.4(SYNE1):c.6412A>G (p.Lys2138Glu) rs2097962380
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala) rs1564513288
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
NM_182961.4(SYNE1):c.6541-12T>A rs2097913765
NM_182961.4(SYNE1):c.6560A>G (p.Glu2187Gly) rs886061211
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu) rs146053885
NM_182961.4(SYNE1):c.661C>A (p.Arg221=) rs750266004
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys) rs2154165420
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser) rs2099051828
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val) rs2097912504
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr) rs2154165359
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
NM_182961.4(SYNE1):c.6739A>G (p.Lys2247Glu) rs1374881204
NM_182961.4(SYNE1):c.68-14C>A rs554675581
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe) rs867285350
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala) rs1384232957
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val) rs2154150998
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly) rs1395736433
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser) rs2097810439
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val) rs1250755900
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr) rs1317403604
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu) rs1564735123
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
NM_182961.4(SYNE1):c.7030-14C>T rs1257361080
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser) rs776339735
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser) rs766789322
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro) rs1244195756
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr) rs780924006
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val) rs2097770762
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly) rs370082646
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr) rs2154145830
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn) rs770329883
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe) rs757562714
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu) rs1384323646
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly) rs371796151
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala) rs2154331462
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu) rs756083446
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met) rs550027519
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His) rs2097719630
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys) rs2154141021
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn) rs2097719253
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val) rs1382595953
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu) rs761902124
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly) rs1591742558
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg) rs2097627280
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys) rs147040672
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln) rs370644295
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys) rs577888458
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg) rs2154133685
NM_182961.4(SYNE1):c.8005-7_8005-6insA
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val) rs1563634104
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
NM_182961.4(SYNE1):c.8065G>A (p.Glu2689Lys) rs766019755
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro) rs1591716331
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu) rs2097590125
NM_182961.4(SYNE1):c.8124G>C (p.Glu2708Asp) rs886061208
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val) rs765054617
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly) rs886044469
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys) rs2099036274
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu) rs1438857220
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln) rs770073509
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly) rs1554878579
NM_182961.4(SYNE1):c.8468A>T (p.Asp2823Val)
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
NM_182961.4(SYNE1):c.8487+6T>C rs2097536510
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys) rs577620830
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly) rs757720748
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe) rs2097516831
NM_182961.4(SYNE1):c.8652+3C>T
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val) rs1184722528
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp) rs576979843
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly) rs372633466
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys) rs372633466
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr) rs2154115485
NM_182961.4(SYNE1):c.888+4G>A rs749258298
NM_182961.4(SYNE1):c.8882A>G (p.Gln2961Arg) rs1366579684
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu) rs2097406538
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp) rs570962334
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val) rs2154319036
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
NM_182961.4(SYNE1):c.9009+5G>T rs1252397404
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr) rs910446340
NM_182961.4(SYNE1):c.9074A>T (p.Glu3025Val) rs1591451162
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser) rs1554580101
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr) rs2154103548
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val) rs761071366
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
NM_182961.4(SYNE1):c.9220A>G (p.Arg3074Gly) rs2097283597
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu) rs1391282600
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val) rs2154103329
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln) rs2154097171
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro) rs1563477104
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys) rs138481762
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile) rs1554795128
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn) rs369574011
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp) rs6913579
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu) rs2154085901
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile) rs1563437567
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile) rs768692140
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln) rs751257864
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys) rs2154085638
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
NM_182961.4(SYNE1):c.9679G>C (p.Glu3227Gln) rs1024177161
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser) rs1563432555
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser) rs753548717
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn) rs886061206
NM_182961.4(SYNE1):c.9746G>C (p.Ser3249Thr) rs886061206
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr) rs745707616
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr) rs1247321590
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly) rs2154300492

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