ClinVar Miner

List of variants in gene SYNJ1 studied for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53

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ClinVar version:
Total variants: 1245
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) rs2254562 0.29094
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_203446.3(SYNJ1):c.3588+14C>T rs11702774 0.16837
NM_203446.3(SYNJ1):c.1201-3A>T rs844988 0.08382
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) rs2230766 0.07370
NM_203446.3(SYNJ1):c.479+9A>G rs76502784 0.03297
NM_203446.3(SYNJ1):c.3915+5G>T rs61750220 0.01369
NM_203446.3(SYNJ1):c.*329G>A rs61750217 0.00954
NM_203446.3(SYNJ1):c.*611C>T rs76056543 0.00609
NM_203446.3(SYNJ1):c.1119-8G>T rs138882423 0.00462
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) rs61756694 0.00406
NM_203446.3(SYNJ1):c.*728C>T rs2230767 0.00284
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) rs114942253 0.00255
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile) rs115683257 0.00245
NM_203446.3(SYNJ1):c.*315G>A rs145347648 0.00241
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile) rs113708828 0.00230
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_203446.3(SYNJ1):c.*4G>A rs115648918 0.00158
NM_203446.3(SYNJ1):c.*761C>T rs111516740 0.00143
NM_203446.3(SYNJ1):c.*223A>G rs113978322 0.00139
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly) rs149817769 0.00105
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=) rs61753644 0.00088
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr) rs147929290 0.00074
NM_203446.3(SYNJ1):c.*732C>T rs148676465 0.00068
NM_203446.3(SYNJ1):c.*552G>A rs146425050 0.00064
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp) rs142964720 0.00051
NM_203446.3(SYNJ1):c.706-11T>C rs150213884 0.00049
NM_203446.3(SYNJ1):c.705+7A>G rs187016397 0.00040
NM_203446.3(SYNJ1):c.*186_*187insAATAC rs869265580 0.00039
NM_203446.3(SYNJ1):c.*443G>A rs532034867 0.00037
NM_203446.3(SYNJ1):c.*312C>T rs149199429 0.00036
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn) rs533216340 0.00032
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=) rs115658799 0.00030
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=) rs145522240 0.00026
NM_203446.3(SYNJ1):c.125-17A>G rs113560074 0.00024
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=) rs111774827 0.00024
NM_203446.3(SYNJ1):c.*333C>T rs548047319 0.00023
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr) rs114053718 0.00021
NM_203446.3(SYNJ1):c.2875-5G>A rs376206541 0.00021
NM_203446.3(SYNJ1):c.1726+18T>C rs780148215 0.00019
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro) rs77164494 0.00019
NM_203446.3(SYNJ1):c.-23+15G>A rs546859861 0.00018
NM_203446.3(SYNJ1):c.1953-10T>C rs368736353 0.00018
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=) rs574473408 0.00018
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=) rs764207431 0.00017
NM_203446.3(SYNJ1):c.3517+13G>C rs370311881 0.00016
NM_203446.3(SYNJ1):c.3697+10C>G rs548819939 0.00016
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu) rs149288077 0.00016
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=) rs140461566 0.00016
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=) rs151248057 0.00016
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=) rs148732160 0.00016
NM_203446.3(SYNJ1):c.-34C>T rs968709804 0.00014
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly) rs147931121 0.00014
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=) rs76972835 0.00013
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile) rs145712835 0.00013
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=) rs267606107 0.00013
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) rs150595970 0.00012
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu) rs147025577 0.00012
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn) rs147684005 0.00011
NM_203446.3(SYNJ1):c.2795+16T>A rs533093953 0.00011
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) rs61752559 0.00011
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser) rs151126056 0.00011
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala) rs199750187 0.00011
NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu) rs752120549 0.00011
NM_203446.3(SYNJ1):c.-47G>C rs1018405878 0.00010
NM_203446.3(SYNJ1):c.-57T>G rs921606190 0.00010
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=) rs540183181 0.00010
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr) rs145978776 0.00010
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser) rs779059079 0.00010
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr) rs774367309 0.00010
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly) rs148901211 0.00009
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=) rs149236383 0.00009
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=) rs547415470 0.00009
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=) rs201117151 0.00009
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg) rs546986773 0.00009
NM_203446.3(SYNJ1):c.2304+20A>G rs142813430 0.00008
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=) rs115263361 0.00008
NM_203446.3(SYNJ1):c.2795+10T>C rs756959605 0.00008
NM_203446.3(SYNJ1):c.2874+6G>A rs368204504 0.00008
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=) rs369978981 0.00008
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=) rs143244716 0.00007
NM_203446.3(SYNJ1):c.3588+20G>A rs1001527639 0.00007
NM_203446.3(SYNJ1):c.*257G>T rs112469776 0.00006
NM_203446.3(SYNJ1):c.*411C>T rs369666497 0.00006
NM_203446.3(SYNJ1):c.*709C>T rs912535820 0.00006
NM_203446.3(SYNJ1):c.-31G>C rs751083536 0.00006
NM_203446.3(SYNJ1):c.-42A>G rs988950141 0.00006
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly) rs202234473 0.00006
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn) rs147544792 0.00006
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=) rs111655347 0.00006
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His) rs756697570 0.00006
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=) rs140112176 0.00006
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=) rs112875942 0.00006
NM_203446.3(SYNJ1):c.2580-20A>G rs770095122 0.00006
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln) rs371117480 0.00006
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr) rs537389515 0.00006
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=) rs534726886 0.00006
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile) rs527362526 0.00006
NM_203446.3(SYNJ1):c.3392-5A>G rs776721216 0.00006
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu) rs61752550 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu) rs141785091 0.00006
NM_203446.3(SYNJ1):c.517G>A (p.Val173Met) rs756663722 0.00006
NM_203446.3(SYNJ1):c.*618A>G rs139212871 0.00005
NM_203446.3(SYNJ1):c.*690G>A rs559102258 0.00005
NM_203446.3(SYNJ1):c.*721C>T rs748387512 0.00005
NM_203446.3(SYNJ1):c.1119-7G>C rs562245468 0.00005
NM_203446.3(SYNJ1):c.1510+20T>C rs112067922 0.00005
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val) rs115989459 0.00005
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=) rs144454116 0.00005
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp) rs149147152 0.00005
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=) rs115204185 0.00005
NM_203446.3(SYNJ1):c.3370C>G (p.Gln1124Glu) rs768503724 0.00005
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=) rs376132504 0.00005
NM_203446.2(SYNJ1):c.7A>C (p.Lys3Gln) rs1037328706 0.00004
NM_203446.3(SYNJ1):c.*41C>T rs570298309 0.00004
NM_203446.3(SYNJ1):c.*541G>A rs770188528 0.00004
NM_203446.3(SYNJ1):c.*793G>T rs536572904 0.00004
NM_203446.3(SYNJ1):c.-12G>T rs1040540690 0.00004
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala) rs370817503 0.00004
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=) rs534908601 0.00004
NM_203446.3(SYNJ1):c.211+19A>G rs553611765 0.00004
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=) rs753774552 0.00004
NM_203446.3(SYNJ1):c.2396G>C (p.Cys799Ser) rs148265063 0.00004
NM_203446.3(SYNJ1):c.2461+4G>A rs538934316 0.00004
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=) rs771973400 0.00004
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile) rs546854566 0.00004
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg) rs755535504 0.00004
NM_203446.3(SYNJ1):c.3248-18C>T rs538157711 0.00004
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=) rs923667676 0.00004
NM_203446.3(SYNJ1):c.3391+6A>C rs745914222 0.00004
NM_203446.3(SYNJ1):c.3392-20A>G rs375300586 0.00004
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln) rs768435291 0.00004
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His) rs376836481 0.00004
NM_203446.3(SYNJ1):c.3811A>G (p.Met1271Val) rs751069566 0.00004
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter) rs747261340 0.00004
NM_203446.3(SYNJ1):c.480-17A>C rs1030947495 0.00004
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=) rs763090745 0.00004
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val) rs1046699971 0.00004
NM_203446.3(SYNJ1):c.*598C>A rs770865984 0.00003
NM_203446.3(SYNJ1):c.*666A>G rs763776246 0.00003
NM_203446.3(SYNJ1):c.*704C>G rs367591704 0.00003
NM_203446.3(SYNJ1):c.*707C>T rs1210163373 0.00003
NM_203446.3(SYNJ1):c.*729G>A rs771278245 0.00003
NM_203446.3(SYNJ1):c.*733G>A rs758953009 0.00003
NM_203446.3(SYNJ1):c.*738C>T rs747245690 0.00003
NM_203446.3(SYNJ1):c.-22-10G>A rs375719186 0.00003
NM_203446.3(SYNJ1):c.-23+11C>T rs1000113626 0.00003
NM_203446.3(SYNJ1):c.-83A>G rs775805673 0.00003
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=) rs763601982 0.00003
NM_203446.3(SYNJ1):c.125-13del rs763797914 0.00003
NM_203446.3(SYNJ1):c.1402T>G (p.Phe468Val) rs376762817 0.00003
NM_203446.3(SYNJ1):c.1511-4A>G rs533995497 0.00003
NM_203446.3(SYNJ1):c.1534+16T>A rs1244807022 0.00003
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=) rs150180190 0.00003
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=) rs141138675 0.00003
NM_203446.3(SYNJ1):c.1868A>G (p.Asn623Ser) rs1298315820 0.00003
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr) rs748690832 0.00003
NM_203446.3(SYNJ1):c.2146-8G>A rs759701632 0.00003
NM_203446.3(SYNJ1):c.2171A>G (p.Tyr724Cys) rs201485861 0.00003
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=) rs566533509 0.00003
NM_203446.3(SYNJ1):c.243C>T (p.Val81=) rs769645055 0.00003
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met) rs560413403 0.00003
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=) rs746832641 0.00003
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala) rs779943757 0.00003
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile) rs377350366 0.00003
NM_203446.3(SYNJ1):c.2685A>G (p.Thr895=) rs939655575 0.00003
NM_203446.3(SYNJ1):c.2792T>C (p.Ile931Thr) rs932390799 0.00003
NM_203446.3(SYNJ1):c.3037+18A>G rs780721031 0.00003
NM_203446.3(SYNJ1):c.3209G>A (p.Arg1070Gln) rs141107054 0.00003
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) rs551070196 0.00003
NM_203446.3(SYNJ1):c.3301C>G (p.Gln1101Glu) rs763783154 0.00003
NM_203446.3(SYNJ1):c.3320G>A (p.Arg1107Gln) rs917502531 0.00003
NM_203446.3(SYNJ1):c.3392-8A>T rs533064963 0.00003
NM_203446.3(SYNJ1):c.3431-8C>A rs369584002 0.00003
NM_203446.3(SYNJ1):c.3581C>G (p.Ala1194Gly) rs779766895 0.00003
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser) rs760863245 0.00003
NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr) rs769125182 0.00003
NM_203446.3(SYNJ1):c.3691T>C (p.Ser1231Pro) rs767695759 0.00003
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp) rs771507886 0.00003
NM_203446.3(SYNJ1):c.470G>C (p.Arg157Thr) rs375831365 0.00003
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His) rs763977309 0.00003
NM_203446.3(SYNJ1):c.630A>T (p.Glu210Asp) rs1377390036 0.00003
NM_203446.3(SYNJ1):c.705+17A>G rs751404810 0.00003
NM_203446.3(SYNJ1):c.706-19A>G rs544943206 0.00003
NM_203446.3(SYNJ1):c.790-20A>G rs754054175 0.00003
NM_203446.3(SYNJ1):c.*110C>T rs959757570 0.00002
NM_203446.3(SYNJ1):c.*119C>T rs547772465 0.00002
NM_203446.3(SYNJ1):c.*148A>C rs777068962 0.00002
NM_203446.3(SYNJ1):c.*152T>C rs982743558 0.00002
NM_203446.3(SYNJ1):c.*233G>A rs765410501 0.00002
NM_203446.3(SYNJ1):c.*278T>G rs61750218 0.00002
NM_203446.3(SYNJ1):c.*491A>C rs776115769 0.00002
NM_203446.3(SYNJ1):c.*602G>A rs375352780 0.00002
NM_203446.3(SYNJ1):c.*613A>G rs769954720 0.00002
NM_203446.3(SYNJ1):c.*720T>C rs1016040846 0.00002
NM_203446.3(SYNJ1):c.*737C>G rs746226206 0.00002
NM_203446.3(SYNJ1):c.*762G>A rs763042220 0.00002
NM_203446.3(SYNJ1):c.*9A>G rs758118019 0.00002
NM_203446.3(SYNJ1):c.-49A>G rs780877494 0.00002
NM_203446.3(SYNJ1):c.-59G>A rs771338654 0.00002
NM_203446.3(SYNJ1):c.-64C>T rs869206401 0.00002
NM_203446.3(SYNJ1):c.-68G>A rs746182035 0.00002
NM_203446.3(SYNJ1):c.-73C>G rs772641102 0.00002
NM_203446.3(SYNJ1):c.1100A>G (p.Asn367Ser) rs562660511 0.00002
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=) rs779977140 0.00002
NM_203446.3(SYNJ1):c.1195T>G (p.Leu399Val) rs1302356872 0.00002
NM_203446.3(SYNJ1):c.1228G>C (p.Gly410Arg) rs745972290 0.00002
NM_203446.3(SYNJ1):c.1306A>G (p.Ile436Val) rs763870801 0.00002
NM_203446.3(SYNJ1):c.1346A>G (p.Lys449Arg) rs772361584 0.00002
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=) rs1314584710 0.00002
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=) rs1384171922 0.00002
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp) rs377719553 0.00002
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=) rs747138067 0.00002
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp) rs372488661 0.00002
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=) rs987102051 0.00002
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val) rs761614356 0.00002
NM_203446.3(SYNJ1):c.2145+13T>C rs779562990 0.00002
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu) rs2040867077 0.00002
NM_203446.3(SYNJ1):c.2264T>C (p.Ile755Thr) rs766613161 0.00002
NM_203446.3(SYNJ1):c.2302C>G (p.Gln768Glu) rs200612458 0.00002
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=) rs766117241 0.00002
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=) rs374390032 0.00002
NM_203446.3(SYNJ1):c.2399G>A (p.Arg800His) rs748767686 0.00002
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr) rs753305423 0.00002
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=) rs771107718 0.00002
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=) rs1432339434 0.00002
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=) rs879835661 0.00002
NM_203446.3(SYNJ1):c.2981C>A (p.Thr994Lys) rs776726487 0.00002
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys) rs967674859 0.00002
NM_203446.3(SYNJ1):c.3179C>G (p.Pro1060Arg) rs1430500307 0.00002
NM_203446.3(SYNJ1):c.3215C>A (p.Pro1072Gln) rs771524798 0.00002
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=) rs1436978655 0.00002
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu) rs765746949 0.00002
NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys) rs370189840 0.00002
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys) rs1367145848 0.00002
NM_203446.3(SYNJ1):c.3550G>C (p.Ala1184Pro) rs772565258 0.00002
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=) rs771394723 0.00002
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=) rs576444776 0.00002
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly) rs139146760 0.00002
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met) rs752805765 0.00002
NM_203446.3(SYNJ1):c.3693G>A (p.Ser1231=) rs755437097 0.00002
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro) rs548516848 0.00002
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=) rs765653482 0.00002
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=) rs759164699 0.00002
NM_203446.3(SYNJ1):c.409A>G (p.Ile137Val) rs780191673 0.00002
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly) rs565807712 0.00002
NM_203446.3(SYNJ1):c.480-18T>G rs1242153000 0.00002
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser) rs371958110 0.00002
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=) rs376985894 0.00002
NM_203446.3(SYNJ1):c.685A>C (p.Asn229His) rs1430187026 0.00002
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His) rs201796096 0.00002
NM_203446.3(SYNJ1):c.851+5G>A rs758443410 0.00002
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val) rs775110785 0.00002
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile) rs749045961 0.00002
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs) rs1227986180 0.00001
NM_203446.2(SYNJ1):c.9G>A (p.Lys3=) rs1250657533 0.00001
NM_203446.3(SYNJ1):c.*108A>G rs371381727 0.00001
NM_203446.3(SYNJ1):c.*109T>C rs766434591 0.00001
NM_203446.3(SYNJ1):c.*120G>A rs377721268 0.00001
NM_203446.3(SYNJ1):c.*124C>T rs770180376 0.00001
NM_203446.3(SYNJ1):c.*127G>C rs1342453394 0.00001
NM_203446.3(SYNJ1):c.*132C>A rs373469623 0.00001
NM_203446.3(SYNJ1):c.*174G>A rs745464855 0.00001
NM_203446.3(SYNJ1):c.*187T>C rs748722673 0.00001
NM_203446.3(SYNJ1):c.*195T>G rs1323976540 0.00001
NM_203446.3(SYNJ1):c.*212C>T rs754791304 0.00001
NM_203446.3(SYNJ1):c.*21C>A rs756737216 0.00001
NM_203446.3(SYNJ1):c.*232C>T rs373563239 0.00001
NM_203446.3(SYNJ1):c.*235A>C rs769099271 0.00001
NM_203446.3(SYNJ1):c.*253A>G rs1398328287 0.00001
NM_203446.3(SYNJ1):c.*256C>T rs565341830 0.00001
NM_203446.3(SYNJ1):c.*265C>A rs769312346 0.00001
NM_203446.3(SYNJ1):c.*270C>T rs748033451 0.00001
NM_203446.3(SYNJ1):c.*277A>G rs781139343 0.00001
NM_203446.3(SYNJ1):c.*319G>C rs565075239 0.00001
NM_203446.3(SYNJ1):c.*320C>T rs116810192 0.00001
NM_203446.3(SYNJ1):c.*347A>G rs1245095366 0.00001
NM_203446.3(SYNJ1):c.*388G>A rs1283277174 0.00001
NM_203446.3(SYNJ1):c.*390G>A rs769253550 0.00001
NM_203446.3(SYNJ1):c.*393C>T rs140696929 0.00001
NM_203446.3(SYNJ1):c.*469T>C rs753264526 0.00001
NM_203446.3(SYNJ1):c.*513T>C rs373455294 0.00001
NM_203446.3(SYNJ1):c.*519C>T rs2039314679 0.00001
NM_203446.3(SYNJ1):c.*522G>A rs777945782 0.00001
NM_203446.3(SYNJ1):c.*540C>T rs141012977 0.00001
NM_203446.3(SYNJ1):c.*638C>T rs755473642 0.00001
NM_203446.3(SYNJ1):c.*644A>G rs1358594027 0.00001
NM_203446.3(SYNJ1):c.*665C>G rs150753892 0.00001
NM_203446.3(SYNJ1):c.*689C>T rs766938091 0.00001
NM_203446.3(SYNJ1):c.*741C>T rs1281984634 0.00001
NM_203446.3(SYNJ1):c.*75A>G rs756090874 0.00001
NM_203446.3(SYNJ1):c.*763A>G rs778073626 0.00001
NM_203446.3(SYNJ1):c.*798T>C rs1007414965 0.00001
NM_203446.3(SYNJ1):c.*806G>A rs772562248 0.00001
NM_203446.3(SYNJ1):c.-19T>A rs1447119337 0.00001
NM_203446.3(SYNJ1):c.-23+19G>A rs2043549128 0.00001
NM_203446.3(SYNJ1):c.-23+20G>A rs1022879813 0.00001
NM_203446.3(SYNJ1):c.-23G>C rs1195858283 0.00001
NM_203446.3(SYNJ1):c.-37G>A rs1297512201 0.00001
NM_203446.3(SYNJ1):c.-56G>T rs1486511197 0.00001
NM_203446.3(SYNJ1):c.-61C>T rs932881262 0.00001
NM_203446.3(SYNJ1):c.-62G>A rs984402214 0.00001
NM_203446.3(SYNJ1):c.-63G>A rs779276328 0.00001
NM_203446.3(SYNJ1):c.-7_-5del rs1463472857 0.00001
NM_203446.3(SYNJ1):c.-81G>T rs907760868 0.00001
NM_203446.3(SYNJ1):c.-86G>A rs768854034 0.00001
NM_203446.3(SYNJ1):c.1004A>C (p.Tyr335Ser) rs1469620917 0.00001
NM_203446.3(SYNJ1):c.1118+7C>T rs752329632 0.00001
NM_203446.3(SYNJ1):c.1118+9G>A rs1241098561 0.00001
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=) rs747274485 0.00001
NM_203446.3(SYNJ1):c.1201-20T>G rs1421070500 0.00001
NM_203446.3(SYNJ1):c.1201-2A>G rs1569086116 0.00001
NM_203446.3(SYNJ1):c.121C>T (p.Leu41Phe) rs745374780 0.00001
NM_203446.3(SYNJ1):c.124+3A>G rs1348650614 0.00001
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=) rs1256463338 0.00001
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=) rs919941488 0.00001
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met) rs749980859 0.00001
NM_203446.3(SYNJ1):c.1315A>G (p.Ile439Val) rs1569085743 0.00001
NM_203446.3(SYNJ1):c.1318T>C (p.Tyr440His) rs1454342974 0.00001
NM_203446.3(SYNJ1):c.1369C>T (p.Arg457Cys) rs2041512386 0.00001
NM_203446.3(SYNJ1):c.1370G>A (p.Arg457His) rs1453138219 0.00001
NM_203446.3(SYNJ1):c.1400T>A (p.Phe467Tyr) rs922232672 0.00001
NM_203446.3(SYNJ1):c.1427T>C (p.Ile476Thr) rs771070426 0.00001
NM_203446.3(SYNJ1):c.1481G>A (p.Arg494Gln) rs781599934 0.00001
NM_203446.3(SYNJ1):c.1507C>T (p.Arg503Cys) rs115061921 0.00001
NM_203446.3(SYNJ1):c.1554G>C (p.Lys518Asn) rs371301276 0.00001
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=) rs144728528 0.00001
NM_203446.3(SYNJ1):c.1601G>A (p.Arg534Gln) rs750585610 0.00001
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=) rs753893833 0.00001
NM_203446.3(SYNJ1):c.1645C>T (p.Arg549Cys) rs2041280422 0.00001
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=) rs1461901564 0.00001
NM_203446.3(SYNJ1):c.1697C>T (p.Pro566Leu) rs141001350 0.00001
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=) rs749212329 0.00001
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=) rs371628726 0.00001
NM_203446.3(SYNJ1):c.1825A>C (p.Lys609Gln) rs760221186 0.00001
NM_203446.3(SYNJ1):c.1832G>T (p.Trp611Leu) rs1481650772 0.00001
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=) rs1601348530 0.00001
NM_203446.3(SYNJ1):c.1880T>C (p.Leu627Pro) rs1425713908 0.00001
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val) rs773372851 0.00001
NM_203446.3(SYNJ1):c.193G>A (p.Val65Ile) rs375254567 0.00001
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=) rs574400482 0.00001
NM_203446.3(SYNJ1):c.200G>A (p.Arg67Gln) rs969446324 0.00001
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly) rs751110096 0.00001
NM_203446.3(SYNJ1):c.2090T>C (p.Val697Ala) rs764946363 0.00001
NM_203446.3(SYNJ1):c.211G>C (p.Gly71Arg) rs1569113660 0.00001
NM_203446.3(SYNJ1):c.2126G>A (p.Arg709Gln) rs142478967 0.00001
NM_203446.3(SYNJ1):c.2146-14C>G rs775638018 0.00001
NM_203446.3(SYNJ1):c.2165A>C (p.His722Pro) rs867547488 0.00001
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln) rs1404522896 0.00001
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=) rs924156740 0.00001
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val) rs762562029 0.00001
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=) rs2040867289 0.00001
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=) rs142455194 0.00001
NM_203446.3(SYNJ1):c.2304+9A>G rs1569062470 0.00001
NM_203446.3(SYNJ1):c.2332G>A (p.Val778Ile) rs762956275 0.00001
NM_203446.3(SYNJ1):c.2372A>G (p.Asp791Gly) rs1195357077 0.00001
NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys) rs1283151166 0.00001
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=) rs755696516 0.00001
NM_203446.3(SYNJ1):c.2446C>T (p.Pro816Ser) rs1473591033 0.00001
NM_203446.3(SYNJ1):c.2453A>G (p.Asp818Gly) rs1204628755 0.00001
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
NM_203446.3(SYNJ1):c.255G>T (p.Met85Ile) rs1198340069 0.00001
NM_203446.3(SYNJ1):c.2567C>A (p.Thr856Asn) rs1191504880 0.00001
NM_203446.3(SYNJ1):c.25A>G (p.Ile9Val) rs757895747 0.00001
NM_203446.3(SYNJ1):c.2603T>C (p.Ile868Thr) rs542283936 0.00001
NM_203446.3(SYNJ1):c.2604A>G (p.Ile868Met) rs377165480 0.00001
NM_203446.3(SYNJ1):c.2713C>A (p.Pro905Thr) rs2040473157 0.00001
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser) rs542405957 0.00001
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr) rs867564053 0.00001
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile) rs1327987813 0.00001
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr) rs755258923 0.00001
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs) rs778394516 0.00001
NM_203446.3(SYNJ1):c.2795+7T>C rs780616248 0.00001
NM_203446.3(SYNJ1):c.2818G>T (p.Val940Phe) rs890538025 0.00001
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=) rs374794895 0.00001
NM_203446.3(SYNJ1):c.2875-20T>C rs187333014 0.00001
NM_203446.3(SYNJ1):c.2875-4C>A rs1231504349 0.00001
NM_203446.3(SYNJ1):c.2875-6C>T rs183558612 0.00001
NM_203446.3(SYNJ1):c.2882A>G (p.Asn961Ser) rs754401787 0.00001
NM_203446.3(SYNJ1):c.2896A>G (p.Ile966Val) rs1601283648 0.00001
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val) rs1372258834 0.00001
NM_203446.3(SYNJ1):c.290G>A (p.Arg97Gln) rs758406227 0.00001
NM_203446.3(SYNJ1):c.2954A>G (p.Lys985Arg) rs1325187801 0.00001
NM_203446.3(SYNJ1):c.2996T>A (p.Leu999His) rs1601283152 0.00001
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr) rs911362591 0.00001
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=) rs1445704945 0.00001
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu) rs115353088 0.00001
NM_203446.3(SYNJ1):c.3049G>T (p.Asp1017Tyr) rs2040081654 0.00001
NM_203446.3(SYNJ1):c.3187T>C (p.Ser1063Pro) rs767636058 0.00001
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=) rs763564076 0.00001
NM_203446.3(SYNJ1):c.3196A>G (p.Ile1066Val) rs773437219 0.00001
NM_203446.3(SYNJ1):c.320G>A (p.Arg107Gln) rs757734263 0.00001
NM_203446.3(SYNJ1):c.3266A>G (p.Gln1089Arg) rs779932426 0.00001
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=) rs1299635688 0.00001
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=) rs1282370368 0.00001
NM_203446.3(SYNJ1):c.3304C>T (p.Pro1102Ser) rs1368672974 0.00001
NM_203446.3(SYNJ1):c.3318G>C (p.Lys1106Asn) rs1172188985 0.00001
NM_203446.3(SYNJ1):c.3324G>A (p.Pro1108=) rs757804939 0.00001
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=) rs372510070 0.00001
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser) rs1274970038 0.00001
NM_203446.3(SYNJ1):c.3391+15T>A rs754412906 0.00001
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu) rs569046864 0.00001
NM_203446.3(SYNJ1):c.3430+12C>T rs1468489631 0.00001
NM_203446.3(SYNJ1):c.3431-10C>T rs774777679 0.00001
NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys) rs561276644 0.00001
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala) rs1473250864 0.00001
NM_203446.3(SYNJ1):c.3517+10C>T rs1373208718 0.00001
NM_203446.3(SYNJ1):c.3518-17T>C rs773319067 0.00001
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=) rs144142216 0.00001
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr) rs1336877948 0.00001
NM_203446.3(SYNJ1):c.3588+15G>A rs540863552 0.00001
NM_203446.3(SYNJ1):c.3588+5G>A rs1050566897 0.00001
NM_203446.3(SYNJ1):c.3598C>T (p.Pro1200Ser) rs1339413028 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_203446.3(SYNJ1):c.3604G>T (p.Ala1202Ser) rs543639398 0.00001
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val) rs386352368 0.00001
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=) rs745882722 0.00001
NM_203446.3(SYNJ1):c.3680C>G (p.Thr1227Arg) rs1275854378 0.00001
NM_203446.3(SYNJ1):c.3703A>G (p.Thr1235Ala) rs781066636 0.00001
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=) rs781500048 0.00001
NM_203446.3(SYNJ1):c.3766C>T (p.Pro1256Ser) rs138334718 0.00001
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=) rs750931400 0.00001
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg) rs767170641 0.00001
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=) rs2039703499 0.00001
NM_203446.3(SYNJ1):c.3915+10A>G rs1167944043 0.00001
NM_203446.3(SYNJ1):c.409A>T (p.Ile137Phe) rs780191673 0.00001
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val) rs111886678 0.00001
NM_203446.3(SYNJ1):c.437A>G (p.His146Arg) rs2042338087 0.00001
NM_203446.3(SYNJ1):c.439C>T (p.Arg147Cys) rs1462349719 0.00001
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His) rs749741780 0.00001
NM_203446.3(SYNJ1):c.480-7C>T rs748707134 0.00001
NM_203446.3(SYNJ1):c.549G>A (p.Met183Ile) rs760573856 0.00001
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser) rs903887015 0.00001
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp) rs1423467857 0.00001
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys) rs771210989 0.00001
NM_203446.3(SYNJ1):c.614C>T (p.Ser205Leu) rs747414228 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NM_203446.3(SYNJ1):c.706-7T>C rs1482528429 0.00001
NM_203446.3(SYNJ1):c.706-8T>C rs752261171 0.00001
NM_203446.3(SYNJ1):c.711G>A (p.Val237=) rs780954414 0.00001
NM_203446.3(SYNJ1):c.727G>T (p.Val243Phe) rs754917573 0.00001
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met) rs1477089702 0.00001
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=) rs766187063 0.00001
NM_203446.3(SYNJ1):c.790-18A>G rs764219821 0.00001
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys) rs547450707 0.00001
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=) rs776217239 0.00001
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=) rs372016074 0.00001
NM_203446.3(SYNJ1):c.851+20G>C rs778826127 0.00001
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro) rs571120951 0.00001
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=) rs1326451805 0.00001
NM_203446.3(SYNJ1):c.877T>C (p.Tyr293His) rs763234456 0.00001
NM_203446.3(SYNJ1):c.885A>G (p.Lys295=) rs1219063833 0.00001
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=) rs201322530 0.00001
NM_203446.3(SYNJ1):c.948+7A>G rs777999783 0.00001
NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile) rs770096593 0.00001
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=) rs759120326 0.00001
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu) rs1438694992 0.00001
NC_000021.8:g.(?_34000069)_(34101351_?)dup
NC_000021.8:g.(?_34011198)_(34100351_?)del
NC_000021.8:g.(?_34029319)_(34031816_?)del
NC_000021.8:g.(?_34072128)_(34074377_?)del
NC_000021.9:g.(?_32727926)_(32728060_?)del
NM_003895.4(SYNJ1):c.13T>C (p.Trp5Arg) rs1255271636
NM_203446.2(SYNJ1):c.12A>T (p.Arg4Ser) rs1456208463
NM_203446.2(SYNJ1):c.17C>G (p.Ala6Gly)
NM_203446.2(SYNJ1):c.18C>T (p.Ala6=)
NM_203446.2(SYNJ1):c.20G>A (p.Cys7Tyr)
NM_203446.2(SYNJ1):c.20G>C (p.Cys7Ser)
NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter) rs1569147057
NM_203446.2(SYNJ1):c.24G>C (p.Trp8Cys)
NM_203446.2(SYNJ1):c.2T>G (p.Met1Arg)
NM_203446.2(SYNJ1):c.6G>A (p.Arg2=)
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
NM_203446.3(SYNJ1):c.*100G>T rs2039335923
NM_203446.3(SYNJ1):c.*104A>G
NM_203446.3(SYNJ1):c.*117A>G
NM_203446.3(SYNJ1):c.*134C>A
NM_203446.3(SYNJ1):c.*135C>T
NM_203446.3(SYNJ1):c.*14A>G rs1274914337
NM_203446.3(SYNJ1):c.*158A>G rs1340359289
NM_203446.3(SYNJ1):c.*162G>T
NM_203446.3(SYNJ1):c.*163C>T
NM_203446.3(SYNJ1):c.*168T>C
NM_203446.3(SYNJ1):c.*173C>T rs1341548536
NM_203446.3(SYNJ1):c.*182A>G rs1272633166
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.*186_*187insATTACT rs57257560
NM_203446.3(SYNJ1):c.*188T>C rs866258846
NM_203446.3(SYNJ1):c.*189G>A
NM_203446.3(SYNJ1):c.*18A>G
NM_203446.3(SYNJ1):c.*195T>C rs1323976540
NM_203446.3(SYNJ1):c.*196G>C
NM_203446.3(SYNJ1):c.*210A>C
NM_203446.3(SYNJ1):c.*227C>T
NM_203446.3(SYNJ1):c.*227_*244dup rs1332100317
NM_203446.3(SYNJ1):c.*230C>T
NM_203446.3(SYNJ1):c.*234G>A
NM_203446.3(SYNJ1):c.*234G>T rs777299829
NM_203446.3(SYNJ1):c.*251A>T rs2145658543
NM_203446.3(SYNJ1):c.*255G>T rs2039328082
NM_203446.3(SYNJ1):c.*257G>A rs112469776
NM_203446.3(SYNJ1):c.*276del rs1324658792
NM_203446.3(SYNJ1):c.*283G>A
NM_203446.3(SYNJ1):c.*284G>C rs2039326240
NM_203446.3(SYNJ1):c.*291C>G
NM_203446.3(SYNJ1):c.*295A>G rs2039325513
NM_203446.3(SYNJ1):c.*303T>G rs2145657976
NM_203446.3(SYNJ1):c.*309T>G rs750670440
NM_203446.3(SYNJ1):c.*316del rs1569014970
NM_203446.3(SYNJ1):c.*321T>C
NM_203446.3(SYNJ1):c.*325C>T
NM_203446.3(SYNJ1):c.*345C>T
NM_203446.3(SYNJ1):c.*347A>T
NM_203446.3(SYNJ1):c.*349T>C
NM_203446.3(SYNJ1):c.*363G>A
NM_203446.3(SYNJ1):c.*367A>G rs2145657513
NM_203446.3(SYNJ1):c.*387A>G
NM_203446.3(SYNJ1):c.*394G>A
NM_203446.3(SYNJ1):c.*396T>C rs776168774
NM_203446.3(SYNJ1):c.*4-10T>C
NM_203446.3(SYNJ1):c.*4-17C>T rs2145660723
NM_203446.3(SYNJ1):c.*4-18G>A
NM_203446.3(SYNJ1):c.*4-19T>C
NM_203446.3(SYNJ1):c.*412C>G rs1012542243
NM_203446.3(SYNJ1):c.*431G>A rs2145657162
NM_203446.3(SYNJ1):c.*442A>G rs1443131725
NM_203446.3(SYNJ1):c.*449C>A rs758233799
NM_203446.3(SYNJ1):c.*453A>G
NM_203446.3(SYNJ1):c.*459A>G rs2039318354
NM_203446.3(SYNJ1):c.*474G>A rs767728958
NM_203446.3(SYNJ1):c.*482T>C rs2145656729
NM_203446.3(SYNJ1):c.*485A>T rs764848521
NM_203446.3(SYNJ1):c.*521C>G rs749527882
NM_203446.3(SYNJ1):c.*521C>T rs749527882
NM_203446.3(SYNJ1):c.*526G>A rs1304102538
NM_203446.3(SYNJ1):c.*527G>A
NM_203446.3(SYNJ1):c.*530G>A rs779923204
NM_203446.3(SYNJ1):c.*536C>T rs1173883015
NM_203446.3(SYNJ1):c.*54T>G
NM_203446.3(SYNJ1):c.*560del rs2145656120
NM_203446.3(SYNJ1):c.*574T>A rs138122167
NM_203446.3(SYNJ1):c.*576A>G
NM_203446.3(SYNJ1):c.*576_*584del rs769088554
NM_203446.3(SYNJ1):c.*594C>G rs759611619
NM_203446.3(SYNJ1):c.*602G>T
NM_203446.3(SYNJ1):c.*604A>C
NM_203446.3(SYNJ1):c.*60A>C rs1020861731
NM_203446.3(SYNJ1):c.*60A>G rs1020861731
NM_203446.3(SYNJ1):c.*613A>C rs769954720
NM_203446.3(SYNJ1):c.*626G>A
NM_203446.3(SYNJ1):c.*628T>A rs2145655637
NM_203446.3(SYNJ1):c.*633C>T rs2145655621
NM_203446.3(SYNJ1):c.*634C>T
NM_203446.3(SYNJ1):c.*639A>G
NM_203446.3(SYNJ1):c.*641dup rs913236256
NM_203446.3(SYNJ1):c.*643A>C rs1245480307
NM_203446.3(SYNJ1):c.*661G>A
NM_203446.3(SYNJ1):c.*668A>C rs2039305821
NM_203446.3(SYNJ1):c.*669T>C
NM_203446.3(SYNJ1):c.*676T>C rs2039305600
NM_203446.3(SYNJ1):c.*677_*679del rs528030561
NM_203446.3(SYNJ1):c.*678C>G rs760299495
NM_203446.3(SYNJ1):c.*679T>A rs2145655207
NM_203446.3(SYNJ1):c.*681T>C
NM_203446.3(SYNJ1):c.*684G>A
NM_203446.3(SYNJ1):c.*690G>T
NM_203446.3(SYNJ1):c.*703C>T
NM_203446.3(SYNJ1):c.*704C>T
NM_203446.3(SYNJ1):c.*712C>T rs2039303366
NM_203446.3(SYNJ1):c.*719C>G
NM_203446.3(SYNJ1):c.*719CT[1] rs1236484854
NM_203446.3(SYNJ1):c.*731C>T
NM_203446.3(SYNJ1):c.*740G>A
NM_203446.3(SYNJ1):c.*743C>A
NM_203446.3(SYNJ1):c.*750A>G
NM_203446.3(SYNJ1):c.*753T>C rs2145654435
NM_203446.3(SYNJ1):c.*755C>T rs2039299981
NM_203446.3(SYNJ1):c.*762G>C
NM_203446.3(SYNJ1):c.*767T>G rs764949465
NM_203446.3(SYNJ1):c.*769G>A
NM_203446.3(SYNJ1):c.*770C>T rs2039298283
NM_203446.3(SYNJ1):c.*778G>A
NM_203446.3(SYNJ1):c.*783A>G
NM_203446.3(SYNJ1):c.*797T>A rs2145653931
NM_203446.3(SYNJ1):c.*7A>G
NM_203446.3(SYNJ1):c.*801A>G
NM_203446.3(SYNJ1):c.*806G>C rs772562248
NM_203446.3(SYNJ1):c.*807A>G rs2039296175
NM_203446.3(SYNJ1):c.*88G>C rs2145660026
NM_203446.3(SYNJ1):c.*89C>T rs2039336435
NM_203446.3(SYNJ1):c.*92T>C
NM_203446.3(SYNJ1):c.-22-19C>G
NM_203446.3(SYNJ1):c.-22-3C>T
NM_203446.3(SYNJ1):c.-22-4G>A rs771283717
NM_203446.3(SYNJ1):c.-22-4G>T
NM_203446.3(SYNJ1):c.-22-5C>T
NM_203446.3(SYNJ1):c.-23+11C>A
NM_203446.3(SYNJ1):c.-23+12_-23+13dup
NM_203446.3(SYNJ1):c.-23+16G>A
NM_203446.3(SYNJ1):c.-23+16G>C rs905741954
NM_203446.3(SYNJ1):c.-23+16G>T
NM_203446.3(SYNJ1):c.-23+3G>A rs779813770
NM_203446.3(SYNJ1):c.-23+8A>G
NM_203446.3(SYNJ1):c.-23G>A rs1195858283
NM_203446.3(SYNJ1):c.-25G>A rs2146446925
NM_203446.3(SYNJ1):c.-27A>G
NM_203446.3(SYNJ1):c.-29G>A rs2043550944
NM_203446.3(SYNJ1):c.-30A>G rs2043551030
NM_203446.3(SYNJ1):c.-33C>T
NM_203446.3(SYNJ1):c.-40G>A
NM_203446.3(SYNJ1):c.-43G>C rs2043552321
NM_203446.3(SYNJ1):c.-46GAG[5]
NM_203446.3(SYNJ1):c.-4G>A
NM_203446.3(SYNJ1):c.-51A>C rs1394751497
NM_203446.3(SYNJ1):c.-55C>G rs1569146878
NM_203446.3(SYNJ1):c.-56_-55delinsAT rs2043553723
NM_203446.3(SYNJ1):c.-58C>T
NM_203446.3(SYNJ1):c.-60G>T rs535611172
NM_203446.3(SYNJ1):c.-61C>A rs932881262
NM_203446.3(SYNJ1):c.-64C>A rs869206401
NM_203446.3(SYNJ1):c.-64C>G rs869206401
NM_203446.3(SYNJ1):c.-64_-53del
NM_203446.3(SYNJ1):c.-64_-53dup rs1427487040
NM_203446.3(SYNJ1):c.-67_-56del rs1035093736
NM_203446.3(SYNJ1):c.-70C>T
NM_203446.3(SYNJ1):c.-73C>A
NM_203446.3(SYNJ1):c.-75G>A rs2043555401
NM_203446.3(SYNJ1):c.-76C>A
NM_203446.3(SYNJ1):c.-77C>T
NM_203446.3(SYNJ1):c.-78C>T rs1441295192
NM_203446.3(SYNJ1):c.-79T>G
NM_203446.3(SYNJ1):c.-89G>T rs1339841336
NM_203446.3(SYNJ1):c.1005TCA[3] (p.His336_Gln337insHis) rs760622908
NM_203446.3(SYNJ1):c.100G>A (p.Glu34Lys)
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=) rs2146090232
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn) rs2041820050
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile) rs748368610
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=) rs2041819587
NM_203446.3(SYNJ1):c.1055A>C (p.Lys352Thr) rs1339451929
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs) rs1419316294
NM_203446.3(SYNJ1):c.109G>T (p.Ala37Ser)
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
NM_203446.3(SYNJ1):c.1111G>A (p.Val371Ile)
NM_203446.3(SYNJ1):c.1114C>G (p.Gln372Glu)
NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)
NM_203446.3(SYNJ1):c.1118+11T>G
NM_203446.3(SYNJ1):c.1118+14G>A
NM_203446.3(SYNJ1):c.1119-8G>A
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly) rs1163151498
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=) rs1382405019
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr) rs2041732521
NM_203446.3(SYNJ1):c.1175G>C (p.Ser392Thr)
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=) rs1179626154
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) rs746354059
NM_203446.3(SYNJ1):c.1200+19A>G
NM_203446.3(SYNJ1):c.1200+2dup rs2146072160
NM_203446.3(SYNJ1):c.1200+6A>C rs754273455
NM_203446.3(SYNJ1):c.1201-16_1201-15del rs2041629073
NM_203446.3(SYNJ1):c.1201-17C>A
NM_203446.3(SYNJ1):c.1201-8T>G
NM_203446.3(SYNJ1):c.1208C>T (p.Ala403Val) rs2146048014
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)
NM_203446.3(SYNJ1):c.1228G>A (p.Gly410Ser)
NM_203446.3(SYNJ1):c.124+12G>T
NM_203446.3(SYNJ1):c.124+19C>G
NM_203446.3(SYNJ1):c.124+19C>T
NM_203446.3(SYNJ1):c.124+20C>T rs2043472963
NM_203446.3(SYNJ1):c.1244C>T (p.Pro415Leu) rs2146047706
NM_203446.3(SYNJ1):c.1249T>C (p.Leu417=)
NM_203446.3(SYNJ1):c.125-6_125-5del rs769191151
NM_203446.3(SYNJ1):c.1259G>A (p.Arg420His) rs1060499619
NM_203446.3(SYNJ1):c.1265A>C (p.Gln422Pro) rs1474918219
NM_203446.3(SYNJ1):c.1269A>G (p.Glu423=)
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=) rs1286622528
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=) rs1286622528
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln) rs1601403500
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs) rs2146047336
NM_203446.3(SYNJ1):c.1282A>G (p.Met428Val)
NM_203446.3(SYNJ1):c.1301A>G (p.Asp434Gly)
NM_203446.3(SYNJ1):c.130G>T (p.Ala44Ser) rs771635470
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=) rs969673470
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=) rs1468223961
NM_203446.3(SYNJ1):c.1334C>T (p.Ala445Val)
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=) rs964382126
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys) rs2042422640
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu) rs1416896181
NM_203446.3(SYNJ1):c.1349C>T (p.Ala450Val)
NM_203446.3(SYNJ1):c.1350G>A (p.Ala450=)
NM_203446.3(SYNJ1):c.1353+15A>C rs372526476
NM_203446.3(SYNJ1):c.1353+15A>G
NM_203446.3(SYNJ1):c.1353+20A>G
NM_203446.3(SYNJ1):c.1353+5A>G rs376825246
NM_203446.3(SYNJ1):c.1353+7C>T
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp) rs2041512501
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu) rs2041510835
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=) rs2146025354
NM_203446.3(SYNJ1):c.1415A>G (p.Lys472Arg) rs2146025295
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
NM_203446.3(SYNJ1):c.1426A>G (p.Ile476Val)
NM_203446.3(SYNJ1):c.1448A>G (p.Asn483Ser) rs1200169091
NM_203446.3(SYNJ1):c.1449T>G (p.Asn483Lys) rs1490214505
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val) rs1261158817
NM_203446.3(SYNJ1):c.1466T>C (p.Leu489Ser) rs1238065971
NM_203446.3(SYNJ1):c.1468G>C (p.Ala490Pro) rs2146025005
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
NM_203446.3(SYNJ1):c.1483G>A (p.Ala495Thr)
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=) rs2042422021
NM_203446.3(SYNJ1):c.1510+13T>A rs75688000
NM_203446.3(SYNJ1):c.1510+14A>G
NM_203446.3(SYNJ1):c.1510+16_1510+17del rs138729271
NM_203446.3(SYNJ1):c.1511-14T>G
NM_203446.3(SYNJ1):c.1511-16_1511-14del
NM_203446.3(SYNJ1):c.1511-5C>A rs2041408513
NM_203446.3(SYNJ1):c.1533A>G (p.Ser511=)
NM_203446.3(SYNJ1):c.1534+4C>G
NM_203446.3(SYNJ1):c.1534+5A>G rs367718431
NM_203446.3(SYNJ1):c.1534+9T>C rs754756374
NM_203446.3(SYNJ1):c.1535-18G>A rs1170021366
NM_203446.3(SYNJ1):c.1550T>G (p.Leu517Arg)
NM_203446.3(SYNJ1):c.1559T>C (p.Met520Thr)
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile) rs1555898799
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=) rs150180190
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=) rs2145981618
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe) rs2042421673
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=) rs745320827
NM_203446.3(SYNJ1):c.1646G>A (p.Arg549His) rs1363168296
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=) rs1374033047
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs) rs2145981153
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
NM_203446.3(SYNJ1):c.1699A>C (p.Lys567Gln) rs2145981132
NM_203446.3(SYNJ1):c.1711A>G (p.Ile571Val) rs2145981059
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln) rs1057062132
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=) rs2041277581
NM_203446.3(SYNJ1):c.1726+10_1726+11insA rs2145980880
NM_203446.3(SYNJ1):c.1726+6C>T rs1225388121
NM_203446.3(SYNJ1):c.1727-11C>T
NM_203446.3(SYNJ1):c.1727-19C>T
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=) rs761358064
NM_203446.3(SYNJ1):c.1745C>T (p.Thr582Ile)
NM_203446.3(SYNJ1):c.1762G>A (p.Gly588Ser)
NM_203446.3(SYNJ1):c.1777G>A (p.Val593Ile)
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr) rs1601363222
NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=) rs1449222569
NM_203446.3(SYNJ1):c.1811+12A>G
NM_203446.3(SYNJ1):c.1811+8A>G rs900904083
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT rs1780660901
NM_203446.3(SYNJ1):c.1811+9G>A rs772164147
NM_203446.3(SYNJ1):c.1812-10T>A rs2040942245
NM_203446.3(SYNJ1):c.1812-16T>G rs1165805994
NM_203446.3(SYNJ1):c.1812-16del
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp) rs2040941103
NM_203446.3(SYNJ1):c.1842A>G (p.Glu614=)
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys) rs2040940591
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=) rs2145927066
NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)
NM_203446.3(SYNJ1):c.186C>T (p.Leu62=)
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met) rs2040938849
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=) rs1601348321
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=) rs2145926496
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg) rs1555896707
NM_203446.3(SYNJ1):c.1942C>T (p.Pro648Ser)
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
NM_203446.3(SYNJ1):c.1951A>G (p.Arg651Gly)
NM_203446.3(SYNJ1):c.1952+17C>T
NM_203446.3(SYNJ1):c.1952+19C>T rs2145926225
NM_203446.3(SYNJ1):c.1953-16A>C
NM_203446.3(SYNJ1):c.1953-9G>T
NM_203446.3(SYNJ1):c.1957G>A (p.Val653Ile) rs1456047190
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val) rs2040918972
NM_203446.3(SYNJ1):c.1996A>G (p.Thr666Ala) rs746423709
NM_203446.3(SYNJ1):c.2037T>C (p.His679=) rs2145923461
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=) rs780909870
NM_203446.3(SYNJ1):c.2045G>A (p.Ser682Asn) rs754395543
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe) rs2040916269
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=) rs765857459
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=) rs1411849491
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=) rs2145923177
NM_203446.3(SYNJ1):c.2081A>C (p.Gln694Pro)
NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
NM_203446.3(SYNJ1):c.2096A>G (p.Glu699Gly) rs2145923109
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
NM_203446.3(SYNJ1):c.211+11C>T
NM_203446.3(SYNJ1):c.2111T>G (p.Phe704Cys)
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu) rs761614356
NM_203446.3(SYNJ1):c.212-13T>C
NM_203446.3(SYNJ1):c.212-15C>A
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly) rs2040913777
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp) rs1438911029
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
NM_203446.3(SYNJ1):c.2143A>C (p.Met715Leu) rs540251156
NM_203446.3(SYNJ1):c.2145+14G>A
NM_203446.3(SYNJ1):c.2145+18G>A
NM_203446.3(SYNJ1):c.2145+6C>T
NM_203446.3(SYNJ1):c.2145+8C>A
NM_203446.3(SYNJ1):c.2145+8C>G
NM_203446.3(SYNJ1):c.2146-12C>G
NM_203446.3(SYNJ1):c.2169C>T (p.Asp723=)
NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)
NM_203446.3(SYNJ1):c.219T>A (p.Thr73=)
NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)
NM_203446.3(SYNJ1):c.2209C>T (p.Leu737Phe)
NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
NM_203446.3(SYNJ1):c.2213C>A (p.Pro738His)
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.225A>C (p.Leu75Phe) rs2042346717
NM_203446.3(SYNJ1):c.2260C>T (p.Leu754Phe) rs2145915558
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
NM_203446.3(SYNJ1):c.2281A>G (p.Ile761Val)
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr) rs373953139
NM_203446.3(SYNJ1):c.2296G>T (p.Ala766Ser) rs2040864240
NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)
NM_203446.3(SYNJ1):c.2304+15G>C
NM_203446.3(SYNJ1):c.2304+17_2304+20del
NM_203446.3(SYNJ1):c.2305-15A>G
NM_203446.3(SYNJ1):c.2305-17G>C
NM_203446.3(SYNJ1):c.2314G>A (p.Gly772Arg)
NM_203446.3(SYNJ1):c.231T>C (p.Tyr77=)
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=) rs367656251
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe) rs2040517909
NM_203446.3(SYNJ1):c.2383A>G (p.Thr795Ala)
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
NM_203446.3(SYNJ1):c.2386A>G (p.Ser796Gly) rs2145858327
NM_203446.3(SYNJ1):c.2390A>C (p.Glu797Ala)
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=) rs1429532362
NM_203446.3(SYNJ1):c.2405C>G (p.Pro802Arg)
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
NM_203446.3(SYNJ1):c.242T>G (p.Val81Gly)
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser) rs2042346087
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.2461+5G>T
NM_203446.3(SYNJ1):c.2462-10C>G rs775703634
NM_203446.3(SYNJ1):c.2462-19T>C rs2145854148
NM_203446.3(SYNJ1):c.2462-5T>C
NM_203446.3(SYNJ1):c.2462-6C>A rs1601309850
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=) rs1601309726
NM_203446.3(SYNJ1):c.2473G>T (p.Asp825Tyr) rs2145853930
NM_203446.3(SYNJ1):c.2475TCT[1] (p.Leu827del) rs769856515
NM_203446.3(SYNJ1):c.2494C>G (p.Gln832Glu)
NM_203446.3(SYNJ1):c.249A>T (p.Gly83=)
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=) rs2146433761
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=) rs1367273913
NM_203446.3(SYNJ1):c.2519C>G (p.Thr840Arg)
NM_203446.3(SYNJ1):c.2523G>T (p.Trp841Cys) rs2145853599
NM_203446.3(SYNJ1):c.2525C>A (p.Thr842Asn) rs370346211
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile) rs370346211
NM_203446.3(SYNJ1):c.2527C>G (p.Pro843Ala)
NM_203446.3(SYNJ1):c.2529A>C (p.Pro843=)
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr) rs1601309236
NM_203446.3(SYNJ1):c.2546A>G (p.Tyr849Cys) rs1057524877
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=) rs61756207
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys) rs2042345500
NM_203446.3(SYNJ1):c.2554G>A (p.Ala852Thr)
NM_203446.3(SYNJ1):c.2579+14C>G
NM_203446.3(SYNJ1):c.2579+14_2579+15del rs2040484641
NM_203446.3(SYNJ1):c.2580-14C>T rs2145852326
NM_203446.3(SYNJ1):c.2580-20A>C
NM_203446.3(SYNJ1):c.2580-7C>T rs2040478967
NM_203446.3(SYNJ1):c.2580-9T>C rs1601308461
NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)
NM_203446.3(SYNJ1):c.2587G>C (p.Val863Leu)
NM_203446.3(SYNJ1):c.258T>C (p.Ser86=)
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
NM_203446.3(SYNJ1):c.2596A>G (p.Ile866Val)
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=) rs2145851928
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val) rs2040476929
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
NM_203446.3(SYNJ1):c.2631G>C (p.Glu877Asp) rs375526059
NM_203446.3(SYNJ1):c.2653G>A (p.Val885Ile) rs763757097
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
NM_203446.3(SYNJ1):c.2663T>G (p.Val888Gly) rs2040474456
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg) rs1187688126
NM_203446.3(SYNJ1):c.2678A>C (p.Asp893Ala)
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=) rs939655575
NM_203446.3(SYNJ1):c.2686G>T (p.Val896Leu)
NM_203446.3(SYNJ1):c.2696C>T (p.Ser899Leu) rs2145851319
NM_203446.3(SYNJ1):c.2702A>G (p.Lys901Arg)
NM_203446.3(SYNJ1):c.2704A>G (p.Ser902Gly)
NM_203446.3(SYNJ1):c.2708C>A (p.Ser903Tyr) rs373328306
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys) rs373328306
NM_203446.3(SYNJ1):c.2725T>C (p.Phe909Leu)
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser) rs867564053
NM_203446.3(SYNJ1):c.274_276del (p.Glu92del)
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=) rs2145850907
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His) rs777815557
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=) rs1479701930
NM_203446.3(SYNJ1):c.2774T>A (p.Phe925Tyr) rs2145850802
NM_203446.3(SYNJ1):c.2777G>A (p.Gly926Asp) rs2145850761
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=) rs1350091132
NM_203446.3(SYNJ1):c.2785A>G (p.Ile929Val)
NM_203446.3(SYNJ1):c.2786T>G (p.Ile929Arg) rs755258923
NM_203446.3(SYNJ1):c.2788_2793del (p.Leu930_Ile931del) rs747135111
NM_203446.3(SYNJ1):c.2793A>G (p.Ile931Met) rs2040469812
NM_203446.3(SYNJ1):c.2795+16T>C
NM_203446.3(SYNJ1):c.2795+20A>G
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=) rs1250410568
NM_203446.3(SYNJ1):c.2849A>G (p.Asn950Ser) rs753487763
NM_203446.3(SYNJ1):c.2875-15_2875-14del
NM_203446.3(SYNJ1):c.2875-17C>G
NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
NM_203446.3(SYNJ1):c.2897T>A (p.Ile966Asn)
NM_203446.3(SYNJ1):c.2900C>T (p.Ala967Val)
NM_203446.3(SYNJ1):c.2959A>G (p.Ser987Gly)
NM_203446.3(SYNJ1):c.295A>G (p.Thr99Ala) rs1225677302
NM_203446.3(SYNJ1):c.295del (p.Thr99fs) rs2146213651
NM_203446.3(SYNJ1):c.2977T>C (p.Ser993Pro)
NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)
NM_203446.3(SYNJ1):c.2983A>C (p.Ser995Arg) rs1370000213
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=) rs2145809247
NM_203446.3(SYNJ1):c.3004G>C (p.Asp1002His) rs772671612
NM_203446.3(SYNJ1):c.3008C>G (p.Ala1003Gly)
NM_203446.3(SYNJ1):c.300C>T (p.Ser100=)
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=) rs2145809068
NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)
NM_203446.3(SYNJ1):c.301A>T (p.Thr101Ser) rs750481793
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp) rs2040223517
NM_203446.3(SYNJ1):c.3037+11_3037+12insGGAAGGTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCGGGATCCTCCCGCCTCTGCCTCCCAATGAGCTGGGATTACAGGCGAGAGCCACGTCGCCCGGCC rs2145808853
NM_203446.3(SYNJ1):c.3038-12G>A
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
NM_203446.3(SYNJ1):c.3057T>G (p.Ser1019Arg) rs767760891
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
NM_203446.3(SYNJ1):c.3088C>T (p.Leu1030Phe)
NM_203446.3(SYNJ1):c.3109G>A (p.Gly1037Ser)
NM_203446.3(SYNJ1):c.311T>C (p.Ile104Thr) rs779426150
NM_203446.3(SYNJ1):c.3122C>G (p.Ser1041Cys)
NM_203446.3(SYNJ1):c.3124C>T (p.Pro1042Ser) rs1361089216
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) rs1230133310
NM_203446.3(SYNJ1):c.313T>C (p.Ser105Pro) rs1458389261
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049_Pro1050insSer) rs2040075484
NM_203446.3(SYNJ1):c.3166A>C (p.Ile1056Leu) rs1484714011
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser) rs2040073930
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu) rs753032623
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala) rs1374696982
NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)
NM_203446.3(SYNJ1):c.3237C>G (p.Pro1079=)
NM_203446.3(SYNJ1):c.3237C>T (p.Pro1079=)
NM_203446.3(SYNJ1):c.3246G>A (p.Gln1082=)
NM_203446.3(SYNJ1):c.3247+11del
NM_203446.3(SYNJ1):c.3247+2T>G
NM_203446.3(SYNJ1):c.3248-12T>C
NM_203446.3(SYNJ1):c.3248-15C>A
NM_203446.3(SYNJ1):c.3248-16_3248-14del
NM_203446.3(SYNJ1):c.3248-19C>T rs2145777077
NM_203446.3(SYNJ1):c.3248-21_3248-19del
NM_203446.3(SYNJ1):c.3248-4T>C
NM_203446.3(SYNJ1):c.3248-6T>C
NM_203446.3(SYNJ1):c.3248-6T>G rs567223330
NM_203446.3(SYNJ1):c.3248-9G>A
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg) rs1396229702
NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)
NM_203446.3(SYNJ1):c.3257T>C (p.Ile1086Thr)
NM_203446.3(SYNJ1):c.3262G>A (p.Ala1088Thr)
NM_203446.3(SYNJ1):c.3263C>G (p.Ala1088Gly) rs1381129608
NM_203446.3(SYNJ1):c.326A>T (p.Asp109Val) rs764528223
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
NM_203446.3(SYNJ1):c.3275CGC[3] (p.Pro1093_Leu1094insPro) rs2145776402
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu) rs1326671091
NM_203446.3(SYNJ1):c.3281_3286del (p.Leu1094_Pro1095del) rs1283379982
NM_203446.3(SYNJ1):c.3284C>T (p.Pro1095Leu)
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=) rs376395608
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=) rs376395608
NM_203446.3(SYNJ1):c.3287A>G (p.Gln1096Arg) rs979154699
NM_203446.3(SYNJ1):c.3290A>G (p.Lys1097Arg) rs946267411
NM_203446.3(SYNJ1):c.3296C>T (p.Pro1099Leu) rs1447192933
NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)
NM_203446.3(SYNJ1):c.3304C>G (p.Pro1102Ala)
NM_203446.3(SYNJ1):c.3323C>T (p.Pro1108Leu)
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala) rs1189796802
NM_203446.3(SYNJ1):c.3355C>A (p.Arg1119Ser) rs1157846436
NM_203446.3(SYNJ1):c.3355C>T (p.Arg1119Cys) rs1157846436
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=) rs1601259728
NM_203446.3(SYNJ1):c.3359C>T (p.Pro1120Leu) rs773242399
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln) rs748154988
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=) rs368850131
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr) rs1485482944
NM_203446.3(SYNJ1):c.3378TCC[1] (p.Pro1129del) rs2145775202
NM_203446.3(SYNJ1):c.3383C>G (p.Pro1128Arg)
NM_203446.3(SYNJ1):c.3391+8C>T rs779010105
NM_203446.3(SYNJ1):c.3392-10G>C rs2145769480
NM_203446.3(SYNJ1):c.3392-12A>G
NM_203446.3(SYNJ1):c.3392-13T>C
NM_203446.3(SYNJ1):c.3392-4T>C
NM_203446.3(SYNJ1):c.3392-5A>T rs776721216
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=) rs1057304410
NM_203446.3(SYNJ1):c.3394G>T (p.Ala1132Ser)
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=) rs1220663745
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln) rs750372776
NM_203446.3(SYNJ1):c.3409C>T (p.Pro1137Ser) rs1461988082
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=) rs1162976890
NM_203446.3(SYNJ1):c.3430+1G>A rs2145769010
NM_203446.3(SYNJ1):c.3431-11del
NM_203446.3(SYNJ1):c.3431-6A>G rs1017765033
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs) rs2145756643
NM_203446.3(SYNJ1):c.3439G>A (p.Ala1147Thr)
NM_203446.3(SYNJ1):c.3440C>T (p.Ala1147Val)
NM_203446.3(SYNJ1):c.3448A>C (p.Ser1150Arg) rs373387769
NM_203446.3(SYNJ1):c.344G>A (p.Arg115His) rs951976946
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu) rs951976946
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=) rs2145756410
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) rs2039933328
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
NM_203446.3(SYNJ1):c.345del (p.Ile116fs) rs2146213143
NM_203446.3(SYNJ1):c.3463A>G (p.Arg1155Gly)
NM_203446.3(SYNJ1):c.3474G>A (p.Met1158Ile)
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val) rs2039931880
NM_203446.3(SYNJ1):c.3477A>C (p.Glu1159Asp)
NM_203446.3(SYNJ1):c.3478+12C>T rs2145756030
NM_203446.3(SYNJ1):c.3478+13T>C
NM_203446.3(SYNJ1):c.3478+16C>G
NM_203446.3(SYNJ1):c.3478+17A>G
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3478+9A>T
NM_203446.3(SYNJ1):c.3479-14T>C rs2039869790
NM_203446.3(SYNJ1):c.3479-18T>C
NM_203446.3(SYNJ1):c.3479-18del rs555916409
NM_203446.3(SYNJ1):c.3479-18dup
NM_203446.3(SYNJ1):c.3484A>G (p.Lys1162Glu)
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=) rs2039868331
NM_203446.3(SYNJ1):c.3490C>T (p.Pro1164Ser) rs773329386
NM_203446.3(SYNJ1):c.3497C>G (p.Thr1166Arg)
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
NM_203446.3(SYNJ1):c.3515T>C (p.Ile1172Thr)
NM_203446.3(SYNJ1):c.3517+6A>C rs2039866076
NM_203446.3(SYNJ1):c.3517+7A>G rs2145744971
NM_203446.3(SYNJ1):c.3518-18A>G
NM_203446.3(SYNJ1):c.3518-20A>G
NM_203446.3(SYNJ1):c.3518-9T>C rs2039859473
NM_203446.3(SYNJ1):c.3524G>C (p.Ser1175Thr) rs994115947
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val) rs2039857400
NM_203446.3(SYNJ1):c.3551_3552insGCA (p.Ala1184_Gly1185insGln) rs779358822
NM_203446.3(SYNJ1):c.3554G>A (p.Gly1185Asp) rs1569030684
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=) rs755614050
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu) rs1601244421
NM_203446.3(SYNJ1):c.3568G>A (p.Gly1190Arg) rs2145743118
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala) rs2042341669
NM_203446.3(SYNJ1):c.3572A>T (p.Tyr1191Phe) rs923063240
NM_203446.3(SYNJ1):c.3575G>T (p.Ser1192Ile) rs780730508
NM_203446.3(SYNJ1):c.3578C>G (p.Thr1193Arg) rs1308363849
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=) rs1404447301
NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln) rs61752550
NM_203446.3(SYNJ1):c.3587C>G (p.Pro1196Arg) rs61752550
NM_203446.3(SYNJ1):c.3588+15G>C
NM_203446.3(SYNJ1):c.3588+7A>G rs990106590
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=) rs1160685381
NM_203446.3(SYNJ1):c.3589-16T>C rs369384628
NM_203446.3(SYNJ1):c.3589-16T>G rs369384628
NM_203446.3(SYNJ1):c.3589-17dup
NM_203446.3(SYNJ1):c.3589-1G>A
NM_203446.3(SYNJ1):c.3589-3T>A
NM_203446.3(SYNJ1):c.3589-4G>A
NM_203446.3(SYNJ1):c.3589-8A>T rs2145726735
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg) rs2043479501
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly) rs114994257
NM_203446.3(SYNJ1):c.3607G>A (p.Gly1203Arg) rs2145726317
NM_203446.3(SYNJ1):c.3610G>A (p.Val1204Ile) rs1569027714
NM_203446.3(SYNJ1):c.3617G>A (p.Ser1206Asn)
NM_203446.3(SYNJ1):c.3626A>G (p.Gln1209Arg)
NM_203446.3(SYNJ1):c.3632A>G (p.His1211Arg)
NM_203446.3(SYNJ1):c.3637C>G (p.Arg1213Gly) rs779662077
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp) rs779662077
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
NM_203446.3(SYNJ1):c.3665A>G (p.Glu1222Gly) rs2145725689
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys) rs2039744699
NM_203446.3(SYNJ1):c.3675C>G (p.Ser1225Arg) rs2145725639
NM_203446.3(SYNJ1):c.3688A>C (p.Thr1230Pro) rs2039743427
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=) rs1446522492
NM_203446.3(SYNJ1):c.3697+15G>A
NM_203446.3(SYNJ1):c.3697+8C>T rs2145725329
NM_203446.3(SYNJ1):c.3698-12C>T
NM_203446.3(SYNJ1):c.3698-13A>G
NM_203446.3(SYNJ1):c.3698-15C>T
NM_203446.3(SYNJ1):c.3698-19A>G
NM_203446.3(SYNJ1):c.3698-3del
NM_203446.3(SYNJ1):c.3698G>A (p.Gly1233Asp)
NM_203446.3(SYNJ1):c.3709C>T (p.Leu1237Phe)
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=) rs2145720898
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met) rs2230766
NM_203446.3(SYNJ1):c.3733G>A (p.Ala1245Thr)
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=) rs138579227
NM_203446.3(SYNJ1):c.3747G>C (p.Pro1249=)
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=) rs138579227
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu) rs1433204750
NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)
NM_203446.3(SYNJ1):c.3770C>G (p.Ala1257Gly) rs780163347
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe) rs758900160
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=) rs1601231568
NM_203446.3(SYNJ1):c.3788C>G (p.Pro1263Arg) rs757637208
NM_203446.3(SYNJ1):c.3796C>T (p.Pro1266Ser) rs2039706224
NM_203446.3(SYNJ1):c.3803C>T (p.Ala1268Val) rs1601231363
NM_203446.3(SYNJ1):c.3806C>G (p.Ala1269Gly) rs2039705571
NM_203446.3(SYNJ1):c.3823G>A (p.Gly1275Ser) rs1601231173
NM_203446.3(SYNJ1):c.3824G>A (p.Gly1275Asp)
NM_203446.3(SYNJ1):c.3827C>G (p.Pro1276Arg) rs375902516
NM_203446.3(SYNJ1):c.3829dup (p.Gln1277fs) rs1555888341
NM_203446.3(SYNJ1):c.3832C>A (p.Pro1278Thr) rs371076175
NM_203446.3(SYNJ1):c.3837T>A (p.Asn1279Lys) rs1555888329
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
NM_203446.3(SYNJ1):c.3866G>A (p.Arg1289Gln)
NM_203446.3(SYNJ1):c.3866G>C (p.Arg1289Pro) rs780038881
NM_203446.3(SYNJ1):c.3873G>T (p.Arg1291Ser) rs141669628
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=) rs1601230798
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=) rs2042340576
NM_203446.3(SYNJ1):c.3880C>T (p.His1294Tyr)
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln) rs1569025711
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=) rs372695378
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=) rs372695378
NM_203446.3(SYNJ1):c.3915+18C>A
NM_203446.3(SYNJ1):c.3915+20C>G
NM_203446.3(SYNJ1):c.3915+20C>T
NM_203446.3(SYNJ1):c.3915+5G>A rs61750220
NM_203446.3(SYNJ1):c.3915+7C>G rs2145719045
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
NM_203446.3(SYNJ1):c.406G>A (p.Gly136Ser) rs2146212752
NM_203446.3(SYNJ1):c.425G>A (p.Ser142Asn) rs2146212631
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=) rs2146212579
NM_203446.3(SYNJ1):c.431A>C (p.Asn144Thr) rs1333594220
NM_203446.3(SYNJ1):c.434C>G (p.Ala145Gly) rs111886678
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=) rs151248057
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn) rs2042337641
NM_203446.3(SYNJ1):c.447G>T (p.Met149Ile) rs2146212303
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
NM_203446.3(SYNJ1):c.455A>G (p.Gln152Arg) rs766091867
NM_203446.3(SYNJ1):c.463G>A (p.Asp155Asn) rs2146212159
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser) rs1487423508
NM_203446.3(SYNJ1):c.479+13T>A rs1684291610
NM_203446.3(SYNJ1):c.479+17C>T
NM_203446.3(SYNJ1):c.480-18T>A
NM_203446.3(SYNJ1):c.480-5A>G rs1001176616
NM_203446.3(SYNJ1):c.494A>G (p.His165Arg) rs2042161467
NM_203446.3(SYNJ1):c.4G>A (p.Ala2Thr) rs2043481026
NM_203446.3(SYNJ1):c.515G>A (p.Gly172Asp)
NM_203446.3(SYNJ1):c.516C>T (p.Gly172=)
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu) rs1277503442
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=) rs2146174688
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr) rs2043478146
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile) rs760573856
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile) rs2146174430
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val) rs2042159051
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
NM_203446.3(SYNJ1):c.58C>T (p.Leu20Phe)
NM_203446.3(SYNJ1):c.594G>C (p.Gln198His)
NM_203446.3(SYNJ1):c.596C>T (p.Ala199Val)
NM_203446.3(SYNJ1):c.601G>C (p.Ala201Pro) rs371958110
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
NM_203446.3(SYNJ1):c.622A>G (p.Ser208Gly) rs1601449471
NM_203446.3(SYNJ1):c.63A>G (p.Ile21Met) rs759604797
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
NM_203446.3(SYNJ1):c.652G>A (p.Val218Ile) rs2146173743
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
NM_203446.3(SYNJ1):c.655C>T (p.Arg219Trp)
NM_203446.3(SYNJ1):c.686A>G (p.Asn229Ser)
NM_203446.3(SYNJ1):c.690T>G (p.Phe230Leu) rs1382349474
NM_203446.3(SYNJ1):c.691G>T (p.Val231Leu) rs2042154653
NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)
NM_203446.3(SYNJ1):c.705+8T>C
NM_203446.3(SYNJ1):c.705+9A>G rs2042154034
NM_203446.3(SYNJ1):c.706-13T>A
NM_203446.3(SYNJ1):c.706-15T>C
NM_203446.3(SYNJ1):c.706-16del
NM_203446.3(SYNJ1):c.706-7del rs202044634
NM_203446.3(SYNJ1):c.706-7dup rs202044634
NM_203446.3(SYNJ1):c.721G>A (p.Asp241Asn)
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter) rs1160469053
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln) rs762909719
NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)
NM_203446.3(SYNJ1):c.759T>G (p.Val253=) rs111290161
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=) rs2146165828
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu) rs1456955061
NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)
NM_203446.3(SYNJ1):c.786G>T (p.Leu262Phe) rs2146165594
NM_203446.3(SYNJ1):c.789+10T>C rs1601446146
NM_203446.3(SYNJ1):c.789+1G>A rs2042124608
NM_203446.3(SYNJ1):c.789+20T>C
NM_203446.3(SYNJ1):c.789+4T>A rs2146165562
NM_203446.3(SYNJ1):c.789+8_789+11del rs751922511
NM_203446.3(SYNJ1):c.790-14T>G
NM_203446.3(SYNJ1):c.790-6T>G rs2041904445
NM_203446.3(SYNJ1):c.7T>C (p.Phe3Leu)
NM_203446.3(SYNJ1):c.802C>T (p.Arg268Cys) rs2146108619
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
NM_203446.3(SYNJ1):c.809G>A (p.Arg270His) rs532075408
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu) rs532075408
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro) rs2041902084
NM_203446.3(SYNJ1):c.842C>G (p.Ala281Gly) rs1046699971
NM_203446.3(SYNJ1):c.846T>G (p.Phe282Leu) rs1461469693
NM_203446.3(SYNJ1):c.851+10T>C rs745840084
NM_203446.3(SYNJ1):c.851+15A>G
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) rs565013600
NM_203446.3(SYNJ1):c.852-10_852-7del rs764989740
NM_203446.3(SYNJ1):c.852-16T>C
NM_203446.3(SYNJ1):c.852-20T>C rs1436283724
NM_203446.3(SYNJ1):c.864A>G (p.Thr288=)
NM_203446.3(SYNJ1):c.868A>G (p.Lys290Glu) rs2146099258
NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln) rs554456240
NM_203446.3(SYNJ1):c.887A>G (p.Gln296Arg) rs2041858912
NM_203446.3(SYNJ1):c.901T>A (p.Leu301Met)
NM_203446.3(SYNJ1):c.914A>C (p.Lys305Thr) rs2146098903
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
NM_203446.3(SYNJ1):c.924A>G (p.Glu308=) rs2041857984
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His) rs1569093889
NM_203446.3(SYNJ1):c.949-15C>T rs371013716
NM_203446.3(SYNJ1):c.949-31_949-2del rs1281313151
NM_203446.3(SYNJ1):c.949-7C>T
NM_203446.3(SYNJ1):c.949-9del rs776238595
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn) rs2041822657
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=) rs1601418926
NM_203446.3(SYNJ1):c.976G>T (p.Ala326Ser) rs2146090569
NM_203446.3(SYNJ1):c.983T>C (p.Ile328Thr)
NM_203446.3(SYNJ1):c.99C>G (p.Phe33Leu) rs746651449

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