ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 627
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp) rs142964720 0.00051
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr) rs114053718 0.00021
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro) rs77164494 0.00019
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly) rs147931121 0.00014
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile) rs145712835 0.00013
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
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.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.2254G>T (p.Asp752Tyr) rs145978776 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.3908A>G (p.Gln1303Arg) rs546986773 0.00009
NM_203446.3(SYNJ1):c.2874+6G>A rs368204504 0.00008
NM_203446.3(SYNJ1):c.*257G>T rs112469776 0.00006
NM_203446.3(SYNJ1):c.*709C>T rs912535820 0.00006
NM_203446.3(SYNJ1):c.-42A>G rs988950141 0.00006
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn) rs147544792 0.00006
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His) rs756697570 0.00006
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln) rs371117480 0.00006
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile) rs527362526 0.00006
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu) rs61752550 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.2250T>A (p.Asn750Lys) rs570501803 0.00005
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp) rs149147152 0.00005
NM_203446.3(SYNJ1):c.3370C>G (p.Gln1124Glu) rs768503724 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.1744A>G (p.Thr582Ala) rs370817503 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.2814G>A (p.Met938Ile) rs546854566 0.00004
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg) rs755535504 0.00004
NM_203446.3(SYNJ1):c.3391+6A>C rs745914222 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.842C>T (p.Ala281Val) rs1046699971 0.00004
NM_203446.3(SYNJ1):c.*598C>A rs770865984 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.*733G>A rs758953009 0.00003
NM_203446.3(SYNJ1):c.-83A>G rs775805673 0.00003
NM_203446.3(SYNJ1):c.1402T>G (p.Phe468Val) rs376762817 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.2171A>G (p.Tyr724Cys) rs201485861 0.00003
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met) rs560413403 0.00003
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala) rs779943757 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.3209G>A (p.Arg1070Gln) rs141107054 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.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.*110C>T rs959757570 0.00002
NM_203446.3(SYNJ1):c.*119C>T rs547772465 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.*737C>G rs746226206 0.00002
NM_203446.3(SYNJ1):c.-59G>A rs771338654 0.00002
NM_203446.3(SYNJ1):c.-68G>A rs746182035 0.00002
NM_203446.3(SYNJ1):c.1100A>G (p.Asn367Ser) rs562660511 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.1867A>G (p.Asn623Asp) rs377719553 0.00002
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp) rs372488661 0.00002
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val) rs761614356 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.2399G>A (p.Arg800His) rs748767686 0.00002
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr) rs753305423 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.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.3652A>G (p.Arg1218Gly) rs139146760 0.00002
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met) rs752805765 0.00002
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro) rs548516848 0.00002
NM_203446.3(SYNJ1):c.409A>G (p.Ile137Val) rs780191673 0.00002
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser) rs371958110 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.*109T>C rs766434591 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.*212C>T rs754791304 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.*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.*469T>C rs753264526 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.*689C>T rs766938091 0.00001
NM_203446.3(SYNJ1):c.*763A>G rs778073626 0.00001
NM_203446.3(SYNJ1):c.*806G>A rs772562248 0.00001
NM_203446.3(SYNJ1):c.-23G>C rs1195858283 0.00001
NM_203446.3(SYNJ1):c.-56G>T rs1486511197 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.1201-20T>G rs1421070500 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.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.1601G>A (p.Arg534Gln) rs750585610 0.00001
NM_203446.3(SYNJ1):c.1645C>T (p.Arg549Cys) rs2041280422 0.00001
NM_203446.3(SYNJ1):c.1697C>T (p.Pro566Leu) rs141001350 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.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.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.2165A>C (p.His722Pro) rs867547488 0.00001
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln) rs1404522896 0.00001
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val) rs762562029 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.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.2818G>T (p.Val940Phe) rs890538025 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.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.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.3304C>T (p.Pro1102Ser) rs1368672974 0.00001
NM_203446.3(SYNJ1):c.3318G>C (p.Lys1106Asn) rs1172188985 0.00001
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser) rs1274970038 0.00001
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu) rs569046864 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.3584G>C (p.Arg1195Thr) rs1336877948 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.3604G>T (p.Ala1202Ser) rs543639398 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.3766C>T (p.Pro1256Ser) rs138334718 0.00001
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg) rs767170641 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.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.727G>T (p.Val243Phe) rs754917573 0.00001
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met) rs1477089702 0.00001
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys) rs547450707 0.00001
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro) rs571120951 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.96G>A (p.Met32Ile) rs770096593 0.00001
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu) rs1438694992 0.00001
NC_000021.8:g.(?_34000069)_(34101351_?)dup
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.20G>A (p.Cys7Tyr)
NM_203446.2(SYNJ1):c.20G>C (p.Cys7Ser)
NM_203446.2(SYNJ1):c.24G>C (p.Trp8Cys)
NM_203446.2(SYNJ1):c.2T>G (p.Met1Arg)
NM_203446.3(SYNJ1):c.*100G>T rs2039335923
NM_203446.3(SYNJ1):c.*104A>G
NM_203446.3(SYNJ1):c.*134C>A
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.*173C>T rs1341548536
NM_203446.3(SYNJ1):c.*182A>G rs1272633166
NM_203446.3(SYNJ1):c.*186_*187insATTACT rs57257560
NM_203446.3(SYNJ1):c.*188T>C rs866258846
NM_203446.3(SYNJ1):c.*196G>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.*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.*295A>G rs2039325513
NM_203446.3(SYNJ1):c.*309T>G rs750670440
NM_203446.3(SYNJ1):c.*316del rs1569014970
NM_203446.3(SYNJ1):c.*325C>T
NM_203446.3(SYNJ1):c.*347A>T
NM_203446.3(SYNJ1):c.*349T>C
NM_203446.3(SYNJ1):c.*367A>G rs2145657513
NM_203446.3(SYNJ1):c.*394G>A
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.*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.*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.*613A>C rs769954720
NM_203446.3(SYNJ1):c.*626G>A
NM_203446.3(SYNJ1):c.*628T>A rs2145655637
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.*676T>C rs2039305600
NM_203446.3(SYNJ1):c.*678C>G rs760299495
NM_203446.3(SYNJ1):c.*679T>A rs2145655207
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.*755C>T rs2039299981
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.*797T>A rs2145653931
NM_203446.3(SYNJ1):c.*7A>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.-22-3C>T
NM_203446.3(SYNJ1):c.-23+3G>A rs779813770
NM_203446.3(SYNJ1):c.-23G>A rs1195858283
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.-43G>C rs2043552321
NM_203446.3(SYNJ1):c.-46GAG[5]
NM_203446.3(SYNJ1):c.-55C>G rs1569146878
NM_203446.3(SYNJ1):c.-56_-55delinsAT rs2043553723
NM_203446.3(SYNJ1):c.-60G>T rs535611172
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.-75G>A rs2043555401
NM_203446.3(SYNJ1):c.-77C>T
NM_203446.3(SYNJ1):c.-78C>T rs1441295192
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.1042C>A (p.His348Asn) rs2041820050
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile) rs748368610
NM_203446.3(SYNJ1):c.1055A>C (p.Lys352Thr) rs1339451929
NM_203446.3(SYNJ1):c.109G>T (p.Ala37Ser)
NM_203446.3(SYNJ1):c.1111G>A (p.Val371Ile)
NM_203446.3(SYNJ1):c.1114C>G (p.Gln372Glu)
NM_203446.3(SYNJ1):c.1119-8G>A
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly) rs1163151498
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr) rs2041732521
NM_203446.3(SYNJ1):c.1175G>C (p.Ser392Thr)
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) rs746354059
NM_203446.3(SYNJ1):c.1200+2dup rs2146072160
NM_203446.3(SYNJ1):c.1200+6A>C rs754273455
NM_203446.3(SYNJ1):c.1208C>T (p.Ala403Val) rs2146048014
NM_203446.3(SYNJ1):c.1228G>A (p.Gly410Ser)
NM_203446.3(SYNJ1):c.1244C>T (p.Pro415Leu) rs2146047706
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.1277G>A (p.Arg426Gln) rs1601403500
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.1334C>T (p.Ala445Val)
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.1353+5A>G rs376825246
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp) rs2041512501
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu) rs2041510835
NM_203446.3(SYNJ1):c.1415A>G (p.Lys472Arg) rs2146025295
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.1483G>A (p.Ala495Thr)
NM_203446.3(SYNJ1):c.1511-14T>G
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.1550T>G (p.Leu517Arg)
NM_203446.3(SYNJ1):c.1559T>C (p.Met520Thr)
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile) rs1555898799
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe) rs2042421673
NM_203446.3(SYNJ1):c.1646G>A (p.Arg549His) rs1363168296
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.1726+6C>T rs1225388121
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.1835C>A (p.Ala612Asp) rs2040941103
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys) rs2040940591
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met) rs2040938849
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg) rs1555896707
NM_203446.3(SYNJ1):c.1942C>T (p.Pro648Ser)
NM_203446.3(SYNJ1):c.1951A>G (p.Arg651Gly)
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.2045G>A (p.Ser682Asn) rs754395543
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe) rs2040916269
NM_203446.3(SYNJ1):c.2081A>C (p.Gln694Pro)
NM_203446.3(SYNJ1):c.2096A>G (p.Glu699Gly) rs2145923109
NM_203446.3(SYNJ1):c.2111T>G (p.Phe704Cys)
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu) rs761614356
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly) rs2040913777
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp) rs1438911029
NM_203446.3(SYNJ1):c.2143A>C (p.Met715Leu) rs540251156
NM_203446.3(SYNJ1):c.2145+6C>T
NM_203446.3(SYNJ1):c.2209C>T (p.Leu737Phe)
NM_203446.3(SYNJ1):c.2213C>A (p.Pro738His)
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.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.2314G>A (p.Gly772Arg)
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe) rs2040517909
NM_203446.3(SYNJ1):c.2383A>G (p.Thr795Ala)
NM_203446.3(SYNJ1):c.2386A>G (p.Ser796Gly) rs2145858327
NM_203446.3(SYNJ1):c.2390A>C (p.Glu797Ala)
NM_203446.3(SYNJ1):c.2405C>G (p.Pro802Arg)
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+5G>T
NM_203446.3(SYNJ1):c.2462-10C>G rs775703634
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.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.2546A>G (p.Tyr849Cys) rs1057524877
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys) rs2042345500
NM_203446.3(SYNJ1):c.2554G>A (p.Ala852Thr)
NM_203446.3(SYNJ1):c.2587G>C (p.Val863Leu)
NM_203446.3(SYNJ1):c.2596A>G (p.Ile866Val)
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val) rs2040476929
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.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.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.2744T>G (p.Ile915Ser) rs867564053
NM_203446.3(SYNJ1):c.274_276del (p.Glu92del)
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His) rs777815557
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.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.2849A>G (p.Asn950Ser) rs753487763
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.2977T>C (p.Ser993Pro)
NM_203446.3(SYNJ1):c.2983A>C (p.Ser995Arg) rs1370000213
NM_203446.3(SYNJ1):c.3004G>C (p.Asp1002His) rs772671612
NM_203446.3(SYNJ1):c.3008C>G (p.Ala1003Gly)
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.3057T>G (p.Ser1019Arg) rs767760891
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.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.3202C>G (p.Pro1068Ala) rs1374696982
NM_203446.3(SYNJ1):c.3246G>A (p.Gln1082=)
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg) rs1396229702
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.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.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.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.3359C>T (p.Pro1120Leu) rs773242399
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln) rs748154988
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.3394G>T (p.Ala1132Ser)
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.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.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.3484A>G (p.Lys1162Glu)
NM_203446.3(SYNJ1):c.3490C>T (p.Pro1164Ser) rs773329386
NM_203446.3(SYNJ1):c.3497C>G (p.Thr1166Arg)
NM_203446.3(SYNJ1):c.3515T>C (p.Ile1172Thr)
NM_203446.3(SYNJ1):c.3517+6A>C rs2039866076
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.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.3587C>A (p.Pro1196Gln) rs61752550
NM_203446.3(SYNJ1):c.3587C>G (p.Pro1196Arg) rs61752550
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=) rs1160685381
NM_203446.3(SYNJ1):c.3589-3T>A
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.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.3698G>A (p.Gly1233Asp)
NM_203446.3(SYNJ1):c.3709C>T (p.Leu1237Phe)
NM_203446.3(SYNJ1):c.3733G>A (p.Ala1245Thr)
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu) rs1433204750
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.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.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.3880C>T (p.His1294Tyr)
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln) rs1569025711
NM_203446.3(SYNJ1):c.3915+5G>A rs61750220
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.431A>C (p.Asn144Thr) rs1333594220
NM_203446.3(SYNJ1):c.434C>G (p.Ala145Gly) rs111886678
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.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.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.528T>A (p.Asp176Glu) rs1277503442
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr) rs2043478146
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile) rs760573856
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile) rs2146174430
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val) rs2042159051
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.622A>G (p.Ser208Gly) rs1601449471
NM_203446.3(SYNJ1):c.63A>G (p.Ile21Met) rs759604797
NM_203446.3(SYNJ1):c.652G>A (p.Val218Ile) rs2146173743
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.721G>A (p.Asp241Asn)
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln) rs762909719
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu) rs1456955061
NM_203446.3(SYNJ1):c.786G>T (p.Leu262Phe) rs2146165594
NM_203446.3(SYNJ1):c.789+4T>A rs2146165562
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.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.868A>G (p.Lys290Glu) rs2146099258
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.924A>G (p.Glu308=) rs2041857984
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His) rs1569093889
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn) rs2041822657
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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