ClinVar Miner

List of variants reported as uncertain significance for atypical juvenile parkinsonism

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 726
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp) rs142964720 0.00051
NM_001256864.2(DNAJC6):c.397A>T (p.Met133Leu) rs61757223 0.00046
NM_001256864.2(DNAJC6):c.829G>A (p.Ala277Thr) rs146050826 0.00045
NM_001256864.2(DNAJC6):c.1113G>A (p.Lys371=) rs144924736 0.00022
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_001256864.2(DNAJC6):c.1070T>C (p.Met357Thr) rs201840876 0.00015
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly) rs147931121 0.00014
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) rs144048853 0.00013
NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val) rs200712827 0.00012
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu) rs147025577 0.00012
NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val) rs375368522 0.00011
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_001256864.2(DNAJC6):c.992T>C (p.Met331Thr) rs760136045 0.00009
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly) rs148901211 0.00009
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile) rs145712835 0.00009
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg) rs546986773 0.00009
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr) rs774367309 0.00009
NM_203446.3(SYNJ1):c.2874+6G>A rs368204504 0.00008
NM_001256864.2(DNAJC6):c.1715C>T (p.Ala572Val) rs141779215 0.00007
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_001256864.2(DNAJC6):c.1607A>G (p.Lys536Arg) rs376992397 0.00006
NM_001256864.2(DNAJC6):c.674G>A (p.Arg225Gln) rs772437036 0.00006
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.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.3691T>C (p.Ser1231Pro) rs767695759 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_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys) rs141833490 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.3370C>G (p.Gln1124Glu) rs768503724 0.00005
NC_000021.9:g.32728034T>G rs1037328706 0.00004
NM_001256864.2(DNAJC6):c.119G>T (p.Arg40Ile) rs754115488 0.00004
NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys) rs377366345 0.00004
NM_001256864.2(DNAJC6):c.2212G>A (p.Asp738Asn) rs140156759 0.00004
NM_001256864.2(DNAJC6):c.2443G>T (p.Ala815Ser) rs369274494 0.00004
NM_001256864.2(DNAJC6):c.2839G>A (p.Ala947Thr) rs755391548 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.1508G>A (p.Arg503His) rs756697570 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.2792T>C (p.Ile931Thr) rs932390799 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.3634G>A (p.Ala1212Thr) rs769125182 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_001256864.2(DNAJC6):c.677C>T (p.Ala226Val) rs776225529 0.00003
NM_001256864.2(DNAJC6):c.926G>A (p.Arg309His) rs757458350 0.00003
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.3209G>A (p.Arg1070Gln) rs141107054 0.00003
NM_203446.3(SYNJ1):c.3301C>G (p.Gln1101Glu) rs763783154 0.00003
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser) rs760863245 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_001256864.2(DNAJC6):c.1709C>T (p.Pro570Leu) rs751850074 0.00002
NM_001256864.2(DNAJC6):c.175A>G (p.Ser59Gly) rs1296532855 0.00002
NM_001256864.2(DNAJC6):c.1990A>G (p.Ser664Gly) rs986073706 0.00002
NM_001256864.2(DNAJC6):c.2044A>G (p.Ser682Gly) rs145175543 0.00002
NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly) rs747034717 0.00002
NM_001256864.2(DNAJC6):c.344+4C>T rs561389842 0.00002
NM_001256864.2(DNAJC6):c.518A>G (p.Tyr173Cys) rs1428381539 0.00002
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.3320G>A (p.Arg1107Gln) rs917502531 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_001256864.2(DNAJC6):c.101G>C (p.Gly34Ala) rs956622990 0.00001
NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly) rs547312338 0.00001
NM_001256864.2(DNAJC6):c.1646C>T (p.Pro549Leu) rs1230286867 0.00001
NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu) rs747115530 0.00001
NM_001256864.2(DNAJC6):c.1716G>A (p.Ala572=) rs201766287 0.00001
NM_001256864.2(DNAJC6):c.1877C>T (p.Ala626Val) rs761922985 0.00001
NM_001256864.2(DNAJC6):c.2003T>A (p.Leu668His) rs1363537326 0.00001
NM_001256864.2(DNAJC6):c.2020C>T (p.Pro674Ser) rs749594846 0.00001
NM_001256864.2(DNAJC6):c.2086T>C (p.Trp696Arg) rs1462099424 0.00001
NM_001256864.2(DNAJC6):c.2107+3A>G rs371583880 0.00001
NM_001256864.2(DNAJC6):c.2228-3T>C rs753885398 0.00001
NM_001256864.2(DNAJC6):c.224A>G (p.Tyr75Cys) rs1394529150 0.00001
NM_001256864.2(DNAJC6):c.2290C>T (p.Leu764Phe) rs917235831 0.00001
NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His) rs201984806 0.00001
NM_001256864.2(DNAJC6):c.2762A>T (p.Gln921Leu) rs1203943853 0.00001
NM_001256864.2(DNAJC6):c.2873G>T (p.Trp958Leu) rs1380186979 0.00001
NM_001256864.2(DNAJC6):c.521G>A (p.Arg174Gln) rs895749847 0.00001
NM_001256864.2(DNAJC6):c.833A>G (p.Asp278Gly) rs368290134 0.00001
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.3581C>G (p.Ala1194Gly) rs779766895 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.3601C>T (p.Arg1201Cys) rs114994257 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.630A>T (p.Glu210Asp) rs1377390036 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_000001.10:g.(?_65775429)_(65831899_?)dup
NC_000001.10:g.(?_65849856)_(65855330_?)dup
NC_000001.10:g.(?_65853999)_(65878708_?)dup
NC_000021.8:g.(?_32439271)_(37133458_?)dup
NC_000021.8:g.(?_33974153)_(34074377_?)dup
NC_000021.8:g.(?_33974153)_(34100371_?)dup
NC_000021.8:g.(?_34000069)_(34101351_?)dup
NC_000021.9:g.(?_32601843)_(32634904_?)dup
NC_000021.9:g.32728017C>G
NC_000021.9:g.32728021C>G
NC_000021.9:g.32728021C>T
NC_000021.9:g.32728024G>C
NC_000021.9:g.32728029T>A rs1456208463
NC_000021.9:g.32728039A>C
NM_001256864.2(DNAJC6):c.1012G>C (p.Asp338His)
NM_001256864.2(DNAJC6):c.128C>T (p.Ala43Val)
NM_001256864.2(DNAJC6):c.1348T>G (p.Ser450Ala) rs1645902989
NM_001256864.2(DNAJC6):c.1388-18G>A
NM_001256864.2(DNAJC6):c.1446C>A (p.Phe482Leu) rs1645906223
NM_001256864.2(DNAJC6):c.149C>T (p.Pro50Leu)
NM_001256864.2(DNAJC6):c.1504C>T (p.His502Tyr)
NM_001256864.2(DNAJC6):c.164C>A (p.Pro55Gln) rs916872480
NM_001256864.2(DNAJC6):c.1651C>A (p.Pro551Thr) rs377495314
NM_001256864.2(DNAJC6):c.1666C>T (p.Leu556Phe) rs1262741318
NM_001256864.2(DNAJC6):c.1741C>G (p.Leu581Val)
NM_001256864.2(DNAJC6):c.1794G>C (p.Gln598His) rs2101614376
NM_001256864.2(DNAJC6):c.1817A>C (p.His606Pro) rs199937139
NM_001256864.2(DNAJC6):c.1819C>A (p.Pro607Thr)
NM_001256864.2(DNAJC6):c.1831G>A (p.Ala611Thr) rs1015326337
NM_001256864.2(DNAJC6):c.1841A>G (p.Gln614Arg)
NM_001256864.2(DNAJC6):c.1856G>A (p.Arg619His) rs139509177
NM_001256864.2(DNAJC6):c.1894G>C (p.Val632Leu)
NM_001256864.2(DNAJC6):c.1982G>A (p.Ser661Asn) rs2101618114
NM_001256864.2(DNAJC6):c.2038+3A>G rs961974767
NM_001256864.2(DNAJC6):c.2106A>G (p.Pro702=)
NM_001256864.2(DNAJC6):c.2107+8_2107+10del rs1199919797
NM_001256864.2(DNAJC6):c.2119A>G (p.Met707Val)
NM_001256864.2(DNAJC6):c.2255C>T (p.Thr752Ile) rs2101635055
NM_001256864.2(DNAJC6):c.2309C>T (p.Ala770Val)
NM_001256864.2(DNAJC6):c.2351C>T (p.Ala784Val)
NM_001256864.2(DNAJC6):c.2468G>C (p.Arg823Pro) rs201984806
NM_001256864.2(DNAJC6):c.2476G>A (p.Gly826Arg)
NM_001256864.2(DNAJC6):c.2506G>T (p.Ala836Ser)
NM_001256864.2(DNAJC6):c.2553C>G (p.His851Gln)
NM_001256864.2(DNAJC6):c.2594A>G (p.Lys865Arg)
NM_001256864.2(DNAJC6):c.2689A>T (p.Met897Leu)
NM_001256864.2(DNAJC6):c.2715G>C (p.Glu905Asp) rs201708707
NM_001256864.2(DNAJC6):c.2846T>C (p.Met949Thr)
NM_001256864.2(DNAJC6):c.32C>T (p.Thr11Ile) rs2101357416
NM_001256864.2(DNAJC6):c.344+6C>T
NM_001256864.2(DNAJC6):c.542G>A (p.Arg181Gln)
NM_001256864.2(DNAJC6):c.700G>A (p.Ala234Thr)
NM_001256864.2(DNAJC6):c.79G>T (p.Asp27Tyr)
NM_001256864.2(DNAJC6):c.809G>A (p.Gly270Asp) rs1645865223
NM_001256864.2(DNAJC6):c.839C>T (p.Pro280Leu) rs774319050
NM_001256864.2(DNAJC6):c.83T>C (p.Leu28Ser)
NM_001256864.2(DNAJC6):c.973T>C (p.Cys325Arg) rs1436860964
NM_003895.4(SYNJ1):c.13T>C (p.Trp5Arg) rs1255271636
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.-23+3G>T
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.319C>T (p.Arg107Ter)
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.577T>C (p.Tyr193His) rs2042158818
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.