ClinVar Miner

List of variants reported as likely benign for atypical juvenile parkinsonism by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 606
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_001256864.2(DNAJC6):c.194-5G>T rs753576283 0.00359
NM_203446.3(SYNJ1):c.*728C>T rs2230767 0.00284
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) rs114942253 0.00255
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser) rs145329294 0.00237
NM_001256864.2(DNAJC6):c.2254A>T (p.Thr752Ser) rs113143702 0.00201
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
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_001256864.2(DNAJC6):c.194-16T>G rs772643958 0.00119
NM_001256864.2(DNAJC6):c.2159C>T (p.Ser720Leu) rs143504255 0.00116
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.*552G>A rs146425050 0.00064
NM_203446.3(SYNJ1):c.*443G>A rs532034867 0.00037
NM_203446.3(SYNJ1):c.*312C>T rs149199429 0.00036
NM_001256864.2(DNAJC6):c.198C>T (p.Ala66=) rs374727491 0.00030
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.2875-5G>A rs376206541 0.00021
NM_203446.3(SYNJ1):c.1726+18T>C rs780148215 0.00019
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.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_001256864.2(DNAJC6):c.1182A>G (p.Leu394=) rs148145327 0.00015
NM_001256864.2(DNAJC6):c.1577A>G (p.Asn526Ser) rs191459935 0.00015
NM_203446.3(SYNJ1):c.-34C>T rs968709804 0.00014
NM_001256864.2(DNAJC6):c.216G>A (p.Glu72=) rs146062011 0.00013
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=) rs76972835 0.00013
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=) rs267606107 0.00013
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) rs150595970 0.00012
NM_203446.3(SYNJ1):c.2795+16T>A rs533093953 0.00011
NM_001256864.2(DNAJC6):c.2298G>A (p.Ser766=) rs540477402 0.00010
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser) rs779059079 0.00010
NM_001256864.2(DNAJC6):c.2463C>T (p.Asn821=) rs193114909 0.00009
NM_001256864.2(DNAJC6):c.2697C>T (p.Thr899=) rs149097758 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.2304+20A>G rs142813430 0.00008
NM_203446.3(SYNJ1):c.2795+10T>C rs756959605 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.*411C>T rs369666497 0.00006
NM_203446.3(SYNJ1):c.-31G>C rs751083536 0.00006
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly) rs202234473 0.00006
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=) rs111655347 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.2909G>C (p.Ser970Thr) rs537389515 0.00006
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=) rs534726886 0.00006
NM_203446.3(SYNJ1):c.3392-5A>G rs776721216 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_001256864.2(DNAJC6):c.1194-9C>G rs370864885 0.00005
NM_001256864.2(DNAJC6):c.264G>A (p.Gly88=) rs139946043 0.00005
NM_001256864.2(DNAJC6):c.2838C>T (p.Tyr946=) rs148209150 0.00005
NM_203446.3(SYNJ1):c.*618A>G rs139212871 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.2976A>G (p.Ser992=) rs115204185 0.00005
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=) rs376132504 0.00005
NM_001256864.2(DNAJC6):c.1350T>C (p.Ser450=) rs202109326 0.00004
NM_001256864.2(DNAJC6):c.1374G>A (p.Thr458=) rs148673423 0.00004
NM_001256864.2(DNAJC6):c.186C>T (p.Asp62=) rs371984320 0.00004
NM_001256864.2(DNAJC6):c.2310G>A (p.Ala770=) rs113490907 0.00004
NM_001256864.2(DNAJC6):c.2526A>G (p.Leu842=) rs753691766 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.2586C>T (p.Val862=) rs771973400 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.3392-20A>G rs375300586 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_001256864.2(DNAJC6):c.144G>T (p.Arg48=) rs779540362 0.00003
NM_001256864.2(DNAJC6):c.1904-12A>G rs774888599 0.00003
NM_203446.3(SYNJ1):c.*666A>G rs763776246 0.00003
NM_203446.3(SYNJ1):c.*729G>A rs771278245 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.1002C>T (p.Asp334=) rs763601982 0.00003
NM_203446.3(SYNJ1):c.125-13del rs763797914 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.2146-8G>A rs759701632 0.00003
NM_203446.3(SYNJ1):c.243C>T (p.Val81=) rs769645055 0.00003
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=) rs746832641 0.00003
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile) rs377350366 0.00003
NM_203446.3(SYNJ1):c.3037+18A>G rs780721031 0.00003
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) rs551070196 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.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_001256864.2(DNAJC6):c.1533G>A (p.Glu511=) rs773744229 0.00002
NM_001256864.2(DNAJC6):c.2151C>T (p.Thr717=) rs145501615 0.00002
NM_203446.3(SYNJ1):c.*148A>C rs777068962 0.00002
NM_203446.3(SYNJ1):c.*720T>C rs1016040846 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.-64C>T rs869206401 0.00002
NM_203446.3(SYNJ1):c.-73C>G rs772641102 0.00002
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=) rs779977140 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.1959T>G (p.Val653=) rs747138067 0.00002
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=) rs987102051 0.00002
NM_203446.3(SYNJ1):c.2145+13T>C rs779562990 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.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.3327G>A (p.Pro1109=) rs1436978655 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.3693G>A (p.Ser1231=) rs755437097 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.41A>G (p.Asp14Gly) rs565807712 0.00002
NM_203446.3(SYNJ1):c.480-18T>G rs1242153000 0.00002
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=) rs376985894 0.00002
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile) rs749045961 0.00002
NC_000021.9:g.32728032C>T rs1250657533 0.00001
NM_001256864.2(DNAJC6):c.1755T>C (p.Phe585=) rs1412214392 0.00001
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_001256864.2(DNAJC6):c.751T>C (p.Leu251=) rs755098010 0.00001
NM_001256864.2(DNAJC6):c.897C>G (p.Pro299=) rs371261372 0.00001
NM_203446.3(SYNJ1):c.*108A>G rs371381727 0.00001
NM_203446.3(SYNJ1):c.*120G>A rs377721268 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.*21C>A rs756737216 0.00001
NM_203446.3(SYNJ1):c.*270C>T rs748033451 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.*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.*665C>G rs150753892 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.*798T>C rs1007414965 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.-37G>A rs1297512201 0.00001
NM_203446.3(SYNJ1):c.-61C>T rs932881262 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.1281A>G (p.Ser427=) rs1256463338 0.00001
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=) rs919941488 0.00001
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=) rs144728528 0.00001
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=) rs753893833 0.00001
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=) rs1461901564 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.1848G>A (p.Gln616=) rs1601348530 0.00001
NM_203446.3(SYNJ1):c.2146-14C>G rs775638018 0.00001
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=) rs924156740 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.2403C>T (p.Thr801=) rs755696516 0.00001
NM_203446.3(SYNJ1):c.2795+7T>C rs780616248 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.303T>C (p.Thr101=) rs1445704945 0.00001
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=) rs763564076 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.3324G>A (p.Pro1108=) rs757804939 0.00001
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=) rs372510070 0.00001
NM_203446.3(SYNJ1):c.3391+15T>A rs754412906 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.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.3588+15G>A rs540863552 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.3765G>A (p.Pro1255=) rs781500048 0.00001
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=) rs750931400 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.480-7C>T rs748707134 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.747C>T (p.Ile249=) rs766187063 0.00001
NM_203446.3(SYNJ1):c.790-18A>G rs764219821 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.873C>T (p.Asn291=) rs1326451805 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.981T>C (p.Asp327=) rs759120326 0.00001
NC_000021.9:g.32728023G>A
NC_000021.9:g.32728035C>T
NM_001256864.2(DNAJC6):c.117G>A (p.Gln39=)
NM_001256864.2(DNAJC6):c.1185G>A (p.Lys395=)
NM_001256864.2(DNAJC6):c.1269G>A (p.Gln423=) rs2101607355
NM_001256864.2(DNAJC6):c.1383A>G (p.Leu461=)
NM_001256864.2(DNAJC6):c.1431C>T (p.Tyr477=)
NM_001256864.2(DNAJC6):c.1569G>A (p.Pro523=)
NM_001256864.2(DNAJC6):c.156A>G (p.Arg52=)
NM_001256864.2(DNAJC6):c.1662G>A (p.Val554=)
NM_001256864.2(DNAJC6):c.1824T>C (p.Ser608=)
NM_001256864.2(DNAJC6):c.1845A>G (p.Ser615=) rs2101614479
NM_001256864.2(DNAJC6):c.194-13T>G rs765899995
NM_001256864.2(DNAJC6):c.194-15T>G
NM_001256864.2(DNAJC6):c.1974C>T (p.Asn658=)
NM_001256864.2(DNAJC6):c.2025G>T (p.Ser675=) rs185245369
NM_001256864.2(DNAJC6):c.2039-4G>T
NM_001256864.2(DNAJC6):c.2107+11G>T
NM_001256864.2(DNAJC6):c.210C>T (p.Asp70=)
NM_001256864.2(DNAJC6):c.2130G>A (p.Lys710=)
NM_001256864.2(DNAJC6):c.2205T>G (p.Pro735=)
NM_001256864.2(DNAJC6):c.2228-17T>A rs2101634939
NM_001256864.2(DNAJC6):c.2235T>C (p.Ser745=)
NM_001256864.2(DNAJC6):c.2370A>C (p.Pro790=)
NM_001256864.2(DNAJC6):c.2634+18C>T
NM_001256864.2(DNAJC6):c.2643A>G (p.Glu881=)
NM_001256864.2(DNAJC6):c.270C>T (p.Leu90=)
NM_001256864.2(DNAJC6):c.2790C>T (p.Val930=)
NM_001256864.2(DNAJC6):c.2799G>A (p.Val933=) rs764156036
NM_001256864.2(DNAJC6):c.344+12C>T
NM_001256864.2(DNAJC6):c.507A>G (p.Ser169=) rs2101558882
NM_001256864.2(DNAJC6):c.543+10T>G
NM_001256864.2(DNAJC6):c.666+10C>G rs373591833
NM_001256864.2(DNAJC6):c.750A>T (p.Arg250=) rs2101597985
NM_001256864.2(DNAJC6):c.789A>T (p.Pro263=)
NM_001256864.2(DNAJC6):c.801-14A>C rs758557034
NM_001256864.2(DNAJC6):c.876G>A (p.Ser292=)
NM_001256864.2(DNAJC6):c.995+16T>C rs1254823370
NM_001256864.2(DNAJC6):c.996-14G>T
NM_001256864.2(DNAJC6):c.996-15G>T
NM_203446.3(SYNJ1):c.*117A>G
NM_203446.3(SYNJ1):c.*135C>T
NM_203446.3(SYNJ1):c.*168T>C
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.*210A>C
NM_203446.3(SYNJ1):c.*234G>A
NM_203446.3(SYNJ1):c.*234G>T rs777299829
NM_203446.3(SYNJ1):c.*291C>G
NM_203446.3(SYNJ1):c.*303T>G rs2145657976
NM_203446.3(SYNJ1):c.*321T>C
NM_203446.3(SYNJ1):c.*345C>T
NM_203446.3(SYNJ1):c.*363G>A
NM_203446.3(SYNJ1):c.*387A>G
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.*453A>G
NM_203446.3(SYNJ1):c.*459A>G rs2039318354
NM_203446.3(SYNJ1):c.*474G>A rs767728958
NM_203446.3(SYNJ1):c.*576A>G
NM_203446.3(SYNJ1):c.*60A>C rs1020861731
NM_203446.3(SYNJ1):c.*60A>G rs1020861731
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.*669T>C
NM_203446.3(SYNJ1):c.*677_*679del rs528030561
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.*750A>G
NM_203446.3(SYNJ1):c.*753T>C rs2145654435
NM_203446.3(SYNJ1):c.*762G>C
NM_203446.3(SYNJ1):c.*783A>G
NM_203446.3(SYNJ1):c.*801A>G
NM_203446.3(SYNJ1):c.-22-19C>G
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+8A>G
NM_203446.3(SYNJ1):c.-25G>A rs2146446925
NM_203446.3(SYNJ1):c.-40G>A
NM_203446.3(SYNJ1):c.-4G>A
NM_203446.3(SYNJ1):c.-51A>C rs1394751497
NM_203446.3(SYNJ1):c.-58C>T
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.-70C>T
NM_203446.3(SYNJ1):c.-73C>A
NM_203446.3(SYNJ1):c.-76C>A
NM_203446.3(SYNJ1):c.-79T>G
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=) rs2146090232
NM_203446.3(SYNJ1):c.102G>A (p.Glu34=)
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=) rs2041819587
NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)
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.1150T>C (p.Leu384=) rs1382405019
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=) rs1179626154
NM_203446.3(SYNJ1):c.1200+19A>G
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.1227T>C (p.Leu409=)
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.1249T>C (p.Leu417=)
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.1311T>C (p.Ser437=) rs969673470
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=) rs1468223961
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=) rs964382126
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+7C>T
NM_203446.3(SYNJ1):c.1389T>A (p.Ile463=)
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=) rs2146025354
NM_203446.3(SYNJ1):c.1425C>G (p.Ala475=)
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=) rs2042422021
NM_203446.3(SYNJ1):c.1510+14A>G
NM_203446.3(SYNJ1):c.1511-16_1511-14del
NM_203446.3(SYNJ1):c.1534+9T>C rs754756374
NM_203446.3(SYNJ1):c.1535-18G>A rs1170021366
NM_203446.3(SYNJ1):c.1605A>G (p.Val535=)
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.162C>T (p.Ser54=) rs745320827
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=) rs1374033047
NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)
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.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.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.1842A>G (p.Glu614=)
NM_203446.3(SYNJ1):c.1845T>A (p.Leu615=)
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.1878G>A (p.Val626=) rs1601348321
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=) rs2145926496
NM_203446.3(SYNJ1):c.1950C>A (p.Ile650=)
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.2037T>C (p.His679=) rs2145923461
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=) rs780909870
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.2091C>G (p.Val697=)
NM_203446.3(SYNJ1):c.2091C>T (p.Val697=)
NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)
NM_203446.3(SYNJ1):c.211+11C>T
NM_203446.3(SYNJ1):c.212-13T>C
NM_203446.3(SYNJ1):c.212-15C>A
NM_203446.3(SYNJ1):c.2131T>C (p.Leu711=)
NM_203446.3(SYNJ1):c.2145+14G>A
NM_203446.3(SYNJ1):c.2145+18G>A
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.2211C>G (p.Leu737=)
NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)
NM_203446.3(SYNJ1):c.2277A>G (p.Gln759=)
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.231T>C (p.Tyr77=)
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=) rs367656251
NM_203446.3(SYNJ1):c.2385C>G (p.Thr795=)
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=) rs1429532362
NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)
NM_203446.3(SYNJ1):c.2421T>C (p.Arg807=)
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.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.2529A>C (p.Pro843=)
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr) rs1601309236
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=) rs61756207
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.258T>C (p.Ser86=)
NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=) rs2145851928
NM_203446.3(SYNJ1):c.2658T>C (p.Ile886=)
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=) rs939655575
NM_203446.3(SYNJ1):c.2733T>C (p.Asp911=)
NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=) rs2145850907
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=) rs1479701930
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=) rs1350091132
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.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.297T>C (p.Thr99=)
NM_203446.3(SYNJ1):c.2991C>T (p.Thr997=)
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=) rs2145809247
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.3038-12G>A
NM_203446.3(SYNJ1):c.3054T>C (p.Tyr1018=)
NM_203446.3(SYNJ1):c.3060T>A (p.Ala1020=)
NM_203446.3(SYNJ1):c.319C>A (p.Arg107=)
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.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.3252T>G (p.Ser1084=)
NM_203446.3(SYNJ1):c.3270A>C (p.Pro1090=)
NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)
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.3303G>A (p.Gln1101=)
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=) rs1601259728
NM_203446.3(SYNJ1):c.3360G>A (p.Pro1120=)
NM_203446.3(SYNJ1):c.3363T>C (p.Ala1121=)
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=) rs368850131
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.3396T>C (p.Ala1132=) rs1220663745
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=) rs1162976890
NM_203446.3(SYNJ1):c.3431-11del
NM_203446.3(SYNJ1):c.3431-6A>G rs1017765033
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=) rs2145756410
NM_203446.3(SYNJ1):c.3459A>G (p.Val1153=)
NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)
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+9A>T
NM_203446.3(SYNJ1):c.3479-14T>C rs2039869790
NM_203446.3(SYNJ1):c.3479-18T>C
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=) rs2039868331
NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)
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.3558A>T (p.Pro1186=) rs755614050
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=) rs1404447301
NM_203446.3(SYNJ1):c.3588+15G>C
NM_203446.3(SYNJ1):c.3588+7A>G rs990106590
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.3589-4G>A
NM_203446.3(SYNJ1):c.3589-8A>T rs2145726735
NM_203446.3(SYNJ1):c.3657G>A (p.Leu1219=)
NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)
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.3714T>G (p.Pro1238=) rs2145720898
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met) rs2230766
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.3756T>C (p.Ser1252=)
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=) rs1601231568
NM_203446.3(SYNJ1):c.3846C>G (p.Thr1282=)
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.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+7C>G rs2145719045
NM_203446.3(SYNJ1):c.393A>G (p.Ala131=)
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=) rs2146212579
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=) rs151248057
NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)
NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)
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.516C>T (p.Gly172=)
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=) rs2146174688
NM_203446.3(SYNJ1):c.540A>G (p.Leu180=)
NM_203446.3(SYNJ1):c.552T>C (p.Cys184=)
NM_203446.3(SYNJ1):c.561A>G (p.Val187=)
NM_203446.3(SYNJ1):c.576T>A (p.Ile192=)
NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)
NM_203446.3(SYNJ1):c.63A>T (p.Ile21=)
NM_203446.3(SYNJ1):c.654C>G (p.Val218=)
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.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.783G>A (p.Gly261=)
NM_203446.3(SYNJ1):c.789+10T>C rs1601446146
NM_203446.3(SYNJ1):c.789+20T>C
NM_203446.3(SYNJ1):c.789+8_789+11del rs751922511
NM_203446.3(SYNJ1):c.790-14T>G
NM_203446.3(SYNJ1):c.807C>G (p.Val269=)
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.876A>G (p.Leu292=)
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln) rs554456240
NM_203446.3(SYNJ1):c.918A>G (p.Glu306=)
NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)
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.969A>G (p.Glu323=) rs1601418926

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