ClinVar Miner

List of variants studied for Warburg micro syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 810
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HGVS dbSNP gnomAD frequency
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_144628.4(TBC1D20):c.71-49T>G rs6139203 0.48145
NM_144628.4(TBC1D20):c.71-210G>A rs6037661 0.48070
NM_144628.4(TBC1D20):c.337+88G>T rs2273465 0.43662
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NC_000002.12:g.135170722G>T rs2305247 0.06411
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881 0.01091
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_021252.5(RAB18):c.*2327T>C rs183252579 0.00679
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065 0.00503
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012233.3(RAB3GAP1):c.*303G>A rs72980321 0.00455
NM_012414.4(RAB3GAP2):c.*2638C>T rs74139286 0.00455
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601 0.00444
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_021252.5(RAB18):c.*557G>A rs77758705 0.00432
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_021252.5(RAB18):c.*741A>G rs114899806 0.00382
NM_021252.5(RAB18):c.*2974C>G rs532562164 0.00370
NM_012414.4(RAB3GAP2):c.*2399A>G rs115637988 0.00369
NM_012414.4(RAB3GAP2):c.*1404T>C rs188666578 0.00355
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_012414.4(RAB3GAP2):c.*1527G>C rs185153185 0.00255
NM_021252.5(RAB18):c.*419G>A rs569311945 0.00253
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_021252.5(RAB18):c.*635G>A rs558244526 0.00193
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_012414.4(RAB3GAP2):c.*1538T>C rs143472001 0.00175
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096 0.00164
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000 0.00161
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183 0.00158
NM_021252.5(RAB18):c.*254A>G rs75899834 0.00158
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203 0.00146
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_021252.5(RAB18):c.*3559C>T rs117041769 0.00129
NM_012414.4(RAB3GAP2):c.*78G>A rs773904586 0.00116
NM_012414.4(RAB3GAP2):c.*391C>T rs180750746 0.00105
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292 0.00104
NM_012414.4(RAB3GAP2):c.*2171A>G rs570021838 0.00103
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00102
NM_012233.3(RAB3GAP1):c.*1397C>T rs147177352 0.00098
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_021252.5(RAB18):c.*402T>C rs555933024 0.00096
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192 0.00088
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_021252.5(RAB18):c.*956A>C rs770434733 0.00082
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_012414.4(RAB3GAP2):c.1632-16A>G rs191799009 0.00058
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) rs145701892 0.00056
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) rs143010678 0.00055
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_021252.5(RAB18):c.*3167G>A rs546186493 0.00052
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.2295C>T (p.Ser765=) rs143994202 0.00049
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) rs111859466 0.00047
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_021252.5(RAB18):c.*1895G>C rs746613469 0.00045
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_021252.5(RAB18):c.*1779A>T rs544225499 0.00043
NM_021252.5(RAB18):c.*946G>T rs561667494 0.00043
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304 0.00041
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_012233.3(RAB3GAP1):c.*1611A>T rs188370805 0.00035
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) rs149010855 0.00034
NM_021252.5(RAB18):c.*1136G>A rs753649409 0.00034
NM_012233.3(RAB3GAP1):c.*647T>C rs553227077 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_021252.5(RAB18):c.*2242A>G rs186240753 0.00032
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992 0.00031
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_021252.5(RAB18):c.*1047T>G rs983211187 0.00028
NM_021252.5(RAB18):c.*2302A>G rs190504134 0.00027
NM_021252.5(RAB18):c.*3543G>A rs747609242 0.00027
NM_021252.5(RAB18):c.*1110A>G rs79403948 0.00026
NM_012414.4(RAB3GAP2):c.*2176G>C rs370566079 0.00023
NM_012414.4(RAB3GAP2):c.-87A>G rs576041163 0.00023
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_012414.4(RAB3GAP2):c.*2518A>G rs528100310 0.00022
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00021
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355 0.00021
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3337-6C>T rs137894782 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_021252.5(RAB18):c.*1141T>C rs751708158 0.00020
NM_021252.5(RAB18):c.*3729G>C rs530960985 0.00020
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_021252.5(RAB18):c.*1842A>G rs758153438 0.00019
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_021252.5(RAB18):c.*1845G>T rs186064414 0.00016
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.1856C>T (p.Thr619Ile) rs146728785 0.00013
NM_012414.4(RAB3GAP2):c.2212+15A>T rs375627012 0.00013
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) rs1446997240 0.00013
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720 0.00013
NM_021252.5(RAB18):c.*1502G>C rs767488036 0.00013
NM_021252.5(RAB18):c.*2862T>C rs767741672 0.00013
NM_021252.5(RAB18):c.*992C>A rs763254596 0.00013
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_012414.4(RAB3GAP2):c.465C>T (p.Cys155=) rs144263040 0.00012
NM_012233.3(RAB3GAP1):c.*346G>A rs534792972 0.00011
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_021252.4(RAB18):c.-144T>A rs780539442 0.00011
NM_021252.5(RAB18):c.*170T>C rs567179590 0.00011
NM_012233.3(RAB3GAP1):c.*170C>T rs180839370 0.00010
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_021252.5(RAB18):c.*2943A>G rs886046975 0.00010
NM_021252.5(RAB18):c.*3193C>T rs886046978 0.00010
NM_021252.5(RAB18):c.*4185G>A rs772242395 0.00010
NM_012233.3(RAB3GAP1):c.*1534G>A rs994607354 0.00009
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009 0.00009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_021252.5(RAB18):c.*3222C>T rs751337334 0.00009
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys) rs541272906 0.00008
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) rs767842373 0.00008
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.2940T>A (p.Leu980=) rs373793377 0.00008
NM_012233.3(RAB3GAP1):c.*201T>G rs78044288 0.00007
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589 0.00007
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_021252.5(RAB18):c.*3927A>G rs886046981 0.00007
NM_012233.3(RAB3GAP1):c.*1693G>C rs144378327 0.00006
NM_012233.3(RAB3GAP1):c.*1764C>G rs917952866 0.00006
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) rs200175711 0.00006
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426 0.00006
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) rs751620093 0.00006
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) rs562096116 0.00006
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) rs371029254 0.00006
NM_021252.5(RAB18):c.*1696T>A rs886046973 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_021252.5(RAB18):c.36C>A (p.Leu12=) rs61757825 0.00006
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) rs190213580 0.00006
NM_012233.3(RAB3GAP1):c.*1209T>C rs962177642 0.00005
NM_012233.3(RAB3GAP1):c.*507A>G rs186189305 0.00005
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00005
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=) rs372594666 0.00005
NM_021252.5(RAB18):c.*2420C>A rs770379811 0.00005
NM_021252.5(RAB18):c.*764A>G rs749045175 0.00005
NM_021252.5(RAB18):c.*906A>G rs377745201 0.00005
NM_012233.3(RAB3GAP1):c.*1898G>A rs1008193661 0.00004
NM_012233.3(RAB3GAP1):c.*557T>C rs576779170 0.00004
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala) rs148190655 0.00004
NM_012414.4(RAB3GAP2):c.*104T>C rs1041418234 0.00004
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.1407G>A (p.Ala469=) rs375443204 0.00004
NM_012414.4(RAB3GAP2):c.2955G>A (p.Met985Ile) rs754509783 0.00004
NM_012414.4(RAB3GAP2):c.2962G>A (p.Asp988Asn) rs369645487 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.3336+10G>T rs771074307 0.00004
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_021252.5(RAB18):c.*3166C>T rs886046977 0.00004
NM_021252.5(RAB18):c.-41A>G rs770276006 0.00004
NM_012233.3(RAB3GAP1):c.*1247T>C rs1027342528 0.00003
NM_012233.3(RAB3GAP1):c.*324T>G rs886054855 0.00003
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.*2347T>C rs886046010 0.00003
NM_012414.4(RAB3GAP2):c.*2901G>T rs533792649 0.00003
NM_012414.4(RAB3GAP2):c.-68C>T rs989511076 0.00003
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415 0.00003
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) rs770787571 0.00003
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) rs756886302 0.00003
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) rs774771619 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2534A>G (p.His845Arg) rs183772495 0.00003
NM_012414.4(RAB3GAP2):c.3648C>T (p.Phe1216=) rs745868602 0.00003
NM_012414.4(RAB3GAP2):c.4027-5T>C rs779800010 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.506C>T (p.Thr169Ile) rs140312751 0.00003
NM_012414.4(RAB3GAP2):c.614A>G (p.Asn205Ser) rs148476958 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012414.4(RAB3GAP2):c.960+14C>T rs752258077 0.00003
NM_021252.5(RAB18):c.*1452G>A rs1045270686 0.00003
NM_021252.5(RAB18):c.*3330G>C rs537665208 0.00003
NM_021252.5(RAB18):c.*382C>T rs886046971 0.00003
NM_021252.5(RAB18):c.*4008C>T rs538921321 0.00003
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) rs201430480 0.00002
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) rs776999297 0.00002
NM_012414.4(RAB3GAP2):c.*1791T>C rs556118037 0.00002
NM_012414.4(RAB3GAP2):c.1041-19_1041-18del rs746233410 0.00002
NM_012414.4(RAB3GAP2):c.115+11C>G rs375507434 0.00002
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) rs749859259 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012414.4(RAB3GAP2):c.2401C>T (p.Leu801=) rs773701395 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012414.4(RAB3GAP2):c.3094C>T (p.Arg1032Cys) rs777414532 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.3996A>G (p.Pro1332=) rs768393894 0.00002
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) rs767664284 0.00002
NM_012414.4(RAB3GAP2):c.540G>A (p.Leu180=) rs751363013 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_021252.5(RAB18):c.*1943G>A rs560571679 0.00002
NM_021252.5(RAB18):c.*325C>G rs886046970 0.00002
NM_021252.5(RAB18):c.*3766C>A rs1414340838 0.00002
NM_021252.5(RAB18):c.*4038A>T rs746250477 0.00002
NM_021252.5(RAB18):c.*8G>A rs371434806 0.00002
NM_012233.3(RAB3GAP1):c.*1056G>A rs946863592 0.00001
NM_012233.3(RAB3GAP1):c.*1272T>C rs1452526339 0.00001
NM_012233.3(RAB3GAP1):c.*1511G>A rs575731807 0.00001
NM_012233.3(RAB3GAP1):c.*1543T>C rs1221954343 0.00001
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) rs886054852 0.00001
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp) rs771433559 0.00001
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg) rs772002275 0.00001
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln) rs752599043 0.00001
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn) rs1287391427 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
NM_012414.4(RAB3GAP2):c.*2769G>T rs886046006 0.00001
NM_012414.4(RAB3GAP2):c.*436A>G rs1027206904 0.00001
NM_012414.4(RAB3GAP2):c.*537G>C rs886046015 0.00001
NM_012414.4(RAB3GAP2):c.*572G>T rs540128548 0.00001
NM_012414.4(RAB3GAP2):c.-20T>C rs926169525 0.00001
NM_012414.4(RAB3GAP2):c.-48A>G rs767297724 0.00001
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) rs779972563 0.00001
NM_012414.4(RAB3GAP2):c.108G>A (p.Arg36=) rs765320215 0.00001
NM_012414.4(RAB3GAP2):c.1097C>T (p.Pro366Leu) rs988513386 0.00001
NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys) rs755157552 0.00001
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) rs763764406 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) rs747104956 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2051C>A (p.Ala684Glu) rs746414664 0.00001
NM_012414.4(RAB3GAP2):c.2117G>A (p.Gly706Asp) rs775609069 0.00001
NM_012414.4(RAB3GAP2):c.2264T>G (p.Met755Arg) rs1232753900 0.00001
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) rs746962559 0.00001
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) rs752461001 0.00001
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244 0.00001
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106 0.00001
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093 0.00001
NM_012414.4(RAB3GAP2):c.267G>A (p.Met89Ile) rs376681173 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) rs763047721 0.00001
NM_012414.4(RAB3GAP2):c.309A>C (p.Lys103Asn) rs1425618506 0.00001
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426 0.00001
NM_012414.4(RAB3GAP2):c.3336+15T>C rs373879791 0.00001
NM_012414.4(RAB3GAP2):c.3453C>T (p.His1151=) rs1300023412 0.00001
NM_012414.4(RAB3GAP2):c.3526G>A (p.Val1176Met) rs754940777 0.00001
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) rs148340670 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) rs1378967581 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.3818A>G (p.His1273Arg) rs370057302 0.00001
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) rs886046024 0.00001
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018 0.00001
NM_012414.4(RAB3GAP2):c.4026+10A>G rs746827542 0.00001
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) rs778754576 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_012414.4(RAB3GAP2):c.516T>C (p.Gly172=) rs568628754 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.612+15T>C rs777576498 0.00001
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) rs189134236 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_021252.5(RAB18):c.*1041A>G rs767104854 0.00001
NM_021252.5(RAB18):c.*1089C>A rs189434439 0.00001
NM_021252.5(RAB18):c.*1800A>G rs923872579 0.00001
NM_021252.5(RAB18):c.*2788C>T rs886046974 0.00001
NM_021252.5(RAB18):c.*3906G>A rs1473295756 0.00001
NM_021252.5(RAB18):c.*407G>T rs575299893 0.00001
NM_021252.5(RAB18):c.*560C>T rs1414516239 0.00001
NM_021252.5(RAB18):c.*62C>T rs886046969 0.00001
NM_021252.5(RAB18):c.*890G>A rs539207601 0.00001
NM_021252.5(RAB18):c.183A>G (p.Ile61Met) rs767743901 0.00001
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) rs1203985321 0.00001
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) rs886046967 0.00001
NM_021252.5(RAB18):c.68+10A>G rs886046965 0.00001
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp) rs761833391 0.00001
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
NC_000001.10:g.(?_218520044)_(220986760_?)del
NC_000001.10:g.(?_220088791)_(220406225_?)dup
NC_000001.10:g.(?_220088791)_(220445679_?)dup
NC_000001.10:g.(?_220330592)_(220335630_?)del
NC_000001.10:g.(?_220345211)_(220375736_?)dup
NC_000002.12:g.(?_135052292)_(135176396_?)del
NG_032035.1:g.(5265_10701)_(10758_27654)del
NM_012233.3(RAB3GAP1):c.*1107A>C rs568271625
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*1212A>G rs1427874543
NM_012233.3(RAB3GAP1):c.*174T>C rs886054854
NM_012233.3(RAB3GAP1):c.*252T>G rs7564565
NM_012233.3(RAB3GAP1):c.*255T>G rs7564566
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.*547A>G rs886054856
NM_012233.3(RAB3GAP1):c.*822T>G rs1175250342
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) rs886054851
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) rs780827916
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) rs2104943498
NM_012233.3(RAB3GAP1):c.120del (p.Ile40fs)
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) rs755867265
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
NM_012233.3(RAB3GAP1):c.1381del (p.Ala461fs)
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) rs1691647986
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.1924-3C>T rs984857143
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) rs886054853
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer) rs2104983369
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) rs748968368
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) rs1558805781
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2710-1G>A
NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr) rs77535003
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs) rs2104879312
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser) rs1688906713
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) rs886054850
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) rs779596900
NM_012233.3(RAB3GAP1):c.419_420del (p.Leu140fs)
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) rs143078664
NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1087A>C rs1558135886
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1340T>C rs1657714085
NM_012414.4(RAB3GAP2):c.*1560A>G rs1422943080
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2336T>G rs1049662170
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2386A>C rs1657684140
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.*417A>G rs576040740
NM_012414.4(RAB3GAP2):c.*509G>A rs1046907825
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1030A>G (p.Asn344Asp) rs1174986383
NM_012414.4(RAB3GAP2):c.1038C>A (p.Ala346=)
NM_012414.4(RAB3GAP2):c.103C>T (p.Arg35Trp)
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_012414.4(RAB3GAP2):c.1040+7A>T
NM_012414.4(RAB3GAP2):c.1059A>G (p.Lys353=) rs371000771
NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)
NM_012414.4(RAB3GAP2):c.1078G>C (p.Ala360Pro)
NM_012414.4(RAB3GAP2):c.1083C>A (p.Val361=) rs2102871802
NM_012414.4(RAB3GAP2):c.1102G>A (p.Val368Ile)
NM_012414.4(RAB3GAP2):c.1105G>A (p.Glu369Lys) rs2102871785
NM_012414.4(RAB3GAP2):c.1125T>C (p.Ala375=)
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.1131-7A>C
NM_012414.4(RAB3GAP2):c.115+12T>C
NM_012414.4(RAB3GAP2):c.1151G>C (p.Arg384Thr)
NM_012414.4(RAB3GAP2):c.116-15T>C
NM_012414.4(RAB3GAP2):c.1183T>C (p.Cys395Arg) rs2102870921
NM_012414.4(RAB3GAP2):c.1194G>A (p.Leu398=)
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012414.4(RAB3GAP2):c.1216G>A (p.Gly406Ser)
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) rs1658659314
NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)
NM_012414.4(RAB3GAP2):c.1270+18C>G
NM_012414.4(RAB3GAP2):c.1272G>A (p.Gly424=)
NM_012414.4(RAB3GAP2):c.1275C>T (p.Tyr425=)
NM_012414.4(RAB3GAP2):c.1278C>T (p.Arg426=)
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.1307T>C (p.Val436Ala)
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) rs1658613102
NM_012414.4(RAB3GAP2):c.1344T>C (p.Asp448=)
NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)
NM_012414.4(RAB3GAP2):c.1347T>C (p.Phe449=)
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
NM_012414.4(RAB3GAP2):c.1367A>G (p.Gln456Arg)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) rs1468198640
NM_012414.4(RAB3GAP2):c.1376G>A (p.Ser459Asn)
NM_012414.4(RAB3GAP2):c.1378C>A (p.Arg460=)
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) rs757551395
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)
NM_012414.4(RAB3GAP2):c.1431G>A (p.Val477=)
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1446G>A (p.Gln482=)
NM_012414.4(RAB3GAP2):c.1463C>G (p.Ala488Gly) rs201655012
NM_012414.4(RAB3GAP2):c.1487+14G>A rs1658608277
NM_012414.4(RAB3GAP2):c.1487+16T>C
NM_012414.4(RAB3GAP2):c.1488-14T>C
NM_012414.4(RAB3GAP2):c.1488-15A>G
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) rs1658595836
NM_012414.4(RAB3GAP2):c.151G>A (p.Ala51Thr)
NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)
NM_012414.4(RAB3GAP2):c.154T>C (p.Trp52Arg)
NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) rs149563712
NM_012414.4(RAB3GAP2):c.1584G>T (p.Val528=) rs372216761
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1622T>C (p.Leu541Ser)
NM_012414.4(RAB3GAP2):c.1624G>T (p.Ala542Ser)
NM_012414.4(RAB3GAP2):c.1631+10G>A
NM_012414.4(RAB3GAP2):c.1631+14A>G
NM_012414.4(RAB3GAP2):c.1631+16T>C
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1631+6G>T
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) rs1374925013
NM_012414.4(RAB3GAP2):c.1667T>G (p.Leu556Arg)
NM_012414.4(RAB3GAP2):c.1687T>G (p.Leu563Val)
NM_012414.4(RAB3GAP2):c.1712T>A (p.Leu571His) rs2102869135
NM_012414.4(RAB3GAP2):c.1714+5G>A
NM_012414.4(RAB3GAP2):c.1715-12T>A
NM_012414.4(RAB3GAP2):c.1715-16del
NM_012414.4(RAB3GAP2):c.1715-18T>C
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_012414.4(RAB3GAP2):c.1715-20_1715-17del
NM_012414.4(RAB3GAP2):c.172C>A (p.Gln58Lys)
NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)
NM_012414.4(RAB3GAP2):c.1779+11A>G
NM_012414.4(RAB3GAP2):c.1779+16A>T
NM_012414.4(RAB3GAP2):c.1779+19C>T
NM_012414.4(RAB3GAP2):c.1789A>G (p.Ser597Gly)
NM_012414.4(RAB3GAP2):c.180+18T>C
NM_012414.4(RAB3GAP2):c.1814C>A (p.Pro605Gln)
NM_012414.4(RAB3GAP2):c.1870+8G>C
NM_012414.4(RAB3GAP2):c.1871-9G>A rs1358973733
NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)
NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)
NM_012414.4(RAB3GAP2):c.1929G>A (p.Leu643=) rs1392025960
NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)
NM_012414.4(RAB3GAP2):c.1998+1G>A rs2102866054
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.1999-2del
NM_012414.4(RAB3GAP2):c.2007T>G (p.Ala669=)
NM_012414.4(RAB3GAP2):c.2014C>T (p.Leu672=)
NM_012414.4(RAB3GAP2):c.2020C>T (p.Leu674Phe)
NM_012414.4(RAB3GAP2):c.2055A>G (p.Leu685=)
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) rs1658438143
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) rs1659134905
NM_012414.4(RAB3GAP2):c.206C>T (p.Thr69Ile)
NM_012414.4(RAB3GAP2):c.2076G>A (p.Glu692=)
NM_012414.4(RAB3GAP2):c.2090A>G (p.Asn697Ser)
NM_012414.4(RAB3GAP2):c.2113G>A (p.Asp705Asn) rs906042384
NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)
NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)
NM_012414.4(RAB3GAP2):c.2171T>C (p.Leu724Pro)
NM_012414.4(RAB3GAP2):c.2205G>A (p.Val735=)
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2212+16C>T
NM_012414.4(RAB3GAP2):c.2212+18C>A
NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)
NM_012414.4(RAB3GAP2):c.2253C>T (p.Ser751=)
NM_012414.4(RAB3GAP2):c.2256T>C (p.Thr752=)
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) rs1553275637
NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)
NM_012414.4(RAB3GAP2):c.2283G>A (p.Ser761=)
NM_012414.4(RAB3GAP2):c.230A>T (p.Asp77Val)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2311-19del
NM_012414.4(RAB3GAP2):c.235G>C (p.Val79Leu)
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012414.4(RAB3GAP2):c.2371A>G (p.Ile791Val)
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2416+18C>G
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2424C>T (p.Ile808=)
NM_012414.4(RAB3GAP2):c.2428G>A (p.Glu810Lys)
NM_012414.4(RAB3GAP2):c.2453C>G (p.Ser818Cys)
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) rs374334249
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) rs1658187235
NM_012414.4(RAB3GAP2):c.2489A>G (p.Gln830Arg) rs2102859411
NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)
NM_012414.4(RAB3GAP2):c.2508C>T (p.Ala836=)
NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)
NM_012414.4(RAB3GAP2):c.2523G>A (p.Ala841=)
NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)
NM_012414.4(RAB3GAP2):c.2532G>T (p.Gly844=)
NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)
NM_012414.4(RAB3GAP2):c.2562C>T (p.Asn854=)
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) rs1658184967
NM_012414.4(RAB3GAP2):c.2578-5A>T
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.2583C>T (p.Ser861=)
NM_012414.4(RAB3GAP2):c.2586A>G (p.Gln862=)
NM_012414.4(RAB3GAP2):c.2610G>A (p.Glu870=)
NM_012414.4(RAB3GAP2):c.2611G>A (p.Ala871Thr)
NM_012414.4(RAB3GAP2):c.2622T>C (p.Asp874=)
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.265A>G (p.Met89Val)
NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)
NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)
NM_012414.4(RAB3GAP2):c.2751G>T (p.Leu917=)
NM_012414.4(RAB3GAP2):c.2756C>G (p.Ala919Gly) rs2102858848
NM_012414.4(RAB3GAP2):c.2758G>A (p.Glu920Lys)
NM_012414.4(RAB3GAP2):c.2807-4A>G
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) rs1659133093
NM_012414.4(RAB3GAP2):c.2852T>A (p.Phe951Tyr)
NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)
NM_012414.4(RAB3GAP2):c.2866T>C (p.Leu956=)
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) rs1658094190
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)
NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)
NM_012414.4(RAB3GAP2):c.2980+7C>T
NM_012414.4(RAB3GAP2):c.2981-9_2981-6del rs766834201
NM_012414.4(RAB3GAP2):c.2986C>T (p.Leu996=)
NM_012414.4(RAB3GAP2):c.2988G>A (p.Leu996=) rs2102857054
NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)
NM_012414.4(RAB3GAP2):c.3012T>C (p.Pro1004=)
NM_012414.4(RAB3GAP2):c.3038A>C (p.His1013Pro)
NM_012414.4(RAB3GAP2):c.303G>A (p.Val101=)
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.304+15A>G
NM_012414.4(RAB3GAP2):c.304+19T>G
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.305-16A>T
NM_012414.4(RAB3GAP2):c.305-24_305-20del rs770097677
NM_012414.4(RAB3GAP2):c.305-6T>A
NM_012414.4(RAB3GAP2):c.3060C>T (p.Tyr1020=)
NM_012414.4(RAB3GAP2):c.3061G>A (p.Val1021Ile)
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3087+11C>T
NM_012414.4(RAB3GAP2):c.3087+12G>A
NM_012414.4(RAB3GAP2):c.3088-16T>C
NM_012414.4(RAB3GAP2):c.3088-5G>A
NM_012414.4(RAB3GAP2):c.3088-9G>A
NM_012414.4(RAB3GAP2):c.3101T>G (p.Phe1034Cys)
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3141A>G (p.Ala1047=)
NM_012414.4(RAB3GAP2):c.3144T>C (p.His1048=)
NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)
NM_012414.4(RAB3GAP2):c.3147T>G (p.Val1049=)
NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)
NM_012414.4(RAB3GAP2):c.3154+15G>C
NM_012414.4(RAB3GAP2):c.3154+3A>G rs1658032998
NM_012414.4(RAB3GAP2):c.3154+9del
NM_012414.4(RAB3GAP2):c.3155-14T>C
NM_012414.4(RAB3GAP2):c.3155-8C>T
NM_012414.4(RAB3GAP2):c.3156C>T (p.Gly1052=)
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) rs765738431
NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)
NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)
NM_012414.4(RAB3GAP2):c.3225+5G>C
NM_012414.4(RAB3GAP2):c.3226-12T>G
NM_012414.4(RAB3GAP2):c.3226-17T>C
NM_012414.4(RAB3GAP2):c.3232A>C (p.Lys1078Gln)
NM_012414.4(RAB3GAP2):c.3240A>G (p.Pro1080=) rs1289153615
NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3262-8A>C
NM_012414.4(RAB3GAP2):c.3280A>C (p.Thr1094Pro)
NM_012414.4(RAB3GAP2):c.3288G>A (p.Met1096Ile)
NM_012414.4(RAB3GAP2):c.3291A>T (p.Thr1097=) rs1411747717
NM_012414.4(RAB3GAP2):c.3297C>T (p.Phe1099=)
NM_012414.4(RAB3GAP2):c.3301G>A (p.Gly1101Ser)
NM_012414.4(RAB3GAP2):c.3314A>G (p.Asp1105Gly)
NM_012414.4(RAB3GAP2):c.3321T>C (p.Leu1107=)
NM_012414.4(RAB3GAP2):c.3336+9G>C
NM_012414.4(RAB3GAP2):c.3337-8A>C
NM_012414.4(RAB3GAP2):c.3353A>T (p.Asp1118Val)
NM_012414.4(RAB3GAP2):c.3380C>G (p.Thr1127Ser)
NM_012414.4(RAB3GAP2):c.3396C>T (p.Leu1132=)
NM_012414.4(RAB3GAP2):c.3399C>T (p.Ser1133=)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
NM_012414.4(RAB3GAP2):c.3427C>T (p.Leu1143=)
NM_012414.4(RAB3GAP2):c.3456C>T (p.Tyr1152=)
NM_012414.4(RAB3GAP2):c.345A>G (p.Gln115=)
NM_012414.4(RAB3GAP2):c.3471C>T (p.His1157=) rs200552845
NM_012414.4(RAB3GAP2):c.3551G>T (p.Ser1184Ile)
NM_012414.4(RAB3GAP2):c.3555+16del
NM_012414.4(RAB3GAP2):c.3556-8_3556-5del rs1289721687
NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)
NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)
NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)
NM_012414.4(RAB3GAP2):c.359G>A (p.Trp120Ter)
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
NM_012414.4(RAB3GAP2):c.3614T>G (p.Met1205Arg)
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.3646-21_3646-18del
NM_012414.4(RAB3GAP2):c.3657A>G (p.Lys1219=)
NM_012414.4(RAB3GAP2):c.3690A>G (p.Ser1230=) rs1161462546
NM_012414.4(RAB3GAP2):c.3693C>T (p.Ala1231=)
NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)
NM_012414.4(RAB3GAP2):c.3713C>T (p.Thr1238Ile)
NM_012414.4(RAB3GAP2):c.372A>G (p.Leu124=) rs2102881432
NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)
NM_012414.4(RAB3GAP2):c.3752A>T (p.Asp1251Val) rs769405335
NM_012414.4(RAB3GAP2):c.3786C>T (p.His1262=)
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.3867+10A>G
NM_012414.4(RAB3GAP2):c.3868-18C>T
NM_012414.4(RAB3GAP2):c.387-18T>A
NM_012414.4(RAB3GAP2):c.3876A>G (p.Leu1292=)
NM_012414.4(RAB3GAP2):c.3924G>A (p.Thr1308=)
NM_012414.4(RAB3GAP2):c.3925G>A (p.Gly1309Arg)
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)
NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)
NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_012414.4(RAB3GAP2):c.4026+11T>G
NM_012414.4(RAB3GAP2):c.4026+12A>G
NM_012414.4(RAB3GAP2):c.4026+13G>A rs771446188
NM_012414.4(RAB3GAP2):c.4026+19G>C
NM_012414.4(RAB3GAP2):c.4026+7A>G
NM_012414.4(RAB3GAP2):c.4027-15G>C
NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)
NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)
NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln) rs1558136466
NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)
NM_012414.4(RAB3GAP2):c.408A>G (p.Leu136=)
NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)
NM_012414.4(RAB3GAP2):c.4119G>A (p.Gly1373=) rs763962470
NM_012414.4(RAB3GAP2):c.411T>C (p.Cys137=)
NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)
NM_012414.4(RAB3GAP2):c.4179A>G (p.Leu1393=)
NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)
NM_012414.4(RAB3GAP2):c.42C>T (p.Leu14=)
NM_012414.4(RAB3GAP2):c.435-15T>C
NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)
NM_012414.4(RAB3GAP2):c.496C>T (p.Arg166Cys)
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) rs1659068803
NM_012414.4(RAB3GAP2):c.510+17A>G
NM_012414.4(RAB3GAP2):c.511-18_511-17insCCTCTTGTTTCCTCTGTGCTTC rs747465884
NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)
NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)
NM_012414.4(RAB3GAP2):c.550C>T (p.Pro184Ser)
NM_012414.4(RAB3GAP2):c.600C>T (p.Gly200=)
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-15_613-14del
NM_012414.4(RAB3GAP2):c.613-17T>C
NM_012414.4(RAB3GAP2):c.613-20T>G
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.613-6A>T
NM_012414.4(RAB3GAP2):c.613-9C>T rs1478594196
NM_012414.4(RAB3GAP2):c.613A>G (p.Asn205Asp)
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
NM_012414.4(RAB3GAP2):c.700C>G (p.Gln234Glu) rs2102877645
NM_012414.4(RAB3GAP2):c.701A>G (p.Gln234Arg)
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) rs1658954750
NM_012414.4(RAB3GAP2):c.712+18A>T
NM_012414.4(RAB3GAP2):c.72C>T (p.His24=)
NM_012414.4(RAB3GAP2):c.738A>G (p.Ile246Met)
NM_012414.4(RAB3GAP2):c.745C>T (p.Pro249Ser)
NM_012414.4(RAB3GAP2):c.747A>C (p.Pro249=) rs780485524
NM_012414.4(RAB3GAP2):c.76C>A (p.Arg26=)
NM_012414.4(RAB3GAP2):c.770G>T (p.Gly257Val)
NM_012414.4(RAB3GAP2):c.811+17C>T
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012414.4(RAB3GAP2):c.873T>C (p.Asn291=) rs1463280020
NM_012414.4(RAB3GAP2):c.893C>T (p.Pro298Leu)
NM_012414.4(RAB3GAP2):c.898G>A (p.Ala300Thr)
NM_012414.4(RAB3GAP2):c.927C>A (p.Ser309=) rs1397365740
NM_012414.4(RAB3GAP2):c.927C>T (p.Ser309=)
NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)
NM_012414.4(RAB3GAP2):c.960+16A>G
NM_012414.4(RAB3GAP2):c.960+17T>C
NM_012414.4(RAB3GAP2):c.972A>G (p.Gln324=)
NM_012414.4(RAB3GAP2):c.984C>T (p.Ser328=) rs1234105204
NM_021252.4(RAB18):c.-150G>A rs527459548
NM_021252.4(RAB18):c.-182G>A rs770568854
NM_021252.4(RAB18):c.-79T>A rs886046964
NM_021252.5(RAB18):c.*150C>A rs768390542
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*1589T>C rs1017507424
NM_021252.5(RAB18):c.*1680A>T rs886046972
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*2085A>C rs1834992154
NM_021252.5(RAB18):c.*2985T>G rs1835014857
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3227A>G rs1835021406
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701GACT[1] rs759695566
NM_021252.5(RAB18):c.*3832C>A rs373663292
NM_021252.5(RAB18):c.*4039A>C rs886046982
NM_021252.5(RAB18):c.*822T>C rs1834959018
NM_021252.5(RAB18):c.*99C>T rs767920219
NM_021252.5(RAB18):c.103C>T (p.Pro35Ser)
NM_021252.5(RAB18):c.199C>G (p.Gln67Glu)
NM_021252.5(RAB18):c.260-43_260-42del rs72201756
NM_021252.5(RAB18):c.270C>A (p.Val90=) rs750139202
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.298G>C (p.Asp100His) rs748274360
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter) rs587777157
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter) rs587777158
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs) rs587777159
NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) rs587777160
NM_144628.4(TBC1D20):c.874A>G (p.Ile292Val) rs374330245

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