ClinVar Miner

List of variants studied for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1013
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_173660.5(DOK7):c.101-11G>A rs2344209 0.13238
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_173660.5(DOK7):c.653-19A>C rs191981243 0.01231
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_173660.5(DOK7):c.54+19C>T rs757053604 0.00400
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_173660.5(DOK7):c.332-69_332-18del rs1560212382 0.00242
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_173660.5(DOK7):c.532+18G>A rs200487431 0.00153
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) rs202073484 0.00135
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_173660.5(DOK7):c.332-43_332-18del rs781466203 0.00108
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_173660.5(DOK7):c.1020C>T (p.Ile340=) rs370838856 0.00059
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 0.00038
NM_173660.5(DOK7):c.332-5C>T rs375468951 0.00037
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.972G>A (p.Pro324=) rs373041663 0.00036
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys) rs115883468 0.00032
NM_173660.5(DOK7):c.975G>A (p.Arg325=) rs370661591 0.00031
NM_173660.5(DOK7):c.567G>A (p.Gly189=) rs141808910 0.00030
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr) rs539190403 0.00027
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln) rs144269117 0.00027
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) rs370039804 0.00026
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
NM_173660.5(DOK7):c.54+23_54+24insA rs759348603 0.00024
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) rs146895834 0.00024
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.282C>T (p.His94=) rs377025553 0.00022
NM_173660.5(DOK7):c.846C>T (p.Thr282=) rs141147662 0.00022
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu) rs141141719 0.00021
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_173660.5(DOK7):c.54+31G>T rs762404326 0.00018
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) rs200675356 0.00016
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_173660.5(DOK7):c.1233T>C (p.Leu411=) rs539706052 0.00014
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) rs373864257 0.00013
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) rs148650015 0.00013
NM_173660.5(DOK7):c.752C>T (p.Ala251Val) rs376251309 0.00013
NM_173660.5(DOK7):c.1406C>A (p.Pro469His) rs147185207 0.00011
NM_173660.5(DOK7):c.1434C>T (p.Gly478=) rs781007084 0.00011
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln) rs576215366 0.00011
NM_173660.5(DOK7):c.931A>G (p.Met311Val) rs752949999 0.00011
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_173660.5(DOK7):c.1470G>A (p.Ser490=) rs543344505 0.00010
NM_173660.5(DOK7):c.332-13C>T rs778628534 0.00010
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu) rs560882592 0.00010
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00009
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) rs560463670 0.00009
NM_173660.5(DOK7):c.1290G>A (p.Ala430=) rs538047872 0.00009
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.561C>T (p.Ala187=) rs140026458 0.00009
NM_173660.5(DOK7):c.597C>T (p.Ile199=) rs771302576 0.00009
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_173660.5(DOK7):c.1084G>A (p.Val362Met) rs760157322 0.00008
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg) rs200593935 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.213C>T (p.Tyr71=) rs760236131 0.00008
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys) rs770653049 0.00008
NM_173660.5(DOK7):c.54+13C>T rs912327595 0.00008
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.804A>G (p.Ser268=) rs781113489 0.00008
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_173660.5(DOK7):c.297G>A (p.Ala99=) rs201351460 0.00007
NM_173660.5(DOK7):c.903A>C (p.Pro301=) rs145040126 0.00007
NM_173660.5(DOK7):c.1014C>T (p.Ser338=) rs768867580 0.00006
NM_173660.5(DOK7):c.1107G>A (p.Leu369=) rs778918520 0.00006
NM_173660.5(DOK7):c.1170C>T (p.Pro390=) rs199525739 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser) rs140519765 0.00006
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly) rs775074100 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) rs759395609 0.00006
NM_173660.5(DOK7):c.327C>T (p.Gly109=) rs377367035 0.00006
NM_173660.5(DOK7):c.532+9G>A rs374795386 0.00006
NM_173660.5(DOK7):c.54+32G>C rs763739780 0.00006
NM_173660.5(DOK7):c.639G>A (p.Arg213=) rs1411499971 0.00006
NM_173660.5(DOK7):c.653-9C>G rs1350076940 0.00006
NM_173660.5(DOK7):c.882G>A (p.Thr294=) rs369425286 0.00006
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) rs759691572 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln) rs750929473 0.00006
NM_173660.5(DOK7):c.996C>T (p.Arg332=) rs781199587 0.00006
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.201C>T (p.Pro67=) rs770153614 0.00005
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.331+16C>T rs577280323 0.00005
NM_173660.5(DOK7):c.378C>T (p.Ser126=) rs753043554 0.00005
NM_173660.5(DOK7):c.54+8C>T rs577687998 0.00005
NM_173660.5(DOK7):c.653-18G>C rs762076600 0.00005
NM_173660.5(DOK7):c.822C>T (p.Asp274=) rs141732576 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00005
NM_173660.5(DOK7):c.1023C>T (p.Ala341=) rs773612095 0.00004
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser) rs760412846 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly) rs771017173 0.00004
NM_173660.5(DOK7):c.1386C>T (p.Ser462=) rs776733631 0.00004
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala) rs748438470 0.00004
NM_173660.5(DOK7):c.257C>T (p.Ala86Val) rs575986565 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.54+10C>T rs1260785223 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.652+14C>G rs368188578 0.00004
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 0.00004
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.773-7G>A rs775008753 0.00004
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu) rs763936252 0.00004
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu) rs748566350 0.00004
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala) rs143821601 0.00004
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=) rs200284964 0.00003
NM_173660.5(DOK7):c.1083C>T (p.Asp361=) rs554026540 0.00003
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser) rs574663125 0.00003
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg) rs865879271 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.332-6C>G rs1482072459 0.00003
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn) rs368106071 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_173660.5(DOK7):c.486C>T (p.Ala162=) rs371609452 0.00003
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser) rs762376200 0.00003
NM_173660.5(DOK7):c.54+3C>T rs1560200971 0.00003
NM_173660.5(DOK7):c.55-16C>T rs976572936 0.00003
NM_173660.5(DOK7):c.564G>A (p.Glu188=) rs375631042 0.00003
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr) rs1219693310 0.00003
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) rs371408752 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly) rs370967580 0.00003
NM_173660.5(DOK7):c.773-18C>T rs749706359 0.00003
NM_173660.5(DOK7):c.828C>T (p.Ser276=) rs772682276 0.00003
NM_173660.5(DOK7):c.864C>G (p.Ser288=) rs554816775 0.00003
NM_173660.5(DOK7):c.94G>A (p.Val32Met) rs1417673287 0.00003
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro) rs752168445 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_173660.5(DOK7):c.101-16G>A rs755933024 0.00002
NM_173660.5(DOK7):c.1059G>A (p.Ser353=) rs781086422 0.00002
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu) rs1418197383 0.00002
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) rs751691265 0.00002
NM_173660.5(DOK7):c.1197C>T (p.Thr399=) rs756540534 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg) rs142510199 0.00002
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val) rs745414274 0.00002
NM_173660.5(DOK7):c.1314G>A (p.Thr438=) rs371276345 0.00002
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp) rs915179362 0.00002
NM_173660.5(DOK7):c.1458G>A (p.Pro486=) rs763843300 0.00002
NM_173660.5(DOK7):c.1506C>T (p.Pro502=) rs753827494 0.00002
NM_173660.5(DOK7):c.321G>A (p.Ala107=) rs769702844 0.00002
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp) rs1319317420 0.00002
NM_173660.5(DOK7):c.453G>A (p.Gln151=) rs764598148 0.00002
NM_173660.5(DOK7):c.54+31_54+32insT rs1245236150 0.00002
NM_173660.5(DOK7):c.55-10G>A rs886043943 0.00002
NM_173660.5(DOK7):c.55-19C>T rs1316334613 0.00002
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu) rs772577244 0.00002
NM_173660.5(DOK7):c.623G>T (p.Gly208Val) rs572714394 0.00002
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys) rs756962738 0.00002
NM_173660.5(DOK7):c.689G>A (p.Arg230His) rs760941977 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr) rs139429423 0.00002
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00002
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu) rs1478257270 0.00002
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg) rs747816956 0.00002
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_173660.5(DOK7):c.100+18G>A rs1361843879 0.00001
NM_173660.5(DOK7):c.1056C>T (p.Leu352=) rs751252312 0.00001
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro) rs931160069 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.1092G>T (p.Arg364=) rs767282152 0.00001
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala) rs556239795 0.00001
NM_173660.5(DOK7):c.109C>T (p.Leu37=) rs1283794146 0.00001
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly) rs375795223 0.00001
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro) rs760412846 0.00001
NM_173660.5(DOK7):c.1158C>T (p.Cys386=) rs770365337 0.00001
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly) rs1027188166 0.00001
NM_173660.5(DOK7):c.1227C>T (p.Arg409=) rs762828158 0.00001
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly) rs547633164 0.00001
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile) rs1392647950 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp) rs2020433 0.00001
NM_173660.5(DOK7):c.12G>A (p.Ala4=) rs1202693776 0.00001
NM_173660.5(DOK7):c.1347G>A (p.Thr449=) rs776624533 0.00001
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln) rs777057956 0.00001
NM_173660.5(DOK7):c.1360C>T (p.Leu454=) rs1231920444 0.00001
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg) rs753317302 0.00001
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg) rs898026035 0.00001
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys) rs745941308 0.00001
NM_173660.5(DOK7):c.1401T>C (p.Pro467=) rs764419050 0.00001
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser) rs764872565 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.1443C>T (p.His481=) rs749462644 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu) rs761289689 0.00001
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) rs1057518522 0.00001
NM_173660.5(DOK7):c.1452A>G (p.Pro484=) rs1462346774 0.00001
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu) rs773679215 0.00001
NM_173660.5(DOK7):c.1482C>T (p.Val494=) rs771501211 0.00001
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter) rs1219587536 0.00001
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg) rs1189551686 0.00001
NM_173660.5(DOK7):c.151C>A (p.Leu51Met) rs761336523 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys) rs1024410823 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu) rs376659660 0.00001
NM_173660.5(DOK7):c.386C>T (p.Ala129Val) rs1158650422 0.00001
NM_173660.5(DOK7):c.408T>C (p.Asp136=) rs1219485664 0.00001
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile) rs747942116 0.00001
NM_173660.5(DOK7):c.415G>A (p.Val139Ile) rs571769859 0.00001
NM_173660.5(DOK7):c.429C>T (p.Asp143=) rs747023250 0.00001
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NM_173660.5(DOK7):c.438G>C (p.Pro146=) rs776760690 0.00001
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr) rs1362167631 0.00001
NM_173660.5(DOK7):c.460C>G (p.Leu154Val) rs775014794 0.00001
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.476G>A (p.Arg159His) rs1485585052 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser) rs142756576 0.00001
NM_173660.5(DOK7):c.495C>T (p.Ser165=) rs1405222108 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln) rs1726073976 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys) rs1388813398 0.00001
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn) rs760505816 0.00001
NM_173660.5(DOK7):c.579C>T (p.Ser193=) rs766358840 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
NM_173660.5(DOK7):c.598G>A (p.Val200Ile) rs1388192187 0.00001
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln) rs1339181692 0.00001
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro) rs553985062 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 0.00001
NM_173660.5(DOK7):c.652+5G>A rs772918388 0.00001
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala) rs956613882 0.00001
NM_173660.5(DOK7):c.663C>G (p.Pro221=) rs914998338 0.00001
NM_173660.5(DOK7):c.666G>A (p.Pro222=) rs756895721 0.00001
NM_173660.5(DOK7):c.675G>A (p.Ser225=) rs780065823 0.00001
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala) rs1447016347 0.00001
NM_173660.5(DOK7):c.691G>A (p.Val231Met) rs369297851 0.00001
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg) rs1023898774 0.00001
NM_173660.5(DOK7):c.759G>A (p.Arg253=) rs759824901 0.00001
NM_173660.5(DOK7):c.762G>A (p.Pro254=) rs763623892 0.00001
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly) rs750004938 0.00001
NM_173660.5(DOK7):c.772+9G>A rs778823411 0.00001
NM_173660.5(DOK7):c.849A>G (p.Ala283=) rs756234763 0.00001
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile) rs767303929 0.00001
NM_173660.5(DOK7):c.939T>G (p.Gly313=) rs1321389143 0.00001
NM_173660.5(DOK7):c.945A>C (p.Ser315=) rs757723197 0.00001
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) rs898373845 0.00001
NC_000004.11:g.(?_2822345)_(3495228_?)del
NC_000004.11:g.(?_3465093)_(3495238_?)dup
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3465103)_(3465298_?)dup
NC_000004.11:g.(?_3465103)_(3495228_?)dup
NC_000004.11:g.(?_3478049)_(3478289_?)del
NC_000004.11:g.(?_3478200)_(3482970_?)del
NC_000004.11:g.(?_3488757)_(3495159_?)del
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.11:g.(?_3494787)_3495019dup
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3473386)_(3489816_?)del
NC_000004.12:g.(?_3485519)_(3493521_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NC_000004.12:g.(?_3485529)_(3493511_?)del
NM_173660.5(DOK7):c.100+11C>G
NM_173660.5(DOK7):c.100+11C>T
NM_173660.5(DOK7):c.100+12G>A
NM_173660.5(DOK7):c.100+14G>C
NM_173660.5(DOK7):c.100+15C>A
NM_173660.5(DOK7):c.100+17G>A
NM_173660.5(DOK7):c.100+1G>A
NM_173660.5(DOK7):c.100+21_100+36del
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) rs1467473001
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn) rs2109418165
NM_173660.5(DOK7):c.101-12C>T
NM_173660.5(DOK7):c.101-13A>G
NM_173660.5(DOK7):c.101-15C>T
NM_173660.5(DOK7):c.101-17G>A
NM_173660.5(DOK7):c.101-17G>T
NM_173660.5(DOK7):c.101-18C>T
NM_173660.5(DOK7):c.101-20G>A
NM_173660.5(DOK7):c.101-8C>G
NM_173660.5(DOK7):c.1011C>T (p.Asp337=)
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala) rs1728608485
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
NM_173660.5(DOK7):c.1026T>G (p.Thr342=) rs1437244628
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly) rs2109418322
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
NM_173660.5(DOK7):c.1034A>G (p.His345Arg) rs1577182623
NM_173660.5(DOK7):c.1035C>T (p.His345=)
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys) rs568530359
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn) rs1728615373
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg) rs2109418499
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val) rs1037224921
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) rs368512847
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val) rs368512847
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
NM_173660.5(DOK7):c.1068G>T (p.Ala356=) rs372407972
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs) rs1560232833
NM_173660.5(DOK7):c.1080G>A (p.Leu360=)
NM_173660.5(DOK7):c.1080G>T (p.Leu360=) rs2109418743
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu) rs763666945
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu) rs201304841
NM_173660.5(DOK7):c.1095C>G (p.Ala365=)
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala) rs1728624628
NM_173660.5(DOK7):c.111G>A (p.Leu37=) rs2109335875
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala) rs1728631866
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn) rs1728632467
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro) rs1728632885
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) rs149525610
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) rs149525610
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu) rs753513427
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
NM_173660.5(DOK7):c.1176A>C (p.Thr392=)
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
NM_173660.5(DOK7):c.1179C>G (p.Val393=) rs138797230
NM_173660.5(DOK7):c.1179C>T (p.Val393=) rs138797230
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
NM_173660.5(DOK7):c.1188G>A (p.Gln396=) rs1577183241
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro) rs370039804
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
NM_173660.5(DOK7):c.1227C>A (p.Arg409=) rs762828158
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg) rs547633164
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
NM_173660.5(DOK7):c.1236C>T (p.Cys412=) rs556834250
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
NM_173660.5(DOK7):c.1244C>T (p.Pro415Leu)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg) rs2109420373
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr) rs150497723
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
NM_173660.5(DOK7):c.1260C>T (p.Pro420=)
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
NM_173660.5(DOK7):c.1263C>A (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
NM_173660.5(DOK7):c.1263C>T (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1264del (p.Ser422fs) rs1258346283
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1269G>A (p.Gln423=) rs1247286969
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
NM_173660.5(DOK7):c.1272C>T (p.Gly424=) rs1728651445
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
NM_173660.5(DOK7):c.1278C>G (p.Pro426=) rs139468087
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg) rs377555406
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
NM_173660.5(DOK7):c.1287T>C (p.Ser429=) rs1255756275
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
NM_173660.5(DOK7):c.1292C>G (p.Ala431Gly)
NM_173660.5(DOK7):c.1296G>A (p.Arg432=) rs1288310207
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
NM_173660.5(DOK7):c.1302A>G (p.Ser434=)
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>G (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>T (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) rs201392182
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp) rs1458938692
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met) rs376805794
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser) rs753026831
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1323G>A (p.Gly441=) rs755615582
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) rs748946433
NM_173660.5(DOK7):c.1329C>G (p.Pro443=) rs768213796
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
NM_173660.5(DOK7):c.1356G>C (p.Arg452=) rs1728663876
NM_173660.5(DOK7):c.1358dup (p.Leu454fs) rs775544277
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
NM_173660.5(DOK7):c.1363G>A (p.Val455Met) rs765823074
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle) rs1728665309
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp) rs1455617490
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
NM_173660.5(DOK7):c.1383C>T (p.Gly461=)
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln) rs745941308
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter) rs745941308
NM_173660.5(DOK7):c.1389G>A (p.Glu463=)
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) rs1577148448
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys) rs781665230
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) rs1728671600
NM_173660.5(DOK7):c.1410C>A (p.Ala470=)
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
NM_173660.5(DOK7):c.1416C>T (p.Gly472=) rs769793776
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp) rs2109422552
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg) rs140519765
NM_173660.5(DOK7):c.1437C>T (p.Gly479=)
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
NM_173660.5(DOK7):c.1441dup (p.His481fs) rs1168106708
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu) rs767980190
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.1458G>T (p.Pro486=) rs763843300
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr) rs751342277
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro) rs751342277
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp) rs768805841
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.1477C>T (p.Pro493Ser)
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg) rs751223916
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn) rs1560234858
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile) rs1041024260
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser) rs779975668
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
NM_173660.5(DOK7):c.1508dup (p.Pro504fs) rs773220689
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr) rs1560234920
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) rs1553850437
NM_173660.5(DOK7):c.156G>A (p.Arg52=)
NM_173660.5(DOK7):c.159G>A (p.Glu53=) rs1008787863
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu) rs201818140
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly) rs550137245
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys) rs550137245
NM_173660.5(DOK7):c.168C>T (p.Ser56=) rs2109336068
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_173660.5(DOK7):c.220C>T (p.Leu74=)
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys) rs940346413
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
NM_173660.5(DOK7):c.241G>C (p.Val81Leu) rs763046127
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
NM_173660.5(DOK7):c.264G>T (p.Met88Ile) rs1244768842
NM_173660.5(DOK7):c.27C>A (p.Gly9=) rs768798756
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
NM_173660.5(DOK7):c.288C>T (p.Ala96=) rs890259305
NM_173660.5(DOK7):c.289A>G (p.Met97Val) rs2109336403
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser) rs1726898976
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter) rs2109336441
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
NM_173660.5(DOK7):c.30G>A (p.Gln10=) rs1341926638
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
NM_173660.5(DOK7):c.318T>A (p.Tyr106Ter)
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
NM_173660.5(DOK7):c.331+10G>A
NM_173660.5(DOK7):c.331+10G>T
NM_173660.5(DOK7):c.331+11G>C
NM_173660.5(DOK7):c.331+11GGGGCC[3] rs745546967
NM_173660.5(DOK7):c.331+14G>T
NM_173660.5(DOK7):c.331+15C>G
NM_173660.5(DOK7):c.331+15_331+16del
NM_173660.5(DOK7):c.331+17G>A
NM_173660.5(DOK7):c.331+18G>A
NM_173660.5(DOK7):c.331+20_331+25del
NM_173660.5(DOK7):c.331+4_331+5del rs2109336551
NM_173660.5(DOK7):c.331+7G>A
NM_173660.5(DOK7):c.332-107_332-4del rs1727060359
NM_173660.5(DOK7):c.332-12G>A
NM_173660.5(DOK7):c.332-12G>C
NM_173660.5(DOK7):c.332-15C>T
NM_173660.5(DOK7):c.332-17G>A
NM_173660.5(DOK7):c.332-18T>A
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.332-4G>C
NM_173660.5(DOK7):c.332-7C>A
NM_173660.5(DOK7):c.332-95_332-18del
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
NM_173660.5(DOK7):c.333G>A (p.Val111=) rs1197491516
NM_173660.5(DOK7):c.336T>C (p.His112=)
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr) rs951094929
NM_173660.5(DOK7):c.363C>T (p.Gly121=) rs1427150506
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
NM_173660.5(DOK7):c.366C>G (p.Thr122=) rs1365607498
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
NM_173660.5(DOK7):c.394C>A (p.His132Asn) rs755692930
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
NM_173660.5(DOK7):c.399C>T (p.Leu133=) rs2109343497
NM_173660.5(DOK7):c.411C>A (p.Val137=)
NM_173660.5(DOK7):c.411C>T (p.Val137=)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.429del (p.Asp143fs)
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn) rs1726072530
NM_173660.5(DOK7):c.440C>T (p.Ala147Val) rs1560212754
NM_173660.5(DOK7):c.442G>T (p.Val148Phe) rs2109343658
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala) rs759723884
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) rs1727096342
NM_173660.5(DOK7):c.45C>T (p.Asp15=) rs759054772
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
NM_173660.5(DOK7):c.469C>G (p.Leu157Val) rs1727097545
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg) rs764824461
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_173660.5(DOK7):c.487G>A (p.Val163Met) rs746946329
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly) rs1470827824
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
NM_173660.5(DOK7):c.501C>T (p.Phe167=) rs1374098055
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
NM_173660.5(DOK7):c.528del (p.Tyr177fs)
NM_173660.5(DOK7):c.532+13G>A
NM_173660.5(DOK7):c.532+15G>A
NM_173660.5(DOK7):c.532+20G>A rs2109344000
NM_173660.5(DOK7):c.532+4A>C
NM_173660.5(DOK7):c.532+8C>T
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-15G>C
NM_173660.5(DOK7):c.533-16T>C
NM_173660.5(DOK7):c.533-17_533-16del
NM_173660.5(DOK7):c.533-19C>T
NM_173660.5(DOK7):c.533-4G>A
NM_173660.5(DOK7):c.533-6C>T rs1727716278
NM_173660.5(DOK7):c.533-8C>G
NM_173660.5(DOK7):c.533-9C>T
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) rs1727716645
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro) rs756146556
NM_173660.5(DOK7):c.54+11G>A
NM_173660.5(DOK7):c.54+13C>A
NM_173660.5(DOK7):c.54+16G>A
NM_173660.5(DOK7):c.54+20G>A rs1480112817
NM_173660.5(DOK7):c.54+20del rs1726078584
NM_173660.5(DOK7):c.54+21C>G
NM_173660.5(DOK7):c.54+21C>T rs865893625
NM_173660.5(DOK7):c.54+21_54+22del
NM_173660.5(DOK7):c.54+21del rs1170595407
NM_173660.5(DOK7):c.54+22G>A rs1726079112
NM_173660.5(DOK7):c.54+22G>T rs1726079112
NM_173660.5(DOK7):c.54+22_54+23insA
NM_173660.5(DOK7):c.54+22_54+23insC
NM_173660.5(DOK7):c.54+22_54+23insT
NM_173660.5(DOK7):c.54+23G>C rs781051112
NM_173660.5(DOK7):c.54+23G>T rs781051112
NM_173660.5(DOK7):c.54+23_54+24insCG
NM_173660.5(DOK7):c.54+23_54+24insT
NM_173660.5(DOK7):c.54+24G>A
NM_173660.5(DOK7):c.54+24G>C
NM_173660.5(DOK7):c.54+24_54+25insA
NM_173660.5(DOK7):c.54+24_54+25insC
NM_173660.5(DOK7):c.54+24_54+25insT
NM_173660.5(DOK7):c.54+25G>A rs769791490
NM_173660.5(DOK7):c.54+25G>C
NM_173660.5(DOK7):c.54+25G>T
NM_173660.5(DOK7):c.54+25_54+26insA
NM_173660.5(DOK7):c.54+25_54+26insAGG
NM_173660.5(DOK7):c.54+25_54+26insC rs767285554
NM_173660.5(DOK7):c.54+25_54+26insCG rs906657133
NM_173660.5(DOK7):c.54+25_54+26insT
NM_173660.5(DOK7):c.54+25_55-32del
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.54+26G>A
NM_173660.5(DOK7):c.54+26G>C rs543525751
NM_173660.5(DOK7):c.54+26G>T rs543525751
NM_173660.5(DOK7):c.54+26_54+27insA
NM_173660.5(DOK7):c.54+26_54+27insAGGGG rs1553844254
NM_173660.5(DOK7):c.54+26_54+27insC
NM_173660.5(DOK7):c.54+26_54+27insT
NM_173660.5(DOK7):c.54+27G>A rs774468059
NM_173660.5(DOK7):c.54+27G>C rs774468059
NM_173660.5(DOK7):c.54+27G>T rs774468059
NM_173660.5(DOK7):c.54+27_54+28insA
NM_173660.5(DOK7):c.54+27_54+28insC rs1282356351
NM_173660.5(DOK7):c.54+27_54+28insCG
NM_173660.5(DOK7):c.54+27_54+28insT
NM_173660.5(DOK7):c.54+28G>A
NM_173660.5(DOK7):c.54+28G>C rs772575255
NM_173660.5(DOK7):c.54+28G>T rs772575255
NM_173660.5(DOK7):c.54+28_54+29insA rs777859905
NM_173660.5(DOK7):c.54+28_54+29insC
NM_173660.5(DOK7):c.54+28_54+29insCG
NM_173660.5(DOK7):c.54+28_54+29insT
NM_173660.5(DOK7):c.54+29G>A
NM_173660.5(DOK7):c.54+29G>C rs767030857
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.54+29_54+30insA
NM_173660.5(DOK7):c.54+29_54+30insC
NM_173660.5(DOK7):c.54+29_54+30insT
NM_173660.5(DOK7):c.54+30G>A rs562528761
NM_173660.5(DOK7):c.54+30G>T rs562528761
NM_173660.5(DOK7):c.54+30_54+31insA
NM_173660.5(DOK7):c.54+31G>A
NM_173660.5(DOK7):c.54+31G>C
NM_173660.5(DOK7):c.54+31GGGCGC[3]
NM_173660.5(DOK7):c.54+31_54+32insC
NM_173660.5(DOK7):c.54+31_54+32insCGCG
NM_173660.5(DOK7):c.54+31_54+33del rs71180187
NM_173660.5(DOK7):c.54+32G>T
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33dup rs71180187
NM_173660.5(DOK7):c.54+32_54+33insC
NM_173660.5(DOK7):c.54+32_54+33insCGCGG rs1485695721
NM_173660.5(DOK7):c.54+32_54+33insTG
NM_173660.5(DOK7):c.54+33G>A
NM_173660.5(DOK7):c.54+33G>C rs943989420
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG rs1553844286
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
NM_173660.5(DOK7):c.54+33del rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.54+34C>G
NM_173660.5(DOK7):c.54+34C>T rs751188494
NM_173660.5(DOK7):c.54+34_54+37del
NM_173660.5(DOK7):c.54+34_54+38del
NM_173660.5(DOK7):c.54+34del rs1726087779
NM_173660.5(DOK7):c.54+34dup
NM_173660.5(DOK7):c.54+36C>G
NM_173660.5(DOK7):c.54+36_54+37del rs1289091767
NM_173660.5(DOK7):c.54+38G>C
NM_173660.5(DOK7):c.54+7G>A
NM_173660.5(DOK7):c.54+8_54+17dup
NM_173660.5(DOK7):c.54+9G>A
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.549C>T (p.Phe183=) rs1448680067
NM_173660.5(DOK7):c.55-12C>G
NM_173660.5(DOK7):c.55-12_55-11del
NM_173660.5(DOK7):c.55-12del rs1214849085
NM_173660.5(DOK7):c.55-13C>G rs886038744
NM_173660.5(DOK7):c.55-13C>T
NM_173660.5(DOK7):c.55-15C>G
NM_173660.5(DOK7):c.55-16C>A rs976572936
NM_173660.5(DOK7):c.55-17C>T
NM_173660.5(DOK7):c.55-18_55-17insA
NM_173660.5(DOK7):c.55-38G>A
NM_173660.5(DOK7):c.55-4G>A
NM_173660.5(DOK7):c.55-7C>A
NM_173660.5(DOK7):c.55-8C>T rs2109312415
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro) rs1220205278
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp) rs375631042
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp) rs1727720417
NM_173660.5(DOK7):c.570G>A (p.Glu190=) rs962876610
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) rs149940009
NM_173660.5(DOK7):c.588C>T (p.Phe196=) rs149940009
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
NM_173660.5(DOK7):c.600C>A (p.Val200=)
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
NM_173660.5(DOK7):c.612C>T (p.Ser204=) rs2109370734
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
NM_173660.5(DOK7):c.615C>G (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.615C>T (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) rs1240579533
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
NM_173660.5(DOK7):c.624C>A (p.Gly208=)
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
NM_173660.5(DOK7):c.633G>A (p.Gly211=)
NM_173660.5(DOK7):c.633G>T (p.Gly211=) rs1577165754
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro) rs371408752
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu) rs371408752
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
NM_173660.5(DOK7):c.642G>C (p.Pro214=) rs746371931
NM_173660.5(DOK7):c.642G>T (p.Pro214=)
NM_173660.5(DOK7):c.652+16T>G
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.652+20C>G
NM_173660.5(DOK7):c.652+20C>T
NM_173660.5(DOK7):c.652+4C>T rs374675986
NM_173660.5(DOK7):c.652+8T>C
NM_173660.5(DOK7):c.652+9G>A
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
NM_173660.5(DOK7):c.653-11_653-8del
NM_173660.5(DOK7):c.653-13C>T
NM_173660.5(DOK7):c.653-18G>A
NM_173660.5(DOK7):c.653-20G>A
NM_173660.5(DOK7):c.653-20G>C
NM_173660.5(DOK7):c.653-20G>T rs185980724
NM_173660.5(DOK7):c.653-20del
NM_173660.5(DOK7):c.653-3C>T rs767745850
NM_173660.5(DOK7):c.653-4A>G rs1577171863
NM_173660.5(DOK7):c.653-5C>T
NM_173660.5(DOK7):c.653-6C>T
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu) rs1728055459
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr) rs377167511
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser) rs377167511
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
NM_173660.5(DOK7):c.66G>A (p.Arg22=) rs1726093217
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu) rs2109312461
NM_173660.5(DOK7):c.690T>G (p.Arg230=) rs1577172106
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr) rs2109389067
NM_173660.5(DOK7):c.741C>T (p.Leu247=)
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
NM_173660.5(DOK7):c.753G>C (p.Ala251=) rs59932476
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
NM_173660.5(DOK7):c.757_772+3del
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del) rs373384998
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg) rs200407250
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) rs200407250
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.762G>T (p.Pro254=)
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+18C>G
NM_173660.5(DOK7):c.772+2_772+4delinsCCGGGCAGGCGGGCA
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.772+8C>G
NM_173660.5(DOK7):c.773-10T>G
NM_173660.5(DOK7):c.773-11C>T
NM_173660.5(DOK7):c.773-12G>A
NM_173660.5(DOK7):c.773-13T>C
NM_173660.5(DOK7):c.773-15C>G
NM_173660.5(DOK7):c.773-15C>T
NM_173660.5(DOK7):c.773-19G>A
NM_173660.5(DOK7):c.773-19G>T
NM_173660.5(DOK7):c.773-1G>A rs1268475752
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.773-20G>C
NM_173660.5(DOK7):c.773-2A>C rs1229979805
NM_173660.5(DOK7):c.773-2A>T rs1229979805
NM_173660.5(DOK7):c.773-7_773-4del
NM_173660.5(DOK7):c.773-8_797del
NM_173660.5(DOK7):c.773-9C>G
NM_173660.5(DOK7):c.773-9C>T rs376190589
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) rs142821143
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.783C>G (p.Arg261=) rs1366900661
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys) rs763233743
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
NM_173660.5(DOK7):c.810_811del (p.His272fs) rs778227501
NM_173660.5(DOK7):c.814C>T (p.His272Tyr) rs1226413438
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
NM_173660.5(DOK7):c.81G>A (p.Arg27=)
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) rs1372127333
NM_173660.5(DOK7):c.825C>G (p.Val275=)
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys) rs1577181909
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln) rs1577181909
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
NM_173660.5(DOK7):c.867G>C (p.Ser289=) rs145862647
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del) rs749831515
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.870G>A (p.Ser290=) rs149019681
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
NM_173660.5(DOK7):c.873A>T (p.Ser291=)
NM_173660.5(DOK7):c.875C>T (p.Ala292Val) rs761676338
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) rs151079259
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu) rs6811423
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys) rs1728590424
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu) rs1553850025
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
NM_173660.5(DOK7):c.918C>G (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
NM_173660.5(DOK7):c.924G>T (p.Gly308=)
NM_173660.5(DOK7):c.925del (p.Glu309fs) rs1182982672
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser) rs1313698372
NM_173660.5(DOK7):c.93C>A (p.Pro31=)
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
NM_173660.5(DOK7):c.946A>C (p.Arg316=) rs898373845
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
NM_173660.5(DOK7):c.957C>T (p.Pro319=) rs777573281
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
NM_173660.5(DOK7):c.963G>A (p.Pro321=) rs112624739
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_173660.5(DOK7):c.96G>A (p.Val32=)
NM_173660.5(DOK7):c.96G>T (p.Val32=)
NM_173660.5(DOK7):c.973C>A (p.Arg325=) rs376280466
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs) rs2109417797
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr) rs1425852835
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg) rs752168445
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
NM_173660.5(DOK7):c.999G>A (p.Gln333=)

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