ClinVar Miner

List of variants reported as uncertain significance for fetal akinesia deformation sequence by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 701
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 0.00038
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr) rs374657556 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_005592.4(MUSK):c.1516A>G (p.Ile506Val) rs191581729 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_005592.4(MUSK):c.1061C>T (p.Thr354Met) rs200064775 0.00010
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr) rs776201930 0.00010
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 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.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg) rs201291910 0.00008
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr) rs199507468 0.00008
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.214G>A (p.Glu72Lys) rs770653049 0.00008
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) rs201804790 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.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_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 0.00005
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser) rs747203404 0.00005
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu) rs181652070 0.00005
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.54+8C>T rs577687998 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_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005592.4(MUSK):c.1100G>A (p.Arg367Gln) rs1038479586 0.00004
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr) rs760757288 0.00004
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln) rs188464904 0.00004
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg) rs1319203200 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.1477C>G (p.Pro493Ala) rs748438470 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 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_005055.5(RAPSN):c.124C>T (p.Arg42Cys) rs201197735 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys) rs773285595 0.00003
NM_005592.4(MUSK):c.1385-3C>T rs775863015 0.00003
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr) rs776545636 0.00003
NM_005592.4(MUSK):c.2300G>A (p.Arg767His) rs370079610 0.00003
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr) rs547322569 0.00003
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn) rs187347916 0.00003
NM_005592.4(MUSK):c.754-6T>A rs762500701 0.00003
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 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.36G>T (p.Lys12Asn) rs368106071 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.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.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_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe) rs376041895 0.00002
NM_005055.5(RAPSN):c.650G>A (p.Arg217His) rs763058066 0.00002
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys) rs373175897 0.00002
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile) rs571312240 0.00002
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys) rs751972431 0.00002
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp) rs369240171 0.00002
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met) rs777107917 0.00002
NM_005592.4(MUSK):c.1657A>G (p.Met553Val) rs753213086 0.00002
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn) rs147562871 0.00002
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys) rs760793449 0.00002
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser) rs779042240 0.00002
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg) rs1216581384 0.00002
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln) rs764486887 0.00002
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys) rs769657813 0.00002
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln) rs754275653 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys) rs371157090 0.00002
NM_005592.4(MUSK):c.667G>A (p.Val223Ile) rs774463260 0.00002
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser) rs747154421 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.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.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp) rs915179362 0.00002
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp) rs1319317420 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_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys) rs756519962 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys) rs1165174416 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln) rs568433059 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn) rs781724566 0.00001
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala) rs770016019 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe) rs1256816164 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr) rs780985479 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro) rs780963721 0.00001
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn) rs750888238 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.912+6G>A rs781362707 0.00001
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr) rs758777519 0.00001
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser) rs768323977 0.00001
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe) rs747717789 0.00001
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu) rs770907001 0.00001
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys) rs745722798 0.00001
NM_005592.4(MUSK):c.1279C>G (p.His427Asp) rs751266636 0.00001
NM_005592.4(MUSK):c.1291G>A (p.Val431Met) rs372013406 0.00001
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro) rs763800237 0.00001
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro) rs1161905783 0.00001
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile) rs1467052958 0.00001
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln) rs773818596 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val) rs953823198 0.00001
NM_005592.4(MUSK):c.1813A>G (p.Met605Val) rs758777089 0.00001
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val) rs769807910 0.00001
NM_005592.4(MUSK):c.1915G>A (p.Val639Met) rs766810675 0.00001
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser) rs751851038 0.00001
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His) rs760452360 0.00001
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys) rs754730206 0.00001
NM_005592.4(MUSK):c.206+5G>A rs767539226 0.00001
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe) rs1464125081 0.00001
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro) rs1377981904 0.00001
NM_005592.4(MUSK):c.2156G>A (p.Arg719His) rs545173798 0.00001
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp) rs1370203787 0.00001
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln) rs758118087 0.00001
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr) rs752514384 0.00001
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys) rs750833487 0.00001
NM_005592.4(MUSK):c.2333G>A (p.Arg778His) rs751712655 0.00001
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln) rs776815006 0.00001
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp) rs34614566 0.00001
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys) rs376837791 0.00001
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala) rs1644805907 0.00001
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp) rs1455145377 0.00001
NM_005592.4(MUSK):c.2507G>A (p.Arg836His) rs371689428 0.00001
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe) rs748071334 0.00001
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys) rs1588054854 0.00001
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala) rs779710805 0.00001
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln) rs201134491 0.00001
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe) rs760781844 0.00001
NM_005592.4(MUSK):c.315G>A (p.Val105=) rs751133130 0.00001
NM_005592.4(MUSK):c.359-2dup rs1185775471 0.00001
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala) rs1210600769 0.00001
NM_005592.4(MUSK):c.43C>A (p.Leu15Met) rs746254848 0.00001
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys) rs1476034971 0.00001
NM_005592.4(MUSK):c.467A>T (p.Lys156Met) rs1048310820 0.00001
NM_005592.4(MUSK):c.486+6T>G rs763532251 0.00001
NM_005592.4(MUSK):c.538G>A (p.Val180Ile) rs1468498564 0.00001
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) rs373304727 0.00001
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg) rs758427621 0.00001
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile) rs561525761 0.00001
NM_005592.4(MUSK):c.635C>T (p.Ala212Val) rs756953369 0.00001
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg) rs376911820 0.00001
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile) rs1170201682 0.00001
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg) rs1372004765 0.00001
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala) rs1187474550 0.00001
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln) rs193019632 0.00001
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg) rs752641780 0.00001
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys) rs1416891382 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.1096A>G (p.Thr366Ala) rs556239795 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.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly) rs1027188166 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.1355G>A (p.Arg452Gln) rs777057956 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.1411C>T (p.Pro471Ser) rs764872565 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 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.1478C>T (p.Pro493Leu) rs773679215 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.328G>A (p.Glu110Lys) rs1024410823 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.412C>A (p.Leu138Ile) rs747942116 0.00001
NM_173660.5(DOK7):c.415G>A (p.Val139Ile) rs571769859 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.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln) rs1726073976 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.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.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.766A>G (p.Ser256Gly) rs750004938 0.00001
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile) rs767303929 0.00001
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) rs898373845 0.00001
NC_000004.11:g.(?_3465093)_(3495238_?)dup
NC_000004.11:g.(?_3465103)_(3465298_?)dup
NC_000004.11:g.(?_3465103)_(3495228_?)dup
NC_000004.11:g.(?_3488757)_(3495159_?)del
NC_000004.11:g.(?_3494787)_3495019dup
NC_000009.11:g.(?_113006437)_(113563268_?)dup
NC_000009.11:g.(?_113431185)_(113459766_?)dup
NC_000011.9:g.(?_47431646)_(47470726_?)dup
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln) rs1595896567
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys) rs1197895855
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.173G>A (p.Arg58His) rs373437117
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.192+5G>T
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn) rs150051760
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) rs1198989939
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val) rs1007398586
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr) rs2153311318
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg) rs777801296
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro) rs2153311254
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) rs1198813718
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg) rs1219888816
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly) rs121909257
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro) rs1217675127
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met) rs755310896
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu) rs143668632
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg) rs1294627986
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg) rs2076338568
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr) rs2077509392
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp) rs764142979
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly) rs201014623
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro) rs1038479586
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile) rs2131956652
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr) rs930182416
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys) rs368044285
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp) rs2131656584
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
NM_005592.4(MUSK):c.1384+5G>A rs536529195
NM_005592.4(MUSK):c.13G>A (p.Val5Ile) rs765874906
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile) rs2132023110
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr) rs886043719
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val) rs1554755295
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del) rs774582687
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg) rs928134595
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg) rs369745938
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val) rs2077843836
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro) rs779231840
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg) rs2077898016
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser) rs2077898173
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser) rs565780053
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu) rs758777089
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile) rs766640370
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp) rs181652070
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr) rs755642035
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val) rs1292312575
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser) rs1161007370
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu) rs2132065378
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn) rs2076206381
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
NM_005592.4(MUSK):c.2125G>A (p.Val709Met) rs2132066572
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly) rs758510906
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys) rs769211968
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile) rs750101214
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys) rs770373727
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn) rs781506865
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn) rs2078078707
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del) rs1588054209
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys) rs2132067786
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn) rs2132067949
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys) rs533353279
NM_005592.4(MUSK):c.2423A>G (p.His808Arg) rs2078084308
NM_005592.4(MUSK):c.243G>T (p.Gly81=) rs1587897093
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp) rs2078084758
NM_005592.4(MUSK):c.2443G>A (p.Val815Met) rs551520537
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
NM_005592.4(MUSK):c.2485G>A (p.Val829Met) rs578430
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro) rs2078086619
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys) rs1011593420
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala) rs2131669584
NM_005592.4(MUSK):c.259C>G (p.Leu87Val) rs1198739112
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
NM_005592.4(MUSK):c.348A>C (p.Gln116His) rs2131670048
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn) rs1318631379
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr) rs760483928
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
NM_005592.4(MUSK):c.374G>A (p.Arg125His) rs375737188
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg) rs2076418979
NM_005592.4(MUSK):c.433A>G (p.Met145Val) rs748144400
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg) rs1587917824
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu) rs1308383168
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe) rs1349731741
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
NM_005592.4(MUSK):c.509T>A (p.Leu170His) rs1464415453
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr) rs1554738557
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn) rs1207568075
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg) rs768273510
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu) rs188464904
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile) rs55826142
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser) rs1564253296
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp) rs2077002366
NM_005592.4(MUSK):c.753+5G>A rs2077002564
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup) rs1287375718
NM_005592.4(MUSK):c.762T>A (p.Ser254=) rs2077190189
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr) rs2077193041
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn) rs1554749322
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile) rs1554749322
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly) rs1319203200
NM_005592.4(MUSK):c.920+5G>C
NM_005592.4(MUSK):c.935A>T (p.Asp312Val) rs1362784498
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn) rs2131955443
NM_005592.4(MUSK):c.946T>C (p.Tyr316His) rs757775674
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg) rs1449532775
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala) rs2131955587
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) rs1467473001
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn) rs2109418165
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala) rs1728608485
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
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.1037C>G (p.Ser346Cys) rs568530359
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.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.1074_1306dup (p.Gly436fs) rs1560232833
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.1109G>C (p.Gly370Ala) rs1728624628
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.1145A>C (p.Glu382Ala) rs1728631866
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn) rs1728632467
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro) rs1728632885
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) 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.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.1228A>C (p.Ser410Arg) rs547633164
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg) rs2109420373
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.1262C>T (p.Pro421Leu)
NM_173660.5(DOK7):c.1269G>A (p.Gln423=) rs1247286969
NM_173660.5(DOK7):c.1272C>T (p.Gly424=) rs1728651445
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg) rs377555406
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
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.1313C>T (p.Thr438Met) rs376805794
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.1327C>T (p.Pro443Ser) rs748946433
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1363G>A (p.Val455Met) rs765823074
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.1387G>C (p.Glu463Gln) rs745941308
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) rs1577148448
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.1433G>A (p.Gly478Asp) rs2109422552
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg) rs140519765
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
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.1459G>A (p.Ala487Thr) rs751342277
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro) rs751342277
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp) rs768805841
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>T (p.Lys499Asn) rs1560234858
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile) rs1041024260
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser) rs779975668
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr) rs1560234920
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) rs1553850437
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu) rs201818140
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys) rs550137245
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
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.241G>C (p.Val81Leu) rs763046127
NM_173660.5(DOK7):c.264G>T (p.Met88Ile) rs1244768842
NM_173660.5(DOK7):c.289A>G (p.Met97Val) rs2109336403
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser) rs1726898976
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
NM_173660.5(DOK7):c.331+4_331+5del rs2109336551
NM_173660.5(DOK7):c.332-18T>A
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr) rs951094929
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
NM_173660.5(DOK7):c.394C>A (p.His132Asn) rs755692930
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
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.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.487G>A (p.Val163Met) rs746946329
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly) rs1470827824
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
NM_173660.5(DOK7):c.532+4A>C
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+34C>T rs751188494
NM_173660.5(DOK7):c.55-12_55-11del
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
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.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) rs149940009
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) rs1240579533
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
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.652+4C>T rs374675986
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
NM_173660.5(DOK7):c.653-3C>T rs767745850
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu) rs1728055459
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
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.673T>G (p.Ser225Ala)
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.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
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.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
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.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.773-1G>A rs1268475752
NM_173660.5(DOK7):c.773-2A>C rs1229979805
NM_173660.5(DOK7):c.773-2A>T rs1229979805
NM_173660.5(DOK7):c.773-8_797del
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys) rs763233743
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
NM_173660.5(DOK7):c.814C>T (p.His272Tyr) rs1226413438
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) rs1372127333
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.85C>G (p.Pro29Ala)
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.875C>T (p.Ala292Val) rs761676338
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) rs151079259
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
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.893G>A (p.Gly298Glu) rs1553850025
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser) rs1313698372
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
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>C (p.Glu329Asp)
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)

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