ClinVar Miner

List of variants studied for acrofacial dysostosis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 458
Download table as spreadsheet
HGVS dbSNP
NM_001104631.2(PDE4D):c.*1034C>T rs886060710
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
NM_001104631.2(PDE4D):c.*1268T>C rs886060709
NM_001104631.2(PDE4D):c.*1278C>T rs775984561
NM_001104631.2(PDE4D):c.*1295G>A
NM_001104631.2(PDE4D):c.*131T>C
NM_001104631.2(PDE4D):c.*1323A>T rs149834563
NM_001104631.2(PDE4D):c.*1361C>T rs187518449
NM_001104631.2(PDE4D):c.*1379A>G rs886060708
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1572A>G
NM_001104631.2(PDE4D):c.*1637C>T
NM_001104631.2(PDE4D):c.*1638G>A rs10075508
NM_001104631.2(PDE4D):c.*1649C>T rs530824932
NM_001104631.2(PDE4D):c.*1729G>C
NM_001104631.2(PDE4D):c.*1773A>G rs829260
NM_001104631.2(PDE4D):c.*1778T>C
NM_001104631.2(PDE4D):c.*1850T>C
NM_001104631.2(PDE4D):c.*1924T>C rs749539498
NM_001104631.2(PDE4D):c.*1938C>T rs10940636
NM_001104631.2(PDE4D):c.*2003T>C rs577458431
NM_001104631.2(PDE4D):c.*2004C>A rs760686759
NM_001104631.2(PDE4D):c.*2066T>C
NM_001104631.2(PDE4D):c.*2100C>T rs577109679
NM_001104631.2(PDE4D):c.*2185T>G
NM_001104631.2(PDE4D):c.*2198C>T
NM_001104631.2(PDE4D):c.*2225C>T
NM_001104631.2(PDE4D):c.*2279G>T rs12658211
NM_001104631.2(PDE4D):c.*2288A>G rs10036063
NM_001104631.2(PDE4D):c.*2329G>A rs74710642
NM_001104631.2(PDE4D):c.*2336T>G
NM_001104631.2(PDE4D):c.*2369G>A rs796829320
NM_001104631.2(PDE4D):c.*2383G>A rs185766952
NM_001104631.2(PDE4D):c.*2484T>C rs10035437
NM_001104631.2(PDE4D):c.*2510C>T
NM_001104631.2(PDE4D):c.*2515A>T rs829259
NM_001104631.2(PDE4D):c.*2604A>C
NM_001104631.2(PDE4D):c.*2653C>T rs13172038
NM_001104631.2(PDE4D):c.*2747G>A rs557226166
NM_001104631.2(PDE4D):c.*2768T>G rs702531
NM_001104631.2(PDE4D):c.*2841A>C
NM_001104631.2(PDE4D):c.*2934G>A rs702530
NM_001104631.2(PDE4D):c.*2999T>C rs200919800
NM_001104631.2(PDE4D):c.*3028A>G
NM_001104631.2(PDE4D):c.*310C>A
NM_001104631.2(PDE4D):c.*3210A>G
NM_001104631.2(PDE4D):c.*3214T>A rs188938118
NM_001104631.2(PDE4D):c.*3325T>C
NM_001104631.2(PDE4D):c.*3349T>A rs72764043
NM_001104631.2(PDE4D):c.*3418T>C
NM_001104631.2(PDE4D):c.*3492T>G
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3588A>C rs547764520
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*3863T>C
NM_001104631.2(PDE4D):c.*3875G>A rs886060704
NM_001104631.2(PDE4D):c.*3892G>A
NM_001104631.2(PDE4D):c.*4001C>G rs829258
NM_001104631.2(PDE4D):c.*4039G>T rs10071088
NM_001104631.2(PDE4D):c.*403G>A
NM_001104631.2(PDE4D):c.*414T>C
NM_001104631.2(PDE4D):c.*421A>G rs886060715
NM_001104631.2(PDE4D):c.*4398T>G rs74874819
NM_001104631.2(PDE4D):c.*4513C>T rs886060703
NM_001104631.2(PDE4D):c.*4524C>T
NM_001104631.2(PDE4D):c.*4529C>T
NM_001104631.2(PDE4D):c.*4622G>T rs532407753
NM_001104631.2(PDE4D):c.*4659T>G rs75820400
NM_001104631.2(PDE4D):c.*4660C>T rs79996648
NM_001104631.2(PDE4D):c.*466G>T
NM_001104631.2(PDE4D):c.*4675G>A rs536451907
NM_001104631.2(PDE4D):c.*4703A>G
NM_001104631.2(PDE4D):c.*4727C>G
NM_001104631.2(PDE4D):c.*4886A>C
NM_001104631.2(PDE4D):c.*4915C>T rs13160982
NM_001104631.2(PDE4D):c.*4965G>T rs11956001
NM_001104631.2(PDE4D):c.*4981C>G
NM_001104631.2(PDE4D):c.*5000A>G rs886060702
NM_001104631.2(PDE4D):c.*5118T>G rs11959349
NM_001104631.2(PDE4D):c.*5125C>T rs829257
NM_001104631.2(PDE4D):c.*5201G>A
NM_001104631.2(PDE4D):c.*5241T>C rs11950495
NM_001104631.2(PDE4D):c.*5260T>C rs11950492
NM_001104631.2(PDE4D):c.*5283A>G rs866638632
NM_001104631.2(PDE4D):c.*5295G>T rs143961299
NM_001104631.2(PDE4D):c.*5304C>T
NM_001104631.2(PDE4D):c.*535A>G
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.*58G>A
NM_001104631.2(PDE4D):c.*649T>G rs886060713
NM_001104631.2(PDE4D):c.*780G>C rs886060712
NM_001104631.2(PDE4D):c.*831A>C rs369129936
NM_001104631.2(PDE4D):c.-55C>T rs886060716
NM_001104631.2(PDE4D):c.-58G>T
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=)
NM_001104631.2(PDE4D):c.1053G>A (p.Gln351=) rs370618257
NM_001104631.2(PDE4D):c.1188+15A>G
NM_001104631.2(PDE4D):c.1189-4C>G
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)
NM_001104631.2(PDE4D):c.1287+6G>A rs1553114
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)
NM_001104631.2(PDE4D):c.1452+8T>C rs78773396
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990
NM_001104631.2(PDE4D):c.1552+7A>G rs768894375
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser)
NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=) rs115807337
NM_001104631.2(PDE4D):c.1707+12A>C
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe)
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=)
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly)
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp)
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu)
NM_001104631.2(PDE4D):c.2401G>A (p.Val801Ile)
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257
NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=) rs7736186
NM_001104631.2(PDE4D):c.339G>A (p.Glu113=) rs370095823
NM_001104631.2(PDE4D):c.456-12C>T rs114278541
NM_001104631.2(PDE4D):c.705T>C (p.Thr235=) rs199590419
NM_001104631.2(PDE4D):c.758+11C>A
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)
NM_001104631.2(PDE4D):c.891G>A (p.Arg297=) rs369034280
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=)
NM_001276290.1(PRKAR1A):c.973+3439G>T
NM_001361.4(DHODH):c.-29A>G rs34270657
NM_001361.5(DHODH):c.*1014C>T rs79926352
NM_001361.5(DHODH):c.*1035_*1038del rs886052283
NM_001361.5(DHODH):c.*1051A>G rs2287999
NM_001361.5(DHODH):c.*1088T>C rs567852382
NM_001361.5(DHODH):c.*1171T>C rs2287998
NM_001361.5(DHODH):c.*1174T>G rs148338434
NM_001361.5(DHODH):c.*139C>T rs140263128
NM_001361.5(DHODH):c.*144G>A
NM_001361.5(DHODH):c.*14C>T rs370049658
NM_001361.5(DHODH):c.*189C>T rs750442401
NM_001361.5(DHODH):c.*216G>A
NM_001361.5(DHODH):c.*252C>T rs147792232
NM_001361.5(DHODH):c.*341C>T
NM_001361.5(DHODH):c.*349A>C
NM_001361.5(DHODH):c.*372C>T
NM_001361.5(DHODH):c.*383G>A
NM_001361.5(DHODH):c.*404G>A rs150155845
NM_001361.5(DHODH):c.*500G>A rs886052281
NM_001361.5(DHODH):c.*569G>A rs113365769
NM_001361.5(DHODH):c.*574G>T rs2288001
NM_001361.5(DHODH):c.*595C>T rs111810095
NM_001361.5(DHODH):c.*612T>C rs7191724
NM_001361.5(DHODH):c.*645T>C
NM_001361.5(DHODH):c.*64C>G rs886052280
NM_001361.5(DHODH):c.*748C>T rs117655998
NM_001361.5(DHODH):c.*783A>G rs2288000
NM_001361.5(DHODH):c.*795C>T
NM_001361.5(DHODH):c.*819A>G rs886052282
NM_001361.5(DHODH):c.*841G>A rs764720601
NM_001361.5(DHODH):c.*868A>G
NM_001361.5(DHODH):c.*936T>C
NM_001361.5(DHODH):c.*980A>G rs766237954
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) rs376142632
NM_001361.5(DHODH):c.1020C>T (p.Asp340=) rs199666119
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala)
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala)
NM_001361.5(DHODH):c.14A>G (p.His5Arg)
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) rs368395651
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422
NM_001361.5(DHODH):c.22-11C>T rs770515591
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile) rs61741731
NM_001361.5(DHODH):c.492G>T (p.Gln164His) rs768224976
NM_001361.5(DHODH):c.498G>A (p.Lys166=)
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln)
NM_001361.5(DHODH):c.517+8G>A rs758925798
NM_001361.5(DHODH):c.518-11G>A
NM_001361.5(DHODH):c.546G>T (p.Gly182=)
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373
NM_001361.5(DHODH):c.573G>A (p.Ala191=) rs148523165
NM_001361.5(DHODH):c.606C>T (p.Gly202=)
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) rs369556950
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) rs528598713
NM_001361.5(DHODH):c.681C>T (p.Ala227=) rs776932166
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu)
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214
NM_001361.5(DHODH):c.804C>T (p.Ala268=) rs374538940
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) rs886052277
NM_001361.5(DHODH):c.819+10G>A rs114267707
NM_001361.5(DHODH):c.820T>C (p.Leu274=) rs886052278
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) rs199626701
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) rs369181023
NM_001361.5(DHODH):c.890G>A (p.Arg297His) rs200181357
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) rs886052279
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) rs886052279
NM_001361.5(DHODH):c.973+11C>T
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)
NM_002734.5(PRKAR1A):c.*1003C>T
NM_002734.5(PRKAR1A):c.*1057G>A
NM_002734.5(PRKAR1A):c.*1085G>A
NM_002734.5(PRKAR1A):c.*1111C>G
NM_002734.5(PRKAR1A):c.*1640C>T
NM_002734.5(PRKAR1A):c.*1687T>C
NM_002734.5(PRKAR1A):c.*1838A>T
NM_002734.5(PRKAR1A):c.*1949G>T
NM_002734.5(PRKAR1A):c.*2089A>G
NM_002734.5(PRKAR1A):c.*2114G>A
NM_002734.5(PRKAR1A):c.*2152T>C
NM_002734.5(PRKAR1A):c.*2212C>T
NM_002734.5(PRKAR1A):c.*233C>T
NM_002734.5(PRKAR1A):c.*2844A>C
NM_002734.5(PRKAR1A):c.*2940G>A
NM_002734.5(PRKAR1A):c.*299T>G
NM_002734.5(PRKAR1A):c.*331G>A
NM_002734.5(PRKAR1A):c.*384C>T
NM_002734.5(PRKAR1A):c.*535T>G
NM_002734.5(PRKAR1A):c.*560G>A
NM_002734.5(PRKAR1A):c.*609C>G
NM_002734.5(PRKAR1A):c.*812A>G
NM_002734.5(PRKAR1A):c.-11C>T
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)
NM_002734.5(PRKAR1A):c.770-8T>G
NM_005850.4(SF3B4):c.-116C>T rs60631776
NM_005850.4(SF3B4):c.-234T>C rs72692813
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.4(SF3B4):c.-297C>T rs17643644
NM_005850.4(SF3B4):c.-78T>C rs373005050
NM_005850.5(SF3B4):c.-1C>T rs587718470
NM_005850.5(SF3B4):c.-25G>A rs199754113
NM_005850.5(SF3B4):c.-32C>T rs587675943
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.519C>T (p.Thr173=) rs143105666
NM_005850.5(SF3B4):c.543C>T (p.Asp181=) rs41265150
NM_005850.5(SF3B4):c.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.682T>C (p.Leu228=) rs115070660
NM_005850.5(SF3B4):c.707-8C>A rs371485646
NM_005850.5(SF3B4):c.707-8C>T rs371485646
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235
NM_005850.5(SF3B4):c.978C>A (p.Pro326=) rs58383987
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1060A>C rs71599848
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1083T>G rs71599850
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1218C>T rs12501119
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1318G>C rs67547790
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1375A>G rs114994758
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*14G>A rs2291151
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*1849C>G rs75438311
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2009T>C rs79152885
NM_153717.3(EVC):c.*210C>A rs16837692
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2268G>A rs4261923
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2417T>C rs6848370
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2617G>A rs3733186
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*2680G>A rs3733187
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*2713C>T rs3733188
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2871C>T rs3733189
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3165T>C rs3755847
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*53T>C rs7676531
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*748T>C rs62297707
NM_153717.3(EVC):c.*820C>T rs137860758
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.*908G>A rs13119698
NM_153717.3(EVC):c.*922G>A rs71599840
NM_153717.3(EVC):c.*931T>C rs6840435
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2449+12C>G rs751678723
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.939+10A>G rs2286342
NM_153717.3(EVC):c.939+11G>T rs55955937
NM_153717.3(EVC):c.939+4C>T rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_212472.2(PRKAR1A):c.*1014A>G rs886053311
NM_212472.2(PRKAR1A):c.*1062A>G rs752303671
NM_212472.2(PRKAR1A):c.*1168A>T rs886053313
NM_212472.2(PRKAR1A):c.*1346A>G rs545417998
NM_212472.2(PRKAR1A):c.*1487C>T rs886053314
NM_212472.2(PRKAR1A):c.*156C>T rs535007635
NM_212472.2(PRKAR1A):c.*1606A>G rs144632545
NM_212472.2(PRKAR1A):c.*1839G>A rs886053316
NM_212472.2(PRKAR1A):c.*1842A>T rs886053317
NM_212472.2(PRKAR1A):c.*2018C>T rs540185706
NM_212472.2(PRKAR1A):c.*2067T>C rs886053318
NM_212472.2(PRKAR1A):c.*2072G>A rs886053319
NM_212472.2(PRKAR1A):c.*2196C>T rs886053320
NM_212472.2(PRKAR1A):c.*2197G>A rs533508012
NM_212472.2(PRKAR1A):c.*389T>G rs886053307
NM_212472.2(PRKAR1A):c.*526G>A rs886053308
NM_212472.2(PRKAR1A):c.*672T>C rs546125048
NM_212472.2(PRKAR1A):c.*704T>G rs886053310
NM_212472.2(PRKAR1A):c.*722A>G rs555951287
NM_212472.2(PRKAR1A):c.*724T>A rs746409603
NM_212472.2(PRKAR1A):c.*795G>T rs150031305
NM_212472.2(PRKAR1A):c.*812A>C rs116996069
NM_212472.2(PRKAR1A):c.*893G>C rs186568426
NM_212472.2(PRKAR1A):c.-106G>T rs559757120
NM_212472.2(PRKAR1A):c.-200T>A
NM_212472.2(PRKAR1A):c.-47C>A rs886053305
NM_212472.2(PRKAR1A):c.-56C>T rs546338099
NM_212472.2(PRKAR1A):c.-6-7C>T rs373646911
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_212472.2(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_212472.2(PRKAR1A):c.440+15T>C rs78183210
NM_212472.2(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_212472.2(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_212472.2(PRKAR1A):c.762T>C (p.Ser254=) rs753621663
NM_212472.2(PRKAR1A):c.770-9G>T rs562094333

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