ClinVar Miner

List of variants studied for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 889
Download table as spreadsheet
HGVS dbSNP
EFNB1, EX2-5DEL
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
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.1759A>C (p.Thr587Pro) rs397514467
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe)
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala) rs387906744
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp) rs397514469
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr) rs587777188
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724
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.568T>G (p.Ser190Ala) rs397514466
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr) rs397514464
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser) rs397514465
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys) rs397514465
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu) rs397514468
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.911C>T (p.Ala304Val) rs397515433
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.1036C>T (p.Arg346Trp) rs201947120
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.56G>A (p.Gly19Glu) rs267606765
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.595C>T (p.Arg199Cys) rs267606769
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) rs267606767
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) rs267606767
NM_001361.5(DHODH):c.606C>T (p.Gly202=)
NM_001361.5(DHODH):c.611del (p.Leu204fs) rs1215488320
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.730C>T (p.Arg244Trp) rs267606768
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_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1149+1G>C rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) rs797045551
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) rs1555565774
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) rs879253725
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) rs1135401812
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) rs387906879
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) rs1555564341
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) rs1567728359
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) rs879253726
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) rs879253727
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) rs387906878
NM_004247.4(EFTUD2):c.2823+1del rs879253728
NM_004247.4(EFTUD2):c.426+8G>A rs2289677
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) rs397515431
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004247.4(EFTUD2):c.882del (p.Asp295fs) rs1597807512
NM_004247.4(EFTUD2):c.994+6C>T rs11654183
NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) rs104894802
NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) rs104894803
NM_004429.4(EFNB1):c.128+2T>A rs1556096780
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) rs1057519032
NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) rs104894796
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) rs1057519033
NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) rs28936070
NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) rs1057519034
NM_004429.4(EFNB1):c.472A>G (p.Met158Val) rs28936071
NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) rs28935170
NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) rs587777109
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004429.4(EFNB1):c.499+2_499+7del rs1602671282
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) rs1556107925
NM_004429.4(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) rs16989105
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)
NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs)
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.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1148dup (p.His383fs) rs797045124
NM_005850.5(SF3B4):c.1199del (p.Pro400fs) rs797045123
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.1232del (p.Pro411fs) rs797045122
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) rs797045121
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter) rs797045133
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.625C>T (p.Gln209Ter) rs797045132
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs) rs797045131
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.731_743del (p.Pro244fs) rs797045957
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235
NM_005850.5(SF3B4):c.769del (p.Ile257fs) rs797045130
NM_005850.5(SF3B4):c.796dup (p.Met266fs) rs797045129
NM_005850.5(SF3B4):c.827dup (p.Ser277fs) rs797045128
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs) rs797045127
NM_005850.5(SF3B4):c.864del (p.His288fs) rs797045126
NM_005850.5(SF3B4):c.88del (p.Trp30fs) rs797045134
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_005850.5(SF3B4):c.978C>A (p.Pro326=) rs58383987
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) rs794729674
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) rs875989814
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met) rs140760439
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.1005+3G>A rs141371552
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129
NM_147127.5(EVC2):c.1146-5C>G rs746188195
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.1470+3A>T rs370769794
NM_147127.5(EVC2):c.1471-6C>T rs115466792
NM_147127.5(EVC2):c.1471-7T>C rs150842594
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.5(EVC2):c.1886+7C>G rs376738238
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2047-9A>T rs73198154
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.229-4T>G rs375534154
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3272+7C>T rs201048030
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.3273-2del
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3361-2A>G
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501
NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3] (p.Gln1154fs)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3558-6C>T rs527866261
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.3660-10A>G rs371900491
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.707-4G>A rs113806963
NM_147127.5(EVC2):c.707-5C>T rs781300676
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_147127.5(EVC2):c.824_825CA[1] (p.Gln276fs)
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796
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.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432
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.1101C>T (p.Asp367=) rs186537549
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.1128G>A (p.Ala376=) rs111234281
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
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.1350G>A (p.Ala450=) rs752575646
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.1448C>T (p.Pro483Leu) rs376440801
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.1464+5C>T rs369734950
NM_153717.3(EVC):c.1464+8A>G rs116236414
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
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.1536C>T (p.Ala512=) rs368554773
NM_153717.3(EVC):c.155del (p.Arg52fs)
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1564-7G>A rs201739032
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
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.174+7C>T rs1577297959
NM_153717.3(EVC):c.175-10C>T rs113406354
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1777-8G>A rs760016211
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871
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.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
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.1886+1G>C
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358
NM_153717.3(EVC):c.2098-10T>C rs774109576
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588
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.2298C>T (p.Asp766=) rs140546984
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
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.2376G>A (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>T rs758387379
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.2550G>A (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2562-2A>G rs1293098417
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
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.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
NM_153717.3(EVC):c.2782+9C>T rs768005359
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233
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.2894+3A>G rs1424976594
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-4T>C rs775049818
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
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.462G>A (p.Glu154=) rs1019139111
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.510C>T (p.Asp170=) rs757930422
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.617+1G>A
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095
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.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
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.939+9C>T rs201282320
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.1003C>T (p.Arg335Cys) rs1555815121
NM_212472.2(PRKAR1A):c.1004G>C (p.Arg335Pro) rs387906694
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_212472.2(PRKAR1A):c.1117T>C (p.Tyr373His) rs387906693
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.620A>G (p.Tyr207Cys) rs1600486197
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
NM_212472.2(PRKAR1A):c.980T>C (p.Ile327Thr) rs387906695
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.