ClinVar Miner

List of variants in gene MAP2K1

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Gene type:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.439-67C>T rs6494573 0.83820
NM_002755.4(MAP2K1):c.517-253C>T rs6494574 0.30025
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27222
NM_002755.4(MAP2K1):c.292-133A>C rs11637556 0.21057
NM_002755.4(MAP2K1):c.569-118G>A rs41277720 0.17542
NM_002755.4(MAP2K1):c.516+191G>A rs17201019 0.14207
NM_002755.4(MAP2K1):c.291+199C>T rs66975215 0.12011
NM_002755.4(MAP2K1):c.960+68C>T rs41315964 0.09424
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_002755.4(MAP2K1):c.517-311C>A rs112381615 0.07480
NM_002755.4(MAP2K1):c.896-291G>C rs36047146 0.05688
NM_002755.4(MAP2K1):c.961-254_961-251del rs34067330 0.05667
NM_002755.3(MAP2K1):c.-547C>T rs77540803 0.02251
NM_002755.4(MAP2K1):c.693+275T>A rs75586043 0.01746
NM_002755.4(MAP2K1):c.895+181A>G rs77824107 0.01717
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_002755.4(MAP2K1):c.438+192C>T rs16949944 0.01566
NM_002755.4(MAP2K1):c.80+33C>G rs56149436 0.01549
NM_002755.4(MAP2K1):c.517-139G>T rs138624109 0.01336
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_002755.4(MAP2K1):c.516+283G>A rs192620467 0.00877
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002755.4(MAP2K1):c.693+234C>A rs142760272 0.00738
NM_002755.4(MAP2K1):c.517-230A>C rs141721809 0.00672
NM_002755.4(MAP2K1):c.439-168G>A rs187650018 0.00463
NM_002755.4(MAP2K1):c.1023-201del rs149355772 0.00405
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_002755.4(MAP2K1):c.568+198C>T rs116786504 0.00354
NM_002755.4(MAP2K1):c.896-283G>A rs189306997 0.00344
NM_002755.4(MAP2K1):c.516+176A>G rs148929309 0.00322
NM_002755.4(MAP2K1):c.960+297A>G rs565603514 0.00299
NM_002755.4(MAP2K1):c.1023-43C>T rs146169356 0.00221
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_002755.4(MAP2K1):c.80+28G>C rs374238278 0.00118
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_002755.4(MAP2K1):c.516+28A>G rs184208600 0.00050
NM_002755.4(MAP2K1):c.693+50G>C rs58205072 0.00043
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002755.4(MAP2K1):c.895+42G>A rs200724966 0.00021
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) rs373745627 0.00013
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) rs138466751 0.00011
NM_002755.4(MAP2K1):c.439-19C>A rs766207567 0.00010
NM_002755.4(MAP2K1):c.292-3C>T rs55694358 0.00007
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=) rs7494832 0.00006
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002755.4(MAP2K1):c.396G>A (p.Ala132=) rs139364105 0.00006
NM_002755.4(MAP2K1):c.569-19T>A rs371099866 0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413 0.00006
NM_002755.4(MAP2K1):c.729G>A (p.Gln243=) rs772752167 0.00005
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=) rs143019052 0.00005
NM_002755.4(MAP2K1):c.1038C>T (p.Pro346=) rs547178339 0.00004
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=) rs56200325 0.00004
NM_002755.4(MAP2K1):c.291+20C>T rs756056132 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_002755.4(MAP2K1):c.81-20T>G rs373883835 0.00004
NM_002755.4(MAP2K1):c.1022+12C>T rs753580791 0.00003
NM_002755.4(MAP2K1):c.1023-20C>T rs200542677 0.00003
NM_002755.4(MAP2K1):c.1034A>G (p.Asn345Ser) rs760766158 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002755.4(MAP2K1):c.177G>A (p.Lys59=) rs773928828 0.00003
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=) rs377323150 0.00003
NM_002755.4(MAP2K1):c.569-13C>T rs770040428 0.00003
NM_002755.4(MAP2K1):c.569-18A>G rs886539818 0.00003
NM_002755.4(MAP2K1):c.693+10G>A rs377034924 0.00003
NM_002755.4(MAP2K1):c.771G>A (p.Ala257=) rs767965126 0.00003
NM_002755.4(MAP2K1):c.80+9G>A rs1219385230 0.00003
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile) rs397516794 0.00003
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg) rs773890369 0.00003
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_002755.4(MAP2K1):c.12G>A (p.Lys4=) rs1489477346 0.00002
NM_002755.4(MAP2K1):c.147C>A (p.Arg49=) rs756073029 0.00002
NM_002755.4(MAP2K1):c.279C>T (p.Val93=) rs140387057 0.00002
NM_002755.4(MAP2K1):c.378C>T (p.Ile126=) rs369401783 0.00002
NM_002755.4(MAP2K1):c.411C>T (p.Gly137=) rs146415623 0.00002
NM_002755.4(MAP2K1):c.517-4C>T rs200197244 0.00002
NM_002755.4(MAP2K1):c.568+11A>T rs769848510 0.00002
NM_002755.4(MAP2K1):c.900C>T (p.Tyr300=) rs147333830 0.00002
NM_002755.4(MAP2K1):c.1022+10C>T rs397516787 0.00001
NM_002755.4(MAP2K1):c.1022+16G>A rs757073344 0.00001
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996 0.00001
NM_002755.4(MAP2K1):c.11A>G (p.Lys4Arg) rs761150136 0.00001
NM_002755.4(MAP2K1):c.234T>C (p.Asn78=) rs1326124619 0.00001
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.255C>T (p.Val85=) rs1052147663 0.00001
NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg) rs762354445 0.00001
NM_002755.4(MAP2K1):c.292-8T>A rs966429123 0.00001
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161 0.00001
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=) rs990673168 0.00001
NM_002755.4(MAP2K1):c.372G>A (p.Pro124=) rs750270430 0.00001
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) rs876657503 0.00001
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=) rs767989355 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002755.4(MAP2K1):c.439-14A>G rs754725417 0.00001
NM_002755.4(MAP2K1):c.439-18T>C rs751155864 0.00001
NM_002755.4(MAP2K1):c.439-7A>T rs964442363 0.00001
NM_002755.4(MAP2K1):c.492A>G (p.Gln164=) rs140822439 0.00001
NM_002755.4(MAP2K1):c.549G>A (p.Lys183=) rs747352922 0.00001
NM_002755.4(MAP2K1):c.565A>C (p.Arg189=) rs776763061 0.00001
NM_002755.4(MAP2K1):c.568+9T>C rs748379069 0.00001
NM_002755.4(MAP2K1):c.585C>T (p.Asn195=) rs1437805160 0.00001
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile) rs727505206 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002755.4(MAP2K1):c.693+4T>G rs184151283 0.00001
NM_002755.4(MAP2K1):c.694-20del rs1404899700 0.00001
NM_002755.4(MAP2K1):c.694-9C>T rs768336682 0.00001
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr) rs1290055913 0.00001
NM_002755.4(MAP2K1):c.76G>A (p.Ala26Thr) rs1228037386 0.00001
NM_002755.4(MAP2K1):c.772G>A (p.Val258Ile) rs753236280 0.00001
NM_002755.4(MAP2K1):c.792T>G (p.Pro264=) rs764379969 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002755.4(MAP2K1):c.810G>A (p.Glu270=) rs745891583 0.00001
NM_002755.4(MAP2K1):c.834G>A (p.Gln278=) rs148151221 0.00001
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884 0.00001
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=) rs370521459 0.00001
NM_002755.4(MAP2K1):c.896-7T>C rs772786705 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=) rs773755873 0.00001
NC_000015.10:g.(?_66387328)_(66444727_?)dup
NC_000015.10:g.66386730G>A
NC_000015.10:g.66386775C>T
NC_000015.9:g.(?_66679686)_(66679785_?)dup
NM_002755.4(MAP2K1):c.1003C>T (p.Gln335Ter)
NM_002755.4(MAP2K1):c.1004A>G (p.Gln335Arg) rs2140683019
NM_002755.4(MAP2K1):c.1008T>G (p.Asp336Glu)
NM_002755.4(MAP2K1):c.1022+6T>G
NM_002755.4(MAP2K1):c.1023-11_1023-4del
NM_002755.4(MAP2K1):c.1023-17G>C rs759861076
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.1023-4T>G rs1462240441
NM_002755.4(MAP2K1):c.1024T>G (p.Leu342Val)
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln)
NM_002755.4(MAP2K1):c.1031_1034del (p.Lys344fs)
NM_002755.4(MAP2K1):c.1035C>T (p.Asn345=)
NM_002755.4(MAP2K1):c.1045A>C (p.Arg349=) rs1595888749
NM_002755.4(MAP2K1):c.1047A>C (p.Arg349Ser) rs1177367316
NM_002755.4(MAP2K1):c.108G>A (p.Lys36=) rs1269147448
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg)
NM_002755.4(MAP2K1):c.126TGA[1] (p.Asp43del) rs1555416037
NM_002755.4(MAP2K1):c.130_162del (p.Glu44_Leu54del) rs2140578690
NM_002755.4(MAP2K1):c.135G>T (p.Gln45His) rs2093484116
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.138del (p.Gln46fs)
NM_002755.4(MAP2K1):c.139C>A (p.Arg47=)
NM_002755.4(MAP2K1):c.139C>T (p.Arg47Ter)
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) rs1567009054
NM_002755.4(MAP2K1):c.146G>A (p.Arg49His)
NM_002755.4(MAP2K1):c.149T>C (p.Leu50Pro) rs2140578834
NM_002755.4(MAP2K1):c.153G>A (p.Glu51=)
NM_002755.4(MAP2K1):c.156C>G (p.Ala52=) rs147489724
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile) rs1057519728
NM_002755.4(MAP2K1):c.157T>C (p.Phe53Leu) rs1057519728
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val) rs1057519728
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) rs1057519908
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=) rs2140511623
NM_002755.4(MAP2K1):c.15G>T (p.Lys5Asn)
NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro) rs2140578916
NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del)
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.169A>G (p.Lys57Glu) rs397516790
NM_002755.4(MAP2K1):c.170A>C (p.Lys57Thr) rs1057519909
NM_002755.4(MAP2K1):c.170A>T (p.Lys57Met)
NM_002755.4(MAP2K1):c.171G>C (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.173A>G (p.Gln58Arg)
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) rs2140579005
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) rs2093484335
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.179T>G (p.Val60Gly) rs730880501
NM_002755.4(MAP2K1):c.179_193del (p.Val60_Lys64del) rs1057518078
NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del) rs1057518080
NM_002755.4(MAP2K1):c.187C>T (p.Leu63=)
NM_002755.4(MAP2K1):c.198C>A (p.Asp66Glu) rs56200325
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.205G>A (p.Glu69Lys) rs2093484413
NM_002755.4(MAP2K1):c.212T>C (p.Ile71Thr) rs2140579455
NM_002755.4(MAP2K1):c.212T>G (p.Ile71Ser) rs2140579455
NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn)
NM_002755.4(MAP2K1):c.238G>A (p.Gly80Ser) rs2140579691
NM_002755.4(MAP2K1):c.239G>A (p.Gly80Asp)
NM_002755.4(MAP2K1):c.247T>C (p.Phe83Leu)
NM_002755.4(MAP2K1):c.255C>A (p.Val85=) rs1052147663
NM_002755.4(MAP2K1):c.256T>A (p.Ser86Thr)
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) rs1265809314
NM_002755.4(MAP2K1):c.265C>T (p.Pro89Ser)
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
NM_002755.4(MAP2K1):c.288A>G (p.Arg96=) rs2140580028
NM_002755.4(MAP2K1):c.291+127_291+129dup rs71139499
NM_002755.4(MAP2K1):c.291+128_291+129dup rs71139499
NM_002755.4(MAP2K1):c.291+14G>T rs1217523374
NM_002755.4(MAP2K1):c.291+14_291+15inv
NM_002755.4(MAP2K1):c.291+14_291+16del
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.291+15A>C rs1337930990
NM_002755.4(MAP2K1):c.291+17T>C rs1294983448
NM_002755.4(MAP2K1):c.291+18A>T rs577549188
NM_002755.4(MAP2K1):c.291+19A>C rs752759395
NM_002755.4(MAP2K1):c.291+9G>T
NM_002755.4(MAP2K1):c.292-13del
NM_002755.4(MAP2K1):c.292-18T>C
NM_002755.4(MAP2K1):c.292-20T>C
NM_002755.4(MAP2K1):c.292-4C>G rs771407622
NM_002755.4(MAP2K1):c.296T>C (p.Ile99Thr) rs1057519819
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu) rs2093343985
NM_002755.4(MAP2K1):c.303_308del (p.Glu102_Ile103del) rs2140583355
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.305A>T (p.Glu102Val)
NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del)
NM_002755.4(MAP2K1):c.308T>A (p.Ile103Asn) rs730880502
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.308T>G (p.Ile103Ser) rs730880502
NM_002755.4(MAP2K1):c.319A>G (p.Ile107Val) rs1567009717
NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val)
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn) rs1057519730
NM_002755.4(MAP2K1):c.332T>G (p.Ile111Ser) rs1057519730
NM_002755.4(MAP2K1):c.333C>T (p.Ile111=)
NM_002755.4(MAP2K1):c.33G>A (p.Leu11=)
NM_002755.4(MAP2K1):c.342G>A (p.Glu114=) rs939141868
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val) rs1428775799
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.356A>C (p.His119Pro) rs1057519820
NM_002755.4(MAP2K1):c.360G>C (p.Glu120Asp) rs1057519821
NM_002755.4(MAP2K1):c.360G>T (p.Glu120Asp) rs1057519821
NM_002755.4(MAP2K1):c.361T>A (p.Cys121Ser) rs1057519856
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.365A>G (p.Asn122Ser)
NM_002755.4(MAP2K1):c.36C>T (p.Asn12=) rs2140511663
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>G (p.Pro124Arg) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) rs1595861880
NM_002755.4(MAP2K1):c.379G>A (p.Val127Met) rs1013906172
NM_002755.4(MAP2K1):c.37C>T (p.Pro13Ser)
NM_002755.4(MAP2K1):c.383G>A (p.Gly128Asp) rs121908596
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002755.4(MAP2K1):c.383del (p.Gly128fs)
NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) rs1057519805
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.396G>C (p.Ala132=)
NM_002755.4(MAP2K1):c.396G>T (p.Ala132=) rs139364105
NM_002755.4(MAP2K1):c.404G>A (p.Ser135Asn)
NM_002755.4(MAP2K1):c.411C>G (p.Gly137=)
NM_002755.4(MAP2K1):c.412G>A (p.Glu138Lys) rs730880504
NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val)
NM_002755.4(MAP2K1):c.420T>C (p.Ser140=) rs2140584315
NM_002755.4(MAP2K1):c.421A>G (p.Ile141Val) rs1189360966
NM_002755.4(MAP2K1):c.42C>G (p.Ala14=) rs2140511693
NM_002755.4(MAP2K1):c.435C>T (p.His145=) rs1369638918
NM_002755.4(MAP2K1):c.438+11_438+18del
NM_002755.4(MAP2K1):c.438+13C>T
NM_002755.4(MAP2K1):c.438+15C>T rs1170337728
NM_002755.4(MAP2K1):c.438+16_438+17del
NM_002755.4(MAP2K1):c.438+1_438+5del
NM_002755.4(MAP2K1):c.438+4T>A
NM_002755.4(MAP2K1):c.438+8A>T rs550240942
NM_002755.4(MAP2K1):c.438+9C>A
NM_002755.4(MAP2K1):c.438+9C>T
NM_002755.4(MAP2K1):c.439-8G>C
NM_002755.4(MAP2K1):c.439-8G>T rs747709090
NM_002755.4(MAP2K1):c.439-9C>T
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)
NM_002755.4(MAP2K1):c.43C>T (p.Pro15Ser) rs916502006
NM_002755.4(MAP2K1):c.451C>T (p.Leu151=)
NM_002755.4(MAP2K1):c.45C>T (p.Pro15=)
NM_002755.4(MAP2K1):c.45del (p.Asp16fs) rs1566991692
NM_002755.4(MAP2K1):c.460G>A (p.Val154Ile)
NM_002755.4(MAP2K1):c.481A>G (p.Ile161Val) rs2140598087
NM_002755.4(MAP2K1):c.482T>C (p.Ile161Thr) rs2140598095
NM_002755.4(MAP2K1):c.488A>G (p.Glu163Gly)
NM_002755.4(MAP2K1):c.48C>A (p.Asp16Glu) rs1330053912
NM_002755.4(MAP2K1):c.490C>A (p.Gln164Lys) rs1891772126
NM_002755.4(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.4(MAP2K1):c.509G>A (p.Ser170Asn)
NM_002755.4(MAP2K1):c.516+11del
NM_002755.4(MAP2K1):c.516+12A>T
NM_002755.4(MAP2K1):c.516+13T>C
NM_002755.4(MAP2K1):c.516+16A>G rs1001637882
NM_002755.4(MAP2K1):c.516+17G>A rs2140598431
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.516+230_516+231insAG rs72531931
NM_002755.4(MAP2K1):c.516+2T>C rs1057518013
NM_002755.4(MAP2K1):c.516+3G>A
NM_002755.4(MAP2K1):c.516+9G>C
NM_002755.4(MAP2K1):c.517-10T>C
NM_002755.4(MAP2K1):c.517-13C>G
NM_002755.4(MAP2K1):c.517-16A>T
NM_002755.4(MAP2K1):c.517-1G>T
NM_002755.4(MAP2K1):c.517-2A>T rs1555416876
NM_002755.4(MAP2K1):c.517-9T>A rs758986316
NM_002755.4(MAP2K1):c.519A>T (p.Val173=) rs1471931068
NM_002755.4(MAP2K1):c.520A>G (p.Ile174Val) rs1891814988
NM_002755.4(MAP2K1):c.525A>G (p.Lys175=) rs1555416880
NM_002755.4(MAP2K1):c.528C>G (p.Gly176=)
NM_002755.4(MAP2K1):c.529C>A (p.Leu177Met)
NM_002755.4(MAP2K1):c.529C>G (p.Leu177Val) rs1891815342
NM_002755.4(MAP2K1):c.537T>C (p.Tyr179=) rs1188803242
NM_002755.4(MAP2K1):c.53C>G (p.Ser18Cys) rs1349988835
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=) rs1567012356
NM_002755.4(MAP2K1):c.551A>T (p.His184Leu)
NM_002755.4(MAP2K1):c.553A>G (p.Lys185Glu)
NM_002755.4(MAP2K1):c.556A>G (p.Ile186Val)
NM_002755.4(MAP2K1):c.564C>T (p.His188=)
NM_002755.4(MAP2K1):c.568+14001A>G
NM_002755.4(MAP2K1):c.568+1G>A rs730880505
NM_002755.4(MAP2K1):c.568+4A>G
NM_002755.4(MAP2K1):c.568+6A>G rs1430324310
NM_002755.4(MAP2K1):c.568+9T>A rs748379069
NM_002755.4(MAP2K1):c.569-11C>T rs1892919708
NM_002755.4(MAP2K1):c.569-49_569-6del
NM_002755.4(MAP2K1):c.569-4G>A rs2140667203
NM_002755.4(MAP2K1):c.569-8C>T rs375614631
NM_002755.4(MAP2K1):c.573C>G (p.Val191=)
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val) rs2140667372
NM_002755.4(MAP2K1):c.589C>T (p.Leu197=)
NM_002755.4(MAP2K1):c.596A>G (p.Asn199Ser)
NM_002755.4(MAP2K1):c.5C>G (p.Pro2Arg)
NM_002755.4(MAP2K1):c.600C>T (p.Ser200=)
NM_002755.4(MAP2K1):c.602G>A (p.Arg201His)
NM_002755.4(MAP2K1):c.603T>C (p.Arg201=)
NM_002755.4(MAP2K1):c.606G>A (p.Gly202=)
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) rs1057519733
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.612C>A (p.Ile204=) rs2140667598
NM_002755.4(MAP2K1):c.612C>G (p.Ile204Met) rs2140667598
NM_002755.4(MAP2K1):c.628G>C (p.Gly210Arg) rs2140667730
NM_002755.4(MAP2K1):c.630G>A (p.Gly210=) rs1595884752
NM_002755.4(MAP2K1):c.632T>A (p.Val211Asp) rs1057519822
NM_002755.4(MAP2K1):c.633C>G (p.Val211=)
NM_002755.4(MAP2K1):c.637G>A (p.Gly213Arg)
NM_002755.4(MAP2K1):c.63C>T (p.Asn21=)
NM_002755.4(MAP2K1):c.644T>C (p.Leu215Pro) rs1057519823
NM_002755.4(MAP2K1):c.645C>G (p.Leu215=) rs2140667933
NM_002755.4(MAP2K1):c.647T>C (p.Ile216Thr)
NM_002755.4(MAP2K1):c.649G>A (p.Asp217Asn)
NM_002755.4(MAP2K1):c.652T>C (p.Ser218Pro) rs2140668016
NM_002755.4(MAP2K1):c.657G>C (p.Met219Ile) rs730880506
NM_002755.4(MAP2K1):c.665C>A (p.Ser222Tyr) rs2140668182
NM_002755.4(MAP2K1):c.666C>T (p.Ser222=)
NM_002755.4(MAP2K1):c.669C>T (p.Phe223=)
NM_002755.4(MAP2K1):c.672G>A (p.Val224=)
NM_002755.4(MAP2K1):c.681G>T (p.Arg227Ser) rs2140668342
NM_002755.4(MAP2K1):c.692C>G (p.Ser231Trp)
NM_002755.4(MAP2K1):c.692C>T (p.Ser231Leu) rs1473690179
NM_002755.4(MAP2K1):c.693+10G>C
NM_002755.4(MAP2K1):c.693+11A>G
NM_002755.4(MAP2K1):c.693+14T>G
NM_002755.4(MAP2K1):c.693+4T>C
NM_002755.4(MAP2K1):c.694-11C>T
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.694-13_694-10del
NM_002755.4(MAP2K1):c.694-148G>C rs73471746
NM_002755.4(MAP2K1):c.694-16T>A
NM_002755.4(MAP2K1):c.694-16T>C
NM_002755.4(MAP2K1):c.694-19C>T
NM_002755.4(MAP2K1):c.694-5T>G rs1054274808
NM_002755.4(MAP2K1):c.694-7C>T
NM_002755.4(MAP2K1):c.69C>A (p.Thr23=)
NM_002755.4(MAP2K1):c.6C>G (p.Pro2=)
NM_002755.4(MAP2K1):c.709G>A (p.Gly237Arg)
NM_002755.4(MAP2K1):c.70A>G (p.Ser24Gly) rs2093344167
NM_002755.4(MAP2K1):c.724G>A (p.Val242Met)
NM_002755.4(MAP2K1):c.726G>A (p.Val242=)
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) rs772752167
NM_002755.4(MAP2K1):c.730T>A (p.Ser244Thr)
NM_002755.4(MAP2K1):c.730T>G (p.Ser244Ala) rs730880507
NM_002755.4(MAP2K1):c.731C>G (p.Ser244Ter) rs1007782463
NM_002755.4(MAP2K1):c.739T>C (p.Trp247Arg) rs2140674116
NM_002755.4(MAP2K1):c.753G>A (p.Leu251=)
NM_002755.4(MAP2K1):c.754T>G (p.Ser252Ala)
NM_002755.4(MAP2K1):c.763G>A (p.Glu255Lys) rs760016123
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
NM_002755.4(MAP2K1):c.770C>T (p.Ala257Val) rs1334665647
NM_002755.4(MAP2K1):c.772G>T (p.Val258Phe)
NM_002755.4(MAP2K1):c.774T>C (p.Val258=)
NM_002755.4(MAP2K1):c.77C>T (p.Ala26Val)
NM_002755.4(MAP2K1):c.790C>T (p.Pro264Ser) rs1057519734
NM_002755.4(MAP2K1):c.793C>T (p.Pro265Ser) rs1567025858
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer) rs1893005622
NM_002755.4(MAP2K1):c.80+14G>A rs1057522314
NM_002755.4(MAP2K1):c.80+16G>C
NM_002755.4(MAP2K1):c.80+18_80+19del
NM_002755.4(MAP2K1):c.80+195del rs145028363
NM_002755.4(MAP2K1):c.80+2T>C
NM_002755.4(MAP2K1):c.80+33C>T rs56149436
NM_002755.4(MAP2K1):c.80+54G>C rs4483802
NM_002755.4(MAP2K1):c.80+6T>C
NM_002755.4(MAP2K1):c.80+85del rs2140512008
NM_002755.4(MAP2K1):c.80+87del rs71447901
NM_002755.4(MAP2K1):c.800A>T (p.Asp267Val)
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu)
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr) rs1555420656
NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val) rs757459909
NM_002755.4(MAP2K1):c.81-12A>G
NM_002755.4(MAP2K1):c.81-13C>T
NM_002755.4(MAP2K1):c.81-13del
NM_002755.4(MAP2K1):c.81-7G>C
NM_002755.4(MAP2K1):c.811C>G (p.Leu271Val)
NM_002755.4(MAP2K1):c.812T>G (p.Leu271Arg) rs1555420658
NM_002755.4(MAP2K1):c.81G>A (p.Glu27=)
NM_002755.4(MAP2K1):c.828G>A (p.Gly276=)
NM_002755.4(MAP2K1):c.836T>C (p.Val279Ala)
NM_002755.4(MAP2K1):c.840A>G (p.Glu280=)
NM_002755.4(MAP2K1):c.842_844del (p.Gly281del)
NM_002755.4(MAP2K1):c.849G>A (p.Ala283=)
NM_002755.4(MAP2K1):c.851C>A (p.Ala284Asp)
NM_002755.4(MAP2K1):c.853G>A (p.Glu285Lys) rs1893007795
NM_002755.4(MAP2K1):c.864C>G (p.Pro288=)
NM_002755.4(MAP2K1):c.868C>A (p.Pro290Thr)
NM_002755.4(MAP2K1):c.86A>G (p.Asn29Ser)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002755.4(MAP2K1):c.873G>A (p.Arg291=)
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) rs397516794
NM_002755.4(MAP2K1):c.877C>G (p.Pro293Ala)
NM_002755.4(MAP2K1):c.877C>T (p.Pro293Ser) rs918690546
NM_002755.4(MAP2K1):c.879C>G (p.Pro293=) rs370521459
NM_002755.4(MAP2K1):c.87C>T (p.Asn29=)
NM_002755.4(MAP2K1):c.885G>T (p.Arg295Ser)
NM_002755.4(MAP2K1):c.894C>T (p.Ser298=) rs2140675493
NM_002755.4(MAP2K1):c.895+12G>A rs2140675512
NM_002755.4(MAP2K1):c.895+13G>A
NM_002755.4(MAP2K1):c.895+15G>A
NM_002755.4(MAP2K1):c.895+19C>A
NM_002755.4(MAP2K1):c.895+19C>T
NM_002755.4(MAP2K1):c.896-284dup rs144137205
NM_002755.4(MAP2K1):c.896-3T>C rs2140678872
NM_002755.4(MAP2K1):c.896-5T>C rs748953467
NM_002755.4(MAP2K1):c.896-5del rs748946786
NM_002755.4(MAP2K1):c.896-6T>C
NM_002755.4(MAP2K1):c.899A>G (p.Tyr300Cys)
NM_002755.4(MAP2K1):c.904A>C (p.Met302Leu) rs1023593707
NM_002755.4(MAP2K1):c.906G>T (p.Met302Ile)
NM_002755.4(MAP2K1):c.909C>T (p.Asp303=)
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln) rs1595887104
NM_002755.4(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.4(MAP2K1):c.920C>T (p.Pro307Leu) rs2140678942
NM_002755.4(MAP2K1):c.922A>T (p.Met308Leu) rs2140678957
NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val)
NM_002755.4(MAP2K1):c.930T>G (p.Ile310Met)
NM_002755.4(MAP2K1):c.937T>C (p.Leu313=)
NM_002755.4(MAP2K1):c.939G>A (p.Leu313=)
NM_002755.4(MAP2K1):c.940T>C (p.Leu314=)
NM_002755.4(MAP2K1):c.949A>G (p.Ile317Val)
NM_002755.4(MAP2K1):c.950T>C (p.Ile317Thr)
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
NM_002755.4(MAP2K1):c.960+12C>T
NM_002755.4(MAP2K1):c.960+14G>A rs200963333
NM_002755.4(MAP2K1):c.960+1G>T
NM_002755.4(MAP2K1):c.960+5G>A
NM_002755.4(MAP2K1):c.960+7dup rs1438742251
NM_002755.4(MAP2K1):c.961-10G>C rs2140682882
NM_002755.4(MAP2K1):c.961-18C>T rs2140682866
NM_002755.4(MAP2K1):c.961-19T>C
NM_002755.4(MAP2K1):c.961-2A>G rs2140682916
NM_002755.4(MAP2K1):c.961-61_997dup rs1893152621
NM_002755.4(MAP2K1):c.961-6T>C
NM_002755.4(MAP2K1):c.961-8G>T
NM_002755.4(MAP2K1):c.961-8_961-7del
NM_002755.4(MAP2K1):c.967C>T (p.Pro323Ser)
NM_002755.4(MAP2K1):c.969A>C (p.Pro323=)
NM_002755.4(MAP2K1):c.969A>G (p.Pro323=)
NM_002755.4(MAP2K1):c.96C>T (p.Ala32=)
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln) rs762436311
NM_002755.4(MAP2K1):c.978C>A (p.Pro326=)
NM_002755.4(MAP2K1):c.983_987del (p.Gly328fs)
NM_002755.4(MAP2K1):c.984A>T (p.Gly328=)
NM_002755.4(MAP2K1):c.987G>T (p.Val329=)
NM_002755.4(MAP2K1):c.991A>G (p.Ser331Gly)
NM_002755.4(MAP2K1):c.995T>A (p.Leu332Gln) rs1316044036
NM_002755.4(MAP2K1):c.995T>G (p.Leu332Arg) rs1316044036
NM_002755.4(MAP2K1):c.99G>A (p.Leu33=)
NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)

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