ClinVar Miner

List of variants in gene AGA studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 471
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.699-25G>C rs4690521 0.98895
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000027.4(AGA):c.941-84C>G rs3805167 0.65485
NM_000027.4(AGA):c.127+25C>T rs11131799 0.60222
NM_000027.4(AGA):c.*183A>C rs1061814 0.50675
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000027.4(AGA):c.*220G>C rs12502301 0.00696
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000027.4(AGA):c.*850C>T rs149021855 0.00370
NM_000027.4(AGA):c.*718G>A rs72988642 0.00364
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_000027.4(AGA):c.*8T>C rs112307209 0.00255
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000027.4(AGA):c.*882A>C rs3749479 0.00124
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000027.4(AGA):c.*852C>T rs182081300 0.00096
NM_000027.4(AGA):c.*457A>G rs3749478 0.00087
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000027.4(AGA):c.*96A>T rs141424240 0.00076
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000027.4(AGA):c.*752G>C rs540646864 0.00042
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.*317T>C rs143028069 0.00034
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00034
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_000027.4(AGA):c.*136T>C rs184905324 0.00028
NM_000027.4(AGA):c.806+3A>G rs368144874 0.00028
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000027.4(AGA):c.*219T>C rs755458807 0.00019
NM_000027.4(AGA):c.286A>T (p.Thr96Ser) rs184672077 0.00019
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000027.4(AGA):c.698+20C>T rs753356588 0.00012
NM_000027.4(AGA):c.109A>G (p.Lys37Glu) rs766776902 0.00010
NM_000027.4(AGA):c.150A>T (p.Gly50=) rs143210437 0.00009
NM_000027.4(AGA):c.807-12dup rs749999445 0.00009
NM_000027.4(AGA):c.127+13G>A rs376430029 0.00007
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000027.4(AGA):c.*207T>C rs546644917 0.00006
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656 0.00006
NM_000027.4(AGA):c.523C>T (p.Pro175Ser) rs367968495 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.282-6T>C rs749661341 0.00005
NM_000027.4(AGA):c.623-6T>C rs753309242 0.00005
NM_000027.4(AGA):c.75C>T (p.Ser25=) rs146683705 0.00005
NM_000027.4(AGA):c.127+16C>T rs745840548 0.00004
NM_000027.4(AGA):c.128-18T>C rs367922948 0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.281+12G>A rs754261269 0.00004
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000027.4(AGA):c.696T>C (p.His232=) rs1211143576 0.00003
NM_000027.4(AGA):c.854C>T (p.Ala285Val) rs763018918 0.00003
NM_000027.4(AGA):c.129G>A (p.Ala43=) rs780842670 0.00002
NM_000027.4(AGA):c.171G>A (p.Val57=) rs750795098 0.00002
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187 0.00002
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616 0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000027.4(AGA):c.598G>A (p.Asp200Asn) rs761243441 0.00002
NM_000027.4(AGA):c.698+10T>C rs756908895 0.00002
NM_000027.4(AGA):c.738T>C (p.Tyr246=) rs758804988 0.00002
NM_000027.4(AGA):c.987G>C (p.Met329Ile) rs774051527 0.00002
NM_000027.3(AGA):c.-94G>A rs886059264 0.00001
NM_000027.4(AGA):c.*48G>A rs752452878 0.00001
NM_000027.4(AGA):c.*635A>G rs1175193567 0.00001
NM_000027.4(AGA):c.*868C>G rs886059258 0.00001
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078 0.00001
NM_000027.4(AGA):c.128-14G>A rs769452319 0.00001
NM_000027.4(AGA):c.153C>T (p.Gly51=) rs1404115808 0.00001
NM_000027.4(AGA):c.160C>T (p.Leu54=) rs992715539 0.00001
NM_000027.4(AGA):c.167C>T (p.Ala56Val) rs758886928 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser) rs1489211352 0.00001
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.204G>A (p.Gln68=) rs373209495 0.00001
NM_000027.4(AGA):c.219A>G (p.Val73=) rs999695070 0.00001
NM_000027.4(AGA):c.281+18G>A rs376346895 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.301G>A (p.Ala101Thr) rs752914246 0.00001
NM_000027.4(AGA):c.362A>G (p.His121Arg) rs1282622869 0.00001
NM_000027.4(AGA):c.38C>T (p.Pro13Leu) rs759832068 0.00001
NM_000027.4(AGA):c.390G>C (p.Glu130Asp) rs770240412 0.00001
NM_000027.4(AGA):c.394+10T>G rs781210455 0.00001
NM_000027.4(AGA):c.395-4C>T rs530298258 0.00001
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.402A>G (p.Thr134=) rs770449168 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.507+8C>T rs1371366618 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.515T>C (p.Ile172Thr) rs745924498 0.00001
NM_000027.4(AGA):c.574A>G (p.Ile192Val) rs189159117 0.00001
NM_000027.4(AGA):c.600T>C (p.Asp200=) rs777128985 0.00001
NM_000027.4(AGA):c.604C>T (p.Arg202Cys) rs764539498 0.00001
NM_000027.4(AGA):c.636C>T (p.Ile212=) rs1384548395 0.00001
NM_000027.4(AGA):c.649C>T (p.His217Tyr) rs763070208 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.699-5C>T rs1324665450 0.00001
NM_000027.4(AGA):c.705A>G (p.Val235=) rs150175428 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.785T>C (p.Ile262Thr) rs772697272 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.807-15C>T rs746561546 0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys) rs1254844989 0.00001
NM_000027.4(AGA):c.837A>C (p.Gly279=) rs368840965 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.894A>G (p.Pro298=) rs760082787 0.00001
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120 0.00001
NM_000027.4(AGA):c.918T>C (p.Cys306=) rs749698472 0.00001
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263 0.00001
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000027.4(AGA):c.940G>A (p.Gly314Ser) rs149870867 0.00001
NM_000027.4(AGA):c.941-8G>T rs1458091976 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NC_000004.11:g.(?_178351918)_(178357515_?)del
NC_000004.11:g.(?_178352862)_(178363529_?)dup
NC_000004.11:g.(?_178357420)_(178363667_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.3(AGA):c.-127_-123delGGGAC rs886059265
NM_000027.4(AGA):c.*13G>C rs1736640377
NM_000027.4(AGA):c.*35G>C rs767154296
NM_000027.4(AGA):c.*3C>T rs1736640740
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*819CT[2] rs146345347
NM_000027.4(AGA):c.*851G>A rs186184411
NM_000027.4(AGA):c.*856C>G rs1736607561
NM_000027.4(AGA):c.*915G>A rs745380599
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
NM_000027.4(AGA):c.1006A>C (p.Asn336His) rs151105390
NM_000027.4(AGA):c.1007del (p.Asn336fs)
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
NM_000027.4(AGA):c.1017T>G (p.Thr339=) rs2111004518
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter)
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
NM_000027.4(AGA):c.1038C>A (p.Ile346=)
NM_000027.4(AGA):c.105C>T (p.Pro35=) rs199757656
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
NM_000027.4(AGA):c.120C>A (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.120C>T (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.127+11G>A
NM_000027.4(AGA):c.127+12C>T
NM_000027.4(AGA):c.127+14G>A
NM_000027.4(AGA):c.127+15C>T
NM_000027.4(AGA):c.127+16C>G
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127+5G>A rs1327701669
NM_000027.4(AGA):c.127+8T>C rs1227443826
NM_000027.4(AGA):c.127+9T>C
NM_000027.4(AGA):c.128-14G>C
NM_000027.4(AGA):c.128-18T>A
NM_000027.4(AGA):c.128-19A>G
NM_000027.4(AGA):c.128-2A>C
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
NM_000027.4(AGA):c.135G>A (p.Arg45=)
NM_000027.4(AGA):c.153C>A (p.Gly51=) rs1404115808
NM_000027.4(AGA):c.159C>G (p.Ala53=)
NM_000027.4(AGA):c.15G>A (p.Ser5=) rs777972773
NM_000027.4(AGA):c.15G>T (p.Ser5=)
NM_000027.4(AGA):c.165T>C (p.Asp55=)
NM_000027.4(AGA):c.168A>C (p.Ala56=) rs2111021852
NM_000027.4(AGA):c.168A>G (p.Ala56=)
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.187dup (p.Met63fs) rs2111021738
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
NM_000027.4(AGA):c.202C>T (p.Gln68Ter) rs1560950756
NM_000027.4(AGA):c.210del (p.Asp70fs) rs1736955435
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.216T>C (p.Ser72=)
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000027.4(AGA):c.222C>T (p.Gly74=)
NM_000027.4(AGA):c.224T>C (p.Phe75Ser) rs757065230
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
NM_000027.4(AGA):c.238G>C (p.Asp80His)
NM_000027.4(AGA):c.240T>C (p.Asp80=)
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu) rs903884327
NM_000027.4(AGA):c.24T>G (p.Pro8=) rs34413111
NM_000027.4(AGA):c.259C>T (p.Leu87=)
NM_000027.4(AGA):c.268dup (p.Met90fs) rs2111021475
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
NM_000027.4(AGA):c.27G>C (p.Val9=) rs764924616
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
NM_000027.4(AGA):c.281+11C>T
NM_000027.4(AGA):c.281+12_281+13delinsAG
NM_000027.4(AGA):c.281+15C>G
NM_000027.4(AGA):c.281+18G>T rs376346895
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.281+8C>T rs2111021417
NM_000027.4(AGA):c.281+9A>G rs2111021413
NM_000027.4(AGA):c.282-10T>C rs2111020138
NM_000027.4(AGA):c.282-12A>G
NM_000027.4(AGA):c.282-17A>T
NM_000027.4(AGA):c.282-19G>A
NM_000027.4(AGA):c.282-2A>G
NM_000027.4(AGA):c.282-9T>G rs2111020136
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.306A>T (p.Val102=)
NM_000027.4(AGA):c.308G>A (p.Gly103Glu) rs1736932419
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
NM_000027.4(AGA):c.319C>A (p.Arg107=) rs765070743
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.330T>C (p.Asn110=)
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.334A>G (p.Ile112Val) rs925345330
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.340G>A (p.Val114Met)
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.348G>A (p.Arg116=) rs2111019818
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.394+13C>T
NM_000027.4(AGA):c.394+14T>C
NM_000027.4(AGA):c.394+18C>G
NM_000027.4(AGA):c.394+18C>T
NM_000027.4(AGA):c.394+20_394+21del
NM_000027.4(AGA):c.394+6T>C
NM_000027.4(AGA):c.394+7_394+10del rs761207366
NM_000027.4(AGA):c.394+9T>C
NM_000027.4(AGA):c.395-11C>G
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.395-14T>A
NM_000027.4(AGA):c.395-4C>G
NM_000027.4(AGA):c.395-5T>C
NM_000027.4(AGA):c.395-6C>A
NM_000027.4(AGA):c.395-7T>C rs2111018312
NM_000027.4(AGA):c.395-9A>T
NM_000027.4(AGA):c.39del (p.Leu15fs)
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.402A>C (p.Thr134=)
NM_000027.4(AGA):c.411A>G (p.Gln137=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.426C>T (p.Ile142=)
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
NM_000027.4(AGA):c.432A>G (p.Glu144=) rs2111018169
NM_000027.4(AGA):c.435C>T (p.Asp145=) rs199682344
NM_000027.4(AGA):c.43C>T (p.Leu15=) rs149921310
NM_000027.4(AGA):c.449C>T (p.Ala150Val) rs1202403932
NM_000027.4(AGA):c.453T>C (p.Ser151=)
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
NM_000027.4(AGA):c.454C>T (p.Gln152Ter) rs991950983
NM_000027.4(AGA):c.45G>T (p.Leu15=)
NM_000027.4(AGA):c.471T>C (p.Asp157=)
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
NM_000027.4(AGA):c.489C>T (p.Cys163=)
NM_000027.4(AGA):c.48C>A (p.Leu16=) rs749548544
NM_000027.4(AGA):c.48C>T (p.Leu16=) rs749548544
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.501T>C (p.Tyr167=)
NM_000027.4(AGA):c.507+10C>T rs1190000409
NM_000027.4(AGA):c.507+11A>T
NM_000027.4(AGA):c.507+1G>C
NM_000027.4(AGA):c.507+20A>T
NM_000027.4(AGA):c.507+5G>C rs1472514068
NM_000027.4(AGA):c.507+7A>G rs2111017976
NM_000027.4(AGA):c.507+9A>T
NM_000027.4(AGA):c.508-14A>C
NM_000027.4(AGA):c.508-16T>A
NM_000027.4(AGA):c.508-16T>G
NM_000027.4(AGA):c.508-18C>G rs762450535
NM_000027.4(AGA):c.508-18C>T
NM_000027.4(AGA):c.508-2A>C
NM_000027.4(AGA):c.508-7T>C
NM_000027.4(AGA):c.509dup (p.Asn170fs) rs2111015936
NM_000027.4(AGA):c.510T>C (p.Asn170=) rs1736864324
NM_000027.4(AGA):c.519dup (p.Asp174fs) rs2111015862
NM_000027.4(AGA):c.528A>G (p.Ser176=)
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.530A>G (p.Lys177Arg) rs1189458949
NM_000027.4(AGA):c.534C>T (p.Tyr178=)
NM_000027.4(AGA):c.535T>C (p.Cys179Arg) rs1187962299
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.537C>T (p.Cys179=) rs748171793
NM_000027.4(AGA):c.540A>C (p.Gly180=)
NM_000027.4(AGA):c.543C>A (p.Pro181=)
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
NM_000027.4(AGA):c.549A>G (p.Lys183=) rs2111015751
NM_000027.4(AGA):c.552A>C (p.Pro184=)
NM_000027.4(AGA):c.552A>G (p.Pro184=)
NM_000027.4(AGA):c.552del (p.Pro185fs)
NM_000027.4(AGA):c.555_558del (p.Gly186fs) rs1736861131
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
NM_000027.4(AGA):c.559A>G (p.Ile187Val) rs2111015706
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000027.4(AGA):c.570G>A (p.Gln190=) rs111633694
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.57C>G (p.Ala19=)
NM_000027.4(AGA):c.57C>T (p.Ala19=) rs1737062444
NM_000027.4(AGA):c.582C>A (p.Ile194=)
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.58C>T (p.Leu20=) rs758423275
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
NM_000027.4(AGA):c.611A>T (p.His204Leu)
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
NM_000027.4(AGA):c.622+9_622+15dup
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-17T>C
NM_000027.4(AGA):c.623-18T>G rs2111013629
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.623-3T>C
NM_000027.4(AGA):c.623-4C>G
NM_000027.4(AGA):c.623-9A>C rs1388029418
NM_000027.4(AGA):c.624C>T (p.Gly208=)
NM_000027.4(AGA):c.63G>A (p.Val21=) rs1737061654
NM_000027.4(AGA):c.665del (p.Thr222fs)
NM_000027.4(AGA):c.66C>T (p.Arg22=)
NM_000027.4(AGA):c.687C>T (p.Phe229=)
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+11C>A
NM_000027.4(AGA):c.698+13A>G
NM_000027.4(AGA):c.698+14A>G
NM_000027.4(AGA):c.698+19A>C
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.698+1del rs2111013273
NM_000027.4(AGA):c.698+2T>C rs2111013260
NM_000027.4(AGA):c.699-11C>A
NM_000027.4(AGA):c.699-11C>T
NM_000027.4(AGA):c.699-12A>G
NM_000027.4(AGA):c.699-17T>C
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.699-9C>G
NM_000027.4(AGA):c.699-9C>T
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
NM_000027.4(AGA):c.701G>A (p.Arg234His)
NM_000027.4(AGA):c.705A>C (p.Val235=)
NM_000027.4(AGA):c.708A>G (p.Gly236=) rs2111009301
NM_000027.4(AGA):c.711C>T (p.Asp237=)
NM_000027.4(AGA):c.719T>C (p.Ile240Thr) rs1288215227
NM_000027.4(AGA):c.722C>A (p.Pro241His)
NM_000027.4(AGA):c.723T>G (p.Pro241=)
NM_000027.4(AGA):c.72C>T (p.Ser24=)
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
NM_000027.4(AGA):c.741T>C (p.Ala247=) rs2111009204
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
NM_000027.4(AGA):c.750T>C (p.Thr250=) rs2111009153
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.756G>A (p.Gly252=) rs2111009133
NM_000027.4(AGA):c.756G>T (p.Gly252=)
NM_000027.4(AGA):c.757G>A (p.Ala253Thr) rs1736735409
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
NM_000027.4(AGA):c.771T>G (p.Thr257=) rs1736734050
NM_000027.4(AGA):c.774G>C (p.Gly258=)
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
NM_000027.4(AGA):c.780T>C (p.Gly260=) rs1579040275
NM_000027.4(AGA):c.787T>C (p.Leu263=)
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.789G>A (p.Leu263=) rs2111008977
NM_000027.4(AGA):c.791T>C (p.Met264Thr) rs1404090170
NM_000027.4(AGA):c.795C>T (p.Arg265=) rs2111008931
NM_000027.4(AGA):c.797dup (p.Leu267fs)
NM_000027.4(AGA):c.79C>T (p.Leu27=)
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.801G>T (p.Leu267=) rs1736730616
NM_000027.4(AGA):c.806+11T>G
NM_000027.4(AGA):c.806+12T>A
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.806+13dup
NM_000027.4(AGA):c.806+14G>C
NM_000027.4(AGA):c.806+19T>C
NM_000027.4(AGA):c.806+20G>A
NM_000027.4(AGA):c.806+7C>A
NM_000027.4(AGA):c.807-11G>C
NM_000027.4(AGA):c.807-17A>C
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.807-3C>T
NM_000027.4(AGA):c.807-8T>A
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
NM_000027.4(AGA):c.810C>T (p.Tyr270=)
NM_000027.4(AGA):c.816T>C (p.Ala272=)
NM_000027.4(AGA):c.81G>T (p.Leu27=)
NM_000027.4(AGA):c.822A>G (p.Glu274=) rs2111007039
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del) rs764622951
NM_000027.4(AGA):c.844C>G (p.Pro282Ala) rs2111006963
NM_000027.4(AGA):c.84C>T (p.Pro28=) rs182442304
NM_000027.4(AGA):c.852A>T (p.Ile284=) rs540397394
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter) rs1736687730
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
NM_000027.4(AGA):c.865G>A (p.Val289Met)
NM_000027.4(AGA):c.867G>C (p.Val289=)
NM_000027.4(AGA):c.870T>C (p.Ile290=)
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
NM_000027.4(AGA):c.879C>T (p.Ile293=)
NM_000027.4(AGA):c.897A>G (p.Glu299=) rs2111006864
NM_000027.4(AGA):c.900C>A (p.Phe300Leu) rs2111006859
NM_000027.4(AGA):c.902T>G (p.Phe301Cys) rs35916166
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000027.4(AGA):c.906G>A (p.Gly302=) rs2111006840
NM_000027.4(AGA):c.90C>G (p.Val30=)
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
NM_000027.4(AGA):c.936T>C (p.Ser312=)
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
NM_000027.4(AGA):c.940+13T>C
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+20T>C
NM_000027.4(AGA):c.940+8G>A rs2111006715
NM_000027.4(AGA):c.940+8G>T rs2111006715
NM_000027.4(AGA):c.940+9T>C rs2111006710
NM_000027.4(AGA):c.941-17C>T
NM_000027.4(AGA):c.941-1G>T
NM_000027.4(AGA):c.941-20T>C
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.941-7G>T rs748346003
NM_000027.4(AGA):c.948T>C (p.Ala316=)
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.960T>G (p.Leu320=)
NM_000027.4(AGA):c.966A>G (p.Thr322=) rs753625719
NM_000027.4(AGA):c.978T>C (p.Phe326=) rs373878347
NM_000027.4(AGA):c.978T>G (p.Phe326Leu) rs373878347
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000027.4(AGA):c.999C>G (p.Ser333=) rs1479579564
NM_000027.4(AGA):c.99T>C (p.Thr33=) rs2111028048
NM_000027.4(AGA):c.9del (p.Lys4fs)

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