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.*220G>C
|
rs12502301
|
0.00696
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
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.*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.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.*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.*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.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
NM_000027.4(AGA):c.*207T>C
|
rs546644917
|
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.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)
|
rs373865451
|
0.00004
|
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
|
rs763018918
|
0.00003
|
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
|
rs761243441
|
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.167C>T (p.Ala56Val)
|
rs758886928
|
0.00001
|
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
|
rs1489211352
|
0.00001
|
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
|
rs753394137
|
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.515T>C (p.Ile172Thr)
|
rs745924498
|
0.00001
|
NM_000027.4(AGA):c.574A>G (p.Ile192Val)
|
rs189159117
|
0.00001
|
NM_000027.4(AGA):c.604C>T (p.Arg202Cys)
|
rs764539498
|
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.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.824A>G (p.Tyr275Cys)
|
rs1254844989
|
0.00001
|
NM_000027.4(AGA):c.92T>C (p.Val31Ala)
|
rs886059263
|
0.00001
|
NM_000027.4(AGA):c.940G>A (p.Gly314Ser)
|
rs149870867
|
0.00001
|
NC_000004.11:g.(?_178352862)_(178363529_?)dup
|
|
|
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.1033T>C (p.Cys345Arg)
|
|
|
NM_000027.4(AGA):c.127+5G>A
|
rs1327701669
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
|
|
|
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.243A>T (p.Glu81Asp)
|
|
|
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
|
rs903884327
|
|
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
|
|
|
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
|
|
|
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
|
|
|
NM_000027.4(AGA):c.281+12_281+13delinsAG
|
|
|
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
|
|
|
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
|
|
|
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.334A>G (p.Ile112Val)
|
rs925345330
|
|
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
|
|
|
NM_000027.4(AGA):c.340G>A (p.Val114Met)
|
|
|
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.394+6T>C
|
|
|
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
|
|
|
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
|
rs1202403932
|
|
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
|
|
|
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
|
|
|
NM_000027.4(AGA):c.507+5G>C
|
rs1472514068
|
|
NM_000027.4(AGA):c.530A>G (p.Lys177Arg)
|
rs1189458949
|
|
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.545A>G (p.Tyr182Cys)
|
|
|
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
|
|
|
NM_000027.4(AGA):c.559A>G (p.Ile187Val)
|
rs2111015706
|
|
NM_000027.4(AGA):c.571G>C (p.Asp191His)
|
rs766110192
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
NM_000027.4(AGA):c.611A>T (p.His204Leu)
|
|
|
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
|
|
|
NM_000027.4(AGA):c.623-3T>C
|
|
|
NM_000027.4(AGA):c.693A>G (p.Ile231Met)
|
rs1579042146
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.699-7C>T
|
rs886059260
|
|
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.719T>C (p.Ile240Thr)
|
rs1288215227
|
|
NM_000027.4(AGA):c.722C>A (p.Pro241His)
|
|
|
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
|
rs1736735409
|
|
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
|
|
|
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
|
|
|
NM_000027.4(AGA):c.791T>C (p.Met264Thr)
|
rs1404090170
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
NM_000027.4(AGA):c.807-3C>T
|
|
|
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
|
|
|
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.854C>G (p.Ala285Gly)
|
|
|
NM_000027.4(AGA):c.865G>A (p.Val289Met)
|
|
|
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
|
|
|
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.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.923A>G (p.Asn308Ser)
|
|
|
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
|
|
|
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
|
|
|
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
|
|
|
NM_000027.4(AGA):c.95A>C (p.Asn32Thr)
|
rs886059262
|
|
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
|
rs373878347
|
|