ClinVar Miner

List of variants studied for congenital dyserythropoietic anemia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 924
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HGVS dbSNP gnomAD frequency
NM_001321759.2(CDIN1):c.273+82C>T rs10220785 0.95448
NM_001321759.2(CDIN1):c.274-82T>A rs6495863 0.95445
NM_001321759.2(CDIN1):c.148-19G>T rs11073191 0.95366
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.834+40T>C rs911115 0.91369
NM_006363.5(SEC23B):c.-232C>G rs4813333 0.83645
NM_001321759.2(CDIN1):c.477-55G>A rs2381887 0.78569
NM_006363.6(SEC23B):c.1665+48C>T rs2295557 0.66701
NM_001321759.2(CDIN1):c.476+33T>C rs3743338 0.55611
NM_001321759.2(CDIN1):c.-105C>T rs3743337 0.48044
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) rs3784678 0.43599
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=) rs16957091 0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu) rs4265781 0.41423
NM_138477.4(CDAN1):c.*142A>G rs3742987 0.41378
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_138477.4(CDAN1):c.*214T>C rs3742988 0.39766
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) rs2072597 0.36000
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_006363.6(SEC23B):c.834+41G>A rs1555353 0.30830
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_138477.4(CDAN1):c.*463_*465del rs111961345 0.05900
NM_006563.5(KLF1):c.*277C>T rs16978757 0.05559
NM_006563.5(KLF1):c.*296G>A rs16978754 0.05553
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) rs2072596 0.04509
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_006563.5(KLF1):c.115A>C (p.Met39Leu) rs112631212 0.02025
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866 0.01218
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_006363.6(SEC23B):c.-24C>T rs115614151 0.01204
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 0.01142
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_138477.4(CDAN1):c.-14G>A rs190314153 0.00804
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.5(SEC23B):c.-52T>G rs191103191 0.00681
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.5(SEC23B):c.-186G>T rs138178711 0.00524
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=) rs147500837 0.00283
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_138477.4(CDAN1):c.2542-4C>G rs147426809 0.00225
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) rs117351327 0.00179
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_006563.5(KLF1):c.*22T>A rs149022596 0.00172
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_138477.4(CDAN1):c.*722G>A rs528323093 0.00145
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val) rs143086237 0.00130
NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys) rs140014115 0.00123
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) rs566095433 0.00089
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_006563.5(KLF1):c.*254C>T rs564687827 0.00081
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His) rs150657573 0.00076
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys) rs772655521 0.00060
NM_006563.5(KLF1):c.*367C>G rs375799978 0.00059
NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr) rs201599639 0.00055
NM_138477.4(CDAN1):c.1705G>C (p.Gly569Arg) rs201079951 0.00055
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_006363.5(SEC23B):c.-76G>C rs373348732 0.00050
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile) rs144448301 0.00050
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met) rs143857276 0.00048
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=) rs150438471 0.00046
NM_138477.4(CDAN1):c.1368-6C>T rs200290322 0.00045
NM_138477.4(CDAN1):c.2805-11T>A rs200767055 0.00044
NM_006363.6(SEC23B):c.1233+4C>T rs201883785 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_006563.5(KLF1):c.629C>G (p.Pro210Arg) rs530729436 0.00040
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg) rs200401359 0.00039
NM_006563.5(KLF1):c.*454C>G rs538356283 0.00035
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_006363.6(SEC23B):c.358G>A (p.Val120Met) rs372784283 0.00031
NM_138477.4(CDAN1):c.*223G>C rs568387944 0.00031
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_138477.4(CDAN1):c.57G>C (p.Val19=) rs150418267 0.00029
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.280-6T>C rs370880370 0.00028
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) rs547785696 0.00024
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys) rs181448047 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) rs530834583 0.00023
NM_138477.4(CDAN1):c.1058-11T>G rs372671684 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=) rs148759214 0.00023
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln) rs142833783 0.00023
NM_138477.4(CDAN1):c.2008-8C>T rs201733620 0.00022
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_006363.6(SEC23B):c.279+18A>T rs769730409 0.00021
NM_006563.5(KLF1):c.-43G>A rs372359976 0.00021
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_006363.6(SEC23B):c.*494T>C rs561479544 0.00012
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
NM_138477.4(CDAN1):c.-8C>T rs764807565 0.00012
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln) rs199753863 0.00012
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=) rs778218831 0.00012
NM_006363.6(SEC23B):c.835-11C>T rs370797703 0.00011
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys) rs185031946 0.00011
NM_138477.4(CDAN1):c.2947+9C>A rs372998688 0.00011
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln) rs910234195 0.00011
NM_006563.5(KLF1):c.*311A>G rs767532783 0.00010
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) rs150491625 0.00010
NM_138477.4(CDAN1):c.2541+14G>A rs199780617 0.00010
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=) rs61746359 0.00010
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg) rs140466726 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly) rs148074362 0.00009
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr) rs773290230 0.00008
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met) rs535792693 0.00007
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp) rs147135162 0.00007
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) rs766473215 0.00007
NM_006563.5(KLF1):c.*185G>A rs137908457 0.00007
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His) rs369919247 0.00007
NM_006363.5(SEC23B):c.-394A>C rs561908920 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu) rs368192130 0.00006
NM_138477.4(CDAN1):c.2008-15C>T rs774076440 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=) rs148994527 0.00005
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=) rs145050561 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=) rs778443189 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn) rs763130110 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_138477.4(CDAN1):c.*349A>G rs886051156 0.00004
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=) rs377342875 0.00004
NM_138477.4(CDAN1):c.2577G>A (p.Pro859=) rs368274213 0.00004
NM_138477.4(CDAN1):c.3046G>A (p.Ala1016Thr) rs369116219 0.00004
NM_138477.4(CDAN1):c.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.324C>T (p.Ser108=) rs945794101 0.00004
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu) rs752497862 0.00004
NM_138477.4(CDAN1):c.3559-10T>C rs543020087 0.00004
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val) rs373153188 0.00004
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser) rs778348206 0.00003
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006563.5(KLF1):c.*263C>T rs867980189 0.00003
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser) rs770414676 0.00003
NM_138477.4(CDAN1):c.2263-8C>T rs757508400 0.00003
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu) rs772668700 0.00003
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) rs80338698 0.00003
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile) rs745816995 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=) rs141832648 0.00003
NM_138477.4(CDAN1):c.943+4A>T rs771288663 0.00003
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) rs768744226 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys) rs752037101 0.00002
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His) rs757662443 0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090 0.00002
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly) rs777442287 0.00002
NM_006363.6(SEC23B):c.328T>C (p.Leu110=) rs368413002 0.00002
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln) rs766537047 0.00002
NM_138477.4(CDAN1):c.2007+11G>A rs758515470 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp) rs751799284 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys) rs764025922 0.00002
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His) rs146049960 0.00002
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile) rs771780683 0.00002
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn) rs755238710 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser) rs760038605 0.00001
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_006363.5(SEC23B):c.-80G>A rs886056524 0.00001
NM_006363.6(SEC23B):c.*32T>G rs879811598 0.00001
NM_006363.6(SEC23B):c.*448C>T rs550932027 0.00001
NM_006363.6(SEC23B):c.*561A>C rs778992067 0.00001
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) rs758029042 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.123C>T (p.Leu41=) rs554409729 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser) rs150210442 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile) rs757801115 0.00001
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657 0.00001
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val) rs755836066 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) rs921580564 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917 0.00001
NM_006363.6(SEC23B):c.1992+12T>C rs780986610 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006363.6(SEC23B):c.221+3A>G rs777858803 0.00001
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln) rs370537015 0.00001
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262 0.00001
NM_006363.6(SEC23B):c.711G>A (p.Lys237=) rs773579451 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677 0.00001
NM_006563.5(KLF1):c.*2C>T rs778904219 0.00001
NM_006563.5(KLF1):c.*312G>C rs1970414362 0.00001
NM_006563.5(KLF1):c.255G>A (p.Pro85=) rs886054238 0.00001
NM_006563.5(KLF1):c.286C>T (p.Leu96=) rs748056490 0.00001
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp) rs886054237 0.00001
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys) rs111888566 0.00001
NM_006563.5(KLF1):c.606G>A (p.Gly202=) rs886054236 0.00001
NM_006563.5(KLF1):c.690C>T (p.Ala230=) rs775669419 0.00001
NM_138477.4(CDAN1):c.*58G>A rs567117839 0.00001
NM_138477.4(CDAN1):c.*753C>T rs1011188304 0.00001
NM_138477.4(CDAN1):c.-4C>G rs776319103 0.00001
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=) rs2061657466 0.00001
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp) rs1470472984 0.00001
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu) rs755117251 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=) rs199776068 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 0.00001
NM_138477.4(CDAN1):c.2262+10G>A rs1338899431 0.00001
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter) rs144546360 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 0.00001
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys) rs768892869 0.00001
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg) rs745824109 0.00001
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=) rs764432820 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu) rs559053820 0.00001
NM_138477.4(CDAN1):c.3559-11A>G rs375128684 0.00001
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=) rs138934554 0.00001
NM_138477.4(CDAN1):c.392G>A (p.Arg131His) rs1165157914 0.00001
NM_138477.4(CDAN1):c.569+9C>G rs778283367 0.00001
NC_000020.10:g.(?_18449649)_(18541384_?)dup
NC_000020.10:g.(?_18516277)_(18516406_?)del
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.18507416A>G
NC_000020.11:g.18512225_18512228del
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_001319999.2(RACGAP1):c.1187T>A (p.Leu396Gln) rs1948102480
NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) rs1595696464
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile) rs376569877
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser) rs137852312
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)
NM_002049.4(GATA1):c.865C>T (p.His289Tyr)
NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_006363.5(SEC23B):c.-283C>T rs886056522
NM_006363.5(SEC23B):c.-301G>A rs886056521
NM_006363.5(SEC23B):c.-94C>G rs886056523
NM_006363.6(SEC23B):c.*178C>T rs2060486772
NM_006363.6(SEC23B):c.*292T>G rs886056526
NM_006363.6(SEC23B):c.*308A>G rs2060487651
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.*493A>G rs886056527
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.-14-1G>A rs967988810
NM_006363.6(SEC23B):c.-8T>C rs766083236
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly) rs2060144762
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
NM_006363.6(SEC23B):c.1109+10C>G
NM_006363.6(SEC23B):c.1109+11A>C
NM_006363.6(SEC23B):c.1109+19C>A
NM_006363.6(SEC23B):c.1109+1G>C
NM_006363.6(SEC23B):c.1109+7T>C
NM_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1110-20A>T
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
NM_006363.6(SEC23B):c.1233+10A>C
NM_006363.6(SEC23B):c.1233+12T>A
NM_006363.6(SEC23B):c.1233+15T>A
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006363.6(SEC23B):c.1233+8_1233+9insG
NM_006363.6(SEC23B):c.1233_1233+1dup
NM_006363.6(SEC23B):c.1234-13A>C
NM_006363.6(SEC23B):c.1234-13A>G
NM_006363.6(SEC23B):c.1234-13A>T
NM_006363.6(SEC23B):c.1234-14_1234-13del rs765849514
NM_006363.6(SEC23B):c.1234-16C>A
NM_006363.6(SEC23B):c.1234-18G>A
NM_006363.6(SEC23B):c.1234-20C>T
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
NM_006363.6(SEC23B):c.1314+12A>T
NM_006363.6(SEC23B):c.1314+16C>T
NM_006363.6(SEC23B):c.1314+18A>G
NM_006363.6(SEC23B):c.1314+1G>A
NM_006363.6(SEC23B):c.1314_1314+10del
NM_006363.6(SEC23B):c.1315-16C>T
NM_006363.6(SEC23B):c.1315-4C>G
NM_006363.6(SEC23B):c.1315-5C>T
NM_006363.6(SEC23B):c.1315-6C>T
NM_006363.6(SEC23B):c.1315-7C>T
NM_006363.6(SEC23B):c.1315-8A>G
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
NM_006363.6(SEC23B):c.1404+17C>T
NM_006363.6(SEC23B):c.1404+20A>G
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1405-15C>T
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu) rs752548887
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) rs748683808
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
NM_006363.6(SEC23B):c.1511+18C>T
NM_006363.6(SEC23B):c.1511+21_1511+24del
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1512-11G>A
NM_006363.6(SEC23B):c.1512-16A>G
NM_006363.6(SEC23B):c.1512-19C>A
NM_006363.6(SEC23B):c.1512-5G>A
NM_006363.6(SEC23B):c.1512-7T>C
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu) rs535355543
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
NM_006363.6(SEC23B):c.1665+14A>G
NM_006363.6(SEC23B):c.1665+17G>A
NM_006363.6(SEC23B):c.1665+20A>T
NM_006363.6(SEC23B):c.1665+4A>G
NM_006363.6(SEC23B):c.1666-16T>G
NM_006363.6(SEC23B):c.1666-3T>C
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
NM_006363.6(SEC23B):c.1743+20A>G
NM_006363.6(SEC23B):c.1744-10G>C
NM_006363.6(SEC23B):c.1744-14del
NM_006363.6(SEC23B):c.1744-16T>C
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.1744-18C>T
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
NM_006363.6(SEC23B):c.1905+10dup
NM_006363.6(SEC23B):c.1905+12C>T
NM_006363.6(SEC23B):c.1905+16A>G
NM_006363.6(SEC23B):c.1905+1G>A
NM_006363.6(SEC23B):c.1905+8T>C
NM_006363.6(SEC23B):c.1905+8T>G
NM_006363.6(SEC23B):c.1905+9C>A
NM_006363.6(SEC23B):c.1906-11T>C
NM_006363.6(SEC23B):c.1906-12_1906-9del
NM_006363.6(SEC23B):c.1906-18C>G
NM_006363.6(SEC23B):c.1906-18C>T
NM_006363.6(SEC23B):c.1906-18_1906-14del
NM_006363.6(SEC23B):c.1906-19TC[2]
NM_006363.6(SEC23B):c.1906-19TC[3]
NM_006363.6(SEC23B):c.1906-7T>C
NM_006363.6(SEC23B):c.1906-8_1906-7del
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
NM_006363.6(SEC23B):c.1992+14ATTA[2]
NM_006363.6(SEC23B):c.1992+15_1992+17del
NM_006363.6(SEC23B):c.1992+17A>G
NM_006363.6(SEC23B):c.1992+8G>A
NM_006363.6(SEC23B):c.1992+8_1992+10del
NM_006363.6(SEC23B):c.1993-18T>C
NM_006363.6(SEC23B):c.1993-20G>A
NM_006363.6(SEC23B):c.1993-6G>C
NM_006363.6(SEC23B):c.1993-7T>C
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr) rs2059977778
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
NM_006363.6(SEC23B):c.211A>C (p.Asn71His) rs2059977897
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
NM_006363.6(SEC23B):c.2148+10C>T
NM_006363.6(SEC23B):c.2148+17C>G
NM_006363.6(SEC23B):c.2148+7G>A
NM_006363.6(SEC23B):c.2149-12T>C
NM_006363.6(SEC23B):c.2149-13G>C
NM_006363.6(SEC23B):c.2149-19G>T
NM_006363.6(SEC23B):c.2149-21TTG[4] rs746737770
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=) rs1600281875
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
NM_006363.6(SEC23B):c.221+10C>G
NM_006363.6(SEC23B):c.221+163A>G
NM_006363.6(SEC23B):c.221+1G>A
NM_006363.6(SEC23B):c.221+31A>T
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
NM_006363.6(SEC23B):c.2214+10C>A
NM_006363.6(SEC23B):c.2214+13_2214+14del
NM_006363.6(SEC23B):c.2214+14del
NM_006363.6(SEC23B):c.2214+15G>A
NM_006363.6(SEC23B):c.2214+15G>T
NM_006363.6(SEC23B):c.2215-18T>C
NM_006363.6(SEC23B):c.2215-19C>T
NM_006363.6(SEC23B):c.2215-9A>G
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.222-15T>A
NM_006363.6(SEC23B):c.222-17_222-15del
NM_006363.6(SEC23B):c.222-19_222-17del
NM_006363.6(SEC23B):c.222-4A>G
NM_006363.6(SEC23B):c.222-7C>G
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn) rs2122200225
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=) rs748290215
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
NM_006363.6(SEC23B):c.279+13T>A
NM_006363.6(SEC23B):c.279+17T>A
NM_006363.6(SEC23B):c.279+1G>A
NM_006363.6(SEC23B):c.280-10T>C
NM_006363.6(SEC23B):c.280-11C>T
NM_006363.6(SEC23B):c.280-12C>G
NM_006363.6(SEC23B):c.280-12C>T
NM_006363.6(SEC23B):c.280-13T>G
NM_006363.6(SEC23B):c.280-20_280-14del
NM_006363.6(SEC23B):c.280-8_280-6del
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
NM_006363.6(SEC23B):c.366+11T>C
NM_006363.6(SEC23B):c.366+13T>A
NM_006363.6(SEC23B):c.366+15G>C
NM_006363.6(SEC23B):c.366+17G>A
NM_006363.6(SEC23B):c.366+18C>T
NM_006363.6(SEC23B):c.366+1G>A
NM_006363.6(SEC23B):c.367-1G>T
NM_006363.6(SEC23B):c.367-8G>C
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr) rs2060116077
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
NM_006363.6(SEC23B):c.528T>C (p.His176=)
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
NM_006363.6(SEC23B):c.546A>T (p.Gly182=) rs1347919581
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
NM_006363.6(SEC23B):c.603+10T>C
NM_006363.6(SEC23B):c.603+12A>G
NM_006363.6(SEC23B):c.604-10T>G
NM_006363.6(SEC23B):c.604-11_604-10insC
NM_006363.6(SEC23B):c.604-19T>G
NM_006363.6(SEC23B):c.604-20T>C
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6T>C
NM_006363.6(SEC23B):c.604-6_604-4del
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
NM_006363.6(SEC23B):c.689+14A>T
NM_006363.6(SEC23B):c.689+19G>T
NM_006363.6(SEC23B):c.689+1G>C
NM_006363.6(SEC23B):c.689+1G>T
NM_006363.6(SEC23B):c.689+7G>T
NM_006363.6(SEC23B):c.689+8C>T
NM_006363.6(SEC23B):c.689+9C>A
NM_006363.6(SEC23B):c.690-17C>T
NM_006363.6(SEC23B):c.690-4_690-3dup
NM_006363.6(SEC23B):c.690-7C>G
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
NM_006363.6(SEC23B):c.708C>A (p.His236Gln) rs748683327
NM_006363.6(SEC23B):c.708C>T (p.His236=)
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln) rs148239360
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile) rs747388303
NM_006363.6(SEC23B):c.834+14T>C rs2148899499
NM_006363.6(SEC23B):c.834+17C>G
NM_006363.6(SEC23B):c.834+17C>T
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
NM_006363.6(SEC23B):c.993+11T>C
NM_006363.6(SEC23B):c.993+14G>A
NM_006363.6(SEC23B):c.993+15G>C
NM_006363.6(SEC23B):c.993+8C>G
NM_006363.6(SEC23B):c.993+8C>T
NM_006363.6(SEC23B):c.994-10C>G
NM_006363.6(SEC23B):c.994-13C>G
NM_006363.6(SEC23B):c.994-189T>A
NM_006363.6(SEC23B):c.994-189T>C
NM_006363.6(SEC23B):c.994-19A>G
NM_006363.6(SEC23B):c.994-20T>A
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
NM_006563.5(KLF1):c.*291A>G rs531279487
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser) rs1970419176
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys) rs1232742005
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr) rs1970432271
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) rs387907598
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_016123.4(IRAK4):c.161+1G>A
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338
NM_138477.4(CDAN1):c.*174G>C rs2061494783
NM_138477.4(CDAN1):c.*249GTTT[1] rs767935615
NM_138477.4(CDAN1):c.*539C>T rs1314999197
NM_138477.4(CDAN1):c.*600A>G rs886051155
NM_138477.4(CDAN1):c.*641G>T rs2061489811
NM_138477.4(CDAN1):c.*657A>G rs752891192
NM_138477.4(CDAN1):c.*680C>G rs965392126
NM_138477.4(CDAN1):c.*687G>C rs1245688161
NM_138477.4(CDAN1):c.*731C>A rs2061488733
NM_138477.4(CDAN1):c.*775AACA[1] rs531320636
NM_138477.4(CDAN1):c.*788G>T rs886051154
NM_138477.4(CDAN1):c.*827A>G rs573659922
NM_138477.4(CDAN1):c.*896T>C rs2061486806
NM_138477.4(CDAN1):c.*94T>C rs2061495632
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val) rs886051158
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3]) rs778227051
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1740-10T>A rs886051157
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly) rs778169314
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu) rs2061603986
NM_138477.4(CDAN1):c.201G>T (p.Gln67His) rs2061692835
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser) rs2061599288
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro) rs747975571
NM_138477.4(CDAN1):c.2439G>A (p.Val813=) rs2061577795
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser) rs1193351243
NM_138477.4(CDAN1):c.2542-3C>G rs201401533
NM_138477.4(CDAN1):c.255G>A (p.Arg85=) rs886051159
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu) rs1442095399
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp) rs746216798
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs) rs1296421769
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met) rs370895637
NM_138477.4(CDAN1):c.2645+2dup
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg) rs1051388342
NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn) rs2140513573
NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)
NM_138477.4(CDAN1):c.2833G>T (p.Val945Leu) rs756449578
NM_138477.4(CDAN1):c.2852_2853del (p.Glu951fs) rs2140471687
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
NM_138477.4(CDAN1):c.2868+4C>T rs749746339
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu) rs146289653
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3205-5C>A rs772939236
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.333C>T (p.Ala111=) rs1320661924
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)
NM_138477.4(CDAN1):c.639C>G (p.Thr213=)
NM_138477.4(CDAN1):c.688G>A (p.Ala230Thr)
NM_138477.4(CDAN1):c.773+14G>A rs543228844
NM_138477.4(CDAN1):c.774-3T>C rs756901380
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)
NM_173469.4(UBE2Q2):c.884+2293G>A

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