ClinVar Miner

List of variants studied for inborn disorder of cobalamin metabolism and transport

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8599
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.63034
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.58164
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.58162
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_052845.4(MMAB):c.*1230G>T rs11067231 0.57792
NM_052845.4(MMAB):c.*857G>C rs877710 0.57567
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_172250.3(MMAA):c.*2608T>C rs7699187 0.51441
NM_172250.3(MMAA):c.*2768A>T rs7699166 0.51403
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_052845.4(MMAB):c.*2701G>C rs2241201 0.33323
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_001062.4(TCN1):c.846C>T (p.Ser282=) rs1042613 0.29591
NM_172250.3(MMAA):c.734-74G>A rs11721510 0.28813
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_052845.4(MMAB):c.*3148G>A rs11067227 0.24433
NM_052845.4(MMAB):c.*625G>C rs11067233 0.24420
NM_052845.4(MMAB):c.*891C>A rs877709 0.24416
NM_172250.3(MMAA):c.*2866A>G rs17020500 0.22820
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_052845.4(MMAB):c.*1535G>A rs34921355 0.17160
NM_052845.4(MMAB):c.*2835T>C rs12817689 0.17090
NM_052845.4(MMAB):c.*2684G>C rs35145546 0.16925
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15769
NM_016579.4(CD320):c.23A>G (p.Gln8Arg) rs2232775 0.15598
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13762
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13702
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_000355.4(TCN2):c.941-21G>A rs2283873 0.12200
NM_016579.4(CD320):c.268+19T>G rs2232780 0.12049
NM_016579.4(CD320):c.447G>T (p.Thr149=) rs2232783 0.12037
NM_016579.4(CD320):c.483C>T (p.Ser161=) rs2232784 0.12037
NM_016579.4(CD320):c.658G>A (p.Gly220Arg) rs2336573 0.12012
NM_016579.4(CD320):c.837C>G (p.Thr279=) rs2227289 0.11348
NM_052845.4(MMAB):c.*1467C>T rs1061440 0.10807
NM_052845.4(MMAB):c.*192T>C rs8228 0.10802
NM_052845.4(MMAB):c.*1952T>C rs61940463 0.10789
NM_052845.4(MMAB):c.*1810G>A rs73414076 0.10702
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) rs34324219 0.09123
NM_052845.4(MMAB):c.*721T>G rs11831226 0.09002
NM_016579.4(CD320):c.707-15A>T rs250511 0.08768
NM_052845.4(MMAB):c.*378T>A rs66497319 0.08528
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07555
NM_172250.3(MMAA):c.*3621G>A rs55770806 0.07335
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_005050.4(ABCD4):c.1560-12A>C rs74061802 0.06985
NM_005050.4(ABCD4):c.668+7C>T rs61757464 0.06982
NM_005050.4(ABCD4):c.1636+10C>T rs74061801 0.06981
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534 0.06974
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976 0.06972
NM_005050.4(ABCD4):c.815-13G>C rs74063815 0.06964
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000 0.06963
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_052845.4(MMAB):c.*656C>A rs11067232 0.06631
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_052845.4(MMAB):c.*1729A>C rs559163901 0.06277
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_052845.4(MMAB):c.*376T>A rs527861371 0.05729
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_052845.4(MMAB):c.*1005A>G rs67432283 0.05428
NM_052845.4(MMAB):c.*1409G>A rs72650177 0.05424
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_052845.4(MMAB):c.*1657G>A rs111869218 0.05172
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_001081.4(CUBN):c.2792-18T>A rs10904871 0.05019
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_016579.4(CD320):c.142+10G>C rs2232776 0.04348
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_172250.3(MMAA):c.*2142T>C rs72723824 0.03954
NM_172250.3(MMAA):c.*2658G>A rs72723825 0.03953
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_172250.3(MMAA):c.*306T>A rs74409983 0.03738
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_001062.4(TCN1):c.104G>A (p.Arg35His) rs34528912 0.03247
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_172250.3(MMAA):c.*3285G>A rs142885287 0.03017
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_172250.3(MMAA):c.*2364A>G rs13129907 0.02803
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_052845.4(MMAB):c.*3178C>A rs73414071 0.02490
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_052845.4(MMAB):c.*2628C>T rs73414074 0.02477
NM_052845.4(MMAB):c.*564G>C rs56760240 0.02466
NM_052845.4(MMAB):c.*374T>A rs549601416 0.02435
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_172250.3(MMAA):c.*2372T>A rs74719174 0.02233
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_052845.4(MMAB):c.*380A>T rs74967596 0.01505
NM_172250.3(MMAA):c.*434C>T rs72950841 0.01492
NM_172250.3(MMAA):c.*3824C>A rs72950842 0.01396
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_172250.3(MMAA):c.*4336A>G rs138752110 0.01347
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_016579.4(CD320):c.769G>A (p.Glu257Lys) rs2232786 0.01308
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_172250.3(MMAA):c.*1782A>G rs114134771 0.01301
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_001062.4(TCN1):c.172del (p.Val58fs) rs34530014 0.01044
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NC_000012.12:g.109573660G>A rs66486014 0.00733
NM_016579.4(CD320):c.522G>T (p.Pro174=) rs79658260 0.00731
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822 0.00711
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_052845.4(MMAB):c.349-17T>C rs72650187 0.00583
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827 0.00580
NM_001062.4(TCN1):c.401-9C>T rs66980105 0.00579
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001081.4(CUBN):c.657G>A (p.Gly219=) rs142553474 0.00566
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00564
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_001062.4(TCN1):c.925G>A (p.Val309Ile) rs72550758 0.00549
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429 0.00514
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_172250.3(MMAA):c.*2807C>T rs7675466 0.00480
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
NM_172250.3(MMAA):c.*541A>G rs114729477 0.00424
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_172250.3(MMAA):c.*1966C>T rs147742767 0.00337
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_016579.4(CD320):c.143-11C>T rs116345590 0.00321
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_052845.4(MMAB):c.*3295C>T rs144430513 0.00304
NM_172250.3(MMAA):c.*4326A>T rs182426004 0.00304
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_052845.4(MMAB):c.*1088A>T rs142486697 0.00303
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001081.4(CUBN):c.8411-14T>C rs141775273 0.00287
NM_172250.3(MMAA):c.*1610C>T rs185925141 0.00285
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_030943.4(AMN):c.843+12G>A rs140902778 0.00278
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_001062.4(TCN1):c.1000A>G (p.Ile334Val) rs142805308 0.00272
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_001081.4(CUBN):c.10033-17C>T rs188241873 0.00271
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_016579.4(CD320):c.840G>A (p.Ser280=) rs2232787 0.00264
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849 0.00262
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_001062.4(TCN1):c.653G>T (p.Ser218Ile) rs75927196 0.00258
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_052845.4(MMAB):c.*2186T>C rs147647465 0.00246
NM_052845.4(MMAB):c.*1685G>A rs117011771 0.00244
NM_172250.3(MMAA):c.*4533C>T rs114762906 0.00244
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_052845.4(MMAB):c.*404T>G rs148289390 0.00240
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00226
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_030943.4(AMN):c.208-16C>T rs202004969 0.00214
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_030943.4(AMN):c.843+11C>T rs369361298 0.00210
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) rs146071220 0.00203
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) rs80308930 0.00182
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_172250.3(MMAA):c.*97G>C rs148424051 0.00178
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_172250.3(MMAA):c.*3325C>T rs529131828 0.00170
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_172250.3(MMAA):c.-66+10G>C rs546775043 0.00165
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_001081.4(CUBN):c.1417+20T>C rs181536212 0.00156
NM_172250.3(MMAA):c.*1988A>T rs141116337 0.00156
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.-98T>G rs370882214 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_172250.3(MMAA):c.*188A>G rs886059091 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00148
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00146
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189 0.00143
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_005142.3(CBLIF):c.872-8C>A rs200571955 0.00138
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_172250.3(MMAA):c.*3035A>C rs576544645 0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_052845.4(MMAB):c.-4G>C rs372195202 0.00134
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_000355.4(TCN2):c.*381T>G rs149713328 0.00128
NM_016579.4(CD320):c.745C>T (p.Leu249Phe) rs115054912 0.00126
NM_001081.4(CUBN):c.1947+9T>A rs376950340 0.00125
NM_001081.4(CUBN):c.2792-6C>G rs185269080 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_001081.4(CUBN):c.348+17C>T rs200466568 0.00114
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His) rs140862613 0.00111
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00108
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala) rs188342700 0.00104
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145 0.00096
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.9204C>T (p.Ile3068=) rs117755237 0.00091
NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile) rs117400821 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) rs141489700 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_030943.4(AMN):c.275C>T (p.Ser92Leu) rs144707331 0.00079
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) rs151197305 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_172250.3(MMAA):c.*192G>A rs188845060 0.00078
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078 0.00077
NM_001081.4(CUBN):c.3G>T (p.Met1Ile) rs11254385 0.00076
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445 0.00075
NM_172250.3(MMAA):c.*1952T>C rs79927727 0.00074
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309 0.00072
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) rs139090732 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_000355.4(TCN2):c.427+17C>T rs187924928 0.00066
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) rs141819241 0.00063
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00063
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_015702.3(MMADHC):c.741A>G (p.Glu247=) rs146820547 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300 0.00059
NM_016579.4(CD320):c.438T>C (p.Ile146=) rs146218039 0.00059
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_001062.4(TCN1):c.1181C>A (p.Ala394Asp) rs538179287 0.00057
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_000355.4(TCN2):c.90G>A (p.Leu30=) rs576996415 0.00056
NM_001062.4(TCN1):c.343G>A (p.Asp115Asn) rs35287646 0.00056
NM_002454.3(MTRR):c.1058-16G>A rs201644712 0.00056
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835 0.00056
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr) rs147447600 0.00055
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met) rs138989259 0.00054
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp) rs374992877 0.00053
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_001062.4(TCN1):c.1221A>C (p.Gly407=) rs571111927 0.00052
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_016579.4(CD320):c.722G>A (p.Ser241Asn) rs140803270 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459 0.00050
NM_052845.4(MMAB):c.*3265A>G rs776804847 0.00050
NM_001062.4(TCN1):c.855C>T (p.Asn285=) rs72550759 0.00049
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_172250.3(MMAA):c.*3254A>C rs539831571 0.00048
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_005050.4(ABCD4):c.425+13A>G rs370752716 0.00046
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) rs201871926 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_001081.4(CUBN):c.2929T>C (p.Phe977Leu) rs142292210 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly) rs199762141 0.00044
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_030943.4(AMN):c.928G>A (p.Val310Met) rs201788173 0.00043
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328 0.00041
NM_005050.4(ABCD4):c.1118+9C>T rs370581068 0.00041
NM_001062.4(TCN1):c.450C>T (p.Asp150=) rs139772818 0.00040
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_172250.3(MMAA):c.*4103G>A rs191381122 0.00040
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_052845.4(MMAB):c.*961G>A rs541447661 0.00039
NM_172250.3(MMAA):c.*2562C>T rs529092235 0.00039
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_001081.4(CUBN):c.9236+8A>G rs372673718 0.00038
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=) rs138862492 0.00038
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_001081.4(CUBN):c.8593G>A (p.Val2865Met) rs146847375 0.00037
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801 0.00037
NM_172250.3(MMAA):c.*342A>G rs886059093 0.00037
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=) rs182162293 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00035
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp) rs146463364 0.00034
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr) rs150594251 0.00034
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_001062.4(TCN1):c.879C>T (p.Ala293=) rs143457374 0.00033
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_001062.4(TCN1):c.924C>T (p.Cys308=) rs146250932 0.00032
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001081.4(CUBN):c.791G>C (p.Arg264Thr) rs144440300 0.00032
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly) rs145807876 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_005050.4(ABCD4):c.1637-10G>A rs201148020 0.00030
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247 0.00030
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp) rs151134377 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu) rs142696207 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_172250.3(MMAA):c.*2139A>G rs772671304 0.00029
NM_000355.4(TCN2):c.257+16C>G rs369577877 0.00028
NM_001062.4(TCN1):c.776A>G (p.Asn259Ser) rs139595894 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181 0.00028
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_001062.4(TCN1):c.1241-9C>T rs376946665 0.00027
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331 0.00027
NM_005142.3(CBLIF):c.1074-10T>C rs375549830 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_172250.3(MMAA):c.*1584A>G rs530538534 0.00027
NM_172250.3(MMAA):c.*177A>G rs572996882 0.00027
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) rs201901663 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro) rs142651651 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_001062.4(TCN1):c.358G>A (p.Asp120Asn) rs80072840 0.00026
NM_001062.4(TCN1):c.980C>G (p.Pro327Arg) rs36044892 0.00026
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00026
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_001081.4(CUBN):c.9927C>G (p.Val3309=) rs202234356 0.00024
NM_016579.4(CD320):c.478G>A (p.Asp160Asn) rs188158114 0.00024
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673 0.00023
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693 0.00023
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_018368.4(LMBRD1):c.1510-17C>T rs149064101 0.00022
NM_000254.3(MTR):c.1215G>A (p.Gln405=) rs376048659 0.00021
NM_000355.4(TCN2):c.249C>T (p.Cys83=) rs151327362 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu) rs140983139 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_016579.4(CD320):c.759C>T (p.Leu253=) rs200607555 0.00021
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.639T>C (p.Phe213=) rs568734591 0.00020
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser) rs143835350 0.00020
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_005334.3(HCFC1):c.4942+8C>T rs1013019333 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_016579.4(CD320):c.378C>T (p.Asn126=) rs144097701 0.00020
NM_052845.4(MMAB):c.*3142G>A rs747166756 0.00020
NM_172250.3(MMAA):c.*2471G>A rs886059106 0.00020
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000355.4(TCN2):c.*405T>C rs539828054 0.00019
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_001062.4(TCN1):c.357C>T (p.Ile119=) rs144166853 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln) rs199986349 0.00019
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=) rs138753274 0.00019
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
NM_005142.3(CBLIF):c.964C>T (p.Leu322=) rs142491344 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) rs201807738 0.00019
NM_000355.4(TCN2):c.258-16A>G rs374013099 0.00018
NM_000355.4(TCN2):c.572A>G (p.His191Arg) rs151172486 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_016579.4(CD320):c.285C>T (p.Thr95=) rs181066013 0.00018
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_000355.4(TCN2):c.940+11T>C rs202139921 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.10181-16C>A rs190546478 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135 0.00017
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) rs201714172 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_016579.4(CD320):c.374G>A (p.Arg125His) rs375310833 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_052845.4(MMAB):c.*2503G>A rs886048916 0.00017
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_000254.3(MTR):c.13C>A (p.Leu5Ile) rs139083778 0.00016
NM_000254.3(MTR):c.3252C>T (p.Asp1084=) rs144429636 0.00016
NM_000254.3(MTR):c.3405+18C>T rs374485228 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687 0.00016
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val) rs149139488 0.00016
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=) rs201456625 0.00016
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306 0.00016
NM_016579.4(CD320):c.35G>T (p.Trp12Leu) rs763898394 0.00016
NM_016579.4(CD320):c.41C>T (p.Thr14Ile) rs374551944 0.00016
NM_016579.4(CD320):c.772C>T (p.Arg258Cys) rs146190802 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu) rs777560818 0.00016
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000254.3(MTR):c.2474-19_2474-15del rs781239294 0.00014
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr) rs778150805 0.00014
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_005050.4(ABCD4):c.719+6T>C rs755014125 0.00014
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=) rs372258214 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_030943.4(AMN):c.1086G>A (p.Ala362=) rs959195796 0.00014
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772 0.00014
NM_000254.3(MTR):c.2043+10A>G rs375005444 0.00013
NM_000254.3(MTR):c.2405+13C>T rs761948163 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_000254.3(MTR):c.35-19A>G rs372886393 0.00013
NM_000355.4(TCN2):c.428-15T>C rs371761297 0.00013
NM_000355.4(TCN2):c.580+16C>T rs200683293 0.00013
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu) rs142553702 0.00013
NM_001062.4(TCN1):c.1262G>A (p.Arg421His) rs189696084 0.00013
NM_001062.4(TCN1):c.337A>G (p.Ile113Val) rs199557500 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys) rs139369652 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321 0.00013
NM_005050.4(ABCD4):c.867C>T (p.Ile289=) rs138775118 0.00013
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_016579.4(CD320):c.773G>A (p.Arg258His) rs143156732 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) rs140727621 0.00013
NM_052845.4(MMAB):c.*2053C>T rs545623412 0.00013
NM_172250.3(MMAA):c.-69G>T rs886059086 0.00013
NM_000355.4(TCN2):c.*18C>T rs371703966 0.00012
NM_000355.4(TCN2):c.500A>T (p.His167Leu) rs200303429 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_005142.3(CBLIF):c.*87G>A rs575272147 0.00012
NM_005142.3(CBLIF):c.79+3G>A rs146396839 0.00012
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_052845.4(MMAB):c.*1482C>T rs576738108 0.00012
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_172250.3(MMAA):c.*1425C>T rs529476650 0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His) rs148142853 0.00012
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000254.3(MTR):c.2658G>A (p.Ala886=) rs142537384 0.00011
NM_000254.3(MTR):c.3204+9G>A rs769109539 0.00011
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_001062.4(TCN1):c.730A>G (p.Thr244Ala) rs147942868 0.00011
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.1947+18G>A rs374436643 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_002454.3(MTRR):c.198C>T (p.Pro66=) rs776410065 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983 0.00011
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_005142.3(CBLIF):c.750G>A (p.Thr250=) rs377432418 0.00011
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=) rs182541172 0.00011
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) rs1273500868 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_016579.4(CD320):c.269-13C>A rs200852300 0.00011
NM_018368.4(LMBRD1):c.1189-15C>G rs774156278 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_052845.4(MMAB):c.*1689C>T rs886093880 0.00011
NM_052845.4(MMAB):c.*3074C>T rs186602321 0.00011
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142 0.00011
NM_172250.3(MMAA):c.*942A>G rs886059096 0.00011
NM_172250.3(MMAA):c.440-17A>T rs373100355 0.00011
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) rs201701227 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.2177G>A (p.Gly726Glu) rs767277942 0.00010
NM_001081.4(CUBN):c.3084C>T (p.Ser1028=) rs775668389 0.00010
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn) rs543983858 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966 0.00010
NM_001081.4(CUBN):c.7000+14T>A rs768710639 0.00010
NM_001081.4(CUBN):c.7211-17T>C rs770229291 0.00010
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) rs201002903 0.00010
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.904-19dup rs1554003810 0.00010
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495 0.00010
NM_005050.4(ABCD4):c.756G>A (p.Arg252=) rs149632647 0.00010
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_016579.4(CD320):c.405C>T (p.Gly135=) rs372005633 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00010
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_052845.4(MMAB):c.*509C>T rs886048923 0.00010
NM_000254.3(MTR):c.2013C>T (p.Val671=) rs147141232 0.00009
NM_000254.3(MTR):c.2686C>T (p.Leu896=) rs147762307 0.00009
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_000355.4(TCN2):c.*520T>C rs953408654 0.00009
NM_000355.4(TCN2):c.1056G>A (p.Gly352=) rs370869901 0.00009
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly) rs145474456 0.00009
NM_000355.4(TCN2):c.427+18G>A rs373712632 0.00009
NM_000355.4(TCN2):c.883G>A (p.Val295Ile) rs770684965 0.00009
NM_001062.4(TCN1):c.1121+9G>A rs370054474 0.00009
NM_001062.4(TCN1):c.683T>C (p.Ile228Thr) rs143824687 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg) rs147955566 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.3672+18A>C rs752240965 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met) rs537292240 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.495C>T (p.Gly165=) rs139333376 0.00009
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val) rs368445200 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968 0.00009
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) rs370251100 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=) rs782522290 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874 0.00009
NM_018368.4(LMBRD1):c.405+8T>C rs375415974 0.00009
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030943.4(AMN):c.345G>A (p.Pro115=) rs749947054 0.00009
NM_052845.4(MMAB):c.*301C>T rs1053960970 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_172250.3(MMAA):c.*2808G>A rs543019315 0.00009
NM_172250.3(MMAA):c.*4539T>G rs558703264 0.00009
NM_172250.3(MMAA):c.440-6C>T rs374784209 0.00009
NM_172250.3(MMAA):c.7A>G (p.Met3Val) rs527340737 0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys) rs374795215 0.00009
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000355.4(TCN2):c.210C>T (p.Asp70=) rs148829072 0.00008
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn) rs375193056 0.00008
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys) rs376839271 0.00008
NM_001062.4(TCN1):c.1241-7T>A rs372679225 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln) rs755862991 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr) rs368864485 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn) rs777692110 0.00008
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_002454.3(MTRR):c.1058-17C>T rs754619256 0.00008
NM_002454.3(MTRR):c.129+10G>A rs6413427 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) rs150005713 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) rs138504371 0.00008
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891 0.00008
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala) rs782762959 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876 0.00008
NM_015702.3(MMADHC):c.610-12C>A rs371855955 0.00008
NM_018368.4(LMBRD1):c.1188+17del rs538437940 0.00008
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_030943.4(AMN):c.1258-8C>T rs750073599 0.00008
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) rs142447736 0.00008
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252 0.00008
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=) rs777595935 0.00007
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.558C>T (p.Gly186=) rs139019399 0.00007
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=) rs375447234 0.00007
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr) rs763642038 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala) rs201138390 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002454.3(MTRR):c.519A>G (p.Ala173=) rs776844185 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_005050.4(ABCD4):c.1752+5C>T rs370270229 0.00007
NM_005050.4(ABCD4):c.425+6C>T rs368213518 0.00007
NM_005050.4(ABCD4):c.447C>T (p.Asp149=) rs143479125 0.00007
NM_005050.4(ABCD4):c.504G>A (p.Pro168=) rs753233201 0.00007
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) rs759872025 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015702.3(MMADHC):c.513C>G (p.Gly171=) rs373384350 0.00007
NM_016579.4(CD320):c.277C>T (p.Pro93Ser) rs377236965 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) rs150895111 0.00007
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056 0.00007
NM_172250.3(MMAA):c.733+13T>C rs768662983 0.00007
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892 0.00007
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.502+13C>T rs201647375 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000254.3(MTR):c.996-20T>C rs772967310 0.00006
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=) rs369589347 0.00006
NM_000355.4(TCN2):c.139C>A (p.Leu47Met) rs200833932 0.00006
NM_000355.4(TCN2):c.257+13T>A rs375247830 0.00006
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe) rs747887520 0.00006
NM_000355.4(TCN2):c.64+13C>T rs370228236 0.00006
NM_000355.4(TCN2):c.667A>G (p.Ile223Val) rs144889471 0.00006
NM_001062.4(TCN1):c.473A>G (p.Asn158Ser) rs200198188 0.00006
NM_001062.4(TCN1):c.954C>T (p.Ser318=) rs138846758 0.00006
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.1999A>G (p.Thr667Ala) rs141089159 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.3802C>T (p.Arg1268Cys) rs747558831 0.00006
NM_001081.4(CUBN):c.5092G>A (p.Gly1698Ser) rs201661017 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=) rs775837120 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1370+18C>T rs374485961 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_005050.4(ABCD4):c.1518G>A (p.Val506=) rs372838114 0.00006
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=) rs776137988 0.00006
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) rs771992791 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.1803+7G>A rs782241441 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_015506.3(MMACHC):c.*10A>G rs367574509 0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) rs569132013 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.510T>C (p.Asn170=) rs745423033 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_016579.4(CD320):c.143-4G>A rs371174438 0.00006
NM_016579.4(CD320):c.588C>G (p.Ala196=) rs776070970 0.00006
NM_016579.4(CD320):c.761G>A (p.Arg254Gln) rs369347295 0.00006
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) rs375328924 0.00006
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.637-13G>A rs776621535 0.00006
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) rs373241693 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) rs200712130 0.00006
NM_052845.4(MMAB):c.*1683G>A rs572832766 0.00006
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 0.00006
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00006
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn) rs925180956 0.00006
NM_172250.3(MMAA):c.*2645C>T rs568954220 0.00006
NM_172250.3(MMAA):c.*4228T>C rs533826043 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 0.00006
NM_172250.3(MMAA):c.850G>C (p.Asp284His) rs758654806 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 0.00006
NM_172250.3(MMAA):c.947G>A (p.Arg316His) rs377228966 0.00006
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.2235C>T (p.Gly745=) rs1453742538 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.3384G>A (p.Ala1128=) rs767454577 0.00005
NM_000254.3(MTR):c.759A>C (p.Pro253=) rs752365220 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000355.4(TCN2):c.-34A>G rs199511962 0.00005
NM_000355.4(TCN2):c.1053C>T (p.Ala351=) rs142555281 0.00005
NM_000355.4(TCN2):c.1272G>A (p.Leu424=) rs560391371 0.00005
NM_000355.4(TCN2):c.279C>T (p.Asp93=) rs138467610 0.00005
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639 0.00005
NM_000355.4(TCN2):c.428-2_428-1del rs955351335 0.00005
NM_000355.4(TCN2):c.857C>T (p.Ala286Val) rs149231407 0.00005
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser) rs149299209 0.00005
NM_001062.4(TCN1):c.99C>T (p.Tyr33=) rs376377467 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp) rs564637804 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser) rs144565631 0.00005
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=) rs779269108 0.00005
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=) rs751019710 0.00005
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=) rs376662992 0.00005
NM_001081.4(CUBN):c.9681T>A (p.Ser3227Arg) rs773439837 0.00005
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_005050.4(ABCD4):c.1028+5G>A rs533842238 0.00005
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173 0.00005
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) rs781810369 0.00005
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) rs1459988694 0.00005
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) rs782310209 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) rs767657325 0.00005
NM_018368.4(LMBRD1):c.474-20A>G rs952976480 0.00005
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811 0.00005
NM_030943.4(AMN):c.175C>T (p.Leu59=) rs199629027 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_052845.4(MMAB):c.*424G>A rs551461624 0.00005
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.44G>A (p.Arg15His) rs367711757 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_172250.3(MMAA):c.*3087A>G rs983988317 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659 0.00005
NM_172250.3(MMAA):c.1221A>G (p.Ala407=) rs767115507 0.00005
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_000254.3(MTR):c.1086C>G (p.Pro362=) rs779393795 0.00004
NM_000254.3(MTR):c.1128G>A (p.Glu376=) rs759636736 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2328G>T (p.Val776=) rs980038551 0.00004
NM_000254.3(MTR):c.2474-20T>A rs377347275 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000254.3(MTR):c.2718T>C (p.Phe906=) rs371962565 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.996-5C>T rs914525473 0.00004
NM_000355.3(TCN2):c.-191G>A rs886057394 0.00004
NM_000355.3(TCN2):c.-240G>A rs16988823 0.00004
NM_000355.4(TCN2):c.1089T>G (p.His363Gln) rs772074405 0.00004
NM_000355.4(TCN2):c.114C>T (p.Leu38=) rs377673954 0.00004
NM_000355.4(TCN2):c.225C>T (p.Ser75=) rs776322424 0.00004
NM_000355.4(TCN2):c.282T>C (p.Gly94=) rs766893729 0.00004
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) rs752901101 0.00004
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly) rs534564986 0.00004
NM_000355.4(TCN2):c.49C>G (p.Leu17Val) rs759462885 0.00004
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln) rs759762355 0.00004
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile) rs147738100 0.00004
NM_001062.4(TCN1):c.542G>A (p.Ser181Asn) rs145017990 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10282C>T (p.Pro3428Ser) rs117570588 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.2256C>T (p.His752=) rs140150973 0.00004
NM_001081.4(CUBN):c.258G>T (p.Gln86His) rs778278804 0.00004
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys) rs199835213 0.00004
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg) rs201443885 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg) rs147373223 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=) rs375723034 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5549-5C>T rs377583171 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys) rs149102355 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7107G>A (p.Gly2369=) rs145537365 0.00004
NM_001081.4(CUBN):c.7741A>C (p.Asn2581His) rs762764264 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8330A>G (p.Asn2777Ser) rs757561186 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.885C>T (p.Gly295=) rs776211726 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9555T>G (p.Cys3185Trp) rs746114034 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu) rs566296480 0.00004
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1095T>C (p.Ser365=) rs1490381537 0.00004
NM_002454.3(MTRR):c.1147-16G>A rs143842562 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.1362G>A (p.Ser454=) rs370978510 0.00004
NM_002454.3(MTRR):c.1557+18T>C rs367589908 0.00004
NM_002454.3(MTRR):c.1677-8C>T rs750976454 0.00004
NM_002454.3(MTRR):c.1677-9T>C rs200734299 0.00004
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) rs143418731 0.00004
NM_002454.3(MTRR):c.2073C>T (p.Arg691=) rs768387137 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.283+13C>G rs368391537 0.00004
NM_002454.3(MTRR):c.402-19G>A rs192942300 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys) rs374984401 0.00004
NM_005050.4(ABCD4):c.1327+8C>T rs199678602 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005050.4(ABCD4):c.1752+7G>A rs376322555 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548 0.00004
NM_005050.4(ABCD4):c.699G>A (p.Ala233=) rs139683556 0.00004
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met) rs181943870 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) rs782250826 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533 0.00004
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=) rs923295564 0.00004
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741 0.00004
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) rs1342469676 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_015506.3(MMACHC):c.125C>T (p.Pro42Leu) rs763226016 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847 0.00004
NM_015506.3(MMACHC):c.42C>T (p.Asp14=) rs141562335 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_016579.4(CD320):c.333C>T (p.Thr111=) rs540057476 0.00004
NM_016579.4(CD320):c.497G>T (p.Gly166Val) rs769438880 0.00004
NM_016579.4(CD320):c.657C>T (p.Ala219=) rs368089898 0.00004
NM_016579.4(CD320):c.760C>T (p.Arg254Ter) rs750760449 0.00004
NM_016579.4(CD320):c.88G>C (p.Gly30Arg) rs1314256093 0.00004
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His) rs150831620 0.00004
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) rs777374813 0.00004
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824 0.00004
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=) rs751525924 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) rs373481039 0.00004
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=) rs139154326 0.00004
NM_018368.4(LMBRD1):c.562+19A>T rs200488577 0.00004
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn) rs370829456 0.00004
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val) rs772119224 0.00004
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=) rs529198629 0.00004
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=) rs766287809 0.00004
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) rs1345352857 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) rs774698023 0.00004
NM_052845.4(MMAB):c.*2679G>C rs546327751 0.00004
NM_052845.4(MMAB):c.*588C>T rs1214904926 0.00004
NM_052845.4(MMAB):c.*815T>C rs776724872 0.00004
NM_052845.4(MMAB):c.168C>G (p.Pro56=) rs752857938 0.00004
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile) rs762404377 0.00004
NM_052845.4(MMAB):c.348+17C>T rs202141416 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) rs533819939 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00004
NM_052845.4(MMAB):c.52C>A (p.Leu18Met) rs374802787 0.00004
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_172250.3(MMAA):c.*1227A>T rs375194713 0.00004
NM_172250.3(MMAA):c.*1284G>A rs564976817 0.00004
NM_172250.3(MMAA):c.*2903C>T rs886059110 0.00004
NM_172250.3(MMAA):c.*3703T>C rs760429837 0.00004
NM_172250.3(MMAA):c.*4324G>A rs910534961 0.00004
NM_172250.3(MMAA):c.*890G>A rs771012374 0.00004
NM_172250.3(MMAA):c.-4G>A rs374109118 0.00004
NM_172250.3(MMAA):c.378A>G (p.Val126=) rs750237065 0.00004
NM_172250.3(MMAA):c.440-4G>A rs780768376 0.00004
NM_172250.3(MMAA):c.562+11C>T rs746737805 0.00004
NM_172250.3(MMAA):c.610A>G (p.Met204Val) rs370375675 0.00004
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln) rs375682603 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_000254.3(MTR):c.1275A>G (p.Pro425=) rs202147344 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2043+18G>C rs763911562 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2473+14A>G rs193210789 0.00003
NM_000254.3(MTR):c.2474-19_2474-18insA rs777429098 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.3135C>T (p.His1045=) rs775738419 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) rs767100856 0.00003
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014 0.00003
NM_000355.4(TCN2):c.1063G>A (p.Val355Met) rs780429477 0.00003
NM_000355.4(TCN2):c.1107-10C>T rs764096609 0.00003
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) rs781309237 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662 0.00003
NM_000355.4(TCN2):c.753+13C>A rs771453023 0.00003
NM_000355.4(TCN2):c.787C>G (p.Leu263Val) rs201848801 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_001062.4(TCN1):c.1005C>T (p.Ser335=) rs772525551 0.00003
NM_001062.4(TCN1):c.1225G>A (p.Glu409Lys) rs140632800 0.00003
NM_001062.4(TCN1):c.322G>A (p.Ala108Thr) rs757531697 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.10710A>G (p.Thr3570=) rs756639822 0.00003
NM_001081.4(CUBN):c.10764+1G>A rs374982220 0.00003
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=) rs146137990 0.00003
NM_001081.4(CUBN):c.1351G>A (p.Val451Ile) rs746956601 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.260A>G (p.Lys87Arg) rs754451499 0.00003
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser) rs567450170 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.4169-16C>T rs779680778 0.00003
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr) rs144132364 0.00003
NM_001081.4(CUBN):c.4739C>T (p.Thr1580Met) rs550619948 0.00003
NM_001081.4(CUBN):c.4773C>T (p.Val1591=) rs368529044 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=) rs368934375 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=) rs758743854 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.7026G>A (p.Gly2342=) rs370800945 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8465C>T (p.Pro2822Leu) rs776663892 0.00003
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=) rs748450206 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr) rs569915247 0.00003
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=) rs143405367 0.00003
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_002454.3(MTRR):c.1188T>C (p.Ala396=) rs763760088 0.00003
NM_002454.3(MTRR):c.1287C>T (p.Leu429=) rs551079367 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_002454.3(MTRR):c.402-20C>T rs565590605 0.00003
NM_005050.4(ABCD4):c.1028+9G>A rs982830151 0.00003
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln) rs747987460 0.00003
NM_005050.4(ABCD4):c.1422G>T (p.Val474=) rs763882047 0.00003
NM_005050.4(ABCD4):c.24C>G (p.Pro8=) rs371692280 0.00003
NM_005050.4(ABCD4):c.425+7G>A rs375608814 0.00003
NM_005142.3(CBLIF):c.1221C>T (p.His407=) rs148989677 0.00003
NM_005142.3(CBLIF):c.371-15C>T rs759810252 0.00003
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) rs886048402 0.00003
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) rs782036588 0.00003
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=) rs201614319 0.00003
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223 0.00003
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695 0.00003
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635 0.00003
NM_005334.3(HCFC1):c.504-9C>T rs781961920 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) rs1557112253 0.00003
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) rs369626014 0.00003
NM_015506.3(MMACHC):c.156A>G (p.Val52=) rs763931975 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_015506.3(MMACHC):c.831T>C (p.Pro277=) rs1322086708 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_016579.4(CD320):c.731C>T (p.Thr244Ile) rs557939985 0.00003
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) rs561540830 0.00003
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) rs771282181 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) rs759703455 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.507C>T (p.Ala169=) rs776916498 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 0.00003
NM_052845.4(MMAB):c.644+9G>A rs748589454 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_172250.3(MMAA):c.*1273C>T rs1001420347 0.00003
NM_172250.3(MMAA):c.*1940T>C rs1054381866 0.00003
NM_172250.3(MMAA):c.*3801A>G rs886059116 0.00003
NM_172250.3(MMAA):c.*4457A>G rs896375111 0.00003
NM_172250.3(MMAA):c.-71G>C rs992491091 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_172250.3(MMAA):c.563-12T>C rs199938583 0.00003
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234 0.00003
NM_172250.3(MMAA):c.970-5G>A rs370814663 0.00003
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1395G>A (p.Gly465=) rs372015549 0.00002
NM_000254.3(MTR):c.1434G>A (p.Glu478=) rs747176647 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.1953+7A>G rs777871271 0.00002
NM_000254.3(MTR):c.2109A>G (p.Arg703=) rs565935347 0.00002
NM_000254.3(MTR):c.259C>T (p.Leu87=) rs751808381 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2775+17G>T rs763995449 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.2910G>A (p.Val970=) rs769690083 0.00002
NM_000254.3(MTR):c.339+19C>T rs199843808 0.00002
NM_000254.3(MTR):c.3598+15G>A rs754129736 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.486G>A (p.Pro162=) rs747494979 0.00002
NM_000254.3(MTR):c.711C>T (p.Ser237=) rs775774568 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00002
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu) rs1017195499 0.00002
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe) rs761778896 0.00002
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe) rs572942248 0.00002
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser) rs746024609 0.00002
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) rs773473997 0.00002
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563 0.00002
NM_000355.4(TCN2):c.258-10C>T rs757142216 0.00002
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys) rs559879608 0.00002
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg) rs368757546 0.00002
NM_000355.4(TCN2):c.390G>A (p.Gln130=) rs565849474 0.00002
NM_000355.4(TCN2):c.568C>T (p.His190Tyr) rs757378346 0.00002
NM_000355.4(TCN2):c.65-8T>C rs773798398 0.00002
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp) rs754057087 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_000355.4(TCN2):c.753+8A>G rs778117023 0.00002
NM_000355.4(TCN2):c.846C>T (p.Ala282=) rs745306636 0.00002
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe) rs369458782 0.00002
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 0.00002
NM_000355.4(TCN2):c.944T>C (p.Met315Thr) rs764172898 0.00002
NM_000355.4(TCN2):c.999G>A (p.Thr333=) rs747578310 0.00002
NM_001062.4(TCN1):c.1114A>G (p.Ile372Val) rs367928670 0.00002
NM_001062.4(TCN1):c.140A>G (p.Asn47Ser) rs778331099 0.00002
NM_001062.4(TCN1):c.497T>C (p.Val166Ala) rs200554043 0.00002
NM_001062.4(TCN1):c.556+5G>A rs755195459 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.10136T>C (p.Val3379Ala) rs1239695630 0.00002
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser) rs780850360 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.1765+9G>A rs780944597 0.00002
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile) rs746111876 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) rs369417721 0.00002
NM_001081.4(CUBN):c.4034G>A (p.Arg1345Gln) rs377486978 0.00002
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=) rs563089365 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser) rs368261414 0.00002
NM_001081.4(CUBN):c.6125-5C>T rs767744034 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.7218C>A (p.Ile2406=) rs369069102 0.00002
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) rs557208468 0.00002
NM_001081.4(CUBN):c.7534-5A>G rs769047632 0.00002
NM_001081.4(CUBN):c.8017G>A (p.Glu2673Lys) rs781304382 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001081.4(CUBN):c.9385C>T (p.Leu3129Phe) rs762293500 0.00002
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg) rs772196844 0.00002
NM_002454.3(MTRR):c.1057+9C>T rs752920631 0.00002
NM_002454.3(MTRR):c.1146+12T>C rs775452380 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.129+20A>T rs758051759 0.00002
NM_002454.3(MTRR):c.1317T>C (p.Ser439=) rs756279354 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1563C>T (p.Ser521=) rs757184514 0.00002
NM_002454.3(MTRR):c.1575A>C (p.Arg525=) rs369430052 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.1641C>T (p.Thr547=) rs1044675786 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1769+14C>T rs760216011 0.00002
NM_002454.3(MTRR):c.1773A>G (p.Lys591=) rs760394620 0.00002
NM_002454.3(MTRR):c.1959A>G (p.Ala653=) rs763202690 0.00002
NM_002454.3(MTRR):c.280C>T (p.Leu94=) rs1383637211 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_002454.3(MTRR):c.459T>C (p.His153=) rs1485372093 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys) rs771010169 0.00002
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=) rs757799492 0.00002
NM_005050.4(ABCD4):c.1559+20G>A rs572419384 0.00002
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346 0.00002
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=) rs761917106 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln) rs368694663 0.00002
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile) rs764251926 0.00002
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) rs767310648 0.00002
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=) rs150857406 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) rs782472950 0.00002
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) rs782517377 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435 0.00002
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=) rs1436495630 0.00002
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580 0.00002
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) rs782014460 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly) rs868914963 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) rs782399563 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) rs782560491 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023 0.00002
NM_005334.3(HCFC1):c.504-5G>A rs1362015008 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) rs781929046 0.00002
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) rs782385961 0.00002
NM_015506.3(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.105G>A (p.Leu35=) rs1415635839 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.354G>A (p.Gln118=) rs765769901 0.00002
NM_015506.3(MMACHC):c.414C>T (p.Asp138=) rs775173474 0.00002
NM_015506.3(MMACHC):c.429+14T>G rs371226986 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu) rs371004372 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.810C>T (p.Leu270=) rs778330842 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) rs1431992617 0.00002
NM_015702.3(MMADHC):c.537A>G (p.Thr179=) rs377571291 0.00002
NM_015702.3(MMADHC):c.615C>T (p.Ile205=) rs986210972 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_016579.4(CD320):c.126C>T (p.Thr42=) rs551205813 0.00002
NM_016579.4(CD320):c.318C>T (p.Leu106=) rs369646365 0.00002
NM_018368.4(LMBRD1):c.1188+7A>T rs375681915 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) rs1340799992 0.00002
NM_018368.4(LMBRD1):c.1418-16T>C rs753105951 0.00002
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=) rs944285630 0.00002
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val) rs775365046 0.00002
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=) rs368494826 0.00002
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) rs376076271 0.00002
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867 0.00002
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln) rs747354714 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) rs1339571276 0.00002
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) rs200648108 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_052845.4(MMAB):c.*1747A>G rs886048917 0.00002
NM_052845.4(MMAB):c.*2619A>T rs778528128 0.00002
NM_052845.4(MMAB):c.*2783G>A rs1012338830 0.00002
NM_052845.4(MMAB):c.*2890C>T rs1005573398 0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_052845.4(MMAB):c.618T>C (p.Asp206=) rs1461731163 0.00002
NM_052845.4(MMAB):c.644+8C>T rs770159367 0.00002
NM_052845.4(MMAB):c.645-6C>T rs766039550 0.00002
NM_052845.4(MMAB):c.685A>G (p.Met229Val) rs371960953 0.00002
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) rs767706407 0.00002
NM_172250.3(MMAA):c.*152A>G rs749564150 0.00002
NM_172250.3(MMAA):c.*1918G>A rs755382235 0.00002
NM_172250.3(MMAA):c.*3222T>C rs886059112 0.00002
NM_172250.3(MMAA):c.1059G>A (p.Gly353=) rs552250080 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_172250.3(MMAA):c.1140G>A (p.Arg380=) rs1209585004 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) rs772082690 0.00002
NM_172250.3(MMAA):c.585C>T (p.Thr195=) rs571797666 0.00002
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu) rs746853773 0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_172250.3(MMAA):c.970-6C>T rs774402841 0.00002
NM_000254.3(MTR):c.1071G>A (p.Leu357=) rs771474135 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.1076-16T>C rs1363188046 0.00001
NM_000254.3(MTR):c.108G>A (p.Gly36=) rs1057523951 0.00001
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1311C>T (p.Ser437=) rs777192214 0.00001
NM_000254.3(MTR):c.1329+15A>G rs752303010 0.00001
NM_000254.3(MTR):c.1425G>A (p.Lys475=) rs1464958347 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1566G>C (p.Leu522=) rs779536088 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1695+15G>A rs750838511 0.00001
NM_000254.3(MTR):c.1743C>T (p.Ser581=) rs758784869 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2446C>T (p.Leu816=) rs1458770538 0.00001
NM_000254.3(MTR):c.2454T>C (p.Ala818=) rs769066955 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) rs989945025 0.00001
NM_000254.3(MTR):c.2775+19T>C rs1416410897 0.00001
NM_000254.3(MTR):c.2776-16C>T rs770223976 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3315T>C (p.Phe1105=) rs1221565565 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.34+10C>T rs376679817 0.00001
NM_000254.3(MTR):c.34+13C>A rs370004550 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) rs750050502 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.444G>A (p.Pro148=) rs778868012 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.669+11A>C rs773271317 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
NM_000355.4(TCN2):c.*329G>A rs779850312 0.00001
NM_000355.4(TCN2):c.*37C>T rs531866634 0.00001
NM_000355.4(TCN2):c.*383C>T rs896720175 0.00001
NM_000355.4(TCN2):c.-67C>T rs1432247695 0.00001
NM_000355.4(TCN2):c.1062C>T (p.Thr354=) rs770733287 0.00001
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro) rs1237571997 0.00001
NM_000355.4(TCN2):c.1086C>G (p.Ala362=) rs553587653 0.00001
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000355.4(TCN2):c.1106+1G>A rs766478911 0.00001
NM_000355.4(TCN2):c.1107-4G>A rs1485846164 0.00001
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val) rs2087720823 0.00001
NM_000355.4(TCN2):c.1150G>A (p.Val384Met) rs144166182 0.00001
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val) rs774428161 0.00001
NM_000355.4(TCN2):c.1167C>T (p.Ala389=) rs369722707 0.00001
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153 0.00001
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser) rs749591278 0.00001
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val) rs371229602 0.00001
NM_000355.4(TCN2):c.1230T>C (p.Ala410=) rs1391122960 0.00001
NM_000355.4(TCN2):c.1233C>T (p.Asp411=) rs931753951 0.00001
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln) rs770055978 0.00001
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482 0.00001
NM_000355.4(TCN2):c.257+8C>T rs747963904 0.00001
NM_000355.4(TCN2):c.270C>T (p.Ser90=) rs775251694 0.00001
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn) rs528704555 0.00001
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728 0.00001
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr) rs762973293 0.00001
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr) rs200483369 0.00001
NM_000355.4(TCN2):c.427+13C>T rs753858269 0.00001
NM_000355.4(TCN2):c.427+15T>C rs764862389 0.00001
NM_000355.4(TCN2):c.428-7C>T rs778810764 0.00001
NM_000355.4(TCN2):c.428-8C>T rs1412501560 0.00001
NM_000355.4(TCN2):c.430C>T (p.His144Tyr) rs747296848 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.465C>T (p.Tyr155=) rs1484880205 0.00001
NM_000355.4(TCN2):c.490C>T (p.Leu164=) rs754253807 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr) rs759922664 0.00001
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp) rs777945731 0.00001
NM_000355.4(TCN2):c.567C>T (p.Gly189=) rs143343408 0.00001
NM_000355.4(TCN2):c.612C>T (p.Thr204=) rs1237569304 0.00001
NM_000355.4(TCN2):c.65-6T>A rs1602043415 0.00001
NM_000355.4(TCN2):c.660C>G (p.Thr220=) rs2087597240 0.00001
NM_000355.4(TCN2):c.708C>T (p.Pro236=) rs762630641 0.00001
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg) rs1273929738 0.00001
NM_000355.4(TCN2):c.735C>T (p.Ser245=) rs755751120 0.00001
NM_000355.4(TCN2):c.753+19del rs767328402 0.00001
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala) rs752978666 0.00001
NM_000355.4(TCN2):c.87T>C (p.His29=) rs1365708322 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000355.4(TCN2):c.915C>T (p.Ile305=) rs911038185 0.00001
NM_000355.4(TCN2):c.918C>T (p.Phe306=) rs567457027 0.00001
NM_000355.4(TCN2):c.924C>T (p.Asp308=) rs1376577981 0.00001
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr) rs2087605207 0.00001
NM_000355.4(TCN2):c.99G>A (p.Lys33=) rs1485632884 0.00001
NM_001062.4(TCN1):c.1122-16T>G rs767049262 0.00001
NM_001062.4(TCN1):c.1177T>C (p.Cys393Arg) rs755140492 0.00001
NM_001062.4(TCN1):c.214A>T (p.Met72Leu) rs372414904 0.00001
NM_001062.4(TCN1):c.26del (p.Leu9fs) rs1209702636 0.00001
NM_001062.4(TCN1):c.492C>T (p.Ala164=) rs773804679 0.00001
NM_001062.4(TCN1):c.623A>G (p.Lys208Arg) rs762584996 0.00001
NM_001062.4(TCN1):c.706G>A (p.Gly236Ser) rs1242630410 0.00001
NM_001062.4(TCN1):c.727A>C (p.Ser243Arg) rs751144850 0.00001
NM_001062.4(TCN1):c.750C>G (p.Ala250=) rs1217611864 0.00001
NM_001062.4(TCN1):c.951C>A (p.Ile317=) rs549442049 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter) rs561240556 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10277C>G (p.Thr3426Arg) rs143066121 0.00001
NM_001081.4(CUBN):c.10287G>A (p.Gln3429=) rs566428134 0.00001
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=) rs376007864 0.00001
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn) rs768846551 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1111+12T>A rs772358097 0.00001
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser) rs140397272 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1350C>T (p.Gly450=) rs770827241 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1531-8A>G rs776677485 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.1978C>A (p.Leu660Ile) rs1836092449 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2446+18T>C rs756171220 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.289G>A (p.Gly97Arg) rs763105241 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys) rs763475348 0.00001
NM_001081.4(CUBN):c.3500G>T (p.Gly1167Val) rs773892336 0.00001
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=) rs1479997421 0.00001
NM_001081.4(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.3977A>C (p.Asp1326Ala) rs774933317 0.00001
NM_001081.4(CUBN):c.4018-14C>A rs376137878 0.00001
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4312G>T (p.Val1438Leu) rs764937978 0.00001
NM_001081.4(CUBN):c.4696-18C>G rs745926280 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp) rs551594427 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5021C>T (p.Thr1674Met) rs747701083 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5083C>T (p.Arg1695Cys) rs770776726 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5470G>A (p.Val1824Ile) rs776108051 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5556C>T (p.Gly1852=) rs1459051392 0.00001
NM_001081.4(CUBN):c.5709A>G (p.Gln1903=) rs1305422200 0.00001
NM_001081.4(CUBN):c.5716T>C (p.Tyr1906His) rs186721969 0.00001
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala) rs1483369204 0.00001
NM_001081.4(CUBN):c.5757C>T (p.His1919=) rs79184887 0.00001
NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val) rs1379361226 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6048C>T (p.Thr2016=) rs770723197 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6366C>A (p.Val2122=) rs774532398 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+20A>G rs753314241 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.6991T>C (p.Tyr2331His) rs767769110 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001081.4(CUBN):c.704G>C (p.Arg235Pro) rs752992672 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.720+12C>A rs888514621 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7390A>C (p.Thr2464Pro) rs769747844 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro) rs145347743 0.00001
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) rs1199891308 0.00001
NM_001081.4(CUBN):c.7625C>A (p.Thr2542Lys) rs1841590875 0.00001
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter) rs1841554531 0.00001
NM_001081.4(CUBN):c.795C>T (p.Asp265=) rs777864127 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.83T>C (p.Leu28Pro) rs1054077052 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8565C>T (p.Ser2855=) rs201227730 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu) rs758557930 0.00001
NM_001081.4(CUBN):c.8739C>T (p.Ser2913=) rs140586269 0.00001
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile) rs142248018 0.00001
NM_001081.4(CUBN):c.8881A>T (p.Thr2961Ser) rs774440223 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9060C>T (p.Asn3020=) rs377526677 0.00001
NM_001081.4(CUBN):c.9208G>A (p.Val3070Ile) rs144314567 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9237-10C>T rs768128551 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9433A>G (p.Met3145Val) rs367575656 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001081.4(CUBN):c.9816C>T (p.Thr3272=) rs750580951 0.00001
NM_001081.4(CUBN):c.9841A>T (p.Thr3281Ser) rs570241713 0.00001
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1041A>G (p.Ala347=) rs1331838959 0.00001
NM_002454.3(MTRR):c.1057+7G>T rs767794040 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1131A>C (p.Arg377=) rs1050662553 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1147-6T>C rs781413511 0.00001
NM_002454.3(MTRR):c.1147-8T>C rs961118885 0.00001
NM_002454.3(MTRR):c.1149A>G (p.Ala383=) rs748418818 0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.1227G>A (p.Gly409=) rs1250182164 0.00001
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=) rs755507944 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.1257T>C (p.Asp419=) rs1292824472 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.130-12C>G rs764724859 0.00001
NM_002454.3(MTRR):c.1311A>G (p.Pro437=) rs755561250 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1371-10A>G rs368498814 0.00001
NM_002454.3(MTRR):c.13C>T (p.Leu5=) rs763313419 0.00001
NM_002454.3(MTRR):c.1443A>G (p.Thr481=) rs1359474445 0.00001
NM_002454.3(MTRR):c.1527T>C (p.His509=) rs1483514424 0.00001
NM_002454.3(MTRR):c.1533C>T (p.Asp511=) rs1269324233 0.00001
NM_002454.3(MTRR):c.1546C>T (p.Leu516=) rs1268958481 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1593C>T (p.His531=) rs778082216 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1602T>C (p.Asp534=) rs1738404887 0.00001
NM_002454.3(MTRR):c.1666C>T (p.Leu556=) rs762466500 0.00001
NM_002454.3(MTRR):c.1676+10T>C rs757713803 0.00001
NM_002454.3(MTRR):c.1677-6A>G rs780299669 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1764A>G (p.Leu588=) rs766927577 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.1791T>C (p.Leu597=) rs767659059 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1857A>G (p.Glu619=) rs1416687292 0.00001
NM_002454.3(MTRR):c.1869G>A (p.Lys623=) rs768364684 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.1917C>A (p.Ile639=) rs778699591 0.00001
NM_002454.3(MTRR):c.1952+14G>A rs557018438 0.00001
NM_002454.3(MTRR):c.1992T>C (p.Leu664=) rs375588388 0.00001
NM_002454.3(MTRR):c.2031A>G (p.Leu677=) rs367590648 0.00001
NM_002454.3(MTRR):c.2052C>T (p.Ala684=) rs1427160228 0.00001
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=) rs984089159 0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs) rs1408257020 0.00001
NM_002454.3(MTRR):c.303C>T (p.Tyr101=) rs1748681766 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.378T>C (p.Thr126=) rs577851734 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.39A>G (p.Gly13=) rs752509731 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.401+9A>G rs376866907 0.00001
NM_002454.3(MTRR):c.423G>A (p.Pro141=) rs753947379 0.00001
NM_002454.3(MTRR):c.432T>G (p.Ala144=) rs116439533 0.00001
NM_002454.3(MTRR):c.477A>G (p.Gly159=) rs1270504511 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_002454.3(MTRR):c.504G>A (p.Pro168=) rs746183496 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.588C>T (p.Phe196=) rs776897289 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.594T>C (p.Asp198=) rs773514527 0.00001
NM_002454.3(MTRR):c.612T>C (p.Ser204=) rs374670570 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.708A>G (p.Ser236=) rs372700667 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.744A>G (p.Glu248=) rs749341418 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002454.3(MTRR):c.807A>G (p.Ser269=) rs1348478237 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.84A>G (p.Val28=) rs1045121482 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_002454.3(MTRR):c.903+19T>A rs930028739 0.00001
NM_002454.3(MTRR):c.904-10del rs1467919139 0.00001
NM_002454.3(MTRR):c.936C>T (p.Ala312=) rs777075473 0.00001
NM_002454.3(MTRR):c.942C>T (p.Ser314=) rs770336060 0.00001
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys) rs1446995315 0.00001
NM_005050.4(ABCD4):c.1028+17C>T rs1290816055 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=) rs546298874 0.00001
NM_005050.4(ABCD4):c.12G>C (p.Ala4=) rs754280972 0.00001
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=) rs201586690 0.00001
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg) rs759539743 0.00001
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=) rs760206135 0.00001
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=) rs780349078 0.00001
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg) rs1360319567 0.00001
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=) rs747273884 0.00001
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734 0.00001
NM_005050.4(ABCD4):c.158-7C>A rs557930358 0.00001
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile) rs780846855 0.00001
NM_005050.4(ABCD4):c.166G>A (p.Val56Met) rs2083804334 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_005050.4(ABCD4):c.1753-18G>A rs772567988 0.00001
NM_005050.4(ABCD4):c.1753-4G>A rs554458015 0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys) rs773609274 0.00001
NM_005050.4(ABCD4):c.285+19T>C rs369159114 0.00001
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856 0.00001
NM_005050.4(ABCD4):c.360C>T (p.His120=) rs1050702853 0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His) rs1349388678 0.00001
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys) rs776529140 0.00001
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp) rs373322009 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005050.4(ABCD4):c.594C>T (p.Thr198=) rs202070697 0.00001
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg) rs1280841182 0.00001
NM_005050.4(ABCD4):c.669-7C>T rs371152472 0.00001
NM_005050.4(ABCD4):c.6G>A (p.Ala2=) rs1486429349 0.00001
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr) rs761053363 0.00001
NM_005050.4(ABCD4):c.9C>G (p.Val3=) rs72542410 0.00001
NM_005142.3(CBLIF):c.*56T>G rs886048401 0.00001
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) rs766270119 0.00001
NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg) rs1460997213 0.00001
NM_005142.3(CBLIF):c.192C>T (p.Ala64=) rs1011636376 0.00001
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) rs376339959 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NM_005334.3(HCFC1):c.1085-15T>C rs782302951 0.00001
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=) rs1557116370 0.00001
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) rs781937365 0.00001
NM_005334.3(HCFC1):c.138G>C (p.Val46=) rs782634164 0.00001
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=) rs782186278 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.2029-17C>T rs1184396495 0.00001
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=) rs1322440288 0.00001
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422 0.00001
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) rs782276292 0.00001
NM_005334.3(HCFC1):c.2475C>T (p.His825=) rs782533163 0.00001
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=) rs1557115062 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) rs781971515 0.00001
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589 0.00001
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) rs782235304 0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) rs1043389387 0.00001
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) rs782676033 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) rs1557113936 0.00001
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg) rs781875988 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656 0.00001
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) rs946537625 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) rs782136932 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459 0.00001
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) rs782122807 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) rs1272514582 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) rs372010656 0.00001
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=) rs372903122 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) rs1557112412 0.00001
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.6069-16T>C rs1184614214 0.00001
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=) rs1242952055 0.00001
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) rs1557117476 0.00001
NM_005334.3(HCFC1):c.684G>A (p.Arg228=) rs781873669 0.00001
NM_005334.3(HCFC1):c.753G>A (p.Ala251=) rs1557117195 0.00001
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322 0.00001
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp) rs780981680 0.00001
NM_015506.3(MMACHC):c.159C>T (p.Leu53=) rs371927733 0.00001
NM_015506.3(MMACHC):c.180C>T (p.Asp60=) rs535215325 0.00001
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.213C>T (p.His71=) rs746112343 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.258T>C (p.His86=) rs1005452717 0.00001
NM_015506.3(MMACHC):c.276+10G>A rs1229858789 0.00001
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.423G>A (p.Gly141=) rs1035201847 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.48A>G (p.Leu16=) rs1366120426 0.00001
NM_015506.3(MMACHC):c.520C>T (p.Leu174=) rs1298700969 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.570C>T (p.Ile190=) rs769162698 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.636G>A (p.Gln212=) rs774357624 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391 0.00001
NM_015506.3(MMACHC):c.726G>A (p.Lys242=) rs750002717 0.00001
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=) rs755881820 0.00001
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802 0.00001
NM_015506.3(MMACHC):c.771C>G (p.Pro257=) rs376037114 0.00001
NM_015506.3(MMACHC):c.792C>T (p.Ser264=) rs1458150108 0.00001
NM_015506.3(MMACHC):c.804C>T (p.Ser268=) rs941778714 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015506.3(MMACHC):c.828A>G (p.Pro276=) rs1288893138 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.117G>A (p.Ser39=) rs1448387303 0.00001
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) rs775175927 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_015702.3(MMADHC):c.237T>C (p.Gly79=) rs763521620 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.372+7T>C rs368516017 0.00001
NM_015702.3(MMADHC):c.373-16T>C rs754844727 0.00001
NM_015702.3(MMADHC):c.373-8C>A rs766361763 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.432C>G (p.Ala144=) rs1478523517 0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) rs780889876 0.00001
NM_015702.3(MMADHC):c.466T>C (p.Leu156=) rs778778537 0.00001
NM_015702.3(MMADHC):c.561T>G (p.Thr187=) rs1282238457 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.624T>C (p.Ala208=) rs1485998377 0.00001
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=) rs1427942673 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015702.3(MMADHC):c.765T>C (p.Ser255=) rs376860199 0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) rs766017009 0.00001
NM_015702.3(MMADHC):c.828A>G (p.Val276=) rs937318527 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_015702.3(MMADHC):c.9+12A>C rs570608507 0.00001
NM_016579.4(CD320):c.143-9A>G rs779568253 0.00001
NM_016579.4(CD320):c.202G>A (p.Val68Met) rs748020753 0.00001
NM_016579.4(CD320):c.210C>T (p.Leu70=) rs780676013 0.00001
NM_016579.4(CD320):c.212C>G (p.Thr71Ser) rs560650557 0.00001
NM_016579.4(CD320):c.306G>A (p.Pro102=) rs755073624 0.00001
NM_016579.4(CD320):c.32C>A (p.Ala11Glu) rs567898376 0.00001
NM_016579.4(CD320):c.334G>A (p.Gly112Ser) rs948576208 0.00001
NM_016579.4(CD320):c.404G>T (p.Gly135Val) rs751841592 0.00001
NM_016579.4(CD320):c.459C>T (p.Asp153=) rs750510195 0.00001
NM_016579.4(CD320):c.7G>A (p.Gly3Ser) rs778033415 0.00001
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=) rs558926049 0.00001
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter) rs1380343985 0.00001
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln) rs772350306 0.00001
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys) rs1364347331 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) rs781535724 0.00001
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=) rs1382933312 0.00001
NM_018368.4(LMBRD1):c.1417+9A>G rs763882735 0.00001
NM_018368.4(LMBRD1):c.1418-20T>A rs758519179 0.00001
NM_018368.4(LMBRD1):c.1510-19G>A rs1484305691 0.00001
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=) rs771408766 0.00001
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) rs982934588 0.00001
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) rs765308443 0.00001
NM_018368.4(LMBRD1):c.247-4C>T rs1321930777 0.00001
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981 0.00001
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) rs1766557026 0.00001
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala) rs1297619412 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) rs1034430613 0.00001
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.1200T>C (p.Ala400=) rs1410658337 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.296-10T>C rs1229295738 0.00001
NM_030943.4(AMN):c.296-3C>T rs764763091 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.760+10C>T rs1312771036 0.00001
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) rs1450455717 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_052845.3(MMAB):c.-69G>A rs886048928 0.00001
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) rs1466525448 0.00001
NM_052845.4(MMAB):c.135-4T>C rs1025409144 0.00001
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu) rs571555515 0.00001
NM_052845.4(MMAB):c.254C>T (p.Ala85Val) rs770743560 0.00001
NM_052845.4(MMAB):c.255C>T (p.Ala85=) rs894225131 0.00001
NM_052845.4(MMAB):c.348+10_348+13del rs775340018 0.00001
NM_052845.4(MMAB):c.348+7A>G rs769138883 0.00001
NM_052845.4(MMAB):c.348+9C>T rs747459155 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.360A>G (p.Thr120=) rs1393235772 0.00001
NM_052845.4(MMAB):c.369C>T (p.Asp123=) rs1055749855 0.00001
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp) rs778169806 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) rs755568905 0.00001
NM_052845.4(MMAB):c.422-6C>T rs759110803 0.00001
NM_052845.4(MMAB):c.423G>A (p.Lys141=) rs1474862262 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370 0.00001
NM_052845.4(MMAB):c.451C>T (p.Leu151=) rs1884202824 0.00001
NM_052845.4(MMAB):c.456G>A (p.Glu152=) rs1884202411 0.00001
NM_052845.4(MMAB):c.457C>T (p.Leu153=) rs767045171 0.00001
NM_052845.4(MMAB):c.465G>A (p.Gln155=) rs1323701026 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter) rs758790126 0.00001
NM_052845.4(MMAB):c.525A>G (p.Gly175=) rs138069953 0.00001
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956 0.00001
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) rs763383858 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.644+6C>T rs376868629 0.00001
NM_052845.4(MMAB):c.645-8C>G rs1251570137 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 0.00001
NM_172250.3(MMAA):c.*1779T>C rs886059097 0.00001
NM_172250.3(MMAA):c.*1819C>G rs983321169 0.00001
NM_172250.3(MMAA):c.*229T>C rs886059092 0.00001
NM_172250.3(MMAA):c.*2378A>G rs886059104 0.00001
NM_172250.3(MMAA):c.*2444C>G rs934446234 0.00001
NM_172250.3(MMAA):c.*2479G>A rs886059107 0.00001
NM_172250.3(MMAA):c.*2627A>G rs886059109 0.00001
NM_172250.3(MMAA):c.*353C>A rs1302018790 0.00001
NM_172250.3(MMAA):c.*4504C>A rs1009787082 0.00001
NM_172250.3(MMAA):c.*540A>T rs886059094 0.00001
NM_172250.3(MMAA):c.*67G>A rs886059090 0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn) rs756437003 0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980 0.00001
NM_172250.3(MMAA):c.1099A>G (p.Met367Val) rs754474832 0.00001
NM_172250.3(MMAA):c.1137C>T (p.Phe379=) rs1010401774 0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818 0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664 0.00001
NM_172250.3(MMAA):c.159G>A (p.Lys53=) rs1191388669 0.00001
NM_172250.3(MMAA):c.15A>G (p.Leu5=) rs755914586 0.00001
NM_172250.3(MMAA):c.177T>C (p.Asp59=) rs1727713075 0.00001
NM_172250.3(MMAA):c.258G>A (p.Val86=) rs1240108337 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val) rs1284134117 0.00001
NM_172250.3(MMAA):c.336C>T (p.His112=) rs771388415 0.00001
NM_172250.3(MMAA):c.33T>C (p.His11=) rs370983676 0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro) rs760875006 0.00001
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe) rs965827040 0.00001
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln) rs369113922 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_172250.3(MMAA):c.440-5C>T rs759611574 0.00001
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser) rs753463116 0.00001
NM_172250.3(MMAA):c.563-9A>G rs1361037765 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys) rs1036460255 0.00001
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg) rs889048711 0.00001
NM_172250.3(MMAA):c.702G>A (p.Ala234=) rs781525637 0.00001
NM_172250.3(MMAA):c.721A>G (p.Ile241Val) rs756221585 0.00001
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr) rs371068331 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.734-7A>G rs753938949 0.00001
NM_172250.3(MMAA):c.734-8A>G rs778057240 0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934 0.00001
NM_172250.3(MMAA):c.756T>C (p.Ala252=) rs781124654 0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs) rs1489525542 0.00001
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr) rs769722136 0.00001
NM_172250.3(MMAA):c.763G>C (p.Asp255His) rs1267434098 0.00001
NM_172250.3(MMAA):c.795A>C (p.Pro265=) rs767934772 0.00001
NM_172250.3(MMAA):c.819+10T>A rs1202834297 0.00001
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr) rs1204400776 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172250.3(MMAA):c.840C>T (p.Ile280=) rs750509072 0.00001
NM_172250.3(MMAA):c.86A>G (p.His29Arg) rs367809749 0.00001
NM_172250.3(MMAA):c.891G>A (p.Val297=) rs1315370286 0.00001
NM_172250.3(MMAA):c.927A>G (p.Ala309=) rs769082931 0.00001
NM_172250.3(MMAA):c.970-7T>C rs770942394 0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432 0.00001
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
MTR, IVS6AS, G-A, LYS203
MTRR, 4-BP DEL, NT1675
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237054413)_(237057877_?)del
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45966005)_(45977106_?)dup
NC_000001.10:g.(?_45973008)_(45977106_?)del
NC_000001.10:g.(?_45974458)_(45974897_?)del
NC_000001.11:g.(?_236795684)_(236897664_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000002.11:g.(?_150426488)_(150426702_?)del
NC_000002.11:g.(?_150426488)_(150443611_?)del
NC_000002.11:g.(?_150438631)_(150438795_?)del
NC_000002.11:g.(?_150443583)_(150443611_?)del
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000004.11:g.(?_146560292)_(149358012_?)del
NC_000004.11:g.(?_146575136)_(146576596_?)del
NC_000004.12:g.(?_145639120)_(145642505_?)del
NC_000005.10:g.(?_7869114)_(7900078_?)del
NC_000005.10:g.(?_7877934)_(7878332_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7870908)_(7871056_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7875361)_(7875498_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000005.9:g.(?_7891465)_(7891547_?)del
NC_000005.9:g.(?_7892820)_(7893046_?)del
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NC_000006.11:g.(?_70386050)_(70490466_?)dup
NC_000006.11:g.(?_70386050)_(71012627_?)del
NC_000006.11:g.(?_70459213)_(70462268_?)del
NC_000006.11:g.(?_70490366)_(70506773_?)dup
NC_000006.12:g.69780555del
NC_000010.10:g.(?_16866974)_(16867101_?)del
NC_000010.10:g.(?_16866974)_(18828653_?)dup
NC_000010.10:g.(?_16961942)_(16970322_?)del
NC_000010.10:g.(?_17151619)_(17157616_?)del
NC_000011.9:g.(?_59603261)_(59604844_?)dup
NC_000011.9:g.(?_59628980)_(59629175_?)dup
NC_000012.11:g.(?_109991510)_(109994951_?)del
NC_000012.11:g.(?_110002904)_(110003001_?)del
NC_000012.11:g.(?_110009434)_(110009535_?)dup
NC_000012.11:g.(?_110009444)_(110012715_?)del
NC_000012.11:g.(?_110011228)_(110017709_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000014.8:g.(?_103389228)_(103394842_?)del
NC_000014.8:g.(?_74766231)_(74769615_?)del
NC_000014.9:g.(?_102870182)_(102930700_?)del
NC_000019.10:g.(?_8302443)_(8308310_?)dup
NC_000019.9:g.(?_8367347)_(8370060_?)dup
NC_000022.10:g.(?_31003319)_(31003402_?)del
NC_000022.10:g.(?_31003319)_(31022508_?)del
NC_000022.10:g.(?_31003319)_(31022508_?)dup
NC_000022.10:g.(?_31008840)_(31013502_?)del
NC_000022.10:g.(?_31008840)_(31019090_?)del
NC_000022.10:g.(?_31010316)_(31013502_?)del
NC_000022.10:g.(?_31018935)_(31019090_?)del
NC_000022.11:g.(?_30612853)_(30615807_?)del
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
NM_000254.3(MTR):c.1075+12A>C
NM_000254.3(MTR):c.1075+14A>T
NM_000254.3(MTR):c.1076-11C>G rs186367553
NM_000254.3(MTR):c.1076-19A>T
NM_000254.3(MTR):c.1076-20A>T
NM_000254.3(MTR):c.1076-9C>T
NM_000254.3(MTR):c.1077T>G (p.Gly359=) rs745469748
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
NM_000254.3(MTR):c.1101G>A (p.Pro367=) rs763018049
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
NM_000254.3(MTR):c.1188+19C>T
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1188+7A>G
NM_000254.3(MTR):c.1189-11T>C rs2103148397
NM_000254.3(MTR):c.1189-14C>G
NM_000254.3(MTR):c.1189-18C>T
NM_000254.3(MTR):c.1189-20C>T
NM_000254.3(MTR):c.1189-7C>T
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
NM_000254.3(MTR):c.1231C>T (p.Gln411Ter)
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
NM_000254.3(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
NM_000254.3(MTR):c.126G>A (p.Gln42=)
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
NM_000254.3(MTR):c.1329+14T>C
NM_000254.3(MTR):c.1329+15_1329+16del
NM_000254.3(MTR):c.1329+16T>C
NM_000254.3(MTR):c.1329+16del
NM_000254.3(MTR):c.1329+19T>G
NM_000254.3(MTR):c.1329+9A>G
NM_000254.3(MTR):c.1330-10C>T
NM_000254.3(MTR):c.1330-12T>C
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1330-5C>A
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
NM_000254.3(MTR):c.135G>A (p.Lys45=) rs747724978
NM_000254.3(MTR):c.1362T>G (p.Ala454=) rs376684560
NM_000254.3(MTR):c.136C>T (p.Leu46=)
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
NM_000254.3(MTR):c.141C>T (p.Asn47=)
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1488G>C (p.Val496=)
NM_000254.3(MTR):c.1491C>T (p.Val497=)
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.1513C>T (p.Gln505Ter)
NM_000254.3(MTR):c.1515+14T>G
NM_000254.3(MTR):c.1515+16T>C
NM_000254.3(MTR):c.1515+17G>A
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1516-11C>G
NM_000254.3(MTR):c.1516-11C>T
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.1516-5C>T
NM_000254.3(MTR):c.1516-6C>G
NM_000254.3(MTR):c.1516-6C>T
NM_000254.3(MTR):c.1516-7T>G
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1545G>A (p.Val515=)
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
NM_000254.3(MTR):c.1575A>G (p.Lys525=) rs199700767
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.1647A>G (p.Glu549=) rs1171736020
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
NM_000254.3(MTR):c.1689C>A (p.Val563=)
NM_000254.3(MTR):c.1689C>T (p.Val563=)
NM_000254.3(MTR):c.1695+10G>A
NM_000254.3(MTR):c.1695+11G>A
NM_000254.3(MTR):c.1695+13A>G
NM_000254.3(MTR):c.1695+13A>T
NM_000254.3(MTR):c.1695+14T>C
NM_000254.3(MTR):c.1695+17T>G
NM_000254.3(MTR):c.1695+18C>T
NM_000254.3(MTR):c.1695+20C>T
NM_000254.3(MTR):c.1695+2T>A
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1695+7G>A
NM_000254.3(MTR):c.1695+7G>T rs183273480
NM_000254.3(MTR):c.1696-14A>G
NM_000254.3(MTR):c.1696-18T>C rs2103252601
NM_000254.3(MTR):c.1696-19A>G
NM_000254.3(MTR):c.1696-4C>T
NM_000254.3(MTR):c.1696-5G>A
NM_000254.3(MTR):c.1696-5G>T
NM_000254.3(MTR):c.1696-6T>C
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
NM_000254.3(MTR):c.174T>C (p.Asp58=) rs2103013970
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
NM_000254.3(MTR):c.177T>C (p.His59=)
NM_000254.3(MTR):c.1784A>C (p.His595Pro)
NM_000254.3(MTR):c.1803T>C (p.His601=)
NM_000254.3(MTR):c.1812+10A>G
NM_000254.3(MTR):c.1812+12G>T
NM_000254.3(MTR):c.1812+15C>T
NM_000254.3(MTR):c.1812+16T>A
NM_000254.3(MTR):c.1812+17C>T
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1813-11A>G rs1289723374
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
NM_000254.3(MTR):c.186G>A (p.Pro62=)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.18A>G (p.Gln6=)
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
NM_000254.3(MTR):c.192A>G (p.Lys64=)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+11A>C
NM_000254.3(MTR):c.1953+12A>G
NM_000254.3(MTR):c.1953+13G>A
NM_000254.3(MTR):c.1953+15G>T
NM_000254.3(MTR):c.1953+18C>T
NM_000254.3(MTR):c.1953+19T>A
NM_000254.3(MTR):c.1953+20A>G
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1953+9A>C
NM_000254.3(MTR):c.1954-11T>A
NM_000254.3(MTR):c.1954-12A>C rs192346180
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.1954-19G>C rs2103290480
NM_000254.3(MTR):c.1954-4T>C
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2013C>A (p.Val671=)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2022C>T (p.Arg674=) rs2103291244
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
NM_000254.3(MTR):c.2043+15C>T
NM_000254.3(MTR):c.2043+8A>G
NM_000254.3(MTR):c.2043+9C>T rs2103291466
NM_000254.3(MTR):c.2044-11_2044-9del rs542174711
NM_000254.3(MTR):c.2044-11dup
NM_000254.3(MTR):c.2044-12T>C
NM_000254.3(MTR):c.2044-17T>C
NM_000254.3(MTR):c.2044-19T>C
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2044-20T>C
NM_000254.3(MTR):c.2044-4T>C
NM_000254.3(MTR):c.2044-7T>G
NM_000254.3(MTR):c.2044-8T>C rs1664517879
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2118T>C (p.Asn706=) rs1664526437
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.213T>C (p.Ser71=)
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
NM_000254.3(MTR):c.2196+12A>C rs1664530187
NM_000254.3(MTR):c.2196+13T>C
NM_000254.3(MTR):c.2196+15G>A
NM_000254.3(MTR):c.2196+17G>A
NM_000254.3(MTR):c.2196+17G>C
NM_000254.3(MTR):c.2196+19G>A rs372533462
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2197-18C>A
NM_000254.3(MTR):c.2197-18C>G
NM_000254.3(MTR):c.2197-5C>G
NM_000254.3(MTR):c.2197-6T>C rs1328542941
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.225T>G (p.Pro75=)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+16C>A
NM_000254.3(MTR):c.2304+16C>T
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2305-11T>C
NM_000254.3(MTR):c.2305-11T>G
NM_000254.3(MTR):c.2305-14G>T
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2305-4C>T
NM_000254.3(MTR):c.2305-5T>C
NM_000254.3(MTR):c.2305-9C>T
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2346C>T (p.Gly782=) rs777213189
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2355C>T (p.His785=)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
NM_000254.3(MTR):c.2385C>A (p.Val795=)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
NM_000254.3(MTR):c.2405+18del
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2405+20C>G
NM_000254.3(MTR):c.2405+20C>T
NM_000254.3(MTR):c.2405+8A>G rs886046221
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2406-10T>C
NM_000254.3(MTR):c.2406-18C>G
NM_000254.3(MTR):c.2406-18C>T
NM_000254.3(MTR):c.2406-1G>A
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2406-8T>G
NM_000254.3(MTR):c.2406-9G>C
NM_000254.3(MTR):c.240A>G (p.Gln80=)
NM_000254.3(MTR):c.2424C>G (p.Val808=)
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+17C>T
NM_000254.3(MTR):c.2473+20T>A
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2473+9C>A
NM_000254.3(MTR):c.2474-10A>T
NM_000254.3(MTR):c.2474-15A>T
NM_000254.3(MTR):c.2474-17_2474-16inv
NM_000254.3(MTR):c.2474-18T>C rs10925256
NM_000254.3(MTR):c.2474-18_2474-17insTA
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-19_2474-17del
NM_000254.3(MTR):c.2474-19_2474-18insAA
NM_000254.3(MTR):c.2474-19_2474-18inv
NM_000254.3(MTR):c.2474-20_2474-19insA rs1665333724
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2474-9A>C
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
NM_000254.3(MTR):c.249+11C>T
NM_000254.3(MTR):c.249+15G>T
NM_000254.3(MTR):c.249+16del
NM_000254.3(MTR):c.249+19C>G
NM_000254.3(MTR):c.249+20C>G
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
NM_000254.3(MTR):c.250-10C>G
NM_000254.3(MTR):c.250-12C>G
NM_000254.3(MTR):c.250-15A>C
NM_000254.3(MTR):c.250-4dup
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
NM_000254.3(MTR):c.2594+10A>G
NM_000254.3(MTR):c.2594+11C>T
NM_000254.3(MTR):c.2594+18G>A rs1558329619
NM_000254.3(MTR):c.2594+19C>G
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+20_2594+28dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2595-8C>G
NM_000254.3(MTR):c.2595-8C>T
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
NM_000254.3(MTR):c.2601C>T (p.His867=)
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.2676+11G>A
NM_000254.3(MTR):c.2676+14C>G
NM_000254.3(MTR):c.2676+17A>C
NM_000254.3(MTR):c.2676+17A>G
NM_000254.3(MTR):c.2676+19A>G
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2676+8G>T
NM_000254.3(MTR):c.2677-10dup
NM_000254.3(MTR):c.2677-13C>T
NM_000254.3(MTR):c.2677-15A>G
NM_000254.3(MTR):c.2677-5T>G
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
NM_000254.3(MTR):c.270A>G (p.Ala90=)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2760T>C (p.His920=)
NM_000254.3(MTR):c.2775+17G>A
NM_000254.3(MTR):c.2775+19T>G
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2775+7G>A
NM_000254.3(MTR):c.2776-11T>G
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.2802A>G (p.Gln934=) rs963291512
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
NM_000254.3(MTR):c.2851+13A>G
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.2851+8T>G
NM_000254.3(MTR):c.2852-11C>G
NM_000254.3(MTR):c.2852-13T>C
NM_000254.3(MTR):c.2852-15A>T
NM_000254.3(MTR):c.2852-17A>G
NM_000254.3(MTR):c.2852-18C>T
NM_000254.3(MTR):c.2852-4G>T
NM_000254.3(MTR):c.2852-7C>T rs1233643439
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
NM_000254.3(MTR):c.294T>C (p.Phe98=)
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
NM_000254.3(MTR):c.3007+15T>G
NM_000254.3(MTR):c.3007+1G>A
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3007+20C>T
NM_000254.3(MTR):c.3007+7G>A
NM_000254.3(MTR):c.3008-13G>T
NM_000254.3(MTR):c.3008-15C>A
NM_000254.3(MTR):c.3008-19_3008-14del
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3008-5A>G
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3057A>G (p.Thr1019=) rs1394740700
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
NM_000254.3(MTR):c.30A>G (p.Gln10=)
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
NM_000254.3(MTR):c.3204+11T>C
NM_000254.3(MTR):c.3204+14A>G
NM_000254.3(MTR):c.3204+20A>G
NM_000254.3(MTR):c.3205-12C>T
NM_000254.3(MTR):c.3205-13C>T
NM_000254.3(MTR):c.3205-15C>T
NM_000254.3(MTR):c.3205-16A>G
NM_000254.3(MTR):c.3205-18A>G
NM_000254.3(MTR):c.3205-7T>C
NM_000254.3(MTR):c.3205-8G>C
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3205-9G>T
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
NM_000254.3(MTR):c.327C>T (p.Gly109=)
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.33C>T (p.Pro11=)
NM_000254.3(MTR):c.34+11G>C
NM_000254.3(MTR):c.34+13C>T
NM_000254.3(MTR):c.34+14C>T
NM_000254.3(MTR):c.34+15C>T
NM_000254.3(MTR):c.34+16C>A
NM_000254.3(MTR):c.34+19C>T
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.34+9G>A
NM_000254.3(MTR):c.340-166A>C
NM_000254.3(MTR):c.340-20G>A
NM_000254.3(MTR):c.3405+17G>A
NM_000254.3(MTR):c.3405+19G>A
NM_000254.3(MTR):c.3405+21del
NM_000254.3(MTR):c.3405+6_3405+33dup
NM_000254.3(MTR):c.3406-12T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.3406-4C>T
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-12C>T
NM_000254.3(MTR):c.35-14del
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3552C>G (p.Thr1184=) rs760793648
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3598+13A>C
NM_000254.3(MTR):c.3598+18G>A
NM_000254.3(MTR):c.3598+19C>T
NM_000254.3(MTR):c.3598+20G>A
NM_000254.3(MTR):c.3599-14G>A
NM_000254.3(MTR):c.3599-14G>C
NM_000254.3(MTR):c.3599-17T>C
NM_000254.3(MTR):c.3599-4C>T
NM_000254.3(MTR):c.3599-5T>C
NM_000254.3(MTR):c.3599-6C>G rs2147960863
NM_000254.3(MTR):c.3599-8C>T
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
NM_000254.3(MTR):c.3711+10C>A
NM_000254.3(MTR):c.3711+10C>T
NM_000254.3(MTR):c.3711+15del
NM_000254.3(MTR):c.3711+20A>G
NM_000254.3(MTR):c.3711+22_3711+23del
NM_000254.3(MTR):c.3712-1G>A
NM_000254.3(MTR):c.3712-4G>A
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.3712-9C>A
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
NM_000254.3(MTR):c.375C>T (p.Ala125=)
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.387C>A (p.Ala129=)
NM_000254.3(MTR):c.387C>T (p.Ala129=) rs575706892
NM_000254.3(MTR):c.399T>C (p.Thr133=)
NM_000254.3(MTR):c.402C>T (p.Leu134=)
NM_000254.3(MTR):c.409+14T>G
NM_000254.3(MTR):c.409+15_409+17del rs750828089
NM_000254.3(MTR):c.409+17T>C
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.426G>C (p.Val142=)
NM_000254.3(MTR):c.447T>A (p.Thr149=)
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.468C>T (p.Ser156=)
NM_000254.3(MTR):c.471A>G (p.Pro157=) rs931152176
NM_000254.3(MTR):c.471A>T (p.Pro157=)
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.502+14A>G
NM_000254.3(MTR):c.502+16A>C
NM_000254.3(MTR):c.502+21_502+24dup
NM_000254.3(MTR):c.503-14T>C
NM_000254.3(MTR):c.503-15A>T
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.504A>C (p.Thr168=)
NM_000254.3(MTR):c.504A>G (p.Thr168=)
NM_000254.3(MTR):c.507T>C (p.Phe169=)
NM_000254.3(MTR):c.510T>C (p.Asp170=)
NM_000254.3(MTR):c.546A>G (p.Gly182=)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.606C>T (p.Ala202=)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.609+14G>C
NM_000254.3(MTR):c.609+14G>T
NM_000254.3(MTR):c.609+16A>G
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.610-12T>C
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.610-6T>C rs769743026
NM_000254.3(MTR):c.610-6T>G
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.627C>A (p.Leu209=)
NM_000254.3(MTR):c.630A>G (p.Gln210=)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.640del (p.Glu214fs)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
NM_000254.3(MTR):c.660G>A (p.Arg220=)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.669+12dup
NM_000254.3(MTR):c.670-11T>C
NM_000254.3(MTR):c.670-20T>C
NM_000254.3(MTR):c.670-20T>G
NM_000254.3(MTR):c.681G>A (p.Thr227=)
NM_000254.3(MTR):c.684C>A (p.Ile228=)
NM_000254.3(MTR):c.699G>A (p.Gly233=)
NM_000254.3(MTR):c.6A>G (p.Ser2=)
NM_000254.3(MTR):c.702G>A (p.Arg234=)
NM_000254.3(MTR):c.726G>A (p.Glu242=)
NM_000254.3(MTR):c.741C>T (p.Ser247=)
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.750T>C (p.His250=)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764+7G>A
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.765-12C>G
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.765-4C>T
NM_000254.3(MTR):c.765-5T>C
NM_000254.3(MTR):c.786G>A (p.Leu262=)
NM_000254.3(MTR):c.792A>G (p.Ala264=)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.834A>G (p.Thr278=)
NM_000254.3(MTR):c.865+10T>C
NM_000254.3(MTR):c.865+12A>G rs2103095649
NM_000254.3(MTR):c.865+18G>T
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.865+1GT[3] rs2103095576
NM_000254.3(MTR):c.865+7G>T
NM_000254.3(MTR):c.866-13T>G
NM_000254.3(MTR):c.866-16A>C
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.866-6T>C
NM_000254.3(MTR):c.866-8T>C
NM_000254.3(MTR):c.873C>G (p.Pro291=)
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.879C>T (p.Thr293=)
NM_000254.3(MTR):c.888C>T (p.Asp296=)
NM_000254.3(MTR):c.894T>C (p.Asp298=)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.900G>A (p.Thr300=)
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.906T>C (p.Ser302=)
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_000254.3(MTR):c.915C>T (p.Ala305=)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000254.3(MTR):c.924A>G (p.Leu308=)
NM_000254.3(MTR):c.927+10C>A
NM_000254.3(MTR):c.927+11C>A
NM_000254.3(MTR):c.927+14dup
NM_000254.3(MTR):c.927+18C>G
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000254.3(MTR):c.927+20C>T
NM_000254.3(MTR):c.927+20del
NM_000254.3(MTR):c.927+7G>A
NM_000254.3(MTR):c.928-18G>A
NM_000254.3(MTR):c.928-19T>G
NM_000254.3(MTR):c.928-9T>A
NM_000254.3(MTR):c.963A>C (p.Gly321=)
NM_000254.3(MTR):c.975G>A (p.Gly325=)
NM_000254.3(MTR):c.981A>C (p.Thr327=)
NM_000254.3(MTR):c.984A>G (p.Pro328=)
NM_000254.3(MTR):c.987T>C (p.Asp329=)
NM_000254.3(MTR):c.995+14A>G
NM_000254.3(MTR):c.995+19C>T
NM_000254.3(MTR):c.996-12C>T
NM_000254.3(MTR):c.996-14C>T
NM_000254.3(MTR):c.99G>A (p.Leu33=)
NM_000254.3(MTR):c.9C>T (p.Pro3=) rs201975748
NM_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*173C>T rs896653059
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*283C>G rs538133033
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*415T>G rs560130628
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-6G>A rs771507572
NM_000355.4(TCN2):c.1000C>T (p.Leu334=)
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter) rs771755125
NM_000355.4(TCN2):c.1017C>T (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr) rs746722274
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala) rs746722274
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
NM_000355.4(TCN2):c.1041C>A (p.Ile347=) rs750640912
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys) rs9621049
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu) rs2087628967
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val) rs951348375
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu) rs778691896
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser) rs1237571997
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr) rs2087629933
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106+10C>T
NM_000355.4(TCN2):c.1106+11C>G
NM_000355.4(TCN2):c.1106+11C>T rs2145548417
NM_000355.4(TCN2):c.1106+13_1106+19del
NM_000355.4(TCN2):c.1106+14C>T
NM_000355.4(TCN2):c.1106+17C>T
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
NM_000355.4(TCN2):c.1107-11C>G
NM_000355.4(TCN2):c.1107-11C>T rs375069878
NM_000355.4(TCN2):c.1107-15C>T
NM_000355.4(TCN2):c.1107-17G>T
NM_000355.4(TCN2):c.1107-18T>C
NM_000355.4(TCN2):c.1107-6C>T
NM_000355.4(TCN2):c.1107-7T>G
NM_000355.4(TCN2):c.1107-9C>T
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys) rs1406364381
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) rs1279321570
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del) rs2087720255
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His) rs2087720717
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys) rs746024609
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter) rs2087720794
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
NM_000355.4(TCN2):c.1164G>A (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1195C>T (p.Arg399Ter)
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro) rs4820889
NM_000355.4(TCN2):c.1206C>T (p.Asn402=) rs1569045801
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
NM_000355.4(TCN2):c.1222+11G>A
NM_000355.4(TCN2):c.1222+11G>T
NM_000355.4(TCN2):c.1222+19C>T rs2087722409
NM_000355.4(TCN2):c.1222+3G>A
NM_000355.4(TCN2):c.1223-10_1223-9del
NM_000355.4(TCN2):c.1223-15A>C
NM_000355.4(TCN2):c.1223-18C>G
NM_000355.4(TCN2):c.1223-18C>T
NM_000355.4(TCN2):c.1223-19G>C
NM_000355.4(TCN2):c.1223-20T>C
NM_000355.4(TCN2):c.1223-22_1223-20del
NM_000355.4(TCN2):c.1223-5T>G
NM_000355.4(TCN2):c.1223-6C>A
NM_000355.4(TCN2):c.1223-6C>T
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
NM_000355.4(TCN2):c.1263G>A (p.Glu421=) rs1385370129
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
NM_000355.4(TCN2):c.1284G>A (p.Ter428=) rs2145563752
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
NM_000355.4(TCN2):c.150G>A (p.Leu50=) rs921002639
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
NM_000355.4(TCN2):c.168G>A (p.Val56=) rs2145536712
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
NM_000355.4(TCN2):c.172del (p.Leu58fs) rs2145536721
NM_000355.4(TCN2):c.174A>T (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
NM_000355.4(TCN2):c.17C>A (p.Ala6Asp) rs2145528950
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
NM_000355.4(TCN2):c.18C>T (p.Ala6=)
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala) rs2087531325
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
NM_000355.4(TCN2):c.21C>T (p.Phe7=)
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg) rs75680863
NM_000355.4(TCN2):c.236del (p.Gly79fs) rs2087532435
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro) rs2087532634
NM_000355.4(TCN2):c.243G>T (p.Gln81His) rs2087532682
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000355.4(TCN2):c.24C>G (p.Leu8=)
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
NM_000355.4(TCN2):c.257+10C>T
NM_000355.4(TCN2):c.257+12C>T
NM_000355.4(TCN2):c.257+12CT[2]
NM_000355.4(TCN2):c.257+15dup
NM_000355.4(TCN2):c.257+16C>T
NM_000355.4(TCN2):c.257+17T>C
NM_000355.4(TCN2):c.257+7C>G
NM_000355.4(TCN2):c.257+7C>T
NM_000355.4(TCN2):c.258-11C>A rs746958412
NM_000355.4(TCN2):c.258-11C>G
NM_000355.4(TCN2):c.258-11C>T
NM_000355.4(TCN2):c.258-14T>G
NM_000355.4(TCN2):c.258-15C>T
NM_000355.4(TCN2):c.258-18dup
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.258-8_258-6dup
NM_000355.4(TCN2):c.258-9T>G rs2145540026
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
NM_000355.4(TCN2):c.27C>T (p.Phe9=)
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg) rs11557600
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys) rs11557600
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
NM_000355.4(TCN2):c.30T>A (p.Leu10=) rs2145528985
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
NM_000355.4(TCN2):c.31C>G (p.Leu11Val) rs2145528995
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
NM_000355.4(TCN2):c.334C>G (p.Leu112Val) rs777103002
NM_000355.4(TCN2):c.33G>A (p.Leu11=)
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
NM_000355.4(TCN2):c.344del (p.Asn115fs)
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys) rs199728304
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp) rs1602045889
NM_000355.4(TCN2):c.364C>T (p.His122Tyr) rs373115973
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly) rs552020145
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
NM_000355.4(TCN2):c.380del (p.Leu127fs)
NM_000355.4(TCN2):c.381G>A (p.Leu127=) rs2145540343
NM_000355.4(TCN2):c.38del (p.Val13fs)
NM_000355.4(TCN2):c.3G>A (p.Met1Ile)
NM_000355.4(TCN2):c.402C>T (p.Phe134=) rs781606712
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
NM_000355.4(TCN2):c.423C>T (p.Ala141=)
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
NM_000355.4(TCN2):c.426del (p.Ile142fs) rs2087564577
NM_000355.4(TCN2):c.427+10C>T
NM_000355.4(TCN2):c.427+12C>G
NM_000355.4(TCN2):c.427+17C>A
NM_000355.4(TCN2):c.427+18G>C
NM_000355.4(TCN2):c.427+18G>T rs373712632
NM_000355.4(TCN2):c.427+20T>C
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.427+3G>A
NM_000355.4(TCN2):c.427+7A>G
NM_000355.4(TCN2):c.427+8G>A
NM_000355.4(TCN2):c.427+8G>T
NM_000355.4(TCN2):c.427+9A>G
NM_000355.4(TCN2):c.428-10T>C rs2145542622
NM_000355.4(TCN2):c.428-10dup rs747673857
NM_000355.4(TCN2):c.428-11T>G
NM_000355.4(TCN2):c.428-14T>G
NM_000355.4(TCN2):c.428-17_428-16del rs754484246
NM_000355.4(TCN2):c.428-17_428-16dup
NM_000355.4(TCN2):c.428-18dup
NM_000355.4(TCN2):c.428-19_428-18del
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000355.4(TCN2):c.428-4_428-3del
NM_000355.4(TCN2):c.428-5C>G
NM_000355.4(TCN2):c.428-5C>T
NM_000355.4(TCN2):c.428-7C>G
NM_000355.4(TCN2):c.428-9C>A
NM_000355.4(TCN2):c.428-9C>T
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
NM_000355.4(TCN2):c.447C>A (p.His149Gln) rs770630089
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala) rs776493564
NM_000355.4(TCN2):c.44G>A (p.Gly15Glu)
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe) rs2145529052
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
NM_000355.4(TCN2):c.486G>A (p.Leu162=) rs199546693
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
NM_000355.4(TCN2):c.525G>C (p.Val175=)
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
NM_000355.4(TCN2):c.54T>C (p.Thr18=)
NM_000355.4(TCN2):c.559C>T (p.His187Tyr) rs1295178933
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.565G>A (p.Gly189Ser)
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
NM_000355.4(TCN2):c.570C>T (p.His190=)
NM_000355.4(TCN2):c.57G>A (p.Glu19=)
NM_000355.4(TCN2):c.580+10T>C
NM_000355.4(TCN2):c.580+17G>A rs184174370
NM_000355.4(TCN2):c.580+17G>T
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.580+20C>T
NM_000355.4(TCN2):c.580+7A>G
NM_000355.4(TCN2):c.581-15G>A
NM_000355.4(TCN2):c.581-176A>C
NM_000355.4(TCN2):c.581-176A>G
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.581-20G>A
NM_000355.4(TCN2):c.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-7C>A rs550090290
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.581-8del rs2145544168
NM_000355.4(TCN2):c.581-9dup rs2145544145
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu) rs762023960
NM_000355.4(TCN2):c.582C>T (p.Asp194=)
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser) rs2145544190
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
NM_000355.4(TCN2):c.609C>T (p.Phe203=) rs1336980912
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu) rs774581238
NM_000355.4(TCN2):c.64+12G>A
NM_000355.4(TCN2):c.64+14C>T
NM_000355.4(TCN2):c.64+15T>C
NM_000355.4(TCN2):c.64+16C>G rs2145529135
NM_000355.4(TCN2):c.64+18A>G
NM_000355.4(TCN2):c.64+19T>A
NM_000355.4(TCN2):c.64+20C>T
NM_000355.4(TCN2):c.64+4A>T
NM_000355.4(TCN2):c.64+9C>T
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
NM_000355.4(TCN2):c.643C>A (p.Arg215=) rs35838082
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
NM_000355.4(TCN2):c.65-10C>A
NM_000355.4(TCN2):c.65-10C>T
NM_000355.4(TCN2):c.65-1_65delinsTT rs2145536487
NM_000355.4(TCN2):c.65-6del rs748765421
NM_000355.4(TCN2):c.65-7T>C
NM_000355.4(TCN2):c.65-9T>C
NM_000355.4(TCN2):c.655A>G (p.Ile219Val) rs2087597138
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln) rs17849434
NM_000355.4(TCN2):c.690C>A (p.Ile230=) rs779288271
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000355.4(TCN2):c.705C>T (p.Thr235=) rs1016983766
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser) rs1382507371
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr) rs755866662
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala) rs755866662
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
NM_000355.4(TCN2):c.716A>G (p.His239Arg) rs1338313632
NM_000355.4(TCN2):c.717C>T (p.His239=)
NM_000355.4(TCN2):c.720T>C (p.Phe240=) rs368425204
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu) rs368425204
NM_000355.4(TCN2):c.729C>T (p.Val243=)
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
NM_000355.4(TCN2):c.753+14C>T
NM_000355.4(TCN2):c.753+15C>T
NM_000355.4(TCN2):c.753+18G>A
NM_000355.4(TCN2):c.753+20G>A
NM_000355.4(TCN2):c.753+7A>G rs758687066
NM_000355.4(TCN2):c.753+9G>A
NM_000355.4(TCN2):c.754-11T>A
NM_000355.4(TCN2):c.754-12C>T
NM_000355.4(TCN2):c.754-13A>G rs754588956
NM_000355.4(TCN2):c.754-13_754-10del
NM_000355.4(TCN2):c.754-14C>G
NM_000355.4(TCN2):c.754-17C>T
NM_000355.4(TCN2):c.754-18T>C
NM_000355.4(TCN2):c.754-4C>A rs72550761
NM_000355.4(TCN2):c.754-8A>G
NM_000355.4(TCN2):c.754-8_754-7del
NM_000355.4(TCN2):c.754-9dup
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
NM_000355.4(TCN2):c.772A>G (p.Met258Val) rs781666065
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
NM_000355.4(TCN2):c.776G>A (p.Arg259His) rs1801198
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe) rs2145544995
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr) rs1329472979
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
NM_000355.4(TCN2):c.843A>T (p.Gly281=) rs979235252
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
NM_000355.4(TCN2):c.858T>G (p.Ala286=) rs988793927
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala) rs1423032257
NM_000355.4(TCN2):c.86_87del (p.His29fs) rs2087528394
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu) rs2087603700
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
NM_000355.4(TCN2):c.879G>A (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.879G>T (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.882C>A (p.Pro294=)
NM_000355.4(TCN2):c.882del (p.Val295fs) rs2145545140
NM_000355.4(TCN2):c.885T>C (p.Val295=)
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu) rs2087604329
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
NM_000355.4(TCN2):c.91G>A (p.Val31Ile) rs2087528743
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr) rs1396153308
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser) rs1396153308
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly) rs747257199
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
NM_000355.4(TCN2):c.940+10C>A
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
NM_000355.4(TCN2):c.940+3A>G rs780965553
NM_000355.4(TCN2):c.941-13C>A
NM_000355.4(TCN2):c.941-13C>G
NM_000355.4(TCN2):c.941-14T>C
NM_000355.4(TCN2):c.941-17C>G
NM_000355.4(TCN2):c.941-17C>T
NM_000355.4(TCN2):c.941-18C>T
NM_000355.4(TCN2):c.941-2A>G
NM_000355.4(TCN2):c.941-4A>G
NM_000355.4(TCN2):c.941-5C>T
NM_000355.4(TCN2):c.941-8T>C rs2145547976
NM_000355.4(TCN2):c.941-9_941-5del rs1602050074
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
NM_000355.4(TCN2):c.987C>A (p.Ile329=) rs755892011
NM_000355.4(TCN2):c.987C>G (p.Ile329Met) rs755892011
NM_000355.4(TCN2):c.988A>G (p.Ile330Val) rs1169605273
NM_000355.4(TCN2):c.997dup (p.Thr333fs) rs2145548128
NM_000355.4(TCN2):c.9C>G (p.His3Gln) rs1489889957
NM_001062.4(TCN1):c.1015T>G (p.Ser339Ala)
NM_001062.4(TCN1):c.1071C>A (p.Val357=)
NM_001062.4(TCN1):c.1122-19T>C
NM_001062.4(TCN1):c.112C>A (p.Pro38Thr) rs1853046279
NM_001062.4(TCN1):c.1151C>T (p.Pro384Leu) rs745735811
NM_001062.4(TCN1):c.1171G>T (p.Gly391Cys)
NM_001062.4(TCN1):c.1173C>T (p.Gly391=)
NM_001062.4(TCN1):c.1229C>G (p.Pro410Arg)
NM_001062.4(TCN1):c.1229C>T (p.Pro410Leu) rs751107761
NM_001062.4(TCN1):c.1232T>C (p.Leu411Pro)
NM_001062.4(TCN1):c.1241-16T>G
NM_001062.4(TCN1):c.1286G>A (p.Arg429His)
NM_001062.4(TCN1):c.128T>C (p.Met43Thr)
NM_001062.4(TCN1):c.152G>C (p.Gly51Ala) rs548081467
NM_001062.4(TCN1):c.159C>T (p.Ser53=) rs200361212
NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)
NM_001062.4(TCN1):c.166A>T (p.Asn56Tyr)
NM_001062.4(TCN1):c.173T>C (p.Val58Ala)
NM_001062.4(TCN1):c.180C>T (p.Ser60=)
NM_001062.4(TCN1):c.210C>G (p.Thr70=)
NM_001062.4(TCN1):c.21G>T (p.Leu7=)
NM_001062.4(TCN1):c.259+11del
NM_001062.4(TCN1):c.260-10T>C rs2135110203
NM_001062.4(TCN1):c.260-15T>C
NM_001062.4(TCN1):c.275C>T (p.Ser92Leu)
NM_001062.4(TCN1):c.276G>A (p.Ser92=)
NM_001062.4(TCN1):c.300G>A (p.Leu100=)
NM_001062.4(TCN1):c.344A>T (p.Asp115Val) rs780641711
NM_001062.4(TCN1):c.401-15T>G
NM_001062.4(TCN1):c.414C>G (p.Gly138=)
NM_001062.4(TCN1):c.435C>T (p.Tyr145=)
NM_001062.4(TCN1):c.489C>G (p.Thr163=) rs185999138
NM_001062.4(TCN1):c.489C>T (p.Thr163=) rs185999138
NM_001062.4(TCN1):c.505C>T (p.His169Tyr) rs1273915693
NM_001062.4(TCN1):c.524_530del (p.Lys175fs)
NM_001062.4(TCN1):c.54T>A (p.Ile18=)
NM_001062.4(TCN1):c.557A>C (p.Asp186Ala) rs1346783372
NM_001062.4(TCN1):c.587C>T (p.Thr196Ile)
NM_001062.4(TCN1):c.596AGA[1] (p.Lys200del)
NM_001062.4(TCN1):c.597G>T (p.Lys199Asn) rs200450074
NM_001062.4(TCN1):c.614G>A (p.Gly205Glu)
NM_001062.4(TCN1):c.622A>G (p.Lys208Glu)
NM_001062.4(TCN1):c.648C>T (p.Asn216=)
NM_001062.4(TCN1):c.660T>C (p.Tyr220=)
NM_001062.4(TCN1):c.662C>T (p.Thr221Ile)
NM_001062.4(TCN1):c.69C>A (p.Cys23Ter) rs749820775
NM_001062.4(TCN1):c.69C>T (p.Cys23=) rs749820775
NM_001062.4(TCN1):c.79+16G>A
NM_001062.4(TCN1):c.79+17C>A
NM_001062.4(TCN1):c.80-6C>T
NM_001062.4(TCN1):c.82del (p.Glu27_Val28insTer)
NM_001062.4(TCN1):c.909C>T (p.Asn303=)
NM_001062.4(TCN1):c.937+17G>T
NM_001062.4(TCN1):c.994T>G (p.Ser332Ala) rs1852912432
NM_001062.4(TCN1):c.9G>T (p.Gln3His)
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10011A>G (p.Leu3337=)
NM_001081.4(CUBN):c.10032+10A>G
NM_001081.4(CUBN):c.10032+9T>C
NM_001081.4(CUBN):c.10033-15C>T
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.1003G>C (p.Ala335Pro)
NM_001081.4(CUBN):c.10049G>T (p.Arg3350Ile)
NM_001081.4(CUBN):c.10061G>C (p.Cys3354Ser)
NM_001081.4(CUBN):c.10066A>G (p.Arg3356Gly)
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10084C>T (p.Pro3362Ser)
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
NM_001081.4(CUBN):c.10120A>G (p.Ile3374Val)
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1015+11G>A
NM_001081.4(CUBN):c.1015+17A>T
NM_001081.4(CUBN):c.1015+1G>A
NM_001081.4(CUBN):c.1015+8C>T
NM_001081.4(CUBN):c.1016-14C>T
NM_001081.4(CUBN):c.1016-18G>A
NM_001081.4(CUBN):c.10172A>G (p.Gln3391Arg)
NM_001081.4(CUBN):c.10176T>G (p.Ile3392Met)
NM_001081.4(CUBN):c.10181-9del
NM_001081.4(CUBN):c.10196A>T (p.Tyr3399Phe)
NM_001081.4(CUBN):c.10222A>C (p.Ser3408Arg)
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) rs147730705
NM_001081.4(CUBN):c.10246G>A (p.Asp3416Asn)
NM_001081.4(CUBN):c.10246_10258del (p.Asp3416fs)
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
NM_001081.4(CUBN):c.10283C>T (p.Pro3428Leu)
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10295C>T (p.Thr3432Ile) rs7898873
NM_001081.4(CUBN):c.1029C>T (p.Asp343=)
NM_001081.4(CUBN):c.10311dup (p.His3438fs)
NM_001081.4(CUBN):c.10313A>G (p.His3438Arg)
NM_001081.4(CUBN):c.10363-6C>G
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10380C>T (p.Asn3460=)
NM_001081.4(CUBN):c.10383C>A (p.Ser3461Arg)
NM_001081.4(CUBN):c.10397T>A (p.Leu3466Gln)
NM_001081.4(CUBN):c.10397T>C (p.Leu3466Pro)
NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
NM_001081.4(CUBN):c.10492C>T (p.Arg3498Cys)
NM_001081.4(CUBN):c.10493G>A (p.Arg3498His)
NM_001081.4(CUBN):c.10495G>A (p.Gly3499Arg)
NM_001081.4(CUBN):c.1049C>T (p.Thr350Ile)
NM_001081.4(CUBN):c.10503A>G (p.Glu3501=)
NM_001081.4(CUBN):c.10513A>G (p.Thr3505Ala)
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)
NM_001081.4(CUBN):c.10522C>T (p.Pro3508Ser)
NM_001081.4(CUBN):c.10524C>T (p.Pro3508=)
NM_001081.4(CUBN):c.10526C>G (p.Ser3509Cys)
NM_001081.4(CUBN):c.10528+1G>A
NM_001081.4(CUBN):c.10529-3C>T rs1838885191
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
NM_001081.4(CUBN):c.10547A>T (p.Tyr3516Phe)
NM_001081.4(CUBN):c.10557_10558del (p.Gly3520fs)
NM_001081.4(CUBN):c.10582C>G (p.Pro3528Ala)
NM_001081.4(CUBN):c.10591T>C (p.Tyr3531His) rs1388282481
NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys) rs756614749
NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10673T>C (p.Ile3558Thr)
NM_001081.4(CUBN):c.10680T>C (p.Asp3560=)
NM_001081.4(CUBN):c.10695C>G (p.Val3565=)
NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.1073G>A (p.Gly358Glu)
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10758C>T (p.Cys3586=)
NM_001081.4(CUBN):c.10764+11C>T rs2131299503
NM_001081.4(CUBN):c.10764+16A>G
NM_001081.4(CUBN):c.10765-10dup
NM_001081.4(CUBN):c.10765-18T>A
NM_001081.4(CUBN):c.10765-2A>G
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10777G>T (p.Ala3593Ser)
NM_001081.4(CUBN):c.10798A>C (p.Asn3600His) rs763168436
NM_001081.4(CUBN):c.10798A>T (p.Asn3600Tyr)
NM_001081.4(CUBN):c.10806C>G (p.Val3602=)
NM_001081.4(CUBN):c.10832C>T (p.Ala3611Val)
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.10867dup (p.Ser3623fs)
NM_001081.4(CUBN):c.10868G>C (p.Ser3623Thr)
NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly) rs138044409
NM_001081.4(CUBN):c.1097G>C (p.Cys366Ser) rs1564518870
NM_001081.4(CUBN):c.1107T>A (p.Thr369=)
NM_001081.4(CUBN):c.1111+11A>G
NM_001081.4(CUBN):c.1121C>T (p.Pro374Leu)
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr) rs2131302483
NM_001081.4(CUBN):c.1139C>T (p.Pro380Leu)
NM_001081.4(CUBN):c.1171G>A (p.Gly391Arg)
NM_001081.4(CUBN):c.1173A>T (p.Gly391=)
NM_001081.4(CUBN):c.1185C>T (p.Leu395=)
NM_001081.4(CUBN):c.1186A>G (p.Ser396Gly)
NM_001081.4(CUBN):c.1210T>G (p.Cys404Gly) rs2131302341
NM_001081.4(CUBN):c.122+14T>C
NM_001081.4(CUBN):c.122+7A>G
NM_001081.4(CUBN):c.1220G>A (p.Gly407Glu)
NM_001081.4(CUBN):c.123-11G>T
NM_001081.4(CUBN):c.123-16C>T rs2281648
NM_001081.4(CUBN):c.123-4A>G
NM_001081.4(CUBN):c.1230+18C>G
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1230+20T>C
NM_001081.4(CUBN):c.1231-10T>C
NM_001081.4(CUBN):c.1231-9T>C
NM_001081.4(CUBN):c.1231-9del
NM_001081.4(CUBN):c.1252del (p.Cys418fs)
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
NM_001081.4(CUBN):c.1301A>G (p.Asn434Ser)
NM_001081.4(CUBN):c.1316A>G (p.Asn439Ser)
NM_001081.4(CUBN):c.1342G>A (p.Val448Ile) rs2131301048
NM_001081.4(CUBN):c.1351G>C (p.Val451Leu)
NM_001081.4(CUBN):c.1363A>C (p.Ser455Arg)
NM_001081.4(CUBN):c.1378C>T (p.Arg460Cys)
NM_001081.4(CUBN):c.1379G>A (p.Arg460His)
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1405G>T (p.Val469Phe)
NM_001081.4(CUBN):c.1415_1416delinsGAT (p.Gln472fs)
NM_001081.4(CUBN):c.1418-16A>T
NM_001081.4(CUBN):c.1421del (p.Cys474fs)
NM_001081.4(CUBN):c.1424G>A (p.Gly475Glu)
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.4(CUBN):c.1452C>G (p.Ser484Arg)
NM_001081.4(CUBN):c.1453T>G (p.Phe485Val)
NM_001081.4(CUBN):c.1474G>T (p.Val492Phe) rs753563615
NM_001081.4(CUBN):c.1479T>C (p.Gly493=)
NM_001081.4(CUBN):c.1492G>A (p.Val498Ile)
NM_001081.4(CUBN):c.1512C>G (p.Ile504Met)
NM_001081.4(CUBN):c.1523T>C (p.Met508Thr)
NM_001081.4(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.4(CUBN):c.1530+14C>A
NM_001081.4(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.4(CUBN):c.1537C>T (p.Arg513Cys)
NM_001081.4(CUBN):c.1538G>A (p.Arg513His)
NM_001081.4(CUBN):c.1543A>T (p.Thr515Ser)
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
NM_001081.4(CUBN):c.1549A>G (p.Thr517Ala)
NM_001081.4(CUBN):c.154G>T (p.Val52Leu)
NM_001081.4(CUBN):c.1553T>C (p.Phe518Ser) rs2131296213
NM_001081.4(CUBN):c.1559G>A (p.Arg520Gln)
NM_001081.4(CUBN):c.1559G>T (p.Arg520Leu)
NM_001081.4(CUBN):c.1567T>C (p.Ser523Pro)
NM_001081.4(CUBN):c.1570A>G (p.Met524Val)
NM_001081.4(CUBN):c.1576A>G (p.Asn526Asp)
NM_001081.4(CUBN):c.1586A>G (p.His529Arg)
NM_001081.4(CUBN):c.1616C>T (p.Ser539Phe)
NM_001081.4(CUBN):c.1634T>G (p.Leu545Arg)
NM_001081.4(CUBN):c.1662T>A (p.Pro554=) rs2131296039
NM_001081.4(CUBN):c.1674C>T (p.Leu558=)
NM_001081.4(CUBN):c.1685A>G (p.Asn562Ser)
NM_001081.4(CUBN):c.1688C>T (p.Ala563Val) rs2131295988
NM_001081.4(CUBN):c.1712A>G (p.Glu571Gly)
NM_001081.4(CUBN):c.1735T>A (p.Phe579Ile)
NM_001081.4(CUBN):c.1739C>G (p.Thr580Arg)
NM_001081.4(CUBN):c.1747T>C (p.Trp583Arg)
NM_001081.4(CUBN):c.1752A>T (p.Glu584Asp)
NM_001081.4(CUBN):c.1765+12C>A
NM_001081.4(CUBN):c.1766-10C>G rs2131869671
NM_001081.4(CUBN):c.1766-14C>T
NM_001081.4(CUBN):c.1777A>T (p.Ile593Phe)
NM_001081.4(CUBN):c.1788T>C (p.Gly596=)
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
NM_001081.4(CUBN):c.17T>C (p.Leu6Ser)
NM_001081.4(CUBN):c.1805A>T (p.Lys602Met)
NM_001081.4(CUBN):c.1819C>A (p.Pro607Thr)
NM_001081.4(CUBN):c.181A>T (p.Ile61Phe)
NM_001081.4(CUBN):c.1831C>T (p.Pro611Ser)
NM_001081.4(CUBN):c.1833C>T (p.Pro611=) rs1215660752
NM_001081.4(CUBN):c.1837G>A (p.Gly613Arg)
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.4(CUBN):c.1844A>G (p.Asp615Gly)
NM_001081.4(CUBN):c.1887A>G (p.Thr629=) rs2131869453
NM_001081.4(CUBN):c.1892del (p.Thr631fs) rs2131869439
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.1915C>A (p.His639Asn) rs370816201
NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)
NM_001081.4(CUBN):c.192A>G (p.Arg64=)
NM_001081.4(CUBN):c.1934A>G (p.Lys645Arg)
NM_001081.4(CUBN):c.1942C>T (p.Leu648Phe) rs2131869310
NM_001081.4(CUBN):c.1947+19A>G
NM_001081.4(CUBN):c.1948-7G>C
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
NM_001081.4(CUBN):c.1953A>C (p.Arg651=) rs2131865611
NM_001081.4(CUBN):c.1965G>A (p.Leu655=)
NM_001081.4(CUBN):c.1972G>A (p.Asp658Asn)
NM_001081.4(CUBN):c.1973A>G (p.Asp658Gly)
NM_001081.4(CUBN):c.1996A>C (p.Thr666Pro)
NM_001081.4(CUBN):c.1997C>T (p.Thr666Ile)
NM_001081.4(CUBN):c.2015C>G (p.Pro672Arg) rs776433038
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
NM_001081.4(CUBN):c.2017C>T (p.Leu673Phe)
NM_001081.4(CUBN):c.2032C>G (p.Pro678Ala) rs1348130743
NM_001081.4(CUBN):c.2053dup (p.His685fs)
NM_001081.4(CUBN):c.2067G>A (p.Gln689=)
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.4(CUBN):c.2077C>G (p.Gln693Glu) rs2131865388
NM_001081.4(CUBN):c.2087A>G (p.His696Arg)
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
NM_001081.4(CUBN):c.2110+10C>A rs752409034
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110+17T>C
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2111-15C>G
NM_001081.4(CUBN):c.2111-19G>A
NM_001081.4(CUBN):c.2111-20C>T
NM_001081.4(CUBN):c.2111-5C>T
NM_001081.4(CUBN):c.2132A>G (p.Asn711Ser)
NM_001081.4(CUBN):c.2135A>G (p.Tyr712Cys)
NM_001081.4(CUBN):c.2139G>A (p.Thr713=)
NM_001081.4(CUBN):c.2145A>G (p.Pro715=)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2153A>C (p.Glu718Ala)
NM_001081.4(CUBN):c.2157C>G (p.Leu719=) rs2131863775
NM_001081.4(CUBN):c.2164C>T (p.Pro722Ser)
NM_001081.4(CUBN):c.2184C>T (p.Phe728=) rs1836051485
NM_001081.4(CUBN):c.2191_2192del (p.Thr731fs) rs2131863686
NM_001081.4(CUBN):c.2192C>T (p.Thr731Ile)
NM_001081.4(CUBN):c.2256C>A (p.His752Gln)
NM_001081.4(CUBN):c.2257G>A (p.Val753Met)
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
NM_001081.4(CUBN):c.2275A>G (p.Ser759Gly)
NM_001081.4(CUBN):c.2294A>G (p.Tyr765Cys)
NM_001081.4(CUBN):c.22T>C (p.Phe8Leu)
NM_001081.4(CUBN):c.2301+10A>T rs1371114573
NM_001081.4(CUBN):c.2301+18A>G rs202001092
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)
NM_001081.4(CUBN):c.2302G>T (p.Val768Phe)
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) rs776704427
NM_001081.4(CUBN):c.2309A>T (p.Asp770Val)
NM_001081.4(CUBN):c.2322A>C (p.Leu774Phe)
NM_001081.4(CUBN):c.2329A>G (p.Lys777Glu)
NM_001081.4(CUBN):c.2343C>T (p.Asn781=)
NM_001081.4(CUBN):c.2349C>G (p.Thr783=)
NM_001081.4(CUBN):c.236G>A (p.Ser79Asn)
NM_001081.4(CUBN):c.2375A>G (p.Asn792Ser)
NM_001081.4(CUBN):c.240G>C (p.Glu80Asp)
NM_001081.4(CUBN):c.2446+14T>C
NM_001081.4(CUBN):c.2446+14_2446+15del rs752528712
NM_001081.4(CUBN):c.2446+9A>G
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2447-20T>G
NM_001081.4(CUBN):c.2447-9T>C
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
NM_001081.4(CUBN):c.2455G>A (p.Asp819Asn)
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
NM_001081.4(CUBN):c.2470G>A (p.Glu824Lys)
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.4(CUBN):c.2490T>A (p.Pro830=)
NM_001081.4(CUBN):c.2493T>C (p.Phe831=)
NM_001081.4(CUBN):c.2495T>G (p.Phe832Cys)
NM_001081.4(CUBN):c.2496T>G (p.Phe832Leu)
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.252+1G>A rs386833776
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
NM_001081.4(CUBN):c.2528G>T (p.Arg843Met)
NM_001081.4(CUBN):c.253-16C>A
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
NM_001081.4(CUBN):c.2578del (p.Val860fs)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2628T>G (p.Ile876Met)
NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly) rs563114115
NM_001081.4(CUBN):c.2637T>C (p.Ser879=)
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2674G>A (p.Gly892Ser)
NM_001081.4(CUBN):c.2678C>T (p.Thr893Ile)
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)
NM_001081.4(CUBN):c.2733G>T (p.Val911=)
NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
NM_001081.4(CUBN):c.2767G>A (p.Ala923Thr)
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)
NM_001081.4(CUBN):c.2790G>C (p.Leu930Phe)
NM_001081.4(CUBN):c.2791+16dup
NM_001081.4(CUBN):c.2791+19T>C
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2792-5_2795del
NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
NM_001081.4(CUBN):c.2810C>G (p.Thr937Arg) rs200383906
NM_001081.4(CUBN):c.2827A>T (p.Ile943Phe)
NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.2860C>G (p.His954Asp)
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
NM_001081.4(CUBN):c.2876C>G (p.Thr959Ser)
NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser) rs200851536
NM_001081.4(CUBN):c.2954G>A (p.Cys985Tyr)
NM_001081.4(CUBN):c.2980G>T (p.Asp994Tyr)
NM_001081.4(CUBN):c.2985C>T (p.Thr995=)
NM_001081.4(CUBN):c.3008+2_3008+5del rs2131844654
NM_001081.4(CUBN):c.3008+9_3008+12dup rs772081536
NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
NM_001081.4(CUBN):c.302G>A (p.Gly101Asp)
NM_001081.4(CUBN):c.3044G>T (p.Ser1015Ile)
NM_001081.4(CUBN):c.3049G>A (p.Gly1017Ser) rs1207798792
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
NM_001081.4(CUBN):c.3103T>G (p.Phe1035Val)
NM_001081.4(CUBN):c.3105C>T (p.Phe1035=) rs2131842230
NM_001081.4(CUBN):c.3124A>T (p.Ile1042Phe)
NM_001081.4(CUBN):c.3127A>G (p.Ser1043Gly)
NM_001081.4(CUBN):c.312A>G (p.Gln104=)
NM_001081.4(CUBN):c.3138del (p.Ala1047fs)
NM_001081.4(CUBN):c.3139+15T>C
NM_001081.4(CUBN):c.313A>G (p.Asn105Asp)
NM_001081.4(CUBN):c.3140-19G>A
NM_001081.4(CUBN):c.3143G>A (p.Cys1048Tyr)
NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)
NM_001081.4(CUBN):c.3197A>G (p.Asn1066Ser)
NM_001081.4(CUBN):c.3210C>A (p.Asn1070Lys)
NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)
NM_001081.4(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln) rs184585798
NM_001081.4(CUBN):c.3238G>A (p.Val1080Met) rs2131822280
NM_001081.4(CUBN):c.3295A>G (p.Ile1099Val)
NM_001081.4(CUBN):c.3329+12_3329+16del
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3329+8C>A
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3330-9T>G
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln) rs1325425384
NM_001081.4(CUBN):c.3424A>C (p.Lys1142Gln)
NM_001081.4(CUBN):c.3443T>C (p.Ile1148Thr)
NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
NM_001081.4(CUBN):c.3464C>T (p.Ser1155Leu)
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.3477T>C (p.Asp1159=) rs2131820566
NM_001081.4(CUBN):c.347A>G (p.Lys116Arg)
NM_001081.4(CUBN):c.348+18G>A
NM_001081.4(CUBN):c.348+4A>G
NM_001081.4(CUBN):c.348G>A (p.Lys116=)
NM_001081.4(CUBN):c.349-11C>T
NM_001081.4(CUBN):c.349-13T>G
NM_001081.4(CUBN):c.3490+16C>G
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3551C>T (p.Pro1184Leu)
NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)
NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3616G>A (p.Glu1206Lys)
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
NM_001081.4(CUBN):c.3656C>G (p.Thr1219Ser)
NM_001081.4(CUBN):c.3672+17C>T
NM_001081.4(CUBN):c.3672+2T>C
NM_001081.4(CUBN):c.3672+5G>C
NM_001081.4(CUBN):c.3674T>C (p.Val1225Ala)
NM_001081.4(CUBN):c.3685C>G (p.Pro1229Ala)
NM_001081.4(CUBN):c.3718T>G (p.Cys1240Gly)
NM_001081.4(CUBN):c.3743T>C (p.Ile1248Thr)
NM_001081.4(CUBN):c.3745C>A (p.Arg1249Ser)
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.4(CUBN):c.3752G>T (p.Ser1251Ile)
NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
NM_001081.4(CUBN):c.3788A>G (p.Glu1263Gly)
NM_001081.4(CUBN):c.37C>T (p.Leu13Phe)
NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3829+1G>A
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter) rs374695194
NM_001081.4(CUBN):c.3830-15C>T
NM_001081.4(CUBN):c.3832T>C (p.Cys1278Arg)
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
NM_001081.4(CUBN):c.387+11dup
NM_001081.4(CUBN):c.387+16C>T rs766616600
NM_001081.4(CUBN):c.3894T>A (p.Asn1298Lys)
NM_001081.4(CUBN):c.3899A>T (p.Tyr1300Phe)
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.3931C>G (p.Arg1311Gly)
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.3960C>T (p.Tyr1320=)
NM_001081.4(CUBN):c.397A>G (p.Lys133Glu)
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.4005A>G (p.Thr1335=)
NM_001081.4(CUBN):c.400A>G (p.Lys134Glu)
NM_001081.4(CUBN):c.4015G>C (p.Glu1339Gln)
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)
NM_001081.4(CUBN):c.4045C>A (p.Arg1349Ser)
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4072C>A (p.Pro1358Thr)
NM_001081.4(CUBN):c.4094A>G (p.Lys1365Arg) rs2131782772
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4104G>T (p.Val1368=) rs1480495431
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.4(CUBN):c.4130G>A (p.Arg1377His)
NM_001081.4(CUBN):c.4133G>A (p.Arg1378His)
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4168+17T>A
NM_001081.4(CUBN):c.4169-13del
NM_001081.4(CUBN):c.4169-15T>C
NM_001081.4(CUBN):c.4169-17C>A
NM_001081.4(CUBN):c.4169-18A>G
NM_001081.4(CUBN):c.4171T>C (p.Cys1391Arg)
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4214C>T (p.Pro1405Leu)
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
NM_001081.4(CUBN):c.4229G>A (p.Arg1410Lys)
NM_001081.4(CUBN):c.424C>A (p.Gln142Lys)
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter) rs765941616
NM_001081.4(CUBN):c.4264A>G (p.Arg1422Gly)
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
NM_001081.4(CUBN):c.4276G>A (p.Gly1426Arg)
NM_001081.4(CUBN):c.4280G>C (p.Ser1427Thr) rs754229455
NM_001081.4(CUBN):c.4283G>C (p.Ser1428Thr)
NM_001081.4(CUBN):c.4295C>T (p.Thr1432Ile)
NM_001081.4(CUBN):c.4302T>C (p.His1434=) rs2131715844
NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
NM_001081.4(CUBN):c.4322A>G (p.His1441Arg)
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.4(CUBN):c.4350+13A>G
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4350+8G>A
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4351-6T>C
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
NM_001081.4(CUBN):c.4361G>A (p.Gly1454Asp)
NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.4376C>T (p.Ser1459Phe)
NM_001081.4(CUBN):c.4378C>T (p.Pro1460Ser)
NM_001081.4(CUBN):c.4397G>A (p.Cys1466Tyr)
NM_001081.4(CUBN):c.4426C>G (p.Gln1476Glu) rs867893935
NM_001081.4(CUBN):c.4448A>C (p.Glu1483Ala)
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser) rs2131700976
NM_001081.4(CUBN):c.4502C>A (p.Ala1501Glu)
NM_001081.4(CUBN):c.4526-10C>T
NM_001081.4(CUBN):c.4526-9C>A rs752803274
NM_001081.4(CUBN):c.4526-9del
NM_001081.4(CUBN):c.4529G>A (p.Cys1510Tyr)
NM_001081.4(CUBN):c.4562T>C (p.Ile1521Thr)
NM_001081.4(CUBN):c.4562_4563delinsCA (p.Ile1521Thr)
NM_001081.4(CUBN):c.4573A>G (p.Asn1525Asp)
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg) rs1251118545
NM_001081.4(CUBN):c.4603G>A (p.Asp1535Asn)
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.463T>G (p.Phe155Val) rs2131324118
NM_001081.4(CUBN):c.4640G>A (p.Arg1547His)
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
NM_001081.4(CUBN):c.4676C>A (p.Pro1559Gln)
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4691_4695+3del
NM_001081.4(CUBN):c.4695+1G>T
NM_001081.4(CUBN):c.4695+5G>A
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.4727G>A (p.Arg1576His)
NM_001081.4(CUBN):c.4743T>G (p.Cys1581Trp)
NM_001081.4(CUBN):c.475C>A (p.Pro159Thr)
NM_001081.4(CUBN):c.476C>T (p.Pro159Leu)
NM_001081.4(CUBN):c.4770C>G (p.Ile1590Met)
NM_001081.4(CUBN):c.4771G>A (p.Val1591Ile)
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
NM_001081.4(CUBN):c.4779A>G (p.Ser1593=)
NM_001081.4(CUBN):c.4799G>A (p.Arg1600Lys)
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) rs1588515934
NM_001081.4(CUBN):c.4819A>G (p.Arg1607Gly)
NM_001081.4(CUBN):c.4823A>G (p.Gln1608Arg)
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
NM_001081.4(CUBN):c.4844A>G (p.Gln1615Arg)
NM_001081.4(CUBN):c.4855+1G>A
NM_001081.4(CUBN):c.4855+20T>C
NM_001081.4(CUBN):c.4856-13G>C
NM_001081.4(CUBN):c.4856-16T>C rs2131629888
NM_001081.4(CUBN):c.4869C>T (p.His1623=)
NM_001081.4(CUBN):c.4873C>T (p.Leu1625Phe)
NM_001081.4(CUBN):c.4877C>T (p.Thr1626Ile)
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.489+19G>A
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.489+3G>A rs555885592
NM_001081.4(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.4(CUBN):c.490-4A>T
NM_001081.4(CUBN):c.490-8G>A
NM_001081.4(CUBN):c.490-8G>C
NM_001081.4(CUBN):c.4912C>T (p.Pro1638Ser)
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4931A>G (p.Asn1644Ser)
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4963C>A (p.Pro1655Thr)
NM_001081.4(CUBN):c.4969+1G>A
NM_001081.4(CUBN):c.4969+2T>G
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
NM_001081.4(CUBN):c.4970-16C>T
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.4987T>C (p.Ser1663Pro)
NM_001081.4(CUBN):c.4A>G (p.Met2Val)
NM_001081.4(CUBN):c.5005C>A (p.Leu1669Ile)
NM_001081.4(CUBN):c.5008G>C (p.Glu1670Gln)
NM_001081.4(CUBN):c.5011A>G (p.Arg1671Gly)
NM_001081.4(CUBN):c.5022G>A (p.Thr1674=) rs528059511
NM_001081.4(CUBN):c.5032G>A (p.Asp1678Asn)
NM_001081.4(CUBN):c.5068G>A (p.Ala1690Thr)
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
NM_001081.4(CUBN):c.5074del (p.Leu1692fs)
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
NM_001081.4(CUBN):c.5080+11G>A
NM_001081.4(CUBN):c.5080+9_5080+19del
NM_001081.4(CUBN):c.5132C>T (p.Ala1711Val)
NM_001081.4(CUBN):c.5143A>G (p.Arg1715Gly)
NM_001081.4(CUBN):c.5149G>T (p.Val1717Phe)
NM_001081.4(CUBN):c.5161A>G (p.Ser1721Gly)
NM_001081.4(CUBN):c.5169dup (p.Ala1724fs)
NM_001081.4(CUBN):c.5170G>A (p.Ala1724Thr)
NM_001081.4(CUBN):c.5173G>A (p.Gly1725Arg)
NM_001081.4(CUBN):c.517G>A (p.Glu173Lys)
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
NM_001081.4(CUBN):c.5197G>A (p.Ala1733Thr)
NM_001081.4(CUBN):c.5208G>A (p.Ser1736=)
NM_001081.4(CUBN):c.5209+1G>A
NM_001081.4(CUBN):c.5209+2T>C
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser) rs2131619882
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
NM_001081.4(CUBN):c.5285T>C (p.Val1762Ala)
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5307C>T (p.Val1769=)
NM_001081.4(CUBN):c.5312C>T (p.Ser1771Phe)
NM_001081.4(CUBN):c.5317G>T (p.Gly1773Cys)
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.5324G>A (p.Arg1775Gln)
NM_001081.4(CUBN):c.5338T>C (p.Phe1780Leu)
NM_001081.4(CUBN):c.5342+20G>A
NM_001081.4(CUBN):c.5342+8delinsAG
NM_001081.4(CUBN):c.5343-10C>T
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-12del
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5343-7dup rs754346653
NM_001081.4(CUBN):c.5351A>G (p.Gln1784Arg)
NM_001081.4(CUBN):c.5395C>G (p.Arg1799Gly)
NM_001081.4(CUBN):c.5395C>T (p.Arg1799Cys)
NM_001081.4(CUBN):c.5411C>T (p.Thr1804Met)
NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
NM_001081.4(CUBN):c.5414dup (p.His1806fs)
NM_001081.4(CUBN):c.5434T>C (p.Cys1812Arg)
NM_001081.4(CUBN):c.5468T>C (p.Ile1823Thr)
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5521A>T (p.Thr1841Ser)
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.4(CUBN):c.5539T>C (p.Phe1847Leu)
NM_001081.4(CUBN):c.5549-1G>A
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5566A>T (p.Ile1856Phe)
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5590G>A (p.Ala1864Thr)
NM_001081.4(CUBN):c.5594C>T (p.Ser1865Phe)
NM_001081.4(CUBN):c.5597C>G (p.Pro1866Arg)
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5600T>C (p.Phe1867Ser)
NM_001081.4(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.4(CUBN):c.5617C>T (p.Pro1873Ser)
NM_001081.4(CUBN):c.5621A>G (p.His1874Arg)
NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)
NM_001081.4(CUBN):c.564_566delinsGAA (p.Thr189Lys)
NM_001081.4(CUBN):c.5665G>A (p.Val1889Ile)
NM_001081.4(CUBN):c.5672A>G (p.His1891Arg)
NM_001081.4(CUBN):c.5677A>G (p.Arg1893Gly)
NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)
NM_001081.4(CUBN):c.5717A>G (p.Tyr1906Cys)
NM_001081.4(CUBN):c.5733+15G>A
NM_001081.4(CUBN):c.5733+3G>A
NM_001081.4(CUBN):c.5733+9C>T
NM_001081.4(CUBN):c.5738A>G (p.Tyr1913Cys)
NM_001081.4(CUBN):c.5752A>G (p.Ile1918Val) rs1842556433
NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)
NM_001081.4(CUBN):c.5783G>T (p.Gly1928Val)
NM_001081.4(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.4(CUBN):c.5810C>A (p.Thr1937Asn)
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5846C>T (p.Ser1949Phe)
NM_001081.4(CUBN):c.5856del (p.Lys1954fs)
NM_001081.4(CUBN):c.5858G>C (p.Gly1953Ala)
NM_001081.4(CUBN):c.5860A>G (p.Lys1954Glu)
NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
NM_001081.4(CUBN):c.5879G>T (p.Trp1960Leu)
NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
NM_001081.4(CUBN):c.5893G>A (p.Ala1965Thr)
NM_001081.4(CUBN):c.5903G>A (p.Gly1968Asp)
NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5911C>G (p.Pro1971Ala)
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)
NM_001081.4(CUBN):c.5926+13A>T
NM_001081.4(CUBN):c.5927-14T>C
NM_001081.4(CUBN):c.5927-19G>A
NM_001081.4(CUBN):c.5927-1G>A
NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
NM_001081.4(CUBN):c.594-16C>T
NM_001081.4(CUBN):c.594-18C>T rs1836875187
NM_001081.4(CUBN):c.5943C>A (p.Phe1981Leu)
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
NM_001081.4(CUBN):c.5979C>T (p.Ser1993=) rs2131594919
NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
NM_001081.4(CUBN):c.6011T>G (p.Val2004Gly)
NM_001081.4(CUBN):c.6016T>G (p.Cys2006Gly)
NM_001081.4(CUBN):c.6047C>T (p.Thr2016Ile)
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr) rs2131594633
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=) rs141470763
NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
NM_001081.4(CUBN):c.6118C>A (p.Arg2040=) rs770636895
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)
NM_001081.4(CUBN):c.6125-4G>A
NM_001081.4(CUBN):c.6127G>A (p.Asp2043Asn)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
NM_001081.4(CUBN):c.615G>T (p.Thr205=)
NM_001081.4(CUBN):c.6178G>C (p.Gly2060Arg)
NM_001081.4(CUBN):c.6188G>A (p.Arg2063Gln)
NM_001081.4(CUBN):c.6198A>T (p.Gly2066=)
NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
NM_001081.4(CUBN):c.6211A>T (p.Ile2071Phe)
NM_001081.4(CUBN):c.6228C>G (p.Asp2076Glu)
NM_001081.4(CUBN):c.622C>T (p.Pro208Ser)
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
NM_001081.4(CUBN):c.626A>G (p.Gln209Arg)
NM_001081.4(CUBN):c.6271+12A>G
NM_001081.4(CUBN):c.6271A>T (p.Ser2091Cys)
NM_001081.4(CUBN):c.6272-20C>G
NM_001081.4(CUBN):c.6272-7T>A rs1333033381
NM_001081.4(CUBN):c.6272-8G>C
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
NM_001081.4(CUBN):c.6331A>G (p.Thr2111Ala)
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
NM_001081.4(CUBN):c.6363C>T (p.His2121=)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.6367C>G (p.Leu2123Val)
NM_001081.4(CUBN):c.6439T>C (p.Cys2147Arg)
NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)
NM_001081.4(CUBN):c.645C>T (p.Asp215=)
NM_001081.4(CUBN):c.6462+7C>T
NM_001081.4(CUBN):c.6463-4C>G rs2131581949
NM_001081.4(CUBN):c.6464T>C (p.Leu2155Pro) rs2131581941
NM_001081.4(CUBN):c.6475C>T (p.Pro2159Ser)
NM_001081.4(CUBN):c.6482T>A (p.Ile2161Asn)
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
NM_001081.4(CUBN):c.6493C>T (p.Pro2165Ser)
NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
NM_001081.4(CUBN):c.6538G>A (p.Ala2180Thr) rs769495257
NM_001081.4(CUBN):c.6547A>G (p.Thr2183Ala)
NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=) rs2131479100
NM_001081.4(CUBN):c.6640A>G (p.Ser2214Gly)
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
NM_001081.4(CUBN):c.6646+18G>T
NM_001081.4(CUBN):c.6647-19T>C
NM_001081.4(CUBN):c.6647-5C>G
NM_001081.4(CUBN):c.6647C>A (p.Ala2216Asp)
NM_001081.4(CUBN):c.6676G>A (p.Ala2226Thr)
NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
NM_001081.4(CUBN):c.66T>C (p.Asn22=)
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
NM_001081.4(CUBN):c.670C>T (p.Arg224Cys)
NM_001081.4(CUBN):c.6712C>A (p.Pro2238Thr)
NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.4(CUBN):c.6749T>G (p.Ile2250Ser)
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
NM_001081.4(CUBN):c.6772C>T (p.Arg2258Cys)
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
NM_001081.4(CUBN):c.6796C>G (p.Arg2266Gly)
NM_001081.4(CUBN):c.6797G>A (p.Arg2266Gln) rs1437222146
NM_001081.4(CUBN):c.6822-1G>A
NM_001081.4(CUBN):c.6826A>G (p.Thr2276Ala)
NM_001081.4(CUBN):c.6830C>A (p.Ser2277Tyr)
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6839T>A (p.Leu2280His)
NM_001081.4(CUBN):c.6848G>A (p.Arg2283Gln)
NM_001081.4(CUBN):c.6854G>C (p.Gly2285Ala)
NM_001081.4(CUBN):c.6856G>A (p.Val2286Met)
NM_001081.4(CUBN):c.685A>G (p.Ile229Val)
NM_001081.4(CUBN):c.6863C>T (p.Ser2288Leu)
NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
NM_001081.4(CUBN):c.6867_6868delinsGA (p.Asp2289_Ala2290delinsGluThr)
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
NM_001081.4(CUBN):c.6910A>C (p.Ser2304Arg)
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)
NM_001081.4(CUBN):c.6926_6928delinsAA (p.Gly2309fs)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)
NM_001081.4(CUBN):c.6950G>A (p.Arg2317Gln)
NM_001081.4(CUBN):c.6961A>G (p.Ser2321Gly)
NM_001081.4(CUBN):c.6992A>G (p.Tyr2331Cys)
NM_001081.4(CUBN):c.69C>T (p.Gly23=)
NM_001081.4(CUBN):c.7000+7A>T
NM_001081.4(CUBN):c.7001-19T>C
NM_001081.4(CUBN):c.7001-1del
NM_001081.4(CUBN):c.7001-2A>T rs2131458620
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
NM_001081.4(CUBN):c.7007G>A (p.Cys2336Tyr) rs1413359792
NM_001081.4(CUBN):c.7013del (p.Gly2338fs) rs1588646655
NM_001081.4(CUBN):c.702G>T (p.Met234Ile)
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del) rs1279549461
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
NM_001081.4(CUBN):c.704G>A (p.Arg235Gln)
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter) rs2131458386
NM_001081.4(CUBN):c.7060A>G (p.Thr2354Ala)
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)
NM_001081.4(CUBN):c.7096C>A (p.His2366Asn) rs1261134940
NM_001081.4(CUBN):c.7105G>A (p.Gly2369Arg)
NM_001081.4(CUBN):c.7119C>A (p.His2373Gln)
NM_001081.4(CUBN):c.7126A>G (p.Thr2376Ala) rs2131458000
NM_001081.4(CUBN):c.7143del (p.Phe2382fs)
NM_001081.4(CUBN):c.7145_7146del (p.Asp2381_Phe2382insTer)
NM_001081.4(CUBN):c.7145_7174del (p.Phe2382_Lys2392delinsTer)
NM_001081.4(CUBN):c.7169G>A (p.Cys2390Tyr)
NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
NM_001081.4(CUBN):c.7196A>T (p.Asp2399Val)
NM_001081.4(CUBN):c.720+20G>A
NM_001081.4(CUBN):c.720+8C>T
NM_001081.4(CUBN):c.722C>T (p.Pro241Leu)
NM_001081.4(CUBN):c.7251C>G (p.Asp2417Glu)
NM_001081.4(CUBN):c.725A>G (p.Lys242Arg)
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.4(CUBN):c.731G>A (p.Ser244Asn)
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg) rs41301097
NM_001081.4(CUBN):c.7352-6C>T
NM_001081.4(CUBN):c.7364A>C (p.Asp2455Ala)
NM_001081.4(CUBN):c.7379T>C (p.Ile2460Thr)
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.73G>A (p.Ala25Thr)
NM_001081.4(CUBN):c.7401del (p.Tyr2468fs)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7426C>G (p.Arg2476Gly)
NM_001081.4(CUBN):c.7429A>G (p.Ile2477Val)
NM_001081.4(CUBN):c.7435G>A (p.Glu2479Lys)
NM_001081.4(CUBN):c.7435G>C (p.Glu2479Gln)
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.7504_7509dup (p.Pro2503_Ser2504insHisPro)
NM_001081.4(CUBN):c.7508C>A (p.Pro2503Gln)
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=) rs201001705
NM_001081.4(CUBN):c.750G>A (p.Gly250=)
NM_001081.4(CUBN):c.7522G>A (p.Glu2508Lys)
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
NM_001081.4(CUBN):c.7533+16C>T
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=) rs1588639145
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu) rs2131438965
NM_001081.4(CUBN):c.7582A>G (p.Ser2528Gly) rs1047710609
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
NM_001081.4(CUBN):c.7602T>A (p.Asn2534Lys)
NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)
NM_001081.4(CUBN):c.7637T>G (p.Ile2546Ser)
NM_001081.4(CUBN):c.7667G>A (p.Gly2556Asp)
NM_001081.4(CUBN):c.7705+9G>A
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
NM_001081.4(CUBN):c.7794C>A (p.Asn2598Lys)
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.781A>G (p.Thr261Ala)
NM_001081.4(CUBN):c.783G>A (p.Thr261=) rs770878354
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
NM_001081.4(CUBN):c.7885C>A (p.Gln2629Lys)
NM_001081.4(CUBN):c.7912+14A>G
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
NM_001081.4(CUBN):c.793_794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
NM_001081.4(CUBN):c.794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.797A>G (p.Glu266Gly) rs2131312260
NM_001081.4(CUBN):c.7997_8003delinsAACCTTTGTTATACCTTTGTCACCAACGAACGTGTCAT (p.Trp2666_His2668delinsTer)
NM_001081.4(CUBN):c.8003A>G (p.His2668Arg)
NM_001081.4(CUBN):c.8016C>A (p.Asn2672Lys)
NM_001081.4(CUBN):c.8018A>C (p.Glu2673Ala)
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
NM_001081.4(CUBN):c.8049G>T (p.Lys2683Asn)
NM_001081.4(CUBN):c.8049del (p.Lys2683fs)
NM_001081.4(CUBN):c.8061A>G (p.Thr2687=)
NM_001081.4(CUBN):c.8062+15T>C
NM_001081.4(CUBN):c.8062+3A>G
NM_001081.4(CUBN):c.8062+8T>C
NM_001081.4(CUBN):c.8063-1G>A
NM_001081.4(CUBN):c.8063-6T>G
NM_001081.4(CUBN):c.8081T>C (p.Ile2694Thr)
NM_001081.4(CUBN):c.8114_8115delinsTATGACACAAGCC (p.Tyr2705delinsLeuTer)
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8129A>G (p.Asp2710Gly)
NM_001081.4(CUBN):c.8134C>G (p.Leu2712Val)
NM_001081.4(CUBN):c.8161G>A (p.Ala2721Thr)
NM_001081.4(CUBN):c.8161G>T (p.Ala2721Ser)
NM_001081.4(CUBN):c.8165del (p.Pro2722fs)
NM_001081.4(CUBN):c.8177C>T (p.Thr2726Ile)
NM_001081.4(CUBN):c.8185-10T>C
NM_001081.4(CUBN):c.8207T>C (p.Ile2736Thr)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8222C>T (p.Thr2741Ile)
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser) rs983265041
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.8278A>G (p.Ile2760Val) rs749282139
NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
NM_001081.4(CUBN):c.8341G>A (p.Val2781Met)
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)
NM_001081.4(CUBN):c.836A>G (p.Gln279Arg)
NM_001081.4(CUBN):c.8389A>G (p.Thr2797Ala)
NM_001081.4(CUBN):c.8390C>T (p.Thr2797Met)
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter) rs1841332247
NM_001081.4(CUBN):c.8410+16G>T
NM_001081.4(CUBN):c.8411-3C>T
NM_001081.4(CUBN):c.8417G>A (p.Gly2806Asp) rs2131417467
NM_001081.4(CUBN):c.8437A>G (p.Asn2813Asp)
NM_001081.4(CUBN):c.8440G>C (p.Gly2814Arg)
NM_001081.4(CUBN):c.8441G>A (p.Gly2814Asp)
NM_001081.4(CUBN):c.8446A>G (p.Ile2816Val)
NM_001081.4(CUBN):c.845A>G (p.Asn282Ser)
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
NM_001081.4(CUBN):c.8533A>T (p.Ile2845Phe)
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
NM_001081.4(CUBN):c.8578T>C (p.Cys2860Arg)
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
NM_001081.4(CUBN):c.8598+18T>C rs1841276791
NM_001081.4(CUBN):c.8598+1G>T
NM_001081.4(CUBN):c.8599-18T>C
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_001081.4(CUBN):c.8600T>A (p.Val2867Glu) rs2131400339
NM_001081.4(CUBN):c.8618A>C (p.Glu2873Ala)
NM_001081.4(CUBN):c.8622G>A (p.Val2874=)
NM_001081.4(CUBN):c.8635C>G (p.Leu2879Val) rs1801238
NM_001081.4(CUBN):c.8639C>T (p.Ala2880Val)
NM_001081.4(CUBN):c.8641A>G (p.Thr2881Ala)
NM_001081.4(CUBN):c.8648G>A (p.Cys2883Tyr)
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
NM_001081.4(CUBN):c.8666G>A (p.Gly2889Asp)
NM_001081.4(CUBN):c.8684_8687del (p.Ser2895fs) rs2131400036
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
NM_001081.4(CUBN):c.8691_8693delinsTTA (p.Phe2898Tyr)
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)
NM_001081.4(CUBN):c.8709G>T (p.Gln2903His)
NM_001081.4(CUBN):c.8711C>G (p.Ser2904Cys)
NM_001081.4(CUBN):c.8711C>T (p.Ser2904Phe) rs1588623068
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
NM_001081.4(CUBN):c.8719G>A (p.Ala2907Thr)
NM_001081.4(CUBN):c.8726C>T (p.Ala2909Val)
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
NM_001081.4(CUBN):c.8755+2T>C
NM_001081.4(CUBN):c.8756-18C>A
NM_001081.4(CUBN):c.8756-2A>G
NM_001081.4(CUBN):c.8785_8802dup (p.Pro2934_Asn2935insGlyTyrIleIleSerPro)
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
NM_001081.4(CUBN):c.8794A>T (p.Ile2932Phe) rs2131396329
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
NM_001081.4(CUBN):c.8800C>T (p.Pro2934Ser)
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
NM_001081.4(CUBN):c.883+5A>G
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.884-1G>A
NM_001081.4(CUBN):c.884-8T>C
NM_001081.4(CUBN):c.8851G>A (p.Glu2951Lys)
NM_001081.4(CUBN):c.8858A>G (p.Asn2953Ser)
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.4(CUBN):c.8906-13dup
NM_001081.4(CUBN):c.8906-9C>T
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
NM_001081.4(CUBN):c.8914G>A (p.Ala2972Thr)
NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
NM_001081.4(CUBN):c.8953A>T (p.Ile2985Phe)
NM_001081.4(CUBN):c.8954T>C (p.Ile2985Thr)
NM_001081.4(CUBN):c.8958A>C (p.Arg2986Ser)
NM_001081.4(CUBN):c.8967C>A (p.Ser2989Arg) rs560485793
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)
NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr) rs756775921
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser) rs756775921
NM_001081.4(CUBN):c.9029C>G (p.Ala3010Gly)
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
NM_001081.4(CUBN):c.9078C>A (p.Phe3026Leu) rs140524729
NM_001081.4(CUBN):c.909C>T (p.Cys303=)
NM_001081.4(CUBN):c.9103A>G (p.Ile3035Val)
NM_001081.4(CUBN):c.9110GTG[2] (p.Gly3039del)
NM_001081.4(CUBN):c.9113G>A (p.Gly3038Asp)
NM_001081.4(CUBN):c.9154G>A (p.Ala3052Thr)
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
NM_001081.4(CUBN):c.9166G>T (p.Ala3056Ser) rs569915247
NM_001081.4(CUBN):c.9181G>T (p.Asp3061Tyr)
NM_001081.4(CUBN):c.9185T>C (p.Met3062Thr)
NM_001081.4(CUBN):c.9197A>G (p.Tyr3066Cys)
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
NM_001081.4(CUBN):c.9236+5G>C
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9237-6T>A
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9247T>C (p.Phe3083Leu)
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
NM_001081.4(CUBN):c.9266C>A (p.Thr3089Asn)
NM_001081.4(CUBN):c.9266C>T (p.Thr3089Ile)
NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)
NM_001081.4(CUBN):c.929A>C (p.Glu310Ala)
NM_001081.4(CUBN):c.9310A>G (p.Thr3104Ala)
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=) rs2131367704
NM_001081.4(CUBN):c.9425G>A (p.Gly3142Asp)
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)
NM_001081.4(CUBN):c.9443G>A (p.Arg3148Gln)
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)
NM_001081.4(CUBN):c.9454+19T>G
NM_001081.4(CUBN):c.9454+1G>A
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
NM_001081.4(CUBN):c.9461A>G (p.Gln3154Arg)
NM_001081.4(CUBN):c.9491C>T (p.Ser3164Leu)
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
NM_001081.4(CUBN):c.9518C>G (p.Ser3173Cys)
NM_001081.4(CUBN):c.9535T>A (p.Tyr3179Asn)
NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)
NM_001081.4(CUBN):c.9553del (p.Cys3185fs)
NM_001081.4(CUBN):c.9556_9557del (p.Val3186fs)
NM_001081.4(CUBN):c.9561G>T (p.Trp3187Cys)
NM_001081.4(CUBN):c.9586G>A (p.Val3196Ile)
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
NM_001081.4(CUBN):c.9605A>C (p.Asn3202Thr)
NM_001081.4(CUBN):c.9612del (p.Phe3204fs)
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)
NM_001081.4(CUBN):c.962C>T (p.Pro321Leu)
NM_001081.4(CUBN):c.964G>A (p.Val322Ile)
NM_001081.4(CUBN):c.9653A>T (p.Asp3218Val)
NM_001081.4(CUBN):c.9663+13T>C
NM_001081.4(CUBN):c.9663+7C>T
NM_001081.4(CUBN):c.9664-16T>G rs2131320788
NM_001081.4(CUBN):c.9664-20T>C
NM_001081.4(CUBN):c.9664-2A>C
NM_001081.4(CUBN):c.9664-8del
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
NM_001081.4(CUBN):c.9673G>A (p.Gly3225Arg)
NM_001081.4(CUBN):c.9689C>T (p.Ala3230Val)
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
NM_001081.4(CUBN):c.9721G>A (p.Val3241Ile)
NM_001081.4(CUBN):c.9724C>T (p.Pro3242Ser)
NM_001081.4(CUBN):c.9727G>A (p.Ala3243Thr)
NM_001081.4(CUBN):c.9742T>A (p.Ser3248Thr)
NM_001081.4(CUBN):c.9751T>G (p.Phe3251Val)
NM_001081.4(CUBN):c.976A>C (p.Asn326His)
NM_001081.4(CUBN):c.9783del (p.Thr3261_Leu3262insTer)
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
NM_001081.4(CUBN):c.9806C>T (p.Ala3269Val)
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
NM_001081.4(CUBN):c.9826+13A>G
NM_001081.4(CUBN):c.9826+3G>A
NM_001081.4(CUBN):c.9827-20G>A
NM_001081.4(CUBN):c.9828G>A (p.Met3276Ile)
NM_001081.4(CUBN):c.9830C>T (p.Pro3277Leu)
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
NM_001081.4(CUBN):c.9896C>A (p.Pro3299Gln)
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
NM_001081.4(CUBN):c.9907T>C (p.Phe3303Leu)
NM_001081.4(CUBN):c.9941C>T (p.Pro3314Leu)
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=) rs375963302
NM_001081.4(CUBN):c.9942G>T (p.Pro3314=)
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001081.4(CUBN):c.9950A>G (p.Gln3317Arg)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001081.4(CUBN):c.9998C>T (p.Thr3333Met)
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
NM_001330540.2(MMACHC):c.-90del
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
NM_002454.3(MTRR):c.1041A>C (p.Ala347=) rs1331838959
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) rs2126745614
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) rs2126745648
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1057+12G>A
NM_002454.3(MTRR):c.1057+17T>C
NM_002454.3(MTRR):c.1057+8C>G rs1325906968
NM_002454.3(MTRR):c.1057+8C>T
NM_002454.3(MTRR):c.1057+9_1057+16del
NM_002454.3(MTRR):c.1058-5A>C rs2126751043
NM_002454.3(MTRR):c.1058-8del rs1736476987
NM_002454.3(MTRR):c.1058-9C>T rs1736476286
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.1066T>C (p.Leu356=) rs2126751152
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1074G>A (p.Gln358=) rs1561229685
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1077T>C (p.His359=)
NM_002454.3(MTRR):c.1083T>C (p.Pro361=) rs1405600544
NM_002454.3(MTRR):c.1089A>G (p.Gly363=) rs1561230017
NM_002454.3(MTRR):c.108C>T (p.His36=)
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.109dup (p.Cys37fs) rs1747853230
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1125A>G (p.Glu375=) rs1425446891
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1146+10dup rs750264866
NM_002454.3(MTRR):c.1146+13G>T
NM_002454.3(MTRR):c.1146+19T>G
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1147-11C>G rs1015760904
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1147-14G>T
NM_002454.3(MTRR):c.1147-15G>T
NM_002454.3(MTRR):c.1147-17C>T
NM_002454.3(MTRR):c.1147-1G>A
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
NM_002454.3(MTRR):c.1164del (p.Val389fs)
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) rs1579758005
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
NM_002454.3(MTRR):c.1203A>G (p.Leu401=) rs200661044
NM_002454.3(MTRR):c.1209G>A (p.Glu403=) rs1324764527
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1212G>T (p.Leu404=) rs2126771253
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
NM_002454.3(MTRR):c.1221A>G (p.Lys407=) rs2126771342
NM_002454.3(MTRR):c.1230A>C (p.Ala410=) rs2126771427
NM_002454.3(MTRR):c.1233C>G (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1233C>T (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1248T>C (p.Phe416=) rs886060807
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1260C>G (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1260C>T (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
NM_002454.3(MTRR):c.129+10G>C rs6413427
NM_002454.3(MTRR):c.129+11T>C
NM_002454.3(MTRR):c.129+12T>C
NM_002454.3(MTRR):c.129+13A>T
NM_002454.3(MTRR):c.129+14C>G
NM_002454.3(MTRR):c.129+15A>G
NM_002454.3(MTRR):c.129+20A>C
NM_002454.3(MTRR):c.129+7G>A
NM_002454.3(MTRR):c.129+9C>T rs527869420
NM_002454.3(MTRR):c.1290T>C (p.Ala430=) rs2126772061
NM_002454.3(MTRR):c.1293C>T (p.Phe431=) rs766885971
NM_002454.3(MTRR):c.130-14T>C
NM_002454.3(MTRR):c.130-17A>T
NM_002454.3(MTRR):c.130-18G>A
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.130-20T>G
NM_002454.3(MTRR):c.130-4G>A rs201823283
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) rs2126772123
NM_002454.3(MTRR):c.1327+10C>G rs757398819
NM_002454.3(MTRR):c.1327+10C>T rs757398819
NM_002454.3(MTRR):c.1327+11G>A
NM_002454.3(MTRR):c.1327+19A>G
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1327+20A>G
NM_002454.3(MTRR):c.1327+8G>A
NM_002454.3(MTRR):c.1328-12A>G
NM_002454.3(MTRR):c.1328-13T>A
NM_002454.3(MTRR):c.1328-13T>C
NM_002454.3(MTRR):c.1328-4C>G rs747003266
NM_002454.3(MTRR):c.1328-4C>T rs747003266
NM_002454.3(MTRR):c.1328-6T>G
NM_002454.3(MTRR):c.1328-7_1328-5del rs779772153
NM_002454.3(MTRR):c.1328-8T>C
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) rs1440404360
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1368A>G (p.Ala456=) rs2126785758
NM_002454.3(MTRR):c.1370+12T>C
NM_002454.3(MTRR):c.1370+12del rs1444115346
NM_002454.3(MTRR):c.1370+20T>A
NM_002454.3(MTRR):c.1370+2TAC[3]
NM_002454.3(MTRR):c.1370+9A>G rs2126785823
NM_002454.3(MTRR):c.1370+9del
NM_002454.3(MTRR):c.1371-11dup
NM_002454.3(MTRR):c.1371-17T>C
NM_002454.3(MTRR):c.1371-18G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1371-4G>T rs2126793044
NM_002454.3(MTRR):c.1371-8C>G rs2126793017
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1386C>T (p.His462=)
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
NM_002454.3(MTRR):c.1395G>A (p.Lys465=) rs2126793201
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1425T>C (p.Phe475=) rs1737829430
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1431T>G (p.Ser477=) rs896702427
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1452G>A (p.Leu484=) rs2126793535
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1476del (p.Trp492fs) rs2126793645
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
NM_002454.3(MTRR):c.1482C>T (p.Ala494=) rs1579792709
NM_002454.3(MTRR):c.1488G>A (p.Leu496=) rs1158860588
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) rs1737852706
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1554T>C (p.Pro518=) rs2126794116
NM_002454.3(MTRR):c.1557+10T>C rs1414777712
NM_002454.3(MTRR):c.1557+16C>T
NM_002454.3(MTRR):c.1558-12G>A
NM_002454.3(MTRR):c.1558-13T>C
NM_002454.3(MTRR):c.1558-14A>G
NM_002454.3(MTRR):c.1558-15del
NM_002454.3(MTRR):c.1558-17T>C
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1558-8T>C rs2126807577
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1566C>A (p.Ile522=) rs1579815027
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1590C>T (p.Phe530=) rs2126807805
NM_002454.3(MTRR):c.1594T>C (p.Leu532=) rs2126807843
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1599A>G (p.Pro533=) rs2126807880
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
NM_002454.3(MTRR):c.15G>A (p.Leu5=) rs2126643854
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
NM_002454.3(MTRR):c.1612dup (p.Ile538fs) rs757800887
NM_002454.3(MTRR):c.1614C>T (p.Ile538=) rs2126807956
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.162T>C (p.Val54=) rs2126662749
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
NM_002454.3(MTRR):c.1650C>T (p.Ala550=) rs2126808168
NM_002454.3(MTRR):c.1652dup (p.Phe552fs) rs2126808162
NM_002454.3(MTRR):c.165T>C (p.Val55=)
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1674T>C (p.His558=)
NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1676+7T>G
NM_002454.3(MTRR):c.1676+8C>T
NM_002454.3(MTRR):c.1677-11T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1677-20C>T
NM_002454.3(MTRR):c.1677-4T>C
NM_002454.3(MTRR):c.1677-7dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1680G>A (p.Glu560=) rs2126812708
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1686C>T (p.Leu562=) rs909879819
NM_002454.3(MTRR):c.1698C>T (p.His566=) rs2126812807
NM_002454.3(MTRR):c.16T>C (p.Leu6=) rs2126643873
NM_002454.3(MTRR):c.1704T>C (p.Asp568=) rs2126812841
NM_002454.3(MTRR):c.1716A>C (p.Gly572=) rs755255468
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.171T>A (p.Val57=) rs2126662820
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
NM_002454.3(MTRR):c.1728del (p.Leu576fs) rs2126812977
NM_002454.3(MTRR):c.1741A>C (p.Arg581=) rs1738621244
NM_002454.3(MTRR):c.1749G>A (p.Lys583=) rs1261248965
NM_002454.3(MTRR):c.1764A>C (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1764A>T (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+10A>T rs1738630744
NM_002454.3(MTRR):c.1769+11A>G
NM_002454.3(MTRR):c.1769+15C>G
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1769+9C>G
NM_002454.3(MTRR):c.1770-12A>G
NM_002454.3(MTRR):c.1770-14A>G
NM_002454.3(MTRR):c.1770-7A>G rs2126813814
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
NM_002454.3(MTRR):c.1794G>A (p.Lys598=) rs2126814001
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1803C>T (p.Ile601=) rs1448214074
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
NM_002454.3(MTRR):c.1809T>C (p.Thr603=) rs1390898831
NM_002454.3(MTRR):c.1815A>G (p.Leu605=) rs2126814152
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1839T>A (p.Ala613=) rs2126814313
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1854G>A (p.Glu618=) rs955857433
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
NM_002454.3(MTRR):c.186C>T (p.Thr62=) rs940332374
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>C (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
NM_002454.3(MTRR):c.1887C>A (p.Ile629=) rs2126814585
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
NM_002454.3(MTRR):c.1893T>C (p.Leu631=) rs114274194
NM_002454.3(MTRR):c.1902G>A (p.Gln634=) rs945164864
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1912A>C (p.Arg638=) rs2126814708
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
NM_002454.3(MTRR):c.1923C>G (p.Leu641=) rs1738686385
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1929G>A (p.Glu643=) rs1738688155
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.1938T>C (p.His646=) rs747850307
NM_002454.3(MTRR):c.1952+10T>A
NM_002454.3(MTRR):c.1952+10T>C
NM_002454.3(MTRR):c.1952+10_1952+12del rs2126815094
NM_002454.3(MTRR):c.1952+11A>T
NM_002454.3(MTRR):c.1952+12_1952+16dup
NM_002454.3(MTRR):c.1952+13C>T
NM_002454.3(MTRR):c.1952+17C>A
NM_002454.3(MTRR):c.1952+20A>G
NM_002454.3(MTRR):c.1952+7C>T
NM_002454.3(MTRR):c.1953-14A>G
NM_002454.3(MTRR):c.1953-14_1953-12del
NM_002454.3(MTRR):c.1953-15T>C
NM_002454.3(MTRR):c.1953-16T>C
NM_002454.3(MTRR):c.1953-18T>C
NM_002454.3(MTRR):c.1953-19T>C
NM_002454.3(MTRR):c.1953-20C>T
NM_002454.3(MTRR):c.1953-4C>G
NM_002454.3(MTRR):c.1953-4C>T
NM_002454.3(MTRR):c.1953-9C>A
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1956T>C (p.Asp652=) rs765283033
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.195A>G (p.Pro65=) rs1166869664
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1983T>C (p.His661=)
NM_002454.3(MTRR):c.1986T>C (p.Asp662=) rs2126829225
NM_002454.3(MTRR):c.1989C>T (p.Ala663=) rs2126829261
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.2001A>T (p.Ile667=) rs1186554585
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
NM_002454.3(MTRR):c.2088T>C (p.Ile696=) rs2126829944
NM_002454.3(MTRR):c.2094A>G (p.Ser698=) rs1249803440
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.226del (p.Ile76fs)
NM_002454.3(MTRR):c.227del (p.Ile76fs)
NM_002454.3(MTRR):c.228dup (p.Gln77fs) rs2126663415
NM_002454.3(MTRR):c.234C>T (p.Asn78=) rs757746363
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_002454.3(MTRR):c.246G>A (p.Pro82=) rs149300444
NM_002454.3(MTRR):c.24T>C (p.Tyr8=) rs1747831647
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.261T>C (p.Ala87=) rs138167806
NM_002454.3(MTRR):c.263del (p.His88fs)
NM_002454.3(MTRR):c.264C>T (p.His88=) rs770540418
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.277T>C (p.Leu93=) rs1318273666
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
NM_002454.3(MTRR):c.283+13C>T
NM_002454.3(MTRR):c.283+15C>G
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.283+9C>T rs2126663981
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.284-17G>A
NM_002454.3(MTRR):c.284-17del
NM_002454.3(MTRR):c.284-18T>C
NM_002454.3(MTRR):c.284-5T>G
NM_002454.3(MTRR):c.284-6C>T
NM_002454.3(MTRR):c.288C>G (p.Leu96=) rs35587995
NM_002454.3(MTRR):c.290del (p.Gly97fs)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
NM_002454.3(MTRR):c.312T>C (p.Phe104=) rs1044244393
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.333T>C (p.Ile111=) rs2126675587
NM_002454.3(MTRR):c.339del (p.Lys113fs)
NM_002454.3(MTRR):c.340del (p.Arg114fs) rs2126675629
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.354T>G (p.Leu118=) rs1465852233
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
NM_002454.3(MTRR):c.375C>T (p.Asp125=) rs757292247
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)
NM_002454.3(MTRR):c.381A>G (p.Gly127=) rs771642983
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
NM_002454.3(MTRR):c.401+12_401+13del
NM_002454.3(MTRR):c.401+14T>A
NM_002454.3(MTRR):c.401+17C>G
NM_002454.3(MTRR):c.401+17C>T
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-18T>C
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.402-6G>T rs2126692815
NM_002454.3(MTRR):c.402-6del
NM_002454.3(MTRR):c.414G>A (p.Val138=)
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
NM_002454.3(MTRR):c.423G>C (p.Pro141=) rs753947379
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.456G>A (p.Lys152=) rs1734864252
NM_002454.3(MTRR):c.462T>C (p.Phe154=) rs2126693127
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
NM_002454.3(MTRR):c.477A>C (p.Gly159=) rs1270504511
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.507G>T (p.Val169=) rs367609729
NM_002454.3(MTRR):c.516T>C (p.Pro172=) rs1579656831
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
NM_002454.3(MTRR):c.534C>T (p.Asp178=) rs1417585228
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.558C>T (p.His186=)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.573C>G (p.Val191=) rs777364593
NM_002454.3(MTRR):c.573C>T (p.Val191=) rs777364593
NM_002454.3(MTRR):c.579T>C (p.Leu193=) rs2126694174
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
NM_002454.3(MTRR):c.593del (p.Asp198fs)
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)
NM_002454.3(MTRR):c.606G>A (p.Lys202=) rs368030155
NM_002454.3(MTRR):c.612T>G (p.Ser204=) rs374670570
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
NM_002454.3(MTRR):c.630T>C (p.Asn210=) rs2126694596
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.636G>A (p.Val212=) rs368140804
NM_002454.3(MTRR):c.636G>C (p.Val212=)
NM_002454.3(MTRR):c.645C>T (p.Asn215=) rs1734907656
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>C (p.Asn218=) rs770060665
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
NM_002454.3(MTRR):c.681A>G (p.Ser227=) rs749515067
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
NM_002454.3(MTRR):c.693G>C (p.Ser231=) rs775348918
NM_002454.3(MTRR):c.6G>A (p.Arg2=) rs560321328
NM_002454.3(MTRR):c.702A>C (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.702A>G (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.718_719del (p.Leu240fs) rs1207820860
NM_002454.3(MTRR):c.734del (p.Leu245fs) rs1734927527
NM_002454.3(MTRR):c.735A>G (p.Leu245=) rs1343821146
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
NM_002454.3(MTRR):c.754del (p.Val252fs)
NM_002454.3(MTRR):c.75A>G (p.Gln25=) rs1553999358
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
NM_002454.3(MTRR):c.780+17T>C
NM_002454.3(MTRR):c.780+17T>G
NM_002454.3(MTRR):c.780+19A>G
NM_002454.3(MTRR):c.780+19del
NM_002454.3(MTRR):c.780+8A>G rs1283751633
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.781-4C>T rs1057521905
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.781-6T>C
NM_002454.3(MTRR):c.781-8T>C
NM_002454.3(MTRR):c.789C>T (p.Ser263=) rs577950573
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.815del (p.Pro272fs) rs2126727585
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
NM_002454.3(MTRR):c.81G>A (p.Val27=) rs1361273528
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.849A>G (p.Gln283=) rs1464577162
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.858G>A (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>C (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.867C>G (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.867C>T (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.873A>G (p.Lys291=) rs2126727889
NM_002454.3(MTRR):c.87T>C (p.His29=) rs1212726848
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
NM_002454.3(MTRR):c.892T>C (p.Leu298=) rs758638445
NM_002454.3(MTRR):c.901del (p.Ser301fs)
NM_002454.3(MTRR):c.903+11A>G
NM_002454.3(MTRR):c.903+15T>G
NM_002454.3(MTRR):c.903+17_903+20del
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.903+7T>C
NM_002454.3(MTRR):c.903+9C>T
NM_002454.3(MTRR):c.904-10T>C
NM_002454.3(MTRR):c.904-12G>T
NM_002454.3(MTRR):c.904-16T>C
NM_002454.3(MTRR):c.904-18A>G
NM_002454.3(MTRR):c.904-19C>T
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20_904-19insTTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.904-3dup rs764339809
NM_002454.3(MTRR):c.904-4C>A
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
NM_002454.3(MTRR):c.909A>G (p.Thr303=) rs747851597
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
NM_002454.3(MTRR):c.930A>C (p.Gly310=) rs2126744786
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
NM_002454.3(MTRR):c.936C>G (p.Ala312=) rs777075473
NM_002454.3(MTRR):c.939C>T (p.Phe313=) rs1475861942
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.957C>T (p.Asn319=) rs2126745060
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
NM_002454.3(MTRR):c.972A>C (p.Val324=)
NM_002454.3(MTRR):c.973_1146+462del
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.979C>T (p.Leu327=) rs2126745164
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
NM_002454.3(MTRR):c.984C>G (p.Leu328=) rs752543039
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
NM_005050.4(ABCD4):c.1028+19C>G
NM_005050.4(ABCD4):c.1028+20C>A rs2139899171
NM_005050.4(ABCD4):c.1028+8C>T
NM_005050.4(ABCD4):c.1028+9G>T
NM_005050.4(ABCD4):c.1029-14C>G
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met) rs35073715
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1118+1G>T
NM_005050.4(ABCD4):c.1119-20C>T
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
NM_005050.4(ABCD4):c.1125del (p.Trp377fs) rs1440898011
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
NM_005050.4(ABCD4):c.1237G>T (p.Glu413Ter)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val) rs2081160348
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile) rs945270666
NM_005050.4(ABCD4):c.1294del (p.Arg432fs) rs1435760575
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser) rs2081143591
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005050.4(ABCD4):c.1327+9C>A
NM_005050.4(ABCD4):c.1328-10G>A
NM_005050.4(ABCD4):c.1328-18T>C
NM_005050.4(ABCD4):c.1328-19G>A rs376137295
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
NM_005050.4(ABCD4):c.1343_1349delinsCCCATGGG (p.Leu448fs)
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
NM_005050.4(ABCD4):c.1419+15G>A
NM_005050.4(ABCD4):c.1420-11dup
NM_005050.4(ABCD4):c.1420-3del
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His) rs1045211254
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
NM_005050.4(ABCD4):c.1456+9G>T
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys) rs2080853826
NM_005050.4(ABCD4):c.1457-18G>A
NM_005050.4(ABCD4):c.1457-1G>C
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
NM_005050.4(ABCD4):c.1507-11G>C rs375805220
NM_005050.4(ABCD4):c.1507-3_1507-2dup rs746298456
NM_005050.4(ABCD4):c.1507-4A>G
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
NM_005050.4(ABCD4):c.1559+13C>T
NM_005050.4(ABCD4):c.1559+16G>A
NM_005050.4(ABCD4):c.1559+7_1559+11del rs1381694360
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) rs2140107509
NM_005050.4(ABCD4):c.158-14C>T
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr) rs754370477
NM_005050.4(ABCD4):c.1637-15G>T rs2079892790
NM_005050.4(ABCD4):c.1637-6C>G
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly) rs2139698542
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His) rs1204078851
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe) rs2139689489
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
NM_005050.4(ABCD4):c.1A>G (p.Met1Val) rs2140174798
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu) rs2140093719
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
NM_005050.4(ABCD4):c.244_245del (p.Leu82fs)
NM_005050.4(ABCD4):c.285+1G>T
NM_005050.4(ABCD4):c.286-10C>G
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
NM_005050.4(ABCD4):c.38+16G>A
NM_005050.4(ABCD4):c.38+18G>A
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
NM_005050.4(ABCD4):c.39-19C>T
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala) rs972140495
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
NM_005050.4(ABCD4):c.426-11A>G rs2140018313
NM_005050.4(ABCD4):c.426-1G>A
NM_005050.4(ABCD4):c.426-4C>G rs765378243
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu) rs150967109
NM_005050.4(ABCD4):c.448G>A (p.Val150Met) rs574925291
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr) rs778245157
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
NM_005050.4(ABCD4):c.528C>A (p.Tyr176Ter)
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
NM_005050.4(ABCD4):c.542+20C>G rs2140013486
NM_005050.4(ABCD4):c.543-11C>G
NM_005050.4(ABCD4):c.543-17CT[3]
NM_005050.4(ABCD4):c.543-17CT[4]
NM_005050.4(ABCD4):c.565_566del (p.Ser189fs)
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.669-1G>A
NM_005050.4(ABCD4):c.669-2A>G
NM_005050.4(ABCD4):c.669-6G>A
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
NM_005050.4(ABCD4):c.708del (p.Ala237fs)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
NM_005050.4(ABCD4):c.767dup (p.Leu257fs)
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp) rs1566959741
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
NM_005050.4(ABCD4):c.814+13G>A
NM_005050.4(ABCD4):c.814+6C>T rs1012967402
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn) rs2081908223
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly) rs2084043062
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
NM_005050.4(ABCD4):c.936+1G>A
NM_005050.4(ABCD4):c.936+20A>C
NM_005050.4(ABCD4):c.936+20A>G
NM_005050.4(ABCD4):c.937-17C>T
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
NM_005142.3(CBLIF):c.1074-10dup rs769669334
NM_005142.3(CBLIF):c.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) rs1590854624
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
NM_005142.3(CBLIF):c.1192+7G>A rs1417075488
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) rs148989677
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.256+18C>T
NM_005142.3(CBLIF):c.256+20C>T
NM_005142.3(CBLIF):c.257-13C>T
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
NM_005142.3(CBLIF):c.27G>A (p.Leu9=)
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.370+10G>T
NM_005142.3(CBLIF):c.370+13T>C
NM_005142.3(CBLIF):c.370+14G>A
NM_005142.3(CBLIF):c.370+1G>C
NM_005142.3(CBLIF):c.370+20G>A
NM_005142.3(CBLIF):c.370+83_426del
NM_005142.3(CBLIF):c.371-19T>C
NM_005142.3(CBLIF):c.371-4G>A
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
NM_005142.3(CBLIF):c.381T>G (p.Ala127=) rs1590860111
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
NM_005142.3(CBLIF):c.418T>C (p.Leu140=) rs141917734
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del) rs770530971
NM_005142.3(CBLIF):c.438C>T (p.Asn146=)
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423
NM_005142.3(CBLIF):c.468C>T (p.Arg156=)
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
NM_005142.3(CBLIF):c.512-17C>A
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) rs1866524413
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005142.3(CBLIF):c.693+10T>G
NM_005142.3(CBLIF):c.693+8C>T
NM_005142.3(CBLIF):c.693+9G>A
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) rs1866468089
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) rs756139879
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
NM_005142.3(CBLIF):c.79+10_79+12del
NM_005142.3(CBLIF):c.79+11T>C
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.871+14C>G
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=) rs2148589412
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1084+18G>A
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+20C>T
NM_005334.3(HCFC1):c.1084+7C>A
NM_005334.3(HCFC1):c.1084+9G>A rs1557116426
NM_005334.3(HCFC1):c.1085-12G>C
NM_005334.3(HCFC1):c.1085-12G>T
NM_005334.3(HCFC1):c.1085-17A>G
NM_005334.3(HCFC1):c.1085-20C>T
NM_005334.3(HCFC1):c.1085-6C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) rs782132752
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) rs2065413556
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1444+10G>A
NM_005334.3(HCFC1):c.1444+14C>T
NM_005334.3(HCFC1):c.1444+18G>A
NM_005334.3(HCFC1):c.1445-11T>C
NM_005334.3(HCFC1):c.1445-17G>T
NM_005334.3(HCFC1):c.1445-20C>G
NM_005334.3(HCFC1):c.1445-7T>C
NM_005334.3(HCFC1):c.1445-8C>G
NM_005334.3(HCFC1):c.1445-8C>T
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1605+11G>A rs2148586621
NM_005334.3(HCFC1):c.1605+11G>T
NM_005334.3(HCFC1):c.1605+18G>A
NM_005334.3(HCFC1):c.1606-11G>T
NM_005334.3(HCFC1):c.1606-14C>T
NM_005334.3(HCFC1):c.1606-15C>T
NM_005334.3(HCFC1):c.1606-16C>T
NM_005334.3(HCFC1):c.1606-17G>A
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=) rs2148584844
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=) rs2148584612
NM_005334.3(HCFC1):c.1803+13del
NM_005334.3(HCFC1):c.1803+15G>A
NM_005334.3(HCFC1):c.1804-14T>C
NM_005334.3(HCFC1):c.1804-7C>T
NM_005334.3(HCFC1):c.1804-9C>G
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
NM_005334.3(HCFC1):c.193+12G>A
NM_005334.3(HCFC1):c.193+15C>T
NM_005334.3(HCFC1):c.193+15dup
NM_005334.3(HCFC1):c.193+16G>T
NM_005334.3(HCFC1):c.193+7G>A
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.194-19G>C
NM_005334.3(HCFC1):c.194-20T>C
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
NM_005334.3(HCFC1):c.2028+17G>A
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.2029-12C>T
NM_005334.3(HCFC1):c.2029-12del
NM_005334.3(HCFC1):c.2029-14C>T
NM_005334.3(HCFC1):c.2029-18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
NM_005334.3(HCFC1):c.2133+10C>T
NM_005334.3(HCFC1):c.2133+11dup
NM_005334.3(HCFC1):c.2133+20A>C
NM_005334.3(HCFC1):c.2134-14C>T
NM_005334.3(HCFC1):c.2134-18C>T
NM_005334.3(HCFC1):c.2134-20C>T
NM_005334.3(HCFC1):c.2134-9C>T
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
NM_005334.3(HCFC1):c.2353+15C>T
NM_005334.3(HCFC1):c.2353+16G>A
NM_005334.3(HCFC1):c.2353+19A>G
NM_005334.3(HCFC1):c.2353+20T>C
NM_005334.3(HCFC1):c.2353+6G>A
NM_005334.3(HCFC1):c.2354-10_2354-9del
NM_005334.3(HCFC1):c.2354-14A>G
NM_005334.3(HCFC1):c.2354-15C>T
NM_005334.3(HCFC1):c.2354-16C>G
NM_005334.3(HCFC1):c.2354-20G>A
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) rs782481466
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
NM_005334.3(HCFC1):c.2496+12C>T
NM_005334.3(HCFC1):c.2496+14A>G
NM_005334.3(HCFC1):c.2496+17C>T
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2496+20C>G
NM_005334.3(HCFC1):c.2496+7C>T
NM_005334.3(HCFC1):c.2497-16T>C
NM_005334.3(HCFC1):c.2497-17_2497-16del
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.2635+10C>T
NM_005334.3(HCFC1):c.2635+12T>A
NM_005334.3(HCFC1):c.2635+15G>A
NM_005334.3(HCFC1):c.2635+9C>T
NM_005334.3(HCFC1):c.2636-10T>A
NM_005334.3(HCFC1):c.2636-14C>T
NM_005334.3(HCFC1):c.2636-15C>A
NM_005334.3(HCFC1):c.2636-18T>A
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) rs949004802
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2856+17G>A
NM_005334.3(HCFC1):c.2856+8A>G
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2857-18C>T
NM_005334.3(HCFC1):c.2857-20C>T rs2148575650
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2857-8C>T
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
NM_005334.3(HCFC1):c.3021C>T (p.Gly1007=)
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) rs944235194
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) rs2065360777
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.342+9G>A
NM_005334.3(HCFC1):c.343-10G>A
NM_005334.3(HCFC1):c.343-7T>G
NM_005334.3(HCFC1):c.343-8T>C
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=) rs782167598
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) rs2065352881
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) rs2148571129
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) rs2148568710
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
NM_005334.3(HCFC1):c.4333+9A>G
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
NM_005334.3(HCFC1):c.4334-11C>G
NM_005334.3(HCFC1):c.4334-13G>A
NM_005334.3(HCFC1):c.4334-15C>T
NM_005334.3(HCFC1):c.4334-16C>T
NM_005334.3(HCFC1):c.4334-18_4334-8dup
NM_005334.3(HCFC1):c.4334-20C>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4497+16G>A
NM_005334.3(HCFC1):c.4497+16G>T
NM_005334.3(HCFC1):c.4497+18C>T
NM_005334.3(HCFC1):c.4497+19G>A
NM_005334.3(HCFC1):c.4497+9C>T
NM_005334.3(HCFC1):c.4498-12G>T
NM_005334.3(HCFC1):c.4498-20C>T
NM_005334.3(HCFC1):c.4498-6C>T
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) rs1277991321
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=) rs2065328379
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) rs2148563099
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) rs1557112897
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4942+17C>A
NM_005334.3(HCFC1):c.4942+17C>T
NM_005334.3(HCFC1):c.4942+20T>C
NM_005334.3(HCFC1):c.4942+20T>G
NM_005334.3(HCFC1):c.4942+7G>A
NM_005334.3(HCFC1):c.4943-11C>A
NM_005334.3(HCFC1):c.4943-14C>T
NM_005334.3(HCFC1):c.4943-16C>T
NM_005334.3(HCFC1):c.4943-18C>A
NM_005334.3(HCFC1):c.4943-18C>T
NM_005334.3(HCFC1):c.4943-20T>C
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
NM_005334.3(HCFC1):c.503+10G>A
NM_005334.3(HCFC1):c.503+8T>G
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
NM_005334.3(HCFC1):c.504-13C>A
NM_005334.3(HCFC1):c.504-16G>C
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) rs2148561074
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5260+17G>A
NM_005334.3(HCFC1):c.5260+7G>A
NM_005334.3(HCFC1):c.5261-12C>T
NM_005334.3(HCFC1):c.5261-12_5261-10del
NM_005334.3(HCFC1):c.5261-15C>T
NM_005334.3(HCFC1):c.5261-4C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5261-8C>G
NM_005334.3(HCFC1):c.5261-9_5261-6del
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=) rs2148560027
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) rs1220039024
NM_005334.3(HCFC1):c.5379+10del
NM_005334.3(HCFC1):c.5379+15T>C
NM_005334.3(HCFC1):c.5379+7C>T
NM_005334.3(HCFC1):c.5380-13T>C
NM_005334.3(HCFC1):c.5380-15G>A
NM_005334.3(HCFC1):c.5380-16C>T
NM_005334.3(HCFC1):c.5380-19C>T
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5380-7C>T
NM_005334.3(HCFC1):c.5380-8T>A
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
NM_005334.3(HCFC1):c.5517+10C>G
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5518-10C>T
NM_005334.3(HCFC1):c.5518-18C>T
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005334.3(HCFC1):c.5703+11C>T
NM_005334.3(HCFC1):c.5703+14T>G
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5703+19T>C
NM_005334.3(HCFC1):c.5704-11C>G
NM_005334.3(HCFC1):c.5704-11C>T
NM_005334.3(HCFC1):c.5704-13C>T
NM_005334.3(HCFC1):c.5704-14C>A
NM_005334.3(HCFC1):c.5704-15C>A
NM_005334.3(HCFC1):c.5704-20_5704-18del
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) rs782090098
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=) rs1000069168
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
NM_005334.3(HCFC1):c.6004+10C>G
NM_005334.3(HCFC1):c.6004+13C>T
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6004+16G>A
NM_005334.3(HCFC1):c.6005-11G>A
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6005-13C>A
NM_005334.3(HCFC1):c.6005-13C>T
NM_005334.3(HCFC1):c.6005-16C>T
NM_005334.3(HCFC1):c.6005-5T>A
NM_005334.3(HCFC1):c.6005-6T>C
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=) rs1715955651
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
NM_005334.3(HCFC1):c.6068+11A>G
NM_005334.3(HCFC1):c.6068+13C>G rs2148553916
NM_005334.3(HCFC1):c.6068+14C>T
NM_005334.3(HCFC1):c.6068+15C>G
NM_005334.3(HCFC1):c.6068+19T>C
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.609T>C (p.His203=)
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.712+11T>A
NM_005334.3(HCFC1):c.712+13G>T
NM_005334.3(HCFC1):c.712+6C>T rs1165322624
NM_005334.3(HCFC1):c.712+9GGT[3]
NM_005334.3(HCFC1):c.713-10CT[2]
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-17C>T
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) rs2065524568
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.797+13T>A
NM_005334.3(HCFC1):c.797+15A>C
NM_005334.3(HCFC1):c.797+20C>T
NM_005334.3(HCFC1):c.797+9C>G
NM_005334.3(HCFC1):c.797+9C>T
NM_005334.3(HCFC1):c.798-11C>T
NM_005334.3(HCFC1):c.798-11_798-9del
NM_005334.3(HCFC1):c.798-15C>T
NM_005334.3(HCFC1):c.798-5C>T
NM_005334.3(HCFC1):c.798-9C>T
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
NM_005334.3(HCFC1):c.904+10C>T
NM_005334.3(HCFC1):c.904+13C>T
NM_005334.3(HCFC1):c.904+16G>A
NM_005334.3(HCFC1):c.904+20C>T
NM_005334.3(HCFC1):c.905-9C>T
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.107C>G (p.Pro36Arg)
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs) rs2149323203
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg) rs2149323209
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
NM_015506.3(MMACHC):c.141C>G (p.Thr47=) rs936938761
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.146C>T (p.Ala49Val)
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.15C>T (p.Val5=) rs902026116
NM_015506.3(MMACHC):c.160A>G (p.Ser54Gly)
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg) rs750127773
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
NM_015506.3(MMACHC):c.173T>C (p.Met58Thr)
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.210C>T (p.Cys70=) rs2149323253
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile) rs772225967
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=) rs2149323265
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=) rs2149323280
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.270T>G (p.Val90=) rs2149323292
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276+13C>G rs543041810
NM_015506.3(MMACHC):c.276+13C>T
NM_015506.3(MMACHC):c.276+13_276+14del
NM_015506.3(MMACHC):c.276+17T>C
NM_015506.3(MMACHC):c.276+20C>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.276+8A>G
NM_015506.3(MMACHC):c.276+9G>A
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-10A>C
NM_015506.3(MMACHC):c.277-13T>C
NM_015506.3(MMACHC):c.277-14G>A
NM_015506.3(MMACHC):c.277-15T>G
NM_015506.3(MMACHC):c.277-17_277-16insA
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-20T>C
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>T
NM_015506.3(MMACHC):c.277-6T>C
NM_015506.3(MMACHC):c.277-7G>A rs1258697986
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.277-9C>T
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.288G>A (p.Glu96=) rs1643664191
NM_015506.3(MMACHC):c.291G>A (p.Leu97=) rs566356386
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.304A>G (p.Ile102Val)
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.30G>C (p.Gln10His)
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del) rs1557607881
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.339C>G (p.Pro113=) rs2149323560
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) rs2149323575
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) rs1643666069
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>C (p.His122=) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.369A>T (p.Val123=) rs1643666589
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.374G>C (p.Gly125Ala)
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.393A>C (p.Gln131His) rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter) rs2149323618
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.429+12A>C
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.429+14T>A
NM_015506.3(MMACHC):c.429+14T>C
NM_015506.3(MMACHC):c.429+18_429+21del
NM_015506.3(MMACHC):c.429+1G>C rs1643668441
NM_015506.3(MMACHC):c.429+20T>C
NM_015506.3(MMACHC):c.429+20T>G
NM_015506.3(MMACHC):c.429+7G>A rs1227206156
NM_015506.3(MMACHC):c.429+7_429+31del rs2149323628
NM_015506.3(MMACHC):c.429+9G>C
NM_015506.3(MMACHC):c.430-10C>A
NM_015506.3(MMACHC):c.430-10C>T rs550692873
NM_015506.3(MMACHC):c.430-11C>T
NM_015506.3(MMACHC):c.430-12C>T
NM_015506.3(MMACHC):c.430-13A>T
NM_015506.3(MMACHC):c.430-16T>C
NM_015506.3(MMACHC):c.430-1G>A
NM_015506.3(MMACHC):c.430-2A>G
NM_015506.3(MMACHC):c.430-8C>T rs1217401490
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) rs2149323799
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys) rs756413692
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.455_457del (p.Pro152del)
NM_015506.3(MMACHC):c.45G>A (p.Thr15=) rs750623781
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.468_470del (p.Trp157del)
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs) rs2149323826
NM_015506.3(MMACHC):c.47T>C (p.Leu16Pro)
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs) rs765960386
NM_015506.3(MMACHC):c.490G>A (p.Val164Met) rs1417321919
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.495G>C (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.501A>C (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.501A>G (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.534del (p.Lys178fs) rs2149323872
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.546T>C (p.Cys182=) rs2149323890
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs) rs1553162934
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.557G>A (p.Arg186Lys)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn) rs748747319
NM_015506.3(MMACHC):c.564C>T (p.Asp188=) rs1397062260
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.573C>T (p.Ala191=) rs750572915
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.579C>G (p.Leu193=) rs766342926
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
NM_015506.3(MMACHC):c.592T>C (p.Phe198Leu)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) rs796051997
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) rs1643682280
NM_015506.3(MMACHC):c.604G>T (p.Asp202Tyr)
NM_015506.3(MMACHC):c.611C>T (p.Thr204Ile)
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
NM_015506.3(MMACHC):c.619del (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) rs192924272
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
NM_015506.3(MMACHC):c.63C>T (p.Phe21=) rs2149320920
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer) rs2149323994
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs) rs1363738186
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.655C>G (p.Gln219Glu)
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) rs781527733
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
NM_015506.3(MMACHC):c.678A>G (p.Pro226=) rs2149324023
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.687del (p.Gln229fs)
NM_015506.3(MMACHC):c.689G>A (p.Arg230Gln)
NM_015506.3(MMACHC):c.696C>G (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
NM_015506.3(MMACHC):c.707T>C (p.Leu236Ser)
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720A>G (p.Ser240=) rs764969563
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.729T>G (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.732T>C (p.Ser244=) rs1173232857
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.748C>A (p.Leu250Ile)
NM_015506.3(MMACHC):c.753C>A (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.753C>T (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
NM_015506.3(MMACHC):c.762A>G (p.Thr254=) rs771203889
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.764C>T (p.Pro255Leu)
NM_015506.3(MMACHC):c.766G>A (p.Ala256Thr)
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>A (p.Phe26Leu)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
NM_015506.3(MMACHC):c.790A>C (p.Ser264Arg)
NM_015506.3(MMACHC):c.791G>A (p.Ser264Asn)
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs) rs1643689610
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.81+10T>G rs2149320953
NM_015506.3(MMACHC):c.81+11C>A
NM_015506.3(MMACHC):c.81+13C>G
NM_015506.3(MMACHC):c.81+13C>T
NM_015506.3(MMACHC):c.81+15C>T
NM_015506.3(MMACHC):c.81+17T>C
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.81+1G>T
NM_015506.3(MMACHC):c.81+2T>C
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
NM_015506.3(MMACHC):c.813C>T (p.Ser271=) rs1311947307
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-16G>C
NM_015506.3(MMACHC):c.82-17T>C
NM_015506.3(MMACHC):c.82-18C>T
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.82-2A>G
NM_015506.3(MMACHC):c.82-7G>A
NM_015506.3(MMACHC):c.82-8T>C
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.828A>C (p.Pro276=) rs1288893138
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.845C>G (p.Pro282Arg)
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer) rs1289618918
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
NM_015506.3:c.275_278del
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-11G>C
NM_015702.3(MMADHC):c.10-13G>A
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
NM_015702.3(MMADHC):c.105A>T (p.Gly35=) rs761480889
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=) rs1190732521
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=) rs2105049895
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
NM_015702.3(MMADHC):c.154+17A>C
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.154+20G>C
NM_015702.3(MMADHC):c.154+9A>T rs2105049874
NM_015702.3(MMADHC):c.155-10T>C
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.155-12_155-10del
NM_015702.3(MMADHC):c.155-16T>G
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.155-17T>C
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.155-6C>T
NM_015702.3(MMADHC):c.155-7T>C rs1305728146
NM_015702.3(MMADHC):c.155-8C>G rs1349035917
NM_015702.3(MMADHC):c.157_191del (p.Ser53fs)
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.168G>A (p.Val56=) rs2105048289
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.192C>A (p.Pro64=) rs2105048270
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) rs1334273037
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=) rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.249C>T (p.His83=)
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
NM_015702.3(MMADHC):c.268C>T (p.Gln90Ter)
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
NM_015702.3(MMADHC):c.309A>T (p.Leu103=) rs1053884096
NM_015702.3(MMADHC):c.30A>G (p.Arg10=) rs749344711
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) rs2105048127
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.369dup (p.Gln124fs)
NM_015702.3(MMADHC):c.372+17A>G
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.372+8G>A rs2105048110
NM_015702.3(MMADHC):c.372+8G>C rs2105048110
NM_015702.3(MMADHC):c.372+8G>T
NM_015702.3(MMADHC):c.373-10dup rs1682721920
NM_015702.3(MMADHC):c.373-13T>C
NM_015702.3(MMADHC):c.373-13T>G
NM_015702.3(MMADHC):c.373-14C>G
NM_015702.3(MMADHC):c.373-18T>C
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.373-4T>G
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.373-5C>T
NM_015702.3(MMADHC):c.373-8C>G
NM_015702.3(MMADHC):c.373-8C>T
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
NM_015702.3(MMADHC):c.393A>G (p.Glu131=) rs1682721203
NM_015702.3(MMADHC):c.39C>T (p.Ser13=) rs543128117
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) rs768142805
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.456A>G (p.Thr152=) rs374470946
NM_015702.3(MMADHC):c.459T>C (p.Cys153=) rs1323984126
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) rs1226772166
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_015702.3(MMADHC):c.478+10G>A
NM_015702.3(MMADHC):c.478+12T>C
NM_015702.3(MMADHC):c.478+15A>T
NM_015702.3(MMADHC):c.478+19T>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.478+7C>A
NM_015702.3(MMADHC):c.478+7C>T rs2105046042
NM_015702.3(MMADHC):c.478+8A>T
NM_015702.3(MMADHC):c.478+9T>C rs1573877066
NM_015702.3(MMADHC):c.479-11_479-9del rs777304368
NM_015702.3(MMADHC):c.479-13T>C
NM_015702.3(MMADHC):c.479-15T>A
NM_015702.3(MMADHC):c.479-18G>C
NM_015702.3(MMADHC):c.479-20A>G
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.479-4G>A rs2105045611
NM_015702.3(MMADHC):c.479-6T>C rs1682708794
NM_015702.3(MMADHC):c.479-7T>A rs1246748373
NM_015702.3(MMADHC):c.479-7T>C rs1246748373
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
NM_015702.3(MMADHC):c.48A>C (p.Pro16=) rs2105050018
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) rs1347714473
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) rs369822209
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
NM_015702.3(MMADHC):c.534A>G (p.Val178=) rs1268371654
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
NM_015702.3(MMADHC):c.544dup (p.Thr182fs) rs1308639482
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs) rs1682706954
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) rs2105045491
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
NM_015702.3(MMADHC):c.601T>C (p.Leu201=) rs2105045479
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+11C>G
NM_015702.3(MMADHC):c.609+13A>G
NM_015702.3(MMADHC):c.609+14T>C
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.609+8T>G
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.610-12C>T
NM_015702.3(MMADHC):c.610-13A>G
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.610-4G>A rs776311269
NM_015702.3(MMADHC):c.610-8C>T
NM_015702.3(MMADHC):c.610-8del
NM_015702.3(MMADHC):c.610-9C>A
NM_015702.3(MMADHC):c.610-9C>G
NM_015702.3(MMADHC):c.612C>T (p.Phe204=) rs1573874420
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) rs2105042265
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter) rs141093638
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=) rs2105042235
NM_015702.3(MMADHC):c.672T>C (p.Phe224=) rs2105042231
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) rs766184567
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) rs2105042210
NM_015702.3(MMADHC):c.696+16T>C
NM_015702.3(MMADHC):c.696+17T>A
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.697-10A>G
NM_015702.3(MMADHC):c.697-16G>A
NM_015702.3(MMADHC):c.697-17C>T
NM_015702.3(MMADHC):c.697-18del
NM_015702.3(MMADHC):c.697-21_697-7dup
NM_015702.3(MMADHC):c.697-4T>C
NM_015702.3(MMADHC):c.697-5C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.708A>G (p.Pro236=) rs550333538
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
NM_015702.3(MMADHC):c.714A>C (p.Thr238=) rs2105041533
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.795T>C (p.Ile265=) rs1682615780
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) rs2105041421
NM_015702.3(MMADHC):c.819T>C (p.His273=) rs752425275
NM_015702.3(MMADHC):c.822A>G (p.Val274=) rs1474967244
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.840C>T (p.Phe280=) rs2105041390
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.864T>C (p.His288=)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_015702.3(MMADHC):c.876A>G (p.Lys292=) rs1558844562
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
NM_015702.3(MMADHC):c.885A>C (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.885A>G (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
NM_015702.3(MMADHC):c.9+12A>T
NM_015702.3(MMADHC):c.9+16C>T
NM_015702.3(MMADHC):c.9+17T>A rs372601477
NM_015702.3(MMADHC):c.9+17T>G
NM_015702.3(MMADHC):c.9+18T>G rs2105053453
NM_015702.3(MMADHC):c.9+19A>C
NM_015702.3(MMADHC):c.9+1G>A
NM_015702.3(MMADHC):c.9+5G>A
NM_015702.3(MMADHC):c.90C>G (p.Ala30=) rs2105049979
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
NM_015702.3(MMADHC):c.96G>T (p.Ser32=) rs1366609158
NM_015702.3(MMADHC):c.99T>C (p.Thr33=) rs368111926
NM_016579.4(CD320):c.111G>T (p.Pro37=)
NM_016579.4(CD320):c.11G>A (p.Gly4Asp) rs2232774
NM_016579.4(CD320):c.11G>C (p.Gly4Ala) rs2232774
NM_016579.4(CD320):c.139G>C (p.Ala47Pro)
NM_016579.4(CD320):c.142+10G>A
NM_016579.4(CD320):c.142+4A>G
NM_016579.4(CD320):c.142G>C (p.Gly48Arg)
NM_016579.4(CD320):c.143-5C>T
NM_016579.4(CD320):c.166C>T (p.Pro56Ser)
NM_016579.4(CD320):c.167C>T (p.Pro56Leu) rs1329946054
NM_016579.4(CD320):c.168_171del (p.Thr57fs)
NM_016579.4(CD320):c.178C>T (p.Gln60Ter) rs1281977713
NM_016579.4(CD320):c.179A>T (p.Gln60Leu)
NM_016579.4(CD320):c.195_223del (p.Leu66fs)
NM_016579.4(CD320):c.229G>A (p.Asp77Asn)
NM_016579.4(CD320):c.240C>T (p.Cys80=)
NM_016579.4(CD320):c.242G>A (p.Ser81Asn)
NM_016579.4(CD320):c.245A>T (p.Asp82Val)
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016579.4(CD320):c.268+15C>T
NM_016579.4(CD320):c.268+4A>C
NM_016579.4(CD320):c.302C>G (p.Pro101Arg)
NM_016579.4(CD320):c.305C>T (p.Pro102Leu) rs767897892
NM_016579.4(CD320):c.314G>T (p.Gly105Val)
NM_016579.4(CD320):c.32C>T (p.Ala11Val) rs567898376
NM_016579.4(CD320):c.337G>A (p.Val113Ile)
NM_016579.4(CD320):c.350C>T (p.Ser117Phe)
NM_016579.4(CD320):c.356G>T (p.Gly119Val)
NM_016579.4(CD320):c.386G>T (p.Arg129Leu) rs139064611
NM_016579.4(CD320):c.412C>A (p.Arg138Ser) rs201166605
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
NM_016579.4(CD320):c.446C>T (p.Thr149Met)
NM_016579.4(CD320):c.451C>T (p.Arg151Cys) rs769150463
NM_016579.4(CD320):c.456C>T (p.Cys152=) rs758485696
NM_016579.4(CD320):c.477C>A (p.Pro159=) rs201828443
NM_016579.4(CD320):c.486C>T (p.Ser162=)
NM_016579.4(CD320):c.487G>A (p.Asp163Asn)
NM_016579.4(CD320):c.495C>G (p.Leu165=)
NM_016579.4(CD320):c.495C>T (p.Leu165=) rs199545496
NM_016579.4(CD320):c.502+13G>C
NM_016579.4(CD320):c.502+3A>G
NM_016579.4(CD320):c.502G>A (p.Gly168Arg)
NM_016579.4(CD320):c.503-17G>T
NM_016579.4(CD320):c.503-18C>T rs114265368
NM_016579.4(CD320):c.506C>T (p.Thr169Ile)
NM_016579.4(CD320):c.509A>G (p.Asn170Ser)
NM_016579.4(CD320):c.521C>T (p.Pro174Leu)
NM_016579.4(CD320):c.522G>A (p.Pro174=) rs79658260
NM_016579.4(CD320):c.551C>T (p.Pro184Leu)
NM_016579.4(CD320):c.555G>A (p.Val185=)
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)
NM_016579.4(CD320):c.599G>T (p.Gly200Val)
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup) rs750768529
NM_016579.4(CD320):c.622_624del (p.Val208del)
NM_016579.4(CD320):c.633C>T (p.Val211=)
NM_016579.4(CD320):c.634G>A (p.Gly212Arg)
NM_016579.4(CD320):c.634G>T (p.Gly212Trp) rs550390075
NM_016579.4(CD320):c.660A>C (p.Gly220=)
NM_016579.4(CD320):c.679A>G (p.Thr227Ala) rs766740010
NM_016579.4(CD320):c.681T>C (p.Thr227=)
NM_016579.4(CD320):c.685T>C (p.Tyr229His)
NM_016579.4(CD320):c.6C>T (p.Ser2=) rs749442494
NM_016579.4(CD320):c.708G>A (p.Ala236=) rs768870573
NM_016579.4(CD320):c.708G>T (p.Ala236=)
NM_016579.4(CD320):c.75C>T (p.Leu25=) rs371432802
NM_016579.4(CD320):c.760C>A (p.Arg254=) rs750760449
NM_016579.4(CD320):c.76G>A (p.Gly26Ser)
NM_016579.4(CD320):c.800C>T (p.Ala267Val)
NM_016579.4(CD320):c.839C>T (p.Ser280Leu)
NM_016579.4(CD320):c.96G>C (p.Glu32Asp)
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr) rs2149844901
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) rs1766127830
NM_018368.4(LMBRD1):c.1083+11_1083+14del
NM_018368.4(LMBRD1):c.1083+12A>T
NM_018368.4(LMBRD1):c.1083+15A>C
NM_018368.4(LMBRD1):c.1083+16A>G
NM_018368.4(LMBRD1):c.1084-12dup rs757172535
NM_018368.4(LMBRD1):c.1084-16C>A
NM_018368.4(LMBRD1):c.1084-16C>T
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1084-20A>G
NM_018368.4(LMBRD1):c.1084-3dup
NM_018368.4(LMBRD1):c.1084-4del rs757172535
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) rs2149844541
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) rs2149844500
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1187_1188+3del
NM_018368.4(LMBRD1):c.1188+10T>A
NM_018368.4(LMBRD1):c.1188+16A>G
NM_018368.4(LMBRD1):c.1189-12T>G
NM_018368.4(LMBRD1):c.1189-13C>T
NM_018368.4(LMBRD1):c.1189-17C>T
NM_018368.4(LMBRD1):c.1189-19G>C rs767672251
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1189-4C>G
NM_018368.4(LMBRD1):c.1189-4C>T rs199650812
NM_018368.4(LMBRD1):c.1189-8C>A
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.1339-12T>G
NM_018368.4(LMBRD1):c.1339-18T>A
NM_018368.4(LMBRD1):c.1339-8T>C
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) rs764930914
NM_018368.4(LMBRD1):c.1417+12T>C
NM_018368.4(LMBRD1):c.1418-14A>G
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
NM_018368.4(LMBRD1):c.1509+12T>C rs2149832420
NM_018368.4(LMBRD1):c.1509+13A>G
NM_018368.4(LMBRD1):c.1509+15C>T
NM_018368.4(LMBRD1):c.1509+18A>G
NM_018368.4(LMBRD1):c.1509+20G>A rs116095397
NM_018368.4(LMBRD1):c.1509+7G>A
NM_018368.4(LMBRD1):c.1510-11T>C
NM_018368.4(LMBRD1):c.1510-16T>G
NM_018368.4(LMBRD1):c.1510-4A>G
NM_018368.4(LMBRD1):c.1510-9A>C
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) rs758878362
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val) rs750928457
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
NM_018368.4(LMBRD1):c.1A>G (p.Met1Val)
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
NM_018368.4(LMBRD1):c.246+10A>G
NM_018368.4(LMBRD1):c.246+16C>T
NM_018368.4(LMBRD1):c.247-13C>A
NM_018368.4(LMBRD1):c.247-14T>A
NM_018368.4(LMBRD1):c.247-17G>A
NM_018368.4(LMBRD1):c.247-20A>G
NM_018368.4(LMBRD1):c.247-6T>C
NM_018368.4(LMBRD1):c.247-8T>A rs769329039
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) rs769952932
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) rs756284919
NM_018368.4(LMBRD1):c.307+13C>T
NM_018368.4(LMBRD1):c.307+15G>A
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-17A>G
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.308-5C>T
NM_018368.4(LMBRD1):c.308-6C>T
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
NM_018368.4(LMBRD1):c.357C>T (p.Val119=) rs2149877968
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys) rs1765174962
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.405+17T>A
NM_018368.4(LMBRD1):c.405+18A>G
NM_018368.4(LMBRD1):c.405+19G>C
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.405+9C>A
NM_018368.4(LMBRD1):c.406-18T>C
NM_018368.4(LMBRD1):c.406-8G>A
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
NM_018368.4(LMBRD1):c.44G>A (p.Trp15Ter)
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
NM_018368.4(LMBRD1):c.473+10G>C
NM_018368.4(LMBRD1):c.473+11A>T
NM_018368.4(LMBRD1):c.474-16A>G
NM_018368.4(LMBRD1):c.474-4G>A
NM_018368.4(LMBRD1):c.474-6T>C
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
NM_018368.4(LMBRD1):c.553G>T (p.Gly185Ter)
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
NM_018368.4(LMBRD1):c.562+10G>T
NM_018368.4(LMBRD1):c.562+13T>C
NM_018368.4(LMBRD1):c.562+14T>G
NM_018368.4(LMBRD1):c.562+15T>C
NM_018368.4(LMBRD1):c.562+18del
NM_018368.4(LMBRD1):c.562+18dup
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.562+1del
NM_018368.4(LMBRD1):c.562+4_562+7del
NM_018368.4(LMBRD1):c.562+7A>G
NM_018368.4(LMBRD1):c.563-10T>G
NM_018368.4(LMBRD1):c.563-11T>C rs1767012664
NM_018368.4(LMBRD1):c.563-13del
NM_018368.4(LMBRD1):c.563-15T>A
NM_018368.4(LMBRD1):c.563-18G>A
NM_018368.4(LMBRD1):c.563-19A>C
NM_018368.4(LMBRD1):c.563-19A>G
NM_018368.4(LMBRD1):c.563-20_563-19del
NM_018368.4(LMBRD1):c.563-6del
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=) rs2149901083
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
NM_018368.4(LMBRD1):c.632dup (p.Tyr211Ter)
NM_018368.4(LMBRD1):c.636+13G>A
NM_018368.4(LMBRD1):c.636+18A>G
NM_018368.4(LMBRD1):c.636+19A>C
NM_018368.4(LMBRD1):c.636+7G>T
NM_018368.4(LMBRD1):c.637-15T>A
NM_018368.4(LMBRD1):c.637-15T>C
NM_018368.4(LMBRD1):c.637-8T>C
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser) rs2149856480
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys) rs2149856461
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
NM_018368.4(LMBRD1):c.69+10G>T
NM_018368.4(LMBRD1):c.69+11C>G
NM_018368.4(LMBRD1):c.69+11C>T
NM_018368.4(LMBRD1):c.69+12G>A
NM_018368.4(LMBRD1):c.69+15T>C
NM_018368.4(LMBRD1):c.69+17G>C
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+20T>C
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.69+8dup
NM_018368.4(LMBRD1):c.69+9G>A
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=) rs753043203
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
NM_018368.4(LMBRD1):c.70-20C>G
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) rs1766553572
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
NM_018368.4(LMBRD1):c.760A>T (p.Lys254Ter)
NM_018368.4(LMBRD1):c.762+11G>A
NM_018368.4(LMBRD1):c.762+12T>C
NM_018368.4(LMBRD1):c.762+15T>C
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.762+7T>G
NM_018368.4(LMBRD1):c.763-10T>C
NM_018368.4(LMBRD1):c.763-11G>C
NM_018368.4(LMBRD1):c.763-13C>A
NM_018368.4(LMBRD1):c.763-19T>G
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
NM_018368.4(LMBRD1):c.77dup (p.Leu26fs)
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
NM_018368.4(LMBRD1):c.915+16A>G
NM_018368.4(LMBRD1):c.915+16A>T
NM_018368.4(LMBRD1):c.915+18A>T
NM_018368.4(LMBRD1):c.915+19A>G
NM_018368.4(LMBRD1):c.916-13T>C
NM_018368.4(LMBRD1):c.916-1G>T
NM_018368.4(LMBRD1):c.916-7C>T
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val) rs1409901040
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) rs2149845543
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
NM_018368.4(LMBRD1):c.980+10G>A
NM_018368.4(LMBRD1):c.980+13G>A
NM_018368.4(LMBRD1):c.980+14A>G
NM_018368.4(LMBRD1):c.980+15C>T
NM_018368.4(LMBRD1):c.980+3A>G
NM_018368.4(LMBRD1):c.981-10T>A
NM_018368.4(LMBRD1):c.981-10T>C
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_018368.4(LMBRD1):c.981-17T>C
NM_018368.4(LMBRD1):c.981-3del
NM_018368.4(LMBRD1):c.981-4T>G
NM_018368.4(LMBRD1):c.981-4_981-3dup
NM_018368.4(LMBRD1):c.981-8T>A
NM_018368.4(LMBRD1):c.981-9T>A rs2149844964
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) rs766881860
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1006+12C>G
NM_030943.4(AMN):c.1006+12_1006+35dup
NM_030943.4(AMN):c.1006+13G>A
NM_030943.4(AMN):c.1006+14C>T
NM_030943.4(AMN):c.1006+16_1006+30del rs386834160
NM_030943.4(AMN):c.1006+18_1006+27del
NM_030943.4(AMN):c.1006+23_1006+36del
NM_030943.4(AMN):c.1006+27C>T
NM_030943.4(AMN):c.1006+28G>T
NM_030943.4(AMN):c.1006+33G>A
NM_030943.4(AMN):c.1006+33G>T
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1006+36_1007-29del rs386834162
NM_030943.4(AMN):c.1006+36_1007-34dup
NM_030943.4(AMN):c.1006+6C>T
NM_030943.4(AMN):c.1006+8C>A
NM_030943.4(AMN):c.1006+9G>A
NM_030943.4(AMN):c.1006+9G>T
NM_030943.4(AMN):c.1007-11C>G
NM_030943.4(AMN):c.1007-11C>T
NM_030943.4(AMN):c.1007-13C>T
NM_030943.4(AMN):c.1007-14C>T
NM_030943.4(AMN):c.1007-15G>A
NM_030943.4(AMN):c.1007-16G>A
NM_030943.4(AMN):c.1007-29G>C
NM_030943.4(AMN):c.1007-30G>C
NM_030943.4(AMN):c.1007-30G>T
NM_030943.4(AMN):c.1007-31G>C
NM_030943.4(AMN):c.1007-31_1007-30insCC
NM_030943.4(AMN):c.1007-32C>T
NM_030943.4(AMN):c.1007-33G>T
NM_030943.4(AMN):c.1007-34del
NM_030943.4(AMN):c.1007-38_1007-34dup
NM_030943.4(AMN):c.1007-39C>T
NM_030943.4(AMN):c.1007-3C>T rs1318731733
NM_030943.4(AMN):c.1007-4G>A
NM_030943.4(AMN):c.1007-7G>A
NM_030943.4(AMN):c.1007-9C>T
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.4(AMN):c.1017C>A (p.Leu339=) rs1230984626
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
NM_030943.4(AMN):c.1036A>T (p.Met346Leu) rs1215795347
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.1041_1044dup (p.Ser349fs)
NM_030943.4(AMN):c.1056C>A (p.His352Gln) rs773203683
NM_030943.4(AMN):c.105C>T (p.Asn35=)
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
NM_030943.4(AMN):c.1079G>A (p.Gly360Glu)
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) rs1034496756
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
NM_030943.4(AMN):c.1093_1100dup (p.Ala368fs)
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
NM_030943.4(AMN):c.1114dup (p.Ala372fs)
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) rs1428691401
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
NM_030943.4(AMN):c.1125_1133dup (p.Val378_Ala379insLeuLeuVal)
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
NM_030943.4(AMN):c.1134_1147del (p.Pro381fs)
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
NM_030943.4(AMN):c.1142C>T (p.Pro381Leu)
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
NM_030943.4(AMN):c.1150C>T (p.Arg384Cys)
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1153C>T (p.Arg385Cys)
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
NM_030943.4(AMN):c.1169+10G>A
NM_030943.4(AMN):c.1169+14G>A
NM_030943.4(AMN):c.1169+16G>T
NM_030943.4(AMN):c.1169+17_1169+36del
NM_030943.4(AMN):c.1169+19C>T
NM_030943.4(AMN):c.1169+2T>C
NM_030943.4(AMN):c.1170-10A>G
NM_030943.4(AMN):c.1170-12C>T
NM_030943.4(AMN):c.1170-14C>T
NM_030943.4(AMN):c.1170-16C>T
NM_030943.4(AMN):c.1170-17C>T
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1170-7C>A
NM_030943.4(AMN):c.1170-7C>T
NM_030943.4(AMN):c.1170-8G>A
NM_030943.4(AMN):c.1170-8G>C
NM_030943.4(AMN):c.1170-9C>T
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
NM_030943.4(AMN):c.1182C>T (p.His394=)
NM_030943.4(AMN):c.1183G>A (p.Glu395Lys)
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
NM_030943.4(AMN):c.119G>A (p.Arg40Gln)
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
NM_030943.4(AMN):c.1210C>T (p.Leu404Phe)
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
NM_030943.4(AMN):c.1222A>G (p.Asn408Asp)
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
NM_030943.4(AMN):c.1240A>G (p.Thr414Ala)
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
NM_030943.4(AMN):c.1257+10C>A
NM_030943.4(AMN):c.1257+15G>A
NM_030943.4(AMN):c.1257+16G>A
NM_030943.4(AMN):c.1257+16G>C
NM_030943.4(AMN):c.1257+17G>A
NM_030943.4(AMN):c.1257+18G>A
NM_030943.4(AMN):c.1257+19G>A
NM_030943.4(AMN):c.1257+20G>A
NM_030943.4(AMN):c.1257+20G>C
NM_030943.4(AMN):c.1257+20del
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.1257+7G>T
NM_030943.4(AMN):c.1257+9del
NM_030943.4(AMN):c.1257+9dup
NM_030943.4(AMN):c.1257G>A (p.Leu419=) rs2139313588
NM_030943.4(AMN):c.1258-14C>T
NM_030943.4(AMN):c.1258-15C>A
NM_030943.4(AMN):c.1258-15C>T
NM_030943.4(AMN):c.1258-4G>C
NM_030943.4(AMN):c.1258-5C>T
NM_030943.4(AMN):c.1258-8C>A
NM_030943.4(AMN):c.1258-9A>C
NM_030943.4(AMN):c.125C>T (p.Pro42Leu)
NM_030943.4(AMN):c.126G>A (p.Pro42=)
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
NM_030943.4(AMN):c.1287G>C (p.Pro429=) rs2139314090
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
NM_030943.4(AMN):c.1295C>T (p.Ala432Val)
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
NM_030943.4(AMN):c.1298C>T (p.Ala433Val)
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
NM_030943.4(AMN):c.129C>T (p.Cys43=)
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) rs2139314176
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
NM_030943.4(AMN):c.1314C>T (p.His438=)
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) rs1354241478
NM_030943.4(AMN):c.1333C>G (p.Leu445Val)
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
NM_030943.4(AMN):c.1341_1343delinsGGGGGCCGA (p.Ala453_Ter454insGluAla)
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
NM_030943.4(AMN):c.1347_1348insTCGGGCC (p.Glu450fs) rs1566829819
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3]) rs763564473
NM_030943.4(AMN):c.134GCG[1] (p.Gly46del)
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
NM_030943.4(AMN):c.135C>T (p.Gly45=)
NM_030943.4(AMN):c.136G>A (p.Gly46Ser)
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
NM_030943.4(AMN):c.141C>G (p.Ala47=)
NM_030943.4(AMN):c.141C>T (p.Ala47=)
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.153G>A (p.Pro51=)
NM_030943.4(AMN):c.153G>C (p.Pro51=)
NM_030943.4(AMN):c.153G>T (p.Pro51=)
NM_030943.4(AMN):c.155C>G (p.Ala52Gly)
NM_030943.4(AMN):c.156G>A (p.Ala52=)
NM_030943.4(AMN):c.162+12C>G
NM_030943.4(AMN):c.162+12C>T
NM_030943.4(AMN):c.162+13G>A
NM_030943.4(AMN):c.162+15C>T
NM_030943.4(AMN):c.162+19G>A
NM_030943.4(AMN):c.162+8G>A
NM_030943.4(AMN):c.163-11T>C
NM_030943.4(AMN):c.163-13C>A
NM_030943.4(AMN):c.163-16C>T
NM_030943.4(AMN):c.163-20G>A
NM_030943.4(AMN):c.163-3C>T
NM_030943.4(AMN):c.163-6C>T
NM_030943.4(AMN):c.163-7C>T
NM_030943.4(AMN):c.168G>A (p.Val56=)
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
NM_030943.4(AMN):c.177G>A (p.Leu59=)
NM_030943.4(AMN):c.180G>C (p.Val60=)
NM_030943.4(AMN):c.184G>A (p.Glu62Lys)
NM_030943.4(AMN):c.192C>T (p.His64=)
NM_030943.4(AMN):c.195C>T (p.Ala65=)
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
NM_030943.4(AMN):c.207+11G>A
NM_030943.4(AMN):c.207+11G>C
NM_030943.4(AMN):c.207+12C>A
NM_030943.4(AMN):c.207+13T>C
NM_030943.4(AMN):c.207+14G>T
NM_030943.4(AMN):c.207+17A>C
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.207+8C>T
NM_030943.4(AMN):c.207G>A (p.Met69Ile)
NM_030943.4(AMN):c.208-13_211del
NM_030943.4(AMN):c.208-14C>T
NM_030943.4(AMN):c.208-15C>G
NM_030943.4(AMN):c.208-17G>T
NM_030943.4(AMN):c.208-18dup
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.208-20T>C
NM_030943.4(AMN):c.213G>A (p.Leu71=)
NM_030943.4(AMN):c.219G>A (p.Leu73=)
NM_030943.4(AMN):c.21C>A (p.Val7=) rs768522233
NM_030943.4(AMN):c.21C>T (p.Val7=) rs768522233
NM_030943.4(AMN):c.223_226dup (p.Glu76fs)
NM_030943.4(AMN):c.235C>T (p.Leu79=)
NM_030943.4(AMN):c.240T>C (p.Ala80=)
NM_030943.4(AMN):c.246A>G (p.Gly82=)
NM_030943.4(AMN):c.249C>A (p.Ala83=)
NM_030943.4(AMN):c.249C>G (p.Ala83=) rs748549145
NM_030943.4(AMN):c.249C>T (p.Ala83=)
NM_030943.4(AMN):c.24G>T (p.Leu8=)
NM_030943.4(AMN):c.250G>A (p.Gly84Arg)
NM_030943.4(AMN):c.258C>T (p.Gly86=)
NM_030943.4(AMN):c.264A>G (p.Ser88=)
NM_030943.4(AMN):c.268G>A (p.Val90Met)
NM_030943.4(AMN):c.276G>C (p.Ser92=)
NM_030943.4(AMN):c.280C>T (p.Leu94=)
NM_030943.4(AMN):c.282G>A (p.Leu94=)
NM_030943.4(AMN):c.290G>A (p.Gly97Asp)
NM_030943.4(AMN):c.294G>A (p.Ala98=)
NM_030943.4(AMN):c.294G>C (p.Ala98=)
NM_030943.4(AMN):c.295+11C>T
NM_030943.4(AMN):c.295+15C>T
NM_030943.4(AMN):c.295+17G>A
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.295+20G>A
NM_030943.4(AMN):c.295+7C>G
NM_030943.4(AMN):c.295+7C>T
NM_030943.4(AMN):c.295+8G>A
NM_030943.4(AMN):c.295+9G>A
NM_030943.4(AMN):c.296-11C>T
NM_030943.4(AMN):c.296-16A>T
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.296-6del
NM_030943.4(AMN):c.296-9C>G
NM_030943.4(AMN):c.296-9C>T rs373204347
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_030943.4(AMN):c.306C>A (p.Ala102=)
NM_030943.4(AMN):c.306C>T (p.Ala102=)
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
NM_030943.4(AMN):c.325C>T (p.Arg109Cys)
NM_030943.4(AMN):c.333C>T (p.Ser111=)
NM_030943.4(AMN):c.340G>A (p.Asp114Asn)
NM_030943.4(AMN):c.349C>T (p.Leu117=)
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
NM_030943.4(AMN):c.351G>C (p.Leu117=)
NM_030943.4(AMN):c.357C>T (p.Arg119=)
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
NM_030943.4(AMN):c.371C>T (p.Ala124Val)
NM_030943.4(AMN):c.375T>C (p.Pro125=)
NM_030943.4(AMN):c.378C>T (p.Gly126=)
NM_030943.4(AMN):c.381C>G (p.Leu127=)
NM_030943.4(AMN):c.384C>T (p.Phe128=)
NM_030943.4(AMN):c.387C>T (p.Phe129=)
NM_030943.4(AMN):c.390G>A (p.Val130=)
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
NM_030943.4(AMN):c.396C>T (p.Ala132=)
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
NM_030943.4(AMN):c.414C>T (p.Arg138=)
NM_030943.4(AMN):c.423C>T (p.Asp141=) rs2139309288
NM_030943.4(AMN):c.429C>T (p.Phe143=)
NM_030943.4(AMN):c.43+10G>A
NM_030943.4(AMN):c.43+11A>G
NM_030943.4(AMN):c.43+15C>T
NM_030943.4(AMN):c.43+16A>G
NM_030943.4(AMN):c.43+17C>G
NM_030943.4(AMN):c.43+17C>T
NM_030943.4(AMN):c.43+17_43+37del
NM_030943.4(AMN):c.43+18C>T
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.43+5G>A
NM_030943.4(AMN):c.43+7C>T
NM_030943.4(AMN):c.43+8G>A rs1891084049
NM_030943.4(AMN):c.43+9G>A
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
NM_030943.4(AMN):c.44-15T>C
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-20C>T
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.44-4C>T
NM_030943.4(AMN):c.44-6C>T
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.44-9C>G
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
NM_030943.4(AMN):c.441T>C (p.Ser147=)
NM_030943.4(AMN):c.454G>A (p.Val152Met)
NM_030943.4(AMN):c.456G>A (p.Val152=)
NM_030943.4(AMN):c.459G>C (p.Gly153=) rs1286684210
NM_030943.4(AMN):c.462C>T (p.Leu154=)
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.46C>T (p.Leu16=)
NM_030943.4(AMN):c.473C>T (p.Ala158Val)
NM_030943.4(AMN):c.480C>A (p.Pro160=)
NM_030943.4(AMN):c.480C>T (p.Pro160=)
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
NM_030943.4(AMN):c.493dup (p.Ser165fs)
NM_030943.4(AMN):c.4G>A (p.Gly2Ser)
NM_030943.4(AMN):c.504T>A (p.Ala168=)
NM_030943.4(AMN):c.509del (p.Gly170fs)
NM_030943.4(AMN):c.510C>A (p.Gly170=)
NM_030943.4(AMN):c.513+14G>A
NM_030943.4(AMN):c.513+16A>C
NM_030943.4(AMN):c.513+19del
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.513+8C>G
NM_030943.4(AMN):c.513+8C>T rs764938272
NM_030943.4(AMN):c.514-15C>A
NM_030943.4(AMN):c.514-15C>T
NM_030943.4(AMN):c.514-19G>A
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_030943.4(AMN):c.514-4G>C
NM_030943.4(AMN):c.514-4G>T
NM_030943.4(AMN):c.514-7C>T
NM_030943.4(AMN):c.516G>C (p.Thr172=)
NM_030943.4(AMN):c.522G>A (p.Thr174=)
NM_030943.4(AMN):c.525C>T (p.Arg175=)
NM_030943.4(AMN):c.526G>A (p.Asp176Asn)
NM_030943.4(AMN):c.531G>C (p.Glu177Asp)
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
NM_030943.4(AMN):c.535C>A (p.Leu179Met)
NM_030943.4(AMN):c.545del (p.Phe182fs)
NM_030943.4(AMN):c.554C>T (p.Ser185Phe)
NM_030943.4(AMN):c.555C>T (p.Ser185=)
NM_030943.4(AMN):c.556C>A (p.Arg186Ser)
NM_030943.4(AMN):c.557G>C (p.Arg186Pro)
NM_030943.4(AMN):c.558C>T (p.Arg186=)
NM_030943.4(AMN):c.561G>A (p.Ala187=)
NM_030943.4(AMN):c.56C>T (p.Ala19Val) rs979571435
NM_030943.4(AMN):c.56_57dup (p.Val20fs)
NM_030943.4(AMN):c.579C>T (p.His193=)
NM_030943.4(AMN):c.57G>A (p.Ala19=) rs145328398
NM_030943.4(AMN):c.582G>T (p.Gly194=)
NM_030943.4(AMN):c.587del (p.Gly196fs)
NM_030943.4(AMN):c.58del (p.Val20fs)
NM_030943.4(AMN):c.591G>T (p.Ala197=)
NM_030943.4(AMN):c.597C>T (p.Ser199=)
NM_030943.4(AMN):c.600G>A (p.Val200=)
NM_030943.4(AMN):c.603C>T (p.Gly201=)
NM_030943.4(AMN):c.618G>A (p.Ala206=)
NM_030943.4(AMN):c.618G>C (p.Ala206=)
NM_030943.4(AMN):c.627G>A (p.Ser209=)
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
NM_030943.4(AMN):c.630C>T (p.Gly210=)
NM_030943.4(AMN):c.633C>T (p.Cys211=)
NM_030943.4(AMN):c.634G>T (p.Val212Phe)
NM_030943.4(AMN):c.651+10G>A
NM_030943.4(AMN):c.651+12C>A
NM_030943.4(AMN):c.651+13G>T
NM_030943.4(AMN):c.651+15A>C
NM_030943.4(AMN):c.651+16G>T
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.651+9G>A
NM_030943.4(AMN):c.652-10C>T
NM_030943.4(AMN):c.652-12C>T
NM_030943.4(AMN):c.652-14G>A
NM_030943.4(AMN):c.652-14G>T rs949145775
NM_030943.4(AMN):c.652-20A>G
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.652-4C>T
NM_030943.4(AMN):c.660G>A (p.Pro220=)
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.664_669dup (p.Cys223_Ala224insIleCys)
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
NM_030943.4(AMN):c.672G>A (p.Ala224=)
NM_030943.4(AMN):c.672G>T (p.Ala224=)
NM_030943.4(AMN):c.678G>A (p.Leu226=)
NM_030943.4(AMN):c.680T>A (p.Leu227His)
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) rs1163522093
NM_030943.4(AMN):c.682C>T (p.Gln228Ter)
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.685C>A (p.Pro229Thr)
NM_030943.4(AMN):c.687C>T (p.Pro229=)
NM_030943.4(AMN):c.690G>A (p.Leu230=)
NM_030943.4(AMN):c.693C>T (p.Gly231=)
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.702C>T (p.Cys234=)
NM_030943.4(AMN):c.705C>A (p.Pro235=)
NM_030943.4(AMN):c.705C>G (p.Pro235=)
NM_030943.4(AMN):c.707del (p.Gln236fs)
NM_030943.4(AMN):c.711C>T (p.Ala237=)
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
NM_030943.4(AMN):c.723C>T (p.Ser241=)
NM_030943.4(AMN):c.730C>T (p.Arg244Trp)
NM_030943.4(AMN):c.732G>A (p.Arg244=)
NM_030943.4(AMN):c.736C>T (p.Gln246Ter)
NM_030943.4(AMN):c.73del (p.Val25fs)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.74T>C (p.Val25Ala)
NM_030943.4(AMN):c.753C>T (p.Asp251=)
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
NM_030943.4(AMN):c.756C>A (p.Leu252=)
NM_030943.4(AMN):c.756C>T (p.Leu252=)
NM_030943.4(AMN):c.75C>A (p.Val25=)
NM_030943.4(AMN):c.75C>T (p.Val25=)
NM_030943.4(AMN):c.760+12C>T
NM_030943.4(AMN):c.760+15C>T
NM_030943.4(AMN):c.760+16G>A
NM_030943.4(AMN):c.760+18G>A
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.760+8C>T
NM_030943.4(AMN):c.760+9C>T
NM_030943.4(AMN):c.761-14C>T
NM_030943.4(AMN):c.761-15dup
NM_030943.4(AMN):c.761-20C>A
NM_030943.4(AMN):c.761-20C>T
NM_030943.4(AMN):c.761-4G>A
NM_030943.4(AMN):c.761-8C>G
NM_030943.4(AMN):c.761-9C>A
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.4(AMN):c.762A>G (p.Gly254=)
NM_030943.4(AMN):c.775C>T (p.Leu259=)
NM_030943.4(AMN):c.780C>A (p.Thr260=)
NM_030943.4(AMN):c.783C>T (p.His261=)
NM_030943.4(AMN):c.789C>T (p.Pro263=)
NM_030943.4(AMN):c.78del (p.Asn27fs)
NM_030943.4(AMN):c.791dup (p.Phe265fs) rs2139311251
NM_030943.4(AMN):c.798C>T (p.Asp266=)
NM_030943.4(AMN):c.7G>C (p.Val3Leu)
NM_030943.4(AMN):c.800T>A (p.Leu267Gln)
NM_030943.4(AMN):c.801G>C (p.Leu267=) rs1163660664
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
NM_030943.4(AMN):c.816G>A (p.Ala272=)
NM_030943.4(AMN):c.81C>T (p.Asn27=)
NM_030943.4(AMN):c.823C>G (p.Leu275Val)
NM_030943.4(AMN):c.831C>T (p.Thr277=)
NM_030943.4(AMN):c.835C>A (p.Leu279Met)
NM_030943.4(AMN):c.839G>C (p.Gly280Ala)
NM_030943.4(AMN):c.843+10C>A
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.843+13C>G
NM_030943.4(AMN):c.843+13C>T
NM_030943.4(AMN):c.843+14G>A
NM_030943.4(AMN):c.843+15C>T
NM_030943.4(AMN):c.843+20A>G
NM_030943.4(AMN):c.843+7G>A
NM_030943.4(AMN):c.844-11C>T
NM_030943.4(AMN):c.844-13T>A
NM_030943.4(AMN):c.844-15C>T
NM_030943.4(AMN):c.844-17C>G
NM_030943.4(AMN):c.844-17C>T
NM_030943.4(AMN):c.844-18C>A
NM_030943.4(AMN):c.844-3dup
NM_030943.4(AMN):c.855C>G (p.His285Gln)
NM_030943.4(AMN):c.855C>T (p.His285=)
NM_030943.4(AMN):c.861G>C (p.Leu287=)
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
NM_030943.4(AMN):c.864G>T (p.Gln288His)
NM_030943.4(AMN):c.870C>T (p.Ala290=)
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) rs2139311797
NM_030943.4(AMN):c.888C>G (p.Arg296=)
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
NM_030943.4(AMN):c.890C>T (p.Ser297Leu)
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
NM_030943.4(AMN):c.895C>T (p.Arg299Trp)
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
NM_030943.4(AMN):c.915G>A (p.Thr305=)
NM_030943.4(AMN):c.918G>A (p.Glu306=)
NM_030943.4(AMN):c.91G>A (p.Asp31Asn)
NM_030943.4(AMN):c.921C>T (p.Ile307=)
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
NM_030943.4(AMN):c.945G>T (p.Gly315=)
NM_030943.4(AMN):c.948del (p.Glu317fs) rs2139312056
NM_030943.4(AMN):c.949G>C (p.Glu317Gln)
NM_030943.4(AMN):c.954A>C (p.Thr318=)
NM_030943.4(AMN):c.954A>G (p.Thr318=)
NM_030943.4(AMN):c.957C>A (p.Gly319=)
NM_030943.4(AMN):c.967C>A (p.Arg323=)
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
NM_030943.4(AMN):c.968_975del (p.Arg323fs)
NM_030943.4(AMN):c.96C>T (p.Val32=)
NM_030943.4(AMN):c.971T>C (p.Leu324Pro)
NM_030943.4(AMN):c.972G>A (p.Leu324=)
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.4(AMN):c.975C>T (p.Ala325=)
NM_030943.4(AMN):c.980C>T (p.Ala327Val)
NM_030943.4(AMN):c.987G>A (p.Leu329=)
NM_030943.4(AMN):c.990G>A (p.Ala330=)
NM_030943.4(AMN):c.993C>A (p.Asp331Glu)
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*2150A>G rs781473185
NM_052845.4(MMAB):c.*2326C>G rs1210681751
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*2736G>C rs747163137
NM_052845.4(MMAB):c.*3027T>C rs1883879729
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A rs1883871954
NM_052845.4(MMAB):c.*3296G>A rs777939885
NM_052845.4(MMAB):c.*348T>G rs1883987573
NM_052845.4(MMAB):c.*422T>C rs1883979155
NM_052845.4(MMAB):c.*710C>T rs538702791
NM_052845.4(MMAB):c.-11C>G rs1228106972
NM_052845.4(MMAB):c.-9G>T rs554831769
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
NM_052845.4(MMAB):c.105C>T (p.Arg35=) rs1884735595
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
NM_052845.4(MMAB):c.108C>T (p.Gly36=) rs2136213363
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
NM_052845.4(MMAB):c.116del (p.Gly39fs)
NM_052845.4(MMAB):c.126C>T (p.Asp42=) rs2136213327
NM_052845.4(MMAB):c.132C>T (p.Asp44=) rs747649185
NM_052845.4(MMAB):c.134+10T>G
NM_052845.4(MMAB):c.134+14G>A
NM_052845.4(MMAB):c.134+16del
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+20G>A
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.134+7G>A
NM_052845.4(MMAB):c.134G>A (p.Arg45Lys)
NM_052845.4(MMAB):c.135-12A>T
NM_052845.4(MMAB):c.135-19G>A
NM_052845.4(MMAB):c.135-1G>A rs1566137903
NM_052845.4(MMAB):c.135-8C>T rs2136210870
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
NM_052845.4(MMAB):c.144T>G (p.Pro48=) rs2136210832
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys) rs2136210801
NM_052845.4(MMAB):c.165C>T (p.Ile55=) rs2136210798
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.177C>T (p.Tyr59=) rs2136210789
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
NM_052845.4(MMAB):c.189A>G (p.Gly63=) rs2136210776
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
NM_052845.4(MMAB):c.196+13C>G
NM_052845.4(MMAB):c.196+17T>G
NM_052845.4(MMAB):c.196+9G>A
NM_052845.4(MMAB):c.197-12T>C
NM_052845.4(MMAB):c.197-14A>G
NM_052845.4(MMAB):c.197-15C>A
NM_052845.4(MMAB):c.197-1G>A rs763935916
NM_052845.4(MMAB):c.197-2A>G
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.197-7T>C
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.1A>C (p.Met1Leu) rs1884749143
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter) rs2136208377
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
NM_052845.4(MMAB):c.225G>A (p.Arg75=) rs267603297
NM_052845.4(MMAB):c.23del (p.Ser8fs) rs2136213668
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
NM_052845.4(MMAB):c.243A>G (p.Gln81=) rs1473011297
NM_052845.4(MMAB):c.245del (p.Val82fs)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser) rs1185132313
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu) rs2136208348
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
NM_052845.4(MMAB):c.250G>A (p.Glu84Lys)
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
NM_052845.4(MMAB):c.258G>A (p.Val86=) rs2136208331
NM_052845.4(MMAB):c.266del (p.Thr89fs)
NM_052845.4(MMAB):c.27T>C (p.Arg9=) rs1311011214
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.28C>A (p.Leu10Ile)
NM_052845.4(MMAB):c.290+12A>G
NM_052845.4(MMAB):c.290+19G>T
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.290+3A>G
NM_052845.4(MMAB):c.290+7G>C
NM_052845.4(MMAB):c.290+8G>T
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-15C>G
NM_052845.4(MMAB):c.291-16del
NM_052845.4(MMAB):c.291-18T>C
NM_052845.4(MMAB):c.291-1G>T rs199971687
NM_052845.4(MMAB):c.291-3dup rs2136203965
NM_052845.4(MMAB):c.291-5C>G
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
NM_052845.4(MMAB):c.297T>C (p.Ala99=) rs2136203950
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) rs869320655
NM_052845.4(MMAB):c.30T>C (p.Leu10=) rs757088429
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
NM_052845.4(MMAB):c.32del (p.Gly11fs)
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
NM_052845.4(MMAB):c.330del (p.Phe110fs) rs2136203888
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp) rs2136203868
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
NM_052845.4(MMAB):c.342T>A (p.Leu114=) rs2136203863
NM_052845.4(MMAB):c.348+11C>T
NM_052845.4(MMAB):c.348+20C>G
NM_052845.4(MMAB):c.348+2_348+3del rs2136203848
NM_052845.4(MMAB):c.349-14C>G
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.349-20C>T
NM_052845.4(MMAB):c.349-4C>G rs2136199982
NM_052845.4(MMAB):c.349-5C>G
NM_052845.4(MMAB):c.349-5C>T rs1228758269
NM_052845.4(MMAB):c.349-6C>T
NM_052845.4(MMAB):c.349-8C>A
NM_052845.4(MMAB):c.349-8C>G rs1468191738
NM_052845.4(MMAB):c.349-8C>T rs1468191738
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
NM_052845.4(MMAB):c.367G>A (p.Asp123Asn)
NM_052845.4(MMAB):c.367del (p.Asp123fs) rs1387128853
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.379G>A (p.Ala127Thr)
NM_052845.4(MMAB):c.37_57delinsCAA (p.Gly13_Arg19delinsGln)
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
NM_052845.4(MMAB):c.386C>T (p.Ala129Val)
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.406C>T (p.Arg136Trp)
NM_052845.4(MMAB):c.407G>A (p.Arg136Gln) rs796051994
NM_052845.4(MMAB):c.408G>A (p.Arg136=) rs760995089
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
NM_052845.4(MMAB):c.414T>G (p.Ala138=) rs2136199754
NM_052845.4(MMAB):c.417C>T (p.His139=) rs2136199746
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.421+14T>A rs760915792
NM_052845.4(MMAB):c.421+18G>C
NM_052845.4(MMAB):c.421+1G>A rs2136199734
NM_052845.4(MMAB):c.421+7C>A
NM_052845.4(MMAB):c.422-19del
NM_052845.4(MMAB):c.422-1G>A
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.422-5_422-3del rs2136199438
NM_052845.4(MMAB):c.422A>G (p.Lys141Arg)
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
NM_052845.4(MMAB):c.432G>A (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) rs921232728
NM_052845.4(MMAB):c.441G>A (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.441G>C (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter) rs2136199292
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp) rs1392513631
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter) rs2136199270
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) rs1884201610
NM_052845.4(MMAB):c.475A>C (p.Lys159Gln)
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter) rs2136199221
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe) rs1393437649
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
NM_052845.4(MMAB):c.511A>G (p.Ile171Val)
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
NM_052845.4(MMAB):c.513C>T (p.Ile171=) rs2136199131
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.519+13C>T
NM_052845.4(MMAB):c.519+16G>A
NM_052845.4(MMAB):c.519+17C>T rs1884195985
NM_052845.4(MMAB):c.519+19T>A
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.519dup (p.Ser174fs)
NM_052845.4(MMAB):c.520-15C>T
NM_052845.4(MMAB):c.520-18G>A
NM_052845.4(MMAB):c.520-19T>C
NM_052845.4(MMAB):c.520-20A>G
NM_052845.4(MMAB):c.520-4T>C
NM_052845.4(MMAB):c.52C>T (p.Leu18=) rs374802787
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
NM_052845.4(MMAB):c.542C>G (p.Ala181Gly)
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
NM_052845.4(MMAB):c.54G>A (p.Leu18=) rs1884741296
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr) rs767774574
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs) rs2136198361
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla) rs2136198351
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.564G>A (p.Val188=)
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.56_60delinsAAGGT (p.Arg19Gln)
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
NM_052845.4(MMAB):c.573G>C (p.Arg191=) rs2136198226
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.4(MMAB):c.577G>T (p.Glu193Ter)
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.579G>A (p.Glu193=) rs2136198146
NM_052845.4(MMAB):c.57C>G (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs) rs1592997663
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584+12G>A
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.584+2T>A
NM_052845.4(MMAB):c.584+2T>C
NM_052845.4(MMAB):c.584+8G>C
NM_052845.4(MMAB):c.584+9G>C
NM_052845.4(MMAB):c.585-10C>T rs375474421
NM_052845.4(MMAB):c.585-12C>T
NM_052845.4(MMAB):c.585-16T>A
NM_052845.4(MMAB):c.585-16T>C
NM_052845.4(MMAB):c.585-17G>A
NM_052845.4(MMAB):c.585-18T>C
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.585-4C>G rs2136195288
NM_052845.4(MMAB):c.585-9C>T
NM_052845.4(MMAB):c.590T>C (p.Val197Ala)
NM_052845.4(MMAB):c.591G>A (p.Val197=) rs2136195257
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
NM_052845.4(MMAB):c.599dup (p.Gln201fs)
NM_052845.4(MMAB):c.5C>T (p.Ala2Val)
NM_052845.4(MMAB):c.604A>G (p.Met202Val) rs1884098738
NM_052845.4(MMAB):c.60G>A (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.60G>T (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.615C>G (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
NM_052845.4(MMAB):c.61dup (p.Cys21fs) rs2136213505
NM_052845.4(MMAB):c.620C>A (p.Ala207Glu)
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter) rs2136195113
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
NM_052845.4(MMAB):c.644+14A>C
NM_052845.4(MMAB):c.644+17T>C
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.644+4C>G
NM_052845.4(MMAB):c.644+7dup
NM_052845.4(MMAB):c.645-16C>A
NM_052845.4(MMAB):c.645-20CT[6]
NM_052845.4(MMAB):c.645-7C>T
NM_052845.4(MMAB):c.645-8C>T
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile) rs2136192612
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs) rs2136192590
NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.666G>T (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
NM_052845.4(MMAB):c.66C>T (p.Phe22=) rs765869812
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
NM_052845.4(MMAB):c.683C>T (p.Ala228Val)
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
NM_052845.4(MMAB):c.701_702del (p.Gln234fs)
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
NM_052845.4(MMAB):c.703G>A (p.Glu235Lys)
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
NM_052845.4(MMAB):c.732G>C (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.735C>G (p.Ala245=) rs377015836
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
NM_052845.4(MMAB):c.7G>A (p.Val3Met) rs1884748119
NM_052845.4(MMAB):c.84G>A (p.Leu28=) rs747142605
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) rs2136213423
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
NM_172250.3(MMAA):c.*1149C>G rs999175069
NM_172250.3(MMAA):c.*1221A>G rs1728241243
NM_172250.3(MMAA):c.*1510C>T rs1045440002
NM_172250.3(MMAA):c.*1558C>G rs998811243
NM_172250.3(MMAA):c.*190C>T rs1728208709
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2448T>C rs914268952
NM_172250.3(MMAA):c.*2479G>T rs886059107
NM_172250.3(MMAA):c.*2646G>A rs999780084
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3213C>T rs1317371212
NM_172250.3(MMAA):c.*3385C>T rs1296968983
NM_172250.3(MMAA):c.*3797A>G rs1578891934
NM_172250.3(MMAA):c.*3880G>A rs1728325081
NM_172250.3(MMAA):c.*3934C>G rs753155141
NM_172250.3(MMAA):c.*4044T>C rs556788892
NM_172250.3(MMAA):c.*4200G>T rs1346413343
NM_172250.3(MMAA):c.*581G>T rs936007824
NM_172250.3(MMAA):c.*611A>C rs1728220748
NM_172250.3(MMAA):c.*661C>T rs1728222063
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.-5C>G
NM_172250.3(MMAA):c.-68C>A rs886059087
NM_172250.3(MMAA):c.-68C>T rs886059087
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg) rs758394680
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
NM_172250.3(MMAA):c.1005C>A (p.Ile335=) rs2126629821
NM_172250.3(MMAA):c.1023A>G (p.Lys341=) rs2126629831
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.1034T>C (p.Phe345Ser)
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
NM_172250.3(MMAA):c.1044A>C (p.Leu348=) rs754630744
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe) rs866580843
NM_172250.3(MMAA):c.1049T>A (p.Leu350His)
NM_172250.3(MMAA):c.1056T>C (p.Ser352=) rs1302017266
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1061A>G (p.Glu354Gly)
NM_172250.3(MMAA):c.1067del (p.Thr356fs)
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
NM_172250.3(MMAA):c.1095T>C (p.Val365=) rs2126629917
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1108C>T (p.Leu370Phe)
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
NM_172250.3(MMAA):c.1124del (p.Val375fs)
NM_172250.3(MMAA):c.112del (p.Ile38fs)
NM_172250.3(MMAA):c.1130del (p.Glu377fs)
NM_172250.3(MMAA):c.1131G>A (p.Glu377=) rs2126629961
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu) rs1728200540
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.1145del (p.His382fs)
NM_172250.3(MMAA):c.1146C>T (p.His382=) rs1186287486
NM_172250.3(MMAA):c.1149C>A (p.Pro383=) rs2126629982
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
NM_172250.3(MMAA):c.1170A>G (p.Pro390=) rs2126630021
NM_172250.3(MMAA):c.1179A>G (p.Glu393=) rs1578888894
NM_172250.3(MMAA):c.117A>G (p.Pro39=) rs2126617113
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val) rs1553959152
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser) rs895867414
NM_172250.3(MMAA):c.1203G>A (p.Leu401=) rs2126630061
NM_172250.3(MMAA):c.1206C>T (p.Ser402=) rs1374931888
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_172250.3(MMAA):c.1220C>T (p.Ala407Val)
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter) rs1728203978
NM_172250.3(MMAA):c.1241T>C (p.Phe414Ser)
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs) rs2126617138
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
NM_172250.3(MMAA):c.150T>C (p.His50=) rs2126617181
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
NM_172250.3(MMAA):c.15_16del (p.Pro6fs) rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.166C>T (p.Leu56=) rs2126617212
NM_172250.3(MMAA):c.168G>A (p.Leu56=) rs1396471571
NM_172250.3(MMAA):c.168G>T (p.Leu56=) rs1396471571
NM_172250.3(MMAA):c.170del (p.Leu57fs)
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.201A>G (p.Val67=)
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.204A>G (p.Gln68=) rs1727714117
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro) rs1328208245
NM_172250.3(MMAA):c.21T>C (p.His7=)
NM_172250.3(MMAA):c.222C>T (p.His74=) rs1578877626
NM_172250.3(MMAA):c.240T>C (p.Asp80=) rs2126617322
NM_172250.3(MMAA):c.246G>A (p.Glu82=) rs750230122
NM_172250.3(MMAA):c.255T>C (p.Phe85=) rs2126617358
NM_172250.3(MMAA):c.255del (p.Phe85fs)
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
NM_172250.3(MMAA):c.265C>G (p.Leu89Val)
NM_172250.3(MMAA):c.267_268del (p.Thr91fs) rs1553957906
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_172250.3(MMAA):c.281T>C (p.Ile94Thr)
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
NM_172250.3(MMAA):c.288G>A (p.Gly96=) rs559279147
NM_172250.3(MMAA):c.290_296del (p.Gln97fs) rs1553957907
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
NM_172250.3(MMAA):c.314dup (p.Thr106fs) rs1727720677
NM_172250.3(MMAA):c.320T>C (p.Leu107Pro)
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
NM_172250.3(MMAA):c.32A>G (p.His11Arg)
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
NM_172250.3(MMAA):c.335A>G (p.His112Arg) rs2126617469
NM_172250.3(MMAA):c.342G>A (p.Arg114=) rs774790573
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
NM_172250.3(MMAA):c.363G>C (p.Val121=) rs2126617517
NM_172250.3(MMAA):c.369T>G (p.Leu123=) rs1418638749
NM_172250.3(MMAA):c.36C>T (p.Phe12=) rs1661385949
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu) rs1727722684
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
NM_172250.3(MMAA):c.388del (p.His130fs)
NM_172250.3(MMAA):c.390C>T (p.His130=)
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.39A>C (p.Leu13=) rs1727705456
NM_172250.3(MMAA):c.402A>G (p.Glu134=) rs2126617588
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
NM_172250.3(MMAA):c.405del (p.Gln135fs)
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.414A>G (p.Lys138=) rs1237655127
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.439+12T>G
NM_172250.3(MMAA):c.439+14G>T
NM_172250.3(MMAA):c.439+14del
NM_172250.3(MMAA):c.439+16G>C
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+2T>A
NM_172250.3(MMAA):c.439+2T>C
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.439+9T>C
NM_172250.3(MMAA):c.440-10dup
NM_172250.3(MMAA):c.440-19A>C
NM_172250.3(MMAA):c.440-2A>G
NM_172250.3(MMAA):c.440-7A>C rs1337205137
NM_172250.3(MMAA):c.440-9C>A
NM_172250.3(MMAA):c.440G>A (p.Gly147Glu)
NM_172250.3(MMAA):c.441dup (p.Leu148fs) rs1553958126
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
NM_172250.3(MMAA):c.44_45delinsAA (p.Gly15Glu)
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.453C>G (p.Pro151=) rs879110861
NM_172250.3(MMAA):c.455del (p.Pro152fs) rs1553958127
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
NM_172250.3(MMAA):c.468dup (p.Ser157fs) rs2126619930
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
NM_172250.3(MMAA):c.488T>G (p.Phe163Cys)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
NM_172250.3(MMAA):c.513G>A (p.Gly171=) rs2126620000
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.527_528del (p.Val176fs) rs1553958158
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
NM_172250.3(MMAA):c.54del (p.Ala19fs)
NM_172250.3(MMAA):c.551G>A (p.Cys184Tyr)
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter) rs1727814966
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.562+2T>C
NM_172250.3(MMAA):c.562+4A>C rs1336573288
NM_172250.3(MMAA):c.562+7A>T rs2126620073
NM_172250.3(MMAA):c.562+8T>C
NM_172250.3(MMAA):c.562+9G>A rs2126620076
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.563-17G>A
NM_172250.3(MMAA):c.563-4T>A
NM_172250.3(MMAA):c.564A>T (p.Gly188=) rs1727918663
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) rs1553958392
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
NM_172250.3(MMAA):c.600A>G (p.Leu200=) rs2126622751
NM_172250.3(MMAA):c.600A>T (p.Leu200Phe)
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.601del (p.Ser201fs)
NM_172250.3(MMAA):c.603A>G (p.Ser201=) rs2126622760
NM_172250.3(MMAA):c.616G>A (p.Ala206Thr)
NM_172250.3(MMAA):c.618A>G (p.Ala206=) rs1727920444
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_172250.3(MMAA):c.634C>G (p.Pro212Ala)
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.639del (p.Arg214fs) rs2126622813
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_172250.3(MMAA):c.657C>A (p.Gly219=) rs1291307841
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
NM_172250.3(MMAA):c.659T>C (p.Val220Ala) rs941689476
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu) rs375682603
NM_172250.3(MMAA):c.663A>G (p.Thr221=) rs2126622855
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg) rs2126622891
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter) rs1727922828
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
NM_172250.3(MMAA):c.718C>G (p.Leu240Val) rs752844506
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe) rs756221585
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn) rs1553958417
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
NM_172250.3(MMAA):c.730G>T (p.Val244Phe) rs771044996
NM_172250.3(MMAA):c.733+12A>G
NM_172250.3(MMAA):c.733+16T>G
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.733+9G>A
NM_172250.3(MMAA):c.734-13T>C
NM_172250.3(MMAA):c.734-15G>A
NM_172250.3(MMAA):c.734-20G>A
NM_172250.3(MMAA):c.734-9C>A rs756275016
NM_172250.3(MMAA):c.734-9C>T rs756275016
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
NM_172250.3(MMAA):c.762T>C (p.Ala254=) rs1033389087
NM_172250.3(MMAA):c.762dup (p.Asp255Ter) rs1728076151
NM_172250.3(MMAA):c.771T>C (p.Val257=) rs2126627142
NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.776T>C (p.Met259Thr) rs1328403056
NM_172250.3(MMAA):c.780del (p.Phe260fs)
NM_172250.3(MMAA):c.783T>A (p.Val261=) rs2126627167
NM_172250.3(MMAA):c.783T>G (p.Val261=)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
NM_172250.3(MMAA):c.78C>T (p.Phe26=) rs2126617065
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs) rs2126627182
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.816G>A (p.Leu272=) rs1728078075
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
NM_172250.3(MMAA):c.819+11T>G
NM_172250.3(MMAA):c.819+13del
NM_172250.3(MMAA):c.819+19dup
NM_172250.3(MMAA):c.819+8T>C
NM_172250.3(MMAA):c.81C>T (p.Ile27=) rs2126617076
NM_172250.3(MMAA):c.820-10A>C rs2126629035
NM_172250.3(MMAA):c.820-13C>G
NM_172250.3(MMAA):c.820-15T>G
NM_172250.3(MMAA):c.820-1G>A rs1553959017
NM_172250.3(MMAA):c.820-1G>C rs1553959017
NM_172250.3(MMAA):c.820-2A>G
NM_172250.3(MMAA):c.820-7T>C
NM_172250.3(MMAA):c.820-8C>G rs1728162232
NM_172250.3(MMAA):c.820G>C (p.Gly274Arg)
NM_172250.3(MMAA):c.821del
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
NM_172250.3(MMAA):c.836_837del (p.Ile279fs)
NM_172250.3(MMAA):c.845T>C (p.Met282Thr)
NM_172250.3(MMAA):c.851del (p.Asp284fs)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.856G>C (p.Val286Leu)
NM_172250.3(MMAA):c.858A>G (p.Val286=) rs142063642
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp) rs1553959024
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
NM_172250.3(MMAA):c.875A>T (p.Asp292Val) rs1553959025
NM_172250.3(MMAA):c.877G>A (p.Gly293Arg)
NM_172250.3(MMAA):c.885G>A (p.Leu295=) rs2126629113
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter) rs1340736923
NM_172250.3(MMAA):c.904A>G (p.Ile302Val)
NM_172250.3(MMAA):c.911C>T (p.Ala304Val)
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
NM_172250.3(MMAA):c.924T>C (p.Ser308=) rs2126629166
NM_172250.3(MMAA):c.928C>G (p.Leu310Val) rs1728166357
NM_172250.3(MMAA):c.933A>G (p.Lys311=) rs2126629176
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
NM_172250.3(MMAA):c.940del (p.Arg314fs)
NM_172250.3(MMAA):c.942C>A (p.Arg314=) rs773218154
NM_172250.3(MMAA):c.946C>T (p.Arg316Cys)
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131
NM_172250.3(MMAA):c.957C>T (p.Val319=)
NM_172250.3(MMAA):c.963_969+4del
NM_172250.3(MMAA):c.969+10C>T rs1728168081
NM_172250.3(MMAA):c.969+15A>C
NM_172250.3(MMAA):c.969+15A>G
NM_172250.3(MMAA):c.969+18C>T
NM_172250.3(MMAA):c.969+20G>T
NM_172250.3(MMAA):c.969+9G>A rs1007611523
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
NM_172250.3(MMAA):c.970-19G>T
NM_172250.3(MMAA):c.970-2A>T rs1553959113
NM_172250.3(MMAA):c.970-3T>C
NM_172250.3(MMAA):c.970-3dup
NM_172250.3(MMAA):c.970-4A>T rs1728189053
NM_172250.3(MMAA):c.970-5G>T
NM_172250.3(MMAA):c.970G>A (p.Val324Ile) rs1010220185
NM_172250.3(MMAA):c.972A>G (p.Val324=) rs2126629778
NM_172250.3(MMAA):c.988del (p.Arg330fs)
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
NM_172250.3(MMAA):c.99T>C (p.His33=) rs2126617089
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
NM_207346.3(TSEN54):c.953del (p.Pro318fs)

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