ClinVar Miner

List of variants studied for homocystinuria by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5666
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NC_000021.9:g.43076866C>G rs2850144 0.88000
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_005957.5(MTHFR):c.*372A>C rs4846049 0.62993
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
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_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
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_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_005957.5(MTHFR):c.1632+35G>A rs1476413 0.22803
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_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
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_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_005957.5(MTHFR):c.587-1332C>T rs17421511 0.12385
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_005957.5(MTHFR):c.117C>T (p.Pro39=) rs2066470 0.09092
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_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
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_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NC_000001.11:g.11806126C>T rs13306560 0.03691
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_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
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_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
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_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
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_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
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_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
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_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
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_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
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_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_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
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_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 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_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) rs139645527 0.00242
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) rs45546035 0.00215
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) rs146071220 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_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_005957.5(MTHFR):c.1347+20G>A rs201780607 0.00131
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_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) rs2066466 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
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_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 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_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 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_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_005957.5(MTHFR):c.1941C>A (p.Thr647=) rs139586522 0.00076
NM_005957.5(MTHFR):c.788A>C (p.His263Pro) rs142612062 0.00076
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 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_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_000071.3(CBS):c.1125C>T (p.Pro375=) rs146180894 0.00067
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
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_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
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_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_002454.3(MTRR):c.1058-16G>A rs201644712 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_000071.3(CBS):c.531+19G>A rs950515567 0.00051
NM_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 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_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_005050.4(ABCD4):c.425+13A>G rs370752716 0.00046
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
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_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
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_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_000071.3(CBS):c.1380G>A (p.Thr460=) rs765134080 0.00038
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 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_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801 0.00037
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000071.3(CBS):c.1223+13G>A rs533660793 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_000254.3(MTR):c.1953+6G>C rs147410975 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_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00031
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_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000071.3(CBS):c.600G>A (p.Pro200=) rs181472622 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_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
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_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
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_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000071.3(CBS):c.829-11G>T rs371619788 0.00025
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
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_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_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 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_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
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_005334.3(HCFC1):c.4942+8C>T rs1013019333 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_000071.3(CBS):c.339C>T (p.Asn113=) rs140879135 0.00019
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) rs546530618 0.00019
NM_000254.3(MTR):c.1075+7C>T rs202157685 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_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val) rs145544233 0.00019
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 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_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) rs368735885 0.00018
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_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_000071.3(CBS):c.1644G>C (p.Arg548=) rs143945898 0.00016
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_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_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
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_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_000071.3(CBS):c.317-16C>G rs746289953 0.00014
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_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_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=) rs146554888 0.00014
NM_005957.5(MTHFR):c.781-12T>C rs376833963 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 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_000071.3(CBS):c.1039+20G>A rs548871653 0.00013
NM_000071.3(CBS):c.1041T>A (p.Gly347=) rs573954005 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000071.3(CBS):c.133C>T (p.Arg45Trp) rs201372812 0.00013
NM_000071.3(CBS):c.1341C>T (p.Pro447=) rs371493662 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000071.3(CBS):c.474G>A (p.Ala158=) rs189362155 0.00013
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
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_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.10-9C>G rs376032730 0.00013
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) rs140727621 0.00013
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp) rs766444814 0.00012
NM_000071.3(CBS):c.828+16G>A rs527276612 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 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_000071.3(CBS):c.221C>T (p.Pro74Leu) rs762862715 0.00011
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_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_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_005957.5(MTHFR):c.400C>T (p.Arg134Cys) rs45550133 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 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_018368.4(LMBRD1):c.1189-15C>G rs774156278 0.00011
NM_000071.3(CBS):c.1146-12C>T rs199550738 0.00010
NM_000071.3(CBS):c.1223+5G>A rs372609349 0.00010
NM_000071.3(CBS):c.151A>C (p.Arg51=) rs754759237 0.00010
NM_000071.3(CBS):c.1524C>T (p.Phe508=) rs748610628 0.00010
NM_000071.3(CBS):c.1575T>C (p.Ser525=) rs150037641 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn) rs773734233 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
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_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_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005957.5(MTHFR):c.907G>A (p.Val303Met) rs143466425 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_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00010
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_000071.3(CBS):c.404C>T (p.Thr135Met) rs144832032 0.00009
NM_000071.3(CBS):c.532-17C>T rs534994500 0.00009
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_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_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_005957.5(MTHFR):c.1333C>T (p.Arg445Trp) rs138469955 0.00009
NM_005957.5(MTHFR):c.1734C>G (p.Val578=) rs145052308 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_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874 0.00009
NM_018368.4(LMBRD1):c.405+8T>C rs375415974 0.00009
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000071.3(CBS):c.134G>A (p.Arg45Gln) rs759502207 0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) rs147474549 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000071.3(CBS):c.955-19G>A rs780694307 0.00008
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 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_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_005957.5(MTHFR):c.1155T>C (p.Pro385=) rs113989925 0.00008
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 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_000071.3(CBS):c.1338G>A (p.Ala446=) rs373962057 0.00007
NM_000071.3(CBS):c.345C>T (p.Gly115=) rs374438247 0.00007
NM_000071.3(CBS):c.888G>A (p.Thr296=) rs769593715 0.00007
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_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_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_005957.5(MTHFR):c.885C>G (p.Arg295=) rs371474040 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_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_000071.3(CBS):c.1039+3G>A rs747384273 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met) rs752596508 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1413G>C (p.Gly471=) rs777859460 0.00006
NM_000071.3(CBS):c.1425G>A (p.Pro475=) rs147885808 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr) rs1060500680 0.00006
NM_000071.3(CBS):c.1626C>T (p.Phe542=) rs758818777 0.00006
NM_000071.3(CBS):c.352G>A (p.Val118Met) rs763385546 0.00006
NM_000071.3(CBS):c.452-12G>T rs780064320 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg) rs763151207 0.00006
NM_000071.3(CBS):c.69G>A (p.Ser23=) rs769704501 0.00006
NM_000071.3(CBS):c.737-10C>T rs546751042 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000071.3(CBS):c.828+20C>T rs771093015 0.00006
NM_000071.3(CBS):c.954+7C>T rs554429567 0.00006
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_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_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_005957.5(MTHFR):c.1146C>T (p.Asp382=) rs761540678 0.00006
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 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.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_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_000071.3(CBS):c.1074G>A (p.Val358=) rs570135008 0.00005
NM_000071.3(CBS):c.1468-6T>G rs771250766 0.00005
NM_000071.3(CBS):c.1494G>A (p.Arg498=) rs778800147 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000071.3(CBS):c.663C>T (p.Asp221=) rs753964840 0.00005
NM_000071.3(CBS):c.774C>T (p.Gly258=) rs764925747 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
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_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_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=) rs200180238 0.00005
NM_005957.5(MTHFR):c.1491C>T (p.Ile497=) rs143480693 0.00005
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 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_000071.3(CBS):c.1145+10G>A rs150863939 0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000071.3(CBS):c.175C>T (p.Pro59Ser) rs376496085 0.00004
NM_000071.3(CBS):c.18C>T (p.Pro6=) rs777370660 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.342G>A (p.Ala114=) rs145338910 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000071.3(CBS):c.501C>T (p.Ile167=) rs754246295 0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val) rs759682004 0.00004
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_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.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.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.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_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_005957.5(MTHFR):c.1065C>A (p.Pro355=) rs1156478570 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His) rs750323424 0.00004
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=) rs767306503 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_005957.5(MTHFR):c.1722A>T (p.Val574=) rs936532190 0.00004
NM_005957.5(MTHFR):c.336C>T (p.Ile112=) rs777803896 0.00004
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys) rs1018203291 0.00004
NM_005957.5(MTHFR):c.681G>A (p.Thr227=) rs774825800 0.00004
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 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_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.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_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1040-16G>A rs755940179 0.00003
NM_000071.3(CBS):c.1040-6C>G rs767372401 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.1083G>A (p.Ala361=) rs781323559 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.1146-4G>A rs778414187 0.00003
NM_000071.3(CBS):c.1146-7C>T rs376749931 0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) rs371214833 0.00003
NM_000071.3(CBS):c.1224-14C>T rs756737169 0.00003
NM_000071.3(CBS):c.1224-5C>T rs370071493 0.00003
NM_000071.3(CBS):c.1272C>T (p.Thr424=) rs141717913 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1287C>T (p.Ile429=) rs770442169 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.1326C>G (p.Gly442=) rs750627927 0.00003
NM_000071.3(CBS):c.1356G>A (p.Ala452=) rs776322450 0.00003
NM_000071.3(CBS):c.1359-18C>T rs770172764 0.00003
NM_000071.3(CBS):c.1359-9G>A rs202137317 0.00003
NM_000071.3(CBS):c.1410C>T (p.Ala470=) rs773019624 0.00003
NM_000071.3(CBS):c.1464A>G (p.Lys488=) rs771312041 0.00003
NM_000071.3(CBS):c.147G>A (p.Pro49=) rs771719483 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.1485G>A (p.Thr495=) rs369903148 0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys) rs370983323 0.00003
NM_000071.3(CBS):c.1563C>T (p.Thr521=) rs773052594 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.209C>T (p.Pro70Leu) rs2229413 0.00003
NM_000071.3(CBS):c.210-16G>T rs183972299 0.00003
NM_000071.3(CBS):c.296T>C (p.Phe99Ser) rs112029370 0.00003
NM_000071.3(CBS):c.2T>C (p.Met1Thr) rs769766030 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.396C>T (p.Arg132=) rs754758476 0.00003
NM_000071.3(CBS):c.412C>T (p.Pro138Ser) rs765702034 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000071.3(CBS):c.429C>T (p.Ile143=) rs370167302 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000071.3(CBS):c.456C>T (p.Ile152=) rs769438280 0.00003
NM_000071.3(CBS):c.525C>T (p.Ser175=) rs767850964 0.00003
NM_000071.3(CBS):c.537C>T (p.Asp179=) rs769712423 0.00003
NM_000071.3(CBS):c.538G>A (p.Val180Met) rs759402521 0.00003
NM_000071.3(CBS):c.588G>C (p.Arg196Ser) rs555751528 0.00003
NM_000071.3(CBS):c.609C>T (p.His203=) rs142313595 0.00003
NM_000071.3(CBS):c.615G>C (p.Gly205=) rs773114442 0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met) rs369220569 0.00003
NM_000071.3(CBS):c.708C>T (p.Thr236=) rs748495689 0.00003
NM_000071.3(CBS):c.717G>A (p.Glu239=) rs372797469 0.00003
NM_000071.3(CBS):c.737-1G>C rs757428597 0.00003
NM_000071.3(CBS):c.737-9G>A rs781068454 0.00003
NM_000071.3(CBS):c.771G>A (p.Thr257=) rs375004389 0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser) rs143124288 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000071.3(CBS):c.903C>T (p.Tyr301=) rs746575551 0.00003
NM_000071.3(CBS):c.918C>T (p.Ile306=) rs201950895 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
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_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_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_005957.5(MTHFR):c.1068G>A (p.Lys356=) rs749442724 0.00003
NM_005957.5(MTHFR):c.1368C>T (p.Asn456=) rs201105692 0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_005957.5(MTHFR):c.1411C>T (p.Leu471=) rs370996045 0.00003
NM_005957.5(MTHFR):c.1467C>T (p.Asn489=) rs374026519 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) rs45590836 0.00003
NM_005957.5(MTHFR):c.1752+11C>T rs45598534 0.00003
NM_005957.5(MTHFR):c.18A>G (p.Arg6=) rs748686763 0.00003
NM_005957.5(MTHFR):c.237-9C>T rs765794234 0.00003
NM_005957.5(MTHFR):c.756C>T (p.Ile252=) rs1379249594 0.00003
NM_005957.5(MTHFR):c.783C>G (p.Gly261=) rs960207316 0.00003
NM_005957.5(MTHFR):c.819G>A (p.Lys273=) rs757497217 0.00003
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu) rs139786244 0.00003
NM_005957.5(MTHFR):c.918C>T (p.Cys306=) rs45498098 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_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_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.1040-7T>C rs750399521 0.00002
NM_000071.3(CBS):c.1209G>A (p.Thr403=) rs199967147 0.00002
NM_000071.3(CBS):c.1251G>A (p.Leu417=) rs764079534 0.00002
NM_000071.3(CBS):c.1337C>T (p.Ala446Val) rs757347527 0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met) rs865989946 0.00002
NM_000071.3(CBS):c.1359-10C>T rs781475420 0.00002
NM_000071.3(CBS):c.1467+10C>T rs778008141 0.00002
NM_000071.3(CBS):c.1593C>T (p.Phe531=) rs768230991 0.00002
NM_000071.3(CBS):c.1605C>T (p.Thr535=) rs769221457 0.00002
NM_000071.3(CBS):c.183C>T (p.Ser61=) rs753906914 0.00002
NM_000071.3(CBS):c.297C>T (p.Phe99=) rs749697783 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.351C>T (p.Ser117=) rs769149281 0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys) rs775992753 0.00002
NM_000071.3(CBS):c.381T>A (p.Ile127=) rs199824647 0.00002
NM_000071.3(CBS):c.384G>A (p.Glu128=) rs374593242 0.00002
NM_000071.3(CBS):c.405G>A (p.Thr135=) rs940663649 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000071.3(CBS):c.441C>T (p.Ser147=) rs367669819 0.00002
NM_000071.3(CBS):c.451+19G>T rs765760722 0.00002
NM_000071.3(CBS):c.51C>T (p.His17=) rs762239336 0.00002
NM_000071.3(CBS):c.532-13T>C rs757869040 0.00002
NM_000071.3(CBS):c.545G>A (p.Arg182Gln) rs138314784 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000071.3(CBS):c.637G>A (p.Glu213Lys) rs758703098 0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs) rs775351239 0.00002
NM_000071.3(CBS):c.720C>A (p.Ile240=) rs769024492 0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=) rs147875876 0.00002
NM_000071.3(CBS):c.925G>A (p.Asp309Asn) rs540013184 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000071.3(CBS):c.981C>T (p.Asn327=) rs777898632 0.00002
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_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.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_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 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.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_005957.5(MTHFR):c.1011G>A (p.Gly337=) rs755483936 0.00002
NM_005957.5(MTHFR):c.1482C>T (p.Ser494=) rs765736104 0.00002
NM_005957.5(MTHFR):c.1752+12G>A rs541364916 0.00002
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_005957.5(MTHFR):c.1770G>A (p.Leu590=) rs554668389 0.00002
NM_005957.5(MTHFR):c.1857C>T (p.Val619=) rs572292225 0.00002
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys) rs200947520 0.00002
NM_005957.5(MTHFR):c.236+8C>T rs778531212 0.00002
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) rs781158269 0.00002
NM_005957.5(MTHFR):c.376C>T (p.Leu126=) rs775190597 0.00002
NM_005957.5(MTHFR):c.453G>A (p.Lys151=) rs750818024 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) rs765834557 0.00002
NM_005957.5(MTHFR):c.606C>T (p.Pro202=) rs13306554 0.00002
NM_005957.5(MTHFR):c.813G>A (p.Leu271=) rs781214043 0.00002
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 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_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 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_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_000071.3(CBS):c.1005C>T (p.Ala335=) rs753731849 0.00001
NM_000071.3(CBS):c.1007G>A (p.Arg336His) rs760417941 0.00001
NM_000071.3(CBS):c.1019C>T (p.Ala340Val) rs1282760211 0.00001
NM_000071.3(CBS):c.1020G>A (p.Ala340=) rs768294788 0.00001
NM_000071.3(CBS):c.1029G>C (p.Gly343=) rs1332776421 0.00001
NM_000071.3(CBS):c.1035G>T (p.Leu345=) rs746340769 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly) rs863223437 0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr) rs757920190 0.00001
NM_000071.3(CBS):c.1110C>T (p.Cys370=) rs752404089 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) rs763036586 0.00001
NM_000071.3(CBS):c.1145+9C>T rs745997797 0.00001
NM_000071.3(CBS):c.1146-5C>T rs941685349 0.00001
NM_000071.3(CBS):c.1155C>T (p.Phe385=) rs754691256 0.00001
NM_000071.3(CBS):c.1224-6C>T rs755369737 0.00001
NM_000071.3(CBS):c.126G>C (p.Leu42=) rs752812436 0.00001
NM_000071.3(CBS):c.1299C>T (p.His433=) rs1188405012 0.00001
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp) rs1324151005 0.00001
NM_000071.3(CBS):c.1329C>T (p.Phe443=) rs747186128 0.00001
NM_000071.3(CBS):c.1332C>T (p.Asp444=) rs1060503998 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.1398G>A (p.Ser466=) rs766199408 0.00001
NM_000071.3(CBS):c.144T>G (p.Ala48=) rs770839773 0.00001
NM_000071.3(CBS):c.1452C>T (p.Tyr484=) rs776806222 0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met) rs996249907 0.00001
NM_000071.3(CBS):c.1497C>G (p.Leu499=) rs1477206467 0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=) rs750311684 0.00001
NM_000071.3(CBS):c.1553-13G>A rs766380369 0.00001
NM_000071.3(CBS):c.15C>T (p.Thr5=) rs137920248 0.00001
NM_000071.3(CBS):c.1600G>A (p.Val534Ile) rs779569366 0.00001
NM_000071.3(CBS):c.168G>A (p.Leu56=) rs752055364 0.00001
NM_000071.3(CBS):c.172C>T (p.Arg58Trp) rs555959266 0.00001
NM_000071.3(CBS):c.180C>T (p.Ala60=) rs755282601 0.00001
NM_000071.3(CBS):c.210-3C>T rs562656023 0.00001
NM_000071.3(CBS):c.28del (p.Val10fs) rs779250698 0.00001
NM_000071.3(CBS):c.34C>T (p.Pro12Ser) rs558259739 0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp) rs886057100 0.00001
NM_000071.3(CBS):c.390T>C (p.Ala130=) rs758553912 0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His) rs779011920 0.00001
NM_000071.3(CBS):c.399C>T (p.Asp133=) rs200362321 0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala) rs766958673 0.00001
NM_000071.3(CBS):c.422C>T (p.Thr141Met) rs771178320 0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg) rs755952006 0.00001
NM_000071.3(CBS):c.447C>T (p.Asn149=) rs1457546374 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.473C>T (p.Ala158Val) rs1376851289 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 0.00001
NM_000071.3(CBS):c.505A>T (p.Met169Leu) rs1371228792 0.00001
NM_000071.3(CBS):c.532-8T>C rs775695225 0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val) rs374464810 0.00001
NM_000071.3(CBS):c.564T>C (p.Ile188=) rs771803581 0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg) rs201118737 0.00001
NM_000071.3(CBS):c.666+10C>A rs773040114 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000071.3(CBS):c.687C>T (p.Pro229=) rs769298649 0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu) rs775785018 0.00001
NM_000071.3(CBS):c.72G>A (p.Ala24=) rs145466242 0.00001
NM_000071.3(CBS):c.736+1G>A rs1166621523 0.00001
NM_000071.3(CBS):c.736+4C>T rs756191746 0.00001
NM_000071.3(CBS):c.736+5G>A rs750518463 0.00001
NM_000071.3(CBS):c.736+6T>C rs201727754 0.00001
NM_000071.3(CBS):c.736+7C>T rs757332652 0.00001
NM_000071.3(CBS):c.737-11C>T rs769967427 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000071.3(CBS):c.79_81dup (p.Ser27dup) rs754535608 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000071.3(CBS):c.829-3C>T rs780624117 0.00001
NM_000071.3(CBS):c.840G>A (p.Val280=) rs1060500682 0.00001
NM_000071.3(CBS):c.870G>A (p.Pro290=) rs773580068 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000071.3(CBS):c.984T>C (p.Asp328=) rs752829651 0.00001
NM_000071.3(CBS):c.993G>A (p.Ala331=) rs759398443 0.00001
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.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_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.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.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.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_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.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.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_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) rs368321176 0.00001
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 0.00001
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) rs762663885 0.00001
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) rs753278299 0.00001
NM_005957.5(MTHFR):c.1062C>T (p.His354=) rs776606131 0.00001
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys) rs779993607 0.00001
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=) rs764444752 0.00001
NM_005957.5(MTHFR):c.1167-2del rs780014899 0.00001
NM_005957.5(MTHFR):c.1182C>A (p.Ser394=) rs1394785767 0.00001
NM_005957.5(MTHFR):c.1230C>T (p.Ser410=) rs748977409 0.00001
NM_005957.5(MTHFR):c.123G>T (p.Arg41=) rs1465286858 0.00001
NM_005957.5(MTHFR):c.1251G>A (p.Leu417=) rs1448262865 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1304_1305del (p.Phe435fs) rs756018487 0.00001
NM_005957.5(MTHFR):c.1308T>C (p.Val436=) rs373524607 0.00001
NM_005957.5(MTHFR):c.1348-11G>A rs201696223 0.00001
NM_005957.5(MTHFR):c.1356C>T (p.Cys452=) rs1379967274 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1383G>A (p.Ala461=) rs199517455 0.00001
NM_005957.5(MTHFR):c.1449C>T (p.Asn483=) rs1644188320 0.00001
NM_005957.5(MTHFR):c.1531-5C>T rs563840479 0.00001
NM_005957.5(MTHFR):c.1531-9C>G rs1433996363 0.00001
NM_005957.5(MTHFR):c.1539A>G (p.Leu513=) rs1454380592 0.00001
NM_005957.5(MTHFR):c.1566G>A (p.Ala522=) rs539932473 0.00001
NM_005957.5(MTHFR):c.157T>C (p.Leu53=) rs1205350004 0.00001
NM_005957.5(MTHFR):c.1596C>T (p.Tyr532=) rs776430173 0.00001
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) rs779726227 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.1633-8C>A rs1347437811 0.00001
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) rs764655005 0.00001
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448 0.00001
NM_005957.5(MTHFR):c.1668G>A (p.Pro556=) rs778486116 0.00001
NM_005957.5(MTHFR):c.1731C>T (p.Pro577=) rs926145376 0.00001
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter) rs1314085200 0.00001
NM_005957.5(MTHFR):c.1753-18G>A rs777661576 0.00001
NM_005957.5(MTHFR):c.1755C>T (p.Asp585=) rs375119199 0.00001
NM_005957.5(MTHFR):c.1779G>A (p.Glu593=) rs372169679 0.00001
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys) rs767789270 0.00001
NM_005957.5(MTHFR):c.1812G>A (p.Pro604=) rs1407988165 0.00001
NM_005957.5(MTHFR):c.1839C>T (p.His613=) rs199730437 0.00001
NM_005957.5(MTHFR):c.1887C>T (p.Asp629=) rs780005836 0.00001
NM_005957.5(MTHFR):c.1968A>G (p.Pro656=) rs774321998 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005957.5(MTHFR):c.198T>A (p.Pro66=) rs1300486433 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.237-10C>T rs367693626 0.00001
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr) rs1426036757 0.00001
NM_005957.5(MTHFR):c.282C>T (p.Thr94=) rs143347952 0.00001
NM_005957.5(MTHFR):c.294A>T (p.Ala98=) rs1265447449 0.00001
NM_005957.5(MTHFR):c.321C>T (p.Thr107=) rs769916813 0.00001
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.423T>C (p.His141=) rs1339869041 0.00001
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp) rs776195746 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 0.00001
NM_005957.5(MTHFR):c.534G>A (p.Leu178=) rs746368113 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.654G>A (p.Val218=) rs756691180 0.00001
NM_005957.5(MTHFR):c.660G>A (p.Ala220=) rs141060174 0.00001
NM_005957.5(MTHFR):c.666C>T (p.Ala222=) rs776956662 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.69T>C (p.Ser23=) rs757868254 0.00001
NM_005957.5(MTHFR):c.735C>T (p.Asp245=) rs941214983 0.00001
NM_005957.5(MTHFR):c.765G>A (p.Gly255=) rs770611205 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005957.5(MTHFR):c.789C>T (p.His263=) rs774637461 0.00001
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln) rs571238208 0.00001
NM_005957.5(MTHFR):c.846C>T (p.Asp282=) rs1451895576 0.00001
NM_005957.5(MTHFR):c.957C>T (p.His319=) rs763699944 0.00001
NM_005957.5(MTHFR):c.966C>T (p.Thr322=) rs138748774 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.969C>T (p.Leu323=) rs769659626 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_005957.5(MTHFR):c.997C>T (p.Leu333=) rs1318966127 0.00001
NM_005957.5(MTHFR):c.9C>T (p.Asn3=) rs773463208 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.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.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_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.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.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_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.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.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
NC_000001.10:g.(?_11850365)_(11851393_?)del
NC_000001.10:g.(?_11850365)_(11852446_?)del
NC_000001.10:g.(?_11850365)_(11856466_?)del
NC_000001.10:g.(?_11850737)_(11863214_?)del
NC_000001.10:g.(?_11850934)_(11852658_?)del
NC_000001.10:g.(?_11852300)_(11854940_?)del
NC_000001.10:g.(?_11853954)_(11856466_?)del
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_000001.11:g.11796400del
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_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_000014.8:g.(?_74766231)_(74769615_?)del
NC_000021.8:g.(?_43160998)_(47865240_?)del
NC_000021.8:g.(?_44472301)_(44497040_?)dup
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44473450)_(44492323_?)dup
NC_000021.8:g.(?_44473970)_(44492323_?)dup
NC_000021.8:g.(?_44473990)_(44474113_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.8:g.(?_44478245)_(44485815_?)del
NC_000021.8:g.(?_44479024)_(44485181_?)del
NC_000021.8:g.(?_44479686)_(44483266_?)del
NC_000021.8:g.(?_44480531)_(44482525_?)del
NC_000021.8:g.(?_44485540)_(44485959_?)dup
NC_000021.8:g.(?_44486453)_(44486477_?)del
NC_000021.8:g.(?_44488599)_(44492323_?)del
NC_000021.8:g.(?_44492075)_(44492303_?)del
NC_000021.8:g.(?_44492085)_(44496976_?)del
NC_000021.9:g.(?_43053340)_(43056907_?)del
NC_000021.9:g.(?_43053340)_(43076866_?)dup
NC_000021.9:g.(?_43058125)_(43065715_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NC_000021.9:g.43063088_43063089insTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGG
NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC
NC_000021.9:g.43063090_43063091insGGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063090_43063091insTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063091_43063092insAGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGC
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCCCCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGCTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys) rs1064793703
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1008C>A (p.Arg336=)
NM_000071.3(CBS):c.1008C>T (p.Arg336=)
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1014G>A (p.Leu338=) rs761405806
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1020G>T (p.Ala340=)
NM_000071.3(CBS):c.102G>A (p.Glu34=)
NM_000071.3(CBS):c.1035G>A (p.Leu345=) rs746340769
NM_000071.3(CBS):c.1039+10T>C rs1343344368
NM_000071.3(CBS):c.1039+13C>A
NM_000071.3(CBS):c.1039+13C>T
NM_000071.3(CBS):c.1039+14G>A
NM_000071.3(CBS):c.1039+19C>A
NM_000071.3(CBS):c.1039+19C>G
NM_000071.3(CBS):c.1039+20G>T
NM_000071.3(CBS):c.1039+5G>C rs777956934
NM_000071.3(CBS):c.1039+6T>G rs1601349690
NM_000071.3(CBS):c.1039+7G>A
NM_000071.3(CBS):c.1039+7G>C rs2146362915
NM_000071.3(CBS):c.1039+9G>A
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
NM_000071.3(CBS):c.1040-10C>T rs1601344657
NM_000071.3(CBS):c.1040-10CT[2]
NM_000071.3(CBS):c.1040-13G>A
NM_000071.3(CBS):c.1040-15_1040-13del
NM_000071.3(CBS):c.1040-17C>T
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
NM_000071.3(CBS):c.1041T>C (p.Gly347=) rs573954005
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.1065G>C (p.Ala355=) rs748552493
NM_000071.3(CBS):c.106A>G (p.Lys36Glu) rs904453895
NM_000071.3(CBS):c.1071C>G (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1074G>C (p.Val358=) rs570135008
NM_000071.3(CBS):c.1076A>T (p.Lys359Met) rs779940364
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000071.3(CBS):c.1087del (p.Glu363fs) rs1064794540
NM_000071.3(CBS):c.1089G>A (p.Glu363=) rs1601343953
NM_000071.3(CBS):c.1090C>T (p.Leu364=)
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup) rs2146352325
NM_000071.3(CBS):c.1098G>A (p.Glu366=) rs1601343873
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1113G>A (p.Val371=)
NM_000071.3(CBS):c.1114G>A (p.Val372Ile) rs775354680
NM_000071.3(CBS):c.1116C>G (p.Val372=)
NM_000071.3(CBS):c.1125C>G (p.Pro375=) rs146180894
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn) rs1170128038
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1141T>C (p.Tyr381His) rs267606145
NM_000071.3(CBS):c.1145+10G>C
NM_000071.3(CBS):c.1145+12C>T
NM_000071.3(CBS):c.1145+16C>T
NM_000071.3(CBS):c.1145+17C>G
NM_000071.3(CBS):c.1145+17C>T
NM_000071.3(CBS):c.1145+19C>T
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1145+8dup
NM_000071.3(CBS):c.1145+9C>A
NM_000071.3(CBS):c.1146-10C>G rs1379534542
NM_000071.3(CBS):c.1146-10C>T
NM_000071.3(CBS):c.1146-11C>T
NM_000071.3(CBS):c.1146-13C>T
NM_000071.3(CBS):c.1146-19T>G
NM_000071.3(CBS):c.1146-20G>A rs1057522600
NM_000071.3(CBS):c.1146-3C>T rs2146344469
NM_000071.3(CBS):c.1146-4G>C
NM_000071.3(CBS):c.1146-4G>T
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile) rs1568924550
NM_000071.3(CBS):c.1149C>T (p.Thr383=) rs2146344423
NM_000071.3(CBS):c.114C>G (p.Ala38=) rs2146428122
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) rs121964967
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
NM_000071.3(CBS):c.1164C>T (p.Asp388=) rs2146344263
NM_000071.3(CBS):c.1165A>C (p.Arg389=) rs1601339535
NM_000071.3(CBS):c.1169G>A (p.Trp390Ter) rs2146344203
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
NM_000071.3(CBS):c.1179G>T (p.Gln393His) rs2146344173
NM_000071.3(CBS):c.117G>A (p.Lys39=) rs2146428109
NM_000071.3(CBS):c.1182G>A (p.Lys394=)
NM_000071.3(CBS):c.1188T>C (p.Phe396=)
NM_000071.3(CBS):c.118del (p.Glu40fs)
NM_000071.3(CBS):c.1191G>T (p.Leu397=)
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
NM_000071.3(CBS):c.1200G>A (p.Glu400=)
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys) rs886042297
NM_000071.3(CBS):c.1208C>T (p.Thr403Met) rs886042297
NM_000071.3(CBS):c.1210_1212del (p.Glu404del) rs1555872822
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln) rs570121873
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1221C>G (p.Pro407=)
NM_000071.3(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.3(CBS):c.1223+10C>T
NM_000071.3(CBS):c.1223+123_1224-87del rs1416544817
NM_000071.3(CBS):c.1223+13G>T
NM_000071.3(CBS):c.1223+16C>T
NM_000071.3(CBS):c.1223+17G>A
NM_000071.3(CBS):c.1223+19A>G rs2146343442
NM_000071.3(CBS):c.1223+1G>T rs1601339216
NM_000071.3(CBS):c.1223+7C>T rs2146343623
NM_000071.3(CBS):c.1223+8C>A rs747888658
NM_000071.3(CBS):c.1223+8C>T rs747888658
NM_000071.3(CBS):c.1223+9G>A rs1000757478
NM_000071.3(CBS):c.1224-12C>T rs779601404
NM_000071.3(CBS):c.1224-13C>T
NM_000071.3(CBS):c.1224-14C>G
NM_000071.3(CBS):c.1224-20G>A
NM_000071.3(CBS):c.1224-20G>T
NM_000071.3(CBS):c.1224-7C>T
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter) rs376916741
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter) rs1332950288
NM_000071.3(CBS):c.1233C>T (p.His411=) rs2146342075
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys) rs767595472
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
NM_000071.3(CBS):c.1239T>A (p.Arg413=)
NM_000071.3(CBS):c.1239T>C (p.Arg413=) rs2146341997
NM_000071.3(CBS):c.1245G>A (p.Gln415=)
NM_000071.3(CBS):c.1251G>C (p.Leu417=)
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser) rs1200734227
NM_000071.3(CBS):c.1257G>C (p.Leu419=) rs138432416
NM_000071.3(CBS):c.1260A>C (p.Ser420=) rs1060503997
NM_000071.3(CBS):c.1260A>G (p.Ser420=) rs1060503997
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.126G>A (p.Leu42=)
NM_000071.3(CBS):c.1272C>G (p.Thr424=) rs141717913
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
NM_000071.3(CBS):c.1290C>T (p.Thr430=) rs746564702
NM_000071.3(CBS):c.1296G>T (p.Gly432=)
NM_000071.3(CBS):c.1305C>A (p.Ile435=) rs769351162
NM_000071.3(CBS):c.1305C>T (p.Ile435=) rs769351162
NM_000071.3(CBS):c.1311C>T (p.Ile437=)
NM_000071.3(CBS):c.1320G>A (p.Glu440=) rs2146340988
NM_000071.3(CBS):c.1323G>A (p.Lys441=) rs2146340959
NM_000071.3(CBS):c.132C>T (p.Ile44=)
NM_000071.3(CBS):c.1338G>T (p.Ala446=) rs373962057
NM_000071.3(CBS):c.1341C>G (p.Pro447=)
NM_000071.3(CBS):c.1344G>A (p.Val448=)
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
NM_000071.3(CBS):c.1356G>C (p.Ala452=)
NM_000071.3(CBS):c.1356G>T (p.Ala452=) rs776322450
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1358+1G>A rs786204679
NM_000071.3(CBS):c.1358+7C>G rs1341743668
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.3(CBS):c.1359-10del
NM_000071.3(CBS):c.1359-13C>T
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1359-8T>C rs566872403
NM_000071.3(CBS):c.1359-9G>C
NM_000071.3(CBS):c.1359G>C (p.Gly453=) rs1307473439
NM_000071.3(CBS):c.135G>T (p.Arg45=) rs2146427946
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro) rs1981524462
NM_000071.3(CBS):c.1368G>A (p.Leu456=) rs199941488
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
NM_000071.3(CBS):c.1377G>C (p.Val459=)
NM_000071.3(CBS):c.1380G>T (p.Thr460=) rs765134080
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
NM_000071.3(CBS):c.138C>G (p.Pro46=)
NM_000071.3(CBS):c.138C>T (p.Pro46=) rs532584017
NM_000071.3(CBS):c.1395C>G (p.Leu465=) rs1601335326
NM_000071.3(CBS):c.1395C>T (p.Leu465=) rs1601335326
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter) rs121964971
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.13A>G (p.Thr5Ala) rs2146429088
NM_000071.3(CBS):c.140A>C (p.Asp47Ala) rs2146427913
NM_000071.3(CBS):c.1413G>A (p.Gly471=) rs777859460
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys) rs1555871913
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) rs1555871913
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg) rs2146337741
NM_000071.3(CBS):c.1467+11A>G
NM_000071.3(CBS):c.1467+11dup
NM_000071.3(CBS):c.1467+12C>A
NM_000071.3(CBS):c.1467+13C>G
NM_000071.3(CBS):c.1467+16C>T
NM_000071.3(CBS):c.1467+18_1467+79del
NM_000071.3(CBS):c.1467+19G>A
NM_000071.3(CBS):c.1467+1G>A rs111687029
NM_000071.3(CBS):c.1467+4C>T rs1981503515
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
NM_000071.3(CBS):c.1468-13G>A
NM_000071.3(CBS):c.1468-14C>T
NM_000071.3(CBS):c.1468-17C>T
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.1479G>T (p.Thr493=) rs143225442
NM_000071.3(CBS):c.1486C>T (p.Leu496=)
NM_000071.3(CBS):c.1488G>A (p.Leu496=)
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1500G>C (p.Ser500=) rs1057522901
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
NM_000071.3(CBS):c.1507C>T (p.Leu503=)
NM_000071.3(CBS):c.1514T>G (p.Met505Arg) rs1981234989
NM_000071.3(CBS):c.1527C>T (p.Ala509=) rs794727162
NM_000071.3(CBS):c.1530G>T (p.Leu510=) rs2146328130
NM_000071.3(CBS):c.1536G>T (p.Val512=)
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
NM_000071.3(CBS):c.153G>A (p.Arg51=) rs748795053
NM_000071.3(CBS):c.153_165del (p.Arg51fs) rs1555876784
NM_000071.3(CBS):c.1543C>T (p.Gln515Ter)
NM_000071.3(CBS):c.1549del (p.Gln517fs)
NM_000071.3(CBS):c.154T>A (p.Cys52Ser) rs2146427772
NM_000071.3(CBS):c.1552+10G>T
NM_000071.3(CBS):c.1552+11C>T
NM_000071.3(CBS):c.1552+12C>G
NM_000071.3(CBS):c.1552+15G>A
NM_000071.3(CBS):c.1552+20G>C
NM_000071.3(CBS):c.1552+5G>A
NM_000071.3(CBS):c.1552+7G>T
NM_000071.3(CBS):c.1552+8G>A
NM_000071.3(CBS):c.1552+9G>A
NM_000071.3(CBS):c.1553-11T>C
NM_000071.3(CBS):c.1553-14C>T
NM_000071.3(CBS):c.1553-16C>T rs1057522673
NM_000071.3(CBS):c.1553-18G>A
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-20C>A
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1553-5C>G
NM_000071.3(CBS):c.1553-5C>T
NM_000071.3(CBS):c.1553-6C>T rs2146316045
NM_000071.3(CBS):c.1553-9T>A
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr) rs779777933
NM_000071.3(CBS):c.1561del (p.Thr521fs)
NM_000071.3(CBS):c.1566G>A (p.Gly522=)
NM_000071.3(CBS):c.1566del (p.Lys523fs) rs786204466
NM_000071.3(CBS):c.156C>A (p.Cys52Ter) rs1983442077
NM_000071.3(CBS):c.1572C>G (p.Ser524=)
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys) rs1555869958
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter) rs1555869958
NM_000071.3(CBS):c.1579C>A (p.Arg527=) rs1455031864
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp) rs1455031864
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln) rs551198487
NM_000071.3(CBS):c.1581G>T (p.Arg527=) rs2146315789
NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)
NM_000071.3(CBS):c.1584G>A (p.Gln528=) rs2146315777
NM_000071.3(CBS):c.1597G>T (p.Val533Leu) rs1568916218
NM_000071.3(CBS):c.1599G>A (p.Val533=)
NM_000071.3(CBS):c.15C>G (p.Thr5=)
NM_000071.3(CBS):c.1602C>T (p.Val534=)
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
NM_000071.3(CBS):c.1634C>T (p.Ala545Val) rs754031824
NM_000071.3(CBS):c.1638G>A (p.Gln546=) rs2146315419
NM_000071.3(CBS):c.1641G>A (p.Glu547=) rs2146315391
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn) rs1980865900
NM_000071.3(CBS):c.1647C>T (p.Asp549=) rs2146315284
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
NM_000071.3(CBS):c.1650G>A (p.Gln550=)
NM_000071.3(CBS):c.1653G>A (p.Lys551=) rs2146315248
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys) rs1365095601
NM_000071.3(CBS):c.165G>A (p.Gln55=) rs755690693
NM_000071.3(CBS):c.177T>G (p.Pro59=)
NM_000071.3(CBS):c.179C>T (p.Ala60Val) rs765352771
NM_000071.3(CBS):c.183C>A (p.Ser61=) rs753906914
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
NM_000071.3(CBS):c.184dup (p.Glu62fs) rs2146427417
NM_000071.3(CBS):c.194A>G (p.His65Arg) rs1191141364
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.198C>T (p.His66=)
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.201C>T (p.His67=)
NM_000071.3(CBS):c.208_209+8del rs1983427704
NM_000071.3(CBS):c.209+13T>C
NM_000071.3(CBS):c.209+17A>C
NM_000071.3(CBS):c.209+19C>T
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.209+1G>C rs751464024
NM_000071.3(CBS):c.209+1_209+8del rs2146427112
NM_000071.3(CBS):c.209+20A>T
NM_000071.3(CBS):c.209+5G>C rs1555876750
NM_000071.3(CBS):c.209+7C>T rs374583085
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000071.3(CBS):c.210-12C>T
NM_000071.3(CBS):c.210-17G>T
NM_000071.3(CBS):c.210-19G>C
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.216A>G (p.Lys72=) rs1983118913
NM_000071.3(CBS):c.21G>A (p.Gln7=)
NM_000071.3(CBS):c.228C>T (p.Ile76=) rs1555876151
NM_000071.3(CBS):c.229T>C (p.Leu77=) rs2146414238
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
NM_000071.3(CBS):c.23C>T (p.Ala8Val) rs919403971
NM_000071.3(CBS):c.240T>A (p.Ile80=) rs1601375896
NM_000071.3(CBS):c.243G>C (p.Leu81=) rs2146414153
NM_000071.3(CBS):c.252C>T (p.Ile84=) rs1180701001
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.256del (p.Asp86fs) rs1208139876
NM_000071.3(CBS):c.258dup (p.Thr87fs)
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.262C>T (p.Pro88Ser) rs2146413970
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.279C>T (p.Asn93=) rs1983108444
NM_000071.3(CBS):c.282G>A (p.Lys94=)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
NM_000071.3(CBS):c.297C>G (p.Phe99Leu) rs749697783
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.30G>A (p.Val10=)
NM_000071.3(CBS):c.312G>A (p.Glu104=) rs2146413583
NM_000071.3(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.3(CBS):c.316+18G>A
NM_000071.3(CBS):c.316+19G>A
NM_000071.3(CBS):c.316+1G>A rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.316+5G>C rs1601375508
NM_000071.3(CBS):c.316+7G>A rs1601375483
NM_000071.3(CBS):c.316+7G>T
NM_000071.3(CBS):c.316+9C>T
NM_000071.3(CBS):c.317-10T>C rs2146395626
NM_000071.3(CBS):c.317-15A>G rs2146395668
NM_000071.3(CBS):c.317-15A>T
NM_000071.3(CBS):c.317-21_317-20del
NM_000071.3(CBS):c.317-2A>G rs2146395543
NM_000071.3(CBS):c.317-3del
NM_000071.3(CBS):c.317-4C>T rs1368026782
NM_000071.3(CBS):c.317-8C>G rs1601366707
NM_000071.3(CBS):c.317-8C>T rs1601366707
NM_000071.3(CBS):c.321C>T (p.Ala107=) rs1555875422
NM_000071.3(CBS):c.323A>G (p.Lys108Arg) rs2146395442
NM_000071.3(CBS):c.324G>A (p.Lys108=)
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.330G>A (p.Glu110=) rs2146395397
NM_000071.3(CBS):c.333C>T (p.Phe111=)
NM_000071.3(CBS):c.33G>C (p.Gly11=)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser) rs377708532
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) rs760214620
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.366C>T (p.Ile122=)
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.3(CBS):c.369C>T (p.Ser123=) rs1555875387
NM_000071.3(CBS):c.371_374dup (p.Met126fs) rs755625628
NM_000071.3(CBS):c.379del (p.Ile127fs)
NM_000071.3(CBS):c.381T>G (p.Ile127Met) rs199824647
NM_000071.3(CBS):c.382G>T (p.Glu128Ter)
NM_000071.3(CBS):c.393G>C (p.Glu131Asp) rs1555875351
NM_000071.3(CBS):c.394C>A (p.Arg132Ser) rs140002610
NM_000071.3(CBS):c.400G>C (p.Gly134Arg) rs147474549
NM_000071.3(CBS):c.402del (p.Thr135fs) rs1057517083
NM_000071.3(CBS):c.405G>T (p.Thr135=) rs940663649
NM_000071.3(CBS):c.405_406delinsTT (p.Thr135_Leu136=) rs2146394141
NM_000071.3(CBS):c.407del (p.Leu136fs)
NM_000071.3(CBS):c.408G>A (p.Leu136=)
NM_000071.3(CBS):c.414C>G (p.Pro138=)
NM_000071.3(CBS):c.414C>T (p.Pro138=) rs201860288
NM_000071.3(CBS):c.421A>G (p.Thr141Ala) rs2146393956
NM_000071.3(CBS):c.423G>A (p.Thr141=)
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
NM_000071.3(CBS):c.427dup (p.Ile143fs) rs2146393861
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.3(CBS):c.435G>T (p.Pro145=)
NM_000071.3(CBS):c.438A>C (p.Thr146=)
NM_000071.3(CBS):c.441C>A (p.Ser147=) rs367669819
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.444G>A (p.Gly148=) rs2146393601
NM_000071.3(CBS):c.444dup (p.Asn149fs) rs2146393621
NM_000071.3(CBS):c.450C>A (p.Thr150=)
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.451+11G>A
NM_000071.3(CBS):c.451+16A>T
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.451+20G>A rs1057520922
NM_000071.3(CBS):c.451+20G>C
NM_000071.3(CBS):c.451+20G>T rs1057520922
NM_000071.3(CBS):c.451+7G>A
NM_000071.3(CBS):c.451+8C>T rs1268489943
NM_000071.3(CBS):c.451G>T (p.Gly151Trp) rs373782713
NM_000071.3(CBS):c.452-14C>G
NM_000071.3(CBS):c.452-153_624dup rs1568932440
NM_000071.3(CBS):c.452-16C>T rs1298903868
NM_000071.3(CBS):c.452-17C>T
NM_000071.3(CBS):c.452-18C>A
NM_000071.3(CBS):c.452-19A>G
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.452-4T>C rs2146388397
NM_000071.3(CBS):c.456C>G (p.Ile152Met)
NM_000071.3(CBS):c.456_477del (p.Ile152fs) rs2146387963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.465C>A (p.Ala155=)
NM_000071.3(CBS):c.465C>T (p.Ala155=) rs962625978
NM_000071.3(CBS):c.469G>A (p.Ala157Thr) rs199817801
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.474G>C (p.Ala158=) rs189362155
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs) rs1982618780
NM_000071.3(CBS):c.481del (p.Arg161fs) rs2146387904
NM_000071.3(CBS):c.492C>G (p.Arg164=)
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.495C>T (p.Cys165=)
NM_000071.3(CBS):c.49C>A (p.His17Asn) rs2146428735
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.504G>A (p.Val168=)
NM_000071.3(CBS):c.518T>G (p.Met173Arg) rs1982605960
NM_000071.3(CBS):c.522C>T (p.Ser174=)
NM_000071.3(CBS):c.525C>G (p.Ser175=)
NM_000071.3(CBS):c.526G>A (p.Glu176Lys) rs762065361
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.526G>T (p.Glu176Ter) rs762065361
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.52C>A (p.Arg18Ser) rs201827340
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
NM_000071.3(CBS):c.531+10C>T
NM_000071.3(CBS):c.531+12T>A
NM_000071.3(CBS):c.531+15C>T
NM_000071.3(CBS):c.531+16C>A
NM_000071.3(CBS):c.531+17del
NM_000071.3(CBS):c.531+19G>T
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T rs1207298097
NM_000071.3(CBS):c.531+8G>A
NM_000071.3(CBS):c.532-16G>A rs373834235
NM_000071.3(CBS):c.532-16G>T
NM_000071.3(CBS):c.532-18C>A
NM_000071.3(CBS):c.532-19A>G
NM_000071.3(CBS):c.532-1G>A rs2146385603
NM_000071.3(CBS):c.532-2A>G rs1568932835
NM_000071.3(CBS):c.532-7C>G
NM_000071.3(CBS):c.534G>T (p.Val178=) rs1982572494
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
NM_000071.3(CBS):c.546G>A (p.Arg182=) rs2146385311
NM_000071.3(CBS):c.54C>T (p.Arg18=) rs1601384537
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
NM_000071.3(CBS):c.555G>T (p.Gly185=) rs1291496530
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
NM_000071.3(CBS):c.576C>T (p.Pro192=)
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
NM_000071.3(CBS):c.582T>C (p.Asn194=)
NM_000071.3(CBS):c.585C>G (p.Ala195=)
NM_000071.3(CBS):c.586A>C (p.Arg196=)
NM_000071.3(CBS):c.591C>T (p.Phe197=)
NM_000071.3(CBS):c.596C>G (p.Ser199Cys) rs1982554358
NM_000071.3(CBS):c.597C>T (p.Ser199=) rs764210379
NM_000071.3(CBS):c.59G>A (p.Gly20Glu) rs1983457688
NM_000071.3(CBS):c.606A>T (p.Ser202=) rs2146384454
NM_000071.3(CBS):c.60G>A (p.Gly20=)
NM_000071.3(CBS):c.60G>T (p.Gly20=) rs1172449590
NM_000071.3(CBS):c.612G>A (p.Val204=) rs539670390
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.3(CBS):c.615G>A (p.Gly205=)
NM_000071.3(CBS):c.618G>T (p.Val206=)
NM_000071.3(CBS):c.621C>T (p.Ala207=)
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.624G>A (p.Trp208Ter) rs774174074
NM_000071.3(CBS):c.624G>T (p.Trp208Cys) rs774174074
NM_000071.3(CBS):c.625C>A (p.Arg209=) rs137939628
NM_000071.3(CBS):c.626G>A (p.Arg209Gln) rs781759129
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
NM_000071.3(CBS):c.63A>G (p.Pro21=)
NM_000071.3(CBS):c.642C>A (p.Ile214=) rs752866551
NM_000071.3(CBS):c.642C>T (p.Ile214=) rs752866551
NM_000071.3(CBS):c.666+11T>C
NM_000071.3(CBS):c.666+15G>A rs2146383353
NM_000071.3(CBS):c.666+19G>A
NM_000071.3(CBS):c.666+7C>T
NM_000071.3(CBS):c.666+9C>A
NM_000071.3(CBS):c.666+9C>T rs760597046
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.667-14C>G rs1388184910
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.667-15T>C
NM_000071.3(CBS):c.667-18T>C
NM_000071.3(CBS):c.667-3C>A
NM_000071.3(CBS):c.667-4G>A rs750338571
NM_000071.3(CBS):c.667-4G>T rs750338571
NM_000071.3(CBS):c.667-7T>C rs2146382253
NM_000071.3(CBS):c.667-9T>G rs1231532652
NM_000071.3(CBS):c.669C>T (p.Tyr223=) rs1366764579
NM_000071.3(CBS):c.66C>T (p.His22=)
NM_000071.3(CBS):c.671G>A (p.Arg224His)
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.684C>A (p.Asn228Lys) rs1464223176
NM_000071.3(CBS):c.684C>T (p.Asn228=)
NM_000071.3(CBS):c.685C>A (p.Pro229Thr) rs375730175
NM_000071.3(CBS):c.688C>T (p.Leu230=)
NM_000071.3(CBS):c.690G>A (p.Leu230=) rs2146381761
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
NM_000071.3(CBS):c.6T>A (p.Pro2=)
NM_000071.3(CBS):c.702C>T (p.Asp234=) rs2146381576
NM_000071.3(CBS):c.702del (p.Asp234fs) rs2146381604
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
NM_000071.3(CBS):c.710C>T (p.Ala237Val) rs1568931765
NM_000071.3(CBS):c.721C>T (p.Leu241=)
NM_000071.3(CBS):c.723G>C (p.Leu241=)
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
NM_000071.3(CBS):c.729G>A (p.Gln243=)
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr) rs1982489718
NM_000071.3(CBS):c.732T>C (p.Cys244=)
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736+11C>G
NM_000071.3(CBS):c.736+11C>T
NM_000071.3(CBS):c.736+17A>G rs1982483674
NM_000071.3(CBS):c.736+17A>T
NM_000071.3(CBS):c.736+2T>G rs863223430
NM_000071.3(CBS):c.736+7C>A
NM_000071.3(CBS):c.736+8C>A rs752611922
NM_000071.3(CBS):c.736+8C>T
NM_000071.3(CBS):c.736+9C>G
NM_000071.3(CBS):c.736+9C>T
NM_000071.3(CBS):c.737-10C>A
NM_000071.3(CBS):c.737-10C>G
NM_000071.3(CBS):c.737-12T>C
NM_000071.3(CBS):c.737-13A>G
NM_000071.3(CBS):c.737-17T>C
NM_000071.3(CBS):c.737-19A>T
NM_000071.3(CBS):c.737-7C>T
NM_000071.3(CBS):c.738del rs766453711
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)
NM_000071.3(CBS):c.741G>A (p.Lys247=)
NM_000071.3(CBS):c.745G>A (p.Asp249Asn) rs767397847
NM_000071.3(CBS):c.747C>T (p.Asp249=) rs1601356424
NM_000071.3(CBS):c.748A>G (p.Met250Val) rs777884368
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
NM_000071.3(CBS):c.749T>A (p.Met250Lys) rs1555874564
NM_000071.3(CBS):c.750G>A (p.Met250Ile) rs863223431
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.753G>T (p.Leu251=) rs2146375662
NM_000071.3(CBS):c.754del (p.Val252fs)
NM_000071.3(CBS):c.75G>A (p.Lys25=)
NM_000071.3(CBS):c.75G>T (p.Lys25Asn) rs1484147890
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
NM_000071.3(CBS):c.762A>T (p.Ser254=) rs2146375612
NM_000071.3(CBS):c.766G>A (p.Gly256Ser) rs1000697114
NM_000071.3(CBS):c.771G>T (p.Thr257=)
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.783C>A (p.Ile261=)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.785C>G (p.Thr262Arg)
NM_000071.3(CBS):c.786G>C (p.Thr262=)
NM_000071.3(CBS):c.78G>A (p.Gly26=) rs370064290
NM_000071.3(CBS):c.78dup (p.Ser27fs)
NM_000071.3(CBS):c.795C>T (p.Ala265=) rs774812804
NM_000071.3(CBS):c.802C>T (p.Leu268=) rs2146375082
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.815_816del (p.Cys272fs)
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000071.3(CBS):c.816T>C (p.Cys272=)
NM_000071.3(CBS):c.817C>T (p.Pro273Ser) rs2146374921
NM_000071.3(CBS):c.822A>T (p.Gly274=) rs2146374874
NM_000071.3(CBS):c.825C>A (p.Cys275Ter)
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.828+15C>T
NM_000071.3(CBS):c.828+16G>C
NM_000071.3(CBS):c.828+7G>A
NM_000071.3(CBS):c.829-10C>A
NM_000071.3(CBS):c.829-12C>A
NM_000071.3(CBS):c.829-13G>T
NM_000071.3(CBS):c.829-14C>A
NM_000071.3(CBS):c.829-249_878del rs2146366969
NM_000071.3(CBS):c.829-2dup
NM_000071.3(CBS):c.829-4G>A rs1601352751
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000071.3(CBS):c.837_841dup (p.Asp281fs)
NM_000071.3(CBS):c.838G>A (p.Val280Met) rs1982225866
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367577
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGAGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367555
NM_000071.3(CBS):c.846C>T (p.Pro282=)
NM_000071.3(CBS):c.84G>A (p.Leu28=) rs1601384336
NM_000071.3(CBS):c.852G>A (p.Gly284=) rs1269665368
NM_000071.3(CBS):c.855C>T (p.Ser285=) rs1201628362
NM_000071.3(CBS):c.857T>C (p.Ile286Thr) rs1060500681
NM_000071.3(CBS):c.861C>T (p.Leu287=) rs754312192
NM_000071.3(CBS):c.862G>T (p.Ala288Ser) rs141502207
NM_000071.3(CBS):c.864A>C (p.Ala288=) rs2146367182
NM_000071.3(CBS):c.866A>G (p.Glu289Gly) rs1601352415
NM_000071.3(CBS):c.869C>T (p.Pro290Leu) rs760912339
NM_000071.3(CBS):c.870G>C (p.Pro290=) rs773580068
NM_000071.3(CBS):c.87G>A (p.Glu29=)
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000071.3(CBS):c.888G>C (p.Thr296=)
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.892dup (p.Gln298fs)
NM_000071.3(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.3(CBS):c.906G>A (p.Glu302=) rs2146366576
NM_000071.3(CBS):c.90G>A (p.Lys30=) rs2146428287
NM_000071.3(CBS):c.915G>C (p.Gly305=)
NM_000071.3(CBS):c.915G>T (p.Gly305=)
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.933C>T (p.Ile311=) rs2146366372
NM_000071.3(CBS):c.936C>T (p.Pro312=) rs1601351871
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
NM_000071.3(CBS):c.93G>T (p.Gly31=) rs754409674
NM_000071.3(CBS):c.945G>A (p.Leu315=) rs2146366216
NM_000071.3(CBS):c.946G>A (p.Asp316Asn) rs2146366197
NM_000071.3(CBS):c.948C>T (p.Asp316=)
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000071.3(CBS):c.954+10G>A
NM_000071.3(CBS):c.954+15G>T
NM_000071.3(CBS):c.954+17G>A
NM_000071.3(CBS):c.954+18C>G rs1057521202
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+20C>A
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.954+5G>T rs1568928886
NM_000071.3(CBS):c.954+8G>T
NM_000071.3(CBS):c.954+9A>G
NM_000071.3(CBS):c.954G>A (p.Thr318=) rs776122644
NM_000071.3(CBS):c.955-11G>T
NM_000071.3(CBS):c.955-3C>T
NM_000071.3(CBS):c.955-5C>A rs746366131
NM_000071.3(CBS):c.955-5C>T
NM_000071.3(CBS):c.955-8C>T rs1290305207
NM_000071.3(CBS):c.957G>C (p.Val319=)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000071.3(CBS):c.972C>T (p.Phe324=)
NM_000071.3(CBS):c.978C>T (p.Ser326=) rs1343681863
NM_000071.3(CBS):c.987G>C (p.Glu329Asp) rs765151853
NM_000071.3(CBS):c.98del (p.Pro33fs) rs2146428203
NM_000071.3(CBS):c.990G>A (p.Glu330=) rs1373353287
NM_000071.3(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
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.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.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+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.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.2044-20T>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.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.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.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+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.2406-2A>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+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.2474-19_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.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.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>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.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.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.3712-4G>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.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.610-1_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.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.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_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.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
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.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.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.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.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.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.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.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.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.1676+15dup
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.171T>A (p.Val57=) rs2126662820
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
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.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.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.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.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.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.369C>T (p.Phe123=)
NM_002454.3(MTRR):c.375C>T (p.Asp125=) rs757292247
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.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.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.781-4C>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+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.904-2A>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.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.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.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.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.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.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.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.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.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.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.286-10C>G
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
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.426-4C>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>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.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.669-6G>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.716A>G (p.Tyr239Cys)
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.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+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_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.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.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.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.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.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.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.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.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.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.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.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.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.3689C>T (p.Ala1230Val)
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_005957.5(MTHFR):c.-13-28_-13-12del
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro)
NM_005957.5(MTHFR):c.1008G>A (p.Leu336=) rs2100530121
NM_005957.5(MTHFR):c.1011del (p.Met338fs) rs1380686004
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly) rs267606886
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile)
NM_005957.5(MTHFR):c.1023G>A (p.Glu341=)
NM_005957.5(MTHFR):c.1026C>T (p.Asp342=) rs763896620
NM_005957.5(MTHFR):c.1029C>T (p.Pro343=)
NM_005957.5(MTHFR):c.1031+12G>A
NM_005957.5(MTHFR):c.1031+15C>T
NM_005957.5(MTHFR):c.1031+20G>A
NM_005957.5(MTHFR):c.1031+8C>T
NM_005957.5(MTHFR):c.1032-11T>A
NM_005957.5(MTHFR):c.1032-12A>T
NM_005957.5(MTHFR):c.1032-12_1038del rs2100528352
NM_005957.5(MTHFR):c.1032-14C>T
NM_005957.5(MTHFR):c.1032-16C>T
NM_005957.5(MTHFR):c.1032-17del
NM_005957.5(MTHFR):c.1032-1G>C
NM_005957.5(MTHFR):c.1032-20C>T
NM_005957.5(MTHFR):c.1032-4C>T rs943653758
NM_005957.5(MTHFR):c.1032-7C>T
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg)
NM_005957.5(MTHFR):c.1038C>T (p.Pro346=)
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)
NM_005957.5(MTHFR):c.1059C>T (p.Ala353=) rs2100528167
NM_005957.5(MTHFR):c.105G>C (p.Pro35=)
NM_005957.5(MTHFR):c.105G>T (p.Pro35=)
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1063_1075del (p.Pro355fs) rs2100527918
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln)
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys)
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val)
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=) rs1486854528
NM_005957.5(MTHFR):c.1089T>A (p.Arg363=) rs2100527802
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys)
NM_005957.5(MTHFR):c.1108A>C (p.Arg370=) rs2100527712
NM_005957.5(MTHFR):c.1113A>G (p.Pro371=) rs2100527693
NM_005957.5(MTHFR):c.1114_1115del (p.Lys372fs) rs1263501260
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys) rs1570474242
NM_005957.5(MTHFR):c.111G>A (p.Leu37=) rs1553188013
NM_005957.5(MTHFR):c.1121dup (p.Tyr374Ter) rs2100527601
NM_005957.5(MTHFR):c.1125C>T (p.Ile375=)
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)
NM_005957.5(MTHFR):c.1144del (p.Asp382fs) rs747668376
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp)
NM_005957.5(MTHFR):c.1166+12C>T
NM_005957.5(MTHFR):c.1166+18T>C
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1166+7G>A
NM_005957.5(MTHFR):c.1166+8C>T
NM_005957.5(MTHFR):c.1166+9C>T
NM_005957.5(MTHFR):c.1167-12C>T
NM_005957.5(MTHFR):c.1167-14C>A
NM_005957.5(MTHFR):c.1167-14C>T
NM_005957.5(MTHFR):c.1167-18T>C
NM_005957.5(MTHFR):c.1167-7C>T
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys) rs1570473609
NM_005957.5(MTHFR):c.1188C>T (p.Ala396=) rs771601940
NM_005957.5(MTHFR):c.1197G>A (p.Glu399=) rs1367495674
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del)
NM_005957.5(MTHFR):c.120G>A (p.Glu40=) rs1394958095
NM_005957.5(MTHFR):c.121C>A (p.Arg41=)
NM_005957.5(MTHFR):c.1221C>T (p.Tyr407=) rs2100525246
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg)
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly) rs2100525175
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1233G>A (p.Lys411=)
NM_005957.5(MTHFR):c.1245G>A (p.Glu415=)
NM_005957.5(MTHFR):c.1248G>A (p.Glu416=) rs2100524560
NM_005957.5(MTHFR):c.1252_1275del (p.Leu418_Leu425del)
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup) rs1334349459
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter) rs200137991
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1266G>A (p.Gly422=) rs2100524088
NM_005957.5(MTHFR):c.1275G>A (p.Leu425=)
NM_005957.5(MTHFR):c.1278C>G (p.Thr426=) rs2100523738
NM_005957.5(MTHFR):c.1278C>T (p.Thr426=)
NM_005957.5(MTHFR):c.1290T>C (p.Ser430=)
NM_005957.5(MTHFR):c.1293C>G (p.Val431=)
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile)
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His)
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1329A>C (p.Pro443=) rs2100522480
NM_005957.5(MTHFR):c.1332C>T (p.Asn444=)
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)
NM_005957.5(MTHFR):c.1335G>C (p.Arg445=)
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)
NM_005957.5(MTHFR):c.1344C>T (p.His448=) rs745497522
NM_005957.5(MTHFR):c.1347+14_1347+80del
NM_005957.5(MTHFR):c.1347+16G>T
NM_005957.5(MTHFR):c.1347+1G>A
NM_005957.5(MTHFR):c.1347+9T>C
NM_005957.5(MTHFR):c.1348-12C>T
NM_005957.5(MTHFR):c.1348-15C>G
NM_005957.5(MTHFR):c.1348-15C>T
NM_005957.5(MTHFR):c.1348-17C>T
NM_005957.5(MTHFR):c.1348-4C>G rs2100519965
NM_005957.5(MTHFR):c.1348-5C>T rs1644192802
NM_005957.5(MTHFR):c.1357C>T (p.Leu453=)
NM_005957.5(MTHFR):c.1362C>G (p.Pro454=) rs1570472454
NM_005957.5(MTHFR):c.136C>A (p.Arg46=) rs138189536
NM_005957.5(MTHFR):c.136del (p.Arg46fs)
NM_005957.5(MTHFR):c.1374G>A (p.Glu458=)
NM_005957.5(MTHFR):c.1378del (p.Leu460fs)
NM_005957.5(MTHFR):c.1380G>A (p.Leu460=)
NM_005957.5(MTHFR):c.1386T>A (p.Ala462=)
NM_005957.5(MTHFR):c.138G>A (p.Arg46=)
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp) rs2100519489
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) rs139645527
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1416G>T (p.Leu472=) rs2100519362
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp)
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)
NM_005957.5(MTHFR):c.1425C>T (p.Asn475=)
NM_005957.5(MTHFR):c.1428C>T (p.Arg476=)
NM_005957.5(MTHFR):c.1440C>T (p.Leu480=) rs1644188527
NM_005957.5(MTHFR):c.1455G>A (p.Gln485=) rs545002537
NM_005957.5(MTHFR):c.1458C>T (p.Pro486=) rs2100518947
NM_005957.5(MTHFR):c.145A>G (p.Met49Val) rs1570498105
NM_005957.5(MTHFR):c.1470G>A (p.Gly490=) rs2100518831
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu)
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=)
NM_005957.5(MTHFR):c.1485C>T (p.Asp495=)
NM_005957.5(MTHFR):c.1502del (p.Gly501fs)
NM_005957.5(MTHFR):c.1503C>A (p.Gly501=)
NM_005957.5(MTHFR):c.1509C>T (p.Ser503=)
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) rs376927238
NM_005957.5(MTHFR):c.1518T>C (p.Tyr506=) rs2100518329
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu) rs1425929014
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr) rs753049408
NM_005957.5(MTHFR):c.1530+14G>A
NM_005957.5(MTHFR):c.1530+17C>T
NM_005957.5(MTHFR):c.1530+18G>A
NM_005957.5(MTHFR):c.1530+19G>A
NM_005957.5(MTHFR):c.1530+1G>A
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1530+6G>A
NM_005957.5(MTHFR):c.1530+7T>C
NM_005957.5(MTHFR):c.1530+8A>G rs772858015
NM_005957.5(MTHFR):c.1530+8A>T rs772858015
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=) rs765586205
NM_005957.5(MTHFR):c.1531-11C>G
NM_005957.5(MTHFR):c.1531-12T>A
NM_005957.5(MTHFR):c.1531-16C>G
NM_005957.5(MTHFR):c.1531-19G>A
NM_005957.5(MTHFR):c.1531-1G>C
NM_005957.5(MTHFR):c.1531-7C>T rs777858766
NM_005957.5(MTHFR):c.1531-8T>C rs2100507748
NM_005957.5(MTHFR):c.1533C>G (p.Ala511=)
NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=)
NM_005957.5(MTHFR):c.1539dup (p.Glu514fs)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1542G>A (p.Glu514=)
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.1552del (p.Ser518fs) rs2100507511
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His)
NM_005957.5(MTHFR):c.1557C>A (p.Arg519=) rs780544969
NM_005957.5(MTHFR):c.1557C>T (p.Arg519=) rs780544969
NM_005957.5(MTHFR):c.1563A>G (p.Thr521=) rs2100507296
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly) rs774934088
NM_005957.5(MTHFR):c.1575T>G (p.Leu525=)
NM_005957.5(MTHFR):c.1578G>A (p.Leu526=)
NM_005957.5(MTHFR):c.1584G>A (p.Val528=)
NM_005957.5(MTHFR):c.1593G>A (p.Lys531=) rs113615972
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1605G>A (p.Arg535=)
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1611T>C (p.Asn537=) rs796064511
NM_005957.5(MTHFR):c.162A>G (p.Glu54=) rs753692902
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp) rs753692902
NM_005957.5(MTHFR):c.1632+10G>T
NM_005957.5(MTHFR):c.1632+11C>T
NM_005957.5(MTHFR):c.1632+13C>T
NM_005957.5(MTHFR):c.1632+14del
NM_005957.5(MTHFR):c.1632+15A>G
NM_005957.5(MTHFR):c.1632+35G>C
NM_005957.5(MTHFR):c.1632+9G>C
NM_005957.5(MTHFR):c.1633-10A>C
NM_005957.5(MTHFR):c.1633-15_1633-14delinsTT
NM_005957.5(MTHFR):c.1633-18C>A
NM_005957.5(MTHFR):c.1633-18del
NM_005957.5(MTHFR):c.1633-18dup rs759960805
NM_005957.5(MTHFR):c.1633-20C>A
NM_005957.5(MTHFR):c.1633-5C>T
NM_005957.5(MTHFR):c.1633-5dup
NM_005957.5(MTHFR):c.1633-7C>A
NM_005957.5(MTHFR):c.1633-7C>T rs776084278
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del)
NM_005957.5(MTHFR):c.1650T>C (p.Asn550=) rs2100499565
NM_005957.5(MTHFR):c.1668G>T (p.Pro556=) rs778486116
NM_005957.5(MTHFR):c.1674T>C (p.Ala558=) rs933241629
NM_005957.5(MTHFR):c.1677C>T (p.Val559=) rs754425084
NM_005957.5(MTHFR):c.1680T>C (p.Thr560=) rs1644095203
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)
NM_005957.5(MTHFR):c.1686C>T (p.Gly562=)
NM_005957.5(MTHFR):c.168T>C (p.Gly56=)
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu)
NM_005957.5(MTHFR):c.1698G>A (p.Gly566=) rs2100499222
NM_005957.5(MTHFR):c.16del (p.Arg6fs)
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln)
NM_005957.5(MTHFR):c.1701A>G (p.Arg567=)
NM_005957.5(MTHFR):c.1704G>A (p.Glu568=) rs1644094379
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_005957.5(MTHFR):c.1712del (p.Gln571fs) rs2100499107
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)
NM_005957.5(MTHFR):c.171C>T (p.Asp57=) rs1570497974
NM_005957.5(MTHFR):c.1722A>G (p.Val574=) rs936532190
NM_005957.5(MTHFR):c.1737C>T (p.Ser579=)
NM_005957.5(MTHFR):c.1749_1752+7del
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1752+12G>T
NM_005957.5(MTHFR):c.1752+16G>C
NM_005957.5(MTHFR):c.1752+16del
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.1753-10GT[6]
NM_005957.5(MTHFR):c.1753-12_1753-9dup rs1644075708
NM_005957.5(MTHFR):c.1753-13T>C
NM_005957.5(MTHFR):c.1753-14G>A
NM_005957.5(MTHFR):c.1753-14dup rs758514539
NM_005957.5(MTHFR):c.1753-15G>C
NM_005957.5(MTHFR):c.1753-16G>A
NM_005957.5(MTHFR):c.1753-18G>T
NM_005957.5(MTHFR):c.1753-19C>T
NM_005957.5(MTHFR):c.1753-20G>T
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.1753-25TG[2] rs751611452
NM_005957.5(MTHFR):c.1753-34_1753-19del
NM_005957.5(MTHFR):c.1753-34_1753-19dup
NM_005957.5(MTHFR):c.1753-37_1753-20dup
NM_005957.5(MTHFR):c.1753-3T>G
NM_005957.5(MTHFR):c.1753-4G>A
NM_005957.5(MTHFR):c.1753-4G>T rs543808715
NM_005957.5(MTHFR):c.1753-8G>C
NM_005957.5(MTHFR):c.1767C>T (p.Ala589=)
NM_005957.5(MTHFR):c.1768del (p.Leu590fs) rs2100495241
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter) rs767789270
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp)
NM_005957.5(MTHFR):c.1788A>G (p.Gly596=) rs776182425
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys)
NM_005957.5(MTHFR):c.1803G>A (p.Glu601=)
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
NM_005957.5(MTHFR):c.1806G>A (p.Glu602=) rs2100494839
NM_005957.5(MTHFR):c.1815C>T (p.Ser605=) rs1293653587
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)
NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) rs756615138
NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=)
NM_005957.5(MTHFR):c.1836C>T (p.Ile612=) rs2100494373
NM_005957.5(MTHFR):c.183C>G (p.Ser61=) rs2100577499
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn) rs879406669
NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)
NM_005957.5(MTHFR):c.1852del (p.Leu618fs) rs2100494177
NM_005957.5(MTHFR):c.1863G>C (p.Leu621=) rs2100494045
NM_005957.5(MTHFR):c.1866G>A (p.Val622=)
NM_005957.5(MTHFR):c.1875C>T (p.Asp625=) rs2100493955
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)
NM_005957.5(MTHFR):c.1896C>T (p.Leu632=) rs1360182594
NM_005957.5(MTHFR):c.1902G>A (p.Gln634=) rs2100493744
NM_005957.5(MTHFR):c.1905G>A (p.Val635=) rs1383645963
NM_005957.5(MTHFR):c.1918T>C (p.Leu640=) rs558230616
NM_005957.5(MTHFR):c.191del (p.Phe64fs) rs2100577466
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)
NM_005957.5(MTHFR):c.1944G>A (p.Gln648=)
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)
NM_005957.5(MTHFR):c.1947T>C (p.Asn649=) rs2100493398
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)
NM_005957.5(MTHFR):c.1950G>A (p.Ala650=) rs1300052327
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)
NM_005957.5(MTHFR):c.1953A>G (p.Arg651=) rs2100493280
NM_005957.5(MTHFR):c.1970G>A (p.Ter657=) rs749490263
NM_005957.5(MTHFR):c.1A>G (p.Met1Val) rs776734688
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) rs763539350
NM_005957.5(MTHFR):c.225T>C (p.Asn75=) rs2100577290
NM_005957.5(MTHFR):c.228C>T (p.Leu76=) rs2100577261
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005957.5(MTHFR):c.234A>G (p.Ser78=) rs771782125
NM_005957.5(MTHFR):c.236+10T>C
NM_005957.5(MTHFR):c.236+13A>G
NM_005957.5(MTHFR):c.236+15G>A rs2100577025
NM_005957.5(MTHFR):c.236+20A>T
NM_005957.5(MTHFR):c.236+7T>A
NM_005957.5(MTHFR):c.236+9A>C rs1253089753
NM_005957.5(MTHFR):c.236+9A>T rs1253089753
NM_005957.5(MTHFR):c.237-10C>A
NM_005957.5(MTHFR):c.237-15A>G
NM_005957.5(MTHFR):c.237-1G>T
NM_005957.5(MTHFR):c.237-20C>T
NM_005957.5(MTHFR):c.237-2A>C rs1644381879
NM_005957.5(MTHFR):c.237-2A>G
NM_005957.5(MTHFR):c.237-4A>G rs1372519713
NM_005957.5(MTHFR):c.237-8C>T
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu) rs541505625
NM_005957.5(MTHFR):c.243C>T (p.Asp81=)
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln)
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp)
NM_005957.5(MTHFR):c.261C>T (p.Gly87=)
NM_005957.5(MTHFR):c.264C>T (p.Pro88=) rs1311706078
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val) rs1042792109
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val)
NM_005957.5(MTHFR):c.273A>C (p.Ile91=)
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) rs2100568604
NM_005957.5(MTHFR):c.288C>T (p.His96=) rs748688171
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)
NM_005957.5(MTHFR):c.315G>A (p.Lys105=) rs2100568147
NM_005957.5(MTHFR):c.318G>A (p.Glu106=) rs2100568106
NM_005957.5(MTHFR):c.324C>A (p.Ser108=)
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val) rs1421914910
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.339C>G (p.Ala113=)
NM_005957.5(MTHFR):c.339C>T (p.Ala113=)
NM_005957.5(MTHFR):c.345C>A (p.Thr115=) rs2066461
NM_005957.5(MTHFR):c.345C>T (p.Thr115=) rs2066461
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005957.5(MTHFR):c.348C>G (p.Ala116=)
NM_005957.5(MTHFR):c.354C>T (p.Asn118=)
NM_005957.5(MTHFR):c.357C>T (p.Tyr119=)
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
NM_005957.5(MTHFR):c.36C>T (p.Asn12=) rs1046343781
NM_005957.5(MTHFR):c.387C>T (p.Thr129=)
NM_005957.5(MTHFR):c.390C>T (p.Cys130=) rs1185978577
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys)
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)
NM_005957.5(MTHFR):c.401G>A (p.Arg134His)
NM_005957.5(MTHFR):c.402C>A (p.Arg134=) rs2100567232
NM_005957.5(MTHFR):c.408G>A (p.Glu136=)
NM_005957.5(MTHFR):c.417G>C (p.Thr139=) rs2066466
NM_005957.5(MTHFR):c.417G>T (p.Thr139=) rs2066466
NM_005957.5(MTHFR):c.421C>G (p.His141Asp)
NM_005957.5(MTHFR):c.426G>T (p.Leu142=) rs1553187352
NM_005957.5(MTHFR):c.42C>T (p.Cys14=)
NM_005957.5(MTHFR):c.43T>C (p.Leu15=) rs2100578574
NM_005957.5(MTHFR):c.444G>T (p.Leu148=) rs1644375978
NM_005957.5(MTHFR):c.446_447delinsTT (p.Gly149Val) rs1644375837
NM_005957.5(MTHFR):c.447C>T (p.Gly149=)
NM_005957.5(MTHFR):c.448C>T (p.Leu150=) rs2100566876
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter) rs2100566841
NM_005957.5(MTHFR):c.456C>T (p.Asn152=) rs2100566808
NM_005957.5(MTHFR):c.465G>A (p.Ala155=) rs566125423
NM_005957.5(MTHFR):c.465G>T (p.Ala155=) rs566125423
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_005957.5(MTHFR):c.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.475+10C>T
NM_005957.5(MTHFR):c.475+17C>A
NM_005957.5(MTHFR):c.475+1G>A rs748397580
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.475+4T>C
NM_005957.5(MTHFR):c.475+8G>A
NM_005957.5(MTHFR):c.476-13A>G
NM_005957.5(MTHFR):c.476-1G>A rs2100562061
NM_005957.5(MTHFR):c.476-6C>T rs1219357233
NM_005957.5(MTHFR):c.476-8C>T rs1282906772
NM_005957.5(MTHFR):c.476-9A>G rs2100562141
NM_005957.5(MTHFR):c.48G>A (p.Glu16=)
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter) rs774118546
NM_005957.5(MTHFR):c.4G>A (p.Val2Met)
NM_005957.5(MTHFR):c.507G>A (p.Glu169=)
NM_005957.5(MTHFR):c.516C>T (p.Phe172=)
NM_005957.5(MTHFR):c.519C>T (p.Asn173=)
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) rs1182635980
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu)
NM_005957.5(MTHFR):c.531C>T (p.Asp177=) rs2100561654
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) rs121434294
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn)
NM_005957.5(MTHFR):c.576C>A (p.Ile192=)
NM_005957.5(MTHFR):c.57C>A (p.Ala19=) rs2100578481
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369
NM_005957.5(MTHFR):c.586+11G>A
NM_005957.5(MTHFR):c.586+15C>T
NM_005957.5(MTHFR):c.586+18C>G
NM_005957.5(MTHFR):c.586+20T>C
NM_005957.5(MTHFR):c.587-11C>G
NM_005957.5(MTHFR):c.587-11C>T
NM_005957.5(MTHFR):c.587-12C>A
NM_005957.5(MTHFR):c.587-12C>T
NM_005957.5(MTHFR):c.587-14A>G
NM_005957.5(MTHFR):c.587-15C>T
NM_005957.5(MTHFR):c.587-19C>T
NM_005957.5(MTHFR):c.587-4G>A
NM_005957.5(MTHFR):c.587-7T>C rs775136816
NM_005957.5(MTHFR):c.587-8A>C
NM_005957.5(MTHFR):c.587-9T>C
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) rs776901659
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly)
NM_005957.5(MTHFR):c.594C>G (p.Pro198=) rs2100541366
NM_005957.5(MTHFR):c.603C>T (p.His201=) rs964885613
NM_005957.5(MTHFR):c.606C>G (p.Pro202=) rs13306554
NM_005957.5(MTHFR):c.60C>T (p.Ser20=)
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) rs779138021
NM_005957.5(MTHFR):c.621T>C (p.Phe207=)
NM_005957.5(MTHFR):c.624G>A (p.Glu208=) rs2100540661
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn)
NM_005957.5(MTHFR):c.638A>G (p.His213Arg)
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.651G>A (p.Lys217=) rs1644255213
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) rs1644255161
NM_005957.5(MTHFR):c.657T>G (p.Ser219=) rs2100539860
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val)
NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)
NM_005957.5(MTHFR):c.675C>T (p.Ile225=) rs1644254284
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val) rs773410203
NM_005957.5(MTHFR):c.678C>A (p.Ile226=)
NM_005957.5(MTHFR):c.681G>C (p.Thr227=) rs774825800
NM_005957.5(MTHFR):c.687T>C (p.Leu229=)
NM_005957.5(MTHFR):c.690C>T (p.Phe230=) rs2100539064
NM_005957.5(MTHFR):c.699T>C (p.Ala233=)
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser)
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys)
NM_005957.5(MTHFR):c.712del (p.Arg238fs)
NM_005957.5(MTHFR):c.714C>G (p.Arg238=)
NM_005957.5(MTHFR):c.717T>C (p.Phe239=)
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly)
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn)
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr)
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn) rs2100537636
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.5(MTHFR):c.774C>T (p.Pro258=) rs777367515
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)
NM_005957.5(MTHFR):c.780+11C>T
NM_005957.5(MTHFR):c.780+13G>A
NM_005957.5(MTHFR):c.780+16G>A
NM_005957.5(MTHFR):c.780+18G>T
NM_005957.5(MTHFR):c.780+1G>A
NM_005957.5(MTHFR):c.780+3G>A
NM_005957.5(MTHFR):c.780+8G>A rs771375720
NM_005957.5(MTHFR):c.781-10dup rs2100532208
NM_005957.5(MTHFR):c.781-13A>G
NM_005957.5(MTHFR):c.781-13A>T
NM_005957.5(MTHFR):c.781-14C>T
NM_005957.5(MTHFR):c.781-16C>G
NM_005957.5(MTHFR):c.781-1G>A
NM_005957.5(MTHFR):c.781-5G>A rs2100532176
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val) rs747665983
NM_005957.5(MTHFR):c.786C>T (p.Tyr262=) rs1644229819
NM_005957.5(MTHFR):c.78C>T (p.Ser26=)
NM_005957.5(MTHFR):c.790del (p.Ser264fs)
NM_005957.5(MTHFR):c.804T>C (p.Leu268=)
NM_005957.5(MTHFR):c.810G>A (p.Lys270=) rs755932312
NM_005957.5(MTHFR):c.828G>A (p.Val276=) rs2100531623
NM_005957.5(MTHFR):c.831A>G (p.Pro277=)
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)
NM_005957.5(MTHFR):c.840C>T (p.Ile280=)
NM_005957.5(MTHFR):c.843G>A (p.Lys281=) rs2100531529
NM_005957.5(MTHFR):c.849G>A (p.Val283=)
NM_005957.5(MTHFR):c.84T>C (p.Asp28=)
NM_005957.5(MTHFR):c.860_863del (p.Ile287fs) rs1644227167
NM_005957.5(MTHFR):c.863_864del (p.Lys288fs) rs1644227125
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) rs1644227005
NM_005957.5(MTHFR):c.872_875dup (p.Ala293fs)
NM_005957.5(MTHFR):c.87T>C (p.Ser29=) rs2100578276
NM_005957.5(MTHFR):c.891T>C (p.Tyr297=) rs367992906
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser)
NM_005957.5(MTHFR):c.897C>T (p.Ile299=)
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly)
NM_005957.5(MTHFR):c.906C>T (p.Ala302=) rs13306555
NM_005957.5(MTHFR):c.906del (p.Ala302_Val303insTer)
NM_005957.5(MTHFR):c.909G>A (p.Val303=) rs1570475497
NM_005957.5(MTHFR):c.913C>T (p.Leu305=) rs2100530817
NM_005957.5(MTHFR):c.915G>C (p.Leu305=) rs1308637124
NM_005957.5(MTHFR):c.915G>T (p.Leu305=)
NM_005957.5(MTHFR):c.927T>C (p.Leu309=)
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp)
NM_005957.5(MTHFR):c.934del (p.Ser312fs)
NM_005957.5(MTHFR):c.945G>A (p.Val315=)
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu)
NM_005957.5(MTHFR):c.954C>T (p.Leu318=) rs1335006530
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)
NM_005957.5(MTHFR):c.969C>G (p.Leu323=)
NM_005957.5(MTHFR):c.972C>T (p.Asn324=)
NM_005957.5(MTHFR):c.975C>T (p.Arg325=)
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln)
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.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
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.15C>T (p.Val5=) rs902026116
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.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.1A>T (p.Met1Leu)
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.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.273A>G (p.Arg91=)
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.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
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.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.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) rs1643666069
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
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.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.393A>C (p.Gln131His) rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter) rs2149323618
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
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.430-8C>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.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.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.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) 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.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.486G>A (p.Gly162=)
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.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.534del (p.Lys178fs) rs2149323872
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
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.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.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.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.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.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.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.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.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.651A>G (p.Glu217=) rs948189041
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.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.696C>G (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
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.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.729T>G (p.Pro243=) rs891106099
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.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.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
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.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.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.844C>A (p.Pro282Thr) rs1553163019
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.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.9G>A (p.Pro3=)
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.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.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.160C>A (p.Arg54=)
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.207T>C (p.Asp69=) rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
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.252C>T (p.Leu84=)
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.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.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.372+17A>G
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.373-4T>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.479-4G>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.566G>A (p.Trp189Ter)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
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.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.610-4G>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.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.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.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.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.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
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.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.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.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_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
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.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.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.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.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.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.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.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.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.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.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.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+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.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.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.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.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.916-7C>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.981-17T>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=)

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