ClinVar Miner

List of variants reported as likely benign for cerebellar ataxia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4384
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.75556260C>T rs115739052 0.01305
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) rs115786671 0.00346
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys) rs145195048 0.00217
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001379286.1(ZNF423):c.3875A>C (p.Gln1292Pro) rs150302551 0.00213
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00199
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) rs201259375 0.00198
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317 0.00181
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649 0.00179
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_001077418.3(TMEM231):c.-40C>G rs114889548 0.00177
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290 0.00177
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491 0.00175
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) rs34425379 0.00158
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) rs193231165 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00129
NM_001077418.3(TMEM231):c.583-20A>T rs375984875 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys) rs138745849 0.00125
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899 0.00118
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144 0.00114
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu) rs140359400 0.00104
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00101
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) rs181413894 0.00096
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) rs146127619 0.00093
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020 0.00088
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00081
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met) rs201616456 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_001379286.1(ZNF423):c.3300C>T (p.Cys1100=) rs147816446 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00070
NM_016373.4(WWOX):c.605+9T>A rs368853054 0.00069
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_001379286.1(ZNF423):c.2847G>A (p.Ser949=) rs147447763 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=) rs144904215 0.00061
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00061
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00059
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_182961.4(SYNE1):c.26001+8A>C rs145939118 0.00055
NM_016373.4(WWOX):c.957C>T (p.Asn319=) rs144417100 0.00054
NM_182961.4(SYNE1):c.3395+17C>T rs183904423 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.4461+15C>T rs757969745 0.00049
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) rs374601841 0.00048
NM_016373.4(WWOX):c.517-12C>T rs373188700 0.00047
NM_016373.4(WWOX):c.1203C>T (p.Ser401=) rs201428060 0.00046
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00041
NM_001077418.3(TMEM231):c.309+13C>A rs146945255 0.00041
NM_001379286.1(ZNF423):c.100+8C>T rs148101280 0.00041
NM_001379286.1(ZNF423):c.3516+14A>G rs201606291 0.00041
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys) rs149276791 0.00041
NM_182961.4(SYNE1):c.10146-19C>G rs372218555 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro) rs150918808 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_016373.4(WWOX):c.173-11T>C rs370729028 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_015046.7(SETX):c.638C>T (p.Ser213Phe) rs1254442456 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_001379286.1(ZNF423):c.100+10C>T rs374060172 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_182961.4(SYNE1):c.18973-18G>T rs146316647 0.00036
NM_182961.4(SYNE1):c.309+14A>G rs368595280 0.00036
NM_001379286.1(ZNF423):c.2400C>T (p.Thr800=) rs151102991 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys) rs144206837 0.00034
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00033
NM_001329943.3(KIAA0586):c.2554-9C>T rs202018500 0.00033
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_001379286.1(ZNF423):c.1113C>T (p.Ser371=) rs149688169 0.00032
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00031
NM_001329943.3(KIAA0586):c.3304+12A>G rs370645135 0.00031
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=) rs186937478 0.00031
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met) rs200825287 0.00031
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272 0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001379286.1(ZNF423):c.2541C>T (p.Asn847=) rs146659313 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) rs139175231 0.00029
NM_001379286.1(ZNF423):c.3165G>A (p.Ala1055=) rs146700251 0.00029
NM_001379286.1(ZNF423):c.3420C>T (p.Ala1140=) rs138555234 0.00029
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_016373.4(WWOX):c.552C>T (p.Leu184=) rs199715254 0.00029
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=) rs141883657 0.00029
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00028
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001329943.3(KIAA0586):c.1254-13T>C rs368443727 0.00027
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) rs147087785 0.00027
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001382391.1(CSPP1):c.1094-11C>T rs753835152 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00026
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=) rs148486281 0.00026
NM_001382391.1(CSPP1):c.1497-13T>C rs193022291 0.00025
NM_015046.7(SETX):c.6208+17G>A rs182144319 0.00025
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr) rs139190745 0.00025
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_001077418.3(TMEM231):c.139+42G>A rs375718217 0.00024
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737 0.00024
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) rs199962946 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His) rs80265744 0.00024
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His) rs200135486 0.00024
NM_182961.4(SYNE1):c.8550C>T (p.His2850=) rs140565986 0.00024
NM_001379286.1(ZNF423):c.1848C>T (p.Ser616=) rs376218086 0.00023
NM_001382391.1(CSPP1):c.2539-5T>C rs555281942 0.00023
NM_016464.5(TMEM138):c.128+7G>T rs560650147 0.00023
NM_182961.4(SYNE1):c.24977-1705G>A rs375931512 0.00023
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00022
NM_182961.4(SYNE1):c.1351-14A>T rs767941331 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.6230+17C>T rs200580133 0.00022
NM_182961.4(SYNE1):c.8433C>T (p.Asp2811=) rs375466040 0.00022
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684 0.00021
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) rs555609562 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.1392A>G (p.Ser464=) rs144164119 0.00021
NM_015046.7(SETX):c.900T>C (p.Leu300=) rs147938250 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.12006T>G (p.Leu4002=) rs143529882 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001077418.3(TMEM231):c.140-15C>T rs201518524 0.00019
NM_001077418.3(TMEM231):c.438+12C>T rs1000442477 0.00019
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) rs760162925 0.00019
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) rs767722181 0.00019
NM_015046.7(SETX):c.1464C>T (p.Ala488=) rs139275155 0.00019
NM_015046.7(SETX):c.3297T>C (p.Asp1099=) rs777404209 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_016373.4(WWOX):c.723G>A (p.Gln241=) rs191029309 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_182961.4(SYNE1):c.7238-11T>C rs200802315 0.00019
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=) rs139079964 0.00019
NM_016373.4(WWOX):c.1179G>A (p.Thr393=) rs376293017 0.00018
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln) rs201029723 0.00018
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) rs531527716 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292 0.00017
NM_182961.4(SYNE1):c.1463+9A>G rs368846118 0.00017
NM_182961.4(SYNE1):c.16084-14G>A rs372051077 0.00017
NM_182961.4(SYNE1):c.17020-20C>T rs558291255 0.00017
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr) rs201497427 0.00017
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=) rs371752653 0.00016
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) rs370408761 0.00016
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844 0.00016
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) rs780038095 0.00016
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_001378969.1(KCND3):c.1106+10C>T rs377267051 0.00016
NM_182961.4(SYNE1):c.24861C>T (p.His8287=) rs202207154 0.00016
NM_182961.4(SYNE1):c.5724C>T (p.Asp1908=) rs375222186 0.00016
NM_182961.4(SYNE1):c.9807+15G>A rs371593819 0.00016
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) rs747245461 0.00015
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00015
NM_001379286.1(ZNF423):c.1561G>A (p.Gly521Ser) rs201929999 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.7288-19C>T rs368143983 0.00015
NM_182961.4(SYNE1):c.19573-12G>C rs200455883 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.9927G>A (p.Pro3309=) rs140830584 0.00015
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln) rs369010440 0.00014
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00014
NM_001329943.3(KIAA0586):c.3528-12T>G rs553895000 0.00014
NM_001329943.3(KIAA0586):c.4495+3790C>T rs757410007 0.00014
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) rs370453605 0.00014
NM_001379286.1(ZNF423):c.615C>T (p.His205=) rs369646082 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=) rs375707429 0.00014
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=) rs144235226 0.00014
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=) rs369587906 0.00014
NM_182961.4(SYNE1):c.7029+15A>G rs757201043 0.00014
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) rs527907908 0.00013
NM_001382391.1(CSPP1):c.1245+15dup rs766672873 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_015046.7(SETX):c.3555G>A (p.Gln1185=) rs762171056 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=) rs372285648 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=) rs375826346 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001329943.3(KIAA0586):c.411-1476T>G rs768486087 0.00012
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val) rs199663609 0.00012
NM_001379286.1(ZNF423):c.1140C>T (p.Pro380=) rs370201380 0.00012
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) rs746724587 0.00012
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) rs369933035 0.00012
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) rs372836006 0.00012
NM_015046.7(SETX):c.7990C>T (p.Leu2664=) rs200826214 0.00012
NM_016464.5(TMEM138):c.414C>T (p.Ala138=) rs151094420 0.00012
NM_182961.4(SYNE1):c.14055G>A (p.Gln4685=) rs370890411 0.00012
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=) rs762050069 0.00012
NM_182961.4(SYNE1):c.1632+11C>T rs371323621 0.00012
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817 0.00012
NM_182961.4(SYNE1):c.21523-18G>T rs191367384 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_182961.4(SYNE1):c.4008+15T>C rs368542446 0.00012
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=) rs200222988 0.00012
NM_001077418.3(TMEM231):c.583-9G>A rs371734111 0.00011
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) rs780091990 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001379286.1(ZNF423):c.1275G>A (p.Arg425=) rs749841254 0.00011
NM_001379286.1(ZNF423):c.1893C>T (p.Ser631=) rs151294188 0.00011
NM_001379286.1(ZNF423):c.2106C>T (p.Cys702=) rs760404444 0.00011
NM_001379286.1(ZNF423):c.3099C>T (p.Cys1033=) rs772683449 0.00011
NM_001379286.1(ZNF423):c.492C>T (p.His164=) rs550048605 0.00011
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) rs548142175 0.00011
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp) rs775112319 0.00011
NM_015046.7(SETX):c.5941C>T (p.Leu1981=) rs373324070 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_016373.4(WWOX):c.420C>T (p.Thr140=) rs374644172 0.00011
NM_016373.4(WWOX):c.786C>T (p.Ser262=) rs376709568 0.00011
NM_016464.5(TMEM138):c.465G>A (p.Lys155=) rs141851191 0.00011
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val) rs199668467 0.00011
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902 0.00011
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=) rs184264920 0.00011
NM_182961.4(SYNE1):c.17203-6T>C rs1589744380 0.00011
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=) rs377302991 0.00011
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=) rs373129942 0.00011
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00011
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_182961.4(SYNE1):c.9009+14C>T rs370240234 0.00011
NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=) rs377001681 0.00011
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=) rs776394371 0.00011
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526 0.00010
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272 0.00010
NM_001379286.1(ZNF423):c.321A>G (p.Gln107=) rs376572236 0.00010
NM_001379286.1(ZNF423):c.642C>T (p.Ser214=) rs576666121 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.7926G>A (p.Glu2642=) rs147986724 0.00010
NM_016373.4(WWOX):c.1170C>T (p.Ser390=) rs372635911 0.00010
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=) rs375949615 0.00010
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=) rs138307449 0.00010
NM_182961.4(SYNE1):c.14956-14T>C rs368344443 0.00010
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=) rs143416387 0.00010
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=) rs148994723 0.00010
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217 0.00010
NM_182961.4(SYNE1):c.20068-15A>C rs368904376 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.23791-7C>T rs375558499 0.00010
NM_182961.4(SYNE1):c.7767C>T (p.His2589=) rs149165706 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=) rs184006845 0.00010
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=) rs1426398337 0.00009
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=) rs751840699 0.00009
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535 0.00009
NM_001329943.3(KIAA0586):c.3859-17C>T rs764917881 0.00009
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) rs750833160 0.00009
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814 0.00009
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) rs550354835 0.00009
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=) rs760817061 0.00009
NM_001378969.1(KCND3):c.1766+3G>A rs748524463 0.00009
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) rs751347311 0.00009
NM_001379286.1(ZNF423):c.3654G>A (p.Pro1218=) rs376719006 0.00009
NM_001379286.1(ZNF423):c.519G>A (p.Pro173=) rs374152933 0.00009
NM_001382391.1(CSPP1):c.1697+19G>T rs563103826 0.00009
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) rs755021253 0.00009
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) rs763639767 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) rs188917565 0.00009
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) rs145635985 0.00009
NM_015046.7(SETX):c.1065C>T (p.Ile355=) rs376107422 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015046.7(SETX):c.7770C>T (p.Pro2590=) rs532828022 0.00009
NM_015046.7(SETX):c.78G>A (p.Pro26=) rs139972421 0.00009
NM_016464.5(TMEM138):c.129-4A>G rs372877379 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_182961.4(SYNE1):c.130-17C>T rs569421654 0.00009
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser) rs199827801 0.00009
NM_182961.4(SYNE1):c.13917C>T (p.Ser4639=) rs753598358 0.00009
NM_182961.4(SYNE1):c.14955+8T>C rs563400584 0.00009
NM_182961.4(SYNE1):c.15294-17T>C rs116949486 0.00009
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=) rs377427003 0.00009
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=) rs201221147 0.00009
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=) rs148606479 0.00009
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=) rs368864479 0.00009
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=) rs201537074 0.00009
NM_182961.4(SYNE1):c.22495-10T>A rs528364885 0.00009
NM_182961.4(SYNE1):c.24129+8A>G rs377056257 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_182961.4(SYNE1):c.24977-5C>T rs767722883 0.00009
NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=) rs374755363 0.00009
NM_182961.4(SYNE1):c.4789-14C>T rs769876215 0.00009
NM_182961.4(SYNE1):c.5101-11G>T rs375142982 0.00009
NM_182961.4(SYNE1):c.6093C>T (p.His2031=) rs150072383 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His) rs200658991 0.00009
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00008
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) rs190675549 0.00008
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) rs368984896 0.00008
NM_001329943.3(KIAA0586):c.962-14A>T rs200528557 0.00008
NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=) rs761266231 0.00008
NM_001379286.1(ZNF423):c.100+11G>A rs547602124 0.00008
NM_001379286.1(ZNF423):c.2244G>A (p.Ala748=) rs186112147 0.00008
NM_001379286.1(ZNF423):c.2331C>G (p.Val777=) rs769322435 0.00008
NM_001379286.1(ZNF423):c.2517T>C (p.Cys839=) rs761360598 0.00008
NM_001379286.1(ZNF423):c.2649C>T (p.Ser883=) rs781131703 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.2865T>C (p.Asp955=) rs368932478 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=) rs372205287 0.00008
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=) rs754642929 0.00008
NM_182961.4(SYNE1):c.18574-8A>C rs749921940 0.00008
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=) rs780644969 0.00008
NM_182961.4(SYNE1):c.23019+8C>A rs760060099 0.00008
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=) rs776288515 0.00008
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=) rs370645510 0.00008
NM_182961.4(SYNE1):c.6102A>G (p.Glu2034=) rs752482336 0.00008
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001077418.3(TMEM231):c.310-17C>T rs752375895 0.00007
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=) rs368594302 0.00007
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898 0.00007
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) rs199623501 0.00007
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) rs534407882 0.00007
NM_001329943.3(KIAA0586):c.962-15A>C rs767414174 0.00007
NM_001379286.1(ZNF423):c.1368C>T (p.Asp456=) rs146274919 0.00007
NM_001379286.1(ZNF423):c.2058G>A (p.Leu686=) rs201624375 0.00007
NM_001379286.1(ZNF423):c.3117C>A (p.Ser1039=) rs748563808 0.00007
NM_001379286.1(ZNF423):c.3618C>T (p.His1206=) rs137880959 0.00007
NM_001379286.1(ZNF423):c.363G>A (p.Ala121=) rs369376307 0.00007
NM_001379286.1(ZNF423):c.3720C>T (p.Pro1240=) rs200322057 0.00007
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) rs539302524 0.00007
NM_015046.7(SETX):c.4353A>G (p.Val1451=) rs771367273 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=) rs372703745 0.00007
NM_016373.4(WWOX):c.951G>A (p.Thr317=) rs759801417 0.00007
NM_182961.4(SYNE1):c.12399A>G (p.Glu4133=) rs368597714 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys) rs187403476 0.00007
NM_182961.4(SYNE1):c.1632+12G>T rs765558597 0.00007
NM_182961.4(SYNE1):c.17347-6C>T rs201692248 0.00007
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=) rs143490673 0.00007
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=) rs942245024 0.00007
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=) rs202172980 0.00007
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=) rs376651419 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=) rs375111758 0.00007
NM_182961.4(SYNE1):c.2569-7G>A rs372744173 0.00007
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=) rs1014746277 0.00007
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_182961.4(SYNE1):c.6231-8C>T rs777108375 0.00007
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001077418.3(TMEM231):c.210G>T (p.Val70=) rs757361739 0.00006
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=) rs776287219 0.00006
NM_001077418.3(TMEM231):c.665-19G>A rs200581224 0.00006
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) rs371990780 0.00006
NM_001329943.3(KIAA0586):c.2060-17A>T rs753287970 0.00006
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) rs755369049 0.00006
NM_001329943.3(KIAA0586):c.411-1365C>T rs905321611 0.00006
NM_001329943.3(KIAA0586):c.4496-3801G>A rs575409268 0.00006
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) rs370332963 0.00006
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) rs552791846 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.651G>A (p.Pro217=) rs186974111 0.00006
NM_001379286.1(ZNF423):c.1224C>T (p.Asp408=) rs372206769 0.00006
NM_001379286.1(ZNF423):c.2211C>T (p.Phe737=) rs138278000 0.00006
NM_001379286.1(ZNF423):c.2283G>A (p.Thr761=) rs758301410 0.00006
NM_001379286.1(ZNF423):c.2640T>C (p.His880=) rs200880737 0.00006
NM_001379286.1(ZNF423):c.2877G>A (p.Thr959=) rs201950383 0.00006
NM_001379286.1(ZNF423):c.3378C>T (p.Ala1126=) rs148173134 0.00006
NM_001379286.1(ZNF423):c.3690C>T (p.Phe1230=) rs371710780 0.00006
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) rs370123119 0.00006
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) rs368660068 0.00006
NM_015046.7(SETX):c.1497G>A (p.Ala499=) rs142936332 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe) rs370551247 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.2994C>T (p.Phe998=) rs534579992 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg) rs202204341 0.00006
NM_015046.7(SETX):c.5274+8T>C rs369501754 0.00006
NM_015046.7(SETX):c.5616C>T (p.Asn1872=) rs201472554 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_016373.4(WWOX):c.840C>G (p.Leu280=) rs772356641 0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=) rs149327827 0.00006
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.10300-6C>T rs762645232 0.00006
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=) rs377049622 0.00006
NM_182961.4(SYNE1):c.10935C>T (p.His3645=) rs201704617 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=) rs774395991 0.00006
NM_182961.4(SYNE1):c.19693-15G>A rs187885923 0.00006
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln) rs190673256 0.00006
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=) rs375649094 0.00006
NM_182961.4(SYNE1):c.21657-20G>C rs369177487 0.00006
NM_182961.4(SYNE1):c.22589+18T>C rs200821668 0.00006
NM_182961.4(SYNE1):c.22590-17A>G rs756803477 0.00006
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=) rs140577642 0.00006
NM_182961.4(SYNE1):c.23874C>T (p.Asp7958=) rs749141262 0.00006
NM_182961.4(SYNE1):c.2893-14C>T rs914254176 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=) rs966425412 0.00006
NM_182961.4(SYNE1):c.4749T>A (p.Ser1583=) rs201761581 0.00006
NM_182961.4(SYNE1):c.581+7A>G rs367617527 0.00006
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=) rs533039765 0.00006
NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=) rs199965276 0.00006
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00006
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00006
NM_182961.4(SYNE1):c.8488-15T>G rs754541640 0.00006
NM_182961.4(SYNE1):c.8652+14C>T rs761672973 0.00006
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=) rs140123292 0.00006
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) rs150091721 0.00005
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00005
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn) rs751280804 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) rs780332239 0.00005
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00005
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=) rs769897831 0.00005
NM_001329943.3(KIAA0586):c.411-1495T>C rs1364313825 0.00005
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) rs200906427 0.00005
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) rs762154780 0.00005
NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=) rs748728165 0.00005
NM_001379286.1(ZNF423):c.1323C>T (p.His441=) rs777932033 0.00005
NM_001379286.1(ZNF423):c.1401C>T (p.His467=) rs370346450 0.00005
NM_001379286.1(ZNF423):c.1845G>A (p.Ser615=) rs61755181 0.00005
NM_001379286.1(ZNF423):c.2442G>A (p.Lys814=) rs199874154 0.00005
NM_001379286.1(ZNF423):c.2475C>T (p.His825=) rs201076539 0.00005
NM_001379286.1(ZNF423):c.2703G>A (p.Ala901=) rs140000430 0.00005
NM_001379286.1(ZNF423):c.2949C>T (p.Thr983=) rs748840936 0.00005
NM_001379286.1(ZNF423):c.3021C>T (p.Ser1007=) rs199536152 0.00005
NM_001379286.1(ZNF423):c.3543C>T (p.Cys1181=) rs373620289 0.00005
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) rs375241191 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.7164G>C (p.Thr2388=) rs368602563 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.807G>A (p.Ser269=) rs147677608 0.00005
NM_016373.4(WWOX):c.1077C>T (p.Thr359=) rs150912992 0.00005
NM_016373.4(WWOX):c.231-9T>C rs766689304 0.00005
NM_016373.4(WWOX):c.315A>G (p.Gln105=) rs752822745 0.00005
NM_016373.4(WWOX):c.324C>T (p.Asp108=) rs377442022 0.00005
NM_016373.4(WWOX):c.630C>T (p.Asn210=) rs547619401 0.00005
NM_016373.4(WWOX):c.867G>A (p.Ala289=) rs755002954 0.00005
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_182961.4(SYNE1):c.1048-4T>C rs894164368 0.00005
NM_182961.4(SYNE1):c.12794+19T>C rs770394935 0.00005
NM_182961.4(SYNE1):c.15917+10C>T rs1434685633 0.00005
NM_182961.4(SYNE1):c.16572+11C>T rs181304168 0.00005
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787 0.00005
NM_182961.4(SYNE1):c.21862-5T>C rs773382528 0.00005
NM_182961.4(SYNE1):c.23664G>A (p.Gln7888=) rs375008462 0.00005
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258 0.00005
NM_182961.4(SYNE1):c.25459-7T>G rs367972414 0.00005
NM_182961.4(SYNE1):c.310-459A>G rs371580053 0.00005
NM_182961.4(SYNE1):c.3303T>C (p.Cys1101=) rs369863768 0.00005
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=) rs372832470 0.00005
NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=) rs1401669271 0.00005
NM_182961.4(SYNE1):c.6231-12T>C rs370687503 0.00005
NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=) rs769033712 0.00005
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1185-15T>C rs117727806 0.00004
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) rs921885901 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) rs186812403 0.00004
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00004
NM_001077418.3(TMEM231):c.139+27C>T rs773052053 0.00004
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=) rs760694007 0.00004
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=) rs778118263 0.00004
NM_001077418.3(TMEM231):c.309+12C>A rs561475784 0.00004
NM_001077418.3(TMEM231):c.665-10T>C rs201237881 0.00004
NM_001077418.3(TMEM231):c.759G>A (p.Val253=) rs1020757759 0.00004
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) rs750393862 0.00004
NM_001329943.3(KIAA0586):c.1885-11T>C rs1344938086 0.00004
NM_001329943.3(KIAA0586):c.271-11A>G rs752733321 0.00004
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) rs369590767 0.00004
NM_001329943.3(KIAA0586):c.3528-20A>G rs759897107 0.00004
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) rs377467641 0.00004
NM_001329943.3(KIAA0586):c.3858+10G>A rs1023641988 0.00004
NM_001329943.3(KIAA0586):c.4430-6dup rs755622220 0.00004
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999 0.00004
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) rs369143869 0.00004
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) rs373333959 0.00004
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=) rs533201615 0.00004
NM_001378969.1(KCND3):c.1269+18G>A rs372005674 0.00004
NM_001378969.1(KCND3):c.519C>T (p.Phe173=) rs144600384 0.00004
NM_001378969.1(KCND3):c.618G>A (p.Pro206=) rs200611538 0.00004
NM_001379286.1(ZNF423):c.1017G>A (p.Gln339=) rs779613521 0.00004
NM_001379286.1(ZNF423):c.126C>T (p.Cys42=) rs139517505 0.00004
NM_001379286.1(ZNF423):c.1494C>T (p.Ala498=) rs34742420 0.00004
NM_001379286.1(ZNF423):c.1536C>T (p.Cys512=) rs373756871 0.00004
NM_001379286.1(ZNF423):c.2115C>T (p.Cys705=) rs141743740 0.00004
NM_001379286.1(ZNF423):c.2214C>T (p.Asp738=) rs147043161 0.00004
NM_001379286.1(ZNF423):c.222T>C (p.Ile74=) rs143895442 0.00004
NM_001379286.1(ZNF423):c.2658C>T (p.Asp886=) rs149969492 0.00004
NM_001379286.1(ZNF423):c.2664C>T (p.Asp888=) rs376264701 0.00004
NM_001379286.1(ZNF423):c.2670G>A (p.Ser890=) rs369348426 0.00004
NM_001379286.1(ZNF423):c.2853C>T (p.Asn951=) rs369438876 0.00004
NM_001379286.1(ZNF423):c.3327C>T (p.Asn1109=) rs200411543 0.00004
NM_001379286.1(ZNF423):c.3360C>T (p.Pro1120=) rs372366526 0.00004
NM_001379286.1(ZNF423):c.3363C>T (p.Ala1121=) rs374683537 0.00004
NM_001379286.1(ZNF423):c.3468G>A (p.Pro1156=) rs144663962 0.00004
NM_001379286.1(ZNF423):c.3504G>A (p.Ser1168=) rs200335668 0.00004
NM_001379286.1(ZNF423):c.3582C>T (p.His1194=) rs149068296 0.00004
NM_001379286.1(ZNF423):c.3849+17G>A rs780167797 0.00004
NM_001379286.1(ZNF423):c.40+33082T>A rs556089941 0.00004
NM_001379286.1(ZNF423):c.657C>A (p.Ile219=) rs143251911 0.00004
NM_001379286.1(ZNF423):c.912G>A (p.Gln304=) rs147427609 0.00004
NM_001379286.1(ZNF423):c.957C>T (p.Leu319=) rs953150260 0.00004
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) rs755838311 0.00004
NM_001382391.1(CSPP1):c.1619-4T>C rs774722380 0.00004
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) rs754822898 0.00004
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) rs201940935 0.00004
NM_001382391.1(CSPP1):c.2128+16T>G rs770694705 0.00004
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) rs754377738 0.00004
NM_001382391.1(CSPP1):c.2829-6C>A rs202184488 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.484-4A>G rs142440392 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly) rs764538703 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala) rs956812554 0.00004
NM_015046.7(SETX):c.3810G>A (p.Pro1270=) rs753022992 0.00004
NM_015046.7(SETX):c.399T>C (p.Cys133=) rs779515782 0.00004
NM_015046.7(SETX):c.4323G>A (p.Gln1441=) rs180992608 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.5814A>G (p.Gln1938=) rs143868969 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6546+10C>T rs571194790 0.00004
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00004
NM_015046.7(SETX):c.7200-15T>C rs754019832 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.7809C>T (p.Pro2603=) rs766063614 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) rs780939546 0.00004
NM_016373.4(WWOX):c.114C>T (p.Thr38=) rs372635270 0.00004
NM_016373.4(WWOX):c.231-11C>G rs372011945 0.00004
NM_016373.4(WWOX):c.321C>T (p.Tyr107=) rs373306276 0.00004
NM_016373.4(WWOX):c.517-10C>G rs199820033 0.00004
NM_016373.4(WWOX):c.605+20G>A rs372217196 0.00004
NM_016373.4(WWOX):c.739T>C (p.Leu247=) rs1195368309 0.00004
NM_016373.4(WWOX):c.798A>C (p.Thr266=) rs377727422 0.00004
NM_016373.4(WWOX):c.855C>T (p.Asn285=) rs767903006 0.00004
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.12099C>T (p.His4033=) rs375862387 0.00004
NM_182961.4(SYNE1):c.12436C>T (p.Leu4146=) rs777433973 0.00004
NM_182961.4(SYNE1):c.1428A>G (p.Pro476=) rs778574491 0.00004
NM_182961.4(SYNE1):c.1458C>T (p.Ala486=) rs373091521 0.00004
NM_182961.4(SYNE1):c.14976T>C (p.Tyr4992=) rs935200376 0.00004
NM_182961.4(SYNE1):c.1497C>T (p.His499=) rs758555741 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.15510G>A (p.Glu5170=) rs763638514 0.00004
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=) rs779112403 0.00004
NM_182961.4(SYNE1):c.1632+6T>C rs758756977 0.00004
NM_182961.4(SYNE1):c.16350G>A (p.Ala5450=) rs768673070 0.00004
NM_182961.4(SYNE1):c.16390-11T>C rs765234446 0.00004
NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=) rs752995421 0.00004
NM_182961.4(SYNE1):c.1737A>G (p.Glu579=) rs199673388 0.00004
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=) rs1022996215 0.00004
NM_182961.4(SYNE1):c.18815+16C>T rs369215013 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=) rs147173664 0.00004
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=) rs768886911 0.00004
NM_182961.4(SYNE1):c.22044+11C>G rs751070924 0.00004
NM_182961.4(SYNE1):c.22164A>G (p.Thr7388=) rs774480374 0.00004
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=) rs200800604 0.00004
NM_182961.4(SYNE1):c.23589C>T (p.Asn7863=) rs753421656 0.00004
NM_182961.4(SYNE1):c.23742C>T (p.Tyr7914=) rs781192759 0.00004
NM_182961.4(SYNE1):c.24130-7G>T rs368697044 0.00004
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=) rs368201364 0.00004
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=) rs766320378 0.00004
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=) rs369691475 0.00004
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=) rs770690488 0.00004
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=) rs201891399 0.00004
NM_182961.4(SYNE1):c.2893-13C>T rs148337270 0.00004
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=) rs201752079 0.00004
NM_182961.4(SYNE1):c.3435A>T (p.Thr1145=) rs759359527 0.00004
NM_182961.4(SYNE1):c.3525C>T (p.Thr1175=) rs761360867 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_182961.4(SYNE1):c.6537G>A (p.Leu2179=) rs138725794 0.00004
NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=) rs901474571 0.00004
NM_182961.4(SYNE1):c.7755T>C (p.Ser2585=) rs759690937 0.00004
NM_182961.4(SYNE1):c.780C>T (p.Asp260=) rs376480815 0.00004
NM_182961.4(SYNE1):c.8169C>T (p.His2723=) rs371449580 0.00004
NM_182961.4(SYNE1):c.8653-19T>C rs376539357 0.00004
NM_182961.4(SYNE1):c.9651+19C>T rs543352190 0.00004
NM_182961.4(SYNE1):c.9834C>T (p.Ile3278=) rs142241062 0.00004
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) rs1039198612 0.00003
NM_000784.4(CYP27A1):c.447-10G>A rs756808196 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 0.00003
NM_000784.4(CYP27A1):c.844+20G>A rs200698553 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523 0.00003
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=) rs879874108 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=) rs534627748 0.00003
NM_001077418.3(TMEM231):c.771-4A>C rs199768195 0.00003
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=) rs1412070252 0.00003
NM_001329943.3(KIAA0586):c.1656+4T>C rs368165741 0.00003
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) rs1356132325 0.00003
NM_001329943.3(KIAA0586):c.2944+13G>T rs377092455 0.00003
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) rs749756433 0.00003
NM_001329943.3(KIAA0586):c.3781+20T>G rs770866188 0.00003
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) rs768806838 0.00003
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) rs1247179970 0.00003
NM_001378969.1(KCND3):c.1524C>T (p.His508=) rs765916708 0.00003
NM_001378969.1(KCND3):c.339C>T (p.Ala113=) rs371366472 0.00003
NM_001378969.1(KCND3):c.693G>C (p.Thr231=) rs749849320 0.00003
NM_001379286.1(ZNF423):c.1149C>T (p.Ser383=) rs375403632 0.00003
NM_001379286.1(ZNF423):c.1230G>A (p.Gln410=) rs201769739 0.00003
NM_001379286.1(ZNF423):c.2763G>A (p.Pro921=) rs571689478 0.00003
NM_001379286.1(ZNF423):c.3177G>A (p.Ala1059=) rs764307309 0.00003
NM_001379286.1(ZNF423):c.3303C>T (p.Ala1101=) rs201584755 0.00003
NM_001379286.1(ZNF423):c.3561C>T (p.Asn1187=) rs76199401 0.00003
NM_001379286.1(ZNF423):c.3702C>T (p.Gly1234=) rs766215720 0.00003
NM_001379286.1(ZNF423):c.3840C>T (p.Thr1280=) rs779049571 0.00003
NM_001379286.1(ZNF423):c.426G>A (p.Thr142=) rs1040242592 0.00003
NM_001379286.1(ZNF423):c.942C>T (p.Asp314=) rs182494771 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.1698-15G>A rs777747860 0.00003
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) rs755593188 0.00003
NM_001382391.1(CSPP1):c.2711-15A>G rs756159198 0.00003
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_015046.7(SETX):c.1099-7A>G rs764675117 0.00003
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342 0.00003
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu) rs1338284039 0.00003
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly) rs1400027699 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu) rs557074957 0.00003
NM_015046.7(SETX):c.389-16A>G rs200380642 0.00003
NM_015046.7(SETX):c.396A>G (p.Leu132=) rs375232867 0.00003
NM_015046.7(SETX):c.4338G>A (p.Val1446=) rs777058489 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=) rs768582274 0.00003
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=) rs777886975 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.6276T>C (p.Asp2092=) rs759395503 0.00003
NM_015046.7(SETX):c.6396+16G>A rs369168525 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6453C>T (p.Ile2151=) rs150599672 0.00003
NM_015046.7(SETX):c.6762C>T (p.Leu2254=) rs1225106822 0.00003
NM_015046.7(SETX):c.6843-5T>A rs943904959 0.00003
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp) rs1490101518 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_016373.4(WWOX):c.1029C>G (p.Thr343=) rs752273047 0.00003
NM_016373.4(WWOX):c.606-9A>G rs370129950 0.00003
NM_016373.4(WWOX):c.636A>C (p.Ala212=) rs1201180702 0.00003
NM_016373.4(WWOX):c.912C>T (p.Ser304=) rs745464578 0.00003
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=) rs767967824 0.00003
NM_182961.4(SYNE1):c.11902-15G>A rs777796940 0.00003
NM_182961.4(SYNE1):c.12114C>T (p.His4038=) rs200294294 0.00003
NM_182961.4(SYNE1):c.12471G>A (p.Lys4157=) rs1014589530 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.13458A>G (p.Pro4486=) rs998856849 0.00003
NM_182961.4(SYNE1):c.13896G>A (p.Ser4632=) rs1371756749 0.00003
NM_182961.4(SYNE1):c.14103C>T (p.Pro4701=) rs772247507 0.00003
NM_182961.4(SYNE1):c.15063T>C (p.Asn5021=) rs1376958261 0.00003
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=) rs746436040 0.00003
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=) rs750155092 0.00003
NM_182961.4(SYNE1):c.16026G>A (p.Thr5342=) rs776275832 0.00003
NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=) rs150928921 0.00003
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=) rs769954729 0.00003
NM_182961.4(SYNE1):c.17577G>A (p.Pro5859=) rs375662583 0.00003
NM_182961.4(SYNE1):c.18013-16A>G rs1057523334 0.00003
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=) rs758953542 0.00003
NM_182961.4(SYNE1):c.18609C>T (p.Asp6203=) rs577804095 0.00003
NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=) rs373495185 0.00003
NM_182961.4(SYNE1):c.19083C>T (p.Ala6361=) rs374088995 0.00003
NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=) rs372723292 0.00003
NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=) rs749942439 0.00003
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00003
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=) rs370065996 0.00003
NM_182961.4(SYNE1):c.21862-19A>T rs200421014 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.23302-8C>T rs376491803 0.00003
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=) rs185088779 0.00003
NM_182961.4(SYNE1):c.24390G>A (p.Gln8130=) rs768084185 0.00003
NM_182961.4(SYNE1):c.2475G>A (p.Thr825=) rs758181903 0.00003
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=) rs781435849 0.00003
NM_182961.4(SYNE1):c.310-449A>T rs759834506 0.00003
NM_182961.4(SYNE1):c.3429T>C (p.Asn1143=) rs142372677 0.00003
NM_182961.4(SYNE1):c.3480C>T (p.His1160=) rs757238055 0.00003
NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=) rs753027544 0.00003
NM_182961.4(SYNE1):c.581+17T>G rs747720370 0.00003
NM_182961.4(SYNE1):c.581+8T>C rs772647830 0.00003
NM_182961.4(SYNE1):c.6382-11T>C rs769649824 0.00003
NM_182961.4(SYNE1):c.6522C>T (p.Thr2174=) rs202207841 0.00003
NM_182961.4(SYNE1):c.7878C>T (p.His2626=) rs138196409 0.00003
NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=) rs368356217 0.00003
NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=) rs149317945 0.00003
NM_182961.4(SYNE1):c.9114A>G (p.Gly3038=) rs754978329 0.00003
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=) rs1020832262 0.00003
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931 0.00002
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) rs1229201370 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001077418.3(TMEM231):c.140-35C>T rs750621210 0.00002
NM_001077418.3(TMEM231):c.309+20G>T rs1186787656 0.00002
NM_001077418.3(TMEM231):c.456G>A (p.Val152=) rs571562822 0.00002
NM_001077418.3(TMEM231):c.582+9G>A rs1266194059 0.00002
NM_001244189.2(KIAA0586):c.9+14C>T rs1036728165 0.00002
NM_001329943.3(KIAA0586):c.1130-14C>G rs1457711769 0.00002
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141 0.00002
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) rs769869324 0.00002
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) rs1031513625 0.00002
NM_001329943.3(KIAA0586):c.3782-18T>C rs1430875009 0.00002
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) rs113191202 0.00002
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) rs1375416810 0.00002
NM_001329943.3(KIAA0586):c.4169-8G>C rs766302985 0.00002
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=) rs148320813 0.00002
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=) rs17215451 0.00002
NM_001378969.1(KCND3):c.1519-5C>T rs376408039 0.00002
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=) rs771385731 0.00002
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=) rs181971539 0.00002
NM_001378969.1(KCND3):c.318G>A (p.Pro106=) rs770807162 0.00002
NM_001378969.1(KCND3):c.321C>A (p.Arg107=) rs746952612 0.00002
NM_001378969.1(KCND3):c.348C>T (p.Asp116=) rs756600533 0.00002
NM_001378969.1(KCND3):c.576C>T (p.Phe192=) rs759120826 0.00002
NM_001378969.1(KCND3):c.879C>T (p.Arg293=) rs147739517 0.00002
NM_001378969.1(KCND3):c.9C>T (p.Ala3=) rs777097802 0.00002
NM_001379286.1(ZNF423):c.1257C>T (p.Cys419=) rs776280246 0.00002
NM_001379286.1(ZNF423):c.147G>A (p.Ala49=) rs566780634 0.00002
NM_001379286.1(ZNF423):c.1524C>T (p.Arg508=) rs756062396 0.00002
NM_001379286.1(ZNF423):c.1749C>A (p.Gly583=) rs781209503 0.00002
NM_001379286.1(ZNF423):c.1839A>G (p.Pro613=) rs995462604 0.00002
NM_001379286.1(ZNF423):c.1935C>T (p.Cys645=) rs144950533 0.00002
NM_001379286.1(ZNF423):c.231C>T (p.Cys77=) rs767825226 0.00002
NM_001379286.1(ZNF423):c.273G>A (p.Thr91=) rs762110313 0.00002
NM_001379286.1(ZNF423):c.2832A>G (p.Ser944=) rs771821915 0.00002
NM_001379286.1(ZNF423):c.2943G>A (p.Thr981=) rs768277837 0.00002
NM_001379286.1(ZNF423):c.3084C>T (p.Phe1028=) rs747583543 0.00002
NM_001379286.1(ZNF423):c.3222C>T (p.Cys1074=) rs748651721 0.00002
NM_001379286.1(ZNF423):c.3252G>A (p.Lys1084=) rs371197547 0.00002
NM_001379286.1(ZNF423):c.3321C>T (p.Ser1107=) rs545010534 0.00002
NM_001379286.1(ZNF423):c.339G>A (p.Ser113=) rs191436768 0.00002
NM_001379286.1(ZNF423):c.3850-15T>G rs777569372 0.00002
NM_001379286.1(ZNF423):c.3876G>A (p.Gln1292=) rs763108153 0.00002
NM_001379286.1(ZNF423):c.40+33073G>C rs781136140 0.00002
NM_001379286.1(ZNF423):c.939C>T (p.Val313=) rs764527468 0.00002
NM_001382391.1(CSPP1):c.-10-4A>T rs762753703 0.00002
NM_001382391.1(CSPP1):c.-96C>T rs751458139 0.00002
NM_001382391.1(CSPP1):c.1188-16del rs773422166 0.00002
NM_001382391.1(CSPP1):c.1618+16G>A rs768004861 0.00002
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) rs762725926 0.00002
NM_001382391.1(CSPP1):c.2128+10C>A rs769248386 0.00002
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) rs758218835 0.00002
NM_001382391.1(CSPP1):c.2392-14T>C rs781185001 0.00002
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) rs759957152 0.00002
NM_001382391.1(CSPP1):c.2968+10T>C rs374325149 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.483+10G>C rs758310938 0.00002
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) rs1395679668 0.00002
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) rs759906585 0.00002
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) rs750069772 0.00002
NM_015046.7(SETX):c.1099-12C>A rs752063617 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.3450A>G (p.Glu1150=) rs771495291 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala) rs759653127 0.00002
NM_015046.7(SETX):c.4683G>C (p.Gln1561His) rs772991134 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5502C>T (p.His1834=) rs117410554 0.00002
NM_015046.7(SETX):c.5859A>G (p.Pro1953=) rs1423165535 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.867G>A (p.Ala289=) rs769799706 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_015046.7(SETX):c.963C>T (p.Asn321=) rs750254836 0.00002
NM_016373.4(WWOX):c.1057-4C>T rs555716977 0.00002
NM_016373.4(WWOX):c.172+19A>G rs1198975338 0.00002
NM_016373.4(WWOX):c.183C>T (p.Tyr61=) rs759766243 0.00002
NM_016373.4(WWOX):c.210C>T (p.Asn70=) rs762102064 0.00002
NM_016373.4(WWOX):c.414C>T (p.Phe138=) rs767693780 0.00002
NM_016373.4(WWOX):c.453G>A (p.Val151=) rs375649496 0.00002
NM_016373.4(WWOX):c.555T>C (p.Ala185=) rs748722105 0.00002
NM_016373.4(WWOX):c.651C>G (p.Pro217=) rs746893085 0.00002
NM_016373.4(WWOX):c.791+14G>A rs753689854 0.00002
NM_016373.4(WWOX):c.792-6T>G rs771690273 0.00002
NM_016373.4(WWOX):c.792-9A>G rs376320385 0.00002
NM_016373.4(WWOX):c.836G>A (p.Arg279His) rs748534396 0.00002
NM_016373.4(WWOX):c.933C>G (p.Leu311=) rs757508300 0.00002
NM_016373.4(WWOX):c.942C>T (p.Arg314=) rs568012503 0.00002
NM_016464.5(TMEM138):c.128+8C>T rs769334895 0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=) rs199841349 0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=) rs781330063 0.00002
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_182961.4(SYNE1):c.114C>T (p.Asn38=) rs150562892 0.00002
NM_182961.4(SYNE1):c.123G>A (p.Leu41=) rs757646961 0.00002
NM_182961.4(SYNE1):c.12529-11T>G rs886977669 0.00002
NM_182961.4(SYNE1):c.1305C>T (p.His435=) rs539575253 0.00002
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00002
NM_182961.4(SYNE1):c.13299C>T (p.His4433=) rs763090658 0.00002
NM_182961.4(SYNE1):c.14349C>T (p.His4783=) rs767810691 0.00002
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=) rs761249756 0.00002
NM_182961.4(SYNE1):c.15918C>T (p.Asn5306=) rs1354133843 0.00002
NM_182961.4(SYNE1):c.15942T>C (p.Asn5314=) rs555697165 0.00002
NM_182961.4(SYNE1):c.16167T>C (p.Tyr5389=) rs200796273 0.00002
NM_182961.4(SYNE1):c.16198T>C (p.Leu5400=) rs541916760 0.00002
NM_182961.4(SYNE1):c.16237-13del rs758437735 0.00002
NM_182961.4(SYNE1):c.16897-13A>G rs754825945 0.00002
NM_182961.4(SYNE1):c.17847T>C (p.Asn5949=) rs755030815 0.00002
NM_182961.4(SYNE1):c.17850+19del rs1362611063 0.00002
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=) rs558367406 0.00002
NM_182961.4(SYNE1):c.18507G>A (p.Leu6169=) rs1194007387 0.00002
NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=) rs754877966 0.00002
NM_182961.4(SYNE1):c.18633C>T (p.Gly6211=) rs755740458 0.00002
NM_182961.4(SYNE1):c.19471-17G>A rs764198291 0.00002
NM_182961.4(SYNE1):c.20607A>G (p.Leu6869=) rs752269968 0.00002
NM_182961.4(SYNE1):c.20712+7A>T rs776363510 0.00002
NM_182961.4(SYNE1):c.20862+17G>A rs755276403 0.00002
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=) rs781552217 0.00002
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=) rs375103550 0.00002
NM_182961.4(SYNE1):c.23020-5G>A rs754289166 0.00002
NM_182961.4(SYNE1):c.23103G>A (p.Pro7701=) rs752017186 0.00002
NM_182961.4(SYNE1):c.23214C>G (p.Leu7738=) rs543882781 0.00002
NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=) rs772418162 0.00002
NM_182961.4(SYNE1):c.23373A>G (p.Glu7791=) rs993468538 0.00002
NM_182961.4(SYNE1):c.23978+11A>T rs754355745 0.00002
NM_182961.4(SYNE1):c.24313-8C>T rs201008999 0.00002
NM_182961.4(SYNE1):c.24450+9T>C rs746934542 0.00002
NM_182961.4(SYNE1):c.25246+17C>T rs772625869 0.00002
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=) rs144459490 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.2892+8C>T rs374408461 0.00002
NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=) rs770210620 0.00002
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val) rs746060505 0.00002
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=) rs756713928 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_182961.4(SYNE1):c.4008+16T>C rs763851876 0.00002
NM_182961.4(SYNE1):c.4059A>G (p.Val1353=) rs769854299 0.00002
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=) rs528090478 0.00002
NM_182961.4(SYNE1):c.4461+14A>T rs554281097 0.00002
NM_182961.4(SYNE1):c.4821C>T (p.Ser1607=) rs754445939 0.00002
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=) rs771955377 0.00002
NM_182961.4(SYNE1):c.581+10_581+11del rs1429057946 0.00002
NM_182961.4(SYNE1):c.582-6A>G rs199728167 0.00002
NM_182961.4(SYNE1):c.6933G>A (p.Lys2311=) rs375127604 0.00002
NM_182961.4(SYNE1):c.8373C>T (p.His2791=) rs1465961867 0.00002
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00002
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=) rs143105336 0.00002
NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=) rs759200516 0.00002
NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=) rs757280513 0.00002
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=) rs747731841 0.00002
NM_182961.4(SYNE1):c.9973-16G>C rs1200216933 0.00002
NM_000784.4(CYP27A1):c.1017+14G>A rs1196582375 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00001
NM_000784.4(CYP27A1):c.1185-13C>A rs772157208 0.00001
NM_000784.4(CYP27A1):c.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581 0.00001
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=) rs1943767251 0.00001
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945 0.00001
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=) rs755008787 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-8C>T rs1461082000 0.00001
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) rs1375435703 0.00001
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) rs1943775029 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.255+8G>A rs774689564 0.00001
NM_000784.4(CYP27A1):c.255+9C>T rs762433789 0.00001
NM_000784.4(CYP27A1):c.256-8C>A rs1416013036 0.00001
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) rs1559391394 0.00001
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=) rs1696186258 0.00001
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=) rs1413155008 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.446+15G>A rs775813515 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082 0.00001
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=) rs749708223 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) rs1182190234 0.00001
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=) rs1187804477 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) rs1943733748 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) rs1224145759 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) rs1227319154 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092 0.00001
NM_001077418.3(TMEM231):c.139+24C>T rs746632596 0.00001
NM_001077418.3(TMEM231):c.139+39G>T rs1448302846 0.00001
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=) rs1444231443 0.00001
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=) rs751631216 0.00001
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=) rs748111030 0.00001
NM_001077418.3(TMEM231):c.583-10C>T rs774265542 0.00001
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=) rs959165450 0.00001
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=) rs750043051 0.00001
NM_001077418.3(TMEM231):c.770+18G>T rs1413880610 0.00001
NM_001077418.3(TMEM231):c.771-6C>A rs1160382019 0.00001
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=) rs759314500 0.00001
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) rs1283583747 0.00001
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) rs779005063 0.00001
NM_001329943.3(KIAA0586):c.1254-7C>T rs371116548 0.00001
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) rs755857778 0.00001
NM_001329943.3(KIAA0586):c.1362+12A>G rs374756414 0.00001
NM_001329943.3(KIAA0586):c.1363-18G>A rs767847589 0.00001
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) rs527483829 0.00001
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091 0.00001
NM_001329943.3(KIAA0586):c.1656+11G>A rs2040060841 0.00001
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) rs1202169940 0.00001
NM_001329943.3(KIAA0586):c.200-15C>T rs764593812 0.00001
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) rs185266107 0.00001
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) rs750714192 0.00001
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) rs559438142 0.00001
NM_001329943.3(KIAA0586):c.2255-11A>G rs752712583 0.00001
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) rs200937470 0.00001
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) rs751246498 0.00001
NM_001329943.3(KIAA0586):c.2634+20A>G rs546773198 0.00001
NM_001329943.3(KIAA0586):c.2635-17G>T rs1478236874 0.00001
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) rs776447854 0.00001
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) rs527601211 0.00001
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) rs746874985 0.00001
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) rs3783696 0.00001
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) rs779554669 0.00001
NM_001329943.3(KIAA0586):c.3304+19T>A rs759164063 0.00001
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) rs765655962 0.00001
NM_001329943.3(KIAA0586):c.340+7G>T rs763185199 0.00001
NM_001329943.3(KIAA0586):c.3527+12C>T rs1369279718 0.00001
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) rs764114899 0.00001
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) rs780785984 0.00001
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) rs773464253 0.00001
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) rs1480788246 0.00001
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) rs1222178512 0.00001
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) rs755315601 0.00001
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) rs970331206 0.00001
NM_001329943.3(KIAA0586):c.3858+8A>G rs370569855 0.00001
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) rs1437021057 0.00001
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) rs757412652 0.00001
NM_001329943.3(KIAA0586):c.411-1389C>T rs1490162703 0.00001
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) rs372138430 0.00001
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) rs2044165528 0.00001
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) rs900262881 0.00001
NM_001329943.3(KIAA0586):c.4495+3778T>C rs1022389517 0.00001
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) rs767347007 0.00001
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) rs1019648840 0.00001
NM_001329943.3(KIAA0586):c.808-14C>G rs765153409 0.00001
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) rs541197914 0.00001
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) rs1424135868 0.00001
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=) rs185723423 0.00001
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=) rs762936059 0.00001
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=) rs765815341 0.00001
NM_001378969.1(KCND3):c.1372-6T>C rs765435324 0.00001
NM_001378969.1(KCND3):c.1462-13T>C rs766769240 0.00001
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) rs762528364 0.00001
NM_001378969.1(KCND3):c.1518+18T>C rs377356478 0.00001
NM_001378969.1(KCND3):c.186G>A (p.Pro62=) rs1411627342 0.00001
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys) rs777172603 0.00001
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=) rs777559132 0.00001
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) rs144184587 0.00001
NM_001378969.1(KCND3):c.609G>A (p.Glu203=) rs1171946587 0.00001
NM_001378969.1(KCND3):c.727C>T (p.Leu243=) rs769885163 0.00001
NM_001378969.1(KCND3):c.837C>T (p.Asn279=) rs761397595 0.00001
NM_001378969.1(KCND3):c.96C>T (p.Ala32=) rs767230824 0.00001
NM_001378969.1(KCND3):c.999C>T (p.Ile333=) rs1250316713 0.00001
NM_001379286.1(ZNF423):c.1062G>A (p.Arg354=) rs1400739360 0.00001
NM_001379286.1(ZNF423):c.1068C>T (p.Pro356=) rs765544201 0.00001
NM_001379286.1(ZNF423):c.1071C>T (p.Asp357=) rs755331543 0.00001
NM_001379286.1(ZNF423):c.1363C>T (p.Leu455=) rs1446437246 0.00001
NM_001379286.1(ZNF423):c.1377C>T (p.Pro459=) rs770488069 0.00001
NM_001379286.1(ZNF423):c.144T>C (p.Arg48=) rs1158748807 0.00001
NM_001379286.1(ZNF423):c.1461C>T (p.Ala487=) rs763866990 0.00001
NM_001379286.1(ZNF423):c.1482C>T (p.Pro494=) rs370866383 0.00001
NM_001379286.1(ZNF423):c.1491C>T (p.Phe497=) rs776964253 0.00001
NM_001379286.1(ZNF423):c.1599T>G (p.Gly533=) rs772407048 0.00001
NM_001379286.1(ZNF423):c.1623C>T (p.Thr541=) rs558769719 0.00001
NM_001379286.1(ZNF423):c.1692G>A (p.Thr564=) rs774680380 0.00001
NM_001379286.1(ZNF423):c.1773C>T (p.His591=) rs1409272182 0.00001
NM_001379286.1(ZNF423):c.1932A>G (p.Gln644=) rs765545274 0.00001
NM_001379286.1(ZNF423):c.2124A>G (p.Gln708=) rs906436103 0.00001
NM_001379286.1(ZNF423):c.2145G>A (p.Leu715=) rs371139396 0.00001
NM_001379286.1(ZNF423):c.2430A>G (p.Thr810=) rs777022783 0.00001
NM_001379286.1(ZNF423):c.2460C>T (p.Cys820=) rs1972733540 0.00001
NM_001379286.1(ZNF423):c.2596C>T (p.Leu866=) rs1312203945 0.00001
NM_001379286.1(ZNF423):c.2619C>T (p.Asn873=) rs1972716602 0.00001
NM_001379286.1(ZNF423):c.2667G>A (p.Ala889=) rs756580782 0.00001
NM_001379286.1(ZNF423):c.288C>T (p.His96=) rs1484066548 0.00001
NM_001379286.1(ZNF423):c.2910C>G (p.Pro970=) rs1972697473 0.00001
NM_001379286.1(ZNF423):c.2928C>T (p.Phe976=) rs1972696766 0.00001
NM_001379286.1(ZNF423):c.2946C>T (p.Leu982=) rs139037202 0.00001
NM_001379286.1(ZNF423):c.2952A>G (p.Glu984=) rs1288323161 0.00001
NM_001379286.1(ZNF423):c.301+19A>G rs372074855 0.00001
NM_001379286.1(ZNF423):c.3060C>T (p.Asp1020=) rs1340786585 0.00001
NM_001379286.1(ZNF423):c.3078G>A (p.Thr1026=) rs1371823655 0.00001
NM_001379286.1(ZNF423):c.3120G>A (p.Thr1040=) rs145829157 0.00001
NM_001379286.1(ZNF423):c.3261G>C (p.Leu1087=) rs150941961 0.00001
NM_001379286.1(ZNF423):c.3285G>A (p.Leu1095=) rs776338283 0.00001
NM_001379286.1(ZNF423):c.3348C>T (p.Ala1116=) rs573977564 0.00001
NM_001379286.1(ZNF423):c.3354C>T (p.Pro1118=) rs759709043 0.00001
NM_001379286.1(ZNF423):c.3467C>T (p.Pro1156Leu) rs756742718 0.00001
NM_001379286.1(ZNF423):c.3601+19C>A rs763174963 0.00001
NM_001379286.1(ZNF423):c.372G>A (p.Thr124=) rs374791815 0.00001
NM_001379286.1(ZNF423):c.3734-10C>T rs900395278 0.00001
NM_001379286.1(ZNF423):c.3734-15C>T rs756074378 0.00001
NM_001379286.1(ZNF423):c.3734-8G>T rs200126025 0.00001
NM_001379286.1(ZNF423):c.3738C>T (p.Phe1246=) rs1356458481 0.00001
NM_001379286.1(ZNF423):c.3774C>T (p.Ala1258=) rs767884892 0.00001
NM_001379286.1(ZNF423):c.3801C>T (p.Tyr1267=) rs773714654 0.00001
NM_001379286.1(ZNF423):c.381C>T (p.Ile127=) rs371181840 0.00001
NM_001379286.1(ZNF423):c.3878G>A (p.Ter1293=) rs1596988126 0.00001
NM_001379286.1(ZNF423):c.408C>T (p.Gly136=) rs771424265 0.00001
NM_001379286.1(ZNF423):c.507C>T (p.Ser169=) rs61738768 0.00001
NM_001379286.1(ZNF423):c.591G>A (p.Thr197=) rs528007456 0.00001
NM_001379286.1(ZNF423):c.678C>T (p.Ser226=) rs537999029 0.00001
NM_001379286.1(ZNF423):c.708G>A (p.Lys236=) rs1290446039 0.00001
NM_001379286.1(ZNF423):c.732G>A (p.Ser244=) rs977567436 0.00001
NM_001379286.1(ZNF423):c.786G>A (p.Ser262=) rs1342509044 0.00001
NM_001379286.1(ZNF423):c.849G>A (p.Thr283=) rs752433519 0.00001
NM_001379286.1(ZNF423):c.864G>A (p.Lys288=) rs201849640 0.00001
NM_001379286.1(ZNF423):c.873C>T (p.Leu291=) rs574397693 0.00001
NM_001379286.1(ZNF423):c.882C>T (p.His294=) rs370119954 0.00001
NM_001379286.1(ZNF423):c.885G>A (p.Pro295=) rs145834726 0.00001
NM_001379286.1(ZNF423):c.903G>A (p.Ala301=) rs777817106 0.00001
NM_001379286.1(ZNF423):c.936C>T (p.Phe312=) rs966177282 0.00001
NM_001379286.1(ZNF423):c.978C>T (p.His326=) rs377569533 0.00001
NM_001379286.1(ZNF423):c.993C>T (p.His331=) rs3803666 0.00001
NM_001382391.1(CSPP1):c.-112G>C rs753468929 0.00001
NM_001382391.1(CSPP1):c.-76C>T rs1261027822 0.00001
NM_001382391.1(CSPP1):c.-82G>C rs778940690 0.00001
NM_001382391.1(CSPP1):c.1023-9T>C rs1161675884 0.00001
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) rs780635377 0.00001
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) rs1215710015 0.00001
NM_001382391.1(CSPP1):c.1188-10T>C rs1458775172 0.00001
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) rs182555422 0.00001
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) rs747901737 0.00001
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) rs756441690 0.00001
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) rs1441641063 0.00001
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) rs759106091 0.00001
NM_001382391.1(CSPP1):c.1827+10C>A rs757078413 0.00001
NM_001382391.1(CSPP1):c.1828-4C>A rs1064797347 0.00001
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) rs1320611050 0.00001
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) rs1334965098 0.00001
NM_001382391.1(CSPP1):c.200-15T>C rs1025519086 0.00001
NM_001382391.1(CSPP1):c.2128+17T>G rs1465446692 0.00001
NM_001382391.1(CSPP1):c.2242-19A>T rs771867162 0.00001
NM_001382391.1(CSPP1):c.2391+7C>G rs1827123471 0.00001
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) rs775968442 0.00001
NM_001382391.1(CSPP1):c.2538+10A>G rs141325681 0.00001
NM_001382391.1(CSPP1):c.2538+11G>A rs758376225 0.00001
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) rs780284845 0.00001
NM_001382391.1(CSPP1):c.2643+7A>G rs190584438 0.00001
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) rs763958350 0.00001
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) rs778144204 0.00001
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) rs1324539056 0.00001
NM_001382391.1(CSPP1):c.2829-4A>G rs752142812 0.00001
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) rs567550598 0.00001
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) rs761971816 0.00001
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) rs1810339109 0.00001
NM_001382391.1(CSPP1):c.303+7A>G rs1810343333 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) rs760017432 0.00001
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) rs757510042 0.00001
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) rs374780184 0.00001
NM_001382391.1(CSPP1):c.738T>C (p.His246=) rs773951141 0.00001
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) rs1446123007 0.00001
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1479C>T (p.Ala493=) rs771289068 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.172C>T (p.His58Tyr) rs757760067 0.00001
NM_015046.7(SETX):c.177+18G>A rs201574662 0.00001
NM_015046.7(SETX):c.1833A>G (p.Ala611=) rs751829537 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu) rs776432277 0.00001
NM_015046.7(SETX):c.2552A>T (p.Asp851Val) rs375242350 0.00001
NM_015046.7(SETX):c.27A>G (p.Pro9=) rs761487448 0.00001
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly) rs1354775471 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3018A>C (p.Gly1006=) rs997364371 0.00001
NM_015046.7(SETX):c.304A>G (p.Thr102Ala) rs770962447 0.00001
NM_015046.7(SETX):c.3099C>T (p.Leu1033=) rs755461440 0.00001
NM_015046.7(SETX):c.3294C>T (p.Asp1098=) rs61732723 0.00001
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) rs545072717 0.00001
NM_015046.7(SETX):c.3351T>C (p.Thr1117=) rs1846972454 0.00001
NM_015046.7(SETX):c.3525G>A (p.Arg1175=) rs1353053473 0.00001
NM_015046.7(SETX):c.3603T>C (p.Ile1201=) rs565774066 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3723C>A (p.Thr1241=) rs367828971 0.00001
NM_015046.7(SETX):c.372T>G (p.Leu124=) rs1263479038 0.00001
NM_015046.7(SETX):c.3780A>G (p.Leu1260=) rs375854407 0.00001
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val) rs764516725 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys) rs760272692 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072 0.00001
NM_015046.7(SETX):c.4283A>G (p.His1428Arg) rs778236359 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu) rs1165229035 0.00001
NM_015046.7(SETX):c.484C>T (p.His162Tyr) rs1186709340 0.00001
NM_015046.7(SETX):c.4860T>G (p.Leu1620=) rs758938142 0.00001
NM_015046.7(SETX):c.4872A>G (p.Leu1624=) rs567475841 0.00001
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro) rs142509544 0.00001
NM_015046.7(SETX):c.4971T>C (p.Asn1657=) rs1159266524 0.00001
NM_015046.7(SETX):c.499-10C>T rs1444405452 0.00001
NM_015046.7(SETX):c.499-9T>C rs760214195 0.00001
NM_015046.7(SETX):c.5548+17G>A rs1313333580 0.00001
NM_015046.7(SETX):c.5719C>T (p.Leu1907=) rs767373911 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5782-6A>G rs781129157 0.00001
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser) rs762791927 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.5970A>G (p.Ser1990=) rs1844648216 0.00001
NM_015046.7(SETX):c.5973C>T (p.Asp1991=) rs1210056357 0.00001
NM_015046.7(SETX):c.6024T>C (p.Pro2008=) rs1045096306 0.00001
NM_015046.7(SETX):c.6106+13T>C rs370909687 0.00001
NM_015046.7(SETX):c.6107-5A>G rs1284217475 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6474T>C (p.Ser2158=) rs1216377543 0.00001
NM_015046.7(SETX):c.6546+18C>G rs915871195 0.00001
NM_015046.7(SETX):c.6654+12A>G rs1015821444 0.00001
NM_015046.7(SETX):c.6771G>A (p.Gln2257=) rs778895541 0.00001
NM_015046.7(SETX):c.6804T>A (p.Pro2268=) rs145236863 0.00001
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr) rs1421665944 0.00001
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly) rs370135596 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.765C>A (p.Ser255=) rs774297687 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_016373.4(WWOX):c.1057-18T>G rs780546419 0.00001
NM_016373.4(WWOX):c.107+12G>T rs753626622 0.00001
NM_016373.4(WWOX):c.107+16T>G rs1313734754 0.00001
NM_016373.4(WWOX):c.1107G>A (p.Glu369=) rs369673368 0.00001
NM_016373.4(WWOX):c.1143C>T (p.Arg381=) rs1427739406 0.00001
NM_016373.4(WWOX):c.1158A>G (p.Pro386=) rs755586346 0.00001
NM_016373.4(WWOX):c.117G>A (p.Glu39=) rs368245025 0.00001
NM_016373.4(WWOX):c.1227T>C (p.Leu409=) rs1370851633 0.00001
NM_016373.4(WWOX):c.172+7A>G rs1307853735 0.00001
NM_016373.4(WWOX):c.173-9G>A rs768579025 0.00001
NM_016373.4(WWOX):c.216A>G (p.Gln72=) rs754962104 0.00001
NM_016373.4(WWOX):c.222T>C (p.Phe74=) rs748079925 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.231-20C>G rs768620458 0.00001
NM_016373.4(WWOX):c.231-6G>T rs987981847 0.00001
NM_016373.4(WWOX):c.24G>A (p.Gly8=) rs960284644 0.00001
NM_016373.4(WWOX):c.273G>A (p.Ala91=) rs778288592 0.00001
NM_016373.4(WWOX):c.303A>G (p.Pro101=) rs761783544 0.00001
NM_016373.4(WWOX):c.372C>A (p.Gly124=) rs1427515892 0.00001
NM_016373.4(WWOX):c.410-19A>G rs201778955 0.00001
NM_016373.4(WWOX):c.567C>T (p.Ser189=) rs201593515 0.00001
NM_016373.4(WWOX):c.579T>C (p.Phe193=) rs554077107 0.00001
NM_016373.4(WWOX):c.605+10C>G rs201186695 0.00001
NM_016373.4(WWOX):c.605+11C>T rs1271857180 0.00001
NM_016373.4(WWOX):c.605+19G>A rs199843934 0.00001
NM_016373.4(WWOX):c.678G>A (p.Glu226=) rs750905852 0.00001
NM_016373.4(WWOX):c.78C>T (p.Thr26=) rs761493229 0.00001
NM_016373.4(WWOX):c.791+11A>G rs779754174 0.00001
NM_016373.4(WWOX):c.843T>A (p.Ser281=) rs367855242 0.00001
NM_016373.4(WWOX):c.866C>T (p.Ala289Val) rs753894507 0.00001
NM_016373.4(WWOX):c.906C>T (p.Leu302=) rs377404672 0.00001
NM_016373.4(WWOX):c.945G>A (p.Gly315=) rs1232491002 0.00001
NM_016373.4(WWOX):c.948C>G (p.Val316=) rs201986739 0.00001
NM_016373.4(WWOX):c.954G>A (p.Ser318=) rs971458936 0.00001
NM_016373.4(WWOX):c.999C>T (p.Arg333=) rs774462234 0.00001
NM_016373.4(WWOX):c.99C>T (p.Tyr33=) rs760762887 0.00001
NM_016373.4(WWOX):c.9G>C (p.Ala3=) rs778036247 0.00001
NM_016464.5(TMEM138):c.129-18T>A rs1181378192 0.00001
NM_016464.5(TMEM138):c.129-20A>T rs1477684645 0.00001
NM_016464.5(TMEM138):c.129-8G>T rs1438561210 0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=) rs756828257 0.00001
NM_016464.5(TMEM138):c.300+17G>A rs1858147311 0.00001
NM_016464.5(TMEM138):c.301-9C>A rs764884921 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NM_182961.4(SYNE1):c.10206C>T (p.Ser3402=) rs1158144490 0.00001
NM_182961.4(SYNE1):c.10318C>T (p.Leu3440=) rs997731221 0.00001
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=) rs759403120 0.00001
NM_182961.4(SYNE1):c.10608+20A>G rs370822005 0.00001
NM_182961.4(SYNE1):c.10620A>G (p.Val3540=) rs1308068026 0.00001
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=) rs147021971 0.00001
NM_182961.4(SYNE1):c.10927-18G>A rs759603128 0.00001
NM_182961.4(SYNE1):c.10953C>T (p.Tyr3651=) rs779741109 0.00001
NM_182961.4(SYNE1):c.11083-8T>C rs752554466 0.00001
NM_182961.4(SYNE1):c.11083-9C>T rs758255035 0.00001
NM_182961.4(SYNE1):c.1110A>G (p.Gln370=) rs756294096 0.00001
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=) rs777170937 0.00001
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=) rs746623465 0.00001
NM_182961.4(SYNE1):c.11581-19T>C rs1193068464 0.00001
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266 0.00001
NM_182961.4(SYNE1):c.12039A>C (p.Thr4013=) rs1190890349 0.00001
NM_182961.4(SYNE1):c.12079-4T>C rs749035276 0.00001
NM_182961.4(SYNE1):c.12171G>A (p.Pro4057=) rs112128801 0.00001
NM_182961.4(SYNE1):c.12352-19A>G rs535649438 0.00001
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=) rs1167024658 0.00001
NM_182961.4(SYNE1):c.12687C>T (p.Cys4229=) rs755451612 0.00001
NM_182961.4(SYNE1):c.12794+18A>T rs780721542 0.00001
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=) rs749626940 0.00001
NM_182961.4(SYNE1):c.12883C>T (p.Leu4295=) rs781279526 0.00001
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=) rs968884551 0.00001
NM_182961.4(SYNE1):c.1299G>A (p.Gln433=) rs1224893756 0.00001
NM_182961.4(SYNE1):c.13032G>A (p.Glu4344=) rs1053180393 0.00001
NM_182961.4(SYNE1):c.13320A>G (p.Leu4440=) rs374787261 0.00001
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=) rs141847989 0.00001
NM_182961.4(SYNE1):c.13467G>A (p.Val4489=) rs1166201006 0.00001
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=) rs758900989 0.00001
NM_182961.4(SYNE1):c.1350+13G>A rs994953289 0.00001
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=) rs530630718 0.00001
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=) rs563207771 0.00001
NM_182961.4(SYNE1):c.13827T>G (p.Leu4609=) rs1415812565 0.00001
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=) rs886042872 0.00001
NM_182961.4(SYNE1):c.141A>G (p.Pro47=) rs551171550 0.00001
NM_182961.4(SYNE1):c.14274A>G (p.Leu4758=) rs1454377562 0.00001
NM_182961.4(SYNE1):c.14628G>A (p.Val4876=) rs772957773 0.00001
NM_182961.4(SYNE1):c.15057A>G (p.Ala5019=) rs1462308045 0.00001
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=) rs772100783 0.00001
NM_182961.4(SYNE1):c.15165G>C (p.Leu5055=) rs760844118 0.00001
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=) rs370314344 0.00001
NM_182961.4(SYNE1):c.15294-16G>A rs762945450 0.00001
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=) rs780437149 0.00001
NM_182961.4(SYNE1):c.15370T>C (p.Leu5124=) rs758423743 0.00001
NM_182961.4(SYNE1):c.15658-20G>T rs901508795 0.00001
NM_182961.4(SYNE1):c.1590C>T (p.Tyr530=) rs369178017 0.00001
NM_182961.4(SYNE1):c.16237-10A>T rs201078255 0.00001
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=) rs142704460 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=) rs1455225493 0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=) rs573806608 0.00001
NM_182961.4(SYNE1):c.17020-16G>A rs745471011 0.00001
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=) rs769890058 0.00001
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323 0.00001
NM_182961.4(SYNE1):c.17229T>C (p.Tyr5743=) rs377344899 0.00001
NM_182961.4(SYNE1):c.1729+8A>G rs188999515 0.00001
NM_182961.4(SYNE1):c.17347-16G>C rs200637611 0.00001
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=) rs963252462 0.00001
NM_182961.4(SYNE1):c.17562C>T (p.His5854=) rs771992733 0.00001
NM_182961.4(SYNE1):c.17682+7C>T rs1453568721 0.00001
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=) rs550385131 0.00001
NM_182961.4(SYNE1):c.17775T>C (p.Tyr5925=) rs756831138 0.00001
NM_182961.4(SYNE1):c.17851-7G>T rs776806501 0.00001
NM_182961.4(SYNE1):c.17943C>A (p.Ala5981=) rs201436749 0.00001
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=) rs749375364 0.00001
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00001
NM_182961.4(SYNE1):c.18189G>C (p.Gly6063=) rs1025895913 0.00001
NM_182961.4(SYNE1):c.18228G>A (p.Leu6076=) rs1188706681 0.00001
NM_182961.4(SYNE1):c.18249G>A (p.Gln6083=) rs748739828 0.00001
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=) rs148518750 0.00001
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=) rs769588658 0.00001
NM_182961.4(SYNE1):c.18574-4G>C rs767063118 0.00001
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=) rs552884641 0.00001
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=) rs771466788 0.00001
NM_182961.4(SYNE1):c.1875G>A (p.Leu625=) rs908412593 0.00001
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=) rs368818393 0.00001
NM_182961.4(SYNE1):c.1887A>G (p.Leu629=) rs972467458 0.00001
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=) rs762720357 0.00001
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=) rs749565347 0.00001
NM_182961.4(SYNE1):c.1932+7T>C rs754738610 0.00001
NM_182961.4(SYNE1):c.19683C>G (p.Ser6561=) rs1463559492 0.00001
NM_182961.4(SYNE1):c.19719C>T (p.Ile6573=) rs1437801725 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.19894-11A>C rs1388264961 0.00001
NM_182961.4(SYNE1):c.20068-20G>A rs769554267 0.00001
NM_182961.4(SYNE1):c.20295A>G (p.Leu6765=) rs1180529553 0.00001
NM_182961.4(SYNE1):c.20517A>G (p.Leu6839=) rs1428729266 0.00001
NM_182961.4(SYNE1):c.20530-10C>T rs1562379182 0.00001
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=) rs969664934 0.00001
NM_182961.4(SYNE1):c.20691C>T (p.Ala6897=) rs775882254 0.00001
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=) rs138024258 0.00001
NM_182961.4(SYNE1):c.20964T>C (p.Asp6988=) rs1361567937 0.00001
NM_182961.4(SYNE1):c.21352-19T>C rs1316209013 0.00001
NM_182961.4(SYNE1):c.21426A>T (p.Ile7142=) rs775691059 0.00001
NM_182961.4(SYNE1):c.21523-19G>A rs1480392957 0.00001
NM_182961.4(SYNE1):c.21657-19T>C rs993085792 0.00001
NM_182961.4(SYNE1):c.21663T>C (p.Asn7221=) rs1413291850 0.00001
NM_182961.4(SYNE1):c.21702C>T (p.Ser7234=) rs763751486 0.00001
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=) rs1023357286 0.00001
NM_182961.4(SYNE1):c.21825C>T (p.Ala7275=) rs746044264 0.00001
NM_182961.4(SYNE1):c.21862-4C>T rs772311271 0.00001
NM_182961.4(SYNE1):c.22045-17C>A rs750865625 0.00001
NM_182961.4(SYNE1):c.22260A>G (p.Leu7420=) rs900883985 0.00001
NM_182961.4(SYNE1):c.22308T>C (p.His7436=) rs538357613 0.00001
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=) rs745722568 0.00001
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=) rs779555194 0.00001
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=) rs765032226 0.00001
NM_182961.4(SYNE1):c.22824+19T>C rs367932651 0.00001
NM_182961.4(SYNE1):c.22825-14A>G rs201610447 0.00001
NM_182961.4(SYNE1):c.22887G>A (p.Lys7629=) rs780771518 0.00001
NM_182961.4(SYNE1):c.22914C>T (p.Gly7638=) rs772920041 0.00001
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=) rs747134735 0.00001
NM_182961.4(SYNE1):c.23100C>T (p.Leu7700=) rs1020807218 0.00001
NM_182961.4(SYNE1):c.23148A>G (p.Glu7716=) rs768057206 0.00001
NM_182961.4(SYNE1):c.23190G>A (p.Gln7730=) rs370445850 0.00001
NM_182961.4(SYNE1):c.23271G>A (p.Leu7757=) rs993878825 0.00001
NM_182961.4(SYNE1):c.23301+10G>A rs113526858 0.00001
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=) rs780485635 0.00001
NM_182961.4(SYNE1):c.23460+10G>A rs376484866 0.00001
NM_182961.4(SYNE1):c.23628-20T>C rs1242408253 0.00001
NM_182961.4(SYNE1):c.23703C>T (p.Leu7901=) rs998453025 0.00001
NM_182961.4(SYNE1):c.23791-5T>C rs2061329366 0.00001
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=) rs572195368 0.00001
NM_182961.4(SYNE1):c.2412C>T (p.Ser804=) rs1384388900 0.00001
NM_182961.4(SYNE1):c.24273C>T (p.Asn8091=) rs774885671 0.00001
NM_182961.4(SYNE1):c.24330T>C (p.Arg8110=) rs994710536 0.00001
NM_182961.4(SYNE1):c.24420T>C (p.Cys8140=) rs1437033330 0.00001
NM_182961.4(SYNE1):c.24423T>C (p.Asp8141=) rs1257978665 0.00001
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=) rs755622688 0.00001
NM_182961.4(SYNE1):c.24552C>T (p.Ile8184=) rs563494219 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.24613A>C (p.Arg8205=) rs779904585 0.00001
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=) rs373486168 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.24771C>T (p.Leu8257=) rs2059847697 0.00001
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=) rs754900484 0.00001
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=) rs794727110 0.00001
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=) rs753367709 0.00001
NM_182961.4(SYNE1):c.25032T>C (p.Asp8344=) rs779618522 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25062T>C (p.Asn8354=) rs765407593 0.00001
NM_182961.4(SYNE1):c.25362C>T (p.Ala8454=) rs773341728 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.25789-12T>G rs775060646 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=) rs529628600 0.00001
NM_182961.4(SYNE1):c.2661C>T (p.Asn887=) rs780865643 0.00001
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=) rs754176545 0.00001
NM_182961.4(SYNE1):c.2727+8G>T rs112473275 0.00001
NM_182961.4(SYNE1):c.2892+7C>T rs1372175734 0.00001
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=) rs770801617 0.00001
NM_182961.4(SYNE1):c.310-11T>G rs1241486044 0.00001
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=) rs561575834 0.00001
NM_182961.4(SYNE1):c.3396-15C>T rs535421518 0.00001
NM_182961.4(SYNE1):c.3462C>T (p.Ala1154=) rs1485702967 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.384C>G (p.Thr128=) rs773315965 0.00001
NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=) rs199595574 0.00001
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=) rs765010255 0.00001
NM_182961.4(SYNE1):c.4462-7C>A rs776393742 0.00001
NM_182961.4(SYNE1):c.4809G>A (p.Glu1603=) rs758316270 0.00001
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121 0.00001
NM_182961.4(SYNE1):c.5037T>C (p.Ser1679=) rs1010531718 0.00001
NM_182961.4(SYNE1):c.5088T>G (p.Leu1696=) rs767477486 0.00001
NM_182961.4(SYNE1):c.5220G>A (p.Glu1740=) rs751765439 0.00001
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=) rs587780469 0.00001
NM_182961.4(SYNE1):c.5422-7C>T rs757136765 0.00001
NM_182961.4(SYNE1):c.5556G>A (p.Leu1852=) rs762111366 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_182961.4(SYNE1):c.6027T>A (p.Pro2009=) rs1181492707 0.00001
NM_182961.4(SYNE1):c.6051-15C>A rs199794081 0.00001
NM_182961.4(SYNE1):c.6051-6T>C rs1171413264 0.00001
NM_182961.4(SYNE1):c.6231-7A>G rs368858186 0.00001
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=) rs767090248 0.00001
NM_182961.4(SYNE1):c.6381+15G>A rs1316706320 0.00001
NM_182961.4(SYNE1):c.6402A>G (p.Lys2134=) rs182732645 0.00001
NM_182961.4(SYNE1):c.6540+11C>T rs765474841 0.00001
NM_182961.4(SYNE1):c.6591C>T (p.Ser2197=) rs190301879 0.00001
NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=) rs758841233 0.00001
NM_182961.4(SYNE1):c.6724-6T>C rs1441438677 0.00001
NM_182961.4(SYNE1):c.679T>C (p.Leu227=) rs374438652 0.00001
NM_182961.4(SYNE1):c.6813G>A (p.Pro2271=) rs138911730 0.00001
NM_182961.4(SYNE1):c.6A>C (p.Ala2=) rs757033067 0.00001
NM_182961.4(SYNE1):c.7218T>C (p.Ser2406=) rs947558246 0.00001
NM_182961.4(SYNE1):c.7267T>C (p.Leu2423=) rs968854661 0.00001
NM_182961.4(SYNE1):c.738C>T (p.Ala246=) rs370211240 0.00001
NM_182961.4(SYNE1):c.7434T>C (p.Ser2478=) rs1340757793 0.00001
NM_182961.4(SYNE1):c.7545A>G (p.Ser2515=) rs747473998 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_182961.4(SYNE1):c.7704G>T (p.Leu2568=) rs766042710 0.00001
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=) rs1275065218 0.00001
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=) rs748909185 0.00001
NM_182961.4(SYNE1):c.8004+9G>A rs539649819 0.00001
NM_182961.4(SYNE1):c.801T>C (p.Asp267=) rs1211961286 0.00001
NM_182961.4(SYNE1):c.8041T>C (p.Leu2681=) rs758296829 0.00001
NM_182961.4(SYNE1):c.8106G>T (p.Val2702=) rs770378849 0.00001
NM_182961.4(SYNE1):c.8148C>T (p.Asp2716=) rs752872189 0.00001
NM_182961.4(SYNE1):c.8233T>C (p.Leu2745=) rs541934779 0.00001
NM_182961.4(SYNE1):c.8379A>G (p.Leu2793=) rs768912049 0.00001
NM_182961.4(SYNE1):c.8385G>A (p.Ala2795=) rs267600863 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=) rs759736838 0.00001
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=) rs146288148 0.00001
NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=) rs780165911 0.00001
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=) rs769247891 0.00001
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=) rs750603610 0.00001
NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=) rs139845890 0.00001
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=) rs143974384 0.00001
NM_182961.4(SYNE1):c.9255C>T (p.Ile3085=) rs746663201 0.00001
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=) rs199554198 0.00001
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00001
NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=) rs750286179 0.00001
NM_182961.4(SYNE1):c.9507+18C>T rs769887324 0.00001
NM_182961.4(SYNE1):c.9726A>G (p.Glu3242=) rs990051448 0.00001
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00001
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_000784.4(CYP27A1):c.1017+10G>T
NM_000784.4(CYP27A1):c.1017+11G>C rs766039123
NM_000784.4(CYP27A1):c.1017+11G>T rs766039123
NM_000784.4(CYP27A1):c.1017+14G>C rs1196582375
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T
NM_000784.4(CYP27A1):c.1017+18G>T
NM_000784.4(CYP27A1):c.1018-11C>G
NM_000784.4(CYP27A1):c.1018-16C>T
NM_000784.4(CYP27A1):c.1018-19C>A
NM_000784.4(CYP27A1):c.1018-19C>T
NM_000784.4(CYP27A1):c.1018-4C>G
NM_000784.4(CYP27A1):c.1018-4C>T
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) rs2105980889
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=) rs2105980920
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1184+16G>A
NM_000784.4(CYP27A1):c.1184+16G>C rs1445661658
NM_000784.4(CYP27A1):c.1184+16G>T rs1445661658
NM_000784.4(CYP27A1):c.1184+20T>C
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+7C>T rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>A rs200457116
NM_000784.4(CYP27A1):c.1184+9G>C rs200457116
NM_000784.4(CYP27A1):c.1185-18A>G
NM_000784.4(CYP27A1):c.1185-19G>A
NM_000784.4(CYP27A1):c.1185-4G>A rs776459243
NM_000784.4(CYP27A1):c.1185-4G>T rs776459243
NM_000784.4(CYP27A1):c.1185-5T>C rs2105981044
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) rs1271161678
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) rs767002858
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) rs2106479141
NM_000784.4(CYP27A1):c.1263+14G>C
NM_000784.4(CYP27A1):c.1263+19C>T
NM_000784.4(CYP27A1):c.1264-5T>G
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G
NM_000784.4(CYP27A1):c.1264-8C>T rs2105981161
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=) rs2105981167
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
NM_000784.4(CYP27A1):c.1284C>T (p.His428=) rs1653127444
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=) rs2105981221
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) rs760024535
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A
NM_000784.4(CYP27A1):c.1476+15G>C
NM_000784.4(CYP27A1):c.1476+17T>C
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1477-13C>G
NM_000784.4(CYP27A1):c.1477-13C>T
NM_000784.4(CYP27A1):c.1477-16G>T
NM_000784.4(CYP27A1):c.1477-19T>A
NM_000784.4(CYP27A1):c.1477-19T>C
NM_000784.4(CYP27A1):c.1477-20A>G
NM_000784.4(CYP27A1):c.1477-20A>T rs757019811
NM_000784.4(CYP27A1):c.1477-4C>A
NM_000784.4(CYP27A1):c.1477-4C>G
NM_000784.4(CYP27A1):c.1477-4C>T
NM_000784.4(CYP27A1):c.1477-5C>G
NM_000784.4(CYP27A1):c.1477-5C>T rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A
NM_000784.4(CYP27A1):c.1477-6C>T rs1182127092
NM_000784.4(CYP27A1):c.1477-7C>A rs2105981410
NM_000784.4(CYP27A1):c.1477-7C>T
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) rs1481894464
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
NM_000784.4(CYP27A1):c.255+10G>A
NM_000784.4(CYP27A1):c.255+14G>A
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G
NM_000784.4(CYP27A1):c.255+7del
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-16T>G
NM_000784.4(CYP27A1):c.256-17T>G
NM_000784.4(CYP27A1):c.256-20G>A
NM_000784.4(CYP27A1):c.256-5C>T rs768029983
NM_000784.4(CYP27A1):c.256-6C>T
NM_000784.4(CYP27A1):c.256-9A>C
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) rs2105978806
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=) rs2106479038
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=) rs773872361
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=) rs755282568
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) rs2105978849
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) rs919883150
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=) rs2105978882
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=) rs2106479059
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=) rs2105978956
NM_000784.4(CYP27A1):c.446+10G>A rs200400166
NM_000784.4(CYP27A1):c.446+18G>A
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.446+9G>T
NM_000784.4(CYP27A1):c.447-12G>T
NM_000784.4(CYP27A1):c.447-13T>G
NM_000784.4(CYP27A1):c.447-15T>C
NM_000784.4(CYP27A1):c.447-4G>T rs2105979874
NM_000784.4(CYP27A1):c.447-8C>A
NM_000784.4(CYP27A1):c.447-8C>G
NM_000784.4(CYP27A1):c.447-9T>A
NM_000784.4(CYP27A1):c.447-9T>C
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) rs2105979882
NM_000784.4(CYP27A1):c.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=) rs2105979919
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) rs59443548
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) rs1238433654
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) rs2105979971
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) rs781222632
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
NM_000784.4(CYP27A1):c.646+10C>T
NM_000784.4(CYP27A1):c.646+11T>C
NM_000784.4(CYP27A1):c.646+13G>T
NM_000784.4(CYP27A1):c.646+19G>A
NM_000784.4(CYP27A1):c.646+8T>C
NM_000784.4(CYP27A1):c.646+8del rs1943728243
NM_000784.4(CYP27A1):c.646+9G>C rs760140162
NM_000784.4(CYP27A1):c.647-10C>T
NM_000784.4(CYP27A1):c.647-16T>G
NM_000784.4(CYP27A1):c.647-17C>A
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A
NM_000784.4(CYP27A1):c.647-18C>T
NM_000784.4(CYP27A1):c.647-19G>A
NM_000784.4(CYP27A1):c.647-7T>C
NM_000784.4(CYP27A1):c.647-9A>G
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) rs1414259537
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) rs2105980119
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=) rs2105980247
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=) rs532134925
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
NM_000784.4(CYP27A1):c.844+10C>T
NM_000784.4(CYP27A1):c.844+13A>T
NM_000784.4(CYP27A1):c.844+14G>C
NM_000784.4(CYP27A1):c.844+9T>G
NM_000784.4(CYP27A1):c.845-10G>A
NM_000784.4(CYP27A1):c.845-12T>C
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) rs762359911
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=) rs1943741154
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=) rs1400093675
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_001077418.3(TMEM231):c.-30C>A rs2080810566
NM_001077418.3(TMEM231):c.139+12C>T rs937269706
NM_001077418.3(TMEM231):c.139+39G>C rs1448302846
NM_001077418.3(TMEM231):c.139+48G>T rs1234390023
NM_001077418.3(TMEM231):c.139+9G>A
NM_001077418.3(TMEM231):c.140-29C>T
NM_001077418.3(TMEM231):c.140-2A>G rs1216670609
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.140-5C>T
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=) rs781250253
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=) rs2151710642
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
NM_001077418.3(TMEM231):c.309+12C>T
NM_001077418.3(TMEM231):c.310-15G>C rs2151703201
NM_001077418.3(TMEM231):c.310-4C>G rs2080685365
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys) rs775329522
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
NM_001077418.3(TMEM231):c.396T>C (p.Val132=) rs1187444555
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=) rs2080683492
NM_001077418.3(TMEM231):c.438+13G>A rs780849828
NM_001077418.3(TMEM231):c.438+13G>T rs780849828
NM_001077418.3(TMEM231):c.439-11A>G
NM_001077418.3(TMEM231):c.439-20G>T
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=) rs1335128278
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
NM_001077418.3(TMEM231):c.582+17T>G
NM_001077418.3(TMEM231):c.582+8C>T
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001077418.3(TMEM231):c.665-13G>C
NM_001077418.3(TMEM231):c.665-19G>T rs200581224
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr) rs1344067825
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val) rs951457866
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
NM_001077418.3(TMEM231):c.770+20G>A
NM_001077418.3(TMEM231):c.771-17T>G
NM_001077418.3(TMEM231):c.771-4A>G
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=) rs754352443
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=) rs1362332031
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
NM_001244189.2(KIAA0586):c.9+12G>C rs2140365548
NM_001244189.2(KIAA0586):c.9+16C>T
NM_001329943.3(KIAA0586):c.*20A>G
NM_001329943.3(KIAA0586):c.-1T>C
NM_001329943.3(KIAA0586):c.-31T>G
NM_001329943.3(KIAA0586):c.-36G>A rs781284563
NM_001329943.3(KIAA0586):c.-37C>G
NM_001329943.3(KIAA0586):c.-47A>G
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
NM_001329943.3(KIAA0586):c.1129+16A>C rs1263079347
NM_001329943.3(KIAA0586):c.1129+20G>C
NM_001329943.3(KIAA0586):c.1130-12C>T
NM_001329943.3(KIAA0586):c.1130-16A>G
NM_001329943.3(KIAA0586):c.1130-18A>G
NM_001329943.3(KIAA0586):c.1130-20C>G
NM_001329943.3(KIAA0586):c.1130-7A>G rs1656520928
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) rs2039565444
NM_001329943.3(KIAA0586):c.1253+12A>T
NM_001329943.3(KIAA0586):c.1253+17G>A
NM_001329943.3(KIAA0586):c.1253+19A>C
NM_001329943.3(KIAA0586):c.1254-12A>G
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
NM_001329943.3(KIAA0586):c.1362+10G>T
NM_001329943.3(KIAA0586):c.1362+17C>T
NM_001329943.3(KIAA0586):c.1363-11T>C rs2140842996
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) rs2140843741
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
NM_001329943.3(KIAA0586):c.1583+17A>G
NM_001329943.3(KIAA0586):c.1583+7G>A rs1333490071
NM_001329943.3(KIAA0586):c.1584-14T>C rs2140853060
NM_001329943.3(KIAA0586):c.1584-18C>A
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) rs776054856
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
NM_001329943.3(KIAA0586):c.1656+12A>G
NM_001329943.3(KIAA0586):c.1656+17A>T
NM_001329943.3(KIAA0586):c.1656+19C>A
NM_001329943.3(KIAA0586):c.1657-13T>C
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) rs567927914
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
NM_001329943.3(KIAA0586):c.1884+15T>C rs1313237040
NM_001329943.3(KIAA0586):c.1885-12T>G
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
NM_001329943.3(KIAA0586):c.1885-15A>T
NM_001329943.3(KIAA0586):c.1885-5C>T rs752142962
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) rs376649351
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) rs1477846398
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
NM_001329943.3(KIAA0586):c.199+13A>C rs769176872
NM_001329943.3(KIAA0586):c.199+13A>G
NM_001329943.3(KIAA0586):c.199+15G>A
NM_001329943.3(KIAA0586):c.200-5G>A
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) rs2140887489
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) rs190081177
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
NM_001329943.3(KIAA0586):c.2059+20A>G
NM_001329943.3(KIAA0586):c.2060-16T>C
NM_001329943.3(KIAA0586):c.2060-19C>T
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
NM_001329943.3(KIAA0586):c.2254+17T>C rs2140941167
NM_001329943.3(KIAA0586):c.2254+20G>T
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
NM_001329943.3(KIAA0586):c.2442+11del rs753806115
NM_001329943.3(KIAA0586):c.2442+15A>C
NM_001329943.3(KIAA0586):c.2442+16T>C
NM_001329943.3(KIAA0586):c.2442+9G>A rs1490718693
NM_001329943.3(KIAA0586):c.2443-14G>A
NM_001329943.3(KIAA0586):c.2443-18T>C
NM_001329943.3(KIAA0586):c.2443-19A>G
NM_001329943.3(KIAA0586):c.2443-4T>C rs911579183
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) rs761492303
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) rs751246498
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
NM_001329943.3(KIAA0586):c.2553+20C>A
NM_001329943.3(KIAA0586):c.2554-4T>G
NM_001329943.3(KIAA0586):c.2554-9C>A
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
NM_001329943.3(KIAA0586):c.2634+12T>C rs766964981
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) rs2037178345
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
NM_001329943.3(KIAA0586):c.2825+15T>G
NM_001329943.3(KIAA0586):c.2826-10A>G
NM_001329943.3(KIAA0586):c.2826-11C>T
NM_001329943.3(KIAA0586):c.2826-12C>T
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) rs1187492772
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
NM_001329943.3(KIAA0586):c.2944+13G>A
NM_001329943.3(KIAA0586):c.2944+16T>A
NM_001329943.3(KIAA0586):c.2944+17T>G
NM_001329943.3(KIAA0586):c.2944+19T>A
NM_001329943.3(KIAA0586):c.2945-4T>C
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) rs1284387922
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
NM_001329943.3(KIAA0586):c.3144+20C>G
NM_001329943.3(KIAA0586):c.3144+20C>T
NM_001329943.3(KIAA0586):c.3144+7G>A
NM_001329943.3(KIAA0586):c.3145-12T>C
NM_001329943.3(KIAA0586):c.3145-16G>A
NM_001329943.3(KIAA0586):c.3145-8T>C
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) rs528416301
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG rs2141183723
NM_001329943.3(KIAA0586):c.3305-17T>A
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) rs2141193804
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) rs2140373069
NM_001329943.3(KIAA0586):c.340+13T>G
NM_001329943.3(KIAA0586):c.340+14A>G
NM_001329943.3(KIAA0586):c.341-17G>C
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) rs759687892
NM_001329943.3(KIAA0586):c.3527+17T>C
NM_001329943.3(KIAA0586):c.3528-15T>G rs752835695
NM_001329943.3(KIAA0586):c.3528-16G>A
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) rs367676896
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) rs2141202944
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) rs368352741
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) rs1489789614
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) rs372215354
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
NM_001329943.3(KIAA0586):c.3781+18A>G
NM_001329943.3(KIAA0586):c.3782-18T>A
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
NM_001329943.3(KIAA0586):c.3858+16C>T
NM_001329943.3(KIAA0586):c.3858+7A>G rs771949597
NM_001329943.3(KIAA0586):c.3858+9C>T
NM_001329943.3(KIAA0586):c.3859-13A>G
NM_001329943.3(KIAA0586):c.3859-16T>A
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) rs757393939
NM_001329943.3(KIAA0586):c.3990+19G>A
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
NM_001329943.3(KIAA0586):c.411-12T>G
NM_001329943.3(KIAA0586):c.411-1347C>T
NM_001329943.3(KIAA0586):c.411-1348dup
NM_001329943.3(KIAA0586):c.411-1349C>T
NM_001329943.3(KIAA0586):c.411-1355C>T
NM_001329943.3(KIAA0586):c.411-1380G>A
NM_001329943.3(KIAA0586):c.411-1491G>T rs2140520688
NM_001329943.3(KIAA0586):c.411-15dup
NM_001329943.3(KIAA0586):c.411-4A>G
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
NM_001329943.3(KIAA0586):c.4168+13A>G rs375052904
NM_001329943.3(KIAA0586):c.4168+8C>A rs1331278032
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) rs369935221
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4323+12A>G
NM_001329943.3(KIAA0586):c.4324-11A>T
NM_001329943.3(KIAA0586):c.4324-16A>G rs376320678
NM_001329943.3(KIAA0586):c.4324-6A>G
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) rs2141479527
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) rs2141479570
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
NM_001329943.3(KIAA0586):c.4429+11T>A
NM_001329943.3(KIAA0586):c.4429+16A>G
NM_001329943.3(KIAA0586):c.4429+17T>C
NM_001329943.3(KIAA0586):c.4430-15T>A rs1212572767
NM_001329943.3(KIAA0586):c.4430-15T>C
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) rs780867053
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
NM_001329943.3(KIAA0586):c.4495+12A>G rs2140098467
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
NM_001329943.3(KIAA0586):c.4495+3729T>C
NM_001329943.3(KIAA0586):c.4495+3730T>G
NM_001329943.3(KIAA0586):c.4495+3732T>A
NM_001329943.3(KIAA0586):c.4495+3737T>G
NM_001329943.3(KIAA0586):c.4495+3796G>T
NM_001329943.3(KIAA0586):c.4495+7T>C
NM_001329943.3(KIAA0586):c.4496-17G>A
NM_001329943.3(KIAA0586):c.4496-3794A>G
NM_001329943.3(KIAA0586):c.4496-3799A>G
NM_001329943.3(KIAA0586):c.4496-3803T>G
NM_001329943.3(KIAA0586):c.4496-3816C>T
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) rs2140156164
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) rs2047081237
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
NM_001329943.3(KIAA0586):c.585+17_585+29del
NM_001329943.3(KIAA0586):c.586-16G>T
NM_001329943.3(KIAA0586):c.586-17T>C
NM_001329943.3(KIAA0586):c.586-4T>G
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) rs774888789
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) rs577258273
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) rs1487078229
NM_001329943.3(KIAA0586):c.807+10A>C rs368833496
NM_001329943.3(KIAA0586):c.807+12A>G
NM_001329943.3(KIAA0586):c.807+19G>C
NM_001329943.3(KIAA0586):c.807+8del rs2140568510
NM_001329943.3(KIAA0586):c.807+9A>G rs2140568561
NM_001329943.3(KIAA0586):c.808-13T>G rs1364907790
NM_001329943.3(KIAA0586):c.808-20A>C
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) rs2140662420
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
NM_001329943.3(KIAA0586):c.961+11G>T
NM_001329943.3(KIAA0586):c.962-14A>C rs200528557
NM_001329943.3(KIAA0586):c.962-19A>T
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
NM_001347702.2(SYNE1):c.1452C>A (p.Ile484=)
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=) rs1216276887
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=) rs1467256846
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
NM_001378969.1(KCND3):c.1106+11G>A
NM_001378969.1(KCND3):c.1106+11G>T rs1437557964
NM_001378969.1(KCND3):c.1107-21_1107-20del
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=) rs1571636426
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=) rs533201615
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
NM_001378969.1(KCND3):c.1269+14G>A rs369047161
NM_001378969.1(KCND3):c.1270-20dup
NM_001378969.1(KCND3):c.1270-6T>C rs1195309269
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
NM_001378969.1(KCND3):c.1371+19T>G
NM_001378969.1(KCND3):c.1372-14T>C
NM_001378969.1(KCND3):c.1372-17T>C
NM_001378969.1(KCND3):c.1372-4C>T
NM_001378969.1(KCND3):c.1372-6T>G
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
NM_001378969.1(KCND3):c.1461+7C>A
NM_001378969.1(KCND3):c.1461+9C>T
NM_001378969.1(KCND3):c.1462-10T>G rs2101462550
NM_001378969.1(KCND3):c.1462-16G>T
NM_001378969.1(KCND3):c.1462-4G>A
NM_001378969.1(KCND3):c.1518+17A>C
NM_001378969.1(KCND3):c.1519-10C>T rs1664168851
NM_001378969.1(KCND3):c.1519-17_1519-15del
NM_001378969.1(KCND3):c.1519-20_1519-18del rs775978779
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
NM_001378969.1(KCND3):c.1767-17A>C
NM_001378969.1(KCND3):c.1767-4C>G
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
NM_001378969.1(KCND3):c.36C>T (p.Ala12=) rs2102000445
NM_001378969.1(KCND3):c.447C>T (p.Asp149=) rs1553187519
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) rs1170371506
NM_001378969.1(KCND3):c.522G>A (p.Glu174=) rs2101997545
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
NM_001378969.1(KCND3):c.600C>T (p.Asn200=) rs1674984825
NM_001378969.1(KCND3):c.633G>A (p.Pro211=) rs35131566
NM_001378969.1(KCND3):c.660G>A (p.Glu220=) rs2101996879
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) rs61733426
NM_001378969.1(KCND3):c.969T>C (p.Phe323=) rs757012715
NM_001379286.1(ZNF423):c.100+14G>A
NM_001379286.1(ZNF423):c.100+18G>A
NM_001379286.1(ZNF423):c.101-4G>T rs2143391783
NM_001379286.1(ZNF423):c.1020C>T (p.Phe340=)
NM_001379286.1(ZNF423):c.1041C>T (p.Tyr347=) rs2151886352
NM_001379286.1(ZNF423):c.1044C>T (p.Cys348=)
NM_001379286.1(ZNF423):c.1068C>G (p.Pro356=) rs765544201
NM_001379286.1(ZNF423):c.1083C>T (p.His361=) rs201095265
NM_001379286.1(ZNF423):c.1095C>T (p.Pro365=) rs766653789
NM_001379286.1(ZNF423):c.1101T>C (p.Pro367=)
NM_001379286.1(ZNF423):c.1107G>T (p.Leu369=) rs1052587825
NM_001379286.1(ZNF423):c.1152C>T (p.Ala384=)
NM_001379286.1(ZNF423):c.1167C>T (p.Gly389=)
NM_001379286.1(ZNF423):c.1173C>T (p.Thr391=)
NM_001379286.1(ZNF423):c.1176G>C (p.Pro392=) rs748728165
NM_001379286.1(ZNF423):c.1194G>C (p.Pro398=)
NM_001379286.1(ZNF423):c.1194G>T (p.Pro398=) rs61747467
NM_001379286.1(ZNF423):c.1203G>A (p.Gly401=)
NM_001379286.1(ZNF423):c.1216C>A (p.Arg406=)
NM_001379286.1(ZNF423):c.1273C>A (p.Arg425=)
NM_001379286.1(ZNF423):c.1281T>C (p.Phe427=)
NM_001379286.1(ZNF423):c.1293C>T (p.Ala431=)
NM_001379286.1(ZNF423):c.1297C>T (p.Leu433=)
NM_001379286.1(ZNF423):c.1299G>A (p.Leu433=)
NM_001379286.1(ZNF423):c.1305C>T (p.Ile435=)
NM_001379286.1(ZNF423):c.1329C>T (p.Asp443=)
NM_001379286.1(ZNF423):c.1389C>T (p.Asn463=) rs777102272
NM_001379286.1(ZNF423):c.1395C>T (p.Asn465=)
NM_001379286.1(ZNF423):c.1410G>A (p.Lys470=)
NM_001379286.1(ZNF423):c.1422C>T (p.Asn474=) rs958714253
NM_001379286.1(ZNF423):c.1473C>T (p.Asn491=)
NM_001379286.1(ZNF423):c.147G>C (p.Ala49=) rs566780634
NM_001379286.1(ZNF423):c.147G>T (p.Ala49=)
NM_001379286.1(ZNF423):c.1509G>C (p.Leu503=)
NM_001379286.1(ZNF423):c.150G>A (p.Leu50=) rs2143390837
NM_001379286.1(ZNF423):c.1533C>T (p.His511=)
NM_001379286.1(ZNF423):c.1539C>G (p.Gly513=) rs2151885151
NM_001379286.1(ZNF423):c.1545C>T (p.Asn515=)
NM_001379286.1(ZNF423):c.1575C>T (p.Phe525=)
NM_001379286.1(ZNF423):c.165C>T (p.Ser55=)
NM_001379286.1(ZNF423):c.1668A>G (p.Leu556=) rs1596762843
NM_001379286.1(ZNF423):c.1716C>T (p.Ser572=) rs1254281045
NM_001379286.1(ZNF423):c.1728C>T (p.Cys576=) rs1555515498
NM_001379286.1(ZNF423):c.1749C>T (p.Gly583=)
NM_001379286.1(ZNF423):c.1755C>T (p.Ile585=)
NM_001379286.1(ZNF423):c.1776C>A (p.Ile592=)
NM_001379286.1(ZNF423):c.1794C>T (p.Asn598=)
NM_001379286.1(ZNF423):c.1833G>A (p.Gln611=)
NM_001379286.1(ZNF423):c.1842C>G (p.Val614=)
NM_001379286.1(ZNF423):c.1842C>T (p.Val614=) rs138341971
NM_001379286.1(ZNF423):c.1854G>A (p.Val618=)
NM_001379286.1(ZNF423):c.1860G>T (p.Val620=)
NM_001379286.1(ZNF423):c.1875G>A (p.Arg625=) rs989234689
NM_001379286.1(ZNF423):c.1884C>T (p.Leu628=)
NM_001379286.1(ZNF423):c.1908C>T (p.Ser636=)
NM_001379286.1(ZNF423):c.1983G>A (p.Leu661=) rs147999567
NM_001379286.1(ZNF423):c.1983G>C (p.Leu661=)
NM_001379286.1(ZNF423):c.2007G>A (p.Lys669=) rs2151884168
NM_001379286.1(ZNF423):c.2013G>T (p.Ala671=) rs143468235
NM_001379286.1(ZNF423):c.2022G>A (p.Gln674=) rs755306842
NM_001379286.1(ZNF423):c.2088G>A (p.Thr696=)
NM_001379286.1(ZNF423):c.2091G>A (p.Ser697=) rs1405918155
NM_001379286.1(ZNF423):c.2091G>C (p.Ser697=) rs1405918155
NM_001379286.1(ZNF423):c.2172C>A (p.Thr724=)
NM_001379286.1(ZNF423):c.2208C>A (p.Val736=) rs894972829
NM_001379286.1(ZNF423):c.2223G>A (p.Val741=) rs1450519928
NM_001379286.1(ZNF423):c.2343C>T (p.His781=) rs1427746481
NM_001379286.1(ZNF423):c.2352C>T (p.Asn784=)
NM_001379286.1(ZNF423):c.2355G>A (p.Pro785=) rs747133481
NM_001379286.1(ZNF423):c.237C>T (p.His79=) rs2143389347
NM_001379286.1(ZNF423):c.2391C>T (p.Thr797=) rs2151883293
NM_001379286.1(ZNF423):c.2397C>T (p.Ser799=) rs1972737338
NM_001379286.1(ZNF423):c.2421C>T (p.His807=) rs1292747676
NM_001379286.1(ZNF423):c.2439G>A (p.Lys813=)
NM_001379286.1(ZNF423):c.2503C>A (p.Arg835=)
NM_001379286.1(ZNF423):c.2529T>C (p.Ala843=)
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
NM_001379286.1(ZNF423):c.2535C>A (p.Thr845=) rs77996576
NM_001379286.1(ZNF423):c.2547G>A (p.Thr849=)
NM_001379286.1(ZNF423):c.2643G>A (p.Glu881=)
NM_001379286.1(ZNF423):c.2673G>A (p.Glu891=) rs761948812
NM_001379286.1(ZNF423):c.2682C>T (p.Tyr894=)
NM_001379286.1(ZNF423):c.2709C>T (p.Tyr903=) rs2151882457
NM_001379286.1(ZNF423):c.2739G>T (p.Arg913=) rs1272244156
NM_001379286.1(ZNF423):c.2754T>C (p.Asn918=)
NM_001379286.1(ZNF423):c.2766C>T (p.Gly922=)
NM_001379286.1(ZNF423):c.2769G>A (p.Glu923=) rs369901240
NM_001379286.1(ZNF423):c.2772T>C (p.Asp924=)
NM_001379286.1(ZNF423):c.2781A>G (p.Ser927=) rs1555514937
NM_001379286.1(ZNF423):c.2877G>C (p.Thr959=) rs201950383
NM_001379286.1(ZNF423):c.2880C>T (p.His960=) rs148363876
NM_001379286.1(ZNF423):c.2934G>T (p.Ser978=)
NM_001379286.1(ZNF423):c.2949C>G (p.Thr983=)
NM_001379286.1(ZNF423):c.2961G>A (p.Val987=) rs1972695299
NM_001379286.1(ZNF423):c.2985G>A (p.Thr995=) rs747416859
NM_001379286.1(ZNF423):c.2991C>T (p.Thr997=)
NM_001379286.1(ZNF423):c.3003C>T (p.Cys1001=) rs1159984493
NM_001379286.1(ZNF423):c.301+8A>C
NM_001379286.1(ZNF423):c.301+9A>G rs2143387957
NM_001379286.1(ZNF423):c.302-13C>G
NM_001379286.1(ZNF423):c.302-20CT[2]
NM_001379286.1(ZNF423):c.302-5T>G rs1972866463
NM_001379286.1(ZNF423):c.3108A>G (p.Thr1036=)
NM_001379286.1(ZNF423):c.3141C>T (p.Gly1047=)
NM_001379286.1(ZNF423):c.3168C>T (p.Gly1056=) rs988297156
NM_001379286.1(ZNF423):c.3183C>T (p.Ser1061=)
NM_001379286.1(ZNF423):c.3189C>T (p.Pro1063=) rs2151881362
NM_001379286.1(ZNF423):c.3228G>A (p.Leu1076=)
NM_001379286.1(ZNF423):c.3240G>A (p.Glu1080=)
NM_001379286.1(ZNF423):c.3270T>G (p.Leu1090=) rs1047769345
NM_001379286.1(ZNF423):c.3273C>T (p.Asp1091=)
NM_001379286.1(ZNF423):c.3315C>T (p.Ala1105=)
NM_001379286.1(ZNF423):c.3330A>G (p.Gly1110=)
NM_001379286.1(ZNF423):c.3354C>G (p.Pro1118=)
NM_001379286.1(ZNF423):c.3384C>A (p.Leu1128=)
NM_001379286.1(ZNF423):c.3402T>C (p.Ser1134=)
NM_001379286.1(ZNF423):c.3408G>A (p.Lys1136=)
NM_001379286.1(ZNF423):c.3420C>G (p.Ala1140=) rs138555234
NM_001379286.1(ZNF423):c.3465G>A (p.Thr1155=)
NM_001379286.1(ZNF423):c.3465G>T (p.Thr1155=) rs370113263
NM_001379286.1(ZNF423):c.3495C>A (p.Thr1165=)
NM_001379286.1(ZNF423):c.3513C>A (p.Pro1171=)
NM_001379286.1(ZNF423):c.3516+9A>G rs1235224105
NM_001379286.1(ZNF423):c.3517-19A>G
NM_001379286.1(ZNF423):c.3517-9T>C rs2151865195
NM_001379286.1(ZNF423):c.3555C>T (p.Phe1185=)
NM_001379286.1(ZNF423):c.3601+10C>T
NM_001379286.1(ZNF423):c.3601+4AG[2]
NM_001379286.1(ZNF423):c.3601+7G>C rs2151865024
NM_001379286.1(ZNF423):c.3601+8A>G
NM_001379286.1(ZNF423):c.3602-18C>A
NM_001379286.1(ZNF423):c.3602-32_3602-13dup
NM_001379286.1(ZNF423):c.3602-5T>C rs2151709010
NM_001379286.1(ZNF423):c.3621G>A (p.Glu1207=) rs1331148614
NM_001379286.1(ZNF423):c.3628C>T (p.Leu1210=)
NM_001379286.1(ZNF423):c.3657C>T (p.Ala1219=)
NM_001379286.1(ZNF423):c.372G>T (p.Thr124=) rs374791815
NM_001379286.1(ZNF423):c.3734-14G>A
NM_001379286.1(ZNF423):c.3734-19C>A
NM_001379286.1(ZNF423):c.3756G>A (p.Leu1252=) rs762410542
NM_001379286.1(ZNF423):c.375G>A (p.Gln125=)
NM_001379286.1(ZNF423):c.3816C>T (p.Cys1272=) rs1555503854
NM_001379286.1(ZNF423):c.3849+12C>T rs1968490152
NM_001379286.1(ZNF423):c.3849+16C>T
NM_001379286.1(ZNF423):c.3849+16del rs1968489668
NM_001379286.1(ZNF423):c.3849+19T>C rs2151705717
NM_001379286.1(ZNF423):c.3850-10G>A
NM_001379286.1(ZNF423):c.3850-11C>T
NM_001379286.1(ZNF423):c.3850-8C>T rs2151640507
NM_001379286.1(ZNF423):c.3852C>T (p.Asn1284=)
NM_001379286.1(ZNF423):c.3870C>T (p.His1290=)
NM_001379286.1(ZNF423):c.40+33072A>G
NM_001379286.1(ZNF423):c.40+33079G>T
NM_001379286.1(ZNF423):c.40+33080C>G
NM_001379286.1(ZNF423):c.41-14G>A
NM_001379286.1(ZNF423):c.41-18C>T
NM_001379286.1(ZNF423):c.41-4dup rs1239625311
NM_001379286.1(ZNF423):c.432G>A (p.Leu144=)
NM_001379286.1(ZNF423):c.432G>T (p.Leu144=)
NM_001379286.1(ZNF423):c.435A>G (p.Pro145=) rs1372138039
NM_001379286.1(ZNF423):c.546C>T (p.Leu182=)
NM_001379286.1(ZNF423):c.555C>T (p.His185=) rs1972852607
NM_001379286.1(ZNF423):c.573G>T (p.Arg191=) rs1972850800
NM_001379286.1(ZNF423):c.57C>G (p.Ala19=)
NM_001379286.1(ZNF423):c.588T>C (p.His196=)
NM_001379286.1(ZNF423):c.594C>T (p.Gly198=)
NM_001379286.1(ZNF423):c.603G>A (p.Lys201=)
NM_001379286.1(ZNF423):c.618G>A (p.Glu206=) rs1555516039
NM_001379286.1(ZNF423):c.621C>T (p.Cys207=) rs1379569101
NM_001379286.1(ZNF423):c.630C>G (p.Ala210=) rs186529267
NM_001379286.1(ZNF423):c.69G>A (p.Ser23=) rs375314927
NM_001379286.1(ZNF423):c.702G>A (p.Val234=)
NM_001379286.1(ZNF423):c.738G>A (p.Gln246=)
NM_001379286.1(ZNF423):c.741C>T (p.Ser247=)
NM_001379286.1(ZNF423):c.798C>T (p.Ala266=)
NM_001379286.1(ZNF423):c.849G>T (p.Thr283=) rs752433519
NM_001379286.1(ZNF423):c.867C>T (p.His289=)
NM_001379286.1(ZNF423):c.921C>T (p.His307=)
NM_001379286.1(ZNF423):c.924C>T (p.Cys308=)
NM_001379286.1(ZNF423):c.933C>T (p.Val311=)
NM_001379286.1(ZNF423):c.948C>T (p.Asn316=) rs2151886566
NM_001379286.1(ZNF423):c.963T>C (p.His321=) rs776865345
NM_001379286.1(ZNF423):c.984C>T (p.Asn328=)
NM_001382391.1(CSPP1):c.-10-13T>A
NM_001382391.1(CSPP1):c.-10-20A>G
NM_001382391.1(CSPP1):c.-10-5T>A rs770289522
NM_001382391.1(CSPP1):c.-103C>T rs202181896
NM_001382391.1(CSPP1):c.-106C>T rs2129538421
NM_001382391.1(CSPP1):c.-121A>C
NM_001382391.1(CSPP1):c.-139G>C
NM_001382391.1(CSPP1):c.-36C>T
NM_001382391.1(CSPP1):c.-43A>C
NM_001382391.1(CSPP1):c.-45_-42del rs762530713
NM_001382391.1(CSPP1):c.-73G>C
NM_001382391.1(CSPP1):c.-85T>C rs2129538434
NM_001382391.1(CSPP1):c.-91G>A rs200332502
NM_001382391.1(CSPP1):c.-94A>G rs1382795214
NM_001382391.1(CSPP1):c.100-11G>A
NM_001382391.1(CSPP1):c.100-12T>C
NM_001382391.1(CSPP1):c.1023-14C>T
NM_001382391.1(CSPP1):c.1023-16G>A
NM_001382391.1(CSPP1):c.1023-16_1023-13del
NM_001382391.1(CSPP1):c.1023-4T>G
NM_001382391.1(CSPP1):c.1023-9T>A
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
NM_001382391.1(CSPP1):c.1093+16C>A
NM_001382391.1(CSPP1):c.1093+16C>G
NM_001382391.1(CSPP1):c.1093+17del rs2129547787
NM_001382391.1(CSPP1):c.1094-6A>G
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) rs566786304
NM_001382391.1(CSPP1):c.1187+19T>A
NM_001382391.1(CSPP1):c.1187+7A>G
NM_001382391.1(CSPP1):c.1188-15T>G
NM_001382391.1(CSPP1):c.1188-20A>C
NM_001382391.1(CSPP1):c.1188-5T>A
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) rs775044108
NM_001382391.1(CSPP1):c.1245+14del rs760948267
NM_001382391.1(CSPP1):c.1245+22_1245+36del rs754206451
NM_001382391.1(CSPP1):c.1245+7G>A
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) rs1283210787
NM_001382391.1(CSPP1):c.1288-11_1288-8del
NM_001382391.1(CSPP1):c.1288-12T>C
NM_001382391.1(CSPP1):c.1288-12del
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) rs1817847996
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
NM_001382391.1(CSPP1):c.1497-6A>G
NM_001382391.1(CSPP1):c.1497-8T>C
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) rs2129551348
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) rs1818326006
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) rs2129551359
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
NM_001382391.1(CSPP1):c.1618+12A>G rs368578567
NM_001382391.1(CSPP1):c.1618+15G>T
NM_001382391.1(CSPP1):c.1618+20A>C rs756484052
NM_001382391.1(CSPP1):c.1618+8A>G
NM_001382391.1(CSPP1):c.1619-13T>C
NM_001382391.1(CSPP1):c.1619-8T>C rs2129551458
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) rs1470629361
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
NM_001382391.1(CSPP1):c.1698-12T>C
NM_001382391.1(CSPP1):c.1698-13_1698-12del
NM_001382391.1(CSPP1):c.1698-4G>C
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) rs1036498137
NM_001382391.1(CSPP1):c.1828-11A>G
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) rs1822589349
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) rs561521861
NM_001382391.1(CSPP1):c.1975+18A>C
NM_001382391.1(CSPP1):c.1976-20G>A
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
NM_001382391.1(CSPP1):c.199+14T>A rs2129541674
NM_001382391.1(CSPP1):c.200-13_200-11del rs766452341
NM_001382391.1(CSPP1):c.200-13del
NM_001382391.1(CSPP1):c.200-18_200-16del
NM_001382391.1(CSPP1):c.200-5T>C
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) rs2129558010
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) rs1375950004
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
NM_001382391.1(CSPP1):c.2128+11A>C
NM_001382391.1(CSPP1):c.2128+23_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+24_2128+36del
NM_001382391.1(CSPP1):c.2128+7_2128+25del rs2129558020
NM_001382391.1(CSPP1):c.2129-4C>G
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) rs887024306
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) rs1826220671
NM_001382391.1(CSPP1):c.2241+15G>A
NM_001382391.1(CSPP1):c.2241+19A>C
NM_001382391.1(CSPP1):c.2241+20_2241+25del rs2129559087
NM_001382391.1(CSPP1):c.2242-13T>C
NM_001382391.1(CSPP1):c.2242-18_2242-15del rs747115433
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) rs2129560136
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) rs1827105533
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) rs2129560142
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) rs2129560155
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) rs754878483
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
NM_001382391.1(CSPP1):c.2392-12T>G rs1322610870
NM_001382391.1(CSPP1):c.2392-17_2392-12del rs763447128
NM_001382391.1(CSPP1):c.2392-8T>C
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) rs1209655756
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) rs1312436989
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
NM_001382391.1(CSPP1):c.2538+13C>A
NM_001382391.1(CSPP1):c.2538+18A>G
NM_001382391.1(CSPP1):c.2538+19T>C
NM_001382391.1(CSPP1):c.2538+20G>A
NM_001382391.1(CSPP1):c.2539-13_2539-4del rs753606187
NM_001382391.1(CSPP1):c.2539-8T>A
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
NM_001382391.1(CSPP1):c.2643+11T>C
NM_001382391.1(CSPP1):c.2643+16T>A
NM_001382391.1(CSPP1):c.2644-11T>C
NM_001382391.1(CSPP1):c.2644-12A>G rs2129562431
NM_001382391.1(CSPP1):c.2644-15A>C
NM_001382391.1(CSPP1):c.2644-18G>C
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) rs2129562477
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) rs2129562485
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
NM_001382391.1(CSPP1):c.2711-13T>C
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) rs2129562840
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
NM_001382391.1(CSPP1):c.2828+16C>A rs749065903
NM_001382391.1(CSPP1):c.2828+20T>A rs2129562857
NM_001382391.1(CSPP1):c.2829-7T>C
NM_001382391.1(CSPP1):c.2829-8A>G
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) rs1586718478
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) rs1327593032
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.385-12T>A
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) rs1479574918
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) rs2129545446
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) rs2129545457
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) rs2129545515
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) rs1271272185
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) rs2129545545
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
NM_001382391.1(CSPP1):c.923+25_923+29del rs2129545562
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
NM_015046.7(SETX):c.1010+14A>C
NM_015046.7(SETX):c.1010+4_1010+7dup rs1222378139
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
NM_015046.7(SETX):c.1099-13del
NM_015046.7(SETX):c.1099-17C>T
NM_015046.7(SETX):c.1260T>C (p.Asp420=) rs2131462924
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.135T>A (p.Ala45=)
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
NM_015046.7(SETX):c.1536C>T (p.Ser512=) rs2131460559
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
NM_015046.7(SETX):c.159A>G (p.Glu53=) rs2131575185
NM_015046.7(SETX):c.160T>C (p.Leu54=)
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
NM_015046.7(SETX):c.162G>A (p.Leu54=) rs1175429740
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
NM_015046.7(SETX):c.1668G>A (p.Lys556=) rs1328865930
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly) rs770280073
NM_015046.7(SETX):c.174T>C (p.His58=) rs1470975448
NM_015046.7(SETX):c.178-19C>T
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr) rs768673354
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
NM_015046.7(SETX):c.1986C>T (p.Asn662=) rs1307680734
NM_015046.7(SETX):c.199T>C (p.Leu67=) rs2131558600
NM_015046.7(SETX):c.2037A>G (p.Leu679=) rs1432462823
NM_015046.7(SETX):c.207C>G (p.Leu69=)
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
NM_015046.7(SETX):c.2133G>A (p.Lys711=) rs746772505
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
NM_015046.7(SETX):c.2232A>C (p.Thr744=) rs749481788
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
NM_015046.7(SETX):c.24G>A (p.Thr8=)
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
NM_015046.7(SETX):c.267A>C (p.Ile89=)
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
NM_015046.7(SETX):c.273C>T (p.Asp91=)
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser) rs778882347
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.33T>C (p.Gly11=) rs1243832257
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3651G>A (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
NM_015046.7(SETX):c.388+19C>G
NM_015046.7(SETX):c.388+19C>T
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
NM_015046.7(SETX):c.389-20A>C rs1848060275
NM_015046.7(SETX):c.389-7T>C
NM_015046.7(SETX):c.389-8_389-6del
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
NM_015046.7(SETX):c.459T>C (p.His153=) rs774939461
NM_015046.7(SETX):c.474G>A (p.Leu158=)
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
NM_015046.7(SETX):c.498+10A>G
NM_015046.7(SETX):c.498+8dup
NM_015046.7(SETX):c.499-13_499-8dup
NM_015046.7(SETX):c.499-18_499-15del
NM_015046.7(SETX):c.499-8G>T
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
NM_015046.7(SETX):c.5097C>T (p.Asp1699=) rs1163054039
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
NM_015046.7(SETX):c.5160G>T (p.Gly1720=) rs763408913
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
NM_015046.7(SETX):c.528A>G (p.Arg176=)
NM_015046.7(SETX):c.5374+20A>G
NM_015046.7(SETX):c.5375-20G>T
NM_015046.7(SETX):c.5375-9G>A
NM_015046.7(SETX):c.5375-9G>C rs1239409311
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
NM_015046.7(SETX):c.5505A>G (p.Glu1835=) rs2131305953
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
NM_015046.7(SETX):c.5549-5G>A
NM_015046.7(SETX):c.5549-6T>C
NM_015046.7(SETX):c.5604G>A (p.Pro1868=) rs373607369
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
NM_015046.7(SETX):c.5637A>T (p.Val1879=) rs2131295454
NM_015046.7(SETX):c.567A>G (p.Leu189=)
NM_015046.7(SETX):c.5781+7G>A
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) rs1298267771
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
NM_015046.7(SETX):c.5949+13G>A
NM_015046.7(SETX):c.5949+13G>T rs2131289221
NM_015046.7(SETX):c.5950-11G>A
NM_015046.7(SETX):c.5950-20G>A
NM_015046.7(SETX):c.5950-4G>A
NM_015046.7(SETX):c.5950-5T>C
NM_015046.7(SETX):c.5964G>A (p.Gly1988=) rs775658101
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
NM_015046.7(SETX):c.6106+8dup
NM_015046.7(SETX):c.6107-19C>T
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
NM_015046.7(SETX):c.6159T>C (p.Asn2053=) rs2131248104
NM_015046.7(SETX):c.6208+17G>T
NM_015046.7(SETX):c.6209-18_6209-15del
NM_015046.7(SETX):c.6209-7_6209-6insG rs2131246566
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
NM_015046.7(SETX):c.6384T>A (p.Ser2128=) rs2131234628
NM_015046.7(SETX):c.6390T>C (p.Ile2130=) rs2131234539
NM_015046.7(SETX):c.6397-17A>C
NM_015046.7(SETX):c.6397-20T>C
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
NM_015046.7(SETX):c.6547-11A>G
NM_015046.7(SETX):c.6547-15del
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) rs2131200445
NM_015046.7(SETX):c.6654+9_6654+11del
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
NM_015046.7(SETX):c.6842+15T>A
NM_015046.7(SETX):c.6842+19T>C
NM_015046.7(SETX):c.6843-4A>T rs1466427179
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
NM_015046.7(SETX):c.6936-8T>A
NM_015046.7(SETX):c.7041T>C (p.His2347=)
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
NM_015046.7(SETX):c.708C>T (p.Ser236=)
NM_015046.7(SETX):c.7100+19T>C
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
NM_015046.7(SETX):c.7146G>A (p.Lys2382=) rs2131148463
NM_015046.7(SETX):c.7164G>A (p.Thr2388=) rs368602563
NM_015046.7(SETX):c.718+11T>A
NM_015046.7(SETX):c.718+13C>T
NM_015046.7(SETX):c.718+16A>C rs769647958
NM_015046.7(SETX):c.718+18A>C rs773630853
NM_015046.7(SETX):c.719-17T>G rs140720865
NM_015046.7(SETX):c.719-17dup
NM_015046.7(SETX):c.719-18C>T
NM_015046.7(SETX):c.7199+14_7199+16del
NM_015046.7(SETX):c.7199+17G>T rs768161524
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
NM_015046.7(SETX):c.7281C>G (p.Thr2427=) rs1482971726
NM_015046.7(SETX):c.7288-14C>T
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
NM_015046.7(SETX):c.742C>T (p.Leu248Phe) rs748358261
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
NM_015046.7(SETX):c.7458C>G (p.Pro2486=) rs2131114205
NM_015046.7(SETX):c.7494A>C (p.Gly2498=) rs1404779640
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.75T>G (p.Thr25=) rs1589791526
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
NM_015046.7(SETX):c.7713T>C (p.Pro2571=) rs2131112226
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
NM_015046.7(SETX):c.792T>C (p.Asn264=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) rs1471003365
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015046.7(SETX):c.838+10T>G rs2131491563
NM_015046.7(SETX):c.839-14C>T
NM_015046.7(SETX):c.839-20A>G
NM_015046.7(SETX):c.879T>C (p.Phe293=)
NM_015046.7(SETX):c.912C>T (p.Val304=) rs1473756878
NM_015046.7(SETX):c.951C>T (p.Thr317=) rs1025452911
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_016373.4(WWOX):c.1011G>C (p.Val337=) rs773816992
NM_016373.4(WWOX):c.1021C>T (p.Leu341=) rs201616456
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
NM_016373.4(WWOX):c.1047C>A (p.Thr349=) rs940453353
NM_016373.4(WWOX):c.1050G>A (p.Lys350=) rs2151386362
NM_016373.4(WWOX):c.1056+13C>A
NM_016373.4(WWOX):c.1056+18G>A
NM_016373.4(WWOX):c.1056+20C>T
NM_016373.4(WWOX):c.1056+7_1056+9del
NM_016373.4(WWOX):c.1057-10G>C
NM_016373.4(WWOX):c.1057-13_1057-11del
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
NM_016373.4(WWOX):c.1057-17_1057-14del rs750753794
NM_016373.4(WWOX):c.1057-18_1057-17dup rs1412456452
NM_016373.4(WWOX):c.1057-20C>T
NM_016373.4(WWOX):c.1057-22_1057-19del
NM_016373.4(WWOX):c.1057-22_1057-20del rs2150867224
NM_016373.4(WWOX):c.1057-7T>C
NM_016373.4(WWOX):c.1057-9G>C
NM_016373.4(WWOX):c.1057-9_1057-6dup rs2150867300
NM_016373.4(WWOX):c.107+10C>G
NM_016373.4(WWOX):c.107+10C>T
NM_016373.4(WWOX):c.107+12G>C
NM_016373.4(WWOX):c.107+13C>T
NM_016373.4(WWOX):c.107+15G>A
NM_016373.4(WWOX):c.107+17G>C
NM_016373.4(WWOX):c.1077C>G (p.Thr359=) rs150912992
NM_016373.4(WWOX):c.108-12G>C
NM_016373.4(WWOX):c.108-12_108-11del rs756598479
NM_016373.4(WWOX):c.108-12_108-6del
NM_016373.4(WWOX):c.108-14T>C
NM_016373.4(WWOX):c.108-19A>T
NM_016373.4(WWOX):c.108-20G>A rs760210735
NM_016373.4(WWOX):c.108-7T>C rs2151665632
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
NM_016373.4(WWOX):c.1086T>C (p.Cys362=) rs755448649
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
NM_016373.4(WWOX):c.1110T>A (p.Gly370=) rs901897952
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
NM_016373.4(WWOX):c.1113G>T (p.Leu371=) rs2150867604
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
NM_016373.4(WWOX):c.1128C>T (p.Phe376=) rs1417388410
NM_016373.4(WWOX):c.1155A>C (p.Ser385=) rs1414101968
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
NM_016373.4(WWOX):c.1185G>C (p.Arg395=) rs1296581246
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) rs923268639
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
NM_016373.4(WWOX):c.1191G>C (p.Leu397=) rs749223740
NM_016373.4(WWOX):c.1197G>T (p.Ala399=) rs376935572
NM_016373.4(WWOX):c.1206G>A (p.Glu402=) rs923748427
NM_016373.4(WWOX):c.1209G>A (p.Arg403=) rs764726398
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
NM_016373.4(WWOX):c.1230C>G (p.Gly410=) rs778834456
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
NM_016373.4(WWOX):c.1239C>G (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.1242C>T (p.Gly414=) rs557367276
NM_016373.4(WWOX):c.12G>A (p.Leu4=) rs2151651643
NM_016373.4(WWOX):c.138T>C (p.His46=)
NM_016373.4(WWOX):c.160C>A (p.Arg54=) rs587777248
NM_016373.4(WWOX):c.165G>A (p.Val55=)
NM_016373.4(WWOX):c.172+10T>A rs2032295814
NM_016373.4(WWOX):c.172+15G>T
NM_016373.4(WWOX):c.172+17C>G
NM_016373.4(WWOX):c.172+9G>A rs1220647416
NM_016373.4(WWOX):c.173-10T>G rs960259890
NM_016373.4(WWOX):c.173-12C>G
NM_016373.4(WWOX):c.173-14T>G
NM_016373.4(WWOX):c.173-20C>G
NM_016373.4(WWOX):c.173-4T>G
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
NM_016373.4(WWOX):c.228T>A (p.Val76=) rs370579498
NM_016373.4(WWOX):c.230+9C>T rs1254974575
NM_016373.4(WWOX):c.231-10T>C
NM_016373.4(WWOX):c.231-16T>C rs376333974
NM_016373.4(WWOX):c.231-17C>A rs372361154
NM_016373.4(WWOX):c.231-17C>T
NM_016373.4(WWOX):c.231-18G>T
NM_016373.4(WWOX):c.231-7T>C
NM_016373.4(WWOX):c.231-8T>G rs776271651
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
NM_016373.4(WWOX):c.294G>C (p.Pro98=) rs200208343
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
NM_016373.4(WWOX):c.30C>T (p.Asp10=) rs373146723
NM_016373.4(WWOX):c.310C>A (p.Arg104=) rs750226191
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
NM_016373.4(WWOX):c.36G>A (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>C (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.36G>T (p.Thr12=) rs1438602210
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
NM_016373.4(WWOX):c.409+10T>C rs2151674977
NM_016373.4(WWOX):c.409+16A>G rs12934985
NM_016373.4(WWOX):c.409+16A>T rs12934985
NM_016373.4(WWOX):c.409+16_409+17delinsCA rs2151674999
NM_016373.4(WWOX):c.409+17G>T rs771445250
NM_016373.4(WWOX):c.409+8C>G
NM_016373.4(WWOX):c.410-14C>T
NM_016373.4(WWOX):c.410-15T>A
NM_016373.4(WWOX):c.410-4A>G rs183410581
NM_016373.4(WWOX):c.410-6C>T rs1488901499
NM_016373.4(WWOX):c.411G>T (p.Gly137=) rs1172090882
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
NM_016373.4(WWOX):c.45G>A (p.Glu15=) rs770319919
NM_016373.4(WWOX):c.462C>G (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.462C>T (p.Ala154=) rs1167825014
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
NM_016373.4(WWOX):c.480G>A (p.Arg160=) rs919851150
NM_016373.4(WWOX):c.483G>A (p.Ala161=) rs143067173
NM_016373.4(WWOX):c.495G>C (p.Val165=)
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
NM_016373.4(WWOX):c.516+12A>G
NM_016373.4(WWOX):c.516+14T>A rs779863445
NM_016373.4(WWOX):c.516+14TGT[2] rs757933432
NM_016373.4(WWOX):c.516+16T>C
NM_016373.4(WWOX):c.516+19T>A rs2034899735
NM_016373.4(WWOX):c.516+6_516+7delinsCT rs2151735603
NM_016373.4(WWOX):c.517-10C>T
NM_016373.4(WWOX):c.517-11T>C rs2151934076
NM_016373.4(WWOX):c.517-12C>A rs373188700
NM_016373.4(WWOX):c.517-19T>C rs1057518552
NM_016373.4(WWOX):c.517-20T>C rs2151934070
NM_016373.4(WWOX):c.517-4G>A
NM_016373.4(WWOX):c.517-4G>C
NM_016373.4(WWOX):c.517-6T>C
NM_016373.4(WWOX):c.517-8C>T
NM_016373.4(WWOX):c.517-9T>C
NM_016373.4(WWOX):c.531A>G (p.Val177=) rs1451196383
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
NM_016373.4(WWOX):c.552C>G (p.Leu184=) rs199715254
NM_016373.4(WWOX):c.555T>A (p.Ala185=) rs748722105
NM_016373.4(WWOX):c.556C>T (p.Leu186=) rs772539448
NM_016373.4(WWOX):c.558G>A (p.Leu186=) rs1464156122
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
NM_016373.4(WWOX):c.605+10C>A rs201186695
NM_016373.4(WWOX):c.605+12A>T
NM_016373.4(WWOX):c.605+13G>A
NM_016373.4(WWOX):c.605+18G>A
NM_016373.4(WWOX):c.605+7G>A rs900076277
NM_016373.4(WWOX):c.605+7G>C
NM_016373.4(WWOX):c.605+9T>G
NM_016373.4(WWOX):c.606-14A>G
NM_016373.4(WWOX):c.618G>C (p.Val206=) rs376279847
NM_016373.4(WWOX):c.624G>T (p.Val208=)
NM_016373.4(WWOX):c.633A>G (p.Ala211=) rs1597215838
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
NM_016373.4(WWOX):c.690A>G (p.Gln230=) rs372408512
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
NM_016373.4(WWOX):c.729C>G (p.Leu243=) rs2083042980
NM_016373.4(WWOX):c.72G>A (p.Glu24=) rs1255601873
NM_016373.4(WWOX):c.744C>T (p.Cys248=) rs1597216164
NM_016373.4(WWOX):c.759C>A (p.Ala253=) rs1363794629
NM_016373.4(WWOX):c.765C>A (p.Val255=) rs1232507130
NM_016373.4(WWOX):c.765C>G (p.Val255=)
NM_016373.4(WWOX):c.774C>G (p.Val258=) rs1597216285
NM_016373.4(WWOX):c.780A>G (p.Ser260=) rs2083044569
NM_016373.4(WWOX):c.789T>C (p.His263=) rs2083044812
NM_016373.4(WWOX):c.791+15C>A
NM_016373.4(WWOX):c.791+15C>T
NM_016373.4(WWOX):c.791+16A>G rs2083045240
NM_016373.4(WWOX):c.791+20T>C
NM_016373.4(WWOX):c.792-15T>C rs769065057
NM_016373.4(WWOX):c.792-16A>G
NM_016373.4(WWOX):c.792-20T>C rs2151385825
NM_016373.4(WWOX):c.798A>G (p.Thr266=) rs377727422
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
NM_016373.4(WWOX):c.823C>T (p.Leu275=) rs1272996029
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
NM_016373.4(WWOX):c.867G>C (p.Ala289=) rs755002954
NM_016373.4(WWOX):c.871C>T (p.Leu291=) rs1230337512
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
NM_016373.4(WWOX):c.90C>T (p.Gly30=) rs772839022
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
NM_016373.4(WWOX):c.915C>T (p.Asn305=) rs201818301
NM_016373.4(WWOX):c.918G>A (p.Glu306=) rs2151386096
NM_016373.4(WWOX):c.919C>T (p.Leu307=) rs200320711
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
NM_016373.4(WWOX):c.924C>T (p.His308=)
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
NM_016373.4(WWOX):c.936C>T (p.Ser312=) rs2151386149
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
NM_016373.4(WWOX):c.945G>T (p.Gly315=) rs1232491002
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
NM_016373.4(WWOX):c.963G>A (p.Val321=)
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
NM_016373.4(WWOX):c.990C>T (p.Asn330=) rs117209694
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
NM_016373.4(WWOX):c.9G>A (p.Ala3=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=) rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup rs2135157730
NM_016464.5(TMEM138):c.129-19C>T rs2135157682
NM_016464.5(TMEM138):c.12C>T (p.Thr4=) rs376500080
NM_016464.5(TMEM138):c.195C>T (p.Val65=) rs2135158008
NM_016464.5(TMEM138):c.204T>C (p.Ala68=) rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=) rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=) rs2135162983
NM_016464.5(TMEM138):c.377-11C>T rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.768-15G>T
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.10053T>C (p.Thr3351=)
NM_182961.4(SYNE1):c.10071C>G (p.Pro3357=)
NM_182961.4(SYNE1):c.10092G>A (p.Gln3364=) rs2154076978
NM_182961.4(SYNE1):c.10182T>C (p.Tyr3394=) rs2154069329
NM_182961.4(SYNE1):c.10195C>A (p.Arg3399=)
NM_182961.4(SYNE1):c.1020G>A (p.Val340=)
NM_182961.4(SYNE1):c.10221T>C (p.Ser3407=)
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) rs145287138
NM_182961.4(SYNE1):c.10264C>T (p.Leu3422=)
NM_182961.4(SYNE1):c.10269G>C (p.Arg3423=)
NM_182961.4(SYNE1):c.10287C>T (p.Leu3429=)
NM_182961.4(SYNE1):c.10296C>A (p.Ala3432=) rs2096943229
NM_182961.4(SYNE1):c.10300-13A>T
NM_182961.4(SYNE1):c.10300-5T>C rs1295479380
NM_182961.4(SYNE1):c.10332C>T (p.Ser3444=)
NM_182961.4(SYNE1):c.10335G>A (p.Leu3445=)
NM_182961.4(SYNE1):c.10347C>T (p.Ile3449=)
NM_182961.4(SYNE1):c.10356A>G (p.Lys3452=) rs1318434658
NM_182961.4(SYNE1):c.10383C>T (p.Val3461=)
NM_182961.4(SYNE1):c.1048-7del rs2154296673
NM_182961.4(SYNE1):c.10488G>A (p.Glu3496=)
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=) rs527448479
NM_182961.4(SYNE1):c.10557A>G (p.Ser3519=)
NM_182961.4(SYNE1):c.10593A>G (p.Thr3531=)
NM_182961.4(SYNE1):c.10608+11C>T
NM_182961.4(SYNE1):c.10608+12T>A
NM_182961.4(SYNE1):c.10635G>A (p.Gly3545=)
NM_182961.4(SYNE1):c.10665C>T (p.Thr3555=) rs2154051145
NM_182961.4(SYNE1):c.10788G>T (p.Val3596=)
NM_182961.4(SYNE1):c.1086G>A (p.Arg362=)
NM_182961.4(SYNE1):c.10870A>G (p.Arg3624Gly) rs766081119
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser) rs149712464
NM_182961.4(SYNE1):c.10880G>A (p.Arg3627His) rs755667715
NM_182961.4(SYNE1):c.10927-14C>T rs2154047106
NM_182961.4(SYNE1):c.10927-19C>T rs765562019
NM_182961.4(SYNE1):c.10956A>G (p.Arg3652=)
NM_182961.4(SYNE1):c.11010C>T (p.His3670=) rs143673038
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.11067G>T (p.Leu3689=) rs2154046463
NM_182961.4(SYNE1):c.11082+14del rs2154046352
NM_182961.4(SYNE1):c.11082+8G>A
NM_182961.4(SYNE1):c.11091A>C (p.Ile3697=)
NM_182961.4(SYNE1):c.11166C>T (p.Gly3722=)
NM_182961.4(SYNE1):c.11172T>C (p.Thr3724=)
NM_182961.4(SYNE1):c.11248T>C (p.Leu3750=)
NM_182961.4(SYNE1):c.11253+8C>T
NM_182961.4(SYNE1):c.11391G>A (p.Leu3797=) rs2154039780
NM_182961.4(SYNE1):c.11398C>T (p.Leu3800=)
NM_182961.4(SYNE1):c.11439A>G (p.Lys3813=)
NM_182961.4(SYNE1):c.11581-20T>G
NM_182961.4(SYNE1):c.11616A>G (p.Ser3872=)
NM_182961.4(SYNE1):c.11664G>A (p.Gln3888=) rs1563267356
NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)
NM_182961.4(SYNE1):c.11685A>G (p.Lys3895=) rs774133216
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=) rs794727886
NM_182961.4(SYNE1):c.1176G>C (p.Val392=)
NM_182961.4(SYNE1):c.117T>C (p.Ser39=)
NM_182961.4(SYNE1):c.1185+8C>T
NM_182961.4(SYNE1):c.1186-14T>A rs1388629828
NM_182961.4(SYNE1):c.1186-15C>A
NM_182961.4(SYNE1):c.1188C>G (p.Leu396=) rs1252508397
NM_182961.4(SYNE1):c.11902-14T>C rs1192832505
NM_182961.4(SYNE1):c.11902-21_11902-19dup
NM_182961.4(SYNE1):c.11913A>G (p.Glu3971=)
NM_182961.4(SYNE1):c.11992C>T (p.Leu3998=)
NM_182961.4(SYNE1):c.12015C>T (p.Asn4005=) rs1370153399
NM_182961.4(SYNE1):c.12018G>T (p.Val4006=)
NM_182961.4(SYNE1):c.12060C>A (p.Ile4020=)
NM_182961.4(SYNE1):c.12079-15A>T
NM_182961.4(SYNE1):c.12168G>A (p.Gln4056=)
NM_182961.4(SYNE1):c.12213A>G (p.Glu4071=)
NM_182961.4(SYNE1):c.12219T>C (p.Ile4073=) rs2154018582
NM_182961.4(SYNE1):c.12225+16A>C
NM_182961.4(SYNE1):c.12234C>T (p.His4078=)
NM_182961.4(SYNE1):c.12270A>G (p.Leu4090=) rs1436148487
NM_182961.4(SYNE1):c.12285C>G (p.Ser4095=)
NM_182961.4(SYNE1):c.12309G>A (p.Ser4103=)
NM_182961.4(SYNE1):c.12351+19A>G
NM_182961.4(SYNE1):c.12408G>A (p.Lys4136=)
NM_182961.4(SYNE1):c.12444T>C (p.Asp4148=) rs2096403666
NM_182961.4(SYNE1):c.12489G>A (p.Leu4163=)
NM_182961.4(SYNE1):c.12528+8T>C rs1590375315
NM_182961.4(SYNE1):c.12546A>G (p.Leu4182=)
NM_182961.4(SYNE1):c.1254G>A (p.Leu418=)
NM_182961.4(SYNE1):c.1254G>T (p.Leu418=) rs777939640
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=) rs143851739
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.12606G>A (p.Lys4202=)
NM_182961.4(SYNE1):c.12636T>C (p.Asn4212=)
NM_182961.4(SYNE1):c.1263G>C (p.Ala421=) rs949049150
NM_182961.4(SYNE1):c.12684G>C (p.Leu4228=) rs2153982221
NM_182961.4(SYNE1):c.1269G>A (p.Val423=)
NM_182961.4(SYNE1):c.12795-14C>A
NM_182961.4(SYNE1):c.12852A>G (p.Ala4284=)
NM_182961.4(SYNE1):c.12876T>C (p.Ile4292=)
NM_182961.4(SYNE1):c.12897G>A (p.Lys4299=)
NM_182961.4(SYNE1):c.129+7G>A rs1219452466
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.12927T>C (p.Asp4309=)
NM_182961.4(SYNE1):c.12948A>G (p.Glu4316=) rs1590242706
NM_182961.4(SYNE1):c.12C>T (p.Ser4=)
NM_182961.4(SYNE1):c.130-13T>G
NM_182961.4(SYNE1):c.13002G>A (p.Arg4334=) rs2096250896
NM_182961.4(SYNE1):c.13023C>G (p.Thr4341=)
NM_182961.4(SYNE1):c.13191G>A (p.Lys4397=) rs2153974179
NM_182961.4(SYNE1):c.1323G>A (p.Thr441=) rs748132028
NM_182961.4(SYNE1):c.13257G>A (p.Glu4419=) rs777483692
NM_182961.4(SYNE1):c.13323G>T (p.Val4441=) rs770562637
NM_182961.4(SYNE1):c.13359C>T (p.Ser4453=)
NM_182961.4(SYNE1):c.1338T>C (p.Leu446=)
NM_182961.4(SYNE1):c.13422A>G (p.Arg4474=) rs1590231826
NM_182961.4(SYNE1):c.13443C>T (p.His4481=)
NM_182961.4(SYNE1):c.1351-15T>A rs750754911
NM_182961.4(SYNE1):c.1351-20T>A
NM_182961.4(SYNE1):c.1351-6T>C rs1441507558
NM_182961.4(SYNE1):c.13536A>T (p.Gly4512=)
NM_182961.4(SYNE1):c.13545C>T (p.Ala4515=) rs2153973054
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=) rs115535983
NM_182961.4(SYNE1):c.13626C>T (p.Val4542=) rs766469216
NM_182961.4(SYNE1):c.13725C>T (p.Cys4575=)
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
NM_182961.4(SYNE1):c.13845T>C (p.Tyr4615=)
NM_182961.4(SYNE1):c.13863G>T (p.Thr4621=)
NM_182961.4(SYNE1):c.13902T>C (p.Asn4634=)
NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)
NM_182961.4(SYNE1):c.14061G>T (p.Leu4687=) rs3734365
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.1413T>C (p.Ser471=)
NM_182961.4(SYNE1):c.1419C>T (p.Asn473=)
NM_182961.4(SYNE1):c.14226C>T (p.Ser4742=) rs2153970972
NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)
NM_182961.4(SYNE1):c.14331C>T (p.Thr4777=) rs768076321
NM_182961.4(SYNE1):c.14439G>A (p.Glu4813=)
NM_182961.4(SYNE1):c.14508C>T (p.Thr4836=)
NM_182961.4(SYNE1):c.14565G>A (p.Arg4855=)
NM_182961.4(SYNE1):c.14571G>A (p.Gln4857=) rs1327323805
NM_182961.4(SYNE1):c.1458C>A (p.Ala486=)
NM_182961.4(SYNE1):c.14619T>G (p.Gly4873=) rs1355049690
NM_182961.4(SYNE1):c.14664C>T (p.Asp4888=)
NM_182961.4(SYNE1):c.14739A>G (p.Leu4913=)
NM_182961.4(SYNE1):c.14751G>A (p.Leu4917=) rs769489729
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=) rs886044346
NM_182961.4(SYNE1):c.14829G>T (p.Ala4943=)
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.14883G>C (p.Ala4961=) rs539549948
NM_182961.4(SYNE1):c.14928C>T (p.Asp4976=) rs2153968669
NM_182961.4(SYNE1):c.14955+7A>G
NM_182961.4(SYNE1):c.14956-14T>G rs368344443
NM_182961.4(SYNE1):c.1498C>T (p.Leu500=)
NM_182961.4(SYNE1):c.1500A>G (p.Leu500=)
NM_182961.4(SYNE1):c.15045G>A (p.Leu5015=) rs2153955529
NM_182961.4(SYNE1):c.1516T>C (p.Leu506=) rs2154279133
NM_182961.4(SYNE1):c.15294-14T>C
NM_182961.4(SYNE1):c.15294-15T>C rs2153953166
NM_182961.4(SYNE1):c.15363A>G (p.Glu5121=) rs2153952873
NM_182961.4(SYNE1):c.1539C>G (p.Leu513=)
NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)
NM_182961.4(SYNE1):c.153C>T (p.Asp51=) rs779081280
NM_182961.4(SYNE1):c.15453G>A (p.Val5151=)
NM_182961.4(SYNE1):c.15516C>G (p.Thr5172=) rs777234795
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=) rs777234795
NM_182961.4(SYNE1):c.15540C>G (p.Thr5180=) rs748254961
NM_182961.4(SYNE1):c.15561C>A (p.Thr5187=) rs780148867
NM_182961.4(SYNE1):c.15561C>T (p.Thr5187=)
NM_182961.4(SYNE1):c.1557A>G (p.Ala519=)
NM_182961.4(SYNE1):c.15618G>A (p.Leu5206=) rs143034606
NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)
NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)
NM_182961.4(SYNE1):c.15657+19G>A
NM_182961.4(SYNE1):c.15657+7T>G
NM_182961.4(SYNE1):c.15658-12A>G
NM_182961.4(SYNE1):c.15658-16G>A
NM_182961.4(SYNE1):c.15729G>A (p.Ser5243=) rs1417590001
NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=) rs779480129
NM_182961.4(SYNE1):c.15771C>T (p.Phe5257=) rs763330101
NM_182961.4(SYNE1):c.15774T>A (p.Val5258=) rs2095952504
NM_182961.4(SYNE1):c.15798G>A (p.Ser5266=)
NM_182961.4(SYNE1):c.15816G>C (p.Arg5272=) rs762050069
NM_182961.4(SYNE1):c.15849C>G (p.Ala5283=)
NM_182961.4(SYNE1):c.15849C>T (p.Ala5283=) rs748953708
NM_182961.4(SYNE1):c.15858C>G (p.Thr5286=)
NM_182961.4(SYNE1):c.15897C>T (p.Ala5299=) rs1590061246
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=) rs771982103
NM_182961.4(SYNE1):c.16083+16_16083+18del rs756884141
NM_182961.4(SYNE1):c.16084-11C>A
NM_182961.4(SYNE1):c.16084-13A>G
NM_182961.4(SYNE1):c.16156T>C (p.Leu5386=) rs2095864787
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=) rs886043491
NM_182961.4(SYNE1):c.16236+7C>T
NM_182961.4(SYNE1):c.1623A>G (p.Gln541=)
NM_182961.4(SYNE1):c.16257A>G (p.Glu5419=)
NM_182961.4(SYNE1):c.16278G>T (p.Thr5426=)
NM_182961.4(SYNE1):c.16294C>A (p.Arg5432=) rs575137601
NM_182961.4(SYNE1):c.1632+12G>A
NM_182961.4(SYNE1):c.1632+7C>A rs779081729
NM_182961.4(SYNE1):c.16326A>G (p.Thr5442=)
NM_182961.4(SYNE1):c.16383C>T (p.Asp5461=)
NM_182961.4(SYNE1):c.16390-6A>G rs886043083
NM_182961.4(SYNE1):c.16410T>C (p.Asp5470=)
NM_182961.4(SYNE1):c.16434A>G (p.Glu5478=)
NM_182961.4(SYNE1):c.16443A>C (p.Ala5481=) rs1255821455
NM_182961.4(SYNE1):c.16461G>A (p.Leu5487=)
NM_182961.4(SYNE1):c.16551T>C (p.Asn5517=)
NM_182961.4(SYNE1):c.16573-11T>C
NM_182961.4(SYNE1):c.16578A>G (p.Ala5526=) rs1589922810
NM_182961.4(SYNE1):c.16584T>C (p.His5528=)
NM_182961.4(SYNE1):c.16618T>C (p.Leu5540=) rs2153893153
NM_182961.4(SYNE1):c.16662T>C (p.Ile5554=) rs2153892983
NM_182961.4(SYNE1):c.16711-4C>G rs2153837083
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
NM_182961.4(SYNE1):c.1680C>T (p.Tyr560=)
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
NM_182961.4(SYNE1):c.16897-20C>T
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=) rs1554410681
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=) rs771166232
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) rs145899734
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=) rs2153836703
NM_182961.4(SYNE1):c.17019+7C>T rs2095511412
NM_182961.4(SYNE1):c.17020-10G>A rs1307856395
NM_182961.4(SYNE1):c.17020-12T>G rs1236300785
NM_182961.4(SYNE1):c.17020-9C>A rs2153836238
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=) rs2153836101
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=) rs138941941
NM_182961.4(SYNE1):c.17202+16C>T
NM_182961.4(SYNE1):c.17203-15T>G
NM_182961.4(SYNE1):c.17203-3A>T rs1156531105
NM_182961.4(SYNE1):c.17203-8T>C
NM_182961.4(SYNE1):c.1729+8A>C
NM_182961.4(SYNE1):c.17322G>A (p.Leu5774=) rs752995421
NM_182961.4(SYNE1):c.17346+16G>A
NM_182961.4(SYNE1):c.17346+18G>A
NM_182961.4(SYNE1):c.17347-5C>T rs886043152
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=) rs754642929
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17541+12G>T
NM_182961.4(SYNE1):c.17541+13_17541+15del
NM_182961.4(SYNE1):c.17541+17T>A
NM_182961.4(SYNE1):c.17586G>A (p.Glu5862=) rs186716473
NM_182961.4(SYNE1):c.17610C>T (p.Asn5870=)
NM_182961.4(SYNE1):c.17652T>C (p.Pro5884=)
NM_182961.4(SYNE1):c.17661T>C (p.Asn5887=)
NM_182961.4(SYNE1):c.17683-18T>C
NM_182961.4(SYNE1):c.17703C>T (p.Ala5901=)
NM_182961.4(SYNE1):c.1770C>T (p.Thr590=)
NM_182961.4(SYNE1):c.17716A>C (p.Arg5906=) rs1178186821
NM_182961.4(SYNE1):c.17733T>G (p.Ala5911=) rs1240369601
NM_182961.4(SYNE1):c.1773C>T (p.Thr591=)
NM_182961.4(SYNE1):c.17748C>T (p.Pro5916=)
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=) rs997194150
NM_182961.4(SYNE1):c.17796C>T (p.Ser5932=) rs531884117
NM_182961.4(SYNE1):c.17839T>C (p.Leu5947=) rs2153785123
NM_182961.4(SYNE1):c.17851-6G>A
NM_182961.4(SYNE1):c.17865G>A (p.Gln5955=)
NM_182961.4(SYNE1):c.17925C>A (p.Ile5975=)
NM_182961.4(SYNE1):c.17943C>T (p.Ala5981=)
NM_182961.4(SYNE1):c.1794A>G (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.17964G>A (p.Glu5988=) rs1589457034
NM_182961.4(SYNE1):c.18012+12del
NM_182961.4(SYNE1):c.18016T>C (p.Leu6006=) rs1589316417
NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)
NM_182961.4(SYNE1):c.18078G>A (p.Glu6026=)
NM_182961.4(SYNE1):c.180T>A (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.180T>C (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.180T>G (p.Gly60=) rs761395846
NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=) rs1057523204
NM_182961.4(SYNE1):c.18202T>C (p.Leu6068=) rs995318683
NM_182961.4(SYNE1):c.18208-26_18208-12del
NM_182961.4(SYNE1):c.18240G>A (p.Arg6080=) rs567954466
NM_182961.4(SYNE1):c.18259A>C (p.Arg6087=) rs2153724903
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=) rs2153724828
NM_182961.4(SYNE1):c.18381+12G>C rs1405193041
NM_182961.4(SYNE1):c.18381+9dup rs1160319452
NM_182961.4(SYNE1):c.18382-19_18382-17dup rs1379525352
NM_182961.4(SYNE1):c.18382-9T>C
NM_182961.4(SYNE1):c.18414G>A (p.Val6138=)
NM_182961.4(SYNE1):c.18447C>T (p.Asn6149=) rs374468447
NM_182961.4(SYNE1):c.18459G>A (p.Glu6153=)
NM_182961.4(SYNE1):c.18486C>G (p.Ala6162=) rs140168690
NM_182961.4(SYNE1):c.18528G>C (p.Leu6176=)
NM_182961.4(SYNE1):c.18573+13G>C
NM_182961.4(SYNE1):c.18574-11G>A rs1477560269
NM_182961.4(SYNE1):c.18574-11G>C
NM_182961.4(SYNE1):c.18574-12C>T
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=) rs1267116175
NM_182961.4(SYNE1):c.18588G>A (p.Glu6196=)
NM_182961.4(SYNE1):c.18633C>G (p.Gly6211=)
NM_182961.4(SYNE1):c.186A>G (p.Lys62=) rs768365924
NM_182961.4(SYNE1):c.18705+7T>C rs2153679057
NM_182961.4(SYNE1):c.18706-12T>C
NM_182961.4(SYNE1):c.18720A>G (p.Glu6240=)
NM_182961.4(SYNE1):c.18726C>T (p.Ala6242=)
NM_182961.4(SYNE1):c.18759T>C (p.Ser6253=) rs2153673156
NM_182961.4(SYNE1):c.18789G>T (p.Ser6263=)
NM_182961.4(SYNE1):c.18815+8T>C rs2153672915
NM_182961.4(SYNE1):c.18844T>C (p.Leu6282=)
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=) rs776505129
NM_182961.4(SYNE1):c.18864A>G (p.Lys6288=)
NM_182961.4(SYNE1):c.1890G>A (p.Glu630=)
NM_182961.4(SYNE1):c.18945T>C (p.Asn6315=)
NM_182961.4(SYNE1):c.18981C>T (p.Ser6327=)
NM_182961.4(SYNE1):c.19071A>T (p.Gly6357=)
NM_182961.4(SYNE1):c.19104+11G>A rs1210886004
NM_182961.4(SYNE1):c.19105-16G>A
NM_182961.4(SYNE1):c.19105-19C>T
NM_182961.4(SYNE1):c.19155T>C (p.Asp6385=) rs2153623542
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)
NM_182961.4(SYNE1):c.19170C>G (p.Thr6390=)
NM_182961.4(SYNE1):c.19176T>G (p.Thr6392=) rs2153623427
NM_182961.4(SYNE1):c.19218A>C (p.Ala6406=) rs199869602
NM_182961.4(SYNE1):c.19260+10G>A
NM_182961.4(SYNE1):c.19260+20C>T
NM_182961.4(SYNE1):c.19261-19G>T
NM_182961.4(SYNE1):c.19293A>G (p.Glu6431=)
NM_182961.4(SYNE1):c.1932+17C>A
NM_182961.4(SYNE1):c.1932+19A>G
NM_182961.4(SYNE1):c.1932+9G>T rs746181375
NM_182961.4(SYNE1):c.1933-6G>T rs1451399398
NM_182961.4(SYNE1):c.1933-8T>C rs2154267701
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=) rs749079132
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=) rs886044212
NM_182961.4(SYNE1):c.19410A>G (p.Ser6470=)
NM_182961.4(SYNE1):c.19422A>G (p.Gln6474=)
NM_182961.4(SYNE1):c.19446A>G (p.Arg6482=)
NM_182961.4(SYNE1):c.19467C>T (p.Phe6489=) rs919585920
NM_182961.4(SYNE1):c.19470+13T>A
NM_182961.4(SYNE1):c.19470+14T>C
NM_182961.4(SYNE1):c.19470+14_19470+16del
NM_182961.4(SYNE1):c.19471-13C>T rs1161750776
NM_182961.4(SYNE1):c.19488G>A (p.Leu6496=) rs1393141949
NM_182961.4(SYNE1):c.19572+15C>T
NM_182961.4(SYNE1):c.19584G>A (p.Gln6528=)
NM_182961.4(SYNE1):c.19627T>C (p.Leu6543=)
NM_182961.4(SYNE1):c.19686G>A (p.Lys6562=) rs1562462293
NM_182961.4(SYNE1):c.19692+7C>G
NM_182961.4(SYNE1):c.19693-19T>C
NM_182961.4(SYNE1):c.19693-20T>C rs2153563935
NM_182961.4(SYNE1):c.19779G>A (p.Arg6593=)
NM_182961.4(SYNE1):c.19812T>C (p.Thr6604=)
NM_182961.4(SYNE1):c.19815T>C (p.Gly6605=) rs776418227
NM_182961.4(SYNE1):c.19863G>A (p.Glu6621=) rs2153563113
NM_182961.4(SYNE1):c.1986T>C (p.Asp662=) rs754185293
NM_182961.4(SYNE1):c.19893+18G>T rs1306460593
NM_182961.4(SYNE1):c.19894-17T>C
NM_182961.4(SYNE1):c.19894-20T>C
NM_182961.4(SYNE1):c.19914A>G (p.Glu6638=)
NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)
NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)
NM_182961.4(SYNE1):c.20067+18A>C rs186247729
NM_182961.4(SYNE1):c.20067+18A>G
NM_182961.4(SYNE1):c.20067+18A>T
NM_182961.4(SYNE1):c.20068-13G>A
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)
NM_182961.4(SYNE1):c.20178T>A (p.Ile6726=) rs1588441873
NM_182961.4(SYNE1):c.20190A>G (p.Thr6730=) rs1244012304
NM_182961.4(SYNE1):c.20200-8T>C
NM_182961.4(SYNE1):c.20208A>G (p.Lys6736=) rs1020385567
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=) rs1593222147
NM_182961.4(SYNE1):c.20396+18T>C rs2153534765
NM_182961.4(SYNE1):c.20397-11A>G
NM_182961.4(SYNE1):c.20397-16A>G
NM_182961.4(SYNE1):c.20419C>T (p.Leu6807=)
NM_182961.4(SYNE1):c.20460T>C (p.Phe6820=)
NM_182961.4(SYNE1):c.20514T>C (p.His6838=) rs2153528771
NM_182961.4(SYNE1):c.20529+7C>A
NM_182961.4(SYNE1):c.20530-16T>A rs2083385032
NM_182961.4(SYNE1):c.20530-19A>G
NM_182961.4(SYNE1):c.20530-9T>A rs2153525429
NM_182961.4(SYNE1):c.20580G>A (p.Leu6860=) rs188203038
NM_182961.4(SYNE1):c.20580G>C (p.Leu6860=)
NM_182961.4(SYNE1):c.20586T>C (p.Thr6862=) rs2083373670
NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)
NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)
NM_182961.4(SYNE1):c.2067G>A (p.Arg689=) rs2154267528
NM_182961.4(SYNE1):c.20757C>T (p.Val6919=)
NM_182961.4(SYNE1):c.20796G>A (p.Lys6932=)
NM_182961.4(SYNE1):c.20829C>T (p.Tyr6943=) rs1327298373
NM_182961.4(SYNE1):c.20863-12dup
NM_182961.4(SYNE1):c.20863-7T>G
NM_182961.4(SYNE1):c.20919C>T (p.Ser6973=)
NM_182961.4(SYNE1):c.20961T>C (p.Ser6987=)
NM_182961.4(SYNE1):c.2097+20A>C rs201761319
NM_182961.4(SYNE1):c.2097+20A>G
NM_182961.4(SYNE1):c.20985A>G (p.Gln6995=)
NM_182961.4(SYNE1):c.21039+12G>A
NM_182961.4(SYNE1):c.21039+17C>T
NM_182961.4(SYNE1):c.21039+8A>G
NM_182961.4(SYNE1):c.21040-6G>A
NM_182961.4(SYNE1):c.21069T>A (p.Ser7023=)
NM_182961.4(SYNE1):c.21141A>G (p.Gln7047=)
NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)
NM_182961.4(SYNE1):c.21352-20A>G
NM_182961.4(SYNE1):c.21352-7T>G rs756684680
NM_182961.4(SYNE1):c.21405C>T (p.His7135=) rs2153478766
NM_182961.4(SYNE1):c.21414C>G (p.Ala7138=) rs144904215
NM_182961.4(SYNE1):c.21447C>T (p.Ala7149=)
NM_182961.4(SYNE1):c.21453C>T (p.Tyr7151=)
NM_182961.4(SYNE1):c.21522+14T>C
NM_182961.4(SYNE1):c.21522+18C>T rs1588175016
NM_182961.4(SYNE1):c.21523-11T>C
NM_182961.4(SYNE1):c.21523-6G>C rs774046000
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
NM_182961.4(SYNE1):c.21711A>G (p.Leu7237=)
NM_182961.4(SYNE1):c.21717G>A (p.Gln7239=)
NM_182961.4(SYNE1):c.21793C>T (p.Leu7265=) rs2153463509
NM_182961.4(SYNE1):c.2181C>G (p.Ala727=) rs1593209190
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=) rs749164483
NM_182961.4(SYNE1):c.21972G>A (p.Ser7324=)
NM_182961.4(SYNE1):c.21981C>G (p.Leu7327=) rs148868250
NM_182961.4(SYNE1):c.21981C>T (p.Leu7327=) rs148868250
NM_182961.4(SYNE1):c.21984T>A (p.Ser7328=) rs779374633
NM_182961.4(SYNE1):c.22023C>T (p.Cys7341=)
NM_182961.4(SYNE1):c.22044+14A>G
NM_182961.4(SYNE1):c.22044+8G>T
NM_182961.4(SYNE1):c.22045-11T>C
NM_182961.4(SYNE1):c.22131G>A (p.Gly7377=) rs1419205712
NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)
NM_182961.4(SYNE1):c.22191+20A>T
NM_182961.4(SYNE1):c.22191+7G>T
NM_182961.4(SYNE1):c.22194A>T (p.Gly7398=)
NM_182961.4(SYNE1):c.22215C>T (p.Ser7405=) rs560939744
NM_182961.4(SYNE1):c.22227T>C (p.Asp7409=)
NM_182961.4(SYNE1):c.2230C>T (p.Leu744=)
NM_182961.4(SYNE1):c.22346+12A>C
NM_182961.4(SYNE1):c.22347-13T>C
NM_182961.4(SYNE1):c.22347-20C>T
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)
NM_182961.4(SYNE1):c.22476A>G (p.Glu7492=)
NM_182961.4(SYNE1):c.22485A>G (p.Arg7495=)
NM_182961.4(SYNE1):c.22495-10dup rs767966157
NM_182961.4(SYNE1):c.22495-18_22495-16del rs1438172102
NM_182961.4(SYNE1):c.225+16T>C
NM_182961.4(SYNE1):c.225+16T>G
NM_182961.4(SYNE1):c.2250+14G>T
NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)
NM_182961.4(SYNE1):c.2251-15C>T rs758553708
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
NM_182961.4(SYNE1):c.22536C>T (p.His7512=)
NM_182961.4(SYNE1):c.22590-5A>G
NM_182961.4(SYNE1):c.226-12C>T
NM_182961.4(SYNE1):c.22749C>G (p.Ser7583=)
NM_182961.4(SYNE1):c.22764T>C (p.Ser7588=) rs2153408930
NM_182961.4(SYNE1):c.22806C>T (p.Thr7602=)
NM_182961.4(SYNE1):c.22824+13_22824+15del
NM_182961.4(SYNE1):c.22824+9C>T
NM_182961.4(SYNE1):c.22836A>G (p.Lys7612=)
NM_182961.4(SYNE1):c.22839G>A (p.Val7613=) rs1048202250
NM_182961.4(SYNE1):c.22842T>C (p.Phe7614=) rs2076502631
NM_182961.4(SYNE1):c.22863C>T (p.Tyr7621=)
NM_182961.4(SYNE1):c.22872T>C (p.Thr7624=)
NM_182961.4(SYNE1):c.22878G>A (p.Glu7626=)
NM_182961.4(SYNE1):c.23007C>T (p.Ala7669=)
NM_182961.4(SYNE1):c.23020-7A>G
NM_182961.4(SYNE1):c.23076C>T (p.Phe7692=)
NM_182961.4(SYNE1):c.23091G>A (p.Ser7697=)
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=) rs899533876
NM_182961.4(SYNE1):c.23145+10T>C
NM_182961.4(SYNE1):c.23146-10T>C rs2153229720
NM_182961.4(SYNE1):c.23146-7T>C
NM_182961.4(SYNE1):c.23146-7del rs770820426
NM_182961.4(SYNE1):c.23146-9T>C
NM_182961.4(SYNE1):c.23211C>T (p.Thr7737=)
NM_182961.4(SYNE1):c.23214C>A (p.Leu7738=) rs543882781
NM_182961.4(SYNE1):c.23301+13C>A
NM_182961.4(SYNE1):c.23301+13C>T
NM_182961.4(SYNE1):c.23301+20T>A rs2153229361
NM_182961.4(SYNE1):c.23302-18C>T rs2153180743
NM_182961.4(SYNE1):c.23302-4T>C
NM_182961.4(SYNE1):c.23302-5T>C
NM_182961.4(SYNE1):c.23367C>T (p.Asn7789=)
NM_182961.4(SYNE1):c.23460+10G>T rs376484866
NM_182961.4(SYNE1):c.23460+11C>G
NM_182961.4(SYNE1):c.23461-11T>G
NM_182961.4(SYNE1):c.23550C>T (p.Ser7850=)
NM_182961.4(SYNE1):c.23577G>A (p.Leu7859=) rs2153132926
NM_182961.4(SYNE1):c.23628-16C>T
NM_182961.4(SYNE1):c.23628-17C>G
NM_182961.4(SYNE1):c.23640G>A (p.Leu7880=)
NM_182961.4(SYNE1):c.23650C>T (p.Leu7884=) rs1259207970
NM_182961.4(SYNE1):c.23658C>T (p.Ala7886=)
NM_182961.4(SYNE1):c.23727C>G (p.Ala7909=) rs200146485
NM_182961.4(SYNE1):c.23790+11A>G rs1462193161
NM_182961.4(SYNE1):c.23790+9T>C rs2153024919
NM_182961.4(SYNE1):c.23791-12G>A rs754785678
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23841C>G (p.Leu7947=) rs760917529
NM_182961.4(SYNE1):c.23856C>G (p.Val7952=) rs772056716
NM_182961.4(SYNE1):c.2385G>A (p.Gln795=)
NM_182961.4(SYNE1):c.23868C>T (p.Asp7956=)
NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)
NM_182961.4(SYNE1):c.23892C>T (p.Ala7964=)
NM_182961.4(SYNE1):c.2391C>A (p.Thr797=) rs201500601
NM_182961.4(SYNE1):c.23934G>C (p.Arg7978=)
NM_182961.4(SYNE1):c.23978+16G>T
NM_182961.4(SYNE1):c.23979-7G>A rs376918337
NM_182961.4(SYNE1):c.24000G>A (p.Leu8000=)
NM_182961.4(SYNE1):c.24078C>T (p.Ser8026=) rs2061111726
NM_182961.4(SYNE1):c.2409C>T (p.Tyr803=)
NM_182961.4(SYNE1):c.24105C>T (p.Ala8035=) rs2061106684
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=) rs2061105872
NM_182961.4(SYNE1):c.24130-12C>G
NM_182961.4(SYNE1):c.24157C>T (p.Leu8053=) rs2152920109
NM_182961.4(SYNE1):c.24174G>A (p.Leu8058=) rs928170278
NM_182961.4(SYNE1):c.24183G>A (p.Lys8061=) rs2152919904
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24249C>T (p.His8083=)
NM_182961.4(SYNE1):c.24274C>T (p.Leu8092=) rs2152919136
NM_182961.4(SYNE1):c.24303C>T (p.Arg8101=)
NM_182961.4(SYNE1):c.24313-12C>T
NM_182961.4(SYNE1):c.24366C>G (p.Val8122=) rs764796963
NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=) rs754573881
NM_182961.4(SYNE1):c.24393C>T (p.Leu8131=)
NM_182961.4(SYNE1):c.243C>T (p.Arg81=)
NM_182961.4(SYNE1):c.24405A>G (p.Glu8135=) rs2152915378
NM_182961.4(SYNE1):c.24441G>A (p.Lys8147=) rs2060427405
NM_182961.4(SYNE1):c.24444A>G (p.Gln8148=) rs2152914979
NM_182961.4(SYNE1):c.24450+15T>C
NM_182961.4(SYNE1):c.24451-20A>T
NM_182961.4(SYNE1):c.24495G>A (p.Gln8165=) rs760658485
NM_182961.4(SYNE1):c.2454G>A (p.Glu818=) rs2098714051
NM_182961.4(SYNE1):c.24597C>T (p.Val8199=)
NM_182961.4(SYNE1):c.24643-14G>A
NM_182961.4(SYNE1):c.24643-20del
NM_182961.4(SYNE1):c.24643-7C>T
NM_182961.4(SYNE1):c.24681G>A (p.Leu8227=)
NM_182961.4(SYNE1):c.24687G>A (p.Leu8229=) rs1418252063
NM_182961.4(SYNE1):c.24708G>A (p.Ser8236=)
NM_182961.4(SYNE1):c.24723C>T (p.His8241=) rs141586001
NM_182961.4(SYNE1):c.24777C>G (p.Leu8259=)
NM_182961.4(SYNE1):c.24780G>T (p.Ser8260=) rs766320378
NM_182961.4(SYNE1):c.24810A>G (p.Ser8270=)
NM_182961.4(SYNE1):c.24843C>A (p.Ile8281=)
NM_182961.4(SYNE1):c.24927A>G (p.Glu8309=)
NM_182961.4(SYNE1):c.24933G>A (p.Gln8311=)
NM_182961.4(SYNE1):c.24976+8A>G
NM_182961.4(SYNE1):c.24976+9G>A rs749217089
NM_182961.4(SYNE1):c.24977-15T>C
NM_182961.4(SYNE1):c.24977-1706C>T
NM_182961.4(SYNE1):c.24977-1711_24977-1709del
NM_182961.4(SYNE1):c.24977-1803G>C
NM_182961.4(SYNE1):c.24977-4G>A
NM_182961.4(SYNE1):c.24978G>T (p.Gly8326=)
NM_182961.4(SYNE1):c.24987T>C (p.Ser8329=) rs1562984259
NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)
NM_182961.4(SYNE1):c.25119+18C>A
NM_182961.4(SYNE1):c.25120-11T>C
NM_182961.4(SYNE1):c.25120-20G>A
NM_182961.4(SYNE1):c.25120-9T>C
NM_182961.4(SYNE1):c.25129C>T (p.Leu8377=)
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=) rs576598951
NM_182961.4(SYNE1):c.25140C>T (p.Cys8380=) rs1585993590
NM_182961.4(SYNE1):c.25242G>A (p.Thr8414=)
NM_182961.4(SYNE1):c.25246+7G>A rs1585989458
NM_182961.4(SYNE1):c.25246+8C>G rs760126474
NM_182961.4(SYNE1):c.25247-16_25247-15dup rs2152800859
NM_182961.4(SYNE1):c.25347G>A (p.Leu8449=) rs1292954995
NM_182961.4(SYNE1):c.25377G>C (p.Thr8459=) rs755748581
NM_182961.4(SYNE1):c.25383G>A (p.Glu8461=) rs2152799773
NM_182961.4(SYNE1):c.25387T>C (p.Leu8463=)
NM_182961.4(SYNE1):c.25434C>T (p.Ile8478=)
NM_182961.4(SYNE1):c.25458+13T>C
NM_182961.4(SYNE1):c.25459-8C>A
NM_182961.4(SYNE1):c.25464C>G (p.Leu8488=) rs2152753360
NM_182961.4(SYNE1):c.25509T>C (p.Asn8503=)
NM_182961.4(SYNE1):c.25542C>T (p.Ser8514=)
NM_182961.4(SYNE1):c.25659+16G>C
NM_182961.4(SYNE1):c.25659+18C>G
NM_182961.4(SYNE1):c.25660-11_25660-10del rs1585772300
NM_182961.4(SYNE1):c.25660-4G>A
NM_182961.4(SYNE1):c.25660-8T>C rs371504964
NM_182961.4(SYNE1):c.2569-14T>G rs2154258222
NM_182961.4(SYNE1):c.2569-19G>C
NM_182961.4(SYNE1):c.25704C>T (p.Asn8568=) rs559811773
NM_182961.4(SYNE1):c.2572C>T (p.Leu858=)
NM_182961.4(SYNE1):c.25731C>G (p.Val8577=) rs2152737515
NM_182961.4(SYNE1):c.25746C>T (p.Asn8582=) rs774875575
NM_182961.4(SYNE1):c.25758G>A (p.Glu8586=)
NM_182961.4(SYNE1):c.25788+18dup rs1187750937
NM_182961.4(SYNE1):c.25789-10G>A rs2056337983
NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)
NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)
NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)
NM_182961.4(SYNE1):c.2598G>A (p.Lys866=) rs1288453744
NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=) rs2152718592
NM_182961.4(SYNE1):c.25C>A (p.Arg9=)
NM_182961.4(SYNE1):c.26001+11A>T
NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC rs2152718365
NM_182961.4(SYNE1):c.26002-17A>G
NM_182961.4(SYNE1):c.26002-7C>T
NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)
NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=) rs1657226622
NM_182961.4(SYNE1):c.2604C>A (p.Thr868=)
NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)
NM_182961.4(SYNE1):c.26094+17C>T
NM_182961.4(SYNE1):c.26094+18G>A
NM_182961.4(SYNE1):c.26095-15G>A
NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=) rs1554372048
NM_182961.4(SYNE1):c.26148T>C (p.His8716=)
NM_182961.4(SYNE1):c.26153+18T>A rs1057523744
NM_182961.4(SYNE1):c.26153+8C>T
NM_182961.4(SYNE1):c.26154-10C>A rs749838365
NM_182961.4(SYNE1):c.26154-10C>T rs749838365
NM_182961.4(SYNE1):c.26154-16T>A
NM_182961.4(SYNE1):c.26154-9T>C
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=) rs2152525767
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=) rs2152524493
NM_182961.4(SYNE1):c.2688G>A (p.Arg896=) rs766583731
NM_182961.4(SYNE1):c.2727+14C>T
NM_182961.4(SYNE1):c.2772C>T (p.Thr924=)
NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)
NM_182961.4(SYNE1):c.2859G>A (p.Lys953=) rs2098689434
NM_182961.4(SYNE1):c.285A>G (p.Ala95=) rs2154348348
NM_182961.4(SYNE1):c.2871G>A (p.Glu957=)
NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)
NM_182961.4(SYNE1):c.2886A>G (p.Arg962=)
NM_182961.4(SYNE1):c.288C>G (p.Leu96=)
NM_182961.4(SYNE1):c.2893-12C>G
NM_182961.4(SYNE1):c.2893-15C>T
NM_182961.4(SYNE1):c.2893-6T>C rs886042945
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
NM_182961.4(SYNE1):c.2958C>T (p.Thr986=)
NM_182961.4(SYNE1):c.297C>T (p.Leu99=) rs1355556442
NM_182961.4(SYNE1):c.2988G>C (p.Gly996=)
NM_182961.4(SYNE1):c.2991G>C (p.Leu997=)
NM_182961.4(SYNE1):c.3004C>A (p.Arg1002=) rs1264723962
NM_182961.4(SYNE1):c.3009G>A (p.Lys1003=)
NM_182961.4(SYNE1):c.3027+18G>A
NM_182961.4(SYNE1):c.310-18T>G rs1353458809
NM_182961.4(SYNE1):c.310-495A>G
NM_182961.4(SYNE1):c.310-498_310-497del
NM_182961.4(SYNE1):c.310-506C>T
NM_182961.4(SYNE1):c.310-8T>C
NM_182961.4(SYNE1):c.3186+18C>T
NM_182961.4(SYNE1):c.3186+18del rs2154250649
NM_182961.4(SYNE1):c.3186+20A>G rs2154250647
NM_182961.4(SYNE1):c.3186+9C>A
NM_182961.4(SYNE1):c.3243C>T (p.Ile1081=)
NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)
NM_182961.4(SYNE1):c.3324C>A (p.Leu1108=) rs1392215550
NM_182961.4(SYNE1):c.3395+20C>G
NM_182961.4(SYNE1):c.3395+7T>C
NM_182961.4(SYNE1):c.339T>C (p.Asp113=)
NM_182961.4(SYNE1):c.3504+13T>C
NM_182961.4(SYNE1):c.3504+9A>G
NM_182961.4(SYNE1):c.3660G>A (p.Leu1220=)
NM_182961.4(SYNE1):c.3669+13C>T
NM_182961.4(SYNE1):c.3669+20T>G
NM_182961.4(SYNE1):c.3670-14T>C rs780827995
NM_182961.4(SYNE1):c.3670-17T>C
NM_182961.4(SYNE1):c.3810A>G (p.Glu1270=) rs2154239316
NM_182961.4(SYNE1):c.3837+17C>A
NM_182961.4(SYNE1):c.384C>T (p.Thr128=) rs773315965
NM_182961.4(SYNE1):c.3852G>A (p.Arg1284=)
NM_182961.4(SYNE1):c.3873T>C (p.Asp1291=) rs778275142
NM_182961.4(SYNE1):c.3912G>C (p.Gly1304=)
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.393A>G (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.4008+18G>A rs2154232610
NM_182961.4(SYNE1):c.4008+20G>A
NM_182961.4(SYNE1):c.4009-19T>C
NM_182961.4(SYNE1):c.402+16del rs1459487255
NM_182961.4(SYNE1):c.402+18C>A
NM_182961.4(SYNE1):c.403-16G>A
NM_182961.4(SYNE1):c.408A>G (p.Glu136=)
NM_182961.4(SYNE1):c.4098C>T (p.Phe1366=)
NM_182961.4(SYNE1):c.4149+11del
NM_182961.4(SYNE1):c.4149+14C>T
NM_182961.4(SYNE1):c.4149+9T>C rs1554706986
NM_182961.4(SYNE1):c.4150-20G>A
NM_182961.4(SYNE1):c.4150-20G>T rs372652425
NM_182961.4(SYNE1):c.4162C>A (p.Arg1388=) rs34028822
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=) rs368727420
NM_182961.4(SYNE1):c.4218A>T (p.Ile1406=)
NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=) rs200370595
NM_182961.4(SYNE1):c.4239G>A (p.Lys1413=) rs895948901
NM_182961.4(SYNE1):c.4257G>A (p.Gln1419=)
NM_182961.4(SYNE1):c.4275A>G (p.Glu1425=) rs2154214696
NM_182961.4(SYNE1):c.42C>T (p.Ile14=)
NM_182961.4(SYNE1):c.4305A>G (p.Glu1435=) rs2098470446
NM_182961.4(SYNE1):c.4310+7G>C rs1564002853
NM_182961.4(SYNE1):c.4413C>T (p.Ala1471=)
NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)
NM_182961.4(SYNE1):c.4461+12A>C
NM_182961.4(SYNE1):c.4461+18_4461+20del
NM_182961.4(SYNE1):c.4462-10T>C
NM_182961.4(SYNE1):c.4521C>A (p.Ala1507=)
NM_182961.4(SYNE1):c.453C>T (p.Ser151=) rs749920635
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4689+12T>A
NM_182961.4(SYNE1):c.4689+13C>G
NM_182961.4(SYNE1):c.4689+15A>G
NM_182961.4(SYNE1):c.4689+16C>G
NM_182961.4(SYNE1):c.4690-14C>T
NM_182961.4(SYNE1):c.4690-15G>A rs2154201104
NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)
NM_182961.4(SYNE1):c.4788+19A>G rs764033698
NM_182961.4(SYNE1):c.4788+20T>C
NM_182961.4(SYNE1):c.4789-10C>T
NM_182961.4(SYNE1):c.4789-13G>C
NM_182961.4(SYNE1):c.4789-5_4789-3del rs1592495200
NM_182961.4(SYNE1):c.4789-6T>C
NM_182961.4(SYNE1):c.4789-9T>G
NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)
NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)
NM_182961.4(SYNE1):c.4894C>T (p.Leu1632=)
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=) rs886044228
NM_182961.4(SYNE1):c.4923G>A (p.Arg1641=)
NM_182961.4(SYNE1):c.4944G>A (p.Thr1648=)
NM_182961.4(SYNE1):c.4959G>C (p.Leu1653=)
NM_182961.4(SYNE1):c.4976+10A>G
NM_182961.4(SYNE1):c.4977-18G>T
NM_182961.4(SYNE1):c.5019G>A (p.Arg1673=)
NM_182961.4(SYNE1):c.5058T>C (p.Ser1686=)
NM_182961.4(SYNE1):c.5070C>A (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5100+19G>A rs901073481
NM_182961.4(SYNE1):c.5101-10T>C
NM_182961.4(SYNE1):c.5101-8T>C
NM_182961.4(SYNE1):c.5412T>A (p.Thr1804=) rs2154186762
NM_182961.4(SYNE1):c.5421+8G>A rs750258642
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.5422-7C>G
NM_182961.4(SYNE1):c.5424C>T (p.Asp1808=)
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=) rs1481434570
NM_182961.4(SYNE1):c.5655C>G (p.Arg1885=)
NM_182961.4(SYNE1):c.5706T>C (p.Ser1902=)
NM_182961.4(SYNE1):c.5754A>G (p.Ala1918=) rs1350643988
NM_182961.4(SYNE1):c.5808T>C (p.His1936=)
NM_182961.4(SYNE1):c.581+13A>G
NM_182961.4(SYNE1):c.581+7A>T
NM_182961.4(SYNE1):c.5811G>A (p.Leu1937=)
NM_182961.4(SYNE1):c.582-7C>T rs1328050233
NM_182961.4(SYNE1):c.5874G>A (p.Glu1958=) rs2098158523
NM_182961.4(SYNE1):c.5883G>A (p.Arg1961=) rs997152435
NM_182961.4(SYNE1):c.5910G>A (p.Gln1970=)
NM_182961.4(SYNE1):c.5935T>C (p.Leu1979=) rs2098157630
NM_182961.4(SYNE1):c.5943A>G (p.Lys1981=) rs1195163643
NM_182961.4(SYNE1):c.5946A>G (p.Ala1982=)
NM_182961.4(SYNE1):c.6051-13T>C
NM_182961.4(SYNE1):c.6051-18T>C
NM_182961.4(SYNE1):c.6105A>G (p.Leu2035=)
NM_182961.4(SYNE1):c.6150A>C (p.Val2050=)
NM_182961.4(SYNE1):c.615G>A (p.Lys205=) rs1594201432
NM_182961.4(SYNE1):c.6162T>A (p.Pro2054=) rs2154176982
NM_182961.4(SYNE1):c.6225T>C (p.His2075=)
NM_182961.4(SYNE1):c.6234G>A (p.Gln2078=)
NM_182961.4(SYNE1):c.624A>G (p.Arg208=) rs2154331618
NM_182961.4(SYNE1):c.6288A>T (p.Ser2096=) rs2154170171
NM_182961.4(SYNE1):c.6294A>G (p.Val2098=)
NM_182961.4(SYNE1):c.6357G>A (p.Glu2119=)
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
NM_182961.4(SYNE1):c.6480C>T (p.His2160=)
NM_182961.4(SYNE1):c.6540+14del
NM_182961.4(SYNE1):c.6540+18G>A
NM_182961.4(SYNE1):c.6555T>C (p.Leu2185=)
NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)
NM_182961.4(SYNE1):c.6606A>G (p.Val2202=) rs2154165470
NM_182961.4(SYNE1):c.6642C>T (p.Asn2214=)
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=) rs1193871694
NM_182961.4(SYNE1):c.669A>G (p.Glu223=) rs1294047431
NM_182961.4(SYNE1):c.67+8G>A
NM_182961.4(SYNE1):c.6723+20A>G
NM_182961.4(SYNE1):c.672G>A (p.Leu224=) rs2099051768
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=) rs1563754171
NM_182961.4(SYNE1):c.6795T>C (p.Thr2265=) rs2154157073
NM_182961.4(SYNE1):c.6813G>C (p.Pro2271=)
NM_182961.4(SYNE1):c.6825+19C>G
NM_182961.4(SYNE1):c.6826-7T>C
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=) rs1554629711
NM_182961.4(SYNE1):c.6897G>A (p.Leu2299=)
NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=) rs898678358
NM_182961.4(SYNE1):c.696C>A (p.Gly232=)
NM_182961.4(SYNE1):c.6975A>G (p.Glu2325=)
NM_182961.4(SYNE1):c.6978G>A (p.Ser2326=)
NM_182961.4(SYNE1):c.7017G>A (p.Leu2339=)
NM_182961.4(SYNE1):c.7029+18A>G
NM_182961.4(SYNE1):c.7030-14C>G
NM_182961.4(SYNE1):c.7032T>C (p.Asp2344=)
NM_182961.4(SYNE1):c.7041A>G (p.Lys2347=) rs1035633192
NM_182961.4(SYNE1):c.7104C>G (p.Arg2368=)
NM_182961.4(SYNE1):c.7110C>T (p.Tyr2370=)
NM_182961.4(SYNE1):c.7131C>T (p.Ser2377=)
NM_182961.4(SYNE1):c.7237+14G>A
NM_182961.4(SYNE1):c.7237+17del
NM_182961.4(SYNE1):c.7238-9T>C rs1591882273
NM_182961.4(SYNE1):c.723T>C (p.Asp241=)
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=) rs886043162
NM_182961.4(SYNE1):c.7296A>G (p.Ser2432=)
NM_182961.4(SYNE1):c.7350+15A>T
NM_182961.4(SYNE1):c.735C>T (p.Ile245=)
NM_182961.4(SYNE1):c.7365A>G (p.Ser2455=) rs761520305
NM_182961.4(SYNE1):c.7488T>C (p.Phe2496=)
NM_182961.4(SYNE1):c.7494A>G (p.Ala2498=)
NM_182961.4(SYNE1):c.7556+15C>T
NM_182961.4(SYNE1):c.7557-18G>A
NM_182961.4(SYNE1):c.7569G>A (p.Gln2523=)
NM_182961.4(SYNE1):c.756C>A (p.Ile252=) rs1241383804
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=) rs201679896
NM_182961.4(SYNE1):c.7707T>C (p.Ala2569=)
NM_182961.4(SYNE1):c.7713-10T>C rs2154134126
NM_182961.4(SYNE1):c.7713-11C>T rs201131946
NM_182961.4(SYNE1):c.7713-12_7713-11del
NM_182961.4(SYNE1):c.7713-12_7713-11insTTTTTTTT
NM_182961.4(SYNE1):c.7713-13_7713-12insTTTTTTC
NM_182961.4(SYNE1):c.7713-17_7713-13dup
NM_182961.4(SYNE1):c.7713-17_7713-16insTTTTTTC
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTC rs1554611398
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC rs746802599
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTTC rs2097634535
NM_182961.4(SYNE1):c.7713-19_7713-18insTTTTTTC rs781073860
NM_182961.4(SYNE1):c.7713-23_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-4T>A rs571742202
NM_182961.4(SYNE1):c.7713-5T>C rs893217390
NM_182961.4(SYNE1):c.7719T>G (p.Ser2573=)
NM_182961.4(SYNE1):c.778+12A>G
NM_182961.4(SYNE1):c.778+13T>G rs775117869
NM_182961.4(SYNE1):c.778+17T>C rs2154331395
NM_182961.4(SYNE1):c.779-11T>C
NM_182961.4(SYNE1):c.779-17C>A
NM_182961.4(SYNE1):c.7866C>G (p.Ala2622=)
NM_182961.4(SYNE1):c.7965G>A (p.Gly2655=)
NM_182961.4(SYNE1):c.7971A>G (p.Lys2657=)
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=) rs1032522783
NM_182961.4(SYNE1):c.7980G>A (p.Leu2660=)
NM_182961.4(SYNE1):c.8004+16G>A
NM_182961.4(SYNE1):c.8004+8C>T
NM_182961.4(SYNE1):c.8025T>G (p.Gly2675=)
NM_182961.4(SYNE1):c.8172T>C (p.Ala2724=)
NM_182961.4(SYNE1):c.8177+12A>G
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=) rs561155086
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=) rs749172868
NM_182961.4(SYNE1):c.8328C>G (p.Leu2776=)
NM_182961.4(SYNE1):c.8394G>A (p.Arg2798=) rs1212269934
NM_182961.4(SYNE1):c.8412A>G (p.Thr2804=) rs1352615188
NM_182961.4(SYNE1):c.8415G>A (p.Glu2805=) rs200537411
NM_182961.4(SYNE1):c.8488-15T>C rs754541640
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=) rs2154124074
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=) rs2154124018
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
NM_182961.4(SYNE1):c.8652+9A>T
NM_182961.4(SYNE1):c.8653-17G>A
NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)
NM_182961.4(SYNE1):c.870T>C (p.Thr290=)
NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)
NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=) rs1591551475
NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)
NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=) rs2154115463
NM_182961.4(SYNE1):c.888+9T>C
NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)
NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)
NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)
NM_182961.4(SYNE1):c.9147-15G>T
NM_182961.4(SYNE1):c.9177G>A (p.Gln3059=)
NM_182961.4(SYNE1):c.9183A>G (p.Lys3061=)
NM_182961.4(SYNE1):c.9243T>A (p.Val3081=)
NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)
NM_182961.4(SYNE1):c.9309T>C (p.Ser3103=)
NM_182961.4(SYNE1):c.9324+20A>T
NM_182961.4(SYNE1):c.9324+7G>T rs2097282528
NM_182961.4(SYNE1):c.9325-10T>C
NM_182961.4(SYNE1):c.9325-4A>G rs1444975317
NM_182961.4(SYNE1):c.9357C>T (p.His3119=)
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=) rs376622495
NM_182961.4(SYNE1):c.939+14A>T rs531123529
NM_182961.4(SYNE1):c.939+15A>C
NM_182961.4(SYNE1):c.9411A>G (p.Lys3137=) rs975537862
NM_182961.4(SYNE1):c.9417A>G (p.Lys3139=)
NM_182961.4(SYNE1):c.9450A>G (p.Ala3150=)
NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)
NM_182961.4(SYNE1):c.9483C>T (p.Leu3161=) rs778123025
NM_182961.4(SYNE1):c.9507+7A>G
NM_182961.4(SYNE1):c.9508-12A>G
NM_182961.4(SYNE1):c.9508-16A>G
NM_182961.4(SYNE1):c.9508-20C>T
NM_182961.4(SYNE1):c.9609C>T (p.Leu3203=) rs1591297339
NM_182961.4(SYNE1):c.9612T>C (p.Tyr3204=) rs1030698096
NM_182961.4(SYNE1):c.9645G>A (p.Lys3215=)
NM_182961.4(SYNE1):c.9651+15T>G
NM_182961.4(SYNE1):c.9652-15G>T
NM_182961.4(SYNE1):c.9652-18C>T
NM_182961.4(SYNE1):c.9652-8C>T
NM_182961.4(SYNE1):c.9697C>T (p.Leu3233=)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9744G>A (p.Lys3248=) rs2097133437
NM_182961.4(SYNE1):c.9765G>T (p.Ser3255=) rs759631028
NM_182961.4(SYNE1):c.9808-16T>C
NM_182961.4(SYNE1):c.9822A>G (p.Arg3274=)
NM_182961.4(SYNE1):c.9864G>A (p.Gly3288=) rs1591250414
NM_182961.4(SYNE1):c.9864G>C (p.Gly3288=)
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9903C>T (p.His3301=) rs767709050
NM_182961.4(SYNE1):c.9966G>A (p.Lys3322=)
NM_182961.4(SYNE1):c.9978A>G (p.Leu3326=) rs1286630366
NM_182961.4(SYNE1):c.9990A>G (p.Lys3330=)

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