ClinVar Miner

List of variants studied for Dyskeratosis congenita

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2784
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_018648.4(NOP10):c.55-15G>C rs422388 0.43627
NM_025099.6(CTC1):c.*2338T>C rs8078338 0.40460
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_025099.6(CTC1):c.*631T>G rs3027247 0.26879
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_025099.6(CTC1):c.*1807G>T rs3027251 0.06914
NM_001099274.3(TINF2):c.400-20_400-18dup rs58372573 0.06483
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_001283009.2(RTEL1):c.879T>C (p.Gly293=) rs6010616 0.05825
NM_001283009.2(RTEL1):c.371A>G (p.Asn124Ser) rs3848668 0.05764
NM_001283009.2(RTEL1):c.786G>A (p.Ser262=) rs6011020 0.05175
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_001283009.2(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614 0.03406
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_025099.6(CTC1):c.*1450G>A rs3027250 0.02223
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_017838.4(NHP2):c.160+16G>C rs41285577 0.01797
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_025099.6(CTC1):c.*2087A>G rs75503577 0.01557
NM_025099.6(CTC1):c.*43C>T rs3027245 0.01554
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311 0.00688
NM_025099.6(CTC1):c.*3231A>G rs139845972 0.00670
NM_025099.6(CTC1):c.*825C>T rs3027248 0.00659
NM_025099.6(CTC1):c.*2006T>C rs57270818 0.00633
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532 0.00616
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_025099.6(CTC1):c.*2848A>C rs73975813 0.00571
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) rs140360074 0.00540
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) rs146994329 0.00528
NM_025099.6(CTC1):c.*1668G>A rs114198389 0.00519
NM_025099.6(CTC1):c.*1041A>G rs148405704 0.00430
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_001283009.2(RTEL1):c.1953C>T (p.Arg651=) rs79210260 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_025099.6(CTC1):c.*1369A>G rs150798403 0.00246
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_025099.6(CTC1):c.*1176C>T rs149513613 0.00203
NM_001099274.3(TINF2):c.1129+15T>A rs200599508 0.00197
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_022762.5(RMND5B):c.*1820A>G rs201653595 0.00188
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758 0.00166
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00162
NM_025099.6(CTC1):c.*558G>A rs112446369 0.00150
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_001099274.3(TINF2):c.400-9C>T rs201087708 0.00128
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
NM_025099.6(CTC1):c.*1844G>A rs3027252 0.00127
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_017838.4(NHP2):c.270A>G (p.Val90=) rs148179279 0.00121
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018 0.00106
NM_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_025099.6(CTC1):c.*1205T>G rs183725401 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237 0.00096
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) rs149359927 0.00091
NM_001363.5(DKC1):c.771+13G>A rs201592812 0.00091
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=) rs368176460 0.00086
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_025099.6(CTC1):c.*3186G>A rs8072826 0.00081
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=) rs141618172 0.00074
NM_025099.6(CTC1):c.*2115C>G rs187344168 0.00072
NM_025099.6(CTC1):c.*234C>T rs570408909 0.00070
NM_025099.6(CTC1):c.*1156G>A rs538807522 0.00069
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_025099.6(CTC1):c.*1410A>G rs570429563 0.00064
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506 0.00060
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001363.5(DKC1):c.172-12G>A rs376783942 0.00055
NM_198253.3(TERT):c.1953C>T (p.Ala651=) rs201088708 0.00054
NM_025099.6(CTC1):c.3221+16G>A rs372958727 0.00052
NM_198253.3(TERT):c.3351C>T (p.Ala1117=) rs192377676 0.00052
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_025099.6(CTC1):c.*1936A>G rs767476369 0.00051
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.*1930A>G rs780992571 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=) rs138399496 0.00046
NM_025099.6(CTC1):c.1140G>T (p.Gly380=) rs201392995 0.00046
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808 0.00045
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 0.00044
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_025099.6(CTC1):c.*1130G>C rs375962823 0.00040
NM_198253.3(TERT):c.1968G>A (p.Ser656=) rs368784316 0.00039
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.197+16G>A rs370799756 0.00036
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527 0.00035
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=) rs143740470 0.00035
NM_001283009.2(RTEL1):c.2851+8G>C rs376962635 0.00035
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180 0.00035
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_017838.4(NHP2):c.369C>T (p.Pro123=) rs375285426 0.00034
NM_025099.6(CTC1):c.*1853G>A rs540866407 0.00034
NM_025099.6(CTC1):c.*460C>T rs371544637 0.00034
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met) rs371036203 0.00034
NM_025099.6(CTC1):c.*797C>T rs142486253 0.00033
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=) rs188479221 0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 0.00032
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_025099.6(CTC1):c.*1540C>T rs755418655 0.00032
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg) rs371046424 0.00032
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405 0.00031
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr) rs201203345 0.00031
NM_001099274.3(TINF2):c.1059G>A (p.Lys353=) rs374320783 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_001283009.2(RTEL1):c.1037+10G>A rs368590236 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_017838.4(NHP2):c.160+18G>T rs202078932 0.00027
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr) rs374126761 0.00027
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00026
NM_025099.6(CTC1):c.*536T>G rs533538191 0.00025
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=) rs187238540 0.00024
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 0.00024
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_001283009.2(RTEL1):c.1595+9C>T rs370145267 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_025099.6(CTC1):c.*1486C>T rs574706247 0.00022
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_025099.6(CTC1):c.*1534G>A rs561385282 0.00021
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00020
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.3278A>G (p.Asp1093Gly) rs374338519 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=) rs142965557 0.00019
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala) rs199989447 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301 0.00019
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser) rs370564569 0.00019
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=) rs764719355 0.00018
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_025099.6(CTC1):c.-10C>T rs201782976 0.00017
NM_001143992.2(WRAP53):c.18T>A (p.Thr6=) rs376621917 0.00016
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln) rs369716125 0.00016
NM_025099.6(CTC1):c.*1046T>C rs550911189 0.00016
NM_025099.6(CTC1):c.*2530G>A rs780560618 0.00016
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616 0.00016
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001363.5(DKC1):c.1059G>A (p.Ala353=) rs375274293 0.00015
NM_001363.5(DKC1):c.1362A>G (p.Glu454=) rs782342369 0.00015
NM_025099.6(CTC1):c.*1663G>A rs552635622 0.00015
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717 0.00015
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) rs776727691 0.00014
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076 0.00014
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=) rs141229183 0.00014
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_025099.6(CTC1):c.*1042T>C rs974655494 0.00014
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp) rs370674203 0.00014
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=) rs201124470 0.00014
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388 0.00013
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001363.5(DKC1):c.399C>T (p.Ile133=) rs140714103 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001363.5(DKC1):c.978C>T (p.Gly326=) rs145325102 0.00013
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys) rs200150979 0.00013
NM_025099.6(CTC1):c.*1177C>T rs886053604 0.00013
NM_025099.6(CTC1):c.*64T>G rs886053609 0.00013
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe) rs779906449 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=) rs369953611 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_025099.6(CTC1):c.*1630G>A rs77202978 0.00012
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844 0.00011
NM_001099274.3(TINF2):c.492A>G (p.Thr164=) rs781353658 0.00011
NM_001143992.2(WRAP53):c.1514C>T (p.Thr505Met) rs376624508 0.00011
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met) rs145335410 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_017838.4(NHP2):c.72C>T (p.Tyr24=) rs202221169 0.00011
NM_025099.6(CTC1):c.*1125G>C rs779298230 0.00011
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=) rs761178911 0.00011
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_001283009.2(RTEL1):c.2413+4C>T rs761756257 0.00010
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp) rs373874416 0.00010
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_001283009.2(RTEL1):c.3103C>T (p.Pro1035Ser) rs754768798 0.00010
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001363.5(DKC1):c.600C>T (p.Tyr200=) rs781789313 0.00010
NM_025099.6(CTC1):c.*1201T>C rs886053603 0.00010
NM_025099.6(CTC1):c.*1475A>G rs745973862 0.00010
NM_025099.6(CTC1):c.*1861A>G rs868663416 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_198253.3(TERT):c.1656C>T (p.Tyr552=) rs143789839 0.00010
NM_198253.3(TERT):c.1983G>A (p.Leu661=) rs375454175 0.00010
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 0.00009
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=) rs141241780 0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.2(RTEL1):c.3137G>A (p.Gly1046Glu) rs772914279 0.00009
NM_001283009.2(RTEL1):c.3585G>A (p.Ala1195=) rs368887784 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_025099.6(CTC1):c.*2106G>T rs192934640 0.00009
NM_025099.6(CTC1):c.*2353A>G rs559152657 0.00009
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly) rs200054513 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.2019C>T (p.Pro673=) rs762941707 0.00009
NM_198253.3(TERT):c.3363G>A (p.Pro1121=) rs750020682 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00008
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) rs540798467 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=) rs757231662 0.00008
NM_001283009.2(RTEL1):c.1602C>T (p.Ser534=) rs745339095 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val) rs202157063 0.00008
NM_001283009.2(RTEL1):c.959-9G>A rs373436285 0.00008
NM_001363.5(DKC1):c.85-4G>A rs782787521 0.00008
NM_025099.6(CTC1):c.*474G>A rs139392724 0.00008
NM_025099.6(CTC1):c.1379G>A (p.Arg460His) rs200619397 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp) rs200208356 0.00008
NM_025099.6(CTC1):c.3515-17C>T rs376402639 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys) rs367666200 0.00008
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala) rs778922727 0.00008
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala) rs377324497 0.00008
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro) rs537151019 0.00007
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=) rs370202708 0.00007
NM_001283009.2(RTEL1):c.3499+6G>A rs201617354 0.00007
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=) rs564198378 0.00007
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=) rs375849124 0.00007
NM_001283009.2(RTEL1):c.958+3A>G rs200787633 0.00007
NM_001363.5(DKC1):c.1155+20G>A rs782743841 0.00007
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala) rs782622660 0.00007
NM_001363.5(DKC1):c.582C>G (p.Leu194=) rs782546233 0.00007
NM_025099.6(CTC1):c.*1711A>G rs563822041 0.00007
NM_025099.6(CTC1):c.*2842G>A rs1035127593 0.00007
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2476-7C>T rs189539795 0.00007
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631 0.00006
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001143992.2(WRAP53):c.1329C>T (p.Asp443=) rs371846554 0.00006
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00006
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=) rs146662746 0.00006
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=) rs575430966 0.00006
NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=) rs370637234 0.00006
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=) rs528125869 0.00006
NM_001283009.2(RTEL1):c.3357T>C (p.Phe1119=) rs371805350 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_001363.5(DKC1):c.1036+8G>A rs782446632 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) rs372511229 0.00006
NM_017838.4(NHP2):c.230+17C>T rs766892858 0.00006
NM_017838.4(NHP2):c.289A>G (p.Met97Val) rs372840247 0.00006
NM_017838.4(NHP2):c.290T>C (p.Met97Thr) rs147530082 0.00006
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr) rs780696831 0.00006
NM_025099.6(CTC1):c.*1166C>T rs753309673 0.00006
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr) rs369078832 0.00006
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro) rs371812914 0.00006
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574 0.00006
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser) rs377390001 0.00006
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu) rs778742090 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met) rs543241073 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_025099.6(CTC1):c.884G>A (p.Arg295His) rs763386935 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175 0.00005
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00005
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) rs767648367 0.00005
NM_001283009.2(RTEL1):c.1399C>G (p.Leu467Val) rs369714122 0.00005
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=) rs113304555 0.00005
NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=) rs553627522 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.3344-4G>A rs367703929 0.00005
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys) rs771457769 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001363.5(DKC1):c.1074C>T (p.Cys358=) rs781915787 0.00005
NM_001363.5(DKC1):c.1155+8G>A rs781880461 0.00005
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800 0.00005
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263 0.00005
NM_001363.5(DKC1):c.267A>C (p.Thr89=) rs782604353 0.00005
NM_001363.5(DKC1):c.847C>A (p.Arg283=) rs782084631 0.00005
NM_017838.4(NHP2):c.105G>A (p.Ala35=) rs373176167 0.00005
NM_017838.4(NHP2):c.417C>T (p.Tyr139=) rs567317314 0.00005
NM_025099.6(CTC1):c.*2146G>A rs773269538 0.00005
NM_025099.6(CTC1):c.*2296T>A rs777042904 0.00005
NM_025099.6(CTC1):c.*3079C>T rs890664978 0.00005
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp) rs374781255 0.00005
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597 0.00005
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln) rs375999182 0.00005
NM_025099.6(CTC1):c.17C>T (p.Ala6Val) rs371541763 0.00005
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg) rs763326051 0.00005
NM_025099.6(CTC1):c.198-3C>T rs761189766 0.00005
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035 0.00005
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr) rs748072446 0.00005
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=) rs745512137 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.562G>A (p.Val188Met) rs769331687 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln) rs761903168 0.00005
NM_025099.6(CTC1):c.873C>G (p.Ile291Met) rs199900567 0.00005
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg) rs746829533 0.00005
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NM_001099274.3(TINF2):c.30A>G (p.Ala10=) rs779819186 0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val) rs562843857 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.690C>G (p.Pro230=) rs764260132 0.00004
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001143992.2(WRAP53):c.1325C>T (p.Thr442Met) rs188668951 0.00004
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.1012G>A (p.Asp338Asn) rs116495318 0.00004
NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val) rs200555432 0.00004
NM_001283009.2(RTEL1):c.1239A>G (p.Ala413=) rs745951995 0.00004
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=) rs114124243 0.00004
NM_001283009.2(RTEL1):c.1594C>T (p.Arg532Trp) rs779050514 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.1800+4G>A rs370973086 0.00004
NM_001283009.2(RTEL1):c.1848C>T (p.Gly616=) rs141436916 0.00004
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=) rs774642602 0.00004
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr) rs149063501 0.00004
NM_001283009.2(RTEL1):c.220G>A (p.Glu74Lys) rs140042227 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2284C>T (p.Arg762Trp) rs750251447 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.246G>A (p.Pro82=) rs775247678 0.00004
NM_001283009.2(RTEL1):c.2509G>A (p.Ala837Thr) rs753435220 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=) rs373347391 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His) rs765060195 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu) rs749331637 0.00004
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=) rs200086502 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.638G>A (p.Arg213Gln) rs770742969 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.902C>T (p.Ala301Val) rs373849709 0.00004
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=) rs377191081 0.00004
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn) rs753838163 0.00004
NM_001363.5(DKC1):c.1339-5C>T rs781901933 0.00004
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.263+17G>A rs371006539 0.00004
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227 0.00004
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp) rs782010351 0.00004
NM_001363.5(DKC1):c.84C>T (p.Ala28=) rs142474971 0.00004
NM_017838.4(NHP2):c.335C>T (p.Thr112Met) rs768262654 0.00004
NM_017838.4(NHP2):c.441G>T (p.Gln147His) rs757655789 0.00004
NM_025099.6(CTC1):c.*1495G>A rs886053600 0.00004
NM_025099.6(CTC1):c.*1964G>A rs1167690919 0.00004
NM_025099.6(CTC1):c.*2007A>G rs886053591 0.00004
NM_025099.6(CTC1):c.*218T>G rs886053607 0.00004
NM_025099.6(CTC1):c.*327C>T rs569217905 0.00004
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg) rs746477108 0.00004
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn) rs372396041 0.00004
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782 0.00004
NM_025099.6(CTC1):c.1293T>C (p.Leu431=) rs764709117 0.00004
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=) rs371189165 0.00004
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.1682G>A (p.Arg561His) rs373690929 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu) rs755218326 0.00004
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp) rs780151711 0.00004
NM_025099.6(CTC1):c.197+13G>A rs377444887 0.00004
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn) rs747911941 0.00004
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949 0.00004
NM_025099.6(CTC1):c.2061-6C>T rs370503002 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755 0.00004
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111 0.00004
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn) rs370102181 0.00004
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe) rs373660155 0.00004
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val) rs957741030 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.3514+18G>A rs770137845 0.00004
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr) rs751596403 0.00004
NM_025099.6(CTC1):c.630C>G (p.Ser210=) rs750601480 0.00004
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00004
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2469-9C>T rs764029536 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_001099274.3(TINF2):c.1221+1G>C rs374008344 0.00003
NM_001099274.3(TINF2):c.1221+3G>C rs762455414 0.00003
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083 0.00003
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=) rs755970077 0.00003
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792 0.00003
NM_001099274.3(TINF2):c.210C>T (p.Ile70=) rs749135301 0.00003
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr) rs762140055 0.00003
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) rs746625511 0.00003
NM_001099274.3(TINF2):c.504G>A (p.Gln168=) rs764829839 0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=) rs757222975 0.00003
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) rs372610524 0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=) rs776136324 0.00003
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp) rs748434559 0.00003
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=) rs201307924 0.00003
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00003
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln) rs753779060 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=) rs371353556 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln) rs761907604 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_001283009.2(RTEL1):c.600C>A (p.Ser200Arg) rs771785679 0.00003
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.785C>T (p.Ser262Leu) rs772044888 0.00003
NM_001363.5(DKC1):c.1305G>A (p.Pro435=) rs189466923 0.00003
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) rs782598355 0.00003
NM_001363.5(DKC1):c.1503G>A (p.Lys501=) rs782072048 0.00003
NM_001363.5(DKC1):c.172-13C>T rs782236324 0.00003
NM_001363.5(DKC1):c.357G>A (p.Gly119=) rs1161452912 0.00003
NM_001363.5(DKC1):c.487A>G (p.Ile163Val) rs782159247 0.00003
NM_001363.5(DKC1):c.85-5C>T rs782381308 0.00003
NM_001363.5(DKC1):c.93A>G (p.Gln31=) rs782094431 0.00003
NM_001363.5(DKC1):c.993G>A (p.Gln331=) rs1407582382 0.00003
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser) rs201390429 0.00003
NM_017838.4(NHP2):c.231-20_231-19del rs1491337170 0.00003
NM_017838.4(NHP2):c.336+12G>A rs202050768 0.00003
NM_017838.4(NHP2):c.388_395dup (p.His132fs) rs755460344 0.00003
NM_025099.6(CTC1):c.*1286A>G rs886053601 0.00003
NM_025099.6(CTC1):c.*1438C>G rs141383858 0.00003
NM_025099.6(CTC1):c.*1852G>A rs559541027 0.00003
NM_025099.6(CTC1):c.*445A>T rs977398110 0.00003
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039 0.00003
NM_025099.6(CTC1):c.1078-14C>T rs778409864 0.00003
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr) rs771759195 0.00003
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp) rs767962215 0.00003
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520 0.00003
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707 0.00003
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val) rs532962550 0.00003
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_025099.6(CTC1):c.1284C>T (p.Ala428=) rs751503167 0.00003
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=) rs758414171 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130 0.00003
NM_025099.6(CTC1):c.2049G>A (p.Lys683=) rs1224287906 0.00003
NM_025099.6(CTC1):c.2060+8C>T rs774720707 0.00003
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 0.00003
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057 0.00003
NM_025099.6(CTC1):c.2352C>T (p.Pro784=) rs372436060 0.00003
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138 0.00003
NM_025099.6(CTC1):c.2385+19G>A rs766195246 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180 0.00003
NM_025099.6(CTC1):c.24C>T (p.Val8=) rs749818659 0.00003
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830 0.00003
NM_025099.6(CTC1):c.2670-7C>T rs750034989 0.00003
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly) rs371308970 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881 0.00003
NM_025099.6(CTC1):c.2799C>A (p.Val933=) rs756487472 0.00003
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser) rs375371933 0.00003
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln) rs769617113 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.647+16A>G rs761287304 0.00003
NM_025099.6(CTC1):c.6G>A (p.Ala2=) rs777656768 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.3033-13G>A rs746630679 0.00003
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) rs763381198 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys) rs992428548 0.00002
NM_001099274.3(TINF2):c.1062-3C>T rs1176026210 0.00002
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_001099274.3(TINF2):c.1130-10C>T rs762697610 0.00002
NM_001099274.3(TINF2):c.1222-3C>A rs760553298 0.00002
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) rs1359891417 0.00002
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00002
NM_001099274.3(TINF2):c.399+12T>C rs1261166783 0.00002
NM_001099274.3(TINF2):c.411A>G (p.Gln137=) rs1180442127 0.00002
NM_001099274.3(TINF2):c.507+14A>G rs888526948 0.00002
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773 0.00002
NM_001099274.3(TINF2):c.879C>T (p.Leu293=) rs1475173024 0.00002
NM_001099274.3(TINF2):c.960A>C (p.Thr320=) rs1002974518 0.00002
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys) rs866955014 0.00002
NM_001283009.2(RTEL1):c.1267-6C>T rs779075624 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657 0.00002
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=) rs758544821 0.00002
NM_001283009.2(RTEL1):c.1723-13C>T rs751640004 0.00002
NM_001283009.2(RTEL1):c.1728C>T (p.Arg576=) rs754225573 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2530C>T (p.Arg844Trp) rs368297230 0.00002
NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln) rs758245234 0.00002
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val) rs376204071 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=) rs201356718 0.00002
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=) rs530713870 0.00002
NM_001283009.2(RTEL1):c.3438G>A (p.Pro1146=) rs770920450 0.00002
NM_001283009.2(RTEL1):c.350C>T (p.Ser117Leu) rs372278974 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr) rs779282812 0.00002
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn) rs758615955 0.00002
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984 0.00002
NM_001363.5(DKC1):c.1335G>A (p.Ala445=) rs782765291 0.00002
NM_001363.5(DKC1):c.1338+13C>T rs781802524 0.00002
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) rs1557265675 0.00002
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala) rs781923825 0.00002
NM_001363.5(DKC1):c.1476+20G>A rs782675825 0.00002
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) rs781849751 0.00002
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494 0.00002
NM_017838.4(NHP2):c.112C>T (p.Leu38=) rs925125777 0.00002
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn) rs761328868 0.00002
NM_017838.4(NHP2):c.160+8G>A rs777793268 0.00002
NM_017838.4(NHP2):c.195A>G (p.Lys65=) rs543057099 0.00002
NM_017838.4(NHP2):c.235A>T (p.Met79Leu) rs377700562 0.00002
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn) rs757358075 0.00002
NM_025099.6(CTC1):c.*1553C>T rs986375644 0.00002
NM_025099.6(CTC1):c.*2685C>T rs886053588 0.00002
NM_025099.6(CTC1):c.*642A>G rs1282456436 0.00002
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr) rs376721027 0.00002
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe) rs199532891 0.00002
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320 0.00002
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys) rs779866795 0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.1398C>G (p.Leu466=) rs777305874 0.00002
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser) rs369917627 0.00002
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala) rs371714831 0.00002
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp) rs901245332 0.00002
NM_025099.6(CTC1):c.1945+8G>A rs746083383 0.00002
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly) rs1366348022 0.00002
NM_025099.6(CTC1):c.198-10C>T rs764516700 0.00002
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513 0.00002
NM_025099.6(CTC1):c.2476-6G>A rs768967446 0.00002
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala) rs758218109 0.00002
NM_025099.6(CTC1):c.2683T>C (p.Leu895=) rs764648488 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.2785G>A (p.Val929Met) rs778339506 0.00002
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val) rs758498343 0.00002
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076 0.00002
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His) rs776956576 0.00002
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser) rs1393187047 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361 0.00002
NM_025099.6(CTC1):c.3515-9C>T rs1225599531 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.390C>T (p.Asn130=) rs559790131 0.00002
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.647+4A>G rs751360780 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.793-17G>A rs751885616 0.00002
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly) rs923853643 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_198253.3(TERT):c.1422C>T (p.Pro474=) rs139133620 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.672C>T (p.Arg224=) rs996032219 0.00002
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=) rs1295609085 0.00001
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) rs368350757 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=) rs948013496 0.00001
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744 0.00001
NM_001099274.3(TINF2):c.1222-5T>G rs763885098 0.00001
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909 0.00001
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp) rs771709910 0.00001
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) rs756840009 0.00001
NM_001099274.3(TINF2):c.129T>C (p.Ala43=) rs1488023738 0.00001
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=) rs750447210 0.00001
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val) rs777060713 0.00001
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu) rs1184256281 0.00001
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=) rs1414894689 0.00001
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263 0.00001
NM_001099274.3(TINF2):c.141C>T (p.Gly47=) rs1351749746 0.00001
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs) rs1334044756 0.00001
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly) rs753814680 0.00001
NM_001099274.3(TINF2):c.167G>A (p.Arg56His) rs777925529 0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=) rs1374640214 0.00001
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser) rs1043122818 0.00001
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr) rs776604725 0.00001
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro) rs959871602 0.00001
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu) rs746984199 0.00001
NM_001099274.3(TINF2):c.400-4G>A rs1566368389 0.00001
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys) rs1429817346 0.00001
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418 0.00001
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325 0.00001
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001099274.3(TINF2):c.508-19C>T rs750306834 0.00001
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe) rs772502368 0.00001
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu) rs775914928 0.00001
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) rs377436580 0.00001
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) rs746287594 0.00001
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe) rs754706260 0.00001
NM_001099274.3(TINF2):c.684C>T (p.His228=) rs370555134 0.00001
NM_001099274.3(TINF2):c.69G>A (p.Val23=) rs1280950659 0.00001
NM_001099274.3(TINF2):c.716A>C (p.His239Pro) rs2040558735 0.00001
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) rs775202856 0.00001
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg) rs766671951 0.00001
NM_001099274.3(TINF2):c.759A>G (p.Leu253=) rs1456646494 0.00001
NM_001099274.3(TINF2):c.765C>A (p.Gly255=) rs1171794268 0.00001
NM_001099274.3(TINF2):c.783C>A (p.Ala261=) rs1468911267 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln) rs200025766 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter) rs1232383398 0.00001
NM_001099274.3(TINF2):c.930G>A (p.Ala310=) rs778877023 0.00001
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) rs757221051 0.00001
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro) rs755072937 0.00001
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter) rs903141690 0.00001
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr) rs750745512 0.00001
NM_001143992.2(WRAP53):c.1241A>G (p.Asn414Ser) rs543868835 0.00001
NM_001143992.2(WRAP53):c.636A>G (p.Ala212=) rs2074083397 0.00001
NM_001143992.2(WRAP53):c.752A>G (p.Glu251Gly) rs1255617679 0.00001
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met) rs371141081 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln) rs779873020 0.00001
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1417C>T (p.Arg473Cys) rs1409999749 0.00001
NM_001283009.2(RTEL1):c.1460C>T (p.Ser487Phe) rs764219586 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.1482-10C>G rs754623770 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu) rs1189892333 0.00001
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val) rs779562019 0.00001
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=) rs1177652366 0.00001
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln) rs763415620 0.00001
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=) rs757075776 0.00001
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=) rs1405032353 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met) rs200847054 0.00001
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe) rs1323023332 0.00001
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu) rs773159241 0.00001
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His) rs1035926074 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2158G>A (p.Ala720Thr) rs755928414 0.00001
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser) rs774311444 0.00001
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu) rs761805038 0.00001
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala) rs756711633 0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091 0.00001
NM_001283009.2(RTEL1):c.2542C>A (p.Pro848Thr) rs1295440820 0.00001
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp) rs1465417616 0.00001
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His) rs754727644 0.00001
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu) rs755652402 0.00001
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn) rs369357121 0.00001
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val) rs1239433355 0.00001
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val) rs750311914 0.00001
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=) rs116365288 0.00001
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=) rs1331174859 0.00001
NM_001283009.2(RTEL1):c.3037G>A (p.Ala1013Thr) rs142568980 0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val) rs569586118 0.00001
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=) rs148099608 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=) rs762571471 0.00001
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser) rs368303890 0.00001
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr) rs780364760 0.00001
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val) rs771545243 0.00001
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn) rs761447586 0.00001
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn) rs764303844 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3344-6C>G rs1455821579 0.00001
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=) rs778831023 0.00001
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His) rs771768208 0.00001
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe) rs200622914 0.00001
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu) rs746759990 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.3530C>T (p.Thr1177Ile) rs755098827 0.00001
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=) rs760713860 0.00001
NM_001283009.2(RTEL1):c.3823-3C>T rs1242643276 0.00001
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln) rs762587175 0.00001
NM_001283009.2(RTEL1):c.396-79C>T rs776396450 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_001283009.2(RTEL1):c.477+7T>C rs141915461 0.00001
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His) rs750794827 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys) rs866782181 0.00001
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr) rs1555901763 0.00001
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val) rs781943265 0.00001
NM_001363.5(DKC1):c.1155+19C>G rs782728035 0.00001
NM_001363.5(DKC1):c.1156-7C>T rs1397887971 0.00001
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) rs1347625639 0.00001
NM_001363.5(DKC1):c.1281G>A (p.Val427=) rs781964348 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) rs782117503 0.00001
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.138G>A (p.Lys46=) rs369777662 0.00001
NM_001363.5(DKC1):c.1455C>T (p.Ser485=) rs782136109 0.00001
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) rs1557265697 0.00001
NM_001363.5(DKC1):c.1476+13A>G rs781810616 0.00001
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) rs1557265768 0.00001
NM_001363.5(DKC1):c.1500G>A (p.Lys500=) rs782551669 0.00001
NM_001363.5(DKC1):c.1509G>A (p.Lys503=) rs782703327 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) rs782491403 0.00001
NM_001363.5(DKC1):c.262A>C (p.Arg88=) rs782317228 0.00001
NM_001363.5(DKC1):c.263+16A>G rs782490890 0.00001
NM_001363.5(DKC1):c.264-8C>A rs1557264149 0.00001
NM_001363.5(DKC1):c.36A>G (p.Lys12=) rs781936419 0.00001
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075 0.00001
NM_001363.5(DKC1):c.449-10C>G rs1167594740 0.00001
NM_001363.5(DKC1):c.468T>A (p.Ile156=) rs782504051 0.00001
NM_001363.5(DKC1):c.519A>G (p.Leu173=) rs1466942555 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.538T>C (p.Leu180=) rs1557264297 0.00001
NM_001363.5(DKC1):c.640+3G>A rs1557264306 0.00001
NM_001363.5(DKC1):c.912T>C (p.Ser304=) rs782525899 0.00001
NM_001363.5(DKC1):c.915+9C>T rs1557264657 0.00001
NM_001363.5(DKC1):c.916-6C>G rs782345716 0.00001
NM_001363.5(DKC1):c.96C>T (p.His32=) rs1557264045 0.00001
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) rs140273992 0.00001
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_017838.4(NHP2):c.160+9G>A rs756638436 0.00001
NM_017838.4(NHP2):c.161-2A>T rs766032992 0.00001
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln) rs769920343 0.00001
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser) rs1756325870 0.00001
NM_017838.4(NHP2):c.230+19C>G rs1244247196 0.00001
NM_017838.4(NHP2):c.236T>C (p.Met79Thr) rs1426285845 0.00001
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn) rs769331750 0.00001
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly) rs201129701 0.00001
NM_017838.4(NHP2):c.336G>A (p.Thr112=) rs746472214 0.00001
NM_017838.4(NHP2):c.434A>T (p.Glu145Val) rs143501297 0.00001
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys) rs779452625 0.00001
NM_017838.4(NHP2):c.449C>A (p.Pro150His) rs1401974529 0.00001
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala) rs1196159721 0.00001
NM_025099.6(CTC1):c.*1061C>T rs1240025210 0.00001
NM_025099.6(CTC1):c.*1204T>C rs886053602 0.00001
NM_025099.6(CTC1):c.*1565A>G rs886053598 0.00001
NM_025099.6(CTC1):c.*1578T>A rs535373058 0.00001
NM_025099.6(CTC1):c.*1939G>A rs886053593 0.00001
NM_025099.6(CTC1):c.*1994A>G rs897034375 0.00001
NM_025099.6(CTC1):c.*2337G>A rs1311396995 0.00001
NM_025099.6(CTC1):c.*286G>A rs886053606 0.00001
NM_025099.6(CTC1):c.*305G>A rs1161700028 0.00001
NM_025099.6(CTC1):c.*384G>A rs912438390 0.00001
NM_025099.6(CTC1):c.*509C>T rs758527781 0.00001
NM_025099.6(CTC1):c.*759A>G rs1986820804 0.00001
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser) rs374857685 0.00001
NM_025099.6(CTC1):c.1032G>A (p.Lys344=) rs376394434 0.00001
NM_025099.6(CTC1):c.1047T>C (p.Leu349=) rs1161961298 0.00001
NM_025099.6(CTC1):c.105T>C (p.Asn35=) rs775601506 0.00001
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416 0.00001
NM_025099.6(CTC1):c.1077+6C>T rs199696637 0.00001
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala) rs763967881 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=) rs1170351542 0.00001
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys) rs780333162 0.00001
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr) rs1417486388 0.00001
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241 0.00001
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln) rs1478316787 0.00001
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680 0.00001
NM_025099.6(CTC1):c.1206+7G>C rs949969553 0.00001
NM_025099.6(CTC1):c.1207-7C>A rs746123381 0.00001
NM_025099.6(CTC1):c.1219C>A (p.His407Asn) rs1286168861 0.00001
NM_025099.6(CTC1):c.1242G>A (p.Gly414=) rs778096377 0.00001
NM_025099.6(CTC1):c.1277G>A (p.Arg426His) rs1215600600 0.00001
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser) rs749511585 0.00001
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr) rs1382263305 0.00001
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile) rs191350236 0.00001
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586 0.00001
NM_025099.6(CTC1):c.12C>G (p.Gly4=) rs758287945 0.00001
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys) rs764414504 0.00001
NM_025099.6(CTC1):c.1350C>T (p.Ala450=) rs763760200 0.00001
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys) rs774972007 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1467C>T (p.His489=) rs755429023 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) rs202213253 0.00001
NM_025099.6(CTC1):c.1515A>G (p.Gln505=) rs759341353 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu) rs747574053 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg) rs1371252082 0.00001
NM_025099.6(CTC1):c.1617+8G>A rs200232133 0.00001
NM_025099.6(CTC1):c.1618-14T>C rs767597943 0.00001
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=) rs765073204 0.00001
NM_025099.6(CTC1):c.1635T>C (p.Thr545=) rs768300804 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.1650C>T (p.Pro550=) rs368449753 0.00001
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly) rs371121503 0.00001
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys) rs1351692819 0.00001
NM_025099.6(CTC1):c.1710G>A (p.Lys570=) rs376757390 0.00001
NM_025099.6(CTC1):c.1743G>A (p.Leu581=) rs1256128659 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val) rs760274760 0.00001
NM_025099.6(CTC1):c.1759A>C (p.Asn587His) rs774920348 0.00001
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624 0.00001
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr) rs963962577 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.183G>A (p.Leu61=) rs1273538880 0.00001
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504 0.00001
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln) rs377423237 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu) rs773628396 0.00001
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln) rs1243670945 0.00001
NM_025099.6(CTC1):c.1974G>T (p.Gln658His) rs779228652 0.00001
NM_025099.6(CTC1):c.1980C>T (p.Ile660=) rs929139383 0.00001
NM_025099.6(CTC1):c.1993G>A (p.Val665Met) rs751450242 0.00001
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser) rs750104621 0.00001
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861 0.00001
NM_025099.6(CTC1):c.2061-7C>T rs766368157 0.00001
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr) rs778524852 0.00001
NM_025099.6(CTC1):c.2121T>G (p.Leu707=) rs899017902 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile) rs547897675 0.00001
NM_025099.6(CTC1):c.21G>C (p.Gln7His) rs370153216 0.00001
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg) rs774606496 0.00001
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys) rs752134243 0.00001
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln) rs1417430299 0.00001
NM_025099.6(CTC1):c.2250A>G (p.Pro750=) rs200036724 0.00001
NM_025099.6(CTC1):c.2277C>T (p.Pro759=) rs1264286773 0.00001
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433 0.00001
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu) rs1287605629 0.00001
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln) rs753665719 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083 0.00001
NM_025099.6(CTC1):c.2376T>C (p.Asn792=) rs1206581935 0.00001
NM_025099.6(CTC1):c.2385+18G>A rs1449666905 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.2417G>A (p.Arg806His) rs750387015 0.00001
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206 0.00001
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser) rs776324067 0.00001
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu) rs764138772 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2476-15C>G rs748214993 0.00001
NM_025099.6(CTC1):c.2476-20G>A rs374177499 0.00001
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys) rs757061571 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg) rs1226186528 0.00001
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile) rs754425018 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser) rs1034774367 0.00001
NM_025099.6(CTC1):c.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.26C>G (p.Pro9Arg) rs377386669 0.00001
NM_025099.6(CTC1):c.2712A>G (p.Ser904=) rs1597376076 0.00001
NM_025099.6(CTC1):c.2729C>A (p.Pro910His) rs532454635 0.00001
NM_025099.6(CTC1):c.2730C>T (p.Pro910=) rs1302556489 0.00001
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560 0.00001
NM_025099.6(CTC1):c.2759-10C>A rs766460177 0.00001
NM_025099.6(CTC1):c.2759-18C>T rs751836178 0.00001
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys) rs753289258 0.00001
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met) rs760623153 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627 0.00001
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser) rs751570124 0.00001
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln) rs759485791 0.00001
NM_025099.6(CTC1):c.28T>A (p.Ser10Thr) rs781595383 0.00001
NM_025099.6(CTC1):c.2934-16C>T rs759449159 0.00001
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys) rs1471047572 0.00001
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu) rs368344044 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu) rs780572571 0.00001
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=) rs1228344704 0.00001
NM_025099.6(CTC1):c.306T>C (p.Asn102=) rs1469406841 0.00001
NM_025099.6(CTC1):c.30C>T (p.Ser10=) rs200258559 0.00001
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg) rs1486092046 0.00001
NM_025099.6(CTC1):c.3156+13A>C rs554186531 0.00001
NM_025099.6(CTC1):c.3156+18C>T rs1987003651 0.00001
NM_025099.6(CTC1):c.3157-3C>T rs1010558106 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys) rs751960515 0.00001
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418 0.00001
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln) rs564631876 0.00001
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu) rs1986954991 0.00001
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys) rs372789589 0.00001
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro) rs1445322884 0.00001
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=) rs779335414 0.00001
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=) rs759771248 0.00001
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe) rs1446511863 0.00001
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile) rs554183453 0.00001
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His) rs748674791 0.00001
NM_025099.6(CTC1):c.3514+14C>T rs551437595 0.00001
NM_025099.6(CTC1):c.3514+3A>G rs759039342 0.00001
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp) rs747504166 0.00001
NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter) rs562356966 0.00001
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=) rs750119408 0.00001
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe) rs892408695 0.00001
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr) rs777260624 0.00001
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu) rs767073205 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.435+12G>A rs1246653256 0.00001
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.485G>A (p.Arg162His) rs199966003 0.00001
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100 0.00001
NM_025099.6(CTC1):c.534C>T (p.His178=) rs1251648065 0.00001
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala) rs766180217 0.00001
NM_025099.6(CTC1):c.592G>A (p.Val198Ile) rs989763856 0.00001
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro) rs1221916551 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu) rs1456198284 0.00001
NM_025099.6(CTC1):c.5C>A (p.Ala2Glu) rs749391693 0.00001
NM_025099.6(CTC1):c.647+12C>G rs750369449 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro) rs774742711 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile) rs1007776903 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.780C>T (p.Ser260=) rs769988270 0.00001
NM_025099.6(CTC1):c.786C>T (p.Ile262=) rs781453163 0.00001
NM_025099.6(CTC1):c.793-13C>G rs957555496 0.00001
NM_025099.6(CTC1):c.79C>G (p.Leu27Val) rs369069450 0.00001
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly) rs370483878 0.00001
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp) rs1987719230 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys) rs373549661 0.00001
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.918T>C (p.Arg306=) rs770766250 0.00001
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln) rs1480736168 0.00001
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg) rs765673141 0.00001
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg) rs937598790 0.00001
NM_025099.6(CTC1):c.99G>A (p.Glu33=) rs201091226 0.00001
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1657G>A (p.Val553Ile) rs749051614 0.00001
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089 0.00001
NM_198253.3(TERT):c.1890G>T (p.Leu630=) rs1749926290 0.00001
NM_198253.3(TERT):c.1958G>A (p.Arg653His) rs890242322 0.00001
NM_198253.3(TERT):c.2250C>T (p.Ala750=) rs941567959 0.00001
NM_198253.3(TERT):c.2355G>A (p.Pro785=) rs545260840 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3157+3A>T rs369807900 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NM_198253.3(TERT):c.702G>C (p.Leu234Phe) rs754359147 0.00001
NR_001566.1(TERC):n.193G>A rs753227339 0.00001
NC_000005.10:g.(?_177600191)_(178153837_?)dup
NC_000005.10:g.(?_178149693)_(178153837_?)del
NC_000005.10:g.(?_178149693)_(178153837_?)dup
NC_000005.10:g.(?_178149707)_(178153823_?)del
NC_000005.9:g.(?_177419710)_(177578014_?)dup
NC_000014.8:g.(?_24707479)_(24711538_?)dup
NC_000014.8:g.(?_24711327)_(24731558_?)dup
NC_000017.10:g.(?_6589506)_(8151374_?)dup
NC_000017.10:g.(?_8131498)_(8151354_?)del
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.10:g.(?_8146283)_(8146486_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NC_000023.10:g.(?_153991100)_(153993815_?)dup
NC_000023.10:g.(?_153991100)_(154005142_?)dup
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) rs2144258402
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001071.4(TYMS):c.556+1G>A rs2144335968
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) rs1703168604
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro) rs1440307893
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) rs2040546606
NM_001099274.3(TINF2):c.1061+14A>G rs1040503982
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1061+8_1061+9del
NM_001099274.3(TINF2):c.1062-14_1062-11del rs2138996774
NM_001099274.3(TINF2):c.1062-15T>C
NM_001099274.3(TINF2):c.1062-18T>C
NM_001099274.3(TINF2):c.1062-19_1062-18del
NM_001099274.3(TINF2):c.1062-2A>G
NM_001099274.3(TINF2):c.1062-4T>G rs769661599
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) rs1459244615
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) rs368350757
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) rs2040542787
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) rs374740382
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) rs2138996481
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) rs2040541718
NM_001099274.3(TINF2):c.1123_1129+1del rs1335513287
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) rs2138996390
NM_001099274.3(TINF2):c.1130-1G>T rs769640244
NM_001099274.3(TINF2):c.1130-3_1130-2del rs761173366
NM_001099274.3(TINF2):c.1130-4A>T
NM_001099274.3(TINF2):c.1130-7C>T
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) rs1367518236
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) rs192423622
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) rs2040535359
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu) rs765918306
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val) rs765918306
NM_001099274.3(TINF2):c.1221+11del
NM_001099274.3(TINF2):c.1221+14A>C rs776525717
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-2A>G rs1205167406
NM_001099274.3(TINF2):c.1222-3C>T rs760553298
NM_001099274.3(TINF2):c.1222-4A>T rs2138994887
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) rs2040530178
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.126C>T (p.Arg42=)
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) rs1346082542
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=) rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) rs780647966
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) rs756840009
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp) rs1282299077
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr) rs1455962316
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly) rs2138994183
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe) rs2139003740
NM_001099274.3(TINF2):c.146T>C (p.Val49Ala) rs1594555802
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys) rs757133062
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr) rs376204748
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
NM_001099274.3(TINF2):c.192+13G>A rs1566369386
NM_001099274.3(TINF2):c.192+9G>A
NM_001099274.3(TINF2):c.193-7C>T
NM_001099274.3(TINF2):c.199G>A (p.Val67Met) rs2040591219
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro) rs1329482510
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) rs2040599044
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu) rs2139003147
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg) rs2040590786
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val) rs1324581269
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg) rs2139003067
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
NM_001099274.3(TINF2):c.257_258del (p.His86fs) rs2040589135
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) rs2139002944
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) rs2040588888
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) rs754157164
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
NM_001099274.3(TINF2):c.294G>A (p.Lys98=) rs1594555123
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
NM_001099274.3(TINF2):c.297+10C>T rs775877509
NM_001099274.3(TINF2):c.297+13C>T
NM_001099274.3(TINF2):c.297+18C>A
NM_001099274.3(TINF2):c.297+18C>G
NM_001099274.3(TINF2):c.297+1G>A
NM_001099274.3(TINF2):c.297+4A>G
NM_001099274.3(TINF2):c.297+5G>A rs2139002864
NM_001099274.3(TINF2):c.298-10T>A rs1317116989
NM_001099274.3(TINF2):c.298-15C>T
NM_001099274.3(TINF2):c.298-19T>C
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu) rs2040584780
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) rs2139002450
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs) rs2139002396
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys) rs1594554700
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) rs2040583306
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys) rs2040598351
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
NM_001099274.3(TINF2):c.393G>A (p.Lys131=) rs1373380506
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
NM_001099274.3(TINF2):c.399+9G>C
NM_001099274.3(TINF2):c.400-10C>T rs2139001198
NM_001099274.3(TINF2):c.400-11C>G
NM_001099274.3(TINF2):c.400-12C>T
NM_001099274.3(TINF2):c.400-17A>C rs1182153400
NM_001099274.3(TINF2):c.400-3T>C rs2040574912
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.400-6C>T
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) rs770995315
NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr) rs2139001098
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=) rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
NM_001099274.3(TINF2):c.45C>G (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser) rs2139000919
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
NM_001099274.3(TINF2):c.507+12G>A
NM_001099274.3(TINF2):c.507+13del rs780404631
NM_001099274.3(TINF2):c.507+20T>C
NM_001099274.3(TINF2):c.507+6G>T rs142144996
NM_001099274.3(TINF2):c.508-10C>T
NM_001099274.3(TINF2):c.508-15T>C rs2139000398
NM_001099274.3(TINF2):c.508-18C>T rs780585800
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) rs2139000156
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
NM_001099274.3(TINF2):c.586A>G (p.Met196Val) rs2040566613
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile) rs1416935989
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
NM_001099274.3(TINF2):c.604+10A>G
NM_001099274.3(TINF2):c.604+13T>C
NM_001099274.3(TINF2):c.604+15G>A
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)
NM_001099274.3(TINF2):c.605-17C>T
NM_001099274.3(TINF2):c.605-20G>A
NM_001099274.3(TINF2):c.605-4del
NM_001099274.3(TINF2):c.606del (p.Glu202fs) rs2138999397
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) rs2138999303
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) rs372610524
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) rs2040560743
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) rs747792016
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) rs2040559007
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys) rs2139004072
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) rs1594551965
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
NM_001099274.3(TINF2):c.747C>T (p.His249=)
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg) rs2040597244
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro) rs2138998293
NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser) rs2138998258
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
NM_001099274.3(TINF2):c.837T>C (p.His279=)
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.864T>C (p.Phe288=) rs2138998003
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) rs1050040349
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr) rs746657282
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.919del (p.Glu307fs)
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr) rs745711329
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val) rs2040550859
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser) rs1391029850
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
NM_001099274.3(TINF2):c.984T>C (p.Ser328=) rs751773020
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) rs1238940302
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
NM_001099274.3(TINF2):c.9G>A (p.Thr3=) rs748683638
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)
NM_001143992.2(WRAP53):c.1020T>C (p.Tyr340=)
NM_001143992.2(WRAP53):c.1078C>G (p.Leu360Val)
NM_001143992.2(WRAP53):c.1313C>T (p.Ser438Phe)
NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr)
NM_001143992.2(WRAP53):c.457C>G (p.Leu153Val) rs571153185
NM_001143992.2(WRAP53):c.599C>G (p.Pro200Arg)
NM_001143992.2(WRAP53):c.611A>G (p.His204Arg) rs2074082963
NM_001143992.2(WRAP53):c.728C>T (p.Ser243Phe)
NM_001143992.2(WRAP53):c.950C>T (p.Thr317Ile)
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys) rs769658909
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=) rs1601138735
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His) rs999309460
NM_001283009.2(RTEL1):c.1481+8C>G rs758734115
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1596-8G>C rs374702981
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr) rs1408202470
NM_001283009.2(RTEL1):c.1722+10C>G rs542270397
NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu) rs914471851
NM_001283009.2(RTEL1):c.187C>G (p.Leu63Val) rs2090017111
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1968T>C (p.Val656=) rs757289575
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile) rs142039934
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=) rs1601170877
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu) rs141423196
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly) rs750251447
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile) rs767774517
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=) rs553827008
NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala) rs2090707732
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg) rs765909720
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653-7C>G rs1472538837
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln) rs2090784564
NM_001283009.2(RTEL1):c.2662G>A (p.Val888Met) rs200505378
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile) rs2145445906
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys) rs372027131
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr) rs781430438
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg) rs142969505
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser) rs761268803
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=) rs1282351226
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg) rs2090804992
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala) rs757725471
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=) rs768689934
NM_001283009.2(RTEL1):c.2939C>T (p.Pro980Leu) rs1340326956
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr) rs751124641
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2979C>A (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu) rs373210484
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser) rs1046295138
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala) rs2090912360
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile) rs776712596
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met) rs750539539
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=) rs1601194528
NM_001283009.2(RTEL1):c.3110-10C>G rs2090927100
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys) rs367809459
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=) rs1348086708
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn) rs778086975
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=) rs771667984
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=) rs776426684
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly) rs1193975279
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val) rs754275053
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg) rs372852392
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp) rs6062495
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys) rs200622914
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His) rs116773320
NM_001283009.2(RTEL1):c.3499+5_3499+6insT rs2145478219
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn) rs2145479866
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg) rs1601199974
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser) rs2090966039
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile) rs1428387350
NM_001283009.2(RTEL1):c.396-20A>G rs1601086623
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=) rs6062480
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu) rs1296968885
NM_001283009.2(RTEL1):c.477+6C>T rs1321816687
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His) rs377176432
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val) rs1235107432
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser) rs375403784
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=) rs748518636
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala) rs115889392
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp) rs779999090
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg) rs781117322
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val) rs958540765
NM_001363.5(DKC1):c.1036+10G>C
NM_001363.5(DKC1):c.1036+13G>A
NM_001363.5(DKC1):c.1036+19T>G
NM_001363.5(DKC1):c.1036+6_1036+7del rs1557264868
NM_001363.5(DKC1):c.1036+7G>A
NM_001363.5(DKC1):c.1037-13T>A
NM_001363.5(DKC1):c.1037-19C>T
NM_001363.5(DKC1):c.1037-20T>C
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly) rs2148515101
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln) rs2148515114
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
NM_001363.5(DKC1):c.1155+15del
NM_001363.5(DKC1):c.1155+19C>T
NM_001363.5(DKC1):c.1156-10G>A
NM_001363.5(DKC1):c.1156-13G>A
NM_001363.5(DKC1):c.1156-14del rs782420759
NM_001363.5(DKC1):c.1156-16C>G
NM_001363.5(DKC1):c.1156-17C>T
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met) rs2148516382
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)
NM_001363.5(DKC1):c.1179C>A (p.Ile393=) rs2148516390
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)
NM_001363.5(DKC1):c.1245G>A (p.Glu415=) rs2148516440
NM_001363.5(DKC1):c.1259+7dup
NM_001363.5(DKC1):c.1259+8C>T
NM_001363.5(DKC1):c.1260-11C>T
NM_001363.5(DKC1):c.1260-12C>T
NM_001363.5(DKC1):c.1266T>G (p.Ser422=) rs2148516857
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)
NM_001363.5(DKC1):c.126C>G (p.Ser42=) rs2148509477
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) rs2071881185
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
NM_001363.5(DKC1):c.12G>A (p.Ala4=)
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
NM_001363.5(DKC1):c.1338+10A>T
NM_001363.5(DKC1):c.1338+14T>C
NM_001363.5(DKC1):c.1338+15G>C
NM_001363.5(DKC1):c.1338+18C>G
NM_001363.5(DKC1):c.1338+20C>T rs2148516959
NM_001363.5(DKC1):c.1338+3G>C
NM_001363.5(DKC1):c.1339-13G>A
NM_001363.5(DKC1):c.1339-19C>T
NM_001363.5(DKC1):c.1339-20A>C
NM_001363.5(DKC1):c.1339-8C>T
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg) rs2148517505
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) rs2071893244
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) rs2071893601
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
NM_001363.5(DKC1):c.1383A>G (p.Ala461=) rs1293654532
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr) rs782434084
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1416G>A (p.Lys472=) rs2148517591
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)
NM_001363.5(DKC1):c.1476+11A>G rs2148517651
NM_001363.5(DKC1):c.1476+14C>T
NM_001363.5(DKC1):c.1477-10T>C
NM_001363.5(DKC1):c.1477-10_1477-9del
NM_001363.5(DKC1):c.1477-13T>G
NM_001363.5(DKC1):c.1477-14_1477-11del
NM_001363.5(DKC1):c.1477-1G>C rs2148517984
NM_001363.5(DKC1):c.1477-20T>C
NM_001363.5(DKC1):c.1477-28_1477-18del
NM_001363.5(DKC1):c.1477-8C>G
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)
NM_001363.5(DKC1):c.147G>A (p.Thr49=)
NM_001363.5(DKC1):c.1482T>C (p.Ser494=) rs2148518000
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) rs186518477
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)
NM_001363.5(DKC1):c.159C>T (p.Pro53=) rs2148509505
NM_001363.5(DKC1):c.16+10G>T
NM_001363.5(DKC1):c.16+11C>T
NM_001363.5(DKC1):c.16+18C>G
NM_001363.5(DKC1):c.16+24_16+39del rs2148507554
NM_001363.5(DKC1):c.16+8C>T
NM_001363.5(DKC1):c.17-10G>A rs2148509118
NM_001363.5(DKC1):c.17-14_17-13del rs782596086
NM_001363.5(DKC1):c.17-16G>A
NM_001363.5(DKC1):c.17-16G>T
NM_001363.5(DKC1):c.17-7T>A
NM_001363.5(DKC1):c.17-9T>A
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.171+16C>G
NM_001363.5(DKC1):c.171+16C>T
NM_001363.5(DKC1):c.171+17G>A
NM_001363.5(DKC1):c.171+8G>A rs2071734340
NM_001363.5(DKC1):c.172-12G>C
NM_001363.5(DKC1):c.172-18_172-14del
NM_001363.5(DKC1):c.189T>C (p.Asn63=)
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
NM_001363.5(DKC1):c.219A>G (p.Ala73=)
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg) rs2148509751
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.263+11G>A
NM_001363.5(DKC1):c.263+13del rs1343619839
NM_001363.5(DKC1):c.263+20A>C
NM_001363.5(DKC1):c.263+6T>C rs2071741038
NM_001363.5(DKC1):c.263+7G>T
NM_001363.5(DKC1):c.264-10T>C
NM_001363.5(DKC1):c.264-14T>C
NM_001363.5(DKC1):c.264-9C>T rs1300109572
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr) rs2148509897
NM_001363.5(DKC1):c.300C>G (p.Pro100=)
NM_001363.5(DKC1):c.30A>G (p.Pro10=)
NM_001363.5(DKC1):c.315G>A (p.Val105=) rs2148509927
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln) rs1036880108
NM_001363.5(DKC1):c.354A>C (p.Thr118=)
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.438A>G (p.Gln146=)
NM_001363.5(DKC1):c.448+11G>A
NM_001363.5(DKC1):c.448+18G>A rs2148510020
NM_001363.5(DKC1):c.448+19G>A
NM_001363.5(DKC1):c.448+19G>C
NM_001363.5(DKC1):c.448+19G>T
NM_001363.5(DKC1):c.449-13T>C rs2148510453
NM_001363.5(DKC1):c.449-17C>T
NM_001363.5(DKC1):c.475C>T (p.Leu159=)
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) rs2071754474
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) rs782622660
NM_001363.5(DKC1):c.498G>A (p.Gly166=)
NM_001363.5(DKC1):c.498G>C (p.Gly166=)
NM_001363.5(DKC1):c.513+12A>G
NM_001363.5(DKC1):c.513+19G>A
NM_001363.5(DKC1):c.513+20G>A
NM_001363.5(DKC1):c.513+7_513+8del
NM_001363.5(DKC1):c.514-10T>G
NM_001363.5(DKC1):c.514-14G>T
NM_001363.5(DKC1):c.514-18_514-15del
NM_001363.5(DKC1):c.514-4T>G
NM_001363.5(DKC1):c.514-8G>T rs2148510635
NM_001363.5(DKC1):c.516C>T (p.Ala172=)
NM_001363.5(DKC1):c.522A>G (p.Glu174=) rs782471921
NM_001363.5(DKC1):c.52_54del (p.Glu18del) rs2071726998
NM_001363.5(DKC1):c.540A>G (p.Leu180=) rs781897987
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) rs2071758363
NM_001363.5(DKC1):c.576G>A (p.Arg192=)
NM_001363.5(DKC1):c.579G>A (p.Gln193=)
NM_001363.5(DKC1):c.591G>A (p.Arg197=)
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) rs2071759206
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
NM_001363.5(DKC1):c.640+8A>C
NM_001363.5(DKC1):c.641-19_641-18del
NM_001363.5(DKC1):c.641-9G>T
NM_001363.5(DKC1):c.669C>T (p.Gly223=)
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
NM_001363.5(DKC1):c.684A>G (p.Thr228=)
NM_001363.5(DKC1):c.690T>C (p.Cys230=)
NM_001363.5(DKC1):c.709T>C (p.Leu237=)
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
NM_001363.5(DKC1):c.753T>A (p.Ser251=)
NM_001363.5(DKC1):c.75A>G (p.Glu25=) rs2148509198
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
NM_001363.5(DKC1):c.771+11C>T
NM_001363.5(DKC1):c.771+12G>A
NM_001363.5(DKC1):c.771+12G>T
NM_001363.5(DKC1):c.771+16del
NM_001363.5(DKC1):c.771+19G>C rs2148511663
NM_001363.5(DKC1):c.772-10del
NM_001363.5(DKC1):c.772-15A>G
NM_001363.5(DKC1):c.772-9G>A
NM_001363.5(DKC1):c.772-9G>C
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
NM_001363.5(DKC1):c.795T>C (p.Asp265=)
NM_001363.5(DKC1):c.816G>C (p.Leu272=)
NM_001363.5(DKC1):c.822T>C (p.Asp274=) rs1002559487
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.84+13G>C
NM_001363.5(DKC1):c.84+15dup
NM_001363.5(DKC1):c.84+16T>A
NM_001363.5(DKC1):c.84+19G>T
NM_001363.5(DKC1):c.84+8del
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)
NM_001363.5(DKC1):c.85-18A>G
NM_001363.5(DKC1):c.867G>A (p.Leu289=)
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.882A>G (p.Thr294=)
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) rs2071791712
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
NM_001363.5(DKC1):c.894G>T (p.Arg298=)
NM_001363.5(DKC1):c.897G>A (p.Leu299=)
NM_001363.5(DKC1):c.906A>G (p.Lys302=)
NM_001363.5(DKC1):c.90A>C (p.Ile30=)
NM_001363.5(DKC1):c.915+10G>A rs1603429509
NM_001363.5(DKC1):c.915+17G>A rs2148512556
NM_001363.5(DKC1):c.915+19G>A
NM_001363.5(DKC1):c.916-11C>T
NM_001363.5(DKC1):c.916-12C>G
NM_001363.5(DKC1):c.916-15dup rs1218146343
NM_001363.5(DKC1):c.916-5T>C rs2148513598
NM_001363.5(DKC1):c.916-6C>T rs782345716
NM_001363.5(DKC1):c.930C>T (p.Cys310=)
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
NM_001363.5(DKC1):c.939C>T (p.Ala313=)
NM_001363.5(DKC1):c.948G>T (p.Met316Ile) rs2148513624
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363.5(DKC1):c.969T>C (p.Tyr323=) rs2148513634
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) rs2071814299
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) rs2071814456
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
NM_001363.5(DKC1):c.99T>C (p.Ala33=)
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
NM_017838.4(NHP2):c.106dup (p.Gln36fs) rs1756333644
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp) rs1439650238
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs) rs1756332858
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
NM_017838.4(NHP2):c.132G>A (p.Thr44=) rs764657822
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg) rs2113476542
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
NM_017838.4(NHP2):c.160+10A>C rs376220034
NM_017838.4(NHP2):c.160+10A>G rs376220034
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017838.4(NHP2):c.160+11C>A rs201274409
NM_017838.4(NHP2):c.160+11C>G rs201274409
NM_017838.4(NHP2):c.160+11C>T rs201274409
NM_017838.4(NHP2):c.160+12G>A
NM_017838.4(NHP2):c.160+13G>A rs2113476424
NM_017838.4(NHP2):c.160+14C>A
NM_017838.4(NHP2):c.160+16G>A
NM_017838.4(NHP2):c.160+4A>C rs1419452406
NM_017838.4(NHP2):c.160+4A>G
NM_017838.4(NHP2):c.160+5G>C
NM_017838.4(NHP2):c.160+7C>T
NM_017838.4(NHP2):c.160+9del
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
NM_017838.4(NHP2):c.161-15C>G rs774227396
NM_017838.4(NHP2):c.161-4G>A
NM_017838.4(NHP2):c.161-5T>G
NM_017838.4(NHP2):c.161-7G>A
NM_017838.4(NHP2):c.161-8C>T
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
NM_017838.4(NHP2):c.163G>A (p.Val55Met) rs1756327381
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg) rs2113476084
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
NM_017838.4(NHP2):c.177G>C (p.Gln59His) rs2113476075
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp) rs773420072
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg) rs1756326801
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
NM_017838.4(NHP2):c.197_198del (p.Glu66fs) rs1333837047
NM_017838.4(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
NM_017838.4(NHP2):c.213C>G (p.Val71=) rs575702154
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn) rs2113475874
NM_017838.4(NHP2):c.230+13C>A
NM_017838.4(NHP2):c.230+13C>T rs1561645171
NM_017838.4(NHP2):c.230+16C>T
NM_017838.4(NHP2):c.230+4dup rs1581137979
NM_017838.4(NHP2):c.230+8C>A rs764940566
NM_017838.4(NHP2):c.231-13TC[2]
NM_017838.4(NHP2):c.231-13dup
NM_017838.4(NHP2):c.231-17_231-16del rs572960228
NM_017838.4(NHP2):c.231-20dup
NM_017838.4(NHP2):c.231-9T>C
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.4(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
NM_017838.4(NHP2):c.267_270del (p.Glu89fs) rs754436041
NM_017838.4(NHP2):c.27C>T (p.Asp9=) rs1178370439
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys) rs772671488
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys) rs760076146
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
NM_017838.4(NHP2):c.336+11C>T
NM_017838.4(NHP2):c.336+18C>T
NM_017838.4(NHP2):c.336+20_336+21del
NM_017838.4(NHP2):c.336+20del rs542745432
NM_017838.4(NHP2):c.336+2T>C
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln) rs1296058145
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg) rs750874926
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg) rs2113463207
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys) rs752392516
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
NM_017838.4(NHP2):c.366C>G (p.Arg122=) rs2113463130
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
NM_017838.4(NHP2):c.378G>A (p.Val126=) rs1756216301
NM_017838.4(NHP2):c.383T>C (p.Met128Thr) rs759145032
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del) rs1756214889
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn) rs1214412834
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
NM_017838.4(NHP2):c.447G>A (p.Leu149=) rs754228756
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly) rs121908091
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr) rs1373808491
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
NM_017838.4(NHP2):c.61dup (p.Glu21fs) rs780613876
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile) rs1341101133
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
NM_022762.5(RMND5B):c.*1817G>A rs1028921372
NM_022762.5(RMND5B):c.*1821G>A
NM_022762.5(RMND5B):c.*1824G>A
NM_025099.6(CTC1):c.*1052T>G rs201297846
NM_025099.6(CTC1):c.*1053T>C rs1158073985
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1103C>A rs75272219
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1129A>G rs370571497
NM_025099.6(CTC1):c.*1134G>A rs754222087
NM_025099.6(CTC1):c.*1148C>A rs534594967
NM_025099.6(CTC1):c.*1188C>T rs562025086
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C rs540304901
NM_025099.6(CTC1):c.*1200T>C rs80097010
NM_025099.6(CTC1):c.*1308T>A rs574820085
NM_025099.6(CTC1):c.*1420A>T rs533674362
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1474G>A rs78517666
NM_025099.6(CTC1):c.*1474G>C rs78517666
NM_025099.6(CTC1):c.*1477G>A rs112336268
NM_025099.6(CTC1):c.*1477G>C rs112336268
NM_025099.6(CTC1):c.*1477G>T rs112336268
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T rs796651282
NM_025099.6(CTC1):c.*1517G>A rs998188449
NM_025099.6(CTC1):c.*1531T>C rs558571255
NM_025099.6(CTC1):c.*1542C>G rs886053599
NM_025099.6(CTC1):c.*1569C>T rs138405975
NM_025099.6(CTC1):c.*1600T>A rs751150794
NM_025099.6(CTC1):c.*1603T>A rs763671822
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C rs3027251
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1867G>A rs961793089
NM_025099.6(CTC1):c.*1868C>A rs535981109
NM_025099.6(CTC1):c.*1900C>A rs1567590998
NM_025099.6(CTC1):c.*1913A>G rs1045049738
NM_025099.6(CTC1):c.*1933C>T rs752512394
NM_025099.6(CTC1):c.*1960C>G rs11650309
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A rs772156574
NM_025099.6(CTC1):c.*2090G>A rs1033226989
NM_025099.6(CTC1):c.*2242G>A rs868833357
NM_025099.6(CTC1):c.*2425T>C rs1986579685
NM_025099.6(CTC1):c.*2498G>A rs952734766
NM_025099.6(CTC1):c.*2536C>T rs1656306673
NM_025099.6(CTC1):c.*2725T>A rs1986555540
NM_025099.6(CTC1):c.*274C>T rs533383004
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2926G>C rs934312840
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*3255G>C rs8072663
NM_025099.6(CTC1):c.*429C>T rs1286225682
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A rs183099496
NM_025099.6(CTC1):c.*808G>A rs1986816320
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala) rs2151523075
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp) rs771874794
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu) rs776408496
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala) rs2151522938
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser) rs2151522938
NM_025099.6(CTC1):c.1042del (p.Ser348fs) rs1290803035
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg) rs2151522868
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
NM_025099.6(CTC1):c.1066C>T (p.Leu356=) rs1244119231
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1077+1G>A
NM_025099.6(CTC1):c.1077G>A (p.Ser359=) rs767741611
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
NM_025099.6(CTC1):c.1078-4G>A rs375114652
NM_025099.6(CTC1):c.1078-4G>T rs375114652
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT rs2151522382
NM_025099.6(CTC1):c.1078-8G>A
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
NM_025099.6(CTC1):c.108C>T (p.Val36=) rs2151546050
NM_025099.6(CTC1):c.1093G>A (p.Val365Met) rs753519460
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys) rs2151522187
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys) rs1987674659
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter) rs1987674659
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg) rs1987673814
NM_025099.6(CTC1):c.1135C>T (p.Leu379=) rs1597385203
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly) rs748695989
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter) rs1203574273
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly) rs1987666643
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
NM_025099.6(CTC1):c.1195G>A (p.Val399Met) rs1197080779
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
NM_025099.6(CTC1):c.1206+13A>G
NM_025099.6(CTC1):c.1206+16G>A
NM_025099.6(CTC1):c.1206+19G>A
NM_025099.6(CTC1):c.1207-1G>C
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.122del (p.Leu41fs)
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
NM_025099.6(CTC1):c.1245G>C (p.Gly415=) rs1987612163
NM_025099.6(CTC1):c.1263C>T (p.Leu421=) rs536218211
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1281C>A (p.Gly427=) rs754774538
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val) rs2151520028
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe) rs2151520002
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
NM_025099.6(CTC1):c.12C>T (p.Gly4=)
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu) rs761520320
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu) rs2151519873
NM_025099.6(CTC1):c.1320G>T (p.Gly440=) rs2151519856
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe) rs1987600358
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
NM_025099.6(CTC1):c.1332C>G (p.Ser444=) rs1987600121
NM_025099.6(CTC1):c.1334G>A (p.Arg445His) rs768361173
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr) rs1223603855
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr) rs778433916
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
NM_025099.6(CTC1):c.1354C>T (p.Leu452=) rs1987595222
NM_025099.6(CTC1):c.1371G>T (p.Val457=) rs2151519516
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
NM_025099.6(CTC1):c.1383G>T (p.Gln461His) rs145192682
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys) rs1987589226
NM_025099.6(CTC1):c.1404G>A (p.Leu468=) rs1987588693
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
NM_025099.6(CTC1):c.1439+17C>T rs1467120986
NM_025099.6(CTC1):c.1439+7A>G rs1987585756
NM_025099.6(CTC1):c.1439+7_1439+9del rs1391648072
NM_025099.6(CTC1):c.1439+8G>A
NM_025099.6(CTC1):c.1439+9G>C
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
NM_025099.6(CTC1):c.1440-20_1440-19del rs1332067370
NM_025099.6(CTC1):c.1440-5C>T rs1987573771
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn) rs770798986
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
NM_025099.6(CTC1):c.147C>G (p.Val49=)
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
NM_025099.6(CTC1):c.1494G>A (p.Gly498=) rs750860792
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala) rs1359625369
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln) rs1449419140
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
NM_025099.6(CTC1):c.1509A>G (p.Gly503=) rs2151518608
NM_025099.6(CTC1):c.1539T>C (p.Leu513=) rs2151518499
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
NM_025099.6(CTC1):c.1564C>A (p.Arg522=) rs199698527
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly) rs199698527
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp) rs2151518271
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe) rs201560353
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
NM_025099.6(CTC1):c.1593G>A (p.Glu531=) rs1407136775
NM_025099.6(CTC1):c.1597C>G (p.His533Asp) rs1302748336
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
NM_025099.6(CTC1):c.15G>C (p.Arg5=) rs1252023203
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
NM_025099.6(CTC1):c.1617+13G>A
NM_025099.6(CTC1):c.1617+13G>T
NM_025099.6(CTC1):c.1617+1G>T rs1201400384
NM_025099.6(CTC1):c.1617+5G>A
NM_025099.6(CTC1):c.1617+5G>T
NM_025099.6(CTC1):c.1617+7G>C
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
NM_025099.6(CTC1):c.1618-16C>T
NM_025099.6(CTC1):c.1618-8C>T rs2151517816
NM_025099.6(CTC1):c.1618-9C>T rs2151517821
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
NM_025099.6(CTC1):c.1638C>T (p.Pro546=) rs2151517678
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys) rs2151545851
NM_025099.6(CTC1):c.165G>A (p.Arg55=) rs2151545845
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del) rs756079894
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs) rs1237260493
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys) rs1987533999
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.1683T>G (p.Arg561=) rs1285328109
NM_025099.6(CTC1):c.1688C>T (p.Ala563Val)
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr) rs2151517418
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)
NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser) rs2151517400
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1719G>C (p.Leu573=) rs1282827614
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu) rs926565387
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp) rs1988400898
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
NM_025099.6(CTC1):c.1766G>A (p.Arg589His) rs771224545
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe) rs767152748
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys) rs2151517027
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
NM_025099.6(CTC1):c.1797C>T (p.Pro599=) rs2151516939
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
NM_025099.6(CTC1):c.1818+17C>T
NM_025099.6(CTC1):c.1818+4A>G
NM_025099.6(CTC1):c.1819-12A>T
NM_025099.6(CTC1):c.1819-17C>T
NM_025099.6(CTC1):c.1819-19A>C
NM_025099.6(CTC1):c.1819-21_1819-17del rs2151513134
NM_025099.6(CTC1):c.1819-4G>T
NM_025099.6(CTC1):c.181C>T (p.Leu61=) rs1439520622
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val) rs1987375790
NM_025099.6(CTC1):c.1857T>C (p.Gly619=) rs2151512859
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
NM_025099.6(CTC1):c.1890G>A (p.Leu630=) rs765952322
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
NM_025099.6(CTC1):c.18C>G (p.Ala6=) rs377706974
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter) rs2151512520
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro) rs1987370776
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
NM_025099.6(CTC1):c.1923C>T (p.Pro641=) rs1432613856
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln) rs1342587450
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
NM_025099.6(CTC1):c.1945+10del
NM_025099.6(CTC1):c.1945+19G>A rs2151512377
NM_025099.6(CTC1):c.1946-11T>C rs372245030
NM_025099.6(CTC1):c.1946-11T>G
NM_025099.6(CTC1):c.1946-13T>C
NM_025099.6(CTC1):c.1946-17A>G
NM_025099.6(CTC1):c.1946-4C>T
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
NM_025099.6(CTC1):c.1956G>A (p.Val652=) rs2151511215
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
NM_025099.6(CTC1):c.197+18T>C
NM_025099.6(CTC1):c.197+8G>A
NM_025099.6(CTC1):c.198-12T>G rs2151532365
NM_025099.6(CTC1):c.198-15C>G
NM_025099.6(CTC1):c.198-17T>C
NM_025099.6(CTC1):c.198-20C>G
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln) rs1341299177
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
NM_025099.6(CTC1):c.1992C>T (p.Asp664=) rs755004377
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser) rs757849997
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.1A>G (p.Met1Val)
NM_025099.6(CTC1):c.1A>T (p.Met1Leu)
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
NM_025099.6(CTC1):c.2019G>A (p.Lys673=) rs2151510979
NM_025099.6(CTC1):c.201C>T (p.Phe67=) rs552540195
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val) rs1987321255
NM_025099.6(CTC1):c.2037C>T (p.Gly679=) rs2151510889
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val) rs2151510882
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2060+13G>C
NM_025099.6(CTC1):c.2060+18A>G
NM_025099.6(CTC1):c.2060+5G>A
NM_025099.6(CTC1):c.2060+6_2060+13del rs2151510765
NM_025099.6(CTC1):c.2060+9C>A rs2151510790
NM_025099.6(CTC1):c.2061-12C>G
NM_025099.6(CTC1):c.2061-14G>T rs774632748
NM_025099.6(CTC1):c.2061-20T>G
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu) rs369717598
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
NM_025099.6(CTC1):c.210A>G (p.Val70=)
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter) rs1201426650
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro) rs1987295113
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
NM_025099.6(CTC1):c.2152G>C (p.Asp718His) rs1458344790
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser) rs771821232
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.2166A>G (p.Pro722=) rs2151509876
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
NM_025099.6(CTC1):c.2210A>G (p.His737Arg) rs537646611
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
NM_025099.6(CTC1):c.2235T>C (p.Asn745=) rs2151509581
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
NM_025099.6(CTC1):c.2244C>G (p.Val748=) rs758516017
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn) rs1987279014
NM_025099.6(CTC1):c.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu) rs2151509364
NM_025099.6(CTC1):c.228C>A (p.His76Gln) rs531109382
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs) rs2151509277
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala) rs2151509260
NM_025099.6(CTC1):c.22G>C (p.Val8Leu) rs1233799443
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
NM_025099.6(CTC1):c.2337T>C (p.Thr779=) rs1567603423
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser) rs1245008176
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
NM_025099.6(CTC1):c.237C>G (p.Leu79=) rs2151532137
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
NM_025099.6(CTC1):c.2385+1G>C rs2151508864
NM_025099.6(CTC1):c.2386-16C>T
NM_025099.6(CTC1):c.2386-16del
NM_025099.6(CTC1):c.2386-18T>G
NM_025099.6(CTC1):c.2386-20T>A rs374816662
NM_025099.6(CTC1):c.2386-20T>C rs374816662
NM_025099.6(CTC1):c.2386-5C>T rs757334155
NM_025099.6(CTC1):c.2391C>T (p.His797=)
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val) rs2151508501
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser) rs752957819
NM_025099.6(CTC1):c.2409T>C (p.Ser803=) rs1987252367
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg) rs1987946472
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu) rs772328631
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
NM_025099.6(CTC1):c.2466T>C (p.Pro822=) rs2151508201
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr) rs915406565
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
NM_025099.6(CTC1):c.2475+20A>G
NM_025099.6(CTC1):c.2475+3G>A rs1987244042
NM_025099.6(CTC1):c.2475+9C>A rs781404123
NM_025099.6(CTC1):c.2475+9C>G
NM_025099.6(CTC1):c.2475+9C>T rs781404123
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn) rs754510180
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
NM_025099.6(CTC1):c.24C>A (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys) rs1987214622
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr) rs377390001
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys) rs747249710
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser) rs1354260622
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val) rs1987209622
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs) rs1987208048
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
NM_025099.6(CTC1):c.2586T>G (p.Leu862=) rs2151506876
NM_025099.6(CTC1):c.258G>C (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.258G>T (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
NM_025099.6(CTC1):c.2619T>C (p.Asp873=) rs2151506753
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
NM_025099.6(CTC1):c.2631A>G (p.Ser877=) rs1335870783
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn) rs1987944023
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
NM_025099.6(CTC1):c.2669+13C>G
NM_025099.6(CTC1):c.2669+17C>A
NM_025099.6(CTC1):c.2669+18C>T rs769461004
NM_025099.6(CTC1):c.2670-12C>G rs1987142319
NM_025099.6(CTC1):c.2670-3C>G rs765650487
NM_025099.6(CTC1):c.2670-3C>T rs765650487
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr) rs754401174
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val) rs1408453833
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
NM_025099.6(CTC1):c.26C>A (p.Pro9His) rs377386669
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu) rs377386669
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val) rs2151504713
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
NM_025099.6(CTC1):c.2721A>G (p.Leu907=) rs776568637
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
NM_025099.6(CTC1):c.2742T>C (p.Ser914=) rs1248489024
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe) rs778391511
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg) rs1987130951
NM_025099.6(CTC1):c.2758+11T>C
NM_025099.6(CTC1):c.2758+4A>G rs754205135
NM_025099.6(CTC1):c.2758+7A>T rs2151504452
NM_025099.6(CTC1):c.2759-12T>C
NM_025099.6(CTC1):c.2759-20C>T
NM_025099.6(CTC1):c.2759-4A>G rs374727205
NM_025099.6(CTC1):c.2759-4A>T rs374727205
NM_025099.6(CTC1):c.2759-7T>G
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile) rs2151504059
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr) rs373660155
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
NM_025099.6(CTC1):c.27T>A (p.Pro9=)
NM_025099.6(CTC1):c.27T>C (p.Pro9=) rs2151564261
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser) rs1370736551
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser) rs1299588337
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu) rs1987110819
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser) rs1987108095
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu) rs1345126351
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
NM_025099.6(CTC1):c.2880dup (p.Leu961fs) rs2151503544
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
NM_025099.6(CTC1):c.2888del (p.Pro963fs) rs1987105095
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr) rs1987104593
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val) rs1987104355
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro) rs759485791
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
NM_025099.6(CTC1):c.2933+18C>T
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2933+8T>C rs1160513274
NM_025099.6(CTC1):c.2933+9G>A
NM_025099.6(CTC1):c.2934-3C>G
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.295G>C (p.Ala99Pro) rs2151531876
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter) rs62637613
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs) rs2151502269
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys) rs745686555
NM_025099.6(CTC1):c.29C>T (p.Ser10Phe) rs745686555
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.2T>C (p.Met1Thr) rs1299853886
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala) rs1987062062
NM_025099.6(CTC1):c.3011+19A>G
NM_025099.6(CTC1):c.3011+3C>T rs1316252024
NM_025099.6(CTC1):c.3012-12G>C
NM_025099.6(CTC1):c.3012-18C>T
NM_025099.6(CTC1):c.3012-20_3012-19del rs372844070
NM_025099.6(CTC1):c.3012-3T>C
NM_025099.6(CTC1):c.3012-5_3012-2del rs2151500920
NM_025099.6(CTC1):c.3012-7T>C
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=) rs1987021468
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
NM_025099.6(CTC1):c.303_316del (p.Asn102fs) rs2151531785
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln) rs2151500704
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro) rs1987017237
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro) rs1486092046
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys) rs1987939410
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val) rs1987009040
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=) rs1310614752
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
NM_025099.6(CTC1):c.3156+10G>A
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3157-14T>C
NM_025099.6(CTC1):c.3157-15C>T
NM_025099.6(CTC1):c.3157-16A>C rs1986997815
NM_025099.6(CTC1):c.3157-19A>G
NM_025099.6(CTC1):c.3157-7A>T rs2151500127
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=) rs1597373933
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp) rs957741030
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg) rs767106179
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu) rs760362880
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=) rs2151499882
NM_025099.6(CTC1):c.3221+14G>A
NM_025099.6(CTC1):c.3221+15C>T
NM_025099.6(CTC1):c.3221+19C>A rs2151499736
NM_025099.6(CTC1):c.3221+2T>C
NM_025099.6(CTC1):c.3221+5G>C rs1986987980
NM_025099.6(CTC1):c.3222-10C>G
NM_025099.6(CTC1):c.3222-10C>T
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter) rs372031509
NM_025099.6(CTC1):c.3231G>A (p.Val1077=) rs2151499073
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val) rs2151499036
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu) rs1209523245
NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg) rs1597373397
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg) rs1986957283
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala) rs2151498924
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr) rs773036519
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser) rs2151498826
NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr) rs1988915221
NM_025099.6(CTC1):c.33+13A>G
NM_025099.6(CTC1):c.33+15T>A
NM_025099.6(CTC1):c.33+17C>A
NM_025099.6(CTC1):c.33+2T>G rs2151564155
NM_025099.6(CTC1):c.33+4A>G rs1988914364
NM_025099.6(CTC1):c.33+6T>C
NM_025099.6(CTC1):c.33+7G>A
NM_025099.6(CTC1):c.33+7G>T rs1179270612
NM_025099.6(CTC1):c.33+9T>C
NM_025099.6(CTC1):c.33+9T>G rs373483074
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup) rs1986946908
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
NM_025099.6(CTC1):c.3387+1G>A rs1242486415
NM_025099.6(CTC1):c.3387+1G>C
NM_025099.6(CTC1):c.3387+3G>A rs2151498493
NM_025099.6(CTC1):c.3387+9T>C rs2151498469
NM_025099.6(CTC1):c.3388-11_3388-9del rs1262324249
NM_025099.6(CTC1):c.3388-19C>T
NM_025099.6(CTC1):c.3388-20C>G
NM_025099.6(CTC1):c.3388-22_3388-17del rs780812864
NM_025099.6(CTC1):c.3388-5T>C
NM_025099.6(CTC1):c.3388-7T>C rs752759103
NM_025099.6(CTC1):c.3388-8C>T
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr) rs1986931683
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.34-6C>T
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser) rs2151498057
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His) rs199473681
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser) rs771446414
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
NM_025099.6(CTC1):c.3456_3462del (p.Arg1153fs) rs1986920257
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3468G>T (p.Val1156=) rs1213104518
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu) rs1986917089
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=) rs952574848
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
NM_025099.6(CTC1):c.3514+15G>A
NM_025099.6(CTC1):c.3514+16G>C
NM_025099.6(CTC1):c.3514+16G>T
NM_025099.6(CTC1):c.3514+4A>G
NM_025099.6(CTC1):c.3514+7T>C
NM_025099.6(CTC1):c.3514+8T>G
NM_025099.6(CTC1):c.3515-19T>C rs2151497033
NM_025099.6(CTC1):c.3515-3C>T rs776835897
NM_025099.6(CTC1):c.3515-8C>T
NM_025099.6(CTC1):c.3515-8del rs2151496968
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu) rs1349506921
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln) rs764813118
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro) rs764813118
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=) rs755022443
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln) rs374942931
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=) rs2151496784
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly) rs2151496778
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly) rs199473682
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln) rs1206095374
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
NM_025099.6(CTC1):c.358C>T (p.Leu120=) rs2151531587
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
NM_025099.6(CTC1):c.360A>G (p.Leu120=) rs201957649
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=) rs2151496599
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=) rs2151496592
NM_025099.6(CTC1):c.3648C>G (p.Ser1216=) rs2151496576
NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg) rs1432386993
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
NM_025099.6(CTC1):c.383G>T (p.Cys128Phe) rs1339616084
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys) rs2151531350
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser) rs2151531295
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
NM_025099.6(CTC1):c.435+3G>T rs6503093
NM_025099.6(CTC1):c.435+9A>C
NM_025099.6(CTC1):c.436-10T>A
NM_025099.6(CTC1):c.436-17C>G
NM_025099.6(CTC1):c.436-1G>A
NM_025099.6(CTC1):c.438C>A (p.Leu146=) rs922605347
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
NM_025099.6(CTC1):c.450C>G (p.Asp150Glu) rs2151530771
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys) rs1987914806
NM_025099.6(CTC1):c.455C>T (p.Ser152Phe) rs1987914806
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter) rs2151530716
NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
NM_025099.6(CTC1):c.466C>G (p.His156Asp) rs1987914284
NM_025099.6(CTC1):c.467A>G (p.His156Arg)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro) rs747551190
NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
NM_025099.6(CTC1):c.52G>C (p.Asp18His) rs1988413224
NM_025099.6(CTC1):c.534C>G (p.His178Gln) rs1251648065
NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
NM_025099.6(CTC1):c.556G>A (p.Val186Met) rs185346402
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
NM_025099.6(CTC1):c.583C>T (p.Pro195Ser) rs2151530350
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
NM_025099.6(CTC1):c.591del (p.Val198fs) rs1567613669
NM_025099.6(CTC1):c.596C>G (p.Thr199Arg) rs747323535
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
NM_025099.6(CTC1):c.63C>G (p.Val21=)
NM_025099.6(CTC1):c.647+10C>A
NM_025099.6(CTC1):c.647+11C>T
NM_025099.6(CTC1):c.647+12del rs755954781
NM_025099.6(CTC1):c.647+18G>A rs373103137
NM_025099.6(CTC1):c.647+6T>C
NM_025099.6(CTC1):c.647+8C>T rs2151530046
NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
NM_025099.6(CTC1):c.648-8C>T rs2151527978
NM_025099.6(CTC1):c.656T>C (p.Leu219Pro) rs750372074
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp) rs1987831900
NM_025099.6(CTC1):c.66C>T (p.Phe22=)
NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
NM_025099.6(CTC1):c.697T>C (p.Leu233=) rs775207921
NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
NM_025099.6(CTC1):c.711G>A (p.Val237=) rs1196630450
NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
NM_025099.6(CTC1):c.737T>C (p.Ile246Thr) rs2151527713
NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
NM_025099.6(CTC1):c.745C>G (p.Leu249Val) rs1987824590
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe) rs1987824590
NM_025099.6(CTC1):c.751A>G (p.Arg251Gly) rs1987824097
NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
NM_025099.6(CTC1):c.768C>T (p.Val256=)
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
NM_025099.6(CTC1):c.774C>T (p.His258=)
NM_025099.6(CTC1):c.787G>A (p.Val263Met)
NM_025099.6(CTC1):c.787G>C (p.Val263Leu) rs1010062693
NM_025099.6(CTC1):c.792+12G>A rs2151527447
NM_025099.6(CTC1):c.792+9T>A
NM_025099.6(CTC1):c.793-18T>G rs2151524334
NM_025099.6(CTC1):c.793-20C>T
NM_025099.6(CTC1):c.793-4C>A
NM_025099.6(CTC1):c.793-4C>G
NM_025099.6(CTC1):c.793-8C>A rs2151524293
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr) rs1315598261
NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
NM_025099.6(CTC1):c.805C>T (p.Leu269=) rs898388984
NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
NM_025099.6(CTC1):c.810G>A (p.Val270=)
NM_025099.6(CTC1):c.811T>C (p.Trp271Arg) rs1313170347
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter) rs2151524168
NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
NM_025099.6(CTC1):c.826C>T (p.Arg276Trp) rs267605102
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.849G>C (p.Leu283=) rs2151523972
NM_025099.6(CTC1):c.853G>C (p.Glu285Gln) rs2151523962
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln) rs1987718148
NM_025099.6(CTC1):c.874C>G (p.Arg292Gly) rs1013688033
NM_025099.6(CTC1):c.875G>A (p.Arg292His)
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter) rs2151523798
NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del) rs2151523720
NM_025099.6(CTC1):c.892G>T (p.Val298Phe) rs2151523686
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu) rs567779457
NM_025099.6(CTC1):c.926T>G (p.Leu309Arg) rs1555534628
NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799
NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
NM_025099.6(CTC1):c.958_969del (p.318LE[1]) rs763129063
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
NM_025099.6(CTC1):c.979T>C (p.Leu327=) rs1987705280
NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr) rs2151523180
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) rs1156765768
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.2130+5G>A rs777102890
NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn) rs2126640445
NM_198253.3(TERT):c.2590C>T (p.Leu864=) rs777358007
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro) rs915854031
NM_198253.3(TERT):c.2844-12C>T rs199765802
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200
NM_198253.3(TERT):c.702G>A (p.Leu234=) rs754359147
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694

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