ClinVar Miner

List of variants reported as likely benign for Dyskeratosis congenita

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1049
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
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_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
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_001143992.2(WRAP53):c.1641G>T (p.Leu547=) rs146994329 0.00528
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
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_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
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_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
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.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_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_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_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.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=) rs141618172 0.00074
NM_025099.6(CTC1):c.*2115C>G rs187344168 0.00072
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
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_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.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
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.1482-7C>T rs189271525 0.00043
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_198253.3(TERT):c.1968G>A (p.Ser656=) rs368784316 0.00039
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_017838.4(NHP2):c.369C>T (p.Pro123=) rs375285426 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_001283009.2(RTEL1):c.372C>T (p.Asn124=) rs61736622 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_025099.6(CTC1):c.1207-4C>T rs369904656 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_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_001283009.2(RTEL1):c.1037+10G>A rs368590236 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_017838.4(NHP2):c.160+18G>T rs202078932 0.00027
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr) rs374126761 0.00027
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_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 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_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.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.1333C>T (p.Arg445Cys) rs201273283 0.00021
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_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.3567C>T (p.His1189=) rs374942931 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
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.838G>A (p.Glu280Lys) rs199701877 0.00018
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_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616 0.00016
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_001283009.2(RTEL1):c.1713G>A (p.Glu571=) rs141229183 0.00014
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=) rs201124470 0.00014
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388 0.00013
NM_001363.5(DKC1):c.399C>T (p.Ile133=) rs140714103 0.00013
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys) rs200150979 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
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_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.2987C>A (p.Pro996His) rs373210484 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.3600T>C (p.Ser1200=) rs761178911 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=) rs763364387 0.00010
NM_001363.5(DKC1):c.600C>T (p.Tyr200=) rs781789313 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_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.3585G>A (p.Ala1195=) rs368887784 0.00009
NM_025099.6(CTC1):c.*2106G>T rs192934640 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_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_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00008
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=) rs757231662 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 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.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
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.3630C>T (p.His1210=) rs564198378 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.2476-7C>T rs189539795 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631 0.00006
NM_001143992.2(WRAP53):c.1329C>T (p.Asp443=) rs371846554 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.2748C>T (p.Thr916=) rs146662746 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_001363.5(DKC1):c.1036+8G>A rs782446632 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_017838.4(NHP2):c.230+17C>T rs766892858 0.00006
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=) rs113304555 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 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.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.3426C>T (p.Leu1142=) rs745512137 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 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.690C>G (p.Pro230=) rs764260132 0.00004
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 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.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=) rs373347391 0.00004
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=) rs200086502 0.00004
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=) rs377191081 0.00004
NM_001363.5(DKC1):c.1339-5C>T rs781901933 0.00004
NM_001363.5(DKC1):c.263+17G>A rs371006539 0.00004
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp) rs782010351 0.00004
NM_025099.6(CTC1):c.*327C>T rs569217905 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.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.197+13G>A rs377444887 0.00004
NM_025099.6(CTC1):c.2061-6C>T rs370503002 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.2783G>T (p.Cys928Phe) rs373660155 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3514+18G>A rs770137845 0.00004
NM_025099.6(CTC1):c.630C>G (p.Ser210=) rs750601480 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
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.504G>A (p.Gln168=) rs764829839 0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=) rs757222975 0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=) rs776136324 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001363.5(DKC1):c.1305G>A (p.Pro435=) rs189466923 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.336+12G>A rs202050768 0.00003
NM_025099.6(CTC1):c.1078-14C>T rs778409864 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.2049G>A (p.Lys683=) rs1224287906 0.00003
NM_025099.6(CTC1):c.2060+8C>T rs774720707 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 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.24C>T (p.Val8=) rs749818659 0.00003
NM_025099.6(CTC1):c.2670-7C>T rs750034989 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.2799C>A (p.Val933=) rs756487472 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_001099274.3(TINF2):c.1130-10C>T rs762697610 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.1659C>A (p.Pro553=) rs758544821 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_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.1476+20G>A rs782675825 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.160+8G>A rs777793268 0.00002
NM_017838.4(NHP2):c.195A>G (p.Lys65=) rs543057099 0.00002
NM_025099.6(CTC1):c.1398C>G (p.Leu466=) rs777305874 0.00002
NM_025099.6(CTC1):c.1945+8G>A rs746083383 0.00002
NM_025099.6(CTC1):c.198-10C>T rs764516700 0.00002
NM_025099.6(CTC1):c.2476-6G>A rs768967446 0.00002
NM_025099.6(CTC1):c.2683T>C (p.Leu895=) rs764648488 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.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.390C>T (p.Asn130=) rs559790131 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.793-17G>A rs751885616 0.00002
NM_198253.3(TERT):c.1422C>T (p.Pro474=) rs139133620 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.1155C>T (p.Ser385=) rs948013496 0.00001
NM_001099274.3(TINF2):c.1222-5T>G rs763885098 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.1332T>C (p.Cys444=) rs1414894689 0.00001
NM_001099274.3(TINF2):c.141C>T (p.Gly47=) rs1351749746 0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=) rs1374640214 0.00001
NM_001099274.3(TINF2):c.400-4G>A rs1566368389 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.508-19C>T rs750306834 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.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.930G>A (p.Ala310=) rs778877023 0.00001
NM_001143992.2(WRAP53):c.636A>G (p.Ala212=) rs2074083397 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=) rs1177652366 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.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=) rs1331174859 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.3552C>T (p.Phe1184=) rs760713860 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.1281G>A (p.Val427=) rs781964348 0.00001
NM_001363.5(DKC1):c.1455C>T (p.Ser485=) rs782136109 0.00001
NM_001363.5(DKC1):c.1476+13A>G rs781810616 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.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.538T>C (p.Leu180=) rs1557264297 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_017838.4(NHP2):c.160+9G>A rs756638436 0.00001
NM_017838.4(NHP2):c.230+19C>G rs1244247196 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.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=) rs1170351542 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.1242G>A (p.Gly414=) rs778096377 0.00001
NM_025099.6(CTC1):c.12C>G (p.Gly4=) rs758287945 0.00001
NM_025099.6(CTC1):c.1350C>T (p.Ala450=) rs763760200 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.1515A>G (p.Gln505=) rs759341353 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 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.1650C>T (p.Pro550=) rs368449753 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.1794G>A (p.Leu598=) rs1171819624 0.00001
NM_025099.6(CTC1):c.183G>A (p.Leu61=) rs1273538880 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.1980C>T (p.Ile660=) rs929139383 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.2121T>G (p.Leu707=) rs899017902 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.233G>A (p.Arg78His) rs369627256 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.2386-10A>G rs746382653 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.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837 0.00001
NM_025099.6(CTC1):c.2712A>G (p.Ser904=) rs1597376076 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.2759-18C>T rs751836178 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.2934-16C>T rs759449159 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.3156+13A>C rs554186531 0.00001
NM_025099.6(CTC1):c.3156+18C>T rs1987003651 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=) rs779335414 0.00001
NM_025099.6(CTC1):c.3514+14C>T rs551437595 0.00001
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=) rs750119408 0.00001
NM_025099.6(CTC1):c.435+12G>A rs1246653256 0.00001
NM_025099.6(CTC1):c.534C>T (p.His178=) rs1251648065 0.00001
NM_025099.6(CTC1):c.647+12C>G rs750369449 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.786C>T (p.Ile262=) rs781453163 0.00001
NM_025099.6(CTC1):c.918T>C (p.Arg306=) rs770766250 0.00001
NM_025099.6(CTC1):c.99G>A (p.Glu33=) rs201091226 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_001099274.3(TINF2):c.1035T>C (p.Val345=)
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
NM_001099274.3(TINF2):c.1061+14A>G rs1040503982
NM_001099274.3(TINF2):c.1061+8_1061+9del
NM_001099274.3(TINF2):c.1062-14_1062-11del rs2138996774
NM_001099274.3(TINF2):c.1062-19_1062-18del
NM_001099274.3(TINF2):c.1062-4T>G rs769661599
NM_001099274.3(TINF2):c.1130-7C>T
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) rs2040535359
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
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.1222-4A>T rs2138994887
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
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.1281A>G (p.Glu427=) rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
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.240G>A (p.Leu80=)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
NM_001099274.3(TINF2):c.294G>A (p.Lys98=) rs1594555123
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.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.378G>A (p.Val126=)
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.400-5del rs769170035
NM_001099274.3(TINF2):c.400-6C>T
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=) rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
NM_001099274.3(TINF2):c.45C>G (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
NM_001099274.3(TINF2):c.507+13del rs780404631
NM_001099274.3(TINF2):c.507+20T>C
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.525T>C (p.Ser175=)
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
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.605-17C>T
NM_001099274.3(TINF2):c.605-20G>A
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
NM_001099274.3(TINF2):c.747C>T (p.His249=)
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
NM_001099274.3(TINF2):c.837T>C (p.His279=)
NM_001099274.3(TINF2):c.864T>C (p.Phe288=) rs2138998003
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
NM_001099274.3(TINF2):c.984T>C (p.Ser328=) rs751773020
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_001283009.2(RTEL1):c.1302G>A (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1968T>C (p.Val656=) rs757289575
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=) rs1601170877
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=) rs553827008
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=) rs1282351226
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=) rs768689934
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
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.3412C>A (p.Arg1138=) rs6062495
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
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+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.1059G>C (p.Ala353=)
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
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>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.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.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.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.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.1356G>A (p.Glu452=)
NM_001363.5(DKC1):c.1383A>G (p.Ala461=) rs1293654532
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.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.1477-20T>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[9] (p.Lys504_Lys505dup) rs782576893
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+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.219A>G (p.Ala73=)
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
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+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.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.354A>C (p.Thr118=)
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
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.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.540A>G (p.Leu180=) rs781897987
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
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.621C>T (p.Tyr207=)
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.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.753T>A (p.Ser251=)
NM_001363.5(DKC1):c.75A>G (p.Glu25=) rs2148509198
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.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+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.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.939C>T (p.Ala313=)
NM_001363.5(DKC1):c.969T>C (p.Tyr323=) rs2148513634
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
NM_001363.5(DKC1):c.99T>C (p.Ala33=)
NM_017838.4(NHP2):c.132G>A (p.Thr44=) rs764657822
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+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+7C>T
NM_017838.4(NHP2):c.160+9del
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.186C>G (p.Arg62=)
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
NM_017838.4(NHP2):c.213C>G (p.Val71=) rs575702154
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+8C>A rs764940566
NM_017838.4(NHP2):c.231-13TC[2]
NM_017838.4(NHP2):c.231-20dup
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
NM_017838.4(NHP2):c.27C>T (p.Asp9=) rs1178370439
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
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.33C>G (p.Pro11=)
NM_017838.4(NHP2):c.366C>G (p.Arg122=) rs2113463130
NM_017838.4(NHP2):c.378G>A (p.Val126=) rs1756216301
NM_017838.4(NHP2):c.447G>A (p.Leu149=) rs754228756
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
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.*1103C>A rs75272219
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1129A>G rs370571497
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.*3255G>C rs8072663
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
NM_025099.6(CTC1):c.1066C>T (p.Leu356=) rs1244119231
NM_025099.6(CTC1):c.1078-4G>A rs375114652
NM_025099.6(CTC1):c.1078-4G>T rs375114652
NM_025099.6(CTC1):c.1078-8G>A
NM_025099.6(CTC1):c.108C>T (p.Val36=) rs2151546050
NM_025099.6(CTC1):c.1135C>T (p.Leu379=) rs1597385203
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
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.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.1281C>A (p.Gly427=) rs754774538
NM_025099.6(CTC1):c.12C>T (p.Gly4=)
NM_025099.6(CTC1):c.1320G>T (p.Gly440=) rs2151519856
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
NM_025099.6(CTC1):c.1332C>G (p.Ser444=) rs1987600121
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.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.1440-20_1440-19del rs1332067370
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
NM_025099.6(CTC1):c.147C>G (p.Val49=)
NM_025099.6(CTC1):c.1494G>A (p.Gly498=) rs750860792
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.1557C>T (p.Ser519=)
NM_025099.6(CTC1):c.1564C>A (p.Arg522=) rs199698527
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
NM_025099.6(CTC1):c.1593G>A (p.Glu531=) rs1407136775
NM_025099.6(CTC1):c.15G>C (p.Arg5=) rs1252023203
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+7G>C
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.1626G>A (p.Arg542=)
NM_025099.6(CTC1):c.1638C>T (p.Pro546=) rs2151517678
NM_025099.6(CTC1):c.165G>A (p.Arg55=) rs2151545845
NM_025099.6(CTC1):c.1683T>G (p.Arg561=) rs1285328109
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
NM_025099.6(CTC1):c.1719G>C (p.Leu573=) rs1282827614
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
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.1815C>T (p.Ala605=)
NM_025099.6(CTC1):c.1818+17C>T
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.1845A>G (p.Ser615=)
NM_025099.6(CTC1):c.1857T>C (p.Gly619=) rs2151512859
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.1923C>T (p.Pro641=) rs1432613856
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
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.1946-17A>G
NM_025099.6(CTC1):c.1946-4C>T
NM_025099.6(CTC1):c.1956G>A (p.Val652=) rs2151511215
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.1989G>A (p.Arg663=)
NM_025099.6(CTC1):c.1992C>T (p.Asp664=) rs755004377
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
NM_025099.6(CTC1):c.201C>T (p.Phe67=) rs552540195
NM_025099.6(CTC1):c.2037C>T (p.Gly679=) rs2151510889
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+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.2097C>T (p.Ile699=)
NM_025099.6(CTC1):c.210A>G (p.Val70=)
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
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.2235T>C (p.Asn745=) rs2151509581
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.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
NM_025099.6(CTC1):c.2337T>C (p.Thr779=) rs1567603423
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
NM_025099.6(CTC1):c.237C>G (p.Leu79=) rs2151532137
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
NM_025099.6(CTC1):c.2386-16C>T
NM_025099.6(CTC1):c.2386-16del
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.2409T>C (p.Ser803=) rs1987252367
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
NM_025099.6(CTC1):c.2466T>C (p.Pro822=) rs2151508201
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2475+20A>G
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.24C>A (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
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.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.2631A>G (p.Ser877=) rs1335870783
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.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.273A>G (p.Ala91=)
NM_025099.6(CTC1):c.2742T>C (p.Ser914=) rs1248489024
NM_025099.6(CTC1):c.2758+11T>C
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.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.2811T>G (p.Thr937=)
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
NM_025099.6(CTC1):c.2933+18C>T
NM_025099.6(CTC1):c.2933+8T>C rs1160513274
NM_025099.6(CTC1):c.2933+9G>A
NM_025099.6(CTC1):c.3011+19A>G
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.3012-5_3012-2del rs2151500920
NM_025099.6(CTC1):c.3012-7T>C
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=) rs1310614752
NM_025099.6(CTC1):c.3156+10G>A
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.3157-7A>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.3192G>A (p.Thr1064=)
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.3222-10C>G
NM_025099.6(CTC1):c.3222-10C>T
NM_025099.6(CTC1):c.3231G>A (p.Val1077=) rs2151499073
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
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+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.3303T>C (p.Pro1101=)
NM_025099.6(CTC1):c.3387+9T>C rs2151498469
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.34-6C>T
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
NM_025099.6(CTC1):c.3468G>T (p.Val1156=) rs1213104518
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=) rs952574848
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=) rs369209127
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+7T>C
NM_025099.6(CTC1):c.3514+8T>G
NM_025099.6(CTC1):c.3515-19T>C rs2151497033
NM_025099.6(CTC1):c.3515-8C>T
NM_025099.6(CTC1):c.3515-8del rs2151496968
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.3576C>G (p.Pro1192=) rs2151496784
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.360A>G (p.Leu120=) rs201957649
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
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.36A>G (p.Glu12=)
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.435+9A>C
NM_025099.6(CTC1):c.436-17C>G
NM_025099.6(CTC1):c.438C>A (p.Leu146=) rs922605347
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
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+18G>A rs373103137
NM_025099.6(CTC1):c.647+8C>T rs2151530046
NM_025099.6(CTC1):c.648-8C>T rs2151527978
NM_025099.6(CTC1):c.697T>C (p.Leu233=) rs775207921
NM_025099.6(CTC1):c.711G>A (p.Val237=) rs1196630450
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.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.805C>T (p.Leu269=) rs898388984
NM_025099.6(CTC1):c.810G>A (p.Val270=)
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
NM_025099.6(CTC1):c.849G>C (p.Leu283=) rs2151523972
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
NM_025099.6(CTC1):c.979T>C (p.Leu327=) rs1987705280
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2590C>T (p.Leu864=) rs777358007
NM_198253.3(TERT):c.702G>A (p.Leu234=) rs754359147

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