ClinVar Miner

List of variants in gene RTEL1, RTEL1-TNFRSF6B studied for pulmonary fibrosis and/or bone marrow failure, telomere-related

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2899
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.538+160A>T rs6010998 0.81932
NM_001283009.2(RTEL1):c.395+164T>C rs2297433 0.81920
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.1349-135G>C rs6062490 0.81468
NM_001283009.2(RTEL1):c.1596-28T>C rs2738785 0.81463
NM_001283009.2(RTEL1):c.1038-104G>A rs2297438 0.80871
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_001283009.2(RTEL1):c.477+35C>T rs2297434 0.45720
NM_001283009.2(RTEL1):c.700-115G>A rs6062300 0.44984
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_001283009.2(RTEL1):c.1636+29C>G rs2777940 0.14402
NM_001283009.2(RTEL1):c.3499+5G>T rs41309931 0.10067
NM_001283009.2(RTEL1):c.582T>C (p.Ile194=) rs73920935 0.08708
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=) rs61753459 0.06433
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=) rs1056990 0.06020
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_001283009.2(RTEL1):c.1482-6G>A rs76364377 0.04646
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_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01644
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00947
NM_001283009.2(RTEL1):c.103-6G>A rs57695352 0.00707
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_001283009.2(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693 0.00581
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_001283009.2(RTEL1):c.1800+14C>T rs150377952 0.00456
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
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_001283009.2(RTEL1):c.3110-17T>C rs192060579 0.00373
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.1349-17C>T rs58559263 0.00324
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001283009.2(RTEL1):c.2653-18C>T rs185974219 0.00217
NM_001283009.2(RTEL1):c.2414-6C>T rs376868750 0.00214
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
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_001283009.2(RTEL1):c.2661C>T (p.Pro887=) rs3848671 0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=) rs138074015 0.00128
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_001283009.2(RTEL1):c.395+12G>A rs201572070 0.00106
NM_001283009.2(RTEL1):c.1481+18C>T rs144022543 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_001283009.2(RTEL1):c.762C>T (p.Asn254=) rs150877719 0.00090
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_001283009.2(RTEL1):c.2787C>T (p.Ala929=) rs115030322 0.00081
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=) rs141618172 0.00074
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_001283009.2(RTEL1):c.1595+19G>A rs202032186 0.00067
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
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_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001283009.2(RTEL1):c.2349C>T (p.Phe783=) rs200068703 0.00049
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_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_001283009.2(RTEL1):c.2413+15C>T rs376389450 0.00044
NM_001283009.2(RTEL1):c.959-10C>T rs202035834 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_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_001283009.2(RTEL1):c.3109+11C>T rs369098224 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_001283009.2(RTEL1):c.2852-17C>T rs200335181 0.00039
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2325C>T (p.Ser775=) rs138950475 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_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_001283009.2(RTEL1):c.1267-17G>A rs558289937 0.00031
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_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 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_001283009.2(RTEL1):c.2992+11C>T rs200228490 0.00028
NM_001283009.2(RTEL1):c.3900G>T (p.Gln1300His) rs374244090 0.00028
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.2556+20G>A rs183461089 0.00025
NM_001283009.2(RTEL1):c.3822+8C>T rs373109673 0.00025
NM_001283009.2(RTEL1):c.3000G>A (p.Thr1000=) rs139384702 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_001283009.2(RTEL1):c.1595+9C>T rs370145267 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 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_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00020
NM_001283009.2(RTEL1):c.919+17A>G rs764198775 0.00020
NM_001283009.2(RTEL1):c.1038-15T>C rs200181490 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
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_001283009.2(RTEL1):c.396-18G>A rs200598131 0.00019
NM_001283009.2(RTEL1):c.1136-18C>T rs377380761 0.00018
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=) rs764719355 0.00018
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001283009.2(RTEL1):c.1800+15G>A rs371760783 0.00016
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=) rs140738232 0.00016
NM_001283009.2(RTEL1):c.2265+13C>G rs369694643 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_001283009.2(RTEL1):c.3174C>T (p.His1058=) rs146247083 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_001283009.2(RTEL1):c.1596-9C>T rs200803729 0.00014
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=) rs141229183 0.00014
NM_001283009.2(RTEL1):c.2026-20C>T rs369387432 0.00014
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2414-15C>T rs369129770 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_001283009.2(RTEL1):c.1806C>T (p.Ile602=) rs202119059 0.00012
NM_001283009.2(RTEL1):c.1879-16C>A rs373555734 0.00012
NM_001283009.2(RTEL1):c.2026-19G>A rs373125587 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_001283009.2(RTEL1):c.1348+20C>T rs375760002 0.00011
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2851+20C>A rs747329908 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_001283009.2(RTEL1):c.891G>A (p.Pro297=) rs771117146 0.00011
NM_001283009.2(RTEL1):c.2358C>T (p.Thr786=) rs202106904 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.477+10T>C rs767872427 0.00010
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001283009.2(RTEL1):c.1135+15G>A rs533420625 0.00009
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=) rs141241780 0.00009
NM_001283009.2(RTEL1):c.1357C>T (p.Leu453=) rs1451923572 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.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 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_001283009.2(RTEL1):c.393C>T (p.Tyr131=) rs1026158211 0.00009
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.2877C>A (p.His959Gln) rs373996455 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_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro) rs537151019 0.00007
NM_001283009.2(RTEL1):c.1437C>T (p.Ser479=) rs140055045 0.00007
NM_001283009.2(RTEL1):c.1722+3G>A rs200599544 0.00007
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=) rs370202708 0.00007
NM_001283009.2(RTEL1):c.3343+16G>A rs370395788 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_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.1380C>T (p.Pro460=) rs760887663 0.00006
NM_001283009.2(RTEL1):c.1800+8C>T rs765664650 0.00006
NM_001283009.2(RTEL1):c.1851C>T (p.Ala617=) rs748314839 0.00006
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.2025+8dup rs760972646 0.00006
NM_001283009.2(RTEL1):c.2157C>T (p.Asp719=) rs752607917 0.00006
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00006
NM_001283009.2(RTEL1):c.2413+8C>T rs758975241 0.00006
NM_001283009.2(RTEL1):c.2535G>A (p.Ala845=) rs751482700 0.00006
NM_001283009.2(RTEL1):c.2548G>A (p.Glu850Lys) rs757613157 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.3003G>A (p.Ala1001=) rs368070468 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.3508C>T (p.Arg1170Trp) rs773894104 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_001283009.2(RTEL1):c.3540G>A (p.Lys1180=) rs372877885 0.00006
NM_001283009.2(RTEL1):c.3753C>T (p.Asp1251=) rs756080962 0.00006
NM_001283009.2(RTEL1):c.705C>T (p.Arg235=) rs758562350 0.00006
NM_001283009.2(RTEL1):c.102+10A>G rs201569343 0.00005
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys) rs201938707 0.00005
NM_001283009.2(RTEL1):c.1191+6G>T rs760073413 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.1879-4C>T rs753381436 0.00005
NM_001283009.2(RTEL1):c.2025+10A>T rs770832240 0.00005
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=) rs546705390 0.00005
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.2280C>T (p.Ala760=) rs765015936 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.2318C>G (p.Ala773Gly) rs746270116 0.00005
NM_001283009.2(RTEL1):c.2413+9G>A rs980022075 0.00005
NM_001283009.2(RTEL1):c.2637G>A (p.Arg879=) rs1338282928 0.00005
NM_001283009.2(RTEL1):c.2653-17G>A rs199597161 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.3110-19C>T rs765873434 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.3277G>A (p.Asp1093Asn) rs767674666 0.00005
NM_001283009.2(RTEL1):c.3344-4G>A rs367703929 0.00005
NM_001283009.2(RTEL1):c.3462C>T (p.Ala1154=) rs113188571 0.00005
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys) rs771457769 0.00005
NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr) rs201237264 0.00005
NM_001283009.2(RTEL1):c.3771C>T (p.Cys1257=) rs368539067 0.00005
NM_001283009.2(RTEL1):c.3823-14C>T rs536966266 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001283009.2(RTEL1):c.738C>T (p.Val246=) rs569303047 0.00005
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.1038-6C>T rs776111372 0.00004
NM_001283009.2(RTEL1):c.1135+14C>T rs780834418 0.00004
NM_001283009.2(RTEL1):c.1140T>C (p.Ala380=) rs1320301703 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.1267-9C>T rs755986498 0.00004
NM_001283009.2(RTEL1):c.1443G>A (p.Thr481=) rs762716598 0.00004
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=) rs114124243 0.00004
NM_001283009.2(RTEL1):c.1500G>A (p.Leu500=) rs1229562658 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.1636+15T>C rs368333990 0.00004
NM_001283009.2(RTEL1):c.171G>T (p.Leu57=) rs769885188 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.2061G>A (p.Ala687=) rs201842671 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=) rs774642602 0.00004
NM_001283009.2(RTEL1):c.2142-15A>G rs762029946 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.2414-20G>A rs376268681 0.00004
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=) rs767770069 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.2553G>A (p.Glu851=) rs779115892 0.00004
NM_001283009.2(RTEL1):c.2556+14G>A rs1176602345 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2851+13G>A rs368058305 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.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3109+10T>C rs759931400 0.00004
NM_001283009.2(RTEL1):c.3177C>T (p.Ala1059=) rs539800902 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.3409G>A (p.Gly1137Ser) rs202193792 0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu) rs749331637 0.00004
NM_001283009.2(RTEL1):c.3479C>T (p.Thr1160Ile) rs754781364 0.00004
NM_001283009.2(RTEL1):c.3513C>T (p.Ser1171=) rs138738109 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.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_001283009.2(RTEL1):c.3840A>G (p.Pro1280=) rs759916800 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.666A>G (p.Ile222Met) rs373656372 0.00004
NM_001283009.2(RTEL1):c.750C>T (p.Asp250=) rs777405867 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.954G>A (p.Leu318=) rs780262316 0.00004
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=) rs763882822 0.00004
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn) rs753838163 0.00004
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.1038-18C>T rs1555903293 0.00003
NM_001283009.2(RTEL1):c.1188C>A (p.Ile396=) rs766857757 0.00003
NM_001283009.2(RTEL1):c.1215C>T (p.Ser405=) rs368407107 0.00003
NM_001283009.2(RTEL1):c.1225C>G (p.Pro409Ala) rs371603433 0.00003
NM_001283009.2(RTEL1):c.1236A>G (p.Pro412=) rs914576910 0.00003
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp) rs748434559 0.00003
NM_001283009.2(RTEL1):c.1407C>G (p.Arg469=) rs1466628519 0.00003
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=) rs201307924 0.00003
NM_001283009.2(RTEL1):c.1482-13T>C rs201072205 0.00003
NM_001283009.2(RTEL1):c.1545C>T (p.Val515=) rs777040365 0.00003
NM_001283009.2(RTEL1):c.1637-18C>T rs774306865 0.00003
NM_001283009.2(RTEL1):c.168G>A (p.Thr56=) rs776722400 0.00003
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln) rs753779060 0.00003
NM_001283009.2(RTEL1):c.1908G>A (p.Thr636=) rs779437642 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2026-15C>T rs767991978 0.00003
NM_001283009.2(RTEL1):c.2145C>T (p.Phe715=) rs762607146 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2343C>T (p.Gly781=) rs766185797 0.00003
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=) rs371353556 0.00003
NM_001283009.2(RTEL1):c.2692C>T (p.Leu898Phe) rs555482478 0.00003
NM_001283009.2(RTEL1):c.2782T>G (p.Phe928Val) rs953069213 0.00003
NM_001283009.2(RTEL1):c.2851+9G>C rs778092060 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.3109+19G>A rs369417111 0.00003
NM_001283009.2(RTEL1):c.3109+9C>T rs376840588 0.00003
NM_001283009.2(RTEL1):c.3219C>T (p.Ser1073=) rs376151757 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3503C>T (p.Pro1168Leu) rs376829126 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3549C>T (p.Ser1183=) rs775274392 0.00003
NM_001283009.2(RTEL1):c.3588C>T (p.Gly1196=) rs757618919 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.3849C>T (p.His1283=) rs772636396 0.00003
NM_001283009.2(RTEL1):c.3852C>T (p.Thr1284=) rs149236681 0.00003
NM_001283009.2(RTEL1):c.3885C>T (p.Phe1295=) rs756251493 0.00003
NM_001283009.2(RTEL1):c.396-12C>G rs749705949 0.00003
NM_001283009.2(RTEL1):c.396-19C>T rs767850154 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.462G>A (p.Glu154=) rs766637626 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.709G>A (p.Ala237Thr) rs1023502136 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_001283009.2(RTEL1):c.901G>A (p.Ala301Thr) rs201365106 0.00003
NM_001283009.2(RTEL1):c.103-7C>T rs746078784 0.00002
NM_001283009.2(RTEL1):c.1032A>G (p.Pro344=) rs771559773 0.00002
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys) rs866955014 0.00002
NM_001283009.2(RTEL1):c.1266+15C>T rs749890574 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 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.1413C>T (p.Gly471=) rs373058034 0.00002
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657 0.00002
NM_001283009.2(RTEL1):c.1603G>A (p.Glu535Lys) rs1367858373 0.00002
NM_001283009.2(RTEL1):c.1636+10C>T rs915525803 0.00002
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=) rs758544821 0.00002
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys) rs1046172136 0.00002
NM_001283009.2(RTEL1):c.1722+11C>T rs996447070 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.1800+3C>T rs764757029 0.00002
NM_001283009.2(RTEL1):c.1845C>T (p.Thr615=) rs747169885 0.00002
NM_001283009.2(RTEL1):c.1896C>T (p.Asp632=) rs201130278 0.00002
NM_001283009.2(RTEL1):c.1948C>T (p.Pro650Ser) rs768489017 0.00002
NM_001283009.2(RTEL1):c.1951C>T (p.Arg651Cys) rs765231471 0.00002
NM_001283009.2(RTEL1):c.1971C>T (p.Val657=) rs778883996 0.00002
NM_001283009.2(RTEL1):c.2115C>T (p.Tyr705=) rs756940973 0.00002
NM_001283009.2(RTEL1):c.2141+12C>T rs768285604 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2154C>T (p.Ala718=) rs149899386 0.00002
NM_001283009.2(RTEL1):c.219C>T (p.Ala73=) rs781340943 0.00002
NM_001283009.2(RTEL1):c.2413+5G>A rs750836127 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 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.2557-14T>C rs767407237 0.00002
NM_001283009.2(RTEL1):c.2559C>T (p.Ala853=) rs758448983 0.00002
NM_001283009.2(RTEL1):c.2601G>A (p.Pro867=) rs201545339 0.00002
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val) rs376204071 0.00002
NM_001283009.2(RTEL1):c.2652+10C>T rs200550037 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.2679G>A (p.Thr893=) rs754389601 0.00002
NM_001283009.2(RTEL1):c.2753C>T (p.Ala918Val) rs1234595238 0.00002
NM_001283009.2(RTEL1):c.2811C>T (p.Pro937=) rs1181105745 0.00002
NM_001283009.2(RTEL1):c.2852-15C>T rs756533094 0.00002
NM_001283009.2(RTEL1):c.2988C>T (p.Pro996=) rs150932919 0.00002
NM_001283009.2(RTEL1):c.2993-14C>A rs764487111 0.00002
NM_001283009.2(RTEL1):c.3002C>T (p.Ala1001Val) rs150072861 0.00002
NM_001283009.2(RTEL1):c.3018G>T (p.Leu1006=) rs374853062 0.00002
NM_001283009.2(RTEL1):c.3030G>A (p.Thr1010=) rs6011036 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.30C>T (p.Thr10=) rs746437645 0.00002
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=) rs201356718 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.3270C>T (p.Asp1090=) rs115613958 0.00002
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=) rs530713870 0.00002
NM_001283009.2(RTEL1):c.3344-16T>C rs763563694 0.00002
NM_001283009.2(RTEL1):c.3345G>A (p.Arg1115=) rs752407024 0.00002
NM_001283009.2(RTEL1):c.3408C>T (p.Thr1136=) rs752386852 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.3701C>T (p.Pro1234Leu) rs537878959 0.00002
NM_001283009.2(RTEL1):c.3708G>A (p.Gly1236=) rs754318726 0.00002
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe) rs765763485 0.00002
NM_001283009.2(RTEL1):c.3729G>T (p.Val1243=) rs370084961 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.3855C>T (p.Ala1285=) rs763834904 0.00002
NM_001283009.2(RTEL1):c.477+8C>T rs756624959 0.00002
NM_001283009.2(RTEL1):c.51C>T (p.Pro17=) rs769888088 0.00002
NM_001283009.2(RTEL1):c.765+11G>A rs771956401 0.00002
NM_001283009.2(RTEL1):c.765+14G>T rs775345695 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.831C>T (p.Asp277=) rs768009058 0.00002
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu) rs748022323 0.00002
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr) rs779282812 0.00002
NM_001283009.2(RTEL1):c.920-9C>T rs910613998 0.00002
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn) rs758615955 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001283009.2(RTEL1):c.1000C>T (p.Leu334=) rs2090399178 0.00001
NM_001283009.2(RTEL1):c.1011C>T (p.Asp337=) rs755186853 0.00001
NM_001283009.2(RTEL1):c.102+16C>G rs765782315 0.00001
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.1059T>C (p.Ala353=) rs774062676 0.00001
NM_001283009.2(RTEL1):c.105G>A (p.Lys35=) rs894771414 0.00001
NM_001283009.2(RTEL1):c.1103C>T (p.Ser368Leu) rs765792997 0.00001
NM_001283009.2(RTEL1):c.1104G>A (p.Ser368=) rs751001291 0.00001
NM_001283009.2(RTEL1):c.114C>A (p.Gly38=) rs1200738721 0.00001
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met) rs371141081 0.00001
NM_001283009.2(RTEL1):c.1179G>A (p.Ala393=) rs773272719 0.00001
NM_001283009.2(RTEL1):c.1183A>G (p.Ile395Val) rs1355147182 0.00001
NM_001283009.2(RTEL1):c.118C>T (p.Leu40=) rs766794455 0.00001
NM_001283009.2(RTEL1):c.1191+8C>G rs767844458 0.00001
NM_001283009.2(RTEL1):c.1192-7C>G rs1436664421 0.00001
NM_001283009.2(RTEL1):c.1209C>T (p.Asp403=) rs781077567 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1251C>T (p.Ala417=) rs776000925 0.00001
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 0.00001
NM_001283009.2(RTEL1):c.1267-11G>T rs368818852 0.00001
NM_001283009.2(RTEL1):c.1272C>T (p.His424=) rs750602767 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.1331C>G (p.Thr444Ser) rs763825991 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.1349-10C>T rs769533263 0.00001
NM_001283009.2(RTEL1):c.1349-12C>G rs1210407904 0.00001
NM_001283009.2(RTEL1):c.1349-16G>A rs768564368 0.00001
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1414G>A (p.Val472Ile) rs941024707 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.1482-18C>T rs766676603 0.00001
NM_001283009.2(RTEL1):c.1494C>T (p.Val498=) rs777373768 0.00001
NM_001283009.2(RTEL1):c.1506C>T (p.Asn502=) rs749132537 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1524G>A (p.Lys508=) rs2090635182 0.00001
NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile) rs748223349 0.00001
NM_001283009.2(RTEL1):c.1560C>T (p.Pro520=) rs766940725 0.00001
NM_001283009.2(RTEL1):c.1569C>A (p.Ala523=) rs1601163315 0.00001
NM_001283009.2(RTEL1):c.1595+7G>A rs1464373152 0.00001
NM_001283009.2(RTEL1):c.1596-4C>T rs778986068 0.00001
NM_001283009.2(RTEL1):c.1596-5T>C rs1367203448 0.00001
NM_001283009.2(RTEL1):c.1596-6C>T rs770960415 0.00001
NM_001283009.2(RTEL1):c.1637-4C>T rs759414555 0.00001
NM_001283009.2(RTEL1):c.1637-9C>T rs2090642322 0.00001
NM_001283009.2(RTEL1):c.1641C>T (p.Asn547=) rs144371814 0.00001
NM_001283009.2(RTEL1):c.1644C>T (p.Ile548=) rs916261853 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.1650C>T (p.Arg550=) rs147825631 0.00001
NM_001283009.2(RTEL1):c.1677C>T (p.Phe559=) rs374168761 0.00001
NM_001283009.2(RTEL1):c.1689T>C (p.Tyr563=) rs1487068301 0.00001
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu) rs1189892333 0.00001
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp) rs1601164606 0.00001
NM_001283009.2(RTEL1):c.1722+9C>G rs1344464320 0.00001
NM_001283009.2(RTEL1):c.1742A>G (p.Lys581Arg) rs376161950 0.00001
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val) rs779562019 0.00001
NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly) rs774400247 0.00001
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=) rs1177652366 0.00001
NM_001283009.2(RTEL1):c.1797C>T (p.Ser599=) rs775716486 0.00001
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln) rs763415620 0.00001
NM_001283009.2(RTEL1):c.1800+7A>G rs1477588250 0.00001
NM_001283009.2(RTEL1):c.1801-15C>T rs766762905 0.00001
NM_001283009.2(RTEL1):c.1824G>A (p.Arg608=) rs1389028462 0.00001
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=) rs757075776 0.00001
NM_001283009.2(RTEL1):c.1862C>T (p.Ala621Val) rs535749230 0.00001
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=) rs1405032353 0.00001
NM_001283009.2(RTEL1):c.1875C>G (p.Gly625=) rs1479553590 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.1879-10T>C rs1337076899 0.00001
NM_001283009.2(RTEL1):c.1879-6C>T rs2090674485 0.00001
NM_001283009.2(RTEL1):c.1887G>A (p.Glu629=) rs1452035267 0.00001
NM_001283009.2(RTEL1):c.1905C>T (p.Asp635=) rs1204270300 0.00001
NM_001283009.2(RTEL1):c.1906A>G (p.Thr636Ala) rs749428089 0.00001
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met) rs200847054 0.00001
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln) rs146544609 0.00001
NM_001283009.2(RTEL1):c.1931C>T (p.Thr644Met) rs1258123825 0.00001
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe) rs1323023332 0.00001
NM_001283009.2(RTEL1):c.1941G>A (p.Pro647=) rs149374241 0.00001
NM_001283009.2(RTEL1):c.1950A>G (p.Pro650=) rs761454817 0.00001
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu) rs773159241 0.00001
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2023C>A (p.Gln675Lys) rs772605324 0.00001
NM_001283009.2(RTEL1):c.2025+16G>A rs1291271552 0.00001
NM_001283009.2(RTEL1):c.2026-10C>T rs777334485 0.00001
NM_001283009.2(RTEL1):c.2026-7C>T rs1447966947 0.00001
NM_001283009.2(RTEL1):c.2058G>A (p.Gln686=) rs746824222 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu) rs1176364985 0.00001
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp) rs1003156687 0.00001
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His) rs1035926074 0.00001
NM_001283009.2(RTEL1):c.2109G>A (p.Gln703=) rs764545169 0.00001
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys) rs2090684972 0.00001
NM_001283009.2(RTEL1):c.2127C>T (p.Phe709=) rs866837044 0.00001
NM_001283009.2(RTEL1):c.213G>A (p.Lys71=) rs910392571 0.00001
NM_001283009.2(RTEL1):c.2140A>G (p.Arg714Gly) rs1156625021 0.00001
NM_001283009.2(RTEL1):c.2141+20A>C rs749402415 0.00001
NM_001283009.2(RTEL1):c.2141+4C>T rs780002400 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.2142-4C>T rs762201678 0.00001
NM_001283009.2(RTEL1):c.2142-5C>T rs776835831 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.2170C>T (p.Leu724=) rs779981404 0.00001
NM_001283009.2(RTEL1):c.2172G>A (p.Leu724=) rs747160558 0.00001
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser) rs774311444 0.00001
NM_001283009.2(RTEL1):c.2190C>T (p.Pro730=) rs144933599 0.00001
NM_001283009.2(RTEL1):c.2193C>T (p.His731=) rs762588751 0.00001
NM_001283009.2(RTEL1):c.2196C>T (p.Val732=) rs1315335415 0.00001
NM_001283009.2(RTEL1):c.2223C>T (p.Val741=) rs752626736 0.00001
NM_001283009.2(RTEL1):c.2244C>T (p.Phe748=) rs753746592 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2265+7T>G rs749693982 0.00001
NM_001283009.2(RTEL1):c.2265+8C>T rs771232929 0.00001
NM_001283009.2(RTEL1):c.2266-16C>T rs749817356 0.00001
NM_001283009.2(RTEL1):c.2266-3C>T rs200536844 0.00001
NM_001283009.2(RTEL1):c.2277G>A (p.Pro759=) rs768310963 0.00001
NM_001283009.2(RTEL1):c.2297C>A (p.Pro766His) rs2090705111 0.00001
NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg) rs771462323 0.00001
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu) rs761805038 0.00001
NM_001283009.2(RTEL1):c.2346C>G (p.Pro782=) rs753928264 0.00001
NM_001283009.2(RTEL1):c.2385T>C (p.His795=) rs770647834 0.00001
NM_001283009.2(RTEL1):c.2403G>A (p.Gln801=) rs1219370345 0.00001
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2409C>T (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2413+16G>A rs542801049 0.00001
NM_001283009.2(RTEL1):c.2414-10G>A rs372875118 0.00001
NM_001283009.2(RTEL1):c.2414-17C>G rs779901019 0.00001
NM_001283009.2(RTEL1):c.2414-9C>T rs763164910 0.00001
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala) rs756711633 0.00001
NM_001283009.2(RTEL1):c.2457G>A (p.Glu819=) rs1199472391 0.00001
NM_001283009.2(RTEL1):c.2460T>C (p.Tyr820=) rs779697253 0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.2500C>T (p.Leu834=) rs375507524 0.00001
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091 0.00001
NM_001283009.2(RTEL1):c.2556+12G>A rs1432376954 0.00001
NM_001283009.2(RTEL1):c.2557-6C>T rs1222249904 0.00001
NM_001283009.2(RTEL1):c.2557-8C>G rs200385247 0.00001
NM_001283009.2(RTEL1):c.2557-9C>T rs1233346985 0.00001
NM_001283009.2(RTEL1):c.2562C>T (p.His854=) rs202018259 0.00001
NM_001283009.2(RTEL1):c.2567G>C (p.Cys856Ser) rs1398820483 0.00001
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp) rs1465417616 0.00001
NM_001283009.2(RTEL1):c.2580C>T (p.Ser860=) rs762526856 0.00001
NM_001283009.2(RTEL1):c.2590G>A (p.Glu864Lys) rs369777001 0.00001
NM_001283009.2(RTEL1):c.2613G>A (p.Pro871=) rs758611174 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.2620G>A (p.Gly874Arg) rs781632993 0.00001
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp) rs142877871 0.00001
NM_001283009.2(RTEL1):c.2640G>C (p.Leu880=) rs147439049 0.00001
NM_001283009.2(RTEL1):c.264C>T (p.Ser88=) rs1303682681 0.00001
NM_001283009.2(RTEL1):c.2655G>A (p.Glu885=) rs979303111 0.00001
NM_001283009.2(RTEL1):c.2669G>A (p.Gly890Asp) rs1243516442 0.00001
NM_001283009.2(RTEL1):c.2672C>T (p.Ala891Val) rs761295679 0.00001
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly) rs1394884130 0.00001
NM_001283009.2(RTEL1):c.2728G>C (p.Ala910Pro) rs751106916 0.00001
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His) rs754727644 0.00001
NM_001283009.2(RTEL1):c.2733C>A (p.Asn911Lys) rs372027131 0.00001
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu) rs755652402 0.00001
NM_001283009.2(RTEL1):c.2763C>T (p.Asp921=) rs768967715 0.00001
NM_001283009.2(RTEL1):c.2769G>A (p.Lys923=) rs2090788815 0.00001
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn) rs369357121 0.00001
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr) rs371721039 0.00001
NM_001283009.2(RTEL1):c.2789C>T (p.Ala930Val) rs745711145 0.00001
NM_001283009.2(RTEL1):c.2798C>T (p.Ala933Val) rs541761600 0.00001
NM_001283009.2(RTEL1):c.2801G>T (p.Cys934Phe) rs1263651818 0.00001
NM_001283009.2(RTEL1):c.2808C>A (p.Gly936=) rs774750824 0.00001
NM_001283009.2(RTEL1):c.282T>C (p.Ala94=) rs1339759498 0.00001
NM_001283009.2(RTEL1):c.2835G>A (p.Lys945=) rs750680332 0.00001
NM_001283009.2(RTEL1):c.2838C>T (p.His946=) rs756249274 0.00001
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val) rs750311914 0.00001
NM_001283009.2(RTEL1):c.2852-4A>G rs1456085879 0.00001
NM_001283009.2(RTEL1):c.2852-7T>C rs1332732473 0.00001
NM_001283009.2(RTEL1):c.2852-9C>T rs375886371 0.00001
NM_001283009.2(RTEL1):c.2852G>T (p.Gly951Val) rs925928624 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.2868G>A (p.Val956=) rs766435400 0.00001
NM_001283009.2(RTEL1):c.2870G>A (p.Arg957Gln) rs753270617 0.00001
NM_001283009.2(RTEL1):c.2883G>A (p.Lys961=) rs1333357013 0.00001
NM_001283009.2(RTEL1):c.2901C>G (p.Val967=) rs1437204344 0.00001
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=) rs2090805113 0.00001
NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=) rs767648957 0.00001
NM_001283009.2(RTEL1):c.2923G>C (p.Gly975Arg) rs754293748 0.00001
NM_001283009.2(RTEL1):c.2937G>A (p.Arg979=) rs768689934 0.00001
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg) rs1340326956 0.00001
NM_001283009.2(RTEL1):c.2961G>A (p.Arg987=) rs765696960 0.00001
NM_001283009.2(RTEL1):c.2963A>G (p.Gln988Arg) rs1357930914 0.00001
NM_001283009.2(RTEL1):c.2970A>C (p.Ala990=) rs930148195 0.00001
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=) rs116365288 0.00001
NM_001283009.2(RTEL1):c.2992+10G>A rs756091219 0.00001
NM_001283009.2(RTEL1):c.2992+9G>C rs752627580 0.00001
NM_001283009.2(RTEL1):c.2993-6C>T rs1221404939 0.00001
NM_001283009.2(RTEL1):c.2993-8T>C rs1198061000 0.00001
NM_001283009.2(RTEL1):c.2993-9C>T rs1345171159 0.00001
NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile) rs751168157 0.00001
NM_001283009.2(RTEL1):c.301+15C>T rs532341610 0.00001
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=) rs1331174859 0.00001
NM_001283009.2(RTEL1):c.3021C>T (p.Thr1007=) rs762149661 0.00001
NM_001283009.2(RTEL1):c.3026C>T (p.Ser1009Phe) rs1026729377 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.3051C>T (p.Asp1017=) rs748756306 0.00001
NM_001283009.2(RTEL1):c.3073G>A (p.Gly1025Ser) rs1483445218 0.00001
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=) rs148099608 0.00001
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr) rs1368646805 0.00001
NM_001283009.2(RTEL1):c.3084C>T (p.His1028=) rs562364488 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.3094A>C (p.Arg1032=) rs1227777952 0.00001
NM_001283009.2(RTEL1):c.3110-4C>G rs1417877726 0.00001
NM_001283009.2(RTEL1):c.3115C>T (p.Pro1039Ser) rs976592801 0.00001
NM_001283009.2(RTEL1):c.3120C>T (p.Gly1040=) rs41298346 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.3154G>A (p.Ala1052Thr) rs1266676069 0.00001
NM_001283009.2(RTEL1):c.3157G>C (p.Gly1053Arg) rs1321802859 0.00001
NM_001283009.2(RTEL1):c.3183C>T (p.Ser1061=) rs573260461 0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr) rs773397014 0.00001
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val) rs373448481 0.00001
NM_001283009.2(RTEL1):c.3196G>A (p.Asp1066Asn) rs748671796 0.00001
NM_001283009.2(RTEL1):c.3201C>T (p.Ala1067=) rs773498759 0.00001
NM_001283009.2(RTEL1):c.3213G>A (p.Leu1071=) rs1209413497 0.00001
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr) rs780364760 0.00001
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr) rs781481182 0.00001
NM_001283009.2(RTEL1):c.3237C>T (p.Leu1079=) rs1362593763 0.00001
NM_001283009.2(RTEL1):c.3246G>A (p.Ala1082=) rs749570178 0.00001
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val) rs771545243 0.00001
NM_001283009.2(RTEL1):c.3276C>T (p.Leu1092=) rs143869851 0.00001
NM_001283009.2(RTEL1):c.3301G>A (p.Ala1101Thr) rs746445840 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3332C>T (p.Pro1111Leu) rs746179380 0.00001
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=) rs749496657 0.00001
NM_001283009.2(RTEL1):c.3343+8G>C rs768036242 0.00001
NM_001283009.2(RTEL1):c.3344-5C>T rs751914068 0.00001
NM_001283009.2(RTEL1):c.3344-6C>G rs1455821579 0.00001
NM_001283009.2(RTEL1):c.3348C>T (p.Phe1116=) rs116037096 0.00001
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=) rs778831023 0.00001
NM_001283009.2(RTEL1):c.3379C>T (p.Arg1127Cys) rs745614952 0.00001
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His) rs771768208 0.00001
NM_001283009.2(RTEL1):c.3391A>T (p.Thr1131Ser) rs1471853155 0.00001
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe) rs200622914 0.00001
NM_001283009.2(RTEL1):c.3426C>G (p.Gly1142=) rs1421070072 0.00001
NM_001283009.2(RTEL1):c.3432G>A (p.Glu1144=) rs150020148 0.00001
NM_001283009.2(RTEL1):c.3444C>G (p.Pro1148=) rs761141453 0.00001
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=) rs779999962 0.00001
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu) rs746759990 0.00001
NM_001283009.2(RTEL1):c.3499+13C>T rs776151813 0.00001
NM_001283009.2(RTEL1):c.3499+15T>C rs546556686 0.00001
NM_001283009.2(RTEL1):c.3499+7C>T rs1228292168 0.00001
NM_001283009.2(RTEL1):c.3500-10C>T rs1346472274 0.00001
NM_001283009.2(RTEL1):c.3500-4C>T rs375417864 0.00001
NM_001283009.2(RTEL1):c.3500-8G>A rs755399951 0.00001
NM_001283009.2(RTEL1):c.3501C>T (p.Gly1167=) rs2090950580 0.00001
NM_001283009.2(RTEL1):c.3510G>A (p.Arg1170=) rs1341254091 0.00001
NM_001283009.2(RTEL1):c.3519G>A (p.Lys1173=) rs979471304 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.3534G>A (p.Gln1178=) rs781484810 0.00001
NM_001283009.2(RTEL1):c.3536G>A (p.Ser1179Asn) rs1350306450 0.00001
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=) rs760713860 0.00001
NM_001283009.2(RTEL1):c.3564G>A (p.Arg1188=) rs751837255 0.00001
NM_001283009.2(RTEL1):c.3594G>C (p.Glu1198Asp) rs1440306935 0.00001
NM_001283009.2(RTEL1):c.3603T>A (p.Gly1201=) rs779653630 0.00001
NM_001283009.2(RTEL1):c.3606C>T (p.Pro1202=) rs1187146202 0.00001
NM_001283009.2(RTEL1):c.360A>G (p.Thr120=) rs979746668 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3633G>A (p.Gly1211=) rs202163308 0.00001
NM_001283009.2(RTEL1):c.3640G>A (p.Ala1214Thr) rs1247941163 0.00001
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu) rs779295227 0.00001
NM_001283009.2(RTEL1):c.3676G>A (p.Ala1226Thr) rs371373011 0.00001
NM_001283009.2(RTEL1):c.3687G>A (p.Gln1229=) rs781271056 0.00001
NM_001283009.2(RTEL1):c.36C>T (p.Asp12=) rs1214491069 0.00001
NM_001283009.2(RTEL1):c.3706G>A (p.Gly1236Arg) rs200225613 0.00001
NM_001283009.2(RTEL1):c.3708G>T (p.Gly1236=) rs754318726 0.00001
NM_001283009.2(RTEL1):c.3744G>A (p.Gly1248=) rs754522932 0.00001
NM_001283009.2(RTEL1):c.3760C>T (p.Pro1254Ser) rs1311759310 0.00001
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter) rs1385101139 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=) rs368388044 0.00001
NM_001283009.2(RTEL1):c.3811C>T (p.Arg1271Trp) rs993254667 0.00001
NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln) rs754719045 0.00001
NM_001283009.2(RTEL1):c.3816C>T (p.His1272=) rs1230042093 0.00001
NM_001283009.2(RTEL1):c.3822+9C>T rs755701337 0.00001
NM_001283009.2(RTEL1):c.3823-3C>T rs1242643276 0.00001
NM_001283009.2(RTEL1):c.3823-4A>T rs369817802 0.00001
NM_001283009.2(RTEL1):c.3823-9G>A rs781387957 0.00001
NM_001283009.2(RTEL1):c.3825C>T (p.Ala1275=) rs775014813 0.00001
NM_001283009.2(RTEL1):c.3853G>A (p.Ala1285Thr) rs760281201 0.00001
NM_001283009.2(RTEL1):c.3858C>T (p.Ser1286=) rs1265451456 0.00001
NM_001283009.2(RTEL1):c.3861G>A (p.Arg1287=) rs753235573 0.00001
NM_001283009.2(RTEL1):c.3864G>A (p.Lys1288=) rs1278011802 0.00001
NM_001283009.2(RTEL1):c.3870C>T (p.Ser1290=) rs765090741 0.00001
NM_001283009.2(RTEL1):c.3875T>G (p.Met1292Arg) rs2090967240 0.00001
NM_001283009.2(RTEL1):c.395+19del rs780292704 0.00001
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln) rs762587175 0.00001
NM_001283009.2(RTEL1):c.396-31C>T rs562173928 0.00001
NM_001283009.2(RTEL1):c.396-5A>C rs761890952 0.00001
NM_001283009.2(RTEL1):c.396-6C>T rs778603711 0.00001
NM_001283009.2(RTEL1):c.396-79C>T rs776396450 0.00001
NM_001283009.2(RTEL1):c.436A>G (p.Ile146Val) rs1420390084 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_001283009.2(RTEL1):c.456A>G (p.Lys152=) rs373428530 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.459A>G (p.Gln153=) rs761767090 0.00001
NM_001283009.2(RTEL1):c.477+16C>T rs201882552 0.00001
NM_001283009.2(RTEL1):c.477+7T>C rs141915461 0.00001
NM_001283009.2(RTEL1):c.477+9C>T rs1466334657 0.00001
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His) rs750794827 0.00001
NM_001283009.2(RTEL1):c.510C>T (p.Arg170=) rs2090048741 0.00001
NM_001283009.2(RTEL1):c.516T>C (p.Cys172=) rs1182512155 0.00001
NM_001283009.2(RTEL1):c.525C>T (p.Tyr175=) rs1161373315 0.00001
NM_001283009.2(RTEL1):c.531C>T (p.Asn177=) rs781051899 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-16del rs770791428 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001283009.2(RTEL1):c.539-7C>T rs757040812 0.00001
NM_001283009.2(RTEL1):c.539-9C>T rs781419094 0.00001
NM_001283009.2(RTEL1):c.546C>T (p.Ser182=) rs145902382 0.00001
NM_001283009.2(RTEL1):c.563C>T (p.Ala188Val) rs1258972797 0.00001
NM_001283009.2(RTEL1):c.567C>T (p.Ser189=) rs773728236 0.00001
NM_001283009.2(RTEL1):c.596A>G (p.Lys199Arg) rs1377331597 0.00001
NM_001283009.2(RTEL1):c.614+17A>C rs1364370191 0.00001
NM_001283009.2(RTEL1):c.615-10T>C rs762692931 0.00001
NM_001283009.2(RTEL1):c.615-13C>T rs189504124 0.00001
NM_001283009.2(RTEL1):c.615-4C>T rs766130332 0.00001
NM_001283009.2(RTEL1):c.624T>C (p.Pro208=) rs1396123455 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.654A>G (p.Gln218=) rs1335062115 0.00001
NM_001283009.2(RTEL1):c.657C>T (p.Ala219=) rs148367004 0.00001
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn) rs776356655 0.00001
NM_001283009.2(RTEL1):c.699+17G>A rs757244305 0.00001
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys) rs866782181 0.00001
NM_001283009.2(RTEL1):c.714C>T (p.His238=) rs372078666 0.00001
NM_001283009.2(RTEL1):c.72C>T (p.Tyr24=) rs1424161739 0.00001
NM_001283009.2(RTEL1):c.739G>A (p.Val247Met) rs1194320122 0.00001
NM_001283009.2(RTEL1):c.765+10C>T rs551599980 0.00001
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr) rs1555901763 0.00001
NM_001283009.2(RTEL1):c.813C>T (p.Asp271=) rs1415789408 0.00001
NM_001283009.2(RTEL1):c.852G>A (p.Glu284=) rs764411233 0.00001
NM_001283009.2(RTEL1):c.870G>A (p.Ala290=) rs200099775 0.00001
NM_001283009.2(RTEL1):c.883C>A (p.Pro295Thr) rs755010352 0.00001
NM_001283009.2(RTEL1):c.905A>G (p.Asp302Gly) rs776979963 0.00001
NM_001283009.2(RTEL1):c.920-6G>C rs754549270 0.00001
NM_001283009.2(RTEL1):c.924G>A (p.Leu308=) rs767511395 0.00001
NM_001283009.2(RTEL1):c.983C>G (p.Ala328Gly) rs561033103 0.00001
NM_001283009.2(RTEL1):c.9G>A (p.Lys3=) rs746271642 0.00001
NC_000020.11:g.63692805GAG[1] rs2145445535
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
NM_001283009.2(RTEL1):c.1002G>T (p.Leu334=) rs1555902826
NM_001283009.2(RTEL1):c.1008A>G (p.Gly336=) rs2090399354
NM_001283009.2(RTEL1):c.1009G>T (p.Asp337Tyr)
NM_001283009.2(RTEL1):c.1014C>T (p.Asp338=) rs2146211321
NM_001283009.2(RTEL1):c.1016G>C (p.Ser339Thr)
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.102+13C>T rs757731065
NM_001283009.2(RTEL1):c.102+14C>G
NM_001283009.2(RTEL1):c.102+15C>G
NM_001283009.2(RTEL1):c.102+16C>T
NM_001283009.2(RTEL1):c.102+17G>A
NM_001283009.2(RTEL1):c.102+17G>C rs1305231385
NM_001283009.2(RTEL1):c.102+17_102+18insTG rs757708000
NM_001283009.2(RTEL1):c.102+20G>A
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.102+7C>T
NM_001283009.2(RTEL1):c.102+9C>G rs760616462
NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)
NM_001283009.2(RTEL1):c.1023C>T (p.Val341=) rs1251256275
NM_001283009.2(RTEL1):c.1026C>T (p.Thr342=) rs1420671075
NM_001283009.2(RTEL1):c.1029G>A (p.Lys343=)
NM_001283009.2(RTEL1):c.103-12_103-6dup
NM_001283009.2(RTEL1):c.103-14C>T
NM_001283009.2(RTEL1):c.103-15C>G rs1292134264
NM_001283009.2(RTEL1):c.103-15C>T rs1292134264
NM_001283009.2(RTEL1):c.103-16T>C
NM_001283009.2(RTEL1):c.103-7C>G
NM_001283009.2(RTEL1):c.103-7del
NM_001283009.2(RTEL1):c.103-8C>T rs1357456579
NM_001283009.2(RTEL1):c.103-9T>C rs2146148418
NM_001283009.2(RTEL1):c.1030C>G (p.Pro344Ala)
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser) rs147789792
NM_001283009.2(RTEL1):c.1037+13G>A
NM_001283009.2(RTEL1):c.1037+17C>T
NM_001283009.2(RTEL1):c.1037+19G>A
NM_001283009.2(RTEL1):c.1037+20C>G rs2146211496
NM_001283009.2(RTEL1):c.1037+7G>A
NM_001283009.2(RTEL1):c.1037+8G>A
NM_001283009.2(RTEL1):c.1037+9C>A
NM_001283009.2(RTEL1):c.1037+9C>T
NM_001283009.2(RTEL1):c.1038-11C>G
NM_001283009.2(RTEL1):c.1038-11C>T rs2146217189
NM_001283009.2(RTEL1):c.1038-13T>C rs2146217181
NM_001283009.2(RTEL1):c.1038-16_1038-15delinsGC rs2146217150
NM_001283009.2(RTEL1):c.1038-16_1038-15insG
NM_001283009.2(RTEL1):c.1038-19G>A
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1038-8_1038-6del rs1267375602
NM_001283009.2(RTEL1):c.1038-9C>T
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys) rs769658909
NM_001283009.2(RTEL1):c.1041C>T (p.Tyr347=) rs2090446510
NM_001283009.2(RTEL1):c.1044C>T (p.Ile348=)
NM_001283009.2(RTEL1):c.1047T>C (p.Phe349=)
NM_001283009.2(RTEL1):c.1050G>A (p.Glu350=)
NM_001283009.2(RTEL1):c.1056T>C (p.Phe352=) rs2146217252
NM_001283009.2(RTEL1):c.1060G>A (p.Glu354Lys)
NM_001283009.2(RTEL1):c.1068G>C (p.Gln356His)
NM_001283009.2(RTEL1):c.1071C>G (p.Ile357Met)
NM_001283009.2(RTEL1):c.1074G>A (p.Thr358=) rs375256851
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.1083C>G (p.Thr361=)
NM_001283009.2(RTEL1):c.1089C>T (p.Gly363=) rs1601138671
NM_001283009.2(RTEL1):c.1092C>T (p.Cys364=)
NM_001283009.2(RTEL1):c.1096C>T (p.Leu366=) rs1195979662
NM_001283009.2(RTEL1):c.1101C>T (p.Asp367=)
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=) rs1601138735
NM_001283009.2(RTEL1):c.1110C>T (p.Asp370=) rs2090447523
NM_001283009.2(RTEL1):c.1111C>G (p.Gln371Glu)
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
NM_001283009.2(RTEL1):c.1119C>T (p.Ile373=) rs2146217386
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
NM_001283009.2(RTEL1):c.1123C>T (p.His375Tyr)
NM_001283009.2(RTEL1):c.1125C>T (p.His375=) rs2090447629
NM_001283009.2(RTEL1):c.1128G>A (p.Leu376=)
NM_001283009.2(RTEL1):c.1133G>A (p.Gly378Glu)
NM_001283009.2(RTEL1):c.1135+10G>A rs754588541
NM_001283009.2(RTEL1):c.1135+11G>A
NM_001283009.2(RTEL1):c.1135+12_1135+17dup rs2146217458
NM_001283009.2(RTEL1):c.1135+17G>A
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1135+20C>G
NM_001283009.2(RTEL1):c.1135+7G>A
NM_001283009.2(RTEL1):c.1135+8C>T rs751931589
NM_001283009.2(RTEL1):c.1135+9T>A rs1250696685
NM_001283009.2(RTEL1):c.1135+9T>C
NM_001283009.2(RTEL1):c.1136-10T>C rs1430364226
NM_001283009.2(RTEL1):c.1136-11C>T rs748816887
NM_001283009.2(RTEL1):c.1136-12G>C
NM_001283009.2(RTEL1):c.1136-17G>A
NM_001283009.2(RTEL1):c.1136-5T>C
NM_001283009.2(RTEL1):c.1136-7C>T
NM_001283009.2(RTEL1):c.1136-8C>T
NM_001283009.2(RTEL1):c.1136-9G>T
NM_001283009.2(RTEL1):c.1137T>C (p.Arg379=)
NM_001283009.2(RTEL1):c.1139C>G (p.Ala380Gly)
NM_001283009.2(RTEL1):c.1139C>T (p.Ala380Val) rs770836729
NM_001283009.2(RTEL1):c.1144G>C (p.Val382Leu)
NM_001283009.2(RTEL1):c.1145T>C (p.Val382Ala)
NM_001283009.2(RTEL1):c.1149C>T (p.Phe383=)
NM_001283009.2(RTEL1):c.1152C>T (p.Thr384=)
NM_001283009.2(RTEL1):c.1159G>A (p.Ala387Thr) rs2146220003
NM_001283009.2(RTEL1):c.1167G>A (p.Leu389=)
NM_001283009.2(RTEL1):c.1174C>T (p.Leu392=)
NM_001283009.2(RTEL1):c.1176G>A (p.Leu392=) rs2090461502
NM_001283009.2(RTEL1):c.1182C>T (p.Asp394=)
NM_001283009.2(RTEL1):c.1191+10G>C rs2146220136
NM_001283009.2(RTEL1):c.1191+13C>T
NM_001283009.2(RTEL1):c.1191+14C>T
NM_001283009.2(RTEL1):c.1191+1G>A rs2090461817
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1191+4G>C
NM_001283009.2(RTEL1):c.1191+8C>T rs767844458
NM_001283009.2(RTEL1):c.1191+9T>C
NM_001283009.2(RTEL1):c.1191+9dup rs2146220115
NM_001283009.2(RTEL1):c.1192-11C>A
NM_001283009.2(RTEL1):c.1192-13C>G
NM_001283009.2(RTEL1):c.1192-13C>T rs200449854
NM_001283009.2(RTEL1):c.1192-14C>T
NM_001283009.2(RTEL1):c.1192-17C>A
NM_001283009.2(RTEL1):c.1192-17C>T
NM_001283009.2(RTEL1):c.1192-19C>T
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1192-3C>T rs2145411176
NM_001283009.2(RTEL1):c.1192-7C>T
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)
NM_001283009.2(RTEL1):c.1203T>C (p.Ser401=) rs2145411213
NM_001283009.2(RTEL1):c.1206G>T (p.Val402=) rs2145411236
NM_001283009.2(RTEL1):c.1209C>A (p.Asp403Glu) rs781077567
NM_001283009.2(RTEL1):c.120G>A (p.Leu40=) rs1555899465
NM_001283009.2(RTEL1):c.1210C>A (p.Pro404Thr) rs2090573551
NM_001283009.2(RTEL1):c.1212C>T (p.Pro404=)
NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)
NM_001283009.2(RTEL1):c.1214C>T (p.Ser405Phe)
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1228_1266+39del rs2090573767
NM_001283009.2(RTEL1):c.1229G>C (p.Gly410Ala)
NM_001283009.2(RTEL1):c.1233C>T (p.Ser411=)
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1242G>T (p.Gly414=)
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg) rs772510897
NM_001283009.2(RTEL1):c.1248G>A (p.Gly416=)
NM_001283009.2(RTEL1):c.1249G>A (p.Ala417Thr)
NM_001283009.2(RTEL1):c.1252T>C (p.Leu418=)
NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)
NM_001283009.2(RTEL1):c.1255C>G (p.Gln419Glu)
NM_001283009.2(RTEL1):c.1257G>A (p.Gln419=) rs2145411459
NM_001283009.2(RTEL1):c.1259C>T (p.Ser420Phe)
NM_001283009.2(RTEL1):c.1260C>A (p.Ser420=)
NM_001283009.2(RTEL1):c.1261T>C (p.Tyr421His)
NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)
NM_001283009.2(RTEL1):c.1262A>G (p.Tyr421Cys)
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1263T>C (p.Tyr421=)
NM_001283009.2(RTEL1):c.1266+10A>G rs2145411553
NM_001283009.2(RTEL1):c.1266+11C>A
NM_001283009.2(RTEL1):c.1266+12C>T
NM_001283009.2(RTEL1):c.1266+17G>C
NM_001283009.2(RTEL1):c.1266+20G>A
NM_001283009.2(RTEL1):c.1266+29_1267-88del rs1568703547
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1266+6G>A
NM_001283009.2(RTEL1):c.1266+7G>A
NM_001283009.2(RTEL1):c.1266+8C>T
NM_001283009.2(RTEL1):c.1266+9C>T rs1601156030
NM_001283009.2(RTEL1):c.1267-10del
NM_001283009.2(RTEL1):c.1267-11G>C
NM_001283009.2(RTEL1):c.1267-14C>G
NM_001283009.2(RTEL1):c.1267-16G>A
NM_001283009.2(RTEL1):c.1267-17G>T
NM_001283009.2(RTEL1):c.1267-20C>A
NM_001283009.2(RTEL1):c.1267-4C>T
NM_001283009.2(RTEL1):c.1267-6del rs769812313
NM_001283009.2(RTEL1):c.1267-8C>G
NM_001283009.2(RTEL1):c.1267-8C>T rs2090579465
NM_001283009.2(RTEL1):c.1267G>A (p.Val423Met)
NM_001283009.2(RTEL1):c.1269G>C (p.Val423=) rs1486180842
NM_001283009.2(RTEL1):c.126C>T (p.Ser42=) rs2090015969
NM_001283009.2(RTEL1):c.1270C>T (p.His424Tyr) rs1568703945
NM_001283009.2(RTEL1):c.1271A>T (p.His424Leu)
NM_001283009.2(RTEL1):c.1275C>A (p.Ile425=)
NM_001283009.2(RTEL1):c.1276C>T (p.His426Tyr)
NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)
NM_001283009.2(RTEL1):c.1282G>T (p.Asp428Tyr)
NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)
NM_001283009.2(RTEL1):c.1286C>G (p.Ala429Gly) rs149428839
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
NM_001283009.2(RTEL1):c.1293C>T (p.His431=)
NM_001283009.2(RTEL1):c.1299G>A (p.Arg433=)
NM_001283009.2(RTEL1):c.129T>A (p.Pro43=) rs544841425
NM_001283009.2(RTEL1):c.129T>G (p.Pro43=)
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1302G>T (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1310G>A (p.Arg437Gln) rs537151019
NM_001283009.2(RTEL1):c.1311G>A (p.Arg437=) rs373693726
NM_001283009.2(RTEL1):c.1318G>T (p.Ala440Ser)
NM_001283009.2(RTEL1):c.1319C>G (p.Ala440Gly)
NM_001283009.2(RTEL1):c.1323G>T (p.Trp441Cys) rs2090580676
NM_001283009.2(RTEL1):c.1329C>T (p.Thr443=)
NM_001283009.2(RTEL1):c.132G>A (p.Thr44=) rs377454469
NM_001283009.2(RTEL1):c.132G>C (p.Thr44=)
NM_001283009.2(RTEL1):c.1331C>A (p.Thr444Asn)
NM_001283009.2(RTEL1):c.1332T>A (p.Thr444=) rs753642100
NM_001283009.2(RTEL1):c.1332T>C (p.Thr444=)
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
NM_001283009.2(RTEL1):c.1344G>A (p.Lys448=) rs755129499
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1348+10T>A
NM_001283009.2(RTEL1):c.1348+14C>T rs1183912815
NM_001283009.2(RTEL1):c.1348+15C>T
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1348+3A>G
NM_001283009.2(RTEL1):c.1348+4C>T
NM_001283009.2(RTEL1):c.1348+6G>T rs371358328
NM_001283009.2(RTEL1):c.1349-10dup
NM_001283009.2(RTEL1):c.1349-13C>G rs376698655
NM_001283009.2(RTEL1):c.1349-14_1349-13delinsTT rs2145419536
NM_001283009.2(RTEL1):c.1349-15C>G
NM_001283009.2(RTEL1):c.1349-15C>T
NM_001283009.2(RTEL1):c.1349-18CCGCCCC[3]
NM_001283009.2(RTEL1):c.1349-19G>T
NM_001283009.2(RTEL1):c.1349-4A>C
NM_001283009.2(RTEL1):c.1349-5C>A
NM_001283009.2(RTEL1):c.1349-7C>G
NM_001283009.2(RTEL1):c.1349-8C>T
NM_001283009.2(RTEL1):c.1349-9G>C rs772899702
NM_001283009.2(RTEL1):c.1352A>G (p.Lys451Arg)
NM_001283009.2(RTEL1):c.1356G>A (p.Val452=)
NM_001283009.2(RTEL1):c.1365C>T (p.Tyr455=) rs1189837200
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1378C>A (p.Pro460Thr)
NM_001283009.2(RTEL1):c.1380C>A (p.Pro460=)
NM_001283009.2(RTEL1):c.1383C>T (p.Gly461=)
NM_001283009.2(RTEL1):c.1386C>T (p.His462=)
NM_001283009.2(RTEL1):c.138A>G (p.Thr46=)
NM_001283009.2(RTEL1):c.1395C>A (p.His465Gln)
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1398G>A (p.Glu466=)
NM_001283009.2(RTEL1):c.1401G>C (p.Leu467=) rs1601162484
NM_001283009.2(RTEL1):c.1401G>T (p.Leu467=) rs1601162484
NM_001283009.2(RTEL1):c.1403T>G (p.Val468Gly) rs2145419818
NM_001283009.2(RTEL1):c.1404C>T (p.Val468=)
NM_001283009.2(RTEL1):c.1405C>T (p.Arg469Cys)
NM_001283009.2(RTEL1):c.1406G>T (p.Arg469Leu) rs779627326
NM_001283009.2(RTEL1):c.1407C>T (p.Arg469=)
NM_001283009.2(RTEL1):c.1410G>T (p.Gln470His)
NM_001283009.2(RTEL1):c.1418G>A (p.Arg473His)
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=) rs117195545
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)
NM_001283009.2(RTEL1):c.1443G>T (p.Thr481=)
NM_001283009.2(RTEL1):c.1448C>T (p.Ala483Val) rs2090629357
NM_001283009.2(RTEL1):c.1449C>T (p.Ala483=)
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1452G>C (p.Pro484=) rs201307924
NM_001283009.2(RTEL1):c.1458C>G (p.Ser486=)
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1461C>G (p.Ser487=)
NM_001283009.2(RTEL1):c.1467T>A (p.Ala489=) rs753978578
NM_001283009.2(RTEL1):c.1468C>T (p.Leu490=)
NM_001283009.2(RTEL1):c.1469T>C (p.Leu490Pro) rs2145420008
NM_001283009.2(RTEL1):c.1474A>T (p.Met492Leu)
NM_001283009.2(RTEL1):c.1479G>A (p.Gln493=)
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His) rs999309460
NM_001283009.2(RTEL1):c.1481+11C>T
NM_001283009.2(RTEL1):c.1481+13C>T
NM_001283009.2(RTEL1):c.1481+15_1481+16del
NM_001283009.2(RTEL1):c.1481+17C>T
NM_001283009.2(RTEL1):c.1481+20G>A
NM_001283009.2(RTEL1):c.1481+4C>T
NM_001283009.2(RTEL1):c.1481+8C>A
NM_001283009.2(RTEL1):c.1482-10C>T
NM_001283009.2(RTEL1):c.1482-11G>A
NM_001283009.2(RTEL1):c.1482-14C>T
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1482-20C>G
NM_001283009.2(RTEL1):c.1482-20C>T
NM_001283009.2(RTEL1):c.1482-5C>G
NM_001283009.2(RTEL1):c.1482-6G>T
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
NM_001283009.2(RTEL1):c.1482-9C>A rs1601163130
NM_001283009.2(RTEL1):c.1482-9C>T rs1601163130
NM_001283009.2(RTEL1):c.1497C>T (p.Cys499=) rs2145420903
NM_001283009.2(RTEL1):c.1498C>T (p.Leu500=) rs2145420911
NM_001283009.2(RTEL1):c.1503G>A (p.Glu501=)
NM_001283009.2(RTEL1):c.1505A>G (p.Asn502Ser) rs2145420924
NM_001283009.2(RTEL1):c.1507C>G (p.Pro503Ala)
NM_001283009.2(RTEL1):c.1509A>C (p.Pro503=)
NM_001283009.2(RTEL1):c.1515C>A (p.Ile505=) rs2145420942
NM_001283009.2(RTEL1):c.1519G>A (p.Asp507Asn)
NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)
NM_001283009.2(RTEL1):c.1520A>G (p.Asp507Gly)
NM_001283009.2(RTEL1):c.1522A>G (p.Lys508Glu) rs2090635139
NM_001283009.2(RTEL1):c.153C>T (p.Cys51=)
NM_001283009.2(RTEL1):c.1541G>C (p.Gly514Ala)
NM_001283009.2(RTEL1):c.1542G>A (p.Gly514=) rs116641785
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1548C>A (p.Val516=)
NM_001283009.2(RTEL1):c.1549C>T (p.Pro517Ser)
NM_001283009.2(RTEL1):c.154C>T (p.Leu52=) rs2146148631
NM_001283009.2(RTEL1):c.1551C>T (p.Pro517=) rs1171672332
NM_001283009.2(RTEL1):c.1553G>C (p.Arg518Thr)
NM_001283009.2(RTEL1):c.1554A>G (p.Arg518=) rs2145421067
NM_001283009.2(RTEL1):c.1557C>A (p.Gly519=)
NM_001283009.2(RTEL1):c.1558C>G (p.Pro520Ala) rs763306707
NM_001283009.2(RTEL1):c.1560C>A (p.Pro520=) rs766940725
NM_001283009.2(RTEL1):c.1563T>C (p.Asp521=)
NM_001283009.2(RTEL1):c.1573T>C (p.Leu525=)
NM_001283009.2(RTEL1):c.1576A>G (p.Ser526Gly)
NM_001283009.2(RTEL1):c.1578C>T (p.Ser526=) rs1436538013
NM_001283009.2(RTEL1):c.1582G>A (p.Ala528Thr)
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1583C>T (p.Ala528Val) rs760398738
NM_001283009.2(RTEL1):c.1584G>A (p.Ala528=) rs568600515
NM_001283009.2(RTEL1):c.1584G>T (p.Ala528=) rs568600515
NM_001283009.2(RTEL1):c.1595+11G>A
NM_001283009.2(RTEL1):c.1595+13C>G
NM_001283009.2(RTEL1):c.1595+14C>A
NM_001283009.2(RTEL1):c.1595+15C>T
NM_001283009.2(RTEL1):c.1595+1G>A rs2145421181
NM_001283009.2(RTEL1):c.1595+8C>T
NM_001283009.2(RTEL1):c.1595_1595+8del
NM_001283009.2(RTEL1):c.1596-10_1596-9del
NM_001283009.2(RTEL1):c.1596-12C>T
NM_001283009.2(RTEL1):c.1596-14C>G
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_001283009.2(RTEL1):c.1596-5T>A
NM_001283009.2(RTEL1):c.1596-7G>C rs1417919064
NM_001283009.2(RTEL1):c.1596-8G>C rs374702981
NM_001283009.2(RTEL1):c.1596-8G>T
NM_001283009.2(RTEL1):c.1601C>A (p.Ser534Tyr)
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter) rs1367858373
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) rs2090639016
NM_001283009.2(RTEL1):c.1610G>A (p.Cys537Tyr)
NM_001283009.2(RTEL1):c.1611C>T (p.Cys537=)
NM_001283009.2(RTEL1):c.1614A>T (p.Leu538Phe)
NM_001283009.2(RTEL1):c.1616C>T (p.Ser539Phe)
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.1620C>T (p.Ser540=)
NM_001283009.2(RTEL1):c.1621C>T (p.Leu541=)
NM_001283009.2(RTEL1):c.1623G>A (p.Leu541=)
NM_001283009.2(RTEL1):c.1623G>C (p.Leu541=)
NM_001283009.2(RTEL1):c.162C>T (p.Cys54=)
NM_001283009.2(RTEL1):c.1636+11T>A
NM_001283009.2(RTEL1):c.1636+17C>T
NM_001283009.2(RTEL1):c.1636+18C>T
NM_001283009.2(RTEL1):c.1636+19C>A
NM_001283009.2(RTEL1):c.1636+7G>T
NM_001283009.2(RTEL1):c.1636+8C>A rs2145421713
NM_001283009.2(RTEL1):c.1636+8C>T rs2145421713
NM_001283009.2(RTEL1):c.1636G>C (p.Gly546Arg)
NM_001283009.2(RTEL1):c.1637-15C>A
NM_001283009.2(RTEL1):c.1637-16del
NM_001283009.2(RTEL1):c.1637-19C>G
NM_001283009.2(RTEL1):c.1637-19C>T
NM_001283009.2(RTEL1):c.1637-20C>A
NM_001283009.2(RTEL1):c.1637-20C>T rs762602851
NM_001283009.2(RTEL1):c.1637-3del
NM_001283009.2(RTEL1):c.1637-4C>A
NM_001283009.2(RTEL1):c.1637-4C>G rs759414555
NM_001283009.2(RTEL1):c.1637-50A>C rs2777941
NM_001283009.2(RTEL1):c.1637-7C>T
NM_001283009.2(RTEL1):c.1637-8A>C
NM_001283009.2(RTEL1):c.1637-8A>G
NM_001283009.2(RTEL1):c.1637G>A (p.Gly546Asp)
NM_001283009.2(RTEL1):c.163A>G (p.Thr55Ala)
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr) rs1408202470
NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val) rs752494712
NM_001283009.2(RTEL1):c.1647C>A (p.Ala549=) rs2145422344
NM_001283009.2(RTEL1):c.1649G>A (p.Arg550His) rs765499822
NM_001283009.2(RTEL1):c.1650C>G (p.Arg550=) rs147825631
NM_001283009.2(RTEL1):c.1658C>T (p.Pro553Leu)
NM_001283009.2(RTEL1):c.1660T>C (p.Tyr554His)
NM_001283009.2(RTEL1):c.1661A>C (p.Tyr554Ser)
NM_001283009.2(RTEL1):c.1665G>A (p.Gly555=)
NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro) rs1601164500
NM_001283009.2(RTEL1):c.1671G>A (p.Leu557=) rs2145422444
NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)
NM_001283009.2(RTEL1):c.1674C>T (p.Ile558=) rs1601164518
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
NM_001283009.2(RTEL1):c.1686C>G (p.Ser562=)
NM_001283009.2(RTEL1):c.168G>T (p.Thr56=) rs776722400
NM_001283009.2(RTEL1):c.1692T>C (p.Pro564=) rs1601164560
NM_001283009.2(RTEL1):c.1695C>G (p.Val565=) rs781633180
NM_001283009.2(RTEL1):c.1695C>T (p.Val565=)
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
NM_001283009.2(RTEL1):c.16C>T (p.Leu6=)
NM_001283009.2(RTEL1):c.1701G>A (p.Glu567=) rs1480924155
NM_001283009.2(RTEL1):c.1702A>T (p.Lys568Ter)
NM_001283009.2(RTEL1):c.1710G>A (p.Leu570=) rs2145422538
NM_001283009.2(RTEL1):c.1716C>T (p.Phe572=)
NM_001283009.2(RTEL1):c.1721G>A (p.Arg574Gln)
NM_001283009.2(RTEL1):c.1721G>C (p.Arg574Pro)
NM_001283009.2(RTEL1):c.1722+10C>A
NM_001283009.2(RTEL1):c.1722+10C>G rs542270397
NM_001283009.2(RTEL1):c.1722+10C>T
NM_001283009.2(RTEL1):c.1722+10_1722+11delinsTT
NM_001283009.2(RTEL1):c.1722+12C>G
NM_001283009.2(RTEL1):c.1722+12_1722+13del
NM_001283009.2(RTEL1):c.1722+13T>C
NM_001283009.2(RTEL1):c.1722+14G>A
NM_001283009.2(RTEL1):c.1722+16G>T
NM_001283009.2(RTEL1):c.1722+20T>C
NM_001283009.2(RTEL1):c.1722+4C>T
NM_001283009.2(RTEL1):c.1722+5G>A
NM_001283009.2(RTEL1):c.1722+7C>T rs1291638268
NM_001283009.2(RTEL1):c.1722+9C>A
NM_001283009.2(RTEL1):c.1722+9C>T rs1344464320
NM_001283009.2(RTEL1):c.1723-10C>T
NM_001283009.2(RTEL1):c.1723-13C>G
NM_001283009.2(RTEL1):c.1723-15C>T
NM_001283009.2(RTEL1):c.1723-17G>C rs1234690358
NM_001283009.2(RTEL1):c.1723-20C>T
NM_001283009.2(RTEL1):c.1723-5C>T rs1601165217
NM_001283009.2(RTEL1):c.1723-6C>T
NM_001283009.2(RTEL1):c.1723-9C>G rs2145423160
NM_001283009.2(RTEL1):c.1723-9C>T rs2145423160
NM_001283009.2(RTEL1):c.1723-9del
NM_001283009.2(RTEL1):c.1725C>T (p.Ala575=) rs375696298
NM_001283009.2(RTEL1):c.1726C>T (p.Arg576Cys)
NM_001283009.2(RTEL1):c.1728C>A (p.Arg576=) rs754225573
NM_001283009.2(RTEL1):c.1728C>G (p.Arg576=)
NM_001283009.2(RTEL1):c.1736C>T (p.Ala579Val) rs2145423231
NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)
NM_001283009.2(RTEL1):c.1743G>A (p.Lys581=)
NM_001283009.2(RTEL1):c.1744A>G (p.Met582Val)
NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)
NM_001283009.2(RTEL1):c.1750G>T (p.Ala584Ser)
NM_001283009.2(RTEL1):c.1753C>T (p.Leu585=) rs1347654093
NM_001283009.2(RTEL1):c.1755G>A (p.Leu585=)
NM_001283009.2(RTEL1):c.1758G>A (p.Lys586=)
NM_001283009.2(RTEL1):c.1760C>T (p.Pro587Leu)
NM_001283009.2(RTEL1):c.1761G>C (p.Pro587=)
NM_001283009.2(RTEL1):c.1762C>T (p.Leu588=) rs2145423314
NM_001283009.2(RTEL1):c.1764G>C (p.Leu588=)
NM_001283009.2(RTEL1):c.1767T>C (p.Phe589=) rs747945947
NM_001283009.2(RTEL1):c.1770G>A (p.Val590=) rs2090649363
NM_001283009.2(RTEL1):c.1773G>A (p.Glu591=) rs398123051
NM_001283009.2(RTEL1):c.1776C>T (p.Pro592=) rs771155864
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.1779G>A (p.Arg593=) rs2145423376
NM_001283009.2(RTEL1):c.1788C>G (p.Gly596=) rs1601165422
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1796C>A (p.Ser599Tyr)
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
NM_001283009.2(RTEL1):c.1800+10T>A
NM_001283009.2(RTEL1):c.1800+12G>A
NM_001283009.2(RTEL1):c.1800+12G>C
NM_001283009.2(RTEL1):c.1800+13C>T
NM_001283009.2(RTEL1):c.1800+16G>T
NM_001283009.2(RTEL1):c.1800+17G>T
NM_001283009.2(RTEL1):c.1800+19C>G
NM_001283009.2(RTEL1):c.1800+4G>C rs370973086
NM_001283009.2(RTEL1):c.1800+5G>A
NM_001283009.2(RTEL1):c.1800+8C>G
NM_001283009.2(RTEL1):c.1801-10T>C
NM_001283009.2(RTEL1):c.1801-12C>T
NM_001283009.2(RTEL1):c.1801-14A>T rs2145425572
NM_001283009.2(RTEL1):c.1801-16C>G
NM_001283009.2(RTEL1):c.1801-18C>T
NM_001283009.2(RTEL1):c.1801-7C>A
NM_001283009.2(RTEL1):c.1801-7C>T rs2090663079
NM_001283009.2(RTEL1):c.1801-9T>A
NM_001283009.2(RTEL1):c.1805T>C (p.Ile602Thr)
NM_001283009.2(RTEL1):c.1812T>G (p.Ala604=) rs2145425650
NM_001283009.2(RTEL1):c.1815C>T (p.Tyr605=) rs2145425659
NM_001283009.2(RTEL1):c.1818T>C (p.Tyr606=)
NM_001283009.2(RTEL1):c.1820C>G (p.Ala607Gly)
NM_001283009.2(RTEL1):c.1821A>G (p.Ala607=) rs2145425699
NM_001283009.2(RTEL1):c.1831G>A (p.Ala611Thr)
NM_001283009.2(RTEL1):c.1835C>T (p.Pro612Leu)
NM_001283009.2(RTEL1):c.1836T>G (p.Pro612=) rs2145425776
NM_001283009.2(RTEL1):c.1839G>C (p.Gly613=)
NM_001283009.2(RTEL1):c.1846G>A (p.Gly616Ser)
NM_001283009.2(RTEL1):c.1854C>T (p.Thr618=) rs763476953
NM_001283009.2(RTEL1):c.1857C>T (p.Phe619=)
NM_001283009.2(RTEL1):c.1858C>G (p.Leu620Val) rs368411912
NM_001283009.2(RTEL1):c.1858C>T (p.Leu620=) rs368411912
NM_001283009.2(RTEL1):c.1863G>T (p.Ala621=)
NM_001283009.2(RTEL1):c.1866C>G (p.Val622=) rs2090664684
NM_001283009.2(RTEL1):c.1868G>A (p.Cys623Tyr)
NM_001283009.2(RTEL1):c.1870C>T (p.Arg624Trp)
NM_001283009.2(RTEL1):c.1871G>T (p.Arg624Leu)
NM_001283009.2(RTEL1):c.1872G>C (p.Arg624=) rs2145425931
NM_001283009.2(RTEL1):c.1872G>T (p.Arg624=) rs2145425931
NM_001283009.2(RTEL1):c.1874G>A (p.Gly625Asp) rs2145425936
NM_001283009.2(RTEL1):c.1878+11_1878+20del
NM_001283009.2(RTEL1):c.1878+12A>G
NM_001283009.2(RTEL1):c.1878+12del
NM_001283009.2(RTEL1):c.1878+16C>T
NM_001283009.2(RTEL1):c.1878+17C>A
NM_001283009.2(RTEL1):c.1878+17C>T
NM_001283009.2(RTEL1):c.1878+20C>G
NM_001283009.2(RTEL1):c.1878+20C>T
NM_001283009.2(RTEL1):c.1878+7T>A rs2145425963
NM_001283009.2(RTEL1):c.1878+7T>C
NM_001283009.2(RTEL1):c.1878+8C>T
NM_001283009.2(RTEL1):c.1879-11G>A
NM_001283009.2(RTEL1):c.1879-13G>A
NM_001283009.2(RTEL1):c.1879-14_1879-4dup
NM_001283009.2(RTEL1):c.1879-16C>G rs373555734
NM_001283009.2(RTEL1):c.1879-18C>T
NM_001283009.2(RTEL1):c.1879-19T>A
NM_001283009.2(RTEL1):c.1879-4del
NM_001283009.2(RTEL1):c.1879-5C>T
NM_001283009.2(RTEL1):c.1879-7C>A
NM_001283009.2(RTEL1):c.1881C>T (p.Ala627=) rs2090674624
NM_001283009.2(RTEL1):c.1884C>T (p.Ser628=)
NM_001283009.2(RTEL1):c.1885G>A (p.Glu629Lys)
NM_001283009.2(RTEL1):c.1886A>G (p.Glu629Gly)
NM_001283009.2(RTEL1):c.188_190del (p.Leu63del)
NM_001283009.2(RTEL1):c.1890G>T (p.Gly630=)
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs) rs2145427564
NM_001283009.2(RTEL1):c.1893G>A (p.Leu631=) rs752909114
NM_001283009.2(RTEL1):c.1899C>T (p.Phe633=)
NM_001283009.2(RTEL1):c.189C>G (p.Leu63=)
NM_001283009.2(RTEL1):c.1908G>C (p.Thr636=)
NM_001283009.2(RTEL1):c.1909A>T (p.Asn637Tyr)
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1910A>G (p.Asn637Ser)
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
NM_001283009.2(RTEL1):c.1911T>C (p.Asn637=) rs2145427641
NM_001283009.2(RTEL1):c.1926T>C (p.Ile642=)
NM_001283009.2(RTEL1):c.1929C>T (p.Val643=) rs1430582760
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1938C>T (p.Leu646=)
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1941G>T (p.Pro647=)
NM_001283009.2(RTEL1):c.1944C>T (p.Tyr648=)
NM_001283009.2(RTEL1):c.1947C>A (p.Pro649=)
NM_001283009.2(RTEL1):c.1947C>G (p.Pro649=)
NM_001283009.2(RTEL1):c.1947C>T (p.Pro649=) rs746604406
NM_001283009.2(RTEL1):c.194A>T (p.Asp65Val)
NM_001283009.2(RTEL1):c.1950A>C (p.Pro650=) rs761454817
NM_001283009.2(RTEL1):c.1952G>A (p.Arg651His) rs773159241
NM_001283009.2(RTEL1):c.1954A>C (p.Met652Leu) rs766133842
NM_001283009.2(RTEL1):c.1955T>A (p.Met652Lys)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1959C>T (p.Asp653=)
NM_001283009.2(RTEL1):c.1962C>T (p.Pro654=)
NM_001283009.2(RTEL1):c.1963C>A (p.Arg655=)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.1964G>A (p.Arg655Gln) rs753884575
NM_001283009.2(RTEL1):c.196G>A (p.Gly66Ser) rs755641587
NM_001283009.2(RTEL1):c.1974C>T (p.Leu658=)
NM_001283009.2(RTEL1):c.197G>T (p.Gly66Val) rs777459653
NM_001283009.2(RTEL1):c.1982A>G (p.Gln661Arg) rs758832096
NM_001283009.2(RTEL1):c.1987C>T (p.Leu663=)
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.1998G>T (p.Met666Ile)
NM_001283009.2(RTEL1):c.2003G>A (p.Gly668Asp)
NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)
NM_001283009.2(RTEL1):c.2004C>T (p.Gly668=)
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)
NM_001283009.2(RTEL1):c.2007G>A (p.Gln669=) rs2145428063
NM_001283009.2(RTEL1):c.2010T>G (p.Gly670=)
NM_001283009.2(RTEL1):c.2011G>A (p.Gly671Arg)
NM_001283009.2(RTEL1):c.2017G>A (p.Gly673Arg)
NM_001283009.2(RTEL1):c.2019G>C (p.Gly673=) rs2145428129
NM_001283009.2(RTEL1):c.2022C>A (p.Gly674=)
NM_001283009.2(RTEL1):c.2025+10A>C rs770832240
NM_001283009.2(RTEL1):c.2025+11G>A
NM_001283009.2(RTEL1):c.2025+13A>G
NM_001283009.2(RTEL1):c.2025+15_2025+16dup
NM_001283009.2(RTEL1):c.2025+5G>A rs762945317
NM_001283009.2(RTEL1):c.2025+7T>C
NM_001283009.2(RTEL1):c.2025+9C>G rs1023672262
NM_001283009.2(RTEL1):c.2026-11T>C
NM_001283009.2(RTEL1):c.2026-12C>G
NM_001283009.2(RTEL1):c.2026-14G>A rs753171579
NM_001283009.2(RTEL1):c.2026-14G>C
NM_001283009.2(RTEL1):c.2026-20C>G
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2026-8C>T
NM_001283009.2(RTEL1):c.2026-9G>A rs1451108755
NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)
NM_001283009.2(RTEL1):c.2028C>T (p.Phe676=)
NM_001283009.2(RTEL1):c.2031C>T (p.Leu677=)
NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) rs2090682958
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2049C>T (p.Tyr683=) rs745736556
NM_001283009.2(RTEL1):c.2050C>T (p.Arg684Trp)
NM_001283009.2(RTEL1):c.2052G>C (p.Arg684=) rs2145428905
NM_001283009.2(RTEL1):c.205G>A (p.Ala69Thr) rs768524684
NM_001283009.2(RTEL1):c.2060C>T (p.Ala687Val)
NM_001283009.2(RTEL1):c.2061G>C (p.Ala687=)
NM_001283009.2(RTEL1):c.2070T>C (p.Ala690=) rs2145428965
NM_001283009.2(RTEL1):c.2073G>A (p.Val691=)
NM_001283009.2(RTEL1):c.207C>T (p.Ala69=) rs957858006
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
NM_001283009.2(RTEL1):c.2082C>T (p.Ala694=) rs2145428995
NM_001283009.2(RTEL1):c.2083A>G (p.Ile695Val) rs2090684109
NM_001283009.2(RTEL1):c.2085C>A (p.Ile695=)
NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)
NM_001283009.2(RTEL1):c.2088G>A (p.Gly696=) rs2145429023
NM_001283009.2(RTEL1):c.2088G>T (p.Gly696=)
NM_001283009.2(RTEL1):c.208C>G (p.Arg70Gly)
NM_001283009.2(RTEL1):c.2091A>C (p.Arg697=) rs2145429055
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.209G>T (p.Arg70Leu)
NM_001283009.2(RTEL1):c.2100G>A (p.Arg700=) rs1363635362
NM_001283009.2(RTEL1):c.2103C>T (p.His701=)
NM_001283009.2(RTEL1):c.2121T>C (p.Ala707=)
NM_001283009.2(RTEL1):c.2124C>T (p.Val708=) rs1345711959
NM_001283009.2(RTEL1):c.2130C>T (p.Leu710=) rs2145429198
NM_001283009.2(RTEL1):c.2137C>G (p.His713Asp) rs2145429206
NM_001283009.2(RTEL1):c.2139C>T (p.His713=) rs2145429218
NM_001283009.2(RTEL1):c.2141+10G>A
NM_001283009.2(RTEL1):c.2141+10G>C rs2145429313
NM_001283009.2(RTEL1):c.2141+13C>A
NM_001283009.2(RTEL1):c.2141+13C>T
NM_001283009.2(RTEL1):c.2141+14G>C
NM_001283009.2(RTEL1):c.2141+14_2141+48del
NM_001283009.2(RTEL1):c.2141+15G>A
NM_001283009.2(RTEL1):c.2141+19C>A
NM_001283009.2(RTEL1):c.2141+7G>A
NM_001283009.2(RTEL1):c.2141+8C>T
NM_001283009.2(RTEL1):c.2141+9A>G rs2145429302
NM_001283009.2(RTEL1):c.2142-10C>A
NM_001283009.2(RTEL1):c.2142-10C>T
NM_001283009.2(RTEL1):c.2142-10del
NM_001283009.2(RTEL1):c.2142-12G>A
NM_001283009.2(RTEL1):c.2142-17C>T
NM_001283009.2(RTEL1):c.2142-18G>T
NM_001283009.2(RTEL1):c.2142-19G>A
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2142-4C>A rs762201678
NM_001283009.2(RTEL1):c.2142-4_2142-3dup
NM_001283009.2(RTEL1):c.2142-7C>T rs879582201
NM_001283009.2(RTEL1):c.2142-8C>A rs769261916
NM_001283009.2(RTEL1):c.2142-8C>T rs769261916
NM_001283009.2(RTEL1):c.2142G>A (p.Arg714=) rs2145430556
NM_001283009.2(RTEL1):c.2142G>C (p.Arg714Ser)
NM_001283009.2(RTEL1):c.2148C>G (p.Ala716=) rs2090696568
NM_001283009.2(RTEL1):c.2148C>T (p.Ala716=) rs2090696568
NM_001283009.2(RTEL1):c.2159C>T (p.Ala720Val) rs2145430644
NM_001283009.2(RTEL1):c.215T>C (p.Ile72Thr)
NM_001283009.2(RTEL1):c.2164G>A (p.Ala722Thr)
NM_001283009.2(RTEL1):c.2164G>T (p.Ala722Ser) rs2090697243
NM_001283009.2(RTEL1):c.2169A>C (p.Gln723His)
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.2175C>T (p.Pro725=) rs2145430702
NM_001283009.2(RTEL1):c.2178C>G (p.Ser726=)
NM_001283009.2(RTEL1):c.217G>A (p.Ala73Thr)
NM_001283009.2(RTEL1):c.2182G>A (p.Val728Met)
NM_001283009.2(RTEL1):c.2186G>A (p.Arg729His)
NM_001283009.2(RTEL1):c.2190C>G (p.Pro730=) rs144933599
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile) rs142039934
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.21T>C (p.Asn7=)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
NM_001283009.2(RTEL1):c.2208C>T (p.Asp736=) rs1466033531
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2211C>G (p.Asn737Lys)
NM_001283009.2(RTEL1):c.2211C>T (p.Asn737=) rs759047464
NM_001283009.2(RTEL1):c.2214T>C (p.Phe738=)
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2220T>C (p.His740=)
NM_001283009.2(RTEL1):c.2222_2223delinsGT (p.Val741Gly)
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) rs2090699166
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=) rs1601170877
NM_001283009.2(RTEL1):c.222G>A (p.Glu74=) rs2146148909
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2233G>C (p.Val745Leu)
NM_001283009.2(RTEL1):c.2235G>A (p.Val745=)
NM_001283009.2(RTEL1):c.2237C>T (p.Ala746Val)
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter) rs2145430921
NM_001283009.2(RTEL1):c.2247C>T (p.Phe749=)
NM_001283009.2(RTEL1):c.2248C>T (p.Arg750Cys) rs2090699912
NM_001283009.2(RTEL1):c.2249G>T (p.Arg750Leu) rs758667681
NM_001283009.2(RTEL1):c.2253T>C (p.Val751=)
NM_001283009.2(RTEL1):c.2256C>A (p.Ala752=)
NM_001283009.2(RTEL1):c.2257G>A (p.Glu753Lys)
NM_001283009.2(RTEL1):c.2265+10T>A rs2090701320
NM_001283009.2(RTEL1):c.2265+13C>T
NM_001283009.2(RTEL1):c.2265+13_2265+17del
NM_001283009.2(RTEL1):c.2265+14C>T
NM_001283009.2(RTEL1):c.2265+15A>G
NM_001283009.2(RTEL1):c.2265+16G>T
NM_001283009.2(RTEL1):c.2265+17G>C
NM_001283009.2(RTEL1):c.2265+19del
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2265+20G>A
NM_001283009.2(RTEL1):c.2265+7dup rs1568712284
NM_001283009.2(RTEL1):c.2266-10G>T rs1380515012
NM_001283009.2(RTEL1):c.2266-12A>G
NM_001283009.2(RTEL1):c.2266-13C>T
NM_001283009.2(RTEL1):c.2266-13dup rs546123796
NM_001283009.2(RTEL1):c.2266-14C>T
NM_001283009.2(RTEL1):c.2266-17C>A
NM_001283009.2(RTEL1):c.2266-17C>T
NM_001283009.2(RTEL1):c.2266-19C>T
NM_001283009.2(RTEL1):c.2266-20C>T rs1601171294
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2266-4G>A
NM_001283009.2(RTEL1):c.2266-6C>T
NM_001283009.2(RTEL1):c.2266-9G>A rs917815049
NM_001283009.2(RTEL1):c.2268G>A (p.Met756Ile)
NM_001283009.2(RTEL1):c.2269C>A (p.Pro757Thr) rs1348818075
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs) rs2145431569
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala) rs1601171438
NM_001283009.2(RTEL1):c.2276C>T (p.Pro759Leu)
NM_001283009.2(RTEL1):c.2280C>A (p.Ala760=)
NM_001283009.2(RTEL1):c.2281C>T (p.Pro761Ser)
NM_001283009.2(RTEL1):c.2283C>G (p.Pro761=)
NM_001283009.2(RTEL1):c.2283C>T (p.Pro761=) rs1447604348
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly) rs750251447
NM_001283009.2(RTEL1):c.2285G>A (p.Arg762Gln)
NM_001283009.2(RTEL1):c.2286G>C (p.Arg762=)
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.228G>T (p.Ala76=)
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile) rs767774517
NM_001283009.2(RTEL1):c.2292A>G (p.Thr764=) rs2090705028
NM_001283009.2(RTEL1):c.2295A>G (p.Ala765=)
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
NM_001283009.2(RTEL1):c.2297C>T (p.Pro766Leu)
NM_001283009.2(RTEL1):c.2298C>G (p.Pro766=)
NM_001283009.2(RTEL1):c.2304G>A (p.Val768=)
NM_001283009.2(RTEL1):c.2305C>T (p.Arg769Cys)
NM_001283009.2(RTEL1):c.2307T>C (p.Arg769=) rs2145431775
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2322C>T (p.Val774=) rs2145431842
NM_001283009.2(RTEL1):c.2323A>G (p.Ser775Gly)
NM_001283009.2(RTEL1):c.2326G>A (p.Glu776Lys)
NM_001283009.2(RTEL1):c.2326G>C (p.Glu776Gln) rs746677388
NM_001283009.2(RTEL1):c.2334G>C (p.Lys778Asn)
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2337G>C (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2343C>A (p.Gly781=) rs766185797
NM_001283009.2(RTEL1):c.2345C>T (p.Pro782Leu) rs764157833
NM_001283009.2(RTEL1):c.2346C>T (p.Pro782=) rs753928264
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2354C>G (p.Ser785Cys)
NM_001283009.2(RTEL1):c.2355C>T (p.Ser785=)
NM_001283009.2(RTEL1):c.2361G>A (p.Arg787=)
NM_001283009.2(RTEL1):c.2364A>G (p.Lys788=) rs2145432070
NM_001283009.2(RTEL1):c.2366C>G (p.Ala789Gly) rs2090707111
NM_001283009.2(RTEL1):c.2369A>G (p.Lys790Arg)
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=) rs553827008
NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)
NM_001283009.2(RTEL1):c.2373T>C (p.Ser791=) rs2145432121
NM_001283009.2(RTEL1):c.2376G>A (p.Leu792=) rs2090707327
NM_001283009.2(RTEL1):c.2377G>A (p.Asp793Asn)
NM_001283009.2(RTEL1):c.2377G>T (p.Asp793Tyr)
NM_001283009.2(RTEL1):c.2380C>T (p.Leu794=)
NM_001283009.2(RTEL1):c.2382G>A (p.Leu794=)
NM_001283009.2(RTEL1):c.2384A>G (p.His795Arg) rs2145432169
NM_001283009.2(RTEL1):c.2386G>C (p.Val796Leu)
NM_001283009.2(RTEL1):c.2387T>A (p.Val796Asp)
NM_001283009.2(RTEL1):c.2387del (p.Val796fs) rs2145432198
NM_001283009.2(RTEL1):c.2388C>T (p.Val796=)
NM_001283009.2(RTEL1):c.2391C>T (p.Pro797=)
NM_001283009.2(RTEL1):c.2393G>C (p.Ser798Thr)
NM_001283009.2(RTEL1):c.2394C>T (p.Ser798=) rs2145432222
NM_001283009.2(RTEL1):c.2395C>G (p.Leu799Val) rs1601171872
NM_001283009.2(RTEL1):c.2395C>T (p.Leu799=) rs1601171872
NM_001283009.2(RTEL1):c.2397G>A (p.Leu799=)
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2405G>A (p.Arg802Lys)
NM_001283009.2(RTEL1):c.2410T>C (p.Ser804Pro) rs2145432315
NM_001283009.2(RTEL1):c.2413+12C>T
NM_001283009.2(RTEL1):c.2413+18T>C
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2413+1G>T
NM_001283009.2(RTEL1):c.2413+22_2413+35dup
NM_001283009.2(RTEL1):c.2413+4C>G
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.2413+7A>C
NM_001283009.2(RTEL1):c.2414-10G>T
NM_001283009.2(RTEL1):c.2414-18A>G
NM_001283009.2(RTEL1):c.2414-4G>T rs2145434270
NM_001283009.2(RTEL1):c.2414-5T>C
NM_001283009.2(RTEL1):c.2414-6C>G
NM_001283009.2(RTEL1):c.2414-7C>T rs2090721076
NM_001283009.2(RTEL1):c.2414-8C>T rs1177086266
NM_001283009.2(RTEL1):c.2414-9C>A
NM_001283009.2(RTEL1):c.2415G>T (p.Gly805=)
NM_001283009.2(RTEL1):c.2417C>T (p.Ser806Leu)
NM_001283009.2(RTEL1):c.2421A>G (p.Pro807=)
NM_001283009.2(RTEL1):c.2428G>C (p.Gly810Arg)
NM_001283009.2(RTEL1):c.2430G>A (p.Gly810=) rs760225851
NM_001283009.2(RTEL1):c.2431G>A (p.Asp811Asn)
NM_001283009.2(RTEL1):c.2431G>T (p.Asp811Tyr)
NM_001283009.2(RTEL1):c.2433C>T (p.Asp811=)
NM_001283009.2(RTEL1):c.2434C>A (p.Pro812Thr) rs1601173488
NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)
NM_001283009.2(RTEL1):c.2436C>G (p.Pro812=)
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2439G>A (p.Glu813=)
NM_001283009.2(RTEL1):c.2441G>C (p.Ser814Thr)
NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)
NM_001283009.2(RTEL1):c.2446C>G (p.Leu816Val) rs2145434398
NM_001283009.2(RTEL1):c.2449T>C (p.Cys817Arg)
NM_001283009.2(RTEL1):c.2450G>A (p.Cys817Tyr)
NM_001283009.2(RTEL1):c.2451T>C (p.Cys817=)
NM_001283009.2(RTEL1):c.2454G>A (p.Val818=) rs1568713512
NM_001283009.2(RTEL1):c.2458_2459insTCA (p.Tyr820delinsPheAsn) rs1254325984
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) rs2090722556
NM_001283009.2(RTEL1):c.2466G>A (p.Gln822=)
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
NM_001283009.2(RTEL1):c.2469G>A (p.Glu823=) rs1370303496
NM_001283009.2(RTEL1):c.2469G>T (p.Glu823Asp)
NM_001283009.2(RTEL1):c.2471C>A (p.Pro824Gln) rs769874593
NM_001283009.2(RTEL1):c.2472A>C (p.Pro824=)
NM_001283009.2(RTEL1):c.2475T>C (p.Val825=)
NM_001283009.2(RTEL1):c.2476C>T (p.Pro826Ser)
NM_001283009.2(RTEL1):c.2480C>T (p.Ala827Val)
NM_001283009.2(RTEL1):c.2482C>T (p.Arg828Trp)
NM_001283009.2(RTEL1):c.2484G>T (p.Arg828=)
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) rs1278121916
NM_001283009.2(RTEL1):c.2487G>A (p.Gln829=)
NM_001283009.2(RTEL1):c.2493C>T (p.Pro831=)
NM_001283009.2(RTEL1):c.2496G>A (p.Arg832=)
NM_001283009.2(RTEL1):c.2503C>T (p.Leu835=)
NM_001283009.2(RTEL1):c.2505G>A (p.Leu835=)
NM_001283009.2(RTEL1):c.2508C>A (p.Ala836=) rs147245368
NM_001283009.2(RTEL1):c.2508C>G (p.Ala836=)
NM_001283009.2(RTEL1):c.2509G>T (p.Ala837Ser)
NM_001283009.2(RTEL1):c.2510C>T (p.Ala837Val)
NM_001283009.2(RTEL1):c.2512C>T (p.Leu838=) rs996529824
NM_001283009.2(RTEL1):c.251G>A (p.Arg84Gln)
NM_001283009.2(RTEL1):c.251G>C (p.Arg84Pro)
NM_001283009.2(RTEL1):c.2520C>T (p.His840=) rs1299433246
NM_001283009.2(RTEL1):c.2524G>A (p.Glu842Lys)
NM_001283009.2(RTEL1):c.2526A>C (p.Glu842Asp) rs2145434771
NM_001283009.2(RTEL1):c.2528A>G (p.Gln843Arg) rs2090724190
NM_001283009.2(RTEL1):c.2532G>A (p.Arg844=) rs1467466353
NM_001283009.2(RTEL1):c.2535G>C (p.Ala845=)
NM_001283009.2(RTEL1):c.2538G>A (p.Gly846=)
NM_001283009.2(RTEL1):c.253G>A (p.Ala85Thr)
NM_001283009.2(RTEL1):c.2540G>A (p.Ser847Asn) rs545991923
NM_001283009.2(RTEL1):c.2544T>A (p.Pro848=)
NM_001283009.2(RTEL1):c.2544_2545delinsCC (p.Gly849Arg) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545delinsCT (p.Gly849Cys) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545inv (p.Gly849Ser)
NM_001283009.2(RTEL1):c.2547C>G (p.Gly849=)
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2556+10C>G
NM_001283009.2(RTEL1):c.2556+10C>T
NM_001283009.2(RTEL1):c.2556+15C>T
NM_001283009.2(RTEL1):c.2556+16C>T
NM_001283009.2(RTEL1):c.2556+5A>G
NM_001283009.2(RTEL1):c.2556+9C>G
NM_001283009.2(RTEL1):c.2557-10T>G
NM_001283009.2(RTEL1):c.2557-13G>T
NM_001283009.2(RTEL1):c.2557-15C>G
NM_001283009.2(RTEL1):c.2557-16G>A
NM_001283009.2(RTEL1):c.2557-19_2557-6del
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-26_2557-10del rs909213282
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2557-5_2557-3del rs1279921309
NM_001283009.2(RTEL1):c.2557-89G>C rs2236507
NM_001283009.2(RTEL1):c.2557-8C>T rs200385247
NM_001283009.2(RTEL1):c.2559C>G (p.Ala853=)
NM_001283009.2(RTEL1):c.2560C>G (p.His854Asp) rs780005986
NM_001283009.2(RTEL1):c.2567G>A (p.Cys856Tyr)
NM_001283009.2(RTEL1):c.2570C>T (p.Ser857Phe)
NM_001283009.2(RTEL1):c.2571C>T (p.Ser857=) rs2090750852
NM_001283009.2(RTEL1):c.2574C>G (p.Thr858=) rs2145439077
NM_001283009.2(RTEL1):c.2574C>T (p.Thr858=)
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
NM_001283009.2(RTEL1):c.2576T>C (p.Leu859Pro)
NM_001283009.2(RTEL1):c.2577G>C (p.Leu859=)
NM_001283009.2(RTEL1):c.2583C>G (p.Leu861=) rs371578010
NM_001283009.2(RTEL1):c.2584C>T (p.Leu862=) rs375344250
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs) rs2145439154
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg) rs765909720
NM_001283009.2(RTEL1):c.2586G>A (p.Leu862=) rs376383608
NM_001283009.2(RTEL1):c.2586G>C (p.Leu862=) rs376383608
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2591A>C (p.Glu864Ala) rs2145439184
NM_001283009.2(RTEL1):c.2596A>C (p.Arg866=) rs2145439189
NM_001283009.2(RTEL1):c.2598G>A (p.Arg866=) rs2145439204
NM_001283009.2(RTEL1):c.259T>C (p.Ser87Pro)
NM_001283009.2(RTEL1):c.2600C>G (p.Pro867Arg)
NM_001283009.2(RTEL1):c.2601G>C (p.Pro867=)
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2613G>C (p.Pro871=)
NM_001283009.2(RTEL1):c.2613G>T (p.Pro871=) rs758611174
NM_001283009.2(RTEL1):c.2615G>A (p.Arg872Gln)
NM_001283009.2(RTEL1):c.2616AGG[1] (p.Gly874del)
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2618G>A (p.Gly873Glu)
NM_001283009.2(RTEL1):c.261A>C (p.Ser87=)
NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)
NM_001283009.2(RTEL1):c.2622G>T (p.Gly874=)
NM_001283009.2(RTEL1):c.2625G>A (p.Arg875=) rs1601177031
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001283009.2(RTEL1):c.2628G>A (p.Lys876=)
NM_001283009.2(RTEL1):c.2634C>G (p.Ile878Met)
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2636G>A (p.Arg879Gln) rs770539835
NM_001283009.2(RTEL1):c.2636G>C (p.Arg879Pro) rs770539835
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.2638C>T (p.Leu880=)
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe) rs758172246
NM_001283009.2(RTEL1):c.2643C>T (p.Val881=)
NM_001283009.2(RTEL1):c.2645G>A (p.Ser882Asn)
NM_001283009.2(RTEL1):c.2651C>G (p.Pro884Arg)
NM_001283009.2(RTEL1):c.2652+13T>A
NM_001283009.2(RTEL1):c.2652+13T>G
NM_001283009.2(RTEL1):c.2652+13_2652+18del rs758744004
NM_001283009.2(RTEL1):c.2652+14C>A
NM_001283009.2(RTEL1):c.2652+15C>G
NM_001283009.2(RTEL1):c.2652+16C>T
NM_001283009.2(RTEL1):c.2652+18G>A
NM_001283009.2(RTEL1):c.2652+19C>A
NM_001283009.2(RTEL1):c.2652+20A>C
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2652+8A>C
NM_001283009.2(RTEL1):c.2653-11G>C
NM_001283009.2(RTEL1):c.2653-12T>C
NM_001283009.2(RTEL1):c.2653-13C>T
NM_001283009.2(RTEL1):c.2653-14C>G
NM_001283009.2(RTEL1):c.2653-16G>T
NM_001283009.2(RTEL1):c.2653-17G>C
NM_001283009.2(RTEL1):c.2653-18C>G
NM_001283009.2(RTEL1):c.2653-20C>G rs776381697
NM_001283009.2(RTEL1):c.2653-33_2653-11del
NM_001283009.2(RTEL1):c.2653-6C>G
NM_001283009.2(RTEL1):c.2653-6C>T rs1601181865
NM_001283009.2(RTEL1):c.2653-7C>G rs1472538837
NM_001283009.2(RTEL1):c.2653-7C>T rs1472538837
NM_001283009.2(RTEL1):c.2653-9G>A
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln) rs2090784564
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter) rs2090784564
NM_001283009.2(RTEL1):c.2654A>G (p.Glu885Gly)
NM_001283009.2(RTEL1):c.2658G>A (p.Glu886=) rs775722854
NM_001283009.2(RTEL1):c.2658G>T (p.Glu886Asp)
NM_001283009.2(RTEL1):c.2659C>T (p.Pro887Ser) rs1399014030
NM_001283009.2(RTEL1):c.265T>C (p.Trp89Arg) rs2090019014
NM_001283009.2(RTEL1):c.2660C>T (p.Pro887Leu) rs1568717000
NM_001283009.2(RTEL1):c.2661C>A (p.Pro887=) rs3848671
NM_001283009.2(RTEL1):c.2661C>G (p.Pro887=) rs3848671
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.2663T>G (p.Val888Gly)
NM_001283009.2(RTEL1):c.2665G>C (p.Ala889Pro)
NM_001283009.2(RTEL1):c.2670T>C (p.Gly890=) rs750863266
NM_001283009.2(RTEL1):c.2670T>G (p.Gly890=)
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs) rs2145445706
NM_001283009.2(RTEL1):c.2673A>G (p.Ala891=)
NM_001283009.2(RTEL1):c.2679G>C (p.Thr893=) rs754389601
NM_001283009.2(RTEL1):c.2679G>T (p.Thr893=) rs754389601
NM_001283009.2(RTEL1):c.2682C>G (p.Asp894Glu) rs535831345
NM_001283009.2(RTEL1):c.2682C>T (p.Asp894=)
NM_001283009.2(RTEL1):c.2683A>G (p.Arg895Gly) rs2090785759
NM_001283009.2(RTEL1):c.2683A>T (p.Arg895Trp)
NM_001283009.2(RTEL1):c.2684G>A (p.Arg895Lys) rs150564915
NM_001283009.2(RTEL1):c.2684G>C (p.Arg895Thr)
NM_001283009.2(RTEL1):c.2686G>A (p.Ala896Thr)
NM_001283009.2(RTEL1):c.2688C>G (p.Ala896=)
NM_001283009.2(RTEL1):c.2688C>T (p.Ala896=)
NM_001283009.2(RTEL1):c.2690A>G (p.Lys897Arg)
NM_001283009.2(RTEL1):c.2694C>A (p.Leu898=)
NM_001283009.2(RTEL1):c.2694C>T (p.Leu898=)
NM_001283009.2(RTEL1):c.2697C>T (p.Phe899=)
NM_001283009.2(RTEL1):c.2698A>C (p.Met900Leu) rs749041304
NM_001283009.2(RTEL1):c.2699T>G (p.Met900Arg)
NM_001283009.2(RTEL1):c.2706C>G (p.Ala902=) rs116788553
NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
NM_001283009.2(RTEL1):c.2714A>C (p.Gln905Pro) rs2090786703
NM_001283009.2(RTEL1):c.2715G>A (p.Gln905=) rs1278177922
NM_001283009.2(RTEL1):c.2715G>C (p.Gln905His) rs1278177922
NM_001283009.2(RTEL1):c.2718G>A (p.Glu906=) rs765888621
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
NM_001283009.2(RTEL1):c.271A>G (p.Asn91Asp)
NM_001283009.2(RTEL1):c.2722A>G (p.Ser908Gly) rs2090787000
NM_001283009.2(RTEL1):c.2724C>T (p.Ser908=)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2726A>C (p.Gln909Pro)
NM_001283009.2(RTEL1):c.2727A>G (p.Gln909=) rs2145446108
NM_001283009.2(RTEL1):c.2729C>T (p.Ala910Val)
NM_001283009.2(RTEL1):c.272A>G (p.Asn91Ser) rs941773443
NM_001283009.2(RTEL1):c.272A>T (p.Asn91Ile)
NM_001283009.2(RTEL1):c.2730C>A (p.Ala910=)
NM_001283009.2(RTEL1):c.2730C>T (p.Ala910=) rs1200841323
NM_001283009.2(RTEL1):c.2732A>G (p.Asn911Ser)
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys) rs372027131
NM_001283009.2(RTEL1):c.2733C>T (p.Asn911=) rs372027131
NM_001283009.2(RTEL1):c.2734T>C (p.Phe912Leu)
NM_001283009.2(RTEL1):c.2736T>C (p.Phe912=) rs755652402
NM_001283009.2(RTEL1):c.2739C>T (p.Ala913=) rs1601182369
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=) rs779793496
NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)
NM_001283009.2(RTEL1):c.2742C>A (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2742C>G (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2742C>T (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2745C>G (p.Phe915Leu) rs1376717154
NM_001283009.2(RTEL1):c.2745C>T (p.Phe915=) rs1376717154
NM_001283009.2(RTEL1):c.2746A>T (p.Thr916Ser)
NM_001283009.2(RTEL1):c.2747C>G (p.Thr916Ser)
NM_001283009.2(RTEL1):c.2748C>G (p.Thr916=)
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr) rs1404412328
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2754C>G (p.Ala918=) rs201754938
NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)
NM_001283009.2(RTEL1):c.2755C>T (p.Leu919=)
NM_001283009.2(RTEL1):c.2757G>A (p.Leu919=) rs1384223139
NM_001283009.2(RTEL1):c.2757G>T (p.Leu919=) rs1384223139
NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg) rs2090788449
NM_001283009.2(RTEL1):c.275CTG[7] (p.Ala95_Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2760G>A (p.Gln920=) rs1330703717
NM_001283009.2(RTEL1):c.2762A>G (p.Asp921Gly)
NM_001283009.2(RTEL1):c.2766C>T (p.Tyr922=) rs1216056013
NM_001283009.2(RTEL1):c.2771G>A (p.Gly924Asp)
NM_001283009.2(RTEL1):c.2774C>A (p.Ser925Tyr)
NM_001283009.2(RTEL1):c.2774C>G (p.Ser925Cys) rs770018942
NM_001283009.2(RTEL1):c.2774C>T (p.Ser925Phe)
NM_001283009.2(RTEL1):c.2778T>C (p.Asp926=)
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
NM_001283009.2(RTEL1):c.277G>A (p.Ala93Thr) rs2146149148
NM_001283009.2(RTEL1):c.2781C>T (p.Asp927=) rs767158073
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
NM_001283009.2(RTEL1):c.2784C>T (p.Phe928=) rs3848672
NM_001283009.2(RTEL1):c.2784_2785delinsTA (p.Ala929Thr) rs1601182623
NM_001283009.2(RTEL1):c.2784_2785delinsTC (p.Ala929Pro)
NM_001283009.2(RTEL1):c.2787C>A (p.Ala929=)
NM_001283009.2(RTEL1):c.2788G>C (p.Ala930Pro) rs371721039
NM_001283009.2(RTEL1):c.2790C>T (p.Ala930=)
NM_001283009.2(RTEL1):c.2791C>T (p.Leu931=) rs2145446620
NM_001283009.2(RTEL1):c.2793G>A (p.Leu931=)
NM_001283009.2(RTEL1):c.2796C>A (p.Ala932=)
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr) rs781430438
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2799C>A (p.Ala933=)
NM_001283009.2(RTEL1):c.2799C>G (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser) rs1263651818
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2802T>C (p.Cys934=)
NM_001283009.2(RTEL1):c.2806G>A (p.Gly936Ser)
NM_001283009.2(RTEL1):c.2808C>T (p.Gly936=) rs774750824
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_001283009.2(RTEL1):c.2810C>G (p.Pro937Arg)
NM_001283009.2(RTEL1):c.2811C>A (p.Pro937=) rs1181105745
NM_001283009.2(RTEL1):c.2811C>G (p.Pro937=)
NM_001283009.2(RTEL1):c.2812C>G (p.Leu938Val)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)
NM_001283009.2(RTEL1):c.2814C>G (p.Leu938=)
NM_001283009.2(RTEL1):c.2814C>T (p.Leu938=)
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
NM_001283009.2(RTEL1):c.2821G>A (p.Glu941Lys)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2822A>C (p.Glu941Ala)
NM_001283009.2(RTEL1):c.2823G>A (p.Glu941=)
NM_001283009.2(RTEL1):c.2825A>G (p.Asp942Gly)
NM_001283009.2(RTEL1):c.2826C>T (p.Asp942=)
NM_001283009.2(RTEL1):c.2827C>T (p.Pro943Ser)
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg) rs142969505
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2829C>A (p.Pro943=)
NM_001283009.2(RTEL1):c.2829C>T (p.Pro943=) rs774862674
NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)
NM_001283009.2(RTEL1):c.2831A>G (p.Lys944Arg)
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=) rs147040733
NM_001283009.2(RTEL1):c.2832G>C (p.Lys944Asn)
NM_001283009.2(RTEL1):c.2833A>G (p.Lys945Glu)
NM_001283009.2(RTEL1):c.2836C>T (p.His946Tyr) rs1375502785
NM_001283009.2(RTEL1):c.2839A>C (p.Asn947His)
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser) rs761268803
NM_001283009.2(RTEL1):c.2844G>A (p.Leu948=) rs758337310
NM_001283009.2(RTEL1):c.2844G>C (p.Leu948=) rs758337310
NM_001283009.2(RTEL1):c.2847C>A (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2847C>G (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2847C>T (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2849A>G (p.Gln950Arg) rs2145447147
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) rs2090792717
NM_001283009.2(RTEL1):c.2851+10C>G
NM_001283009.2(RTEL1):c.2851+10C>T
NM_001283009.2(RTEL1):c.2851+11T>C rs2090793329
NM_001283009.2(RTEL1):c.2851+12T>G
NM_001283009.2(RTEL1):c.2851+15A>G rs2145447308
NM_001283009.2(RTEL1):c.2851+16G>C rs757293061
NM_001283009.2(RTEL1):c.2851+18G>C
NM_001283009.2(RTEL1):c.2851+19G>A
NM_001283009.2(RTEL1):c.2851+19G>T rs373177624
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2851+20C>G
NM_001283009.2(RTEL1):c.2851+20C>T
NM_001283009.2(RTEL1):c.2851+22_2851+45dup
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2851+5C>T
NM_001283009.2(RTEL1):c.2851+6C>G rs1601183088
NM_001283009.2(RTEL1):c.2851+7T>C
NM_001283009.2(RTEL1):c.2851+7T>G
NM_001283009.2(RTEL1):c.2851+7_2851+18delinsCAA
NM_001283009.2(RTEL1):c.2852-12C>A
NM_001283009.2(RTEL1):c.2852-12C>G
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2852-12del
NM_001283009.2(RTEL1):c.2852-13C>G rs770559649
NM_001283009.2(RTEL1):c.2852-13C>T
NM_001283009.2(RTEL1):c.2852-17C>A
NM_001283009.2(RTEL1):c.2852-18A>C
NM_001283009.2(RTEL1):c.2852-18A>G
NM_001283009.2(RTEL1):c.2852-19G>A
NM_001283009.2(RTEL1):c.2852-19G>C
NM_001283009.2(RTEL1):c.2852-19G>T
NM_001283009.2(RTEL1):c.2852-20A>C
NM_001283009.2(RTEL1):c.2852-20A>G
NM_001283009.2(RTEL1):c.2852-3C>T
NM_001283009.2(RTEL1):c.2852-5T>C rs1601184089
NM_001283009.2(RTEL1):c.2852-6C>T rs1179686618
NM_001283009.2(RTEL1):c.2852-8C>A rs1385275802
NM_001283009.2(RTEL1):c.2852-8C>T rs1385275802
NM_001283009.2(RTEL1):c.2852G>C (p.Gly951Ala) rs925928624
NM_001283009.2(RTEL1):c.2853C>A (p.Gly951=) rs763959402
NM_001283009.2(RTEL1):c.2853C>T (p.Gly951=)
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu) rs1601184120
NM_001283009.2(RTEL1):c.2856C>T (p.Phe952=) rs1041575386
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
NM_001283009.2(RTEL1):c.2859C>T (p.Tyr953=) rs1601184152
NM_001283009.2(RTEL1):c.285T>C (p.Ala95=)
NM_001283009.2(RTEL1):c.2860C>A (p.Gln954Lys) rs1159070520
NM_001283009.2(RTEL1):c.2860C>G (p.Gln954Glu)
NM_001283009.2(RTEL1):c.2861A>G (p.Gln954Arg)
NM_001283009.2(RTEL1):c.2862G>A (p.Gln954=) rs2090803221
NM_001283009.2(RTEL1):c.2865T>C (p.Phe955=)
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2870G>C (p.Arg957Pro)
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=) rs1282351226
NM_001283009.2(RTEL1):c.2874C>G (p.Pro958=)
NM_001283009.2(RTEL1):c.2874C>T (p.Pro958=) rs369953611
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.2877C>T (p.His959=) rs373996455
NM_001283009.2(RTEL1):c.287C>G (p.Ala96Gly)
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2882A>G (p.Lys961Arg) rs2145448755
NM_001283009.2(RTEL1):c.2884C>A (p.Gln962Lys)
NM_001283009.2(RTEL1):c.2884C>G (p.Gln962Glu)
NM_001283009.2(RTEL1):c.2886G>A (p.Gln962=) rs757018726
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
NM_001283009.2(RTEL1):c.2889G>A (p.Gln963=) rs1274218203
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2895G>A (p.Glu965=)
NM_001283009.2(RTEL1):c.2895G>C (p.Glu965Asp) rs745327960
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2899G>A (p.Val967Ile)
NM_001283009.2(RTEL1):c.2901C>T (p.Val967=) rs1437204344
NM_001283009.2(RTEL1):c.2904T>C (p.Cys968=) rs1474203821
NM_001283009.2(RTEL1):c.2905A>G (p.Ile969Val)
NM_001283009.2(RTEL1):c.2907C>T (p.Ile969=)
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg) rs2090804992
NM_001283009.2(RTEL1):c.2909A>T (p.Gln970Leu) rs2090804992
NM_001283009.2(RTEL1):c.2910G>A (p.Gln970=) rs766629738
NM_001283009.2(RTEL1):c.2910G>C (p.Gln970His)
NM_001283009.2(RTEL1):c.2913G>A (p.Leu971=) rs2090805160
NM_001283009.2(RTEL1):c.2913G>C (p.Leu971=)
NM_001283009.2(RTEL1):c.2915C>A (p.Thr972Lys) rs199834369
NM_001283009.2(RTEL1):c.2916A>G (p.Thr972=) rs2090805293
NM_001283009.2(RTEL1):c.2917G>A (p.Gly973Arg)
NM_001283009.2(RTEL1):c.2918G>A (p.Gly973Glu) rs2145448980
NM_001283009.2(RTEL1):c.2920C>A (p.Arg974=) rs398123017
NM_001283009.2(RTEL1):c.2921G>C (p.Arg974Pro)
NM_001283009.2(RTEL1):c.2922A>C (p.Arg974=) rs2145449025
NM_001283009.2(RTEL1):c.2922A>G (p.Arg974=) rs2145449025
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala) rs757725471
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
NM_001283009.2(RTEL1):c.2925C>A (p.Gly975=) rs2090805771
NM_001283009.2(RTEL1):c.2925C>G (p.Gly975=)
NM_001283009.2(RTEL1):c.2928T>C (p.Cys976=) rs2145449075
NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2931C>A (p.Gly977=) rs2090805930
NM_001283009.2(RTEL1):c.2931C>G (p.Gly977=) rs2090805930
NM_001283009.2(RTEL1):c.2931C>T (p.Gly977=)
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys) rs750109305
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
NM_001283009.2(RTEL1):c.2935C>A (p.Arg979=) rs144034326
NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)
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.2940T>G (p.Pro980=) rs141618172
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
NM_001283009.2(RTEL1):c.2941G>A (p.Glu981Lys)
NM_001283009.2(RTEL1):c.2943G>A (p.Glu981=)
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
NM_001283009.2(RTEL1):c.2945A>G (p.His982Arg)
NM_001283009.2(RTEL1):c.2947A>G (p.Ser983Gly)
NM_001283009.2(RTEL1):c.2948G>A (p.Ser983Asn)
NM_001283009.2(RTEL1):c.2948G>C (p.Ser983Thr)
NM_001283009.2(RTEL1):c.2949C>T (p.Ser983=)
NM_001283009.2(RTEL1):c.294C>T (p.Asp98=) rs2146149184
NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)
NM_001283009.2(RTEL1):c.2953C>A (p.Pro985Thr) rs772031890
NM_001283009.2(RTEL1):c.2954C>A (p.Pro985His) rs1462195263
NM_001283009.2(RTEL1):c.2955C>G (p.Pro985=) rs2090808224
NM_001283009.2(RTEL1):c.2956C>A (p.Arg986=)
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2957G>T (p.Arg986Leu)
NM_001283009.2(RTEL1):c.2958A>G (p.Arg986=)
NM_001283009.2(RTEL1):c.2964G>A (p.Gln988=) rs1380817783
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
NM_001283009.2(RTEL1):c.2966G>C (p.Arg989Pro)
NM_001283009.2(RTEL1):c.2967G>A (p.Arg989=) rs2090809210
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr) rs751124641
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val) rs370171864
NM_001283009.2(RTEL1):c.2970A>T (p.Ala990=)
NM_001283009.2(RTEL1):c.2971_2972delinsAG (p.Gln991Arg)
NM_001283009.2(RTEL1):c.2973G>A (p.Gln991=) rs748092893
NM_001283009.2(RTEL1):c.2973G>C (p.Gln991His)
NM_001283009.2(RTEL1):c.2974C>T (p.Pro992Ser)
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.2976G>C (p.Pro992=) rs373347391
NM_001283009.2(RTEL1):c.2979C>T (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.2981T>C (p.Leu994Pro) rs1453207384
NM_001283009.2(RTEL1):c.2982G>A (p.Leu994=)
NM_001283009.2(RTEL1):c.2982G>C (p.Leu994=) rs1187112291
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn) rs202020298
NM_001283009.2(RTEL1):c.2983G>C (p.Asp995His)
NM_001283009.2(RTEL1):c.2983G>T (p.Asp995Tyr)
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2985C>T (p.Asp995=) rs762474261
NM_001283009.2(RTEL1):c.2987C>G (p.Pro996Arg) rs373210484
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu) rs373210484
NM_001283009.2(RTEL1):c.2988C>A (p.Pro996=) rs150932919
NM_001283009.2(RTEL1):c.2988C>G (p.Pro996=) rs150932919
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser) rs1046295138
NM_001283009.2(RTEL1):c.2991T>C (p.Thr997=) rs2145449639
NM_001283009.2(RTEL1):c.2992+11C>A
NM_001283009.2(RTEL1):c.2992+12C>G
NM_001283009.2(RTEL1):c.2992+12C>T rs780261597
NM_001283009.2(RTEL1):c.2992+13C>A
NM_001283009.2(RTEL1):c.2992+13C>G rs200323578
NM_001283009.2(RTEL1):c.2992+13C>T
NM_001283009.2(RTEL1):c.2992+13_2992+14dup
NM_001283009.2(RTEL1):c.2992+14C>G rs776911718
NM_001283009.2(RTEL1):c.2992+14C>T rs776911718
NM_001283009.2(RTEL1):c.2992+16G>A
NM_001283009.2(RTEL1):c.2992+16G>C
NM_001283009.2(RTEL1):c.2992+17G>T
NM_001283009.2(RTEL1):c.2992+17del rs2090812191
NM_001283009.2(RTEL1):c.2992+18T>A rs773890709
NM_001283009.2(RTEL1):c.2992+19G>A
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+20G>C rs763328897
NM_001283009.2(RTEL1):c.2992+20G>T
NM_001283009.2(RTEL1):c.2992+2T>A
NM_001283009.2(RTEL1):c.2992+492_3068del
NM_001283009.2(RTEL1):c.2992+4A>C
NM_001283009.2(RTEL1):c.2992+6T>C
NM_001283009.2(RTEL1):c.2992+8G>A rs1236751268
NM_001283009.2(RTEL1):c.2992+8G>C
NM_001283009.2(RTEL1):c.2993-11C>G
NM_001283009.2(RTEL1):c.2993-13A>G
NM_001283009.2(RTEL1):c.2993-15A>G
NM_001283009.2(RTEL1):c.2993-19C>T
NM_001283009.2(RTEL1):c.2993-3C>T
NM_001283009.2(RTEL1):c.2993-5A>T
NM_001283009.2(RTEL1):c.2993-6C>A
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.2993-9C>G rs1345171159
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
NM_001283009.2(RTEL1):c.2996G>A (p.Arg999Lys)
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
NM_001283009.2(RTEL1):c.3005C>G (p.Pro1002Arg) rs767735975
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_001283009.2(RTEL1):c.3006G>C (p.Pro1002=) rs201351158
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala) rs2090912360
NM_001283009.2(RTEL1):c.301+13C>A
NM_001283009.2(RTEL1):c.301+13C>G
NM_001283009.2(RTEL1):c.301+13C>T
NM_001283009.2(RTEL1):c.301+14C>T
NM_001283009.2(RTEL1):c.301+1G>A rs2146149228
NM_001283009.2(RTEL1):c.301+20C>T rs1433016279
NM_001283009.2(RTEL1):c.301+3G>A
NM_001283009.2(RTEL1):c.301+5C>T
NM_001283009.2(RTEL1):c.301+8T>G
NM_001283009.2(RTEL1):c.301+9A>C
NM_001283009.2(RTEL1):c.3010C>G (p.Pro1004Ala)
NM_001283009.2(RTEL1):c.3014A>G (p.Lys1005Arg)
NM_001283009.2(RTEL1):c.3015G>A (p.Lys1005=) rs1278233275
NM_001283009.2(RTEL1):c.3018G>A (p.Leu1006=)
NM_001283009.2(RTEL1):c.302-10G>A rs1192142043
NM_001283009.2(RTEL1):c.302-15_302-12del
NM_001283009.2(RTEL1):c.302-19C>A
NM_001283009.2(RTEL1):c.302-20G>C
NM_001283009.2(RTEL1):c.302-6G>C
NM_001283009.2(RTEL1):c.302-8C>T
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile) rs776712596
NM_001283009.2(RTEL1):c.3021C>G (p.Thr1007=)
NM_001283009.2(RTEL1):c.3022G>C (p.Val1008Leu)
NM_001283009.2(RTEL1):c.3024G>C (p.Val1008=) rs2090912920
NM_001283009.2(RTEL1):c.3024G>T (p.Val1008=)
NM_001283009.2(RTEL1):c.3027C>T (p.Ser1009=) rs2145470954
NM_001283009.2(RTEL1):c.3028A>C (p.Thr1010Pro) rs2145470968
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met) rs750539539
NM_001283009.2(RTEL1):c.3031G>A (p.Ala1011Thr)
NM_001283009.2(RTEL1):c.3033T>C (p.Ala1011=) rs574653429
NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)
NM_001283009.2(RTEL1):c.3034G>T (p.Ala1012Ser)
NM_001283009.2(RTEL1):c.3035C>A (p.Ala1012Glu)
NM_001283009.2(RTEL1):c.3039C>G (p.Ala1013=)
NM_001283009.2(RTEL1):c.303T>C (p.Ala101=) rs2146150593
NM_001283009.2(RTEL1):c.3042G>A (p.Gln1014=) rs1601194512
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter) rs777109448
NM_001283009.2(RTEL1):c.3044A>G (p.Gln1015Arg)
NM_001283009.2(RTEL1):c.3045G>A (p.Gln1015=)
NM_001283009.2(RTEL1):c.3045G>C (p.Gln1015His) rs2145471144
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=) rs1601194528
NM_001283009.2(RTEL1):c.3049G>C (p.Asp1017His) rs61736617
NM_001283009.2(RTEL1):c.304T>C (p.Cys102Arg)
NM_001283009.2(RTEL1):c.3055C>G (p.Gln1019Glu) rs1435090971
NM_001283009.2(RTEL1):c.3058G>C (p.Glu1020Gln)
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3059A>G (p.Glu1020Gly) rs2090914407
NM_001283009.2(RTEL1):c.3060G>A (p.Glu1020=)
NM_001283009.2(RTEL1):c.3060G>C (p.Glu1020Asp)
NM_001283009.2(RTEL1):c.3062A>T (p.His1021Leu) rs1345368614
NM_001283009.2(RTEL1):c.3063C>T (p.His1021=)
NM_001283009.2(RTEL1):c.3066G>A (p.Leu1022=) rs2145471357
NM_001283009.2(RTEL1):c.3069C>G (p.Asn1023Lys) rs773448494
NM_001283009.2(RTEL1):c.3069C>T (p.Asn1023=)
NM_001283009.2(RTEL1):c.306C>T (p.Cys102=)
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs) rs2145471381
NM_001283009.2(RTEL1):c.3075C>A (p.Gly1025=)
NM_001283009.2(RTEL1):c.3077G>T (p.Arg1026Met) rs1448735633
NM_001283009.2(RTEL1):c.3078G>A (p.Arg1026=)
NM_001283009.2(RTEL1):c.3079C>T (p.Pro1027Ser) rs2090915113
NM_001283009.2(RTEL1):c.307T>C (p.Tyr103His)
NM_001283009.2(RTEL1):c.3081C>T (p.Pro1027=) rs1601194720
NM_001283009.2(RTEL1):c.3083A>C (p.His1028Pro)
NM_001283009.2(RTEL1):c.3085C>T (p.Leu1029=)
NM_001283009.2(RTEL1):c.3087G>T (p.Leu1029=)
NM_001283009.2(RTEL1):c.3089C>G (p.Ser1030Trp) rs756579704
NM_001283009.2(RTEL1):c.3090G>T (p.Ser1030=)
NM_001283009.2(RTEL1):c.3091C>T (p.Pro1031Ser) rs912272913
NM_001283009.2(RTEL1):c.3092C>T (p.Pro1031Leu)
NM_001283009.2(RTEL1):c.3093C>T (p.Pro1031=) rs756822666
NM_001283009.2(RTEL1):c.3096G>A (p.Arg1032=) rs1340574679
NM_001283009.2(RTEL1):c.309C>T (p.Tyr103=) rs2146150632
NM_001283009.2(RTEL1):c.3100C>T (p.Pro1034Ser)
NM_001283009.2(RTEL1):c.3104C>G (p.Pro1035Arg)
NM_001283009.2(RTEL1):c.3109+14G>T
NM_001283009.2(RTEL1):c.3109+18C>T
NM_001283009.2(RTEL1):c.3109+19G>C
NM_001283009.2(RTEL1):c.3109+1G>T
NM_001283009.2(RTEL1):c.3109+2T>C
NM_001283009.2(RTEL1):c.3109+2T>G
NM_001283009.2(RTEL1):c.3109+5C>G
NM_001283009.2(RTEL1):c.3109+9C>G
NM_001283009.2(RTEL1):c.3110-10C>G rs2090927100
NM_001283009.2(RTEL1):c.3110-13A>G
NM_001283009.2(RTEL1):c.3110-15C>T
NM_001283009.2(RTEL1):c.3110-16G>C
NM_001283009.2(RTEL1):c.3110-18A>G
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3110-4C>T rs1417877726
NM_001283009.2(RTEL1):c.3110-6C>A
NM_001283009.2(RTEL1):c.3110-8C>A
NM_001283009.2(RTEL1):c.3110-9C>G
NM_001283009.2(RTEL1):c.3110-9C>T rs780938637
NM_001283009.2(RTEL1):c.3110G>A (p.Gly1037Glu)
NM_001283009.2(RTEL1):c.3114C>A (p.Asp1038Glu) rs746139882
NM_001283009.2(RTEL1):c.3114C>T (p.Asp1038=) rs746139882
NM_001283009.2(RTEL1):c.3116C>G (p.Pro1039Arg)
NM_001283009.2(RTEL1):c.3118G>T (p.Gly1040Cys)
NM_001283009.2(RTEL1):c.3119G>T (p.Gly1040Val)
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys) rs367809459
NM_001283009.2(RTEL1):c.3123C>T (p.Ser1041=)
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter) rs929898540
NM_001283009.2(RTEL1):c.3129A>C (p.Pro1043=) rs199578945
NM_001283009.2(RTEL1):c.3129A>T (p.Pro1043=)
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=) rs1348086708
NM_001283009.2(RTEL1):c.3131A>G (p.Gln1044Arg) rs1350870028
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3138G>T (p.Gly1046=)
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
NM_001283009.2(RTEL1):c.3147G>C (p.Val1049=) rs2145474591
NM_001283009.2(RTEL1):c.3150C>T (p.Pro1050=) rs2145474615
NM_001283009.2(RTEL1):c.3155C>G (p.Ala1052Gly) rs1479396091
NM_001283009.2(RTEL1):c.3156A>C (p.Ala1052=) rs2145474659
NM_001283009.2(RTEL1):c.315C>T (p.Asp105=)
NM_001283009.2(RTEL1):c.3165G>A (p.Gln1055=)
NM_001283009.2(RTEL1):c.3168C>A (p.Gly1056=) rs2145474688
NM_001283009.2(RTEL1):c.3168C>T (p.Gly1056=)
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.316A>T (p.Ile106Phe) rs2090027158
NM_001283009.2(RTEL1):c.3171G>A (p.Gln1057=) rs2145474713
NM_001283009.2(RTEL1):c.3171G>T (p.Gln1057His)
NM_001283009.2(RTEL1):c.3177C>A (p.Ala1059=) rs539800902
NM_001283009.2(RTEL1):c.3178G>T (p.Val1060Leu)
NM_001283009.2(RTEL1):c.3180G>A (p.Val1060=)
NM_001283009.2(RTEL1):c.3182G>A (p.Ser1061Asn) rs1167219600
NM_001283009.2(RTEL1):c.3185C>T (p.Ala1062Val)
NM_001283009.2(RTEL1):c.3186C>T (p.Ala1062=)
NM_001283009.2(RTEL1):c.3190C>T (p.Leu1064=) rs373448481
NM_001283009.2(RTEL1):c.3192G>A (p.Leu1064=) rs1411385727
NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)
NM_001283009.2(RTEL1):c.3204C>T (p.Arg1068=) rs774018252
NM_001283009.2(RTEL1):c.3210C>A (p.Ala1070=)
NM_001283009.2(RTEL1):c.3210C>T (p.Ala1070=)
NM_001283009.2(RTEL1):c.3213G>C (p.Leu1071=) rs1209413497
NM_001283009.2(RTEL1):c.3213G>T (p.Leu1071=)
NM_001283009.2(RTEL1):c.3216G>T (p.Gly1072=)
NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)
NM_001283009.2(RTEL1):c.321A>G (p.Pro107=)
NM_001283009.2(RTEL1):c.3223G>T (p.Gly1075Cys) rs1431515751
NM_001283009.2(RTEL1):c.3225C>G (p.Gly1075=) rs1601196691
NM_001283009.2(RTEL1):c.3225C>T (p.Gly1075=)
NM_001283009.2(RTEL1):c.3231C>T (p.Ser1077=)
NM_001283009.2(RTEL1):c.3234A>G (p.Gln1078=) rs2145475264
NM_001283009.2(RTEL1):c.3235C>G (p.Leu1079Val)
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
NM_001283009.2(RTEL1):c.3238T>G (p.Leu1080Val)
NM_001283009.2(RTEL1):c.3245C>T (p.Ala1082Val)
NM_001283009.2(RTEL1):c.3246G>C (p.Ala1082=)
NM_001283009.2(RTEL1):c.3247C>T (p.Leu1083=)
NM_001283009.2(RTEL1):c.3252A>G (p.Thr1084=) rs1212700862
NM_001283009.2(RTEL1):c.3255C>G (p.Ala1085=) rs376458024
NM_001283009.2(RTEL1):c.3255C>T (p.Ala1085=)
NM_001283009.2(RTEL1):c.3258T>C (p.Tyr1086=)
NM_001283009.2(RTEL1):c.3259A>G (p.Lys1087Glu)
NM_001283009.2(RTEL1):c.3261G>T (p.Lys1087Asn)
NM_001283009.2(RTEL1):c.3262C>G (p.Gln1088Glu) rs918462634
NM_001283009.2(RTEL1):c.3264A>G (p.Gln1088=) rs2145475545
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3271G>A (p.Asp1091Asn)
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
NM_001283009.2(RTEL1):c.3276C>A (p.Leu1092=) rs143869851
NM_001283009.2(RTEL1):c.3279C>G (p.Asp1093Glu)
NM_001283009.2(RTEL1):c.3279C>T (p.Asp1093=) rs756242989
NM_001283009.2(RTEL1):c.3282G>A (p.Lys1094=) rs778086975
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn) rs778086975
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
NM_001283009.2(RTEL1):c.3286C>T (p.Leu1096=) rs547956753
NM_001283009.2(RTEL1):c.3288G>C (p.Leu1096=) rs2090933337
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) rs2090933372
NM_001283009.2(RTEL1):c.3292G>A (p.Val1098Met)
NM_001283009.2(RTEL1):c.3292G>C (p.Val1098Leu)
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=) rs771667984
NM_001283009.2(RTEL1):c.3296T>G (p.Leu1099Trp) rs199998697
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=) rs776426684
NM_001283009.2(RTEL1):c.3303C>T (p.Ala1101=)
NM_001283009.2(RTEL1):c.3304C>G (p.Leu1102Val)
NM_001283009.2(RTEL1):c.3304C>T (p.Leu1102=)
NM_001283009.2(RTEL1):c.3306G>A (p.Leu1102=)
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3309C>A (p.Thr1103=)
NM_001283009.2(RTEL1):c.3309C>G (p.Thr1103=) rs773182758
NM_001283009.2(RTEL1):c.3309C>T (p.Thr1103=) rs773182758
NM_001283009.2(RTEL1):c.3311C>G (p.Thr1104Ser)
NM_001283009.2(RTEL1):c.3313G>A (p.Ala1105Thr) rs752980702
NM_001283009.2(RTEL1):c.3314C>A (p.Ala1105Glu)
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly) rs1193975279
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg) rs115264605
NM_001283009.2(RTEL1):c.3320C>T (p.Pro1107Leu)
NM_001283009.2(RTEL1):c.3322G>A (p.Glu1108Lys) rs945952564
NM_001283009.2(RTEL1):c.3324G>A (p.Glu1108=) rs1229398693
NM_001283009.2(RTEL1):c.3326A>C (p.Asp1109Ala)
NM_001283009.2(RTEL1):c.3327C>T (p.Asp1109=)
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val) rs754275053
NM_001283009.2(RTEL1):c.3329T>C (p.Phe1110Ser) rs148621466
NM_001283009.2(RTEL1):c.3330C>T (p.Phe1110=) rs779425045
NM_001283009.2(RTEL1):c.3331C>T (p.Pro1111Ser)
NM_001283009.2(RTEL1):c.3333C>G (p.Pro1111=)
NM_001283009.2(RTEL1):c.3334C>T (p.Leu1112=) rs758775121
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3337C>T (p.Leu1113=) rs2145476254
NM_001283009.2(RTEL1):c.3339G>C (p.Leu1113=)
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
NM_001283009.2(RTEL1):c.3343+10C>T rs2145476386
NM_001283009.2(RTEL1):c.3343+11C>G
NM_001283009.2(RTEL1):c.3343+11C>T
NM_001283009.2(RTEL1):c.3343+13G>A
NM_001283009.2(RTEL1):c.3343+14G>A
NM_001283009.2(RTEL1):c.3343+15C>T
NM_001283009.2(RTEL1):c.3343+18G>A
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3343+7G>A rs2145476335
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.3343+9C>T rs776254998
NM_001283009.2(RTEL1):c.3343A>G (p.Arg1115Gly)
NM_001283009.2(RTEL1):c.3344-10C>T rs1173562610
NM_001283009.2(RTEL1):c.3344-12A>C
NM_001283009.2(RTEL1):c.3344-14G>A rs2145477193
NM_001283009.2(RTEL1):c.3344-20C>G
NM_001283009.2(RTEL1):c.3344-5del rs2145477238
NM_001283009.2(RTEL1):c.3344-6C>T
NM_001283009.2(RTEL1):c.3344-8C>G
NM_001283009.2(RTEL1):c.3344-8C>T
NM_001283009.2(RTEL1):c.3352A>G (p.Met1118Val) rs2090940417
NM_001283009.2(RTEL1):c.3358G>A (p.Val1120Met) rs1232203927
NM_001283009.2(RTEL1):c.3358G>C (p.Val1120Leu)
NM_001283009.2(RTEL1):c.335C>T (p.Ala112Val)
NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)
NM_001283009.2(RTEL1):c.3364C>T (p.Pro1122Ser)
NM_001283009.2(RTEL1):c.3365C>T (p.Pro1122Leu)
NM_001283009.2(RTEL1):c.3369C>T (p.His1123=) rs2145477387
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.3372C>T (p.His1124=) rs2145477414
NM_001283009.2(RTEL1):c.3374A>G (p.Lys1125Arg)
NM_001283009.2(RTEL1):c.3375G>A (p.Lys1125=) rs1464913958
NM_001283009.2(RTEL1):c.3376C>G (p.Gln1126Glu) rs778734749
NM_001283009.2(RTEL1):c.3378G>C (p.Gln1126His)
NM_001283009.2(RTEL1):c.3379C>A (p.Arg1127Ser) rs745614952
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=) rs368588082
NM_001283009.2(RTEL1):c.3382T>C (p.Phe1128Leu) rs2090941270
NM_001283009.2(RTEL1):c.3384C>T (p.Phe1128=) rs1431888088
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs) rs2145477500
NM_001283009.2(RTEL1):c.3390G>A (p.Gln1130=)
NM_001283009.2(RTEL1):c.3392C>A (p.Thr1131Lys)
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg) rs372852392
NM_001283009.2(RTEL1):c.3394T>C (p.Cys1132Arg) rs2145477538
NM_001283009.2(RTEL1):c.3399A>C (p.Thr1133=) rs2145477587
NM_001283009.2(RTEL1):c.3399A>G (p.Thr1133=)
NM_001283009.2(RTEL1):c.3405G>A (p.Leu1135=) rs1390155418
NM_001283009.2(RTEL1):c.3408C>A (p.Thr1136=) rs752386852
NM_001283009.2(RTEL1):c.3408C>G (p.Thr1136=) rs752386852
NM_001283009.2(RTEL1):c.3411C>A (p.Gly1137=)
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.3413G>A (p.Arg1138Gln)
NM_001283009.2(RTEL1):c.3413G>C (p.Arg1138Pro)
NM_001283009.2(RTEL1):c.3413G>T (p.Arg1138Leu) rs756727783
NM_001283009.2(RTEL1):c.3414G>T (p.Arg1138=) rs1217551424
NM_001283009.2(RTEL1):c.3416C>T (p.Pro1139Leu)
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys) rs200622914
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
NM_001283009.2(RTEL1):c.3426C>T (p.Gly1142=)
NM_001283009.2(RTEL1):c.342G>A (p.Arg114=) rs2146150765
NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg) rs749331637
NM_001283009.2(RTEL1):c.3440G>A (p.Gly1147Glu)
NM_001283009.2(RTEL1):c.3441A>T (p.Gly1147=) rs2145477908
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His) rs116773320
NM_001283009.2(RTEL1):c.3443C>G (p.Pro1148Arg)
NM_001283009.2(RTEL1):c.3446A>C (p.Gln1149Pro)
NM_001283009.2(RTEL1):c.3446A>G (p.Gln1149Arg)
NM_001283009.2(RTEL1):c.3447G>A (p.Gln1149=)
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
NM_001283009.2(RTEL1):c.3448GAG[1] (p.Glu1151del) rs777014655
NM_001283009.2(RTEL1):c.3450G>A (p.Glu1150=) rs2145477956
NM_001283009.2(RTEL1):c.3453G>A (p.Glu1151=)
NM_001283009.2(RTEL1):c.3455G>A (p.Arg1152Lys)
NM_001283009.2(RTEL1):c.3456G>A (p.Arg1152=) rs753433733
NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)
NM_001283009.2(RTEL1):c.3459T>G (p.Leu1153=) rs2145478009
NM_001283009.2(RTEL1):c.345C>T (p.Thr115=)
NM_001283009.2(RTEL1):c.3460G>C (p.Ala1154Pro)
NM_001283009.2(RTEL1):c.3461C>T (p.Ala1154Val)
NM_001283009.2(RTEL1):c.3463G>T (p.Val1155Leu)
NM_001283009.2(RTEL1):c.3472G>A (p.Val1158Met)
NM_001283009.2(RTEL1):c.3480C>T (p.Thr1160=)
NM_001283009.2(RTEL1):c.3484A>C (p.Arg1162=)
NM_001283009.2(RTEL1):c.3487G>A (p.Ala1163Thr)
NM_001283009.2(RTEL1):c.3489T>C (p.Ala1163=)
NM_001283009.2(RTEL1):c.3490C>G (p.Pro1164Ala)
NM_001283009.2(RTEL1):c.3491C>T (p.Pro1164Leu)
NM_001283009.2(RTEL1):c.3492C>G (p.Pro1164=)
NM_001283009.2(RTEL1):c.3495A>G (p.Gln1165=)
NM_001283009.2(RTEL1):c.3499+10C>A rs2090945719
NM_001283009.2(RTEL1):c.3499+12G>A
NM_001283009.2(RTEL1):c.3499+12G>T
NM_001283009.2(RTEL1):c.3499+14C>T
NM_001283009.2(RTEL1):c.3499+17G>A
NM_001283009.2(RTEL1):c.3499+17G>T
NM_001283009.2(RTEL1):c.3499+18C>A
NM_001283009.2(RTEL1):c.3499+18C>T
NM_001283009.2(RTEL1):c.3499+1G>A
NM_001283009.2(RTEL1):c.3499+20G>C
NM_001283009.2(RTEL1):c.3499+2T>C
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTA rs2090945455
NM_001283009.2(RTEL1):c.3499+6G>C
NM_001283009.2(RTEL1):c.3499+7C>G rs1228292168
NM_001283009.2(RTEL1):c.3499+9C>A
NM_001283009.2(RTEL1):c.3499+9C>G
NM_001283009.2(RTEL1):c.3500-10C>G
NM_001283009.2(RTEL1):c.3500-10_3500-9del
NM_001283009.2(RTEL1):c.3500-12C>G
NM_001283009.2(RTEL1):c.3500-12C>T rs747484884
NM_001283009.2(RTEL1):c.3500-19C>T
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3500-3C>T
NM_001283009.2(RTEL1):c.3500-4C>A
NM_001283009.2(RTEL1):c.3500-6C>T rs781733108
NM_001283009.2(RTEL1):c.3500-8G>C
NM_001283009.2(RTEL1):c.3500-9del
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3507A>G (p.Ser1169=) rs2145479135
NM_001283009.2(RTEL1):c.3509G>T (p.Arg1170Leu)
NM_001283009.2(RTEL1):c.3513C>G (p.Ser1171=) rs138738109
NM_001283009.2(RTEL1):c.3514G>A (p.Glu1172Lys)
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
NM_001283009.2(RTEL1):c.3515A>C (p.Glu1172Ala) rs2145479213
NM_001283009.2(RTEL1):c.3516G>A (p.Glu1172=) rs2145479225
NM_001283009.2(RTEL1):c.3519G>C (p.Lys1173Asn)
NM_001283009.2(RTEL1):c.351G>A (p.Ser117=) rs1290133533
NM_001283009.2(RTEL1):c.3522C>G (p.Thr1174=) rs200086502
NM_001283009.2(RTEL1):c.3523_3531dup (p.Gly1175_Thr1177dup) rs2090951149
NM_001283009.2(RTEL1):c.3525G>A (p.Gly1175=)
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
NM_001283009.2(RTEL1):c.3528G>A (p.Lys1176=) rs367598119
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3531C>T (p.Thr1177=) rs2090951654
NM_001283009.2(RTEL1):c.3534G>C (p.Gln1178His) rs781484810
NM_001283009.2(RTEL1):c.3543C>T (p.Ile1181=) rs748910434
NM_001283009.2(RTEL1):c.3545C>T (p.Ser1182Leu)
NM_001283009.2(RTEL1):c.3546G>C (p.Ser1182=) rs774018403
NM_001283009.2(RTEL1):c.3547T>A (p.Ser1183Thr)
NM_001283009.2(RTEL1):c.354A>G (p.Gln118=)
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
NM_001283009.2(RTEL1):c.3553C>G (p.Leu1185Val) rs1439323475
NM_001283009.2(RTEL1):c.3553C>T (p.Leu1185Phe) rs1439323475
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs) rs1363124795
NM_001283009.2(RTEL1):c.3555T>C (p.Leu1185=)
NM_001283009.2(RTEL1):c.3556A>G (p.Arg1186Gly)
NM_001283009.2(RTEL1):c.3557G>A (p.Arg1186Lys) rs2090952685
NM_001283009.2(RTEL1):c.3558A>G (p.Arg1186=) rs2145479536
NM_001283009.2(RTEL1):c.3559C>G (p.Gln1187Glu)
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3565C>T (p.Pro1189Ser)
NM_001283009.2(RTEL1):c.3566C>T (p.Pro1189Leu)
NM_001283009.2(RTEL1):c.3569C>T (p.Ala1190Val)
NM_001283009.2(RTEL1):c.3571G>A (p.Gly1191Arg) rs2090953166
NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)
NM_001283009.2(RTEL1):c.3572G>A (p.Gly1191Glu)
NM_001283009.2(RTEL1):c.3573G>A (p.Gly1191=) rs77864051
NM_001283009.2(RTEL1):c.3573G>C (p.Gly1191=)
NM_001283009.2(RTEL1):c.3576T>C (p.Thr1192=)
NM_001283009.2(RTEL1):c.3579G>A (p.Val1193=) rs2090953690
NM_001283009.2(RTEL1):c.3579G>T (p.Val1193=)
NM_001283009.2(RTEL1):c.3582G>A (p.Gly1194=) rs1601199790
NM_001283009.2(RTEL1):c.3589G>C (p.Gly1197Arg)
NM_001283009.2(RTEL1):c.3594G>A (p.Glu1198=) rs1440306935
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn) rs2145479866
NM_001283009.2(RTEL1):c.3608G>C (p.Ser1203Thr)
NM_001283009.2(RTEL1):c.3608G>T (p.Ser1203Ile) rs2145479866
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
NM_001283009.2(RTEL1):c.3614C>T (p.Ser1205Phe)
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=) rs200452563
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) rs2090027846
NM_001283009.2(RTEL1):c.3623C>T (p.Pro1208Leu)
NM_001283009.2(RTEL1):c.3629A>C (p.His1210Pro) rs1601199974
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg) rs1601199974
NM_001283009.2(RTEL1):c.3630C>A (p.His1210Gln)
NM_001283009.2(RTEL1):c.3631G>A (p.Gly1211Arg) rs1354993689
NM_001283009.2(RTEL1):c.3636T>C (p.Pro1212=)
NM_001283009.2(RTEL1):c.3639A>G (p.Ala1213=)
NM_001283009.2(RTEL1):c.3642A>C (p.Ala1214=)
NM_001283009.2(RTEL1):c.3642A>G (p.Ala1214=) rs1228117671
NM_001283009.2(RTEL1):c.3642A>T (p.Ala1214=)
NM_001283009.2(RTEL1):c.3653G>A (p.Gly1218Asp)
NM_001283009.2(RTEL1):c.3658C>T (p.Pro1220Ser)
NM_001283009.2(RTEL1):c.3663T>C (p.His1221=)
NM_001283009.2(RTEL1):c.3665G>A (p.Gly1222Glu)
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3666G>C (p.Gly1222=) rs1408602214
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs) rs2145480213
NM_001283009.2(RTEL1):c.3675C>T (p.Ile1225=)
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3678T>G (p.Ala1226=) rs2145480257
NM_001283009.2(RTEL1):c.3681G>A (p.Gly1227=)
NM_001283009.2(RTEL1):c.3684G>A (p.Gln1228=) rs1329071018
NM_001283009.2(RTEL1):c.3684G>C (p.Gln1228His)
NM_001283009.2(RTEL1):c.3697G>A (p.Ala1233Thr) rs2090957083
NM_001283009.2(RTEL1):c.3698C>G (p.Ala1233Gly)
NM_001283009.2(RTEL1):c.369C>G (p.Ile123Met) rs2090027882
NM_001283009.2(RTEL1):c.3700C>T (p.Pro1234Ser) rs1207345139
NM_001283009.2(RTEL1):c.3702G>T (p.Pro1234=) rs368176460
NM_001283009.2(RTEL1):c.3703G>C (p.Gly1235Arg)
NM_001283009.2(RTEL1):c.3705C>T (p.Gly1235=)
NM_001283009.2(RTEL1):c.3707G>A (p.Gly1236Glu)
NM_001283009.2(RTEL1):c.3709C>G (p.Pro1237Ala) rs1455414990
NM_001283009.2(RTEL1):c.3709C>T (p.Pro1237Ser)
NM_001283009.2(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_001283009.2(RTEL1):c.3711C>T (p.Pro1237=)
NM_001283009.2(RTEL1):c.3714C>G (p.Leu1238=) rs750749932
NM_001283009.2(RTEL1):c.3714C>T (p.Leu1238=)
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3716C>T (p.Ser1239Leu)
NM_001283009.2(RTEL1):c.3718G>C (p.Ala1240Pro)
NM_001283009.2(RTEL1):c.3720A>G (p.Ala1240=)
NM_001283009.2(RTEL1):c.3723C>T (p.Gly1241=) rs2145480579
NM_001283009.2(RTEL1):c.3725G>A (p.Cys1242Tyr)
NM_001283009.2(RTEL1):c.3725G>T (p.Cys1242Phe) rs765990015
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3734A>G (p.Gln1245Arg) rs2090958582
NM_001283009.2(RTEL1):c.3736G>A (p.Gly1246Ser) rs2145480651
NM_001283009.2(RTEL1):c.3741T>C (p.Cys1247=)
NM_001283009.2(RTEL1):c.3746C>T (p.Ala1249Val) rs1601200584
NM_001283009.2(RTEL1):c.3754GTG[1] (p.Val1253del)
NM_001283009.2(RTEL1):c.3756G>C (p.Val1252=) rs2145480744
NM_001283009.2(RTEL1):c.3762C>T (p.Pro1254=) rs1412784170
NM_001283009.2(RTEL1):c.3765C>T (p.Phe1255=)
NM_001283009.2(RTEL1):c.3766C>A (p.Gln1256Lys)
NM_001283009.2(RTEL1):c.3774T>C (p.Pro1258=) rs2145480887
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs) rs2145480909
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs) rs764058481
NM_001283009.2(RTEL1):c.3777C>G (p.Ala1259=) rs1297204312
NM_001283009.2(RTEL1):c.3777C>T (p.Ala1259=) rs1297204312
NM_001283009.2(RTEL1):c.3780T>C (p.Cys1260=)
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.3783C>T (p.Asp1261=) rs376313219
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter) rs2145480992
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.3792C>T (p.Arg1264=) rs773596641
NM_001283009.2(RTEL1):c.3795C>T (p.Cys1265=) rs2145481027
NM_001283009.2(RTEL1):c.3801C>G (p.Ala1267=) rs368388044
NM_001283009.2(RTEL1):c.3803G>C (p.Cys1268Ser) rs1601200861
NM_001283009.2(RTEL1):c.3807G>A (p.Trp1269Ter)
NM_001283009.2(RTEL1):c.3810A>G (p.Gln1270=) rs1017294740
NM_001283009.2(RTEL1):c.3813G>A (p.Arg1271=) rs2145481166
NM_001283009.2(RTEL1):c.3817C>T (p.Leu1273Phe)
NM_001283009.2(RTEL1):c.3821A>G (p.Gln1274Arg)
NM_001283009.2(RTEL1):c.3822+14C>T
NM_001283009.2(RTEL1):c.3822+16C>G rs2145481282
NM_001283009.2(RTEL1):c.3822+19C>G
NM_001283009.2(RTEL1):c.3822+19C>T
NM_001283009.2(RTEL1):c.3822+1G>A
NM_001283009.2(RTEL1):c.3822+20A>C
NM_001283009.2(RTEL1):c.3822+7G>A rs2145481218
NM_001283009.2(RTEL1):c.3822+7G>T rs2145481218
NM_001283009.2(RTEL1):c.3822+8C>A
NM_001283009.2(RTEL1):c.3822+8C>G rs373109673
NM_001283009.2(RTEL1):c.3823-11T>C
NM_001283009.2(RTEL1):c.3823-12G>C
NM_001283009.2(RTEL1):c.3823-12G>T rs758193076
NM_001283009.2(RTEL1):c.3823-14C>G
NM_001283009.2(RTEL1):c.3823-17G>A
NM_001283009.2(RTEL1):c.3823-18G>C
NM_001283009.2(RTEL1):c.3823-19T>C rs2145481921
NM_001283009.2(RTEL1):c.3823-6T>C rs2090965747
NM_001283009.2(RTEL1):c.3823-7C>G rs373163953
NM_001283009.2(RTEL1):c.3823-8T>C rs748427789
NM_001283009.2(RTEL1):c.3823-9G>C
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser) rs2090966039
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly) rs771296244
NM_001283009.2(RTEL1):c.3831G>A (p.Arg1277=) rs2145482103
NM_001283009.2(RTEL1):c.3831G>T (p.Arg1277Ser)
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile) rs1428387350
NM_001283009.2(RTEL1):c.3837C>T (p.Cys1279=)
NM_001283009.2(RTEL1):c.3841G>A (p.Ala1281Thr)
NM_001283009.2(RTEL1):c.3842C>T (p.Ala1281Val) rs1601201761
NM_001283009.2(RTEL1):c.3843C>T (p.Ala1281=) rs2145482161
NM_001283009.2(RTEL1):c.384C>T (p.Asn128=) rs145001682
NM_001283009.2(RTEL1):c.3855C>G (p.Ala1285=)
NM_001283009.2(RTEL1):c.3857C>T (p.Ser1286Phe)
NM_001283009.2(RTEL1):c.3859A>C (p.Arg1287=) rs1346607345
NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)
NM_001283009.2(RTEL1):c.3867G>A (p.Gln1289=)
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
NM_001283009.2(RTEL1):c.3877C>G (p.Gln1293Glu)
NM_001283009.2(RTEL1):c.3878del (p.Gln1293fs)
NM_001283009.2(RTEL1):c.387C>G (p.Thr129=)
NM_001283009.2(RTEL1):c.3882C>A (p.Val1294=)
NM_001283009.2(RTEL1):c.3882C>G (p.Val1294=)
NM_001283009.2(RTEL1):c.3882C>T (p.Val1294=)
NM_001283009.2(RTEL1):c.3889C>T (p.Pro1297Ser) rs2090967528
NM_001283009.2(RTEL1):c.3894G>A (p.Glu1298=) rs1267242039
NM_001283009.2(RTEL1):c.3897C>T (p.Pro1299=) rs771051288
NM_001283009.2(RTEL1):c.389C>A (p.Ser130Tyr)
NM_001283009.2(RTEL1):c.3900G>A (p.Gln1300=) rs374244090
NM_001283009.2(RTEL1):c.390C>T (p.Ser130=)
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp) rs769533935
NM_001283009.2(RTEL1):c.395+11C>A
NM_001283009.2(RTEL1):c.395+11C>T
NM_001283009.2(RTEL1):c.395+18A>C rs946202479
NM_001283009.2(RTEL1):c.395+18A>G
NM_001283009.2(RTEL1):c.395+19C>T
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.395+20A>C
NM_001283009.2(RTEL1):c.395+4G>T rs2146151011
NM_001283009.2(RTEL1):c.395+8A>G rs992952054
NM_001283009.2(RTEL1):c.395+8A>T rs992952054
NM_001283009.2(RTEL1):c.395+9G>A rs2146151037
NM_001283009.2(RTEL1):c.396-19C>G
NM_001283009.2(RTEL1):c.396-20A>G rs1601086623
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.396-50T>C rs1555899781
NM_001283009.2(RTEL1):c.396-6C>A rs778603711
NM_001283009.2(RTEL1):c.396-7C>T
NM_001283009.2(RTEL1):c.396-8C>G
NM_001283009.2(RTEL1):c.396G>C (p.Arg132=)
NM_001283009.2(RTEL1):c.397C>T (p.Pro133Ser) rs942504504
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=) rs6062480
NM_001283009.2(RTEL1):c.411G>T (p.Val137=) rs1447538895
NM_001283009.2(RTEL1):c.412C>T (p.Leu138=) rs2146153879
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.423G>A (p.Arg141=)
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
NM_001283009.2(RTEL1):c.426G>A (p.Glu142=)
NM_001283009.2(RTEL1):c.430C>T (p.Leu144=)
NM_001283009.2(RTEL1):c.438C>T (p.Ile146=)
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs) rs2146153920
NM_001283009.2(RTEL1):c.442C>T (p.Pro148Ser)
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu) rs1296968885
NM_001283009.2(RTEL1):c.460G>C (p.Glu154Gln) rs2146154075
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
NM_001283009.2(RTEL1):c.467A>G (p.Asn156Ser) rs774724599
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter) rs2146141455
NM_001283009.2(RTEL1):c.471T>C (p.His157=) rs2146154143
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) rs2090043175
NM_001283009.2(RTEL1):c.477+13G>A
NM_001283009.2(RTEL1):c.477+13G>C rs764646296
NM_001283009.2(RTEL1):c.477+15T>A
NM_001283009.2(RTEL1):c.477+18C>G
NM_001283009.2(RTEL1):c.477+18C>T
NM_001283009.2(RTEL1):c.477+19G>A rs6010997
NM_001283009.2(RTEL1):c.477+19G>T rs6010997
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.477+20C>G
NM_001283009.2(RTEL1):c.477+20C>T
NM_001283009.2(RTEL1):c.477+6C>T rs1321816687
NM_001283009.2(RTEL1):c.478-10C>G rs2146155464
NM_001283009.2(RTEL1):c.478-10C>T rs2146155464
NM_001283009.2(RTEL1):c.478-12T>G
NM_001283009.2(RTEL1):c.478-13C>G rs769890048
NM_001283009.2(RTEL1):c.478-13C>T
NM_001283009.2(RTEL1):c.478-14C>T
NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)
NM_001283009.2(RTEL1):c.480C>G (p.Ile160Met)
NM_001283009.2(RTEL1):c.483C>T (p.His161=) rs2090048149
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His) rs377176432
NM_001283009.2(RTEL1):c.491G>T (p.Arg164Leu)
NM_001283009.2(RTEL1):c.492T>G (p.Arg164=) rs2146155614
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs) rs2146141304
NM_001283009.2(RTEL1):c.500T>G (p.Val167Gly) rs1601087815
NM_001283009.2(RTEL1):c.502G>A (p.Ala168Thr)
NM_001283009.2(RTEL1):c.503C>T (p.Ala168Val) rs2090048504
NM_001283009.2(RTEL1):c.504A>G (p.Ala168=)
NM_001283009.2(RTEL1):c.508C>T (p.Arg170Cys) rs866785110
NM_001283009.2(RTEL1):c.519T>C (p.His173=) rs2146155750
NM_001283009.2(RTEL1):c.522C>A (p.Phe174Leu)
NM_001283009.2(RTEL1):c.522C>T (p.Phe174=)
NM_001283009.2(RTEL1):c.526A>G (p.Asn176Asp) rs2146155790
NM_001283009.2(RTEL1):c.534A>G (p.Val178=)
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_001283009.2(RTEL1):c.538+10G>T
NM_001283009.2(RTEL1):c.538+11del
NM_001283009.2(RTEL1):c.538+12T>G
NM_001283009.2(RTEL1):c.538+14G>C
NM_001283009.2(RTEL1):c.538+16T>G
NM_001283009.2(RTEL1):c.538+17G>T
NM_001283009.2(RTEL1):c.538+19G>A
NM_001283009.2(RTEL1):c.538+20A>T rs2090049738
NM_001283009.2(RTEL1):c.538+8C>A rs749049004
NM_001283009.2(RTEL1):c.539-10A>G rs2146169484
NM_001283009.2(RTEL1):c.539-12T>C
NM_001283009.2(RTEL1):c.539-14C>A
NM_001283009.2(RTEL1):c.539-16T>A rs1460115448
NM_001283009.2(RTEL1):c.539-17C>T
NM_001283009.2(RTEL1):c.539-18C>G
NM_001283009.2(RTEL1):c.539-18C>T
NM_001283009.2(RTEL1):c.539-19C>T
NM_001283009.2(RTEL1):c.539-20C>T
NM_001283009.2(RTEL1):c.539-8A>C
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.540A>T (p.Glu180Asp) rs1301531897
NM_001283009.2(RTEL1):c.543A>G (p.Lys181=) rs2146169553
NM_001283009.2(RTEL1):c.547C>T (p.Leu183=) rs2090119493
NM_001283009.2(RTEL1):c.549G>A (p.Leu183=)
NM_001283009.2(RTEL1):c.54C>T (p.Tyr18=)
NM_001283009.2(RTEL1):c.552G>A (p.Glu184=)
NM_001283009.2(RTEL1):c.554A>G (p.Gln185Arg)
NM_001283009.2(RTEL1):c.555G>A (p.Gln185=)
NM_001283009.2(RTEL1):c.557A>G (p.Glu186Gly)
NM_001283009.2(RTEL1):c.559C>T (p.Leu187=) rs769782509
NM_001283009.2(RTEL1):c.561G>C (p.Leu187=) rs1601096162
NM_001283009.2(RTEL1):c.562G>A (p.Ala188Thr)
NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg) rs2146141516
NM_001283009.2(RTEL1):c.57A>G (p.Lys19=)
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_001283009.2(RTEL1):c.588C>T (p.Asp196=) rs2090120009
NM_001283009.2(RTEL1):c.594C>G (p.Val198=) rs774564498
NM_001283009.2(RTEL1):c.594C>T (p.Val198=)
NM_001283009.2(RTEL1):c.595A>G (p.Lys199Glu) rs1601096259
NM_001283009.2(RTEL1):c.597G>A (p.Lys199=)
NM_001283009.2(RTEL1):c.599G>A (p.Ser200Asn)
NM_001283009.2(RTEL1):c.599G>C (p.Ser200Thr) rs2090120174
NM_001283009.2(RTEL1):c.600C>T (p.Ser200=) rs771785679
NM_001283009.2(RTEL1):c.601G>A (p.Gly201Arg)
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.613A>G (p.Arg205Gly)
NM_001283009.2(RTEL1):c.614+14G>T
NM_001283009.2(RTEL1):c.614+16G>T
NM_001283009.2(RTEL1):c.614+17A>G
NM_001283009.2(RTEL1):c.614+7C>T
NM_001283009.2(RTEL1):c.614+9C>G
NM_001283009.2(RTEL1):c.614+9C>T rs2090120974
NM_001283009.2(RTEL1):c.615-13C>G
NM_001283009.2(RTEL1):c.615-149C>G rs7261546
NM_001283009.2(RTEL1):c.615-15C>T
NM_001283009.2(RTEL1):c.615-15CT[2]
NM_001283009.2(RTEL1):c.615-15_615-13del rs764810346
NM_001283009.2(RTEL1):c.615-18C>A
NM_001283009.2(RTEL1):c.615-18C>T
NM_001283009.2(RTEL1):c.615-3C>G rs2090159810
NM_001283009.2(RTEL1):c.615-4C>G
NM_001283009.2(RTEL1):c.615-6del
NM_001283009.2(RTEL1):c.618G>A (p.Val206=) rs181508842
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
NM_001283009.2(RTEL1):c.621C>T (p.Cys207=)
NM_001283009.2(RTEL1):c.624T>G (p.Pro208=) rs1396123455
NM_001283009.2(RTEL1):c.627C>T (p.Tyr209=)
NM_001283009.2(RTEL1):c.631C>T (p.Leu211=)
NM_001283009.2(RTEL1):c.632T>A (p.Leu211Gln)
NM_001283009.2(RTEL1):c.635C>T (p.Ser212Phe)
NM_001283009.2(RTEL1):c.639G>C (p.Arg213=) rs2146176191
NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val) rs1235107432
NM_001283009.2(RTEL1):c.667T>C (p.Phe223Leu)
NM_001283009.2(RTEL1):c.674C>G (p.Pro225Arg)
NM_001283009.2(RTEL1):c.674C>T (p.Pro225Leu)
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.680A>G (p.Asn227Ser)
NM_001283009.2(RTEL1):c.682T>C (p.Tyr228His)
NM_001283009.2(RTEL1):c.683A>G (p.Tyr228Cys)
NM_001283009.2(RTEL1):c.687G>A (p.Leu229=)
NM_001283009.2(RTEL1):c.688T>C (p.Leu230=)
NM_001283009.2(RTEL1):c.692A>T (p.Asp231Val)
NM_001283009.2(RTEL1):c.693T>A (p.Asp231Glu)
NM_001283009.2(RTEL1):c.695C>T (p.Ala232Val) rs1035560386
NM_001283009.2(RTEL1):c.699+10C>G
NM_001283009.2(RTEL1):c.699+10C>T rs2090161637
NM_001283009.2(RTEL1):c.699+16T>C
NM_001283009.2(RTEL1):c.699+17G>T rs757244305
NM_001283009.2(RTEL1):c.699+18T>C
NM_001283009.2(RTEL1):c.699+20G>A
NM_001283009.2(RTEL1):c.699+3G>T
NM_001283009.2(RTEL1):c.699+6G>T
NM_001283009.2(RTEL1):c.699+7G>A
NM_001283009.2(RTEL1):c.699+7G>T rs2090161521
NM_001283009.2(RTEL1):c.699+8C>T rs891838113
NM_001283009.2(RTEL1):c.69G>A (p.Glu23=)
NM_001283009.2(RTEL1):c.700-10C>T rs1477756577
NM_001283009.2(RTEL1):c.700-13C>T
NM_001283009.2(RTEL1):c.700-14T>G rs2146193119
NM_001283009.2(RTEL1):c.700-18C>T
NM_001283009.2(RTEL1):c.700-19C>T
NM_001283009.2(RTEL1):c.700-20C>G
NM_001283009.2(RTEL1):c.700-20C>T
NM_001283009.2(RTEL1):c.700-4G>A
NM_001283009.2(RTEL1):c.700-4G>C
NM_001283009.2(RTEL1):c.700-5T>C
NM_001283009.2(RTEL1):c.700-6C>T rs2146193173
NM_001283009.2(RTEL1):c.700-7C>A rs762108680
NM_001283009.2(RTEL1):c.700-7C>G rs762108680
NM_001283009.2(RTEL1):c.700-7C>T rs762108680
NM_001283009.2(RTEL1):c.700-8T>C
NM_001283009.2(RTEL1):c.702C>T (p.Ser234=)
NM_001283009.2(RTEL1):c.711A>G (p.Ala237=) rs2090266105
NM_001283009.2(RTEL1):c.712C>T (p.His238Tyr)
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser) rs375403784
NM_001283009.2(RTEL1):c.721G>A (p.Asp241Asn)
NM_001283009.2(RTEL1):c.723C>T (p.Asp241=) rs755475482
NM_001283009.2(RTEL1):c.726G>C (p.Leu242=)
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001283009.2(RTEL1):c.732G>T (p.Gly244=)
NM_001283009.2(RTEL1):c.734C>T (p.Thr245Ile)
NM_001283009.2(RTEL1):c.735A>C (p.Thr245=) rs2090266464
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=) rs748518636
NM_001283009.2(RTEL1):c.747T>C (p.Phe249=) rs755757008
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.756T>C (p.Ala252=) rs2146193395
NM_001283009.2(RTEL1):c.758A>T (p.His253Leu) rs2146193406
NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)
NM_001283009.2(RTEL1):c.765+10del rs2090267244
NM_001283009.2(RTEL1):c.765+18T>G
NM_001283009.2(RTEL1):c.765+7C>A rs745788486
NM_001283009.2(RTEL1):c.765+7C>G
NM_001283009.2(RTEL1):c.765+9C>A rs1445188665
NM_001283009.2(RTEL1):c.765+9C>T rs1445188665
NM_001283009.2(RTEL1):c.766-14T>C
NM_001283009.2(RTEL1):c.766-15G>A
NM_001283009.2(RTEL1):c.766-20C>T
NM_001283009.2(RTEL1):c.766-4C>T rs778247916
NM_001283009.2(RTEL1):c.766-6C>G
NM_001283009.2(RTEL1):c.766-6C>T
NM_001283009.2(RTEL1):c.766-6del
NM_001283009.2(RTEL1):c.783A>G (p.Glu261=)
NM_001283009.2(RTEL1):c.789A>G (p.Ala263=) rs2090296302
NM_001283009.2(RTEL1):c.792C>G (p.Ser264=) rs768600790
NM_001283009.2(RTEL1):c.792C>T (p.Ser264=) rs768600790
NM_001283009.2(RTEL1):c.801G>T (p.Leu267=)
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala) rs115889392
NM_001283009.2(RTEL1):c.806C>T (p.Pro269Leu)
NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg) rs1240428205
NM_001283009.2(RTEL1):c.810T>C (p.His270=) rs2090296595
NM_001283009.2(RTEL1):c.81G>A (p.Lys27=) rs1475151056
NM_001283009.2(RTEL1):c.828G>A (p.Leu276=) rs2146197796
NM_001283009.2(RTEL1):c.832G>A (p.Val278Ile)
NM_001283009.2(RTEL1):c.834C>T (p.Val278=)
NM_001283009.2(RTEL1):c.835A>C (p.Ile279Leu)
NM_001283009.2(RTEL1):c.836T>C (p.Ile279Thr)
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs) rs2146197831
NM_001283009.2(RTEL1):c.842A>G (p.Gln281Arg)
NM_001283009.2(RTEL1):c.847C>T (p.Leu283=) rs1203271959
NM_001283009.2(RTEL1):c.849G>A (p.Leu283=) rs1278146543
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
NM_001283009.2(RTEL1):c.855G>A (p.Glu285=)
NM_001283009.2(RTEL1):c.85C>T (p.Leu29=)
NM_001283009.2(RTEL1):c.861C>G (p.Thr287=) rs2146197933
NM_001283009.2(RTEL1):c.864G>A (p.Lys288=)
NM_001283009.2(RTEL1):c.865G>T (p.Ala289Ser)
NM_001283009.2(RTEL1):c.870G>T (p.Ala290=)
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp) rs779999090
NM_001283009.2(RTEL1):c.87G>A (p.Leu29=)
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg) rs781117322
NM_001283009.2(RTEL1):c.889C>G (p.Pro297Ala)
NM_001283009.2(RTEL1):c.893A>C (p.Glu298Ala) rs371358427
NM_001283009.2(RTEL1):c.897C>G (p.Phe299Leu)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.903G>C (p.Ala301=)
NM_001283009.2(RTEL1):c.904G>T (p.Asp302Tyr)
NM_001283009.2(RTEL1):c.912C>A (p.Pro304=) rs2090300245
NM_001283009.2(RTEL1):c.915C>G (p.Ser305Arg)
NM_001283009.2(RTEL1):c.919+14C>T
NM_001283009.2(RTEL1):c.919+16G>T
NM_001283009.2(RTEL1):c.919+17_919+107del rs1601119996
NM_001283009.2(RTEL1):c.919+18C>T
NM_001283009.2(RTEL1):c.919+20G>A
NM_001283009.2(RTEL1):c.919+2T>C
NM_001283009.2(RTEL1):c.919+36_919+126del
NM_001283009.2(RTEL1):c.919+3G>T
NM_001283009.2(RTEL1):c.919+4C>T
NM_001283009.2(RTEL1):c.919+5G>A
NM_001283009.2(RTEL1):c.919+8C>T
NM_001283009.2(RTEL1):c.919+9A>G rs370171576
NM_001283009.2(RTEL1):c.920-11C>G
NM_001283009.2(RTEL1):c.920-17G>A
NM_001283009.2(RTEL1):c.920-20G>A
NM_001283009.2(RTEL1):c.920-20_920-12del rs781615421
NM_001283009.2(RTEL1):c.920-6G>A
NM_001283009.2(RTEL1):c.920-6G>T rs754549270
NM_001283009.2(RTEL1):c.920-7T>C
NM_001283009.2(RTEL1):c.920-9C>G rs910613998
NM_001283009.2(RTEL1):c.921G>C (p.Gly307=) rs2146210729
NM_001283009.2(RTEL1):c.927C>T (p.Asn309=) rs2146210742
NM_001283009.2(RTEL1):c.934C>G (p.Leu312Val)
NM_001283009.2(RTEL1):c.934C>T (p.Leu312=)
NM_001283009.2(RTEL1):c.936G>C (p.Leu312=) rs41302954
NM_001283009.2(RTEL1):c.951G>A (p.Lys317=) rs901129251
NM_001283009.2(RTEL1):c.952C>T (p.Leu318=)
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
NM_001283009.2(RTEL1):c.958+12C>T
NM_001283009.2(RTEL1):c.958+14T>C
NM_001283009.2(RTEL1):c.958+15C>A
NM_001283009.2(RTEL1):c.958+16C>T
NM_001283009.2(RTEL1):c.958+19G>A
NM_001283009.2(RTEL1):c.958+20C>T
NM_001283009.2(RTEL1):c.958+9T>G rs748577663
NM_001283009.2(RTEL1):c.958A>G (p.Met320Val)
NM_001283009.2(RTEL1):c.959-17A>G rs374694007
NM_001283009.2(RTEL1):c.959-17A>T
NM_001283009.2(RTEL1):c.959-5C>G rs2090398159
NM_001283009.2(RTEL1):c.959-7C>T
NM_001283009.2(RTEL1):c.959-9G>C rs373436285
NM_001283009.2(RTEL1):c.966G>C (p.Leu322=) rs1168361620
NM_001283009.2(RTEL1):c.971G>T (p.Arg324Leu) rs113684274
NM_001283009.2(RTEL1):c.972C>G (p.Arg324=)
NM_001283009.2(RTEL1):c.983C>A (p.Ala328Asp) rs561033103
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) rs2146141332
NM_032957.4(RTEL1):c.1346T>C rs863224915

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