NM_001283009.2(RTEL1):c.396-37C>T
|
rs41297642
|
0.00322
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
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.1348+6G>A
|
rs371358328
|
0.00083
|
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)
|
rs141618172
|
0.00074
|
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.973C>T (p.Leu325=)
|
rs142739953
|
0.00051
|
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.1482-7C>T
|
rs189271525
|
0.00043
|
NM_001283009.2(RTEL1):c.3109+11C>T
|
rs369098224
|
0.00041
|
NM_001283009.2(RTEL1):c.612C>T (p.His204=)
|
rs142711955
|
0.00040
|
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.489C>T (p.Cys163=)
|
rs142058793
|
0.00032
|
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.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.1595+9C>T
|
rs370145267
|
0.00022
|
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=)
|
rs199578945
|
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.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.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.1800+15G>A
|
rs371760783
|
0.00016
|
NM_001283009.2(RTEL1):c.2265+13C>G
|
rs369694643
|
0.00016
|
NM_001283009.2(RTEL1):c.3174C>T (p.His1058=)
|
rs146247083
|
0.00016
|
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.2414-15C>T
|
rs369129770
|
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.2874C>A (p.Pro958=)
|
rs369953611
|
0.00012
|
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)
|
rs150686112
|
0.00012
|
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.891G>A (p.Pro297=)
|
rs771117146
|
0.00011
|
NM_001283009.2(RTEL1):c.2358C>T (p.Thr786=)
|
rs202106904
|
0.00010
|
NM_001283009.2(RTEL1):c.477+10T>C
|
rs767872427
|
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.3585G>A (p.Ala1195=)
|
rs368887784
|
0.00009
|
NM_001283009.2(RTEL1):c.393C>T (p.Tyr131=)
|
rs1026158211
|
0.00009
|
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.869C>T (p.Ala290Val)
|
rs202157063
|
0.00008
|
NM_001283009.2(RTEL1):c.959-9G>A
|
rs373436285
|
0.00008
|
NM_001283009.2(RTEL1):c.1437C>T (p.Ser479=)
|
rs140055045
|
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.3630C>T (p.His1210=)
|
rs564198378
|
0.00007
|
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=)
|
rs375849124
|
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.2413+8C>T
|
rs758975241
|
0.00006
|
NM_001283009.2(RTEL1):c.2535G>A (p.Ala845=)
|
rs751482700
|
0.00006
|
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=)
|
rs146662746
|
0.00006
|
NM_001283009.2(RTEL1):c.3003G>A (p.Ala1001=)
|
rs368070468
|
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.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.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.2280C>T (p.Ala760=)
|
rs765015936
|
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.3110-19C>T
|
rs765873434
|
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.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.738C>T (p.Val246=)
|
rs569303047
|
0.00005
|
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.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.1636+15T>C
|
rs368333990
|
0.00004
|
NM_001283009.2(RTEL1):c.171G>T (p.Leu57=)
|
rs769885188
|
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.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.2414-20G>A
|
rs376268681
|
0.00004
|
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=)
|
rs767770069
|
0.00004
|
NM_001283009.2(RTEL1):c.246G>A (p.Pro82=)
|
rs775247678
|
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.2851+13G>A
|
rs368058305
|
0.00004
|
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=)
|
rs373347391
|
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.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.3840A>G (p.Pro1280=)
|
rs759916800
|
0.00004
|
NM_001283009.2(RTEL1):c.750C>T (p.Asp250=)
|
rs777405867
|
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.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.1236A>G (p.Pro412=)
|
rs914576910
|
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.1908G>A (p.Thr636=)
|
rs779437642
|
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.2343C>T (p.Gly781=)
|
rs766185797
|
0.00003
|
NM_001283009.2(RTEL1):c.2851+9G>C
|
rs778092060
|
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.3549C>T (p.Ser1183=)
|
rs775274392
|
0.00003
|
NM_001283009.2(RTEL1):c.3588C>T (p.Gly1196=)
|
rs757618919
|
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.396-27T>C
|
rs774523585
|
0.00003
|
NM_001283009.2(RTEL1):c.462G>A (p.Glu154=)
|
rs766637626
|
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.1266+15C>T
|
rs749890574
|
0.00002
|
NM_001283009.2(RTEL1):c.1267-6C>T
|
rs779075624
|
0.00002
|
NM_001283009.2(RTEL1):c.1413C>T (p.Gly471=)
|
rs373058034
|
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.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.1845C>T (p.Thr615=)
|
rs747169885
|
0.00002
|
NM_001283009.2(RTEL1):c.1896C>T (p.Asp632=)
|
rs201130278
|
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.2154C>T (p.Ala718=)
|
rs149899386
|
0.00002
|
NM_001283009.2(RTEL1):c.219C>T (p.Ala73=)
|
rs781340943
|
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.2652+10C>T
|
rs200550037
|
0.00002
|
NM_001283009.2(RTEL1):c.2679G>A (p.Thr893=)
|
rs754389601
|
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.3018G>T (p.Leu1006=)
|
rs374853062
|
0.00002
|
NM_001283009.2(RTEL1):c.3030G>A (p.Thr1010=)
|
rs6011036
|
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.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.3708G>A (p.Gly1236=)
|
rs754318726
|
0.00002
|
NM_001283009.2(RTEL1):c.3729G>T (p.Val1243=)
|
rs370084961
|
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.831C>T (p.Asp277=)
|
rs768009058
|
0.00002
|
NM_001283009.2(RTEL1):c.920-9C>T
|
rs910613998
|
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.1059T>C (p.Ala353=)
|
rs774062676
|
0.00001
|
NM_001283009.2(RTEL1):c.105G>A (p.Lys35=)
|
rs894771414
|
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.1179G>A (p.Ala393=)
|
rs773272719
|
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.1251C>T (p.Ala417=)
|
rs776000925
|
0.00001
|
NM_001283009.2(RTEL1):c.1266+11C>T
|
rs2090575166
|
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.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.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.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.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.1722+9C>G
|
rs1344464320
|
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.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.1869C>T (p.Cys623=)
|
rs1405032353
|
0.00001
|
NM_001283009.2(RTEL1):c.1875C>G (p.Gly625=)
|
rs1479553590
|
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.1941G>A (p.Pro647=)
|
rs149374241
|
0.00001
|
NM_001283009.2(RTEL1):c.1950A>G (p.Pro650=)
|
rs761454817
|
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.2109G>A (p.Gln703=)
|
rs764545169
|
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.2141+20A>C
|
rs749402415
|
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.2170C>T (p.Leu724=)
|
rs779981404
|
0.00001
|
NM_001283009.2(RTEL1):c.2172G>A (p.Leu724=)
|
rs747160558
|
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.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.2277G>A (p.Pro759=)
|
rs768310963
|
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.2457G>A (p.Glu819=)
|
rs1199472391
|
0.00001
|
NM_001283009.2(RTEL1):c.2460T>C (p.Tyr820=)
|
rs779697253
|
0.00001
|
NM_001283009.2(RTEL1):c.2500C>T (p.Leu834=)
|
rs375507524
|
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.2580C>T (p.Ser860=)
|
rs762526856
|
0.00001
|
NM_001283009.2(RTEL1):c.2613G>A (p.Pro871=)
|
rs758611174
|
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.2763C>T (p.Asp921=)
|
rs768967715
|
0.00001
|
NM_001283009.2(RTEL1):c.2769G>A (p.Lys923=)
|
rs2090788815
|
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.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.2868G>A (p.Val956=)
|
rs766435400
|
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.2937G>A (p.Arg979=)
|
rs768689934
|
0.00001
|
NM_001283009.2(RTEL1):c.2961G>A (p.Arg987=)
|
rs765696960
|
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.3012C>G (p.Pro1004=)
|
rs1331174859
|
0.00001
|
NM_001283009.2(RTEL1):c.3021C>T (p.Thr1007=)
|
rs762149661
|
0.00001
|
NM_001283009.2(RTEL1):c.3051C>T (p.Asp1017=)
|
rs748756306
|
0.00001
|
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=)
|
rs148099608
|
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.3120C>T (p.Gly1040=)
|
rs41298346
|
0.00001
|
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=)
|
rs762571471
|
0.00001
|
NM_001283009.2(RTEL1):c.3183C>T (p.Ser1061=)
|
rs573260461
|
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.3237C>T (p.Leu1079=)
|
rs1362593763
|
0.00001
|
NM_001283009.2(RTEL1):c.3246G>A (p.Ala1082=)
|
rs749570178
|
0.00001
|
NM_001283009.2(RTEL1):c.3276C>T (p.Leu1092=)
|
rs143869851
|
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.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.3499+13C>T
|
rs776151813
|
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.3534G>A (p.Gln1178=)
|
rs781484810
|
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.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.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.3801C>T (p.Ala1267=)
|
rs368388044
|
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.3823-4A>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.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.395+19del
|
rs780292704
|
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.456A>G (p.Lys152=)
|
rs373428530
|
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.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.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.567C>T (p.Ser189=)
|
rs773728236
|
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.654A>G (p.Gln218=)
|
rs1335062115
|
0.00001
|
NM_001283009.2(RTEL1):c.657C>T (p.Ala219=)
|
rs148367004
|
0.00001
|
NM_001283009.2(RTEL1):c.699+17G>A
|
rs757244305
|
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.765+10C>T
|
rs551599980
|
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.920-6G>C
|
rs754549270
|
0.00001
|
NM_001283009.2(RTEL1):c.924G>A (p.Leu308=)
|
rs767511395
|
0.00001
|
NM_001283009.2(RTEL1):c.9G>A (p.Lys3=)
|
rs746271642
|
0.00001
|
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.1014C>T (p.Asp338=)
|
rs2146211321
|
|
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.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.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.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.1038-8_1038-6del
|
rs1267375602
|
|
NM_001283009.2(RTEL1):c.1038-9C>T
|
|
|
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.1074G>A (p.Thr358=)
|
rs375256851
|
|
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.1107G>A (p.Leu369=)
|
rs1601138735
|
|
NM_001283009.2(RTEL1):c.1110C>T (p.Asp370=)
|
rs2090447523
|
|
NM_001283009.2(RTEL1):c.1119C>T (p.Ile373=)
|
rs2146217386
|
|
NM_001283009.2(RTEL1):c.1125C>T (p.His375=)
|
rs2090447629
|
|
NM_001283009.2(RTEL1):c.1128G>A (p.Leu376=)
|
|
|
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+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.1149C>T (p.Phe383=)
|
|
|
NM_001283009.2(RTEL1):c.1152C>T (p.Thr384=)
|
|
|
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+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.1192-7C>T
|
|
|
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.120G>A (p.Leu40=)
|
rs1555899465
|
|
NM_001283009.2(RTEL1):c.1212C>T (p.Pro404=)
|
|
|
NM_001283009.2(RTEL1):c.1233C>T (p.Ser411=)
|
|
|
NM_001283009.2(RTEL1):c.1242G>T (p.Gly414=)
|
|
|
NM_001283009.2(RTEL1):c.1248G>A (p.Gly416=)
|
|
|
NM_001283009.2(RTEL1):c.1252T>C (p.Leu418=)
|
|
|
NM_001283009.2(RTEL1):c.1257G>A (p.Gln419=)
|
rs2145411459
|
|
NM_001283009.2(RTEL1):c.1260C>A (p.Ser420=)
|
|
|
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+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.1269G>C (p.Val423=)
|
rs1486180842
|
|
NM_001283009.2(RTEL1):c.126C>T (p.Ser42=)
|
rs2090015969
|
|
NM_001283009.2(RTEL1):c.1275C>A (p.Ile425=)
|
|
|
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.1311G>A (p.Arg437=)
|
rs373693726
|
|
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.1332T>A (p.Thr444=)
|
rs753642100
|
|
NM_001283009.2(RTEL1):c.1332T>C (p.Thr444=)
|
|
|
NM_001283009.2(RTEL1):c.1344G>A (p.Lys448=)
|
rs755129499
|
|
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.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.1356G>A (p.Val452=)
|
|
|
NM_001283009.2(RTEL1):c.1365C>T (p.Tyr455=)
|
rs1189837200
|
|
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.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.1404C>T (p.Val468=)
|
|
|
NM_001283009.2(RTEL1):c.1407C>T (p.Arg469=)
|
|
|
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=)
|
rs117195545
|
|
NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)
|
|
|
NM_001283009.2(RTEL1):c.1443G>T (p.Thr481=)
|
|
|
NM_001283009.2(RTEL1):c.1449C>T (p.Ala483=)
|
|
|
NM_001283009.2(RTEL1):c.1452G>C (p.Pro484=)
|
rs201307924
|
|
NM_001283009.2(RTEL1):c.1458C>G (p.Ser486=)
|
|
|
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.1479G>A (p.Gln493=)
|
|
|
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+8C>A
|
|
|
NM_001283009.2(RTEL1):c.1482-14C>T
|
|
|
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>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.1509A>C (p.Pro503=)
|
|
|
NM_001283009.2(RTEL1):c.1515C>A (p.Ile505=)
|
rs2145420942
|
|
NM_001283009.2(RTEL1):c.153C>T (p.Cys51=)
|
|
|
NM_001283009.2(RTEL1):c.1542G>A (p.Gly514=)
|
rs116641785
|
|
NM_001283009.2(RTEL1):c.1548C>A (p.Val516=)
|
|
|
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.1554A>G (p.Arg518=)
|
rs2145421067
|
|
NM_001283009.2(RTEL1):c.1557C>A (p.Gly519=)
|
|
|
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.1578C>T (p.Ser526=)
|
rs1436538013
|
|
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+8C>T
|
|
|
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.1596-5T>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.1602C>G (p.Ser534=)
|
rs745339095
|
|
NM_001283009.2(RTEL1):c.1611C>T (p.Cys537=)
|
|
|
NM_001283009.2(RTEL1):c.1620C>T (p.Ser540=)
|
|
|
NM_001283009.2(RTEL1):c.1621C>T (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.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.1637-7C>T
|
|
|
NM_001283009.2(RTEL1):c.1637-8A>C
|
|
|
NM_001283009.2(RTEL1):c.1637-8A>G
|
|
|
NM_001283009.2(RTEL1):c.1647C>A (p.Ala549=)
|
rs2145422344
|
|
NM_001283009.2(RTEL1):c.1650C>G (p.Arg550=)
|
rs147825631
|
|
NM_001283009.2(RTEL1):c.1665G>A (p.Gly555=)
|
|
|
NM_001283009.2(RTEL1):c.1671G>A (p.Leu557=)
|
rs2145422444
|
|
NM_001283009.2(RTEL1):c.1674C>T (p.Ile558=)
|
rs1601164518
|
|
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.16C>T (p.Leu6=)
|
|
|
NM_001283009.2(RTEL1):c.1701G>A (p.Glu567=)
|
rs1480924155
|
|
NM_001283009.2(RTEL1):c.1710G>A (p.Leu570=)
|
rs2145422538
|
|
NM_001283009.2(RTEL1):c.1716C>T (p.Phe572=)
|
|
|
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+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+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.1728C>A (p.Arg576=)
|
rs754225573
|
|
NM_001283009.2(RTEL1):c.1728C>G (p.Arg576=)
|
|
|
NM_001283009.2(RTEL1):c.1743G>A (p.Lys581=)
|
|
|
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.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.1779G>A (p.Arg593=)
|
rs2145423376
|
|
NM_001283009.2(RTEL1):c.1788C>G (p.Gly596=)
|
rs1601165422
|
|
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+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.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.1821A>G (p.Ala607=)
|
rs2145425699
|
|
NM_001283009.2(RTEL1):c.1836T>G (p.Pro612=)
|
rs2145425776
|
|
NM_001283009.2(RTEL1):c.1839G>C (p.Gly613=)
|
|
|
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>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.1872G>C (p.Arg624=)
|
rs2145425931
|
|
NM_001283009.2(RTEL1):c.1872G>T (p.Arg624=)
|
rs2145425931
|
|
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.1879-5C>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.1890G>T (p.Gly630=)
|
|
|
NM_001283009.2(RTEL1):c.1893G>A (p.Leu631=)
|
rs752909114
|
|
NM_001283009.2(RTEL1):c.189C>G (p.Leu63=)
|
|
|
NM_001283009.2(RTEL1):c.1908G>C (p.Thr636=)
|
|
|
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.1938C>T (p.Leu646=)
|
|
|
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.1950A>C (p.Pro650=)
|
rs761454817
|
|
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.1974C>T (p.Leu658=)
|
|
|
NM_001283009.2(RTEL1):c.1987C>T (p.Leu663=)
|
|
|
NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)
|
|
|
NM_001283009.2(RTEL1):c.2007G>A (p.Gln669=)
|
rs2145428063
|
|
NM_001283009.2(RTEL1):c.2010T>G (p.Gly670=)
|
|
|
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+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.2026-8C>T
|
|
|
NM_001283009.2(RTEL1):c.2026-9G>A
|
rs1451108755
|
|
NM_001283009.2(RTEL1):c.2031C>T (p.Leu677=)
|
|
|
NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)
|
|
|
NM_001283009.2(RTEL1):c.2049C>T (p.Tyr683=)
|
rs745736556
|
|
NM_001283009.2(RTEL1):c.2052G>C (p.Arg684=)
|
rs2145428905
|
|
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.2082C>T (p.Ala694=)
|
rs2145428995
|
|
NM_001283009.2(RTEL1):c.2085C>A (p.Ile695=)
|
|
|
NM_001283009.2(RTEL1):c.2088G>A (p.Gly696=)
|
rs2145429023
|
|
NM_001283009.2(RTEL1):c.2088G>T (p.Gly696=)
|
|
|
NM_001283009.2(RTEL1):c.2091A>C (p.Arg697=)
|
rs2145429055
|
|
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.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.2142-4C>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.2148C>G (p.Ala716=)
|
rs2090696568
|
|
NM_001283009.2(RTEL1):c.2148C>T (p.Ala716=)
|
rs2090696568
|
|
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.2190C>G (p.Pro730=)
|
rs144933599
|
|
NM_001283009.2(RTEL1):c.21T>C (p.Asn7=)
|
|
|
NM_001283009.2(RTEL1):c.2208C>T (p.Asp736=)
|
rs1466033531
|
|
NM_001283009.2(RTEL1):c.2211C>T (p.Asn737=)
|
rs759047464
|
|
NM_001283009.2(RTEL1):c.2214T>C (p.Phe738=)
|
|
|
NM_001283009.2(RTEL1):c.2220T>C (p.His740=)
|
|
|
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.2235G>A (p.Val745=)
|
|
|
NM_001283009.2(RTEL1):c.2247C>T (p.Phe749=)
|
|
|
NM_001283009.2(RTEL1):c.2253T>C (p.Val751=)
|
|
|
NM_001283009.2(RTEL1):c.2256C>A (p.Ala752=)
|
|
|
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+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.2266-14C>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.2266-4G>A
|
|
|
NM_001283009.2(RTEL1):c.2266-6C>T
|
|
|
NM_001283009.2(RTEL1):c.2266-9G>A
|
rs917815049
|
|
NM_001283009.2(RTEL1):c.2280C>A (p.Ala760=)
|
|
|
NM_001283009.2(RTEL1):c.2283C>G (p.Pro761=)
|
|
|
NM_001283009.2(RTEL1):c.2283C>T (p.Pro761=)
|
rs1447604348
|
|
NM_001283009.2(RTEL1):c.2286G>C (p.Arg762=)
|
|
|
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)
|
rs116624637
|
|
NM_001283009.2(RTEL1):c.228G>T (p.Ala76=)
|
|
|
NM_001283009.2(RTEL1):c.2292A>G (p.Thr764=)
|
rs2090705028
|
|
NM_001283009.2(RTEL1):c.2295A>G (p.Ala765=)
|
|
|
NM_001283009.2(RTEL1):c.2298C>G (p.Pro766=)
|
|
|
NM_001283009.2(RTEL1):c.2304G>A (p.Val768=)
|
|
|
NM_001283009.2(RTEL1):c.2307T>C (p.Arg769=)
|
rs2145431775
|
|
NM_001283009.2(RTEL1):c.2322C>T (p.Val774=)
|
rs2145431842
|
|
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.2346C>T (p.Pro782=)
|
rs753928264
|
|
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.2370G>A (p.Lys790=)
|
rs553827008
|
|
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.2380C>T (p.Leu794=)
|
|
|
NM_001283009.2(RTEL1):c.2382G>A (p.Leu794=)
|
|
|
NM_001283009.2(RTEL1):c.2388C>T (p.Val796=)
|
|
|
NM_001283009.2(RTEL1):c.2391C>T (p.Pro797=)
|
|
|
NM_001283009.2(RTEL1):c.2394C>T (p.Ser798=)
|
rs2145432222
|
|
NM_001283009.2(RTEL1):c.2395C>T (p.Leu799=)
|
rs1601171872
|
|
NM_001283009.2(RTEL1):c.2397G>A (p.Leu799=)
|
|
|
NM_001283009.2(RTEL1):c.2413+12C>T
|
|
|
NM_001283009.2(RTEL1):c.2413+18T>C
|
|
|
NM_001283009.2(RTEL1):c.2413+22_2413+35dup
|
|
|
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.2421A>G (p.Pro807=)
|
|
|
NM_001283009.2(RTEL1):c.2430G>A (p.Gly810=)
|
rs760225851
|
|
NM_001283009.2(RTEL1):c.2433C>T (p.Asp811=)
|
|
|
NM_001283009.2(RTEL1):c.2436C>G (p.Pro812=)
|
|
|
NM_001283009.2(RTEL1):c.2439G>A (p.Glu813=)
|
|
|
NM_001283009.2(RTEL1):c.2451T>C (p.Cys817=)
|
|
|
NM_001283009.2(RTEL1):c.2454G>A (p.Val818=)
|
rs1568713512
|
|
NM_001283009.2(RTEL1):c.2466G>A (p.Gln822=)
|
|
|
NM_001283009.2(RTEL1):c.2469G>A (p.Glu823=)
|
rs1370303496
|
|
NM_001283009.2(RTEL1):c.2472A>C (p.Pro824=)
|
|
|
NM_001283009.2(RTEL1):c.2475T>C (p.Val825=)
|
|
|
NM_001283009.2(RTEL1):c.2484G>T (p.Arg828=)
|
|
|
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.2512C>T (p.Leu838=)
|
rs996529824
|
|
NM_001283009.2(RTEL1):c.2520C>T (p.His840=)
|
rs1299433246
|
|
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.2544T>A (p.Pro848=)
|
|
|
NM_001283009.2(RTEL1):c.2547C>G (p.Gly849=)
|
|
|
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+9C>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.2557-26_2557-10del
|
rs909213282
|
|
NM_001283009.2(RTEL1):c.2557-8C>T
|
rs200385247
|
|
NM_001283009.2(RTEL1):c.2559C>G (p.Ala853=)
|
|
|
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.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.2586G>A (p.Leu862=)
|
rs376383608
|
|
NM_001283009.2(RTEL1):c.2586G>C (p.Leu862=)
|
rs376383608
|
|
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.2601G>C (p.Pro867=)
|
|
|
NM_001283009.2(RTEL1):c.2613G>C (p.Pro871=)
|
|
|
NM_001283009.2(RTEL1):c.2613G>T (p.Pro871=)
|
rs758611174
|
|
NM_001283009.2(RTEL1):c.261A>C (p.Ser87=)
|
|
|
NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)
|
|
|
NM_001283009.2(RTEL1):c.2625G>A (p.Arg875=)
|
rs1601177031
|
|
NM_001283009.2(RTEL1):c.2628G>A (p.Lys876=)
|
|
|
NM_001283009.2(RTEL1):c.2638C>T (p.Leu880=)
|
|
|
NM_001283009.2(RTEL1):c.2643C>T (p.Val881=)
|
|
|
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+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.2658G>A (p.Glu886=)
|
rs775722854
|
|
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>C (p.Val888Leu)
|
rs200505378
|
|
NM_001283009.2(RTEL1):c.2670T>C (p.Gly890=)
|
rs750863266
|
|
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>T (p.Asp894=)
|
|
|
NM_001283009.2(RTEL1):c.2688C>G (p.Ala896=)
|
|
|
NM_001283009.2(RTEL1):c.2688C>T (p.Ala896=)
|
|
|
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.2706C>G (p.Ala902=)
|
rs116788553
|
|
NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)
|
|
|
NM_001283009.2(RTEL1):c.2715G>A (p.Gln905=)
|
rs1278177922
|
|
NM_001283009.2(RTEL1):c.2718G>A (p.Glu906=)
|
rs765888621
|
|
NM_001283009.2(RTEL1):c.2724C>T (p.Ser908=)
|
|
|
NM_001283009.2(RTEL1):c.2727A>G (p.Gln909=)
|
rs2145446108
|
|
NM_001283009.2(RTEL1):c.2730C>A (p.Ala910=)
|
|
|
NM_001283009.2(RTEL1):c.2730C>T (p.Ala910=)
|
rs1200841323
|
|
NM_001283009.2(RTEL1):c.2733C>T (p.Asn911=)
|
rs372027131
|
|
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.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>T (p.Phe915=)
|
rs1376717154
|
|
NM_001283009.2(RTEL1):c.2748C>G (p.Thr916=)
|
|
|
NM_001283009.2(RTEL1):c.2754C>G (p.Ala918=)
|
rs201754938
|
|
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.2760G>A (p.Gln920=)
|
rs1330703717
|
|
NM_001283009.2(RTEL1):c.2766C>T (p.Tyr922=)
|
rs1216056013
|
|
NM_001283009.2(RTEL1):c.2778T>C (p.Asp926=)
|
|
|
NM_001283009.2(RTEL1):c.2781C>T (p.Asp927=)
|
rs767158073
|
|
NM_001283009.2(RTEL1):c.2787C>A (p.Ala929=)
|
|
|
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.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.2802T>C (p.Cys934=)
|
|
|
NM_001283009.2(RTEL1):c.2808C>T (p.Gly936=)
|
rs774750824
|
|
NM_001283009.2(RTEL1):c.2811C>A (p.Pro937=)
|
rs1181105745
|
|
NM_001283009.2(RTEL1):c.2811C>G (p.Pro937=)
|
|
|
NM_001283009.2(RTEL1):c.2814C>G (p.Leu938=)
|
|
|
NM_001283009.2(RTEL1):c.2814C>T (p.Leu938=)
|
|
|
NM_001283009.2(RTEL1):c.2823G>A (p.Glu941=)
|
|
|
NM_001283009.2(RTEL1):c.2826C>T (p.Asp942=)
|
|
|
NM_001283009.2(RTEL1):c.2829C>A (p.Pro943=)
|
|
|
NM_001283009.2(RTEL1):c.2829C>T (p.Pro943=)
|
rs774862674
|
|
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=)
|
rs147040733
|
|
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.2851+10C>G
|
|
|
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+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+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.2852-13C>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.2852-5T>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.2853C>A (p.Gly951=)
|
rs763959402
|
|
NM_001283009.2(RTEL1):c.2853C>T (p.Gly951=)
|
|
|
NM_001283009.2(RTEL1):c.2856C>T (p.Phe952=)
|
rs1041575386
|
|
NM_001283009.2(RTEL1):c.2859C>T (p.Tyr953=)
|
rs1601184152
|
|
NM_001283009.2(RTEL1):c.285T>C (p.Ala95=)
|
|
|
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.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.2877C>T (p.His959=)
|
rs373996455
|
|
NM_001283009.2(RTEL1):c.2886G>A (p.Gln962=)
|
rs757018726
|
|
NM_001283009.2(RTEL1):c.2889G>A (p.Gln963=)
|
rs1274218203
|
|
NM_001283009.2(RTEL1):c.2895G>A (p.Glu965=)
|
|
|
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)
|
rs115464632
|
|
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.2907C>T (p.Ile969=)
|
|
|
NM_001283009.2(RTEL1):c.2910G>A (p.Gln970=)
|
rs766629738
|
|
NM_001283009.2(RTEL1):c.2913G>A (p.Leu971=)
|
rs2090805160
|
|
NM_001283009.2(RTEL1):c.2913G>C (p.Leu971=)
|
|
|
NM_001283009.2(RTEL1):c.2916A>G (p.Thr972=)
|
rs2090805293
|
|
NM_001283009.2(RTEL1):c.2920C>A (p.Arg974=)
|
rs398123017
|
|
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.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.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.2935C>A (p.Arg979=)
|
rs144034326
|
|
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=)
|
rs768689934
|
|
NM_001283009.2(RTEL1):c.2940T>G (p.Pro980=)
|
rs141618172
|
|
NM_001283009.2(RTEL1):c.2943G>A (p.Glu981=)
|
|
|
NM_001283009.2(RTEL1):c.2949C>T (p.Ser983=)
|
|
|
NM_001283009.2(RTEL1):c.294C>T (p.Asp98=)
|
rs2146149184
|
|
NM_001283009.2(RTEL1):c.2955C>G (p.Pro985=)
|
rs2090808224
|
|
NM_001283009.2(RTEL1):c.2956C>A (p.Arg986=)
|
|
|
NM_001283009.2(RTEL1):c.2958A>G (p.Arg986=)
|
|
|
NM_001283009.2(RTEL1):c.2964G>A (p.Gln988=)
|
rs1380817783
|
|
NM_001283009.2(RTEL1):c.2967G>A (p.Arg989=)
|
rs2090809210
|
|
NM_001283009.2(RTEL1):c.2970A>T (p.Ala990=)
|
|
|
NM_001283009.2(RTEL1):c.2973G>A (p.Gln991=)
|
rs748092893
|
|
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.2982G>A (p.Leu994=)
|
|
|
NM_001283009.2(RTEL1):c.2982G>C (p.Leu994=)
|
rs1187112291
|
|
NM_001283009.2(RTEL1):c.2985C>T (p.Asp995=)
|
rs762474261
|
|
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.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>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>C
|
|
|
NM_001283009.2(RTEL1):c.2992+18T>A
|
rs773890709
|
|
NM_001283009.2(RTEL1):c.2992+19G>A
|
|
|
NM_001283009.2(RTEL1):c.2992+20G>C
|
rs763328897
|
|
NM_001283009.2(RTEL1):c.2992+20G>T
|
|
|
NM_001283009.2(RTEL1):c.2992+8G>A
|
rs1236751268
|
|
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.2993-5A>T
|
|
|
NM_001283009.2(RTEL1):c.2993-6C>A
|
|
|
NM_001283009.2(RTEL1):c.2993-9C>G
|
rs1345171159
|
|
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.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+20C>T
|
rs1433016279
|
|
NM_001283009.2(RTEL1):c.301+8T>G
|
|
|
NM_001283009.2(RTEL1):c.301+9A>C
|
|
|
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.302-8C>T
|
|
|
NM_001283009.2(RTEL1):c.3021C>G (p.Thr1007=)
|
|
|
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.3033T>C (p.Ala1011=)
|
rs574653429
|
|
NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)
|
|
|
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.3045G>A (p.Gln1015=)
|
|
|
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=)
|
rs1601194528
|
|
NM_001283009.2(RTEL1):c.3060G>A (p.Glu1020=)
|
|
|
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>T (p.Asn1023=)
|
|
|
NM_001283009.2(RTEL1):c.306C>T (p.Cys102=)
|
|
|
NM_001283009.2(RTEL1):c.3075C>A (p.Gly1025=)
|
|
|
NM_001283009.2(RTEL1):c.3078G>A (p.Arg1026=)
|
|
|
NM_001283009.2(RTEL1):c.3081C>T (p.Pro1027=)
|
rs1601194720
|
|
NM_001283009.2(RTEL1):c.3085C>T (p.Leu1029=)
|
|
|
NM_001283009.2(RTEL1):c.3087G>T (p.Leu1029=)
|
|
|
NM_001283009.2(RTEL1):c.3090G>T (p.Ser1030=)
|
|
|
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.3109+18C>T
|
|
|
NM_001283009.2(RTEL1):c.3109+19G>C
|
|
|
NM_001283009.2(RTEL1):c.3109+9C>G
|
|
|
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.3110-4C>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.3114C>T (p.Asp1038=)
|
rs746139882
|
|
NM_001283009.2(RTEL1):c.3123C>T (p.Ser1041=)
|
|
|
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.3138G>T (p.Gly1046=)
|
|
|
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.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.3171G>A (p.Gln1057=)
|
rs2145474713
|
|
NM_001283009.2(RTEL1):c.3177C>A (p.Ala1059=)
|
rs539800902
|
|
NM_001283009.2(RTEL1):c.3180G>A (p.Val1060=)
|
|
|
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.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.321A>G (p.Pro107=)
|
|
|
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.3238T>C (p.Leu1080=)
|
rs2145475291
|
|
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.3264A>G (p.Gln1088=)
|
rs2145475545
|
|
NM_001283009.2(RTEL1):c.3276C>A (p.Leu1092=)
|
rs143869851
|
|
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.3286C>T (p.Leu1096=)
|
rs547956753
|
|
NM_001283009.2(RTEL1):c.3288G>C (p.Leu1096=)
|
rs2090933337
|
|
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=)
|
rs771667984
|
|
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=)
|
rs776426684
|
|
NM_001283009.2(RTEL1):c.3303C>T (p.Ala1101=)
|
|
|
NM_001283009.2(RTEL1):c.3304C>T (p.Leu1102=)
|
|
|
NM_001283009.2(RTEL1):c.3306G>A (p.Leu1102=)
|
|
|
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.3324G>A (p.Glu1108=)
|
rs1229398693
|
|
NM_001283009.2(RTEL1):c.3327C>T (p.Asp1109=)
|
|
|
NM_001283009.2(RTEL1):c.3330C>T (p.Phe1110=)
|
rs779425045
|
|
NM_001283009.2(RTEL1):c.3333C>G (p.Pro1111=)
|
|
|
NM_001283009.2(RTEL1):c.3334C>T (p.Leu1112=)
|
rs758775121
|
|
NM_001283009.2(RTEL1):c.3337C>T (p.Leu1113=)
|
rs2145476254
|
|
NM_001283009.2(RTEL1):c.3339G>C (p.Leu1113=)
|
|
|
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+18G>A
|
|
|
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.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.3344-6C>T
|
|
|
NM_001283009.2(RTEL1):c.3344-8C>G
|
|
|
NM_001283009.2(RTEL1):c.3344-8C>T
|
|
|
NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)
|
|
|
NM_001283009.2(RTEL1):c.3369C>T (p.His1123=)
|
rs2145477387
|
|
NM_001283009.2(RTEL1):c.3372C>T (p.His1124=)
|
rs2145477414
|
|
NM_001283009.2(RTEL1):c.3375G>A (p.Lys1125=)
|
rs1464913958
|
|
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)
|
rs368588082
|
|
NM_001283009.2(RTEL1):c.3384C>T (p.Phe1128=)
|
rs1431888088
|
|
NM_001283009.2(RTEL1):c.3390G>A (p.Gln1130=)
|
|
|
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.3414G>T (p.Arg1138=)
|
rs1217551424
|
|
NM_001283009.2(RTEL1):c.342G>A (p.Arg114=)
|
rs2146150765
|
|
NM_001283009.2(RTEL1):c.3441A>T (p.Gly1147=)
|
rs2145477908
|
|
NM_001283009.2(RTEL1):c.3447G>A (p.Gln1149=)
|
|
|
NM_001283009.2(RTEL1):c.3450G>A (p.Glu1150=)
|
rs2145477956
|
|
NM_001283009.2(RTEL1):c.3453G>A (p.Glu1151=)
|
|
|
NM_001283009.2(RTEL1):c.3456G>A (p.Arg1152=)
|
rs753433733
|
|
NM_001283009.2(RTEL1):c.3459T>G (p.Leu1153=)
|
rs2145478009
|
|
NM_001283009.2(RTEL1):c.345C>T (p.Thr115=)
|
|
|
NM_001283009.2(RTEL1):c.3480C>T (p.Thr1160=)
|
|
|
NM_001283009.2(RTEL1):c.3484A>C (p.Arg1162=)
|
|
|
NM_001283009.2(RTEL1):c.3489T>C (p.Ala1163=)
|
|
|
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+20G>C
|
|
|
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTA
|
rs2090945455
|
|
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.3500-12C>G
|
|
|
NM_001283009.2(RTEL1):c.3500-12C>T
|
rs747484884
|
|
NM_001283009.2(RTEL1):c.3500-19C>T
|
|
|
NM_001283009.2(RTEL1):c.3500-4C>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.3507A>G (p.Ser1169=)
|
rs2145479135
|
|
NM_001283009.2(RTEL1):c.3513C>G (p.Ser1171=)
|
rs138738109
|
|
NM_001283009.2(RTEL1):c.3516G>A (p.Glu1172=)
|
rs2145479225
|
|
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.3525G>A (p.Gly1175=)
|
|
|
NM_001283009.2(RTEL1):c.3528G>A (p.Lys1176=)
|
rs367598119
|
|
NM_001283009.2(RTEL1):c.3531C>T (p.Thr1177=)
|
rs2090951654
|
|
NM_001283009.2(RTEL1):c.3543C>T (p.Ile1181=)
|
rs748910434
|
|
NM_001283009.2(RTEL1):c.3546G>C (p.Ser1182=)
|
rs774018403
|
|
NM_001283009.2(RTEL1):c.354A>G (p.Gln118=)
|
|
|
NM_001283009.2(RTEL1):c.3555T>C (p.Leu1185=)
|
|
|
NM_001283009.2(RTEL1):c.3558A>G (p.Arg1186=)
|
rs2145479536
|
|
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.3594G>A (p.Glu1198=)
|
rs1440306935
|
|
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=)
|
rs200452563
|
|
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.3663T>C (p.His1221=)
|
|
|
NM_001283009.2(RTEL1):c.3666G>C (p.Gly1222=)
|
rs1408602214
|
|
NM_001283009.2(RTEL1):c.3675C>T (p.Ile1225=)
|
|
|
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.3700C>T (p.Pro1234Ser)
|
rs1207345139
|
|
NM_001283009.2(RTEL1):c.3702G>T (p.Pro1234=)
|
rs368176460
|
|
NM_001283009.2(RTEL1):c.3705C>T (p.Gly1235=)
|
|
|
NM_001283009.2(RTEL1):c.3709C>G (p.Pro1237Ala)
|
rs1455414990
|
|
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.3720A>G (p.Ala1240=)
|
|
|
NM_001283009.2(RTEL1):c.3723C>T (p.Gly1241=)
|
rs2145480579
|
|
NM_001283009.2(RTEL1):c.3741T>C (p.Cys1247=)
|
|
|
NM_001283009.2(RTEL1):c.3746C>T (p.Ala1249Val)
|
rs1601200584
|
|
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.3774T>C (p.Pro1258=)
|
rs2145480887
|
|
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>T (p.Asp1261=)
|
rs376313219
|
|
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.3810A>G (p.Gln1270=)
|
rs1017294740
|
|
NM_001283009.2(RTEL1):c.3813G>A (p.Arg1271=)
|
rs2145481166
|
|
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+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.3831G>A (p.Arg1277=)
|
rs2145482103
|
|
NM_001283009.2(RTEL1):c.3837C>T (p.Cys1279=)
|
|
|
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.3859A>C (p.Arg1287=)
|
rs1346607345
|
|
NM_001283009.2(RTEL1):c.3867G>A (p.Gln1289=)
|
|
|
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.3894G>A (p.Glu1298=)
|
rs1267242039
|
|
NM_001283009.2(RTEL1):c.3897C>T (p.Pro1299=)
|
rs771051288
|
|
NM_001283009.2(RTEL1):c.3900G>A (p.Gln1300=)
|
rs374244090
|
|
NM_001283009.2(RTEL1):c.390C>T (p.Ser130=)
|
|
|
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+20A>C
|
|
|
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.396-6C>A
|
rs778603711
|
|
NM_001283009.2(RTEL1):c.396-7C>T
|
|
|
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.423G>A (p.Arg141=)
|
|
|
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.471T>C (p.His157=)
|
rs2146154143
|
|
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>T
|
rs6010997
|
|
NM_001283009.2(RTEL1):c.477+20C>G
|
|
|
NM_001283009.2(RTEL1):c.477+20C>T
|
|
|
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.483C>T (p.His161=)
|
rs2090048149
|
|
NM_001283009.2(RTEL1):c.492T>G (p.Arg164=)
|
rs2146155614
|
|
NM_001283009.2(RTEL1):c.504A>G (p.Ala168=)
|
|
|
NM_001283009.2(RTEL1):c.519T>C (p.His173=)
|
rs2146155750
|
|
NM_001283009.2(RTEL1):c.522C>T (p.Phe174=)
|
|
|
NM_001283009.2(RTEL1):c.534A>G (p.Val178=)
|
|
|
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.539-17C>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.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.555G>A (p.Gln185=)
|
|
|
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.57A>G (p.Lys19=)
|
|
|
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.597G>A (p.Lys199=)
|
|
|
NM_001283009.2(RTEL1):c.600C>T (p.Ser200=)
|
rs771785679
|
|
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.615-15C>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.615-4C>G
|
|
|
NM_001283009.2(RTEL1):c.615-6del
|
|
|
NM_001283009.2(RTEL1):c.618G>A (p.Val206=)
|
rs181508842
|
|
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.639G>C (p.Arg213=)
|
rs2146176191
|
|
NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)
|
|
|
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.687G>A (p.Leu229=)
|
|
|
NM_001283009.2(RTEL1):c.688T>C (p.Leu230=)
|
|
|
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+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.723C>T (p.Asp241=)
|
rs755475482
|
|
NM_001283009.2(RTEL1):c.726G>C (p.Leu242=)
|
|
|
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)
|
rs919917378
|
|
NM_001283009.2(RTEL1):c.732G>T (p.Gly244=)
|
|
|
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.756T>C (p.Ala252=)
|
rs2146193395
|
|
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.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.834C>T (p.Val278=)
|
|
|
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.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.870G>T (p.Ala290=)
|
|
|
NM_001283009.2(RTEL1):c.87G>A (p.Leu29=)
|
|
|
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)
|
rs146100165
|
|
NM_001283009.2(RTEL1):c.903G>C (p.Ala301=)
|
|
|
NM_001283009.2(RTEL1):c.912C>A (p.Pro304=)
|
rs2090300245
|
|
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+36_919+126del
|
|
|
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.921G>C (p.Gly307=)
|
rs2146210729
|
|
NM_001283009.2(RTEL1):c.927C>T (p.Asn309=)
|
rs2146210742
|
|
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.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.959-17A>G
|
rs374694007
|
|
NM_001283009.2(RTEL1):c.959-17A>T
|
|
|
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.972C>G (p.Arg324=)
|
|
|