(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the RTEL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering RTEL1 transcript NM_032957.4.
(upstream sequence)
. . . . g.1047
agtcagccctgctgccagccagtgccgggtgctggggactcagggag c.-781
. . . . . . g.1107
gcccgccgggaccactgcgggacagtgagccgagcagaagctggaacgcaggagaggaag c.-721
. . . . . . g.1167
gagagggggcggtcagggctctcaggagccgggtcctgggcaaggcgcagccgttttcaa c.-661
. . . . . . g.1227
attttcaggaaagcggtcggctcacactcgagcagtaaaaagatgcctctggggaggagg c.-601
. . . . . . g.1287
cccgtgcagctctccgggcaatggtggtggctcggcctagagaggcggtagtggaacgca c.-541
. . . . . . g.1347
gaccctggtgggggaatgacatcaagggaggagacgggcgggaccccagatttctgcctg c.-481
. . . . . . g.1407
tgggcgatggaagtgaggttcactggccagcggagccggacacagaacgcgcaaaacgcc c.-421
. . . . . . g.1467
gtgtaggcctggaggagccgaagagcaggcggaccccctccgcgggggaacagtttccgc c.-361
. . . . . . g.1527
cgggagcacaaagcaacggaccggaagtggggggcggaagtgcagtgggctcagcgccga c.-301
. . . . . . g.1587
ctgcgcgcctctgcccgcgaaaactctgagctggctgacagctggggacgggtggcggcc c.-241
. . . . . . g.1647
ctcgactggagtcggttgagttcctgagggaccccggttctggaaggttcgccgcggaga c.-181
. | 02 . . . . g.2473
caagtgagca | gtctgtgccatagggattctcgaagagaacagcgttgtgtcccagtgcac c.-121
. . . . . . g.2533
atgctcgcatcgcttaccaggagtgcccgagaccctaagatgttcggagtggttttttcg c.-61
. . . . . . g.2593
cacagacccgaatagcctgcccctcagccacgctctgtgcccttctgagaacaggctgat c.-1
. . . . . . g.2653
ATGCCCAAGATAGTCCTGAATGGTGTGACCGTAGACTTCCCTTTCCAGCCCTACAAATGC c.60
M P K I V L N G V T V D F P F Q P Y K C p.20
. . . . | 03 . . g.4506
CAACAGGAGTACATGACCAAGGTCCTGGAATGTCTGCAGCAG | AAGGTGAATGGCATCCTG c.120
Q Q E Y M T K V L E C L Q Q | K V N G I L p.40
. . . . . . g.4566
GAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGA c.180
E S P T G T G K T L C L L C T T L A W R p.60
. . . . . . g.4626
GAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTT c.240
E H L R D G I S A R K I A E R A Q G E L p.80
. . . . . . g.4686
TTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATA c.300
F P D R A L S S W G N A A A A A G D P I p.100
| 04 . . . . . . g.5099
G | CTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACA c.360
A | C Y T D I P K I I Y A S R T H S Q L T p.120
. . . | 05 . . . g.5689
CAGGTCATCAACGAGCTTCGGAACACCTCCTACCG | CTCACGCTGCAGGGCCACGCTGTGG c.420
Q V I N E L R N T S Y R | S R C R A T L W p.140
. . . . . . g.5749
GTGTTGGAGACAGCTCCTCCTCGACCCACGGTGCTCTCTCCCACCAGGCCTAAGGTGTGT c.480
V L E T A P P R P T V L S P T R P K V C p.160
. . . . . . g.5809
GTGCTGGGCTCCCGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACAAGAGAGTAAC c.540
V L G S R E Q L C I H P E V K K Q E S N p.180
| 06 . . . . . g.6070
CATCTACAG | ATCCACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAAC c.600
H L Q | I H L C R K K V A S R S C H F Y N p.200
. | 07 . . . . . g.9244
AACGTAGAAG | AAAAAAGCCTGGAGCAGGAGCTGGCCAGCCCCATCCTGGACATTGAGGAC c.660
N V E E | K S L E Q E L A S P I L D I E D p.220
. . | 08 . . . . g.10693
TTGGTCAAGAGCGGAAGCAAGCACAG | GGTGTGCCCTTACTACCTGTCCCGGAACCTGAAG c.720
L V K S G S K H R | V C P Y Y L S R N L K p.240
. . . . . | 09 . g.15755
CAGCAAGCCGACATCATATTCATGCCGTACAATTACTTGTTGGATGCCAAG | AGCCGCAGA c.780
Q Q A D I I F M P Y N Y L L D A K | S R R p.260
. . . . . | 10. g.17133
GCACACAACATTGACCTGAAGGGGACAGTCGTGATCTTTGACGAAGCTCACAACGTG | GAG c.840
A H N I D L K G T V V I F D E A H N V | E p.280
. . . . . . g.17193
AAGATGTGTGAAGAATCGGCATCCTTTGACCTGACTCCCCATGACCTGGCTTCAGGACTG c.900
K M C E E S A S F D L T P H D L A S G L p.300
. . . . . . g.17253
GACGTCATAGACCAGGTGCTGGAGGAGCAGACCAAGGCAGCGCAGCAGGGTGAGCCCCAC c.960
D V I D Q V L E E Q T K A A Q Q G E P H p.320
. . . | 11 . . . g.21364
CCGGAGTTCAGCGCGGACTCCCCCAGCCCAG | GGCTGAACATGGAGCTGGAAGACATTGCA c.1020
P E F S A D S P S P G | L N M E L E D I A p.340
. | 12 . . . . . g.21508
AAGCTGAAGA | TGATCCTGCTGCGCCTGGAGGGGGCCATCGATGCTGTTGAGCTGCCTGGA c.1080
K L K M | I L L R L E G A I D A V E L P G p.360
. . | 13 . . . g.23070
GACGACAGCGGTGTCACCAAGCCAGGGAG | CTACATCTTTGAGCTGTTTGCTGAAGCCCAG c.1140
D D S G V T K P G S | Y I F E L F A E A Q p.380
. . . . . . g.23130
ATCACGTTTCAGACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTG c.1200
I T F Q T K G C I L D S L D Q I I Q H L p.400
| 14. . . . . . g.23907
GCAGGAC | GTGCTGGAGTGTTCACCAACACGGCCGGACTGCAGAAGCTGGCGGACATTATC c.1260
A G R | A G V F T N T A G L Q K L A D I I p.420
| 15 . . . . . . g.28770
CAG | ATTGTGTTCAGTGTGGACCCCTCCGAGGGCAGCCCTGGTTCCCCAGCAGGGCTGGGG c.1320
Q | I V F S V D P S E G S P G S P A G L G p.440
. | 16 . . . . g.29023
GCCTTACAGTCCTATAAG | GTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAG c.1380
A L Q S Y K | V H I H P D A G H R R T A Q p.460
. . . . | 17 . . g.30848
CGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAG | GGAAGGTGCTGAGCTACTGG c.1440
R S D A W S T T A A R K R G | K V L S Y W p.480
. . . . . . g.30908
TGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATC c.1500
C F S P G H S M H E L V R Q G V R S L I p.500
. . . . . | 18 . g.31134
CTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGAT | CCCTTTC c.1560
L T S G T L A P V S S F A L E M Q I | P F p.520
. . . . . . g.31194
CCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTC c.1620
P V C L E N P H I I D K H Q I W V G V V p.540
. . . . | 19. . g.31342
CCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACG | GTTTTCCGAGGAG c.1680
P R G P D G A Q L S S A F D R R | F S E E p.560
. . | 20 . . . g.31523
TGCTTATCCTCCCTGGGGAAGGCTCTGG | GCAACATCGCCCGCGTGGTGCCCTATGGGCTC c.1740
C L S S L G K A L G | N I A R V V P Y G L p.580
. . . . . | 21 . g.31724
CTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGG | GCCCGC c.1800
L I F F P S Y P V M E K S L E F W R | A R p.600
. . . . . . g.31784
GACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGC c.1860
D L A R K M E A L K P L F V E P R S K G p.620
. | 22 . . . . . g.32293
AGCTTCTCCGAG | ACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGC c.1920
S F S E | T I S A Y Y A R V A A P G S T G p.640
. . . | 23 . . . g.32722
GCCACCTTCCTGGCGGTCTGCCGGGGCAAG | GCCAGCGAGGGGCTGGACTTCTCAGACACG c.1980
A T F L A V C R G K | A S E G L D F S D T p.660
. . . . . . g.32782
AATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTT c.2040
N G R G V I V T G L P Y P P R M D P R V p.680
. . . . . | 24. g.32943
GTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAG | TTC c.2100
V L K M Q F L D E M K G Q G G A G G Q | F p.700
. . . . . . g.33003
CTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGG c.2160
L S G Q E W Y R Q Q A S R A V N Q A I G p.720
. . . . . | 25 . g.33284
CGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAG | GTTCGCC c.2220
R V I R H R Q D Y G A V F L C D H R | F A p.740
. . . . . . g.33344
TTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGAC c.2280
F A D A R A Q L P S W V R P H V R V Y D p.760
. . . . . | 26. g.33487
AACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACT | ATG c.2340
N F G H V I R D V A Q F F R V A E R T | M p.780
. . . . . . g.33547
CCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAG c.2400
P A P A P R A T A P S V R G E D A V S E p.800
. . . . . . g.33607
GCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTC c.2460
A K S P G P F F S T R K A K S L D L H V p.820
. . | 27 . . . . g.34030
CCCAGCCTGAAGCAGAGGTCCTCAG | GGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTG c.2520
P S L K Q R S S G | S P A A G D P E S S L p.840
. . . . . . g.34090
TGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCC c.2580
C V E Y E Q E P V P A R Q R P R G L L A p.860
. . . . | 28 . g.34944
GCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAG | GCCCACAGCTGC c.2640
A L E H S E Q R A G S P G E E Q | A H S C p.880
. . . . . . g.35004
TCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAG c.2700
S T L S L L S E K R P A E E P R G G R K p.900
. . | 29 . . . . g.36031
AAGATCCGGCTGGTCAGCCACCCG | GAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCC c.2760
K I R L V S H P | E E P V A G A Q T D R A p.920
. . . . . . g.36091
AAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACC c.2820
K L F M V A V K Q E L S Q A N F A T F T p.940
. . . . . . g.36151
CAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGC c.2880
Q A L Q D Y K G S D D F A A L A A C L G p.960
. . . . | 30 . . g.36350
CCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAG | GCTTCTACCAGTTTGTG c.2940
P L F A E D P K K H N L L Q G | F Y Q F V p.980
. . . . . . g.36410
CGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGT c.3000
R P H H K Q Q F E E V C I Q L T G R G C p.1000
. . . . . . g.36470
GGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCC c.3060
G Y R P E H S I P R R Q R A Q P V L D P p.1020
| 31 . . . . . . g.37618
ACTG | GAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTG c.3120
T G | R T A P D P K L T V S T A A A Q Q L p.1040
. . . . . . g.37678
GACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACA c.3180
D P Q E H L N Q G R P H L S P R P P P T p.1060
| 32 . . . . . . g.37990
G | GAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGC c.3240
G | D P G S Q P Q W G S G V P R A G K Q G p.1080
. . . . . . g.38050
CAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGT c.3300
Q H A V S A Y L A D A R R A L G S A G C p.1100
. . . . . . g.38110
AGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTG c.3360
S Q L L A A L T A Y K Q D D D L D K V L p.1120
. . . . . | 33 . g.38261
GCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACA | GGTTC c.3420
A V L A A L T T A K P E D F P L L H R | F p.1140
. . . . . . g.38321
AGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACC c.3480
S M F V R P H H K Q R F S Q T C T D L T p.1160
. . . . . . g.38381
GGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCT c.3540
G R P Y P G M E P P G P Q E E R L A V P p.1180
. . . | 34 . . . g.38547
CCTGTGCTTACCCACAGGGCTCCCCAACCAG | GCCCCTCACGGTCCGAGAAGACCGGGAAG c.3600
P V L T H R A P Q P G | P S R S E K T G K p.1200
. . . . . . g.38607
ACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGC c.3660
T Q S K I S S F L R Q R P A G T V G A G p.1220
. . . . . . g.38667
GGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAG c.3720
G E D A G P S Q S S G P P H G P A A S E p.1240
| 35 . g.39024
TGGG | GCCTCTAG c.3732
W G | L X p.1243
. . . . . . g.39084
gatgtgcccagcctgccacaccgcctccaggaagcagagcgtcatgcaggtcttctggcc c.*60
. . . . . . g.39144
agagccccagtgagtgcccacggaggcccccagcacacccaacgtggcttgatcacctgc c.*120
. . . . . . g.39204
ctgtccagctctggtgggccaagaacccacccaacagaataggccagcccatgccagccg c.*180
. . . . . . g.39264
gcttggcccgctgcaggcctcaggcaggcggggcccatggttggtccctgcggtgggacc c.*240
. . . . . . g.39324
ggatctgggcctgcctctgagaagccctgagctaccttggggtctggggtgggtttctgg c.*300
. . . . . . g.39384
gaaagtgcttccccagaacttccctggctcctggcctgtgagtggtgccacaggggcacc c.*360
. . . . . . g.39444
ccagctgagcccctcaccgggaaggaggagacccccgtgggcacgtgtccacttttaatc c.*420
. . . . g.39492
aggggacagggctctctaataaagctgctggcagtgcccaggacggtg c.*468
(downstream sequence)
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