(used for mutation description)
(last modified February 12, 2011)
This file was created to facilitate the description of sequence variants in the COLQ gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009032.1, covering COLQ transcript NM_005677.3.
(upstream sequence)
g.5006
cacacg c.-121
. . . . . . g.5066
cacacacacacacacaaacacacgcgcacgcaaacagcagtgaggaagagaaaagcagag c.-61
. . . . . . g.5126
ataagcaaggctccgcagcagcctcctttctaacttgaccctcgccagaccctggccagc c.-1
. . . . . . g.5186
ATGGTTGTCCTGAATCCAATGACTTTGGGAATTTATCTTCAGCTTTTCTTCCTCTCTATC c.60
M V V L N P M T L G I Y L Q L F F L S I p.20
. . . . | 02 . . g.37128
GTGTCTCAGCCGACTTTCATCAACAGCGTTCTTCCAATCTCAGCAG | CCCTTCCCAGCCTG c.120
V S Q P T F I N S V L P I S A A | L P S L p.40
. . . . . . g.37188
GATCAGAAGAAGCGTGGTGGCCACAAAGCATGCTGCCTGCTGACGCCTCCTCCACCACCA c.180
D Q K K R G G H K A C C L L T P P P P P p.60
. . . | 03 . . g.38465
CTGTTCCCACCACCATTCTTCAGAGGTGGCCGAAGTCCG | CTTCTCTCCCCAGACATGAAG c.240
L F P P P F F R G G R S P | L L S P D M K p.80
. . . . . . g.38525
AATCTCATGCTGGAACTGGAGACCTCGCAGTCCCCGTGCATGCAAGGCTCGCTAGGCTCC c.300
N L M L E L E T S Q S P C M Q G S L G S p.100
. . | 04 . . . . g.47408
CCTGGGCCTCCCGGCCCCCAG | GGTCCACCGGGGCTTCCTGGCAAGACAGGACCAAAGGGA c.360
P G P P G P Q | G P P G L P G K T G P K G p.120
| 05 . . . | 06 . . . g.49581
GAAAAG | GGGGAGCTTGGCCGACCAGGAAGGAAG | GGTAGACCTGGCCCCCCAGGTGTTCCT c.420
E K | G E L G R P G R K | G R P G P P G V P p.140
. . . . | 07 . . g.51279
GGCATGCCTGGGCCCATCGGTTGGCCAGGCCCTGAAGGACCCAGG | GGTGAAAAAGGTGAC c.480
G M P G P I G W P G P E G P R | G E K G D p.160
. . . . | 08 . g.51812
CTGGGTATGATGGGCTTGCCAGGGTCAAGAGGACCAATGGGCTCCAAG | GGCTACCCTGGA c.540
L G M M G L P G S R G P M G S K | G Y P G p.180
. | 09 . . . . . g.52524
TCCAGAGGGGAAAAG | GGATCCAGAGGTGAAAAGGGTGACCTGGGTCCCAAAGGAGAAAAG c.600
S R G E K | G S R G E K G D L G P K G E K p.200
| 10 . . . | 11 . . . g.56159
| GGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAA | GGTGAAATGGGTCCAAAAGGTGAA c.660
| G F P G F P G M L G Q K | G E M G P K G E p.220
. . . . . | 12. g.60317
CCTGGGATAGCAGGACACCGAGGACCCACAGGAAGACCAGGAAAACGAGGCAAGCAG | GGA c.720
P G I A G H R G P T G R P G K R G K Q | G p.240
. . . . . . g.60377
CAGAAAGGGGATAGTGGAGTTATGGGCCCACCAGGCAAGCCTGGGCCTTCTGGTCAACCT c.780
Q K G D S G V M G P P G K P G P S G Q P p.260
. . . | 13 . . . g.68452
GGCCGTCCGGGGCCCCCAGGCCCCCCACCTGCAG | GACAACTTATAATGGGACCCAAAGGG c.840
G R P G P P G P P P A G | Q L I M G P K G p.280
. . . . . . g.68512
GAAAGAGGATTTCCCGGGCCTCCAGGAAGATGTCTTTGTGGACCCACTATGAATGTGAAT c.900
E R G F P G P P G R C L C G P T M N V N p.300
. . . . . | 14 . g.70178
AACCCTTCCTACGGGGAATCTGTGTATGGGCCCAGTTCCCCGCGAGTTCCTGTG | ATTTTT c.960
N P S Y G E S V Y G P S S P R V P V | I F p.320
. . . . . . g.70238
GTGGTCAACAACCAGGAGGAGCTTGAGAGGCTGAACACCCAAAACGCCATTGCCTTCCGC c.1020
V V N N Q E E L E R L N T Q N A I A F R p.340
. . . . . | 15 . g.70738
AGAGACCAGAGATCTCTGTACTTCAAGGACAGCCTTGGCTGGCTCCCCATCCAG | CTGACC c.1080
R D Q R S L Y F K D S L G W L P I Q | L T p.360
. . . . . . g.70798
CCTTTCTACCCTGTGGATTACACTGCAGACCAGCACGGCACCTGTGGGGATGGGCTCCTG c.1140
P F Y P V D Y T A D Q H G T C G D G L L p.380
. . . . . | 16 . g.72825
CAGCCTGGGGAGGAGTGTGACGACGGTAACAGCGATGTGGGTGACGACTGCATCC | GCTGT c.1200
Q P G E E C D D G N S D V G D D C I R | C p.400
. . . . . . g.72885
CACCGTGCCTACTGTGGAGATGGTCACCGGCATGAGGGTGTGGAGGACTGTGACGGCTCT c.1260
H R A Y C G D G H R H E G V E D C D G S p.420
. . . | 17 . . g.75060
GACTTTGGCTACCTGACATGCGAGACCTATCTCCCTGG | GTCATATGGAGACCTGCAATGC c.1320
D F G Y L T C E T Y L P G | S Y G D L Q C p.440
. . . . g.75108
ACCCAGTACTGCTACATCGACTCCACGCCCTGCCGCTACTTCACCTGA c.1368
T Q Y C Y I D S T P C R Y F T X p.455
. . . . . . g.75168
gggccgtgaggagaaggtgggctgcgccccacagaactggcagcagcttctccactgtca c.*60
. . . . . . g.75228
tcaaactggccatgtcctggccccgtctccaccaacctttgtgtgacaaaaacaaggaca c.*120
. . . . . . g.75288
aattcctgctactaagacatgctgttaactcagtctgactggaagaatttaggaccactg c.*180
. . . . . . g.75348
catcctgtcttaatccaaggtactggaaaaccttccacatgcccaacctgagacctgttc c.*240
. . . . . . g.75408
cccatcgctaccatttggccaaacaaccggctacaatgctcttcctcttctggaatgttg c.*300
. . . . . . g.75468
ctgacccaggccgtggacttggctgagcactgttagacacacacagacctgcaggctgtt c.*360
. . . . . . g.75528
ttagaatgttttgatctctttggggaatctggagtacaggcctctccgcccctgaccacc c.*420
. . . . . . g.75588
gaaacgtgcaggcattctcactcacactgggcagcccgctgtcgggtctctctaggccta c.*480
. . . . . . g.75648
tgaaccacaaagcagggaagtgggcacgttctctcggggtggctcacagctttgaacctg c.*540
. . . . . . g.75708
ccaaaggacccctcgactggccacagcccagcccagcctgacgtggatgtggctgcccag c.*600
. . . . . . g.75768
gaaaagacttaactgtgaaaaagtactgagaacccacctgacccaggcttgccccaagca c.*660
. . . . . . g.75828
gaggctagagaagaggctcctcttctcagtgtttcccaaaggggcggctcttgtggtttc c.*720
. . . . . . g.75888
aaaatctctggcaccatcttgacctcttggctctctctgcactttgccccctgtctcaaa c.*780
. . . . . . g.75948
aatgtccctcatgtccatttcctgtccaggagactcatgaggactgtgtgacctgcacaa c.*840
. . . . . . g.76008
gcccacacctgggcaggctgttggtgtctccttggtccttaggcagatactcccctgagt c.*900
. . . . . . g.76068
ccccgatctagggccagctgcagagggctctctctaggcagagcgttcctggccagagct c.*960
. . . . . . g.76128
ctacctctttgcctcctgctgacccctgacagcgtcccgtggcatttctttcatgtctgc c.*1020
. . . . . . g.76188
atattgcatagccttgtcctcctgtgtgcctgagctcctcccttttcaataagattatta c.*1080
. . . . . . g.76248
gtcgtgcatgtctgtgagctgcctttcatcaccatttttcctgagtagggcttagtttta c.*1140
. . . . . . g.76308
ttctggaaagacatctccaaggtgaggtccacccccacagcagacctcaagtagaaattg c.*1200
. . . . . . g.76368
cccaatttttaccagctggagggacacccttgggtttttgtacgaagctatttaatgagc c.*1260
. . . . . . g.76428
ctgtgtcttggggactcagcaggctggagcttggggcctggtggaccatcacctggtgtc c.*1320
. . . . . . g.76488
tgtaggtggacccggtctcccacaggtgacatcaacctgagggtggcgtctttagagaca c.*1380
. . . . . . g.76548
ggcacatgggcagccctgttcccttcgcctctactgcgaggcctggggagatgttgtttt c.*1440
. . . . . . g.76608
catgctgcttccaccatcacactggggtttctggatgggaaataaaaaaataaaggcagt c.*1500
. g.76619
tcatttcccca c.*1511
(downstream sequence)
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