(used for variant description)
(last modified April 29, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_014704.3 in the CEP104 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CEP104 transcript NM_014704.3.
(upstream sequence)
. . . . . g.5059
gcacgcgcagaggccctggcccagggctgggcttggttgtcatgagagtggaggctgcg c.-301
. . . . . . g.5119
gccggggctatgggcagaggtggccgggtctgcttcttccctgtcactgccgcagcagct c.-241
. . . . . . g.5179
tggggtgcaaggcggcctggggcggcggaaggggcgccccccgagttccgtctgaggaag c.-181
. . . . . . g.5239
cggcggctgccgaggaagtccacgagagccgggtcccgcacgcccctggggtccgggtgc c.-121
. . . . . . g.5299
tgaggcgccgcctggccgcctccccgggccgcggcaccgctccgacccagccgccctctc c.-61
. . . . . | 02 . g.9826
caccggggccgcggcagcgccagtcggggcccttccctctaagcag | cccaaacgtgcaga c.-1
. . . . . . g.9886
ATGCCCCACAAGATTGGATTTGTAGTCGTCAGCTCATCTGGACACGAAGACGGCTTCAGT c.60
M P H K I G F V V V S S S G H E D G F S p.20
. . . . . | 03 . g.13459
GCCCGGGAGCTCATGATCCACGCGCCAACTGTCAGTGGGTGGCGGTCACCTAG | ATTTTGC c.120
A R E L M I H A P T V S G W R S P R | F C p.40
. . . . . . g.13519
CAGTTTCCACAAGAAATTGTCCTTCAAATGGTGGAGAGATGTCGAATAAGGAAACTGCAG c.180
Q F P Q E I V L Q M V E R C R I R K L Q p.60
. . . . . . g.13579
TTACTTGCTCACCAGTATATGATTTCAAGTAAAATTGAGTTCTACATTAGTGAAAGCTTG c.240
L L A H Q Y M I S S K I E F Y I S E S L p.80
. . . . | 04. . g.14633
CCTGAATATTTTGCACCCTATCAAGCAGAGCGGTTTCGAAGACTTGG | CTACGTGTCTCTC c.300
P E Y F A P Y Q A E R F R R L G | Y V S L p.100
. . . . . . g.14693
TGTGATAATGAAAAGACAGGTTGCAAAGCCCGGGAACTAAAATCAGTTTATGTGGATGCA c.360
C D N E K T G C K A R E L K S V Y V D A p.120
. . . . . . g.14753
GTAGGACAATTTCTTAAACTGATTTTTCACCAAAACCATGTCAACAAATACAACATATAT c.420
V G Q F L K L I F H Q N H V N K Y N I Y p.140
| 05 . . . . . . g.16936
AATCAG | GTTGCTTTGGTTGCCATAAATATCATTGGAGACCCTGCAGATTTCAGTGATGAA c.480
N Q | V A L V A I N I I G D P A D F S D E p.160
| 06 . . . . . g.17301
AGCAATACT | GCCTCTCGAGAGAAGTTGATTGACCACTACCTTGGGCACAACAGCGAGGAC c.540
S N T | A S R E K L I D H Y L G H N S E D p.180
. . | 07 . . . . g.22491
CCTGCTCTAGAAGGAACGTACGCCAG | GAAATCTGACTATATCTCTCCGCTAGATGACTTA c.600
P A L E G T Y A R | K S D Y I S P L D D L p.200
. . . . . . g.22551
GCTTTTGATATGTACCAAGATCCAGAAGTTGCACAGATCATACGAAAATTAGATGAAAGA c.660
A F D M Y Q D P E V A Q I I R K L D E R p.220
. . . . . . g.22611
AAACGGGAAGCTGTCCAAAAGGAACGCTATGATTATGCCAAGAAACTAAAACAAGCCATT c.720
K R E A V Q K E R Y D Y A K K L K Q A I p.240
. | 08 . . . . . g.23159
GCTGATTTGCAAAAG | GTTGGTGAACGCCTTGGGAGGTATGAGGTAGAGAAACGCTGTGCC c.780
A D L Q K | V G E R L G R Y E V E K R C A p.260
. . . . . . g.23219
GTGGAGAAGGAAGACTACGATCTCGCCAAGGAGAAGAAGCAGCAGATGGAGCAGTATCGT c.840
V E K E D Y D L A K E K K Q Q M E Q Y R p.280
. . . . . | 09 . g.24723
GCCGAGGTGTACGAGCAGCTGGAGCTGCACAGCCTCCTGGATGCCGAGCTG | ATGCGAAGA c.900
A E V Y E Q L E L H S L L D A E L | M R R p.300
. . . . . . g.24783
CCTTTTGATTTGCCCCTCCAGCCCCTCGCTCGTTCTGGCAGTCCTTGCCACCAAAAGCCA c.960
P F D L P L Q P L A R S G S P C H Q K P p.320
. . . . . . g.24843
ATGCCCTCACTACCACAACTGGAAGAAAGAGGAACAGAAAACCAGTTTGCAGAACCTTTC c.1020
M P S L P Q L E E R G T E N Q F A E P F p.340
. . . . . . g.24903
CTTCAGGAAAAGCCTTCATCATATTCTCTAACTATTTCTCCTCAGCATTCTGCAGTAGAC c.1080
L Q E K P S S Y S L T I S P Q H S A V D p.360
. . . | 10 . . g.25562
CCGTTACTCCCTGCCACAGATCCTCATCCAAAGATCAAT | GCAGAGTCCCTGCCCTACGAT c.1140
P L L P A T D P H P K I N | A E S L P Y D p.380
. . . . . . g.25622
GAGCGGCCTCTTCCAGCTATTCGTAAGCATTATGGGGAGGCAGTGGTGGAGCCGGAAATG c.1200
E R P L P A I R K H Y G E A V V E P E M p.400
. . . . . . g.25682
AGTAATGCAGACATCAGCGATGCTCGGAGGGGAGGCATGTTAGGGGAGCCAGAGCCCTTA c.1260
S N A D I S D A R R G G M L G E P E P L p.420
. . . . . | 11. g.27144
ACCGAGAAGGCCTTGAGAGAAGCCAGCTCTGCCATCGATGTGTTGGGAGAAACCTTG | GTT c.1320
T E K A L R E A S S A I D V L G E T L | V p.440
. . . . . . g.27204
GCTGAGGCCTATTGTAAGACGTGGTCCTACCGAGAGGATGCACTGCTTGCCTTGTCTAAG c.1380
A E A Y C K T W S Y R E D A L L A L S K p.460
. . . . . . g.27264
AAGTTAATGGAAATGCCTGTTGGAACCCCAAAAGAAGATTTAAAGAACACACTGAGAGCA c.1440
K L M E M P V G T P K E D L K N T L R A p.480
. . . . | 12 . . g.28213
TCCGTCTTTCTCGTTAGAAGAGCCATAAAGGACATTGTGACCTCC | GTTTTTCAGGCTTCT c.1500
S V F L V R R A I K D I V T S | V F Q A S p.500
. . . . . . g.28273
TTGAAATTGTTGAAAATGATCATTACACAATATATTCCTAAACATAAACTGAGTAAACTT c.1560
L K L L K M I I T Q Y I P K H K L S K L p.520
. . . . . . g.28333
GAAACAGCTCACTGTGTGGAGAGGACCATTCCCGTTTTGCTCACCAGAACTGGAGATTCT c.1620
E T A H C V E R T I P V L L T R T G D S p.540
. . . | 13 . . g.31032
TCTGCCCGCCTCCGCGTCACAGCTGCAAATTTTATTCAG | GAAATGGCCTTGTTTAAAGAA c.1680
S A R L R V T A A N F I Q | E M A L F K E p.560
. . . . . . g.31092
GTTAAGTCTCTCCAAATTATTCCATCCTACCTGGTGCAGCCATTGAAAGCAAACTCTTCA c.1740
V K S L Q I I P S Y L V Q P L K A N S S p.580
. . . . . . g.31152
GTTCACCTGGCAATGAGTCAGATGGGCCTCCTGGCCCGGCTGCTGAAAGACCTGGGCACT c.1800
V H L A M S Q M G L L A R L L K D L G T p.600
. . . | 14 . . . g.32260
GGCAGCTCGGGCTTCACCATTGACAACGTGATGAAG | TTTTCAGTGAGTGCCCTGGAGCAT c.1860
G S S G F T I D N V M K | F S V S A L E H p.620
. . . . . . g.32320
AGAGTGTATGAGGTCCGCGAGACGGCGGTTCGAATTATTTTGGACATGTACAGACAGCAC c.1920
R V Y E V R E T A V R I I L D M Y R Q H p.640
. . . . . . g.32380
CAGGCTTCCATCCTGGAGTACCTTCCTCCAGACGACAGCAACACACGCAGGAACATTCTC c.1980
Q A S I L E Y L P P D D S N T R R N I L p.660
. . . . . . g.32440
TACAAAACAATTTTTGAGGGATTTGCTAAAATAGATGGCAGAGCTACAGATGCTGAGATG c.2040
Y K T I F E G F A K I D G R A T D A E M p.680
| 15 . . . . . . g.32917
AGG | GCACGGAGAAAAGCGGCTACAGAAGAAGCAGAAAAACAAAAGAAAGAAGAAATAAAA c.2100
R | A R R K A A T E E A E K Q K K E E I K p.700
. . . . . | 16 . g.35498
GCTTTACAAGGGCAGCTGGCAGCACTGAAAGAAATTCAGGCTGAAGTTCAG | GAAAAAGAA c.2160
A L Q G Q L A A L K E I Q A E V Q | E K E p.720
. . | 17 . . . g.35829
AGTGATGCTGTGAAGCCAAAGAATCAGG | ACATTCAAGGAGGGAAAGCAGCCCCTGCTGAA c.2220
S D A V K P K N Q D | I Q G G K A A P A E p.740
. . . | 18 . . . g.36392
GCTCTGGGAATCCCGGATGAGCACTATCTAGATAA | TTTGTGTATTTTTTGTGGGGAAAGG c.2280
A L G I P D E H Y L D N | L C I F C G E R p.760
. . . . . . g.36452
AGTGAATCCTTCACAGAGGAAGGTCTGGATCTCCACTACTGGAAGCACTGTCTCATGCTG c.2340
S E S F T E E G L D L H Y W K H C L M L p.780
. . | 19 . . . . g.38707
ACAAGATGTGACCACTGCAAACAG | GTGGTCGAGATATCCAGTCTGACGGAGCACTTGCTG c.2400
T R C D H C K Q | V V E I S S L T E H L L p.800
. . . . . . g.38767
ACGGAATGTGACAAAAAAGACGGGTTTGGAAAGTGTTACCGTTGCAGTGAGGCTGTTTTC c.2460
T E C D K K D G F G K C Y R C S E A V F p.820
. . . . | 20 . . g.39009
AAGGAAGAGCTGCCCAGACACATAAAACACAAGGATTGCAACC | CTGCCAAACCGGAGAAG c.2520
K E E L P R H I K H K D C N P | A K P E K p.840
. . . . . | 21 . g.45872
CTGGCAAACCGGTGTCCCCTGTGTCATGAGAACTTCAGCCCTGGAGAAGAG | GCATGGAAA c.2580
L A N R C P L C H E N F S P G E E | A W K p.860
. . . . . . g.45932
GCTCACCTGATGGGCCCAGCCGGCTGCACGATGAACCTGCGCAAGACACACATTCTGCAG c.2640
A H L M G P A G C T M N L R K T H I L Q p.880
. . | 22 . . . . g.46754
AAGGCCCCGGCACTGCAGCCAG | GGAAAAGCTCAGCTGTGGCCGCATCAGGCCCCTTGGGG c.2700
K A P A L Q P G | K S S A V A A S G P L G p.900
. . . . . . g.46814
TCAAAGGCCGGAAGCAAGATCCCCACCCCGAAGGGCGGACTGAGCAAGAGCTCCAGCAGG c.2760
S K A G S K I P T P K G G L S K S S S R p.920
. g.46832
ACGTACGCCAAGCGCTGA c.2778
T Y A K R X p.925
. . . . . . g.46892
cgcggcgctcgggctccttggtctctgtgagggatggagcgggtctcctgattctacacc c.*60
. . . . . . g.46952
atctctccagaactctctggccttggtggccccatgctctggctgctgtccccagctccc c.*120
. . . . . . g.47012
cgccgtgcacgcctcttacgcgtctgtgccgtcagctctcgtgcaaacgatatggatgca c.*180
. . . . . . g.47072
gctaaccaaagatcctgcgtgcagtgccaggacctggccgcactgtacattaagccttca c.*240
. . . . . . g.47132
gggctgtctcaggccttccttagaatcagagaaggaagcgtcctgtttggagagagccag c.*300
. . . . . . g.47192
agagcaccgccgggaggcgctcgcgcaaggccacggtcagcacaggcacggtcccgcttt c.*360
. . . . . . g.47252
ccttagtgcttggagcaatttccataaaacattcaccagaaaccttttgcacatcggtct c.*420
. . . . . . g.47312
ctgccacacgcagtagaatttccgcagggctgtggctcggccagcagcggttccaggaga c.*480
. . . . . . g.47372
gtggcggtgcgcacgggcctccagccgtgccttccccctgcaggccccgtctgctgggcc c.*540
. . . . . . g.47432
tgctgcccagtgcactcagccccaggtagcagaactcacgttcccactatagcaagaaat c.*600
. . . . . . g.47492
aaaggcaaaagagaacatcttttttttaatcgtagtttttttgagaattggtcccacctc c.*660
. . . . . . g.47552
agccgcaccttgctggatgcttctccagtagtgctgcccctgtgacaggcatcagctccc c.*720
. . . . . . g.47612
tgctggaactgaggtagacacaggtgtgggcccttcccgtgcctttgctcagaggcgctt c.*780
. . . . . . g.47672
cactttctccacactttcgaattcctaaagacatgtggaggaagtcactgttaaatgaat c.*840
. . . . . . g.47732
ttccacctgatcaccctgtgttcacagcaggcagaagcccactggtatgggcctcccgcc c.*900
. . . . . . g.47792
ccttccacatccatgttgtgattggatccataagtttactttcttcaaagagttgatagg c.*960
. . . . . . g.47852
atgtttaaaacatcaacacattgcttaaaatgatgaaaccaaccctcaaaaaacagtctc c.*1020
. . . . . . g.47912
ctaaccagccatcccctcctgtgggagtgagctgggggttttgtccatagctttggttgg c.*1080
. . . . . . g.47972
gcctgtgtcacatccaggcagccatgtggagggagtcagggtctgtctggaagcatccac c.*1140
. . . . . . g.48032
cctctcgctgccccagcctgtgctcccaggggcctaggctaccatggactgaagggcagt c.*1200
. . . . . . g.48092
cccctcccacctggtgcccagggcttctgcttgcctcgctgatgttgcatgggcagactt c.*1260
. . . . . . g.48152
caaaaaggatagttagaaaggtttgggttgatggagtttgcattaatgcaattagtgtat c.*1320
. . . . . . g.48212
aaatatgttttaattgccaaccgtgtgaaacaacaaaatatctaaaaactaatcccgatt c.*1380
. . . . . . g.48272
tgaacaatgtactccctggcctggatacattaataaccataaatttgcatgaattaatct c.*1440
. . . . . . g.48332
ccacgtttggtaaactaatacctctggttgactgagaatactgagtaagatataagacct c.*1500
. . . . . . g.48392
accaggaacctttaagaatatgctctgctcagtgttgtttgtctgcttgtttgcgacgga c.*1560
. . . . . . g.48452
gtctcactgtgtcgcccgggctgcagtgcaatggcgtgatcttggctcacagtaacctcc c.*1620
. . . . . . g.48512
acctcctgggttcaagcaattctcctgcctcagcctccctagtagctgggattacaggtg c.*1680
. . . . . . g.48572
cacaccaccatgctcggctaattttttctatttttagtagagatggggtttcaccatgtt c.*1740
. . . . . . g.48632
ggccaggctggtctcgaactcgtgacctcataatctgcccaccttggcctcccaaagtgc c.*1800
. . . . . . g.48692
tgggattacaggcgtgagccaccacgcccaggttaaatgtgtttataaggagagaggagg c.*1860
. . . . . . g.48752
ccaggcgcggtggctcacgctgtaatcccagcactttgggaggccgaggcgggcggacca c.*1920
. . . . . . g.48812
cctgaggtcaggagttcgagaccagcctggccaacatggtgaaaccccatctctactaaa c.*1980
. . . . . . g.48872
aatacaaaaatgagccaggcgtggtggcctgtagtcccagctacttgagaggctgaggca c.*2040
. . . . . . g.48932
ggaaaattgcttgaacccgggaggtggaggttgcattgagcccacatcatgccattgcac c.*2100
. . . . . . g.48992
tccagcccaggcgacagagcgagactccgtctcgaaaaaaaaaaaaagtataaggagaga c.*2160
. . . . . . g.49052
aataactttaaagtttattagacaaaacagagtatagatgccaagatgtctgtaaaatga c.*2220
. . . . . . g.49112
ttttttctggttttaaagagatgttggccattattttctaatccatttttaaaatacaga c.*2280
. . . . . . g.49172
caaaacacttctttaaacagaacaagaatgagaaaagttaaccaaggaattattcttttc c.*2340
. . . . . . g.49232
tcaccaatcaacacttttaagaaatatatatatatatatacacacatatacacatgcctt c.*2400
. . . . . . g.49292
ctatatattgtaacttaaagaaaatacttataaaaagacttcatttttagtgattgacaa c.*2460
. . . . . . g.49352
gcaaacgggttcatttaaaacaggttcctcttttgttagttacagggggtttttttgttg c.*2520
. . . . . . g.49412
tttttttgtttttgtttttgttttgcgggggtggtggggtttgagacggagtcttgctct c.*2580
. . . . . . g.49472
gttgcctaggctggagtgcagtggcgcgatcttggccccctgcaacctccgcctcccggg c.*2640
. . . . . . g.49532
ttcgagcaattctcctgcctcagcctcccgagtagctgggattacaggcgtgtgtcacca c.*2700
. . . . . . g.49592
cgcctggctaatttttttgtatttttagtagagacggggtttcaccatattggccaggct c.*2760
. . . . . . g.49652
ggtctcaaactcctgaccttgtgatccacccacctcggcctcccaaagtgctggaattac c.*2820
. . . . . . g.49712
aggcatgagccaccgcgcccggcccaatcatgtgtttttgttgaaatgatcctaccagtg c.*2880
. . . . . . g.49772
attagtggctattgagagttttacagggttatacattgttaagggaccaagaatcaagta c.*2940
. . . . . . g.49832
caaaaaattaaaaaggaactgtaaaatcccttggtcattcataaataaatatctaaatta c.*3000
. . . . . . g.49892
ggaatactaattaattgaattttcactcatgagtatgttctgaatatttaatatttattt c.*3060
. . . . . . g.49952
ctattattttcatatgttaagatattccattaaatctaacttaaaagaattgtatgtata c.*3120
. . . . . . g.50012
aattggcattaggatacaaatgtaaatgtttttaatgaaattttgcaactttttaatatt c.*3180
. . . . . . g.50072
ttaacatagttttctatttgtctttatttcaagtaccagaattacaaaatatctaagtaa c.*3240
. . . . . . g.50132
tatatttttgttgtcgttttagggcttaagggttaattcacccagagtatattaatataa c.*3300
. . g.50153
taaaaagatcactaaatgttt c.*3321
(downstream sequence)
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