(used for mutation description)
(last modified April 29, 2014)
This file was created to facilitate the description of sequence variants in the C8B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering C8B transcript NM_000066.3.(upstream sequence) . . . . . . g.60 TCTTCCGATAGGAGACCTCACAGGCTAGGCCTTGGGATCCAACAGGACAGATGCAGTCAC c.60 S S D R R P H R L G L G I Q Q D R C S H p.20 | 02 . . . . . g.1576 AGCGTGATC | CTTTCAGGACAGGGACTCCATTTCCTTGGCAGGGAGCACAGTGGCAGGAAC c.120 S V I | L S G Q G L H F L G R E H S G R N p.40 g.1579 TAA c.123 X p.40 . . . . . . g.1639 cttccttctggaactcctccagtgcctgcttcatgttctgcctcactgtgctggaatagg c.*60 . . . . | 03 . . g.9059 caaaatctgtggctgtcactagttcatacagaggctccac | cttaactttgatgatggctg c.*120 . . . . . . g.9119 ggttgtactgcacagcgtctccccactcctgcatcaggtccgccgtcggcagctcctggt c.*180 . . . . . . g.9179 atgccagggtggtgatgtgctcacttgcccctcctcgtaccaggaccaccaagtcctcca c.*240 . . | 04 . . . . g.11922 ccatggtgtccctcttgtttctgt | cttttatttcattcagaatacctctgcatttgccta c.*300 . . . . . . g.11982 cagacacacccagactgacgtagacctcttcaatggcaccaccaattttaaaatcatttt c.*360 . . . | 05 . . . g.14038 tggcacaggcatggacgttgttaagagtataat | ctcctctctccatggcctctttgttca c.*420 . . . . . . g.14098 taacgagggtgtattcataaatgcccccaagcacagcctctgtgatgtagtgggtcccaa c.*480 . . . . . . g.14158 aatcacggaagagatctctgtattccccgtagctgtactccaggggcagccgcttaactc c.*540 . . . . . . g.14218 tctgaaggaactcgtaatggagcatgaggcttctgggtttcagcttgtaatgtgctactt c.*600 . . . | 06 . . . g.17771 caaggtcagagcgtgcatgcagaaatacgctttt | agtatgagagaatcgtttggttctcc c.*660 . . . . . . g.17831 taatatagtgtttgcctcgatcactttgactactgatgccaagttcaaatattccaggta c.*720 . . . . . . g.17891 ttttaaaaccaaaactgaaaccagacttgcttgccattttctctgtgacattgcgttcaa c.*780 . . . . . | 07 . g.20246 aatctgagtatgattcatactcttttaatatgaattcgtatttgccttgggt | ctgtggcg c.*840 . . . . . . g.20306 tgtagctttccacattgtagggcttcctaaacctcgtgttcaggatgtaatgcggggagc c.*900 . . . . . . g.20366 atccacctgcataatacctgtgatcaagaactgggccctcaaaactgtttgtgaacaaat c.*960 | 08 . . . . . . g.22931 ttatc | ccactggccagactgccaattccccagtattggtccatttcatgctgacattttt c.*1020 . . . . . . g.22991 tataaatccttctacagtttgcttcatctgactggtctccacagtcattgtccccattgc c.*1080 . . | 09. . . . g.24992 aaagaagtctgcggtttacacaccttc | ctgtctgtgcacacacaaagccttcacatcgca c.*1140 . . . . . . g.25052 cttgacttccgcatggtctgttggtaacacagtcttcgacttccttgtcagagaagttgc c.*1200 . . . . | 10 . g.28221 acggttccccatggaactgagagggctggagcaagtaggcatacctgta | ccttttcttct c.*1260 . . . . . . g.28281 gacaggggtcacatgtggtccaagaggaccaactagacagctcacaatcaatgggcatca c.*1320 . . . . . . g.28341 gggtaacatccacactccgcatctgtctgctcttagcaaagctcttgttgactgcatttg c.*1380 . . | 11 . . . . g.34081 acccaaaggaatgtggcctttcacct | ctggagccaggcaaactgagacagcccagggcag c.*1440 . . . . . . g.34141 cacagagaagaaatagctccaccggcgccctccaagcccatgtcctggaattcttcattt c.*1500 . . . . . . g.34201 tcccaatgtgacaggagatgccacagaggctgctagacccataacaagcctgtgctgtga c.*1560 . . . . . . g.34261 gtgccactgtcagcttctgtccccaagagcaaatagctctgcaaagtaaacagaaagcca c.*1620 . . . . . . g.34321 ctagtgactggaaacagactttgcacagaccaaaaacttacctgtcactctggaaaccaa c.*1680 . | 12 . . . . . g.34381 ccagaataat | c c.*1691 (downstream sequence)Legend:
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