(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MRE11A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering MRE11A transcript NM_005591.3.(upstream sequence) g.9 CTCACTTGA c.9 L T X p.2 . . . . . . g.69 ttcaaaatcaacccctttcgatacttgactctgggacatgattttgctggatgatgtgct c.*60 | 02. . . . . . g.5974 ggaccac | ctttgatctgtctttgaagtggtaggaaaaatgtcttcttccacatctgattc c.*120 . | 03 . . . . . g.7311 atctacctcaatcac | ctctgaataattcttagtagtgacatttcgggaaggctgctgtct c.*180 . | 04 . . . . . g.15945 tgtagatttaaagg | catctataatagacatatttctagatgctgacacagcagtctttga c.*240 . . . | 05 . . g.17330 gttcctgctacgggtagaagtctccagaccagtgtctg | ctcttcctctttgagaccctcc c.*300 . . . . . . g.17390 tctcgatgctgaattctgccctcttccacctcttcgacctcttcctcggcctcttccttt c.*360 . . . . . . g.17450 gttggttgctgctgagatgctatcatcagagtcattagccatctgttctgctaaatctat c.*420 . . . . . . g.17510 actcataaggtcatcagcactaaaggcagaagcagactcctctgactgagatctgagtgc c.*480 . | 06 . . . . g.26407 tctggccctggtcatagc | ctcacggacttcatcatcttcttcattagtatttttttgtct c.*540 . . | 07 . . . . g.29536 ggtttctctgaaacgacgtac | ctcctcatcgattttgtcttcgagggcatcaatatgacg c.*600 . . . . . . g.29596 ttctttaagaaatcgctgtgttttttccaactggtatttcactaattcctcaatggcatc c.*660 . . . . . . g.29656 tttctcctccttgtccacaaattcttgtactgcttcacccatccctctttctgttagcag c.*720 . | 08 . . . . . g.31070 tgagagctgcacatt | cttctctgcggtttgaaagtactgttttacaagatcttctaccct c.*780 . . . . . | 09 . g.34206 taaagttgttccttctgaaggctttgtgataagtttcccaaagttgatctcttctc | ctgt c.*840 . . . . . . g.34266 tttttccttttgttctctatgcctgaaaaaatggataatgtcttttggattagctacccg c.*900 . . . . . . g.34326 atccacaaatttctggctaaagcgaagaacactgaaaggttcaaaacctccactatagtc c.*960 | 10 . . . . . . g.37959 cac | tcgcagtcgtacaagaggcttctctggctggtgagaattacccagacgttcccgttc c.*1020 . . | 11 . . . . g.40596 agcattttcaagcatttcttcaat | cttctccaaacagaagctttgtatggcttgggttac c.*1080 . . . . . . g.40656 tttaggattatctgggttaaaaatgtctggatgattagctagaacaatatcctccatgaa c.*1140 . . . . . . g.40716 aaactgccgcactgtgtgaagaggaattttatgcatattcatcttcctccctttaatacg c.*1200 . | 12 . . . . . g.41707 cagcaaaccaacatgt | ttctttacagcttctcctggggaaagagaagtaaccactgagct c.*1260 . . . . . . g.41767 tccaggttgtgagatataaaacagctgttgttcatttttggttggagctattttacactc c.*1320 . . . . . . g.41827 atgttcatggccccagataacaagatcaatgaagtcatccaaaaattgttctggaatgaa c.*1380 . . | 13 . . . . g.46416 gttagtacttccatgtttactc | ctgttctgatgaatcacaaataagttaaaccaagagtt c.*1440 . . . . . . g.46476 ctcatcttcctttggtctcaacattgttacttttttattgacaaacattcgatagagcct c.*1500 . | 14. . . . . g.48867 ttcatctggaatggatc | ctaaaccatatagcgcaatctttgtgcttcctttttgaagcaa c.*1560 . . . . . . g.48927 aaccggactaatgtctatcttctccacagacattgaacgtccaaagtgatttacaaatcc c.*1620 . . . | 15 . . g.49784 agcacaacttaaaatgtccaaggcacaaagtgcatctgc | ccctgtgggatcgtcatgatt c.*1680 . . . . . . g.49844 gccatgaatactaaacactggaattgaaatgttgaggttgccatcttgatagttcaccca c.*1740 | 16. . . . . . g.56066 tggaaac | ttactaaaaccaaagttgactgactgatcactgagaatttcaaactggacagg c.*1800 . . . . . . g.56126 ccgatcacccatacaatattttcttaataactcgaggcaggtatgtaatgttttccttga c.*1860 . . . . | 17 . g.60934 gggcttattttcatgaaaaagatcaccacctaacaaaataaaatccac | ttcattttcctg c.*1920 . . . . . . g.60994 ggcaagtcttaaaatttcatcgagtgttacaaacgtatcatttcctctgactgcatcttt c.*1980 . . . . . . g.61054 ctccataaatccaagatgaatatctgttgcaactaatattttaaatgtgttttcatcatc c.*2040 | 18 . . . . . . g.62930 a | agtgcatctgcagtactcatttttatggtcagtcaagctcctctgggaccaggttcttc c.*2100 . . . . . . g.62990 tccaagaacccctgggtactgtactcaaatgtcagaaaatgcactcgattccaaattcta c.*2160 | 19 . . . . . . g.63934 gaaatt | ctctgagaacccgcagggccgtaaacctgaattccgcgggagagaacggcgtcc c.*2220 . . . | 20 . . . g.63994 gtttctctcgcgacacttcatggataacgt | a c.*2251 (downstream sequence)Legend:
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