Changes between Version 1 and Version 2 of Ticket #1229


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Timestamp:
Mar 6, 2020, 2:55:42 PM (4 years ago)
Author:
Nicklas Nordborg
Comment:

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  • Ticket #1229 – Description

    v1 v2  
    1313
    1414The list of interesting genes:
    15 
    1615 * PIK3CA
    1716 * AKT1
    … …  
    2221 * FOXA1
    2322 * CDH1
    24  * ESR1
     23 * MAP3K1
     24 * PTEN
     25 * KMT2C
     26 * TBX3
     27 * CBFB
     28 * ARID1A
     29 * RNF213
     30 * PLEC
     31 * RUNX1
     32 * TRPS1
     33 * ARHGAP35
     34 * NFIC
     35
     36The ESR1 gene is also interesting but here we should only import variants that are known drug resistance mutations.
     37
     38 * chr6:152011697:G>C // E380Q
     39 * chr6:152011733:G>A // V392I
     40 * chr6:152061020:ATGG>A // V422del
     41 * chr6:152094402:T>C // S463P
     42 * chr6:152098775:G>A // V533M
     43 * chr6:152098779:T>A //V534E
     44 * chr6:152098785:TC>AG //L536Q
     45 * chr6:152098785:T>C //L536P
     46 * chr6:152098785:T>G //L536R
     47 * chr6:152098787:T>G //Y537D
     48 * chr6:152098787:T>A //Y537N
     49 * chr6:152098788:A>C //Y537S
     50 * chr6:152098791:A>G //D538G
     51
     52The original list had some more variants, but they turned out to have unknown genomic positions.