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16 unique mutation(s) annotated from 8 PubMed(s)
Sl.No Mutation type Genomic level change CDS level change RNA level change Protein level change Mutation effects Expt. name PubMed Mutation viewer
1  Substitution    g.3189G>T    c.137G>T    -   p.Ser46Ile   Missense defects   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
2  Substitution    g.3189G>T    c.137G>T    -   p.Ser46Ile   Missense defects   Direct sequencing, PCR based assay   Auclair J et al., 2007 
  Click here 
3  Deletion    g.5067delA    c.182delA    -   p.Tyr61LeufsX14   Frameshift   Direct sequencing, PCR based assay   Etzler J et al., 2008 
  Click here 
4  Substitution    g.6517C>T    c.400C>T    -   p.Arg134X   Nonsense defects   Direct sequencing   De Vos M et al., 2004 
  Click here 
5  Substitution    g.10000G>T    c.705+1G>T    -   -   Splice donor defects   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
6  Deletion-Insertion    g.11714_11719delCCCCCTinsTGTGTGTGAAG    c.736_741delCCCCCTinsTGTGTGTGAAG    -   p.Pro246CysfsX2   Frameshift   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
7  Deletion-Insertion    g.11714_11719delCCCCCTinsTGTGTGTGAAG    c.736_741delCCCCCTinsTGTGTGTGAAG    -   p.Pro246CysfsX2   Frameshift   Direct sequencing, PCR based assay   Clendenning M et al., 2008 
  Click here 
8  Deletion    g.13474_13573del    c.804_903del    -   p.Tyr268X   Nonsense defects   Direct sequencing, PCR based assay, SSCP   Nakagawa H et al., 2004 
  Click here 
9  Deletion    g.13532_13533delCA    c.862_863delCA    -   p.Gln288ValfsX9   Frameshift   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
10  Deletion    g.21487_31519del    c.1145_2445del    -   p.Asn383AspfsX6   Frameshift   Direct sequencing, PCR based assay   Peron S et al., 2008 
  Click here 
11  Deletion    g.21563delG    c.1221delG    -   p.Thr408LeufsX39   Frameshift   Direct sequencing, SSCP   De Rosa M et al., 2000 
  Click here 
12  Substitution    g.22030G>T    c.1688G>T    -   p.Arg563Leu   Missense defects   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
13  Substitution    g.26115G>A    c.2007-1G>A    -   -   Splice acceptor defects   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
14  Substitution    g.26222G>A    c.2113G>A    -   p.Glu705Lys   Missense defects   Direct sequencing, PCR based assay   Clendenning M et al., 2006 
  Click here 
15  Deletion    g.30420_30421delTC    c.2184_2185delTC    -   p.Leu729GlnfsX5   Frameshift   Direct sequencing   De Vos M et al., 2004 
  Click here 
16  Deletion    g.30428_30432delTAACT    c.2192_2196delTAACT    -   p.Leu731CysfsX2   Frameshift   Direct sequencing, PCR based assay, SSCP   Nakagawa H et al., 2004 
  Click here 
17  Deletion    g.31435_31438delCTTC    c.2361_2364delCTTC    -   p.Phe788CysfsX1   Frameshift   Direct sequencing, SSCP   De Rosa M et al., 2000 
  Click here 
18  Substitution    g.31478C>T    c.2404C>T    -   p.Arg802X   Nonsense defects   Direct sequencing, PCR based assay   Peron S et al., 2008 
  Click here 
19  Substitution    g.31478C>T    c.2404C>T    -   p.Arg802X   Nonsense defects   Direct sequencing   De Vos M et al., 2004 
  Click here 
   

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