SI.No | Mutation change | Expt Name | PubMed | ||
1 | Insertion | Genomic: g.850_851insA CDS: c.130_131insA AnimoAcid: p.Trp44X |
Insertion | Fluorescent sequencing |
Klein C et al., 2007 |
2 | Substitutions | Genomic: g.976C>T CDS: c.256C>T AnimoAcid: p.Arg86X |
Substitutions | Fluorescent sequencing |
Klein C et al., 2007 |
3 | Substitutions | Genomic: g.2603C>T CDS: c.568C>T AnimoAcid: p.Gln190X |
Substitutions | Fluorescent sequencing |
Carlsson G et al., 2008 |
4 | Substitutions | Genomic: g.851G>A CDS: c.131G>A AnimoAcid: p.Trp44X |
Substitutions | Fluorescent sequencing |
Carlsson G et al., 2008 |
5 | Insertion | Genomic: g.850_851insA CDS: c.130_131insA AnimoAcid: p.Trp44X |
Insertion | Denaturing HPLC, Restriction enzyme analysis |
Smith BN et al., 2009 |
6 | Duplications | Genomic: g.845dupG CDS: c.125dupG AnimoAcid: p.Ser43LeufsX10 |
Duplications | Denaturing HPLC |
Smith BN et al., 2009 |
7 | Substitutions | Genomic: g.1323G>C CDS: c.428G>C AnimoAcid: p.Gly143Ala |
Substitutions | Denaturing HPLC |
Smith BN et al., 2009 |
8 | Deletion | Genomic: g.811delG CDS: c.91delG AnimoAcid: p.Glu31LysfsX53 |
Deletion | Denaturing HPLC, Restriction enzyme analysis |
Smith BN et al., 2009 |
9 | Duplications | Genomic: g.893dupC CDS: c.173dupC AnimoAcid: p.Glu59X |
Duplications | Direct sequencing |
Fahimzad A et al., 2008 |
10 | Substitutions | Genomic: g.976C>T CDS: c.256C>T AnimoAcid: p.Arg86X |
Substitutions | Fluorescent sequencing |
Ishikawa N et al., 2008 |
11 | Deletion | Genomic: g.1271_1329del CDS: c.376_434del AnimoAcid: p.Arg126fsX128 |
Deletion | Fluorescent sequencing |
Ishikawa N et al., 2008 |
12 | Deletion | Genomic: g.900delA CDS: c.180delA AnimoAcid: p.Glu60AspfsX25 |
Deletion | Direct sequencing |
Germeshausen M et al., 2008 |
13 | Duplications | Genomic: g.1325dupG CDS: c.430dupG AnimoAcid: p.Val144GlyfsX5 |
Duplications | Direct sequencing |
Germeshausen M et al., 2008 |
14 | Deletion | Genomic: g.1263_1276del14 CDS: c.368_381del14 AnimoAcid: p.Gln123LeufsX4 |
Deletion | Direct sequencing |
Germeshausen M et al., 2008 |
15 | Insertion | Genomic: g.850_851insA CDS: c.130_131insA AnimoAcid: p.Trp44X |
Insertion | Direct sequencing |
Germeshausen M et al., 2008 |
16 | Substitutions | Genomic: g.976C>T CDS: c.256C>T AnimoAcid: p.Arg86X |
Substitutions | Direct sequencing |
Matsubara K et al., 2007 |
17 | Insertion | Genomic: g.850_851insA CDS: c.130_131insA AnimoAcid: p.Trp44X |
Insertion | Direct sequencing |
Mamishi S et al., 2009 |
18 | Insertion | Genomic: g.1358_1359insC CDS: c.463_464insC AnimoAcid: p.Gln155ProfsX14 |
Insertion | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2010 |
19 | Duplications | Genomic: g.1325dupG CDS: c.430dupG AnimoAcid: p.Val144GlyfsX5 |
Duplications | Direct sequencing |
Xue SL et al., 2012 |
20 | Deletion | Genomic: g.2690_2694del5 CDS: c.655_659del5 AnimoAcid: p.Pro219TrpfsX13 |
Deletion | Direct sequencing |
Xue SL et al., 2012 |