SI.No | Mutation change | Expt Name | PubMed | ||
1 | Deletion | Genomic: g.4806delG CDS: c.712delG AnimoAcid: p.Val238fs |
Deletion | Fluorescent sequencing |
Noordzij JG et al., 2002 |
2 | Substitutions | Genomic: g.5536A>C CDS: c.1442A>C AnimoAcid: p.His481Pro |
Substitutions | Fluorescent sequencing |
Noordzij JG et al., 2002 |
3 | Substitutions | Genomic: g.5451T>A CDS: c.1357T>A AnimoAcid: p.Trp453Arg |
Substitutions | Fluorescent sequencing |
Noordzij JG et al., 2002 |
4 | Substitutions | Genomic: g.4140C>T CDS: c.46C>T AnimoAcid: p.Gln16X |
Substitutions | Fluorescent sequencing |
Noordzij JG et al., 2002 |
5 | Substitutions | Genomic: g.4209A>G CDS: c.115A>G AnimoAcid: p.Arg39Gly |
Substitutions | Direct sequencing |
Corneo B et al., 2000 |
6 | Substitutions | Genomic: g.4780G>A CDS: c.686G>A AnimoAcid: p.Arg229Gln |
Substitutions | Direct sequencing |
Corneo B et al., 2000 |
7 | Substitutions | Genomic: g.4198G>T CDS: c.104G>T AnimoAcid: p.Gly35Val |
Substitutions | Direct sequencing |
Corneo B et al., 2000 |
8 | Substitutions | Genomic: g.5527G>A CDS: c.1433G>A AnimoAcid: p.Cys478Tyr |
Substitutions | Direct sequencing, SSCP |
Schwarz K et al., 1996 |
9 | Substitutions | Genomic: g.4780G>A CDS: c.686G>A AnimoAcid: p.Arg229Gln |
Substitutions | Dideoxy fingerprinting |
Signorini S et al., 1999 |
10 | Substitutions | Genomic: g.4780G>A CDS: c.686G>A AnimoAcid: p.Arg229Gln |
Substitutions | Direct sequencing, SSCP |
Schwarz K et al., 1996 |
11 | Substitutions | Genomic: g.4779C>T CDS: c.685C>T AnimoAcid: p.Arg229Trp |
Substitutions | Restriction enzyme analysis |
Tabori U et al., 2004 |
12 | Substitutions | Genomic: g.4377G>A CDS: c.283G>A AnimoAcid: p.Gly95Arg |
Substitutions | Direct sequencing |
Tabori U et al., 2004 |
13 | Substitutions | Genomic: g.4198G>T CDS: c.104G>T AnimoAcid: p.Gly35Val |
Substitutions | Direct sequencing |
Tabori U et al., 2004 |
14 | Substitutions | Genomic: g.4738C>T CDS: c.644C>T AnimoAcid: p.Thr215Ile |
Substitutions | Direct sequencing |
Tabori U et al., 2004 |
15 | Substitutions | Genomic: g.4377G>A CDS: c.283G>A AnimoAcid: p.Gly95Arg |
Substitutions | Direct sequencing |
Gomez CA et al., 2000 |
16 | Substitutions | Genomic: g.5451T>A CDS: c.1357T>A AnimoAcid: p.Trp453Arg |
Substitutions | Direct sequencing |
Gomez CA et al., 2000 |
17 | Deletion | Genomic: g.4911_4913delATT CDS: c.817_819delATT AnimoAcid: p.Ile273del |
Deletion | Direct sequencing |
Gomez CA et al., 2000 |
18 | Substitutions | Genomic: g.4573C>T CDS: c.479C>T AnimoAcid: p.Ser160Leu |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
19 | Substitutions | Genomic: g.5598A>G CDS: c.1504A>G AnimoAcid: p.Met502Val |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
20 | Substitutions | Genomic: g.5341G>T CDS: c.1247G>T AnimoAcid: p.Trp416Leu |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
21 | Deletion | Genomic: g.4452delG CDS: c.358delG AnimoAcid: p.Val120LeufsX11 |
Deletion | Direct sequencing |
Sobacchi C et al., 2006 |
22 | Substitutions | Genomic: g.4779C>T CDS: c.685C>T AnimoAcid: p.Arg229Trp |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
23 | Substitutions | Genomic: g.4198G>T CDS: c.104G>T AnimoAcid: p.Gly35Val |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
24 | Substitutions | Genomic: g.5414A>C CDS: c.1320A>C AnimoAcid: p.Lys440Asn |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
25 | Substitutions | Genomic: g.4852C>G CDS: c.758C>G AnimoAcid: p.Pro253Arg |
Substitutions | Direct sequencing |
Sobacchi C et al., 2006 |
26 | Substitutions | Genomic: g.5426C>G CDS: c.1332C>G AnimoAcid: p.Ile444Met |
Substitutions | Direct sequencing |
Alsmadi O et al., 2009 |
27 | Substitutions | Genomic: g.4473A>T CDS: c.379A>T AnimoAcid: p.Lys127X |
Substitutions | Direct sequencing |
Alsmadi O et al., 2009 |
28 | Substitutions | Genomic: g.4104C>T CDS: c.10C>T AnimoAcid: p.Gln4X |
Substitutions | Direct sequencing |
Alsmadi O et al., 2009 |
29 | Substitutions | Genomic: g.4675C>A CDS: c.581C>A AnimoAcid: p.Ser194X |
Substitutions | Direct sequencing |
Sadeghi-Shabestari M et al., 2009 |
30 | Substitutions | Genomic: g.4677T>G CDS: c.583T>G AnimoAcid: p.Tyr195Asp |
Substitutions | Direct sequencing |
Sadeghi-Shabestari M et al., 2009 |
31 | Substitutions | Genomic: g.5460G>A CDS: c.1366G>A AnimoAcid: p.Ala456Thr |
Substitutions | Direct sequencing |
Ktiouet S et al., 2009 |
32 | Substitutions | Genomic: g.5432C>G CDS: c.1338C>G AnimoAcid: p.Cys446Trp |
Substitutions | Southern blotting |
Couedel C et al., 2010 |
33 | Substitutions | Genomic: g.5341G>T CDS: c.1247G>T AnimoAcid: p.Trp416Leu |
Substitutions | Southern blotting |
Couedel C et al., 2010 |
34 | Substitutions | Genomic: g.5451T>C CDS: c.1357T>C AnimoAcid: p.Trp453Arg |
Substitutions | Southern blotting |
Couedel C et al., 2010 |
35 | Substitutions | Genomic: g.5527G>A CDS: c.1433G>A AnimoAcid: p.Cys478Tyr |
Substitutions | Southern blotting |
Couedel C et al., 2010 |
36 | Substitutions | Genomic: g.5536A>C CDS: c.1442A>C AnimoAcid: p.His481Pro |
Substitutions | Southern blotting |
Couedel C et al., 2010 |
37 | Substitutions | Genomic: g.4312G>A CDS: c.218G>A AnimoAcid: p.Arg73His |
Substitutions | Direct sequencing |
Asai E et al., 2010 |
38 | Substitutions | Genomic: g.4926C>T CDS: c.832C>T AnimoAcid: p.Gln278X |
Substitutions | Direct sequencing |
Asai E et al., 2010 |
39 | Substitutions | Genomic: g.5423G>T CDS: c.1329G>T AnimoAcid: p.Met443Ile |
Substitutions | Direct sequencing |
Asai E et al., 2010 |
40 | Substitutions | Genomic: g.4226A>G CDS: c.115A>G AnimoAcid: p.Arg39Gly |
Substitutions | Direct sequencing |
Corneo B et al., 2001 |
41 | Substitutions | Genomic: g.4797G>A CDS: c.686G>A AnimoAcid: p.Arg229Gln |
Substitutions | Direct sequencing |
Corneo B et al., 2001 |