SI.No | Mutation change | Expt Name | PubMed | ||
1 | Substitutions | Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys |
Substitutions | Dideoxy fingerprinting |
Williams SR et al., 1987 |
2 | Substitutions | Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro |
Substitutions | Direct sequencing |
Markert ML et al., 1997 |
3 | Substitutions | Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys |
Substitutions | Direct sequencing |
Markert ML et al., 1997 |
4 | Substitutions | Genomic: g.5742G>C CDS: c.520G>C AnimoAcid: p.Ala174Pro |
Substitutions | Direct sequencing |
Markert ML et al., 1997 |
5 | Substitutions | Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val |
Substitutions | Direct sequencing |
Markert ML et al., 1997 |
6 | Deletion | Genomic: g.5494_5496delATC CDS: c.385_387delATC AnimoAcid: p.Ile129del |
Deletion | Direct sequencing |
Markert ML et al., 1997 |
7 | Substitutions | Genomic: g.5377G>A CDS: c.286-18G>A AnimoAcid: |
Substitutions | Direct sequencing |
Markert ML et al., 1997 |
8 | Substitutions | Genomic: g.5124G>A CDS: c.212G>A AnimoAcid: p.Gly71Glu |
Substitutions | Direct sequencing |
Parvaneh N et al., 2008 |
9 | Substitutions | Genomic: g.5697T>G CDS: c.475T>G AnimoAcid: p.Phe159Val |
Substitutions | Direct sequencing |
Parvaneh N et al., 2008 |
10 | Substitutions | Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly |
Substitutions | Direct sequencing, Southern blotting |
Aust MR et al., 1992 |
11 | Substitutions | Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro |
Substitutions | Direct sequencing, Southern blotting |
Aust MR et al., 1992 |
12 | Substitutions | Genomic: g.5797A>G CDS: c.575A>G AnimoAcid: p.Tyr192Cys |
Substitutions | Direct sequencing |
Pannicke U et al., 1996 |
13 | Deletion | Genomic: g.7083delA CDS: c.730delA AnimoAcid: p.Lys244ArgfsX17 |
Deletion | Direct sequencing |
Pannicke U et al., 1996 |
14 | Substitutions | Genomic: g.2988C>T CDS: c.70C>T AnimoAcid: p.Arg24X |
Substitutions | Direct sequencing |
Sasaki Y et al., 1998 |
15 | Substitutions | Genomic: g.5689G>C CDS: c.467G>C AnimoAcid: p.Gly156Ala |
Substitutions | Direct sequencing |
Moallem HJ et al., 2002 |
16 | Substitutions | Genomic: g.3099G>T CDS: c.181G>T AnimoAcid: p.Tyr5AlafsX27 |
Substitutions | Direct sequencing |
Andrews LG et al., 1992 |
17 | Substitutions | Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X |
Substitutions | Direct sequencing, PCR based assay |
Dalal I et al., 2001 |
18 | Substitutions | Genomic: g.5198G>A CDS: c.285+1G>A AnimoAcid: p.Val61GlyfsX29 |
Substitutions | Direct sequencing, PCR based assay |
Dalal I et al., 2001 |
19 | Substitutions | Genomic: g.5719A>G CDS: c.497A>G AnimoAcid: p.Tyr166Cys |
Substitutions | Dideoxy fingerprinting, Direct sequencing |
Tsuda M et al., 2002 |
20 | Substitutions | Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr |
Substitutions | Direct sequencing |
Ozkinay F et al., 2007 |
21 | Substitutions | Genomic: g.2988C>T CDS: c.70C>T AnimoAcid: p.Arg24X |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
22 | Substitutions | Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
23 | Substitutions | Genomic: g.5177G>A CDS: c.265G>A AnimoAcid: p.Glu89Lys |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
24 | Substitutions | Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
25 | Substitutions | Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
26 | Deletion | Genomic: g.5494_5496delATC CDS: c.385_387delATC AnimoAcid: p.Ile129del |
Deletion | Direct sequencing |
Grunebaum E et al., 2004 |
27 | Substitutions | Genomic: g.5689G>C CDS: c.467G>C AnimoAcid: p.Gly156Ala |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
28 | Substitutions | Genomic: g.5742G>C CDS: c.520G>C AnimoAcid: p.Ala174Pro |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
29 | Substitutions | Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
30 | Substitutions | Genomic: g.5797A>G CDS: c.575A>G AnimoAcid: p.Tyr192Cys |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
31 | Substitutions | Genomic: g.7053C>T CDS: c.700C>T AnimoAcid: p.Arg234X |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
32 | Substitutions | Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
33 | Deletion | Genomic: g.7083delA CDS: c.730delA AnimoAcid: p.Lys244ArgfsX17 |
Deletion | Direct sequencing |
Grunebaum E et al., 2004 |
34 | Substitutions | Genomic: g.7122C>G CDS: c.769C>G AnimoAcid: p.His257Asp |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
35 | Substitutions | Genomic: g.3099G>T CDS: c.181G>T AnimoAcid: p.Tyr5AlafsX27 |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
36 | Substitutions | Genomic: g.5198G>A CDS: c.285+1G>A AnimoAcid: p.Val61GlyfsX29 |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
37 | Substitutions | Genomic: g.5377G>A CDS: c.286-18G>A AnimoAcid: |
Substitutions | Direct sequencing |
Grunebaum E et al., 2004 |
38 | Substitutions | Genomic: g.5709T>C CDS: c.487T>C AnimoAcid: p.Ser163Pro |
Substitutions | Direct sequencing, PCR based assay |
Al-Saud B et al., 2009 |
39 | Substitutions | Genomic: g.5546C>T CDS: c.437C>T AnimoAcid: p.Pro146Leu |
Substitutions | Direct sequencing, PCR based assay |
Alangari A et al., 2009 |
40 | Substitutions | Genomic: g.5458G>A CDS: c.349G>A AnimoAcid: p.Ala117Thr |
Substitutions | Direct sequencing |
Aytekin C et al., 2010 |
41 | Substitutions | Genomic: g.5169A>G CDS: c.257A>G AnimoAcid: p.His86Arg |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
42 | Substitutions | Genomic: g.3090C>T CDS: c.172C>T AnimoAcid: p.Arg58X |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
43 | Substitutions | Genomic: g.5111C>T CDS: c.199C>T AnimoAcid: p.Arg67X |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
44 | Substitutions | Genomic: g.5492A>G CDS: c.383A>G AnimoAcid: p.Asp128Gly |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
45 | Substitutions | Genomic: g.5791G>T CDS: c.569G>T AnimoAcid: p.Gly190Val |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
46 | Substitutions | Genomic: g.7054G>C CDS: c.701G>C AnimoAcid: p.Arg234Pro |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
47 | Substitutions | Genomic: g.7123A>G CDS: c.770A>G AnimoAcid: p.His257Arg |
Substitutions | Direct sequencing |
Walker PL et al., 2011 |
48 | Substitutions | Genomic: g.5156C>T CDS: c.244C>T AnimoAcid: p.Gln82X |
Substitutions | NA |
Somech R et al., 2012 |
49 | Substitutions | Genomic: g.5111C>T CDS: c.199C>T AnimoAcid: p.Arg67X |
Substitutions | NA |
Madkaikar MR et al., 2011 |