| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Duplications | Genomic: g.12372_12375dupTTAC CDS: c.104_107dupTTAC AnimoAcid: p.Ile37fs |
Duplications | Direct sequencing |
Altare F et al., 1998 |
| 2 | Deletion | Genomic: g.12399delC CDS: c.131delC AnimoAcid: p.Pro44fs |
Deletion | Direct sequencing, PCR based assay |
Jouanguy E et al., 1996 |
| 3 | Substitutions | Genomic: g.13182T>C CDS: c.260T>C AnimoAcid: p.Ile87Thr |
Substitutions | Direct sequencing |
Jouanguy E et al., 1997 |
| 4 | Deletion | Genomic: g.13217_13228del CDS: c.295_306del AnimoAcid: p.Trp99_Val102del |
Deletion | Direct sequencing |
Jouanguy E et al., 2000 |
| 5 | Deletion | Genomic: g.18463_18466delTCTA CDS: c.774_777delTCTA AnimoAcid: p.Phe258LeufsX18 |
Deletion | Direct sequencing |
Okada S et al., 2007 |
| 6 | Substitutions | Genomic: g.13152G>A CDS: c.230G>A AnimoAcid: p.Cys77Tyr |
Substitutions | Direct sequencing |
Jouanguy E et al., 2000 |
| 7 | Substitutions | Genomic: g.12456T>G CDS: c.188T>G AnimoAcid: p.Val63Gly |
Substitutions | Direct sequencing, PCR based assay, SSCP |
Allende LM et al., 2001 |
| 8 | Substitutions | Genomic: g.12450T>A CDS: c.182T>A AnimoAcid: p.Val61Glu |
Substitutions | Direct sequencing |
Jouanguy E et al., 2000 |
| 9 | Substitutions | Genomic: g.13176G>A CDS: c.254G>A AnimoAcid: p.Cys85Tyr |
Substitutions | Fluorescent sequencing |
Noordzij JG et al., 2007 |
| 10 | Substitutions | Genomic: g.18521G>T CDS: c.832G>T AnimoAcid: p.Glu278X |
Substitutions | Direct sequencing |
Villella A et al., 2001 |
| 11 | Substitutions | Genomic: g.13296G>T CDS: c.373+1G>T AnimoAcid: |
Substitutions | Fluorescent sequencing |
Noordzij JG et al., 2007 |
| 12 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | PCR based assay |
Arend SM et al., 2001 |
| 13 | Substitutions | Genomic: g.13269C>A CDS: c.347C>A AnimoAcid: p.Ser116X |
Substitutions | Direct sequencing |
Newport MJ et al., 1996 |
| 14 | Substitutions | Genomic: g.13182T>C CDS: c.260T>C AnimoAcid: p.Ile87Thr |
Substitutions | Direct sequencing |
Remiszewski P et al., 2006 |
| 15 | Deletion | Genomic: g.15700_157003delACTC CDS: c.561_564delACTC AnimoAcid: p.Ile187fs |
Deletion | SSCP |
Rosenzweig S et al., 2002 |
| 16 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | SSCP |
Sasaki Y et al., 2002 |
| 17 | Deletion | Genomic: g.15076delT CDS: c.523delT AnimoAcid: p.Tyr175fs |
Deletion | Direct sequencing |
Dorman SE et al., 2004 |
| 18 | Deletion | Genomic: g.12436delC CDS: c.168delC AnimoAcid: p.Val56fs |
Deletion | Direct sequencing |
Dorman SE et al., 2004 |
| 19 | Substitutions | Genomic: g.18521G>T CDS: c.832G>T AnimoAcid: p.Glu278X |
Substitutions | Direct sequencing |
Dorman SE et al., 2004 |
| 20 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | Fluorescent sequencing |
Jouanguy E et al., 1999 |
| 21 | Deletion | Genomic: g.15760_15763delACTC CDS: c.561_564delACTC AnimoAcid: p.Leu188ArgfsX14 |
Deletion | Direct sequencing |
Dorman SE et al., 2000 |
| 22 | Insertion | Genomic: g.18506insA CDS: c.817insA AnimoAcid: p.Lys272fs |
Insertion | Direct sequencing |
Dorman SE et al., 2000 |
| 23 | Deletion | Genomic: g.18507delT CDS: c.818delT AnimoAcid: p.Ile273fs |
Deletion | Direct sequencing |
Dorman SE et al., 2004 |
| 24 | Insertion | Genomic: g.12373_12374insT CDS: c.105_106insT AnimoAcid: p.Thr36TyrfsX3 |
Insertion | Direct sequencing |
Dorman SE et al., 2004 |
| 25 | Deletion | Genomic: g.12399delC CDS: c.131delC AnimoAcid: p.Pro44LeufsX18 |
Deletion | Direct sequencing |
Dorman SE et al., 2004 |
| 26 | Deletion | Genomic: g.15851_15853delGAA CDS: c.652_654delGAA AnimoAcid: p.Glu218del |
Deletion | NA |
Dorman SE et al., 2004 |
| 27 | Deletion | Genomic: g.15760_15763delACTC CDS: c.561_564delACTC AnimoAcid: p.Leu188ArgfsX13 |
Deletion | Direct sequencing |
Roesler J et al., 1999 |
| 28 | Substitutions | Genomic: g.13296G>T CDS: c.373+1G>T AnimoAcid: p.Val68LysfsX5 |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 29 | Deletion | Genomic: g.18483delT CDS: c.794delT AnimoAcid: p.Phe265SerfsX11 |
Deletion | Direct sequencing |
Storgaard M et al., 2006 |
| 30 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | Direct sequencing |
Lee WI et al., 2009 |
| 31 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | Direct sequencing |
Han JY et al., 2004 |
| 32 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | Direct sequencing |
Waibel KH et al., 2002 |
| 33 | Deletion | Genomic: g.15076delT CDS: c.523delT AnimoAcid: p.Tyr175MetfsX2 |
Deletion | Direct sequencing |
Koscielniak E et al., 2003 |
| 34 | Substitutions | Genomic: g.105T>A CDS: c.2T>A AnimoAcid: p.Met1Lys |
Substitutions | Direct sequencing |
Kong XF et al.,2009 |
| 35 | Deletion | Genomic: g.18507_18510delTTAA CDS: c.818_821delTTAA AnimoAcid: p.Asn274HisfsX2 |
Deletion | Direct sequencing |
Glosli H et al., 2008 |
| 36 | Deletion | Genomic: g.15006delT CDS: c.453delT AnimoAcid: p.Phe151LeufsX1 |
Deletion | Direct sequencing |
Tsolia MN et al., 2006 |
| 37 | Deletion | Genomic: g.12433delG CDS: c.165delG AnimoAcid: p.Gln55SerfsX6 |
Deletion | Direct sequencing |
Cunningham JA et al., 2000 |
| 38 | Substitutions | Genomic: g.13121A>G CDS: c.201-2A>G AnimoAcid: p.Val68_Arg101del |
Substitutions | Direct sequencing |
Holland SM et al., 1998 |
| 39 | Deletion | Genomic: g.125delC CDS: c.22delC AnimoAcid: p.Val10SerfsX5 |
Deletion | Direct sequencing |
Holland SM et al., 1998 |
| 40 | Substitutions | Genomic: g.13261T>A CDS: c.339T>A AnimoAcid: p.Tyr113X |
Substitutions | Direct sequencing |
Prando C et al., 2010 |
| 41 | Substitutions | Genomic: g.13182T>C CDS: c.260T>C AnimoAcid: p.Ile87Thr |
Substitutions | Direct sequencing, PCR based assay |
Sologuren I et al., 2011 |
| 42 | Substitutions | Genomic: g.12456T>G CDS: c.188T>G AnimoAcid: p.Val63Gly |
Substitutions | Direct sequencing, PCR based assay |
Sologuren I et al., 2011 |
| 43 | Deletion | Genomic: g.18500_18503delAAGA CDS: c.811_814delAAGA AnimoAcid: p.Lys272LeufsX4 |
Deletion | Direct sequencing |
Hoshina T et al., 2011 |
| 44 | Substitutions | Genomic: g.18521G>T CDS: c.832G>T AnimoAcid: p.Glu278X |
Substitutions | Direct sequencing |
Hoshina T et al., 2011 |
| 45 | Substitutions | Genomic: g.21384C>T CDS: c.1454C>T AnimoAcid: p.Ser485Phe |
Substitutions | Sanger Sequencing |
Galal N et al., 2012 |
| 46 | Insertion | Genomic: g.12373_12374insT CDS: c.105_106insT AnimoAcid: p.Thr36TyrfsX3 |
Insertion | NA |
Edeer Karaca N et al., 2012 |