| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17fs |
Deletion | Direct sequencing |
Stepp SE et al., 1999 |
| 2 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 3 | Substitutions | Genomic: g.2063C>T CDS: c.190C>T AnimoAcid: p.Gln64X |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 4 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 5 | Substitutions | Genomic: g.4341G>A CDS: c.1286G>A AnimoAcid: p.Gly429Glu |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 6 | Substitutions | Genomic: g.4089C>T CDS: c.1034C>T AnimoAcid: p.Pro345Leu |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 7 | Substitutions | Genomic: g.3891G>A CDS: c.836G>A AnimoAcid: p.Cys279Tyr |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 8 | Substitutions | Genomic: g.3603T>G CDS: c.548T>G AnimoAcid: p.Val183Gly |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 9 | Substitutions | Genomic: g.3810A>G CDS: c.755A>G AnimoAcid: p.Asn252Ser |
Substitutions | Direct sequencing |
Stepp SE et al., 1999 |
| 10 | Substitutions | Genomic: g.2318G>A CDS: c.445G>A AnimoAcid: p.Gly149Ser |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 11 | Duplications | Genomic: g.4683dupT CDS: c.1628dupT AnimoAcid: p.Glu545fs |
Duplications | Direct sequencing |
Molleran Lee S et al., 2004 |
| 12 | Substitutions | Genomic: g.2342T>G CDS: c.469T>G AnimoAcid: p.Phe157Val |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 13 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17fs |
Deletion | Direct sequencing |
Molleran Lee S et al., 2004 |
| 14 | Substitutions | Genomic: g.4497A>C CDS: c.1442A>C AnimoAcid: p.Gln481Pro |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 15 | Substitutions | Genomic: g.3721C>A CDS: c.666C>A AnimoAcid: p.His222Gln |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 16 | Substitutions | Genomic: g.2007G>A CDS: c.134G>A AnimoAcid: p.Gly45Glu |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 17 | Substitutions | Genomic: g.2090T>C CDS: c.217T>C AnimoAcid: p.Cys73Arg |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 18 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 19 | Substitutions | Genomic: g.3950C>T CDS: c.895C>T AnimoAcid: p.Arg299Cys |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 20 | Substitutions | Genomic: g.2006G>A CDS: c.133G>A AnimoAcid: p.Gly45Arg |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 21 | Substitutions | Genomic: g.2033C>T CDS: c.160C>T AnimoAcid: p.Arg54Cys |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 22 | Substitutions | Genomic: g.4136A>T CDS: c.1081A>T AnimoAcid: p.Arg361Trp |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 23 | Substitutions | Genomic: g.2322C>A CDS: c.449C>A AnimoAcid: p.Ser150X |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 24 | Substitutions | Genomic: g.2021G>A CDS: c.148G>A AnimoAcid: p.Val50Met |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 25 | Substitutions | Genomic: g.3993A>T CDS: c.938A>T AnimoAcid: p.Asp313Val |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 26 | Substitutions | Genomic: g.1876G>C CDS: c.3G>C AnimoAcid: p.Met1Ile |
Substitutions | Direct sequencing |
Molleran Lee S et al., 2004 |
| 27 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 28 | Substitutions | Genomic: g.1876G>A CDS: c.3G>A AnimoAcid: p.Met1Ile |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 29 | Deletion | Genomic: g.2058_2068del CDS: c.185_195del AnimoAcid: p.Asp62fs |
Deletion | Direct sequencing |
Zur Stadt U et al., 2006 |
| 30 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 31 | Substitutions | Genomic: g.1985G>A CDS: c.112G>A AnimoAcid: p.Val38Met |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 32 | Substitutions | Genomic: g.2318G>A CDS: c.445G>A AnimoAcid: p.Gly149Ser |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 33 | Substitutions | Genomic: g.3656C>A CDS: c.601C>A AnimoAcid: p.Pro201Thr |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 34 | Deletion | Genomic: g.3908_3910delAAG CDS: c.853_855delAAG AnimoAcid: p.Lys285del |
Deletion | Direct sequencing |
Zur Stadt U et al., 2006 |
| 35 | Substitutions | Genomic: g.3721C>A CDS: c.666C>A AnimoAcid: p.His222Gln |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 36 | Substitutions | Genomic: g.3750G>A CDS: c.695G>A AnimoAcid: p.Arg232His |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 37 | Substitutions | Genomic: g.3773C>G CDS: c.718C>G AnimoAcid: p.Arg240Gly |
Substitutions | Direct sequencing |
Zur Stadt U et al., 2006 |
| 38 | Deletion | Genomic: g.4631delT CDS: c.1576delT AnimoAcid: p.Leu526fs |
Deletion | Direct sequencing |
Zur Stadt U et al., 2006 |
| 39 | Substitutions | Genomic: g.3712C>A CDS: c.657C>A AnimoAcid: p.Tyr219X |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 40 | Substitutions | Genomic: g.2156T>C CDS: c.283T>C AnimoAcid: p.Trp95Arg |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 41 | Substitutions | Genomic: g.3713G>A CDS: c.658G>A AnimoAcid: p.Gly220Ser |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 42 | Substitutions | Genomic: g.3717C>T CDS: c.662C>T AnimoAcid: p.Thr221Ile |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 43 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 44 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 45 | Substitutions | Genomic: g.3749C>T CDS: c.694C>T AnimoAcid: p.Arg232Cys |
Substitutions | Direct sequencing |
Clementi R et al., 2001 |
| 46 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17fs |
Deletion | Direct sequencing |
Clementi R et al., 2001 |
| 47 | Substitutions | Genomic: g.4431C>T CDS: c.1376C>T AnimoAcid: p.Pro459Leu |
Substitutions | Direct sequencing |
Feldmann J et al., 2005 |
| 48 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Clementi R et al., 2005 |
| 49 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Clementi R et al., 2005 |
| 50 | Substitutions | Genomic: g.4359C>T CDS: c.1304C>T AnimoAcid: p.Thr435Met |
Substitutions | Direct sequencing |
Clementi R et al., 2005 |
| 51 | Substitutions | Genomic: g.4404C>T CDS: c.1349C>T AnimoAcid: p.Thr450Met |
Substitutions | Direct sequencing |
Clementi R et al., 2005 |
| 52 | Substitutions | Genomic: g.4317T>G CDS: c.1262T>G AnimoAcid: p.Phe421Cys |
Substitutions | Direct sequencing |
Clementi R et al., 2005 |
| 53 | Substitutions | Genomic: g.3810A>G CDS: c.755A>G AnimoAcid: p.Asn252Ser |
Substitutions | Direct sequencing |
Clementi R et al., 2004 |
| 54 | Substitutions | Genomic: g.3632T>C CDS: c.577T>C AnimoAcid: p.Phe193Leu |
Substitutions | Direct sequencing |
Katano H et al., 2004 |
| 55 | Substitutions | Genomic: g.4284G>C CDS: c.1229G>C AnimoAcid: p.Arg410Pro |
Substitutions | Direct sequencing |
Katano H et al., 2004 |
| 56 | Substitutions | Genomic: g.3957C>A CDS: c.902C>A AnimoAcid: p.Ser301X |
Substitutions | Direct sequencing |
Al-Jasmi F et al., 2008 |
| 57 | Substitutions | Genomic: g.4526G>A CDS: c.1471G>A AnimoAcid: p.Asp491Asn |
Substitutions | NA |
van Montfrans JM et al., 2009 |
| 58 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Clementi R et al., 2002 |
| 59 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Clementi R et al., 2002 |
| 60 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Goransdotter Ericson K et al., 2001 |
| 61 | Substitutions | Genomic: g.3712C>A CDS: c.657C>A AnimoAcid: p.Tyr219X |
Substitutions | Direct sequencing |
Goransdotter Ericson K et al., 2001 |
| 62 | Substitutions | Genomic: g.2021G>A CDS: c.148G>A AnimoAcid: p.Val50Met |
Substitutions | Direct sequencing |
Goransdotter Ericson K et al., 2001 |
| 63 | Substitutions | Genomic: g.3726T>A CDS: c.671T>A AnimoAcid: p.Ile224Asn |
Substitutions | Direct sequencing |
Goransdotter Ericson K et al., 2001 |
| 64 | Substitutions | Genomic: g.4359C>T CDS: c.1304C>T AnimoAcid: p.Thr435Met |
Substitutions | Direct sequencing, Restriction enzyme analysis |
McCormick J et al., 2003 |
| 65 | Deletion | Genomic: g.3908_3910delAAG CDS: c.853_855delAAG AnimoAcid: p.Lys285del |
Deletion | Direct sequencing |
Goransdotter Ericson K et al., 2001 |
| 66 | Substitutions | Genomic: g.2178G>T CDS: c.305G>T AnimoAcid: p.Cys102Phe |
Substitutions | PCR based assay |
Lu G et al., 2009 |
| 67 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364GlufsX93 |
Deletion | Direct sequencing |
Ueda I et al., 2003 |
| 68 | Substitutions | Genomic: g.1874A>G CDS: c.1A>G AnimoAcid: p.Met1Val |
Substitutions | Direct sequencing |
Ueda I et al., 2003 |
| 69 | Substitutions | Genomic: g.4004G>A CDS: c.949G>A AnimoAcid: p.Gly317Arg |
Substitutions | Direct sequencing |
Ueda I et al., 2003 |
| 70 | Deletion | Genomic: g.2080delC CDS: c.207delC AnimoAcid: p.Asp70ThrfsX37 |
Deletion | Direct sequencing |
Ueda I et al., 2003 |
| 71 | Substitutions | Genomic: g.4301C>T CDS: c.1246C>T AnimoAcid: p.Gln416X |
Substitutions | Direct sequencing |
Ueda I et al., 2003 |
| 72 | Substitutions | Genomic: g.3749C>T CDS: c.694C>T AnimoAcid: p.Arg232Cys |
Substitutions | Direct sequencing |
Del Giudice E et al., 2003 |
| 73 | Insertion | Genomic: g.4246_4247insTG CDS: c.1191_1192insTG AnimoAcid: p.His398CysfsX23 |
Insertion | Direct sequencing |
Del Giudice E et al., 2003 |
| 74 | Deletion | Genomic: g.4138delG CDS: c.1083delG AnimoAcid: p.Arg362fs |
Deletion | Direct sequencing |
Suga N et al., 2002 |
| 75 | Substitutions | Genomic: g.4546T>A CDS: c.1491T>A AnimoAcid: p.Cys497X |
Substitutions | Direct sequencing |
Suga N et al., 2002 |
| 76 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364fs |
Deletion | Direct sequencing |
Suga N et al., 2002 |
| 77 | Deletion | Genomic: g.2080delC CDS: c.207delC AnimoAcid: p.Asp70ThrfsX37 |
Deletion | Direct sequencing |
Suga N et al., 2002 |
| 78 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Suga N et al., 2002 |
| 79 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Busiello R et al., 2004 |
| 80 | Substitutions | Genomic: g.2006G>A CDS: c.133G>A AnimoAcid: p.Gly45Arg |
Substitutions | Direct sequencing |
Kogawa K et al., 2002 |
| 81 | Substitutions | Genomic: g.2033C>T CDS: c.160C>T AnimoAcid: p.Arg54Cys |
Substitutions | Direct sequencing |
Kogawa K et al., 2002 |
| 82 | Substitutions | Genomic: g.1989C>A CDS: c.116C>A AnimoAcid: p.Pro39His |
Substitutions | Direct sequencing |
Kogawa K et al., 2002 |
| 83 | Substitutions | Genomic: g.2318G>A CDS: c.445G>A AnimoAcid: p.Gly149Ser |
Substitutions | Direct sequencing |
Kogawa K et al., 2002 |
| 84 | Substitutions | Genomic: g.3750G>A CDS: c.695G>A AnimoAcid: p.Arg232His |
Substitutions | Direct sequencing |
Busiello R et al., 2004 |
| 85 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17fs |
Deletion | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 86 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 87 | Substitutions | Genomic: g.4341G>A CDS: c.1286G>A AnimoAcid: p.Gly429Glu |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 88 | Substitutions | Genomic: g.4089C>T CDS: c.1034C>T AnimoAcid: p.Pro345Leu |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 89 | Substitutions | Genomic: g.3891G>A CDS: c.836G>A AnimoAcid: p.Cys279Tyr |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 90 | Substitutions | Genomic: g.3603T>G CDS: c.548T>G AnimoAcid: p.Val183Gly |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 91 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 92 | Substitutions | Genomic: g.3810A>G CDS: c.755A>G AnimoAcid: p.Asn252Ser |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 93 | Substitutions | Genomic: g.3750G>A CDS: c.695G>A AnimoAcid: p.Arg232His |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 94 | Substitutions | Genomic: g.2063C>T CDS: c.190C>T AnimoAcid: p.Gln64X |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 95 | Substitutions | Genomic: g.1876G>A CDS: c.3G>A AnimoAcid: p.Met1Ile |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 96 | Substitutions | Genomic: g.3836G>A CDS: c.781G>A AnimoAcid: p.Glu261Lys |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 97 | Substitutions | Genomic: g.3713G>A CDS: c.658G>A AnimoAcid: p.Gly220Ser |
Substitutions | Direct sequencing, PCR based assay |
Feldmann J et al., 2002 |
| 98 | Deletion | Genomic: g.3905_3916delAAGAAGCACAAG CDS: c.850_861delAAGAAGCACAAG AnimoAcid: p.Lys284_Lys287del |
Deletion | Direct sequencing |
Muralitharan S et al., 2005 |
| 99 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364Glufs |
Deletion | Direct sequencing |
Ishii E et al., 2005 |
| 100 | Deletion | Genomic: g.2080delC CDS: c.207delC AnimoAcid: p.Asp70ThrfsX37 |
Deletion | Direct sequencing |
Ishii E et al., 2005 |
| 101 | Substitutions | Genomic: g.4283C>T CDS: c.1228C>T AnimoAcid: p.Arg410Trp |
Substitutions | Direct sequencing |
Ishii E et al., 2005 |
| 102 | Substitutions | Genomic: g.4404C>T CDS: c.1349C>T AnimoAcid: p.Thr450Met |
Substitutions | Direct sequencing |
Ishii E et al., 2005 |
| 103 | Substitutions | Genomic: g.4004G>A CDS: c.949G>A AnimoAcid: p.Gly317Arg |
Substitutions | Direct sequencing |
Ishii E et al., 2005 |
| 104 | Substitutions | Genomic: g.1874A>G CDS: c.1A>G AnimoAcid: p.Met1Val |
Substitutions | Direct sequencing |
Ishii E et al., 2005 |
| 105 | Substitutions | Genomic: g.1988C>A CDS: c.115C>A AnimoAcid: p.Pro89Thr |
Substitutions | Direct sequencing |
Al-Lamki Z et al., 2003 |
| 106 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Trambas C et al., 2005 |
| 107 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Trambas C et al., 2005 |
| 108 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Mancebo E et al., 2006 |
| 109 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 110 | Substitutions | Genomic: g.2241G>A CDS: c.368G>A AnimoAcid: p.Arg123His |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 111 | Substitutions | Genomic: g.2402C>T CDS: c.529C>T AnimoAcid: p.Arg177Cys |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 112 | Substitutions | Genomic: g.4526G>A CDS: c.1471G>A AnimoAcid: p.Asp491Asn |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 113 | Substitutions | Genomic: g.4317T>G CDS: c.1262T>G AnimoAcid: p.Phe421Cys |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 114 | Substitutions | Genomic: g.3750G>A CDS: c.695G>A AnimoAcid: p.Arg232His |
Substitutions | Direct sequencing |
Cannella S et al., 2007 |
| 115 | Substitutions | Genomic: g.3721C>A CDS: c.666C>A AnimoAcid: p.His222Gln |
Substitutions | Direct sequencing |
Bryceson YT et al., 2007 |
| 116 | Substitutions | Genomic: g.4004G>A CDS: c.949G>A AnimoAcid: p.Gly317Arg |
Substitutions | Direct sequencing |
Bryceson YT et al., 2007 |
| 117 | Substitutions | Genomic: g.4343G>T CDS: c.1288G>T AnimoAcid: p.Asp430Tyr |
Substitutions | Direct sequencing |
Bryceson YT et al., 2007 |
| 118 | Substitutions | Genomic: g.4484C>G CDS: c.1429C>G AnimoAcid: p.Pro477Ala |
Substitutions | Direct sequencing |
Orilieri E et al., 2008 |
| 119 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Solomou EE et al., 2007 |
| 120 | Substitutions | Genomic: g.4218G>T CDS: c.1163G>T AnimoAcid: p.Ser388Ile |
Substitutions | Direct sequencing |
Solomou EE et al., 2007 |
| 121 | Substitutions | Genomic: g.1884G>A CDS: c.11G>A AnimoAcid: p.Arg4His |
Substitutions | Direct sequencing |
Solomou EE et al., 2007 |
| 122 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364GlufsX93 |
Deletion | Direct sequencing |
Nagafuji K et al., 2007 |
| 123 | Substitutions | Genomic: g.3971G>A CDS: c.916G>A AnimoAcid: p.Gly306Ser |
Substitutions | Direct sequencing |
Nagafuji K et al., 2007 |
| 124 | Substitutions | Genomic: g.4177G>A CDS: c.1122G>A AnimoAcid: p.Trp374X |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 125 | Substitutions | Genomic: g.2145C>T CDS: c.272C>T AnimoAcid: p.Ala91Val |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 126 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17Argfs |
Deletion | Direct sequencing |
Trizzino A et al., 2008 |
| 127 | Deletion | Genomic: g.3908_3910delAAG CDS: c.853_855delAAG AnimoAcid: p.Lys285del |
Deletion | Direct sequencing |
Trizzino A et al., 2008 |
| 128 | Substitutions | Genomic: g.3712C>A CDS: c.657C>A AnimoAcid: p.Tyr219X |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 129 | Substitutions | Genomic: g.2007G>A CDS: c.134G>A AnimoAcid: p.Gly45Glu |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 130 | Substitutions | Genomic: g.2090T>C CDS: c.217T>C AnimoAcid: p.Cys73Arg |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 131 | Substitutions | Genomic: g.4369T>A CDS: c.1314T>A AnimoAcid: p.Tyr438X |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 132 | Substitutions | Genomic: g.4497A>C CDS: c.1442A>C AnimoAcid: p.Gln481Pro |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 133 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364Glufs |
Deletion | Direct sequencing |
Trizzino A et al., 2008 |
| 134 | Substitutions | Genomic: g.4283C>T CDS: c.1228C>T AnimoAcid: p.Arg410Trp |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 135 | Deletion | Genomic: g.3905_3916delAAGAAGCACAAG CDS: c.850_861delAAGAAGCACAAG AnimoAcid: p.Lys284_Lys287del |
Deletion | Direct sequencing |
Trizzino A et al., 2008 |
| 136 | Substitutions | Genomic: g.4301C>T CDS: c.1246C>T AnimoAcid: p.Gln416X |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 137 | Substitutions | Genomic: g.4546T>A CDS: c.1491T>A AnimoAcid: p.Cys497X |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 138 | Deletion | Genomic: g.3905_3910delAAGAAG CDS: c.850_855delAAGAAG AnimoAcid: p.Lys284_Lys285del |
Deletion | Direct sequencing |
Trizzino A et al., 2008 |
| 139 | Substitutions | Genomic: g.2318G>A CDS: c.445G>A AnimoAcid: p.Gly149Ser |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 140 | Substitutions | Genomic: g.3750G>A CDS: c.695G>A AnimoAcid: p.Arg232His |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 141 | Substitutions | Genomic: g.4404C>T CDS: c.1349C>T AnimoAcid: p.Thr450Met |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 142 | Substitutions | Genomic: g.2318G>C CDS: c.445G>C AnimoAcid: p.Gly149Arg |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 143 | Substitutions | Genomic: g.1876G>A CDS: c.3G>A AnimoAcid: |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 144 | Substitutions | Genomic: g.1874A>G CDS: c.1A>G AnimoAcid: |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 145 | Substitutions | Genomic: g.3721C>A CDS: c.666C>A AnimoAcid: p.His222Gln |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 146 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 147 | Substitutions | Genomic: g.1985G>A CDS: c.112G>A AnimoAcid: p.Val38Met |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 148 | Substitutions | Genomic: g.2021G>A CDS: c.148G>A AnimoAcid: p.Val50Met |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 149 | Substitutions | Genomic: g.2138C>A CDS: c.265C>A AnimoAcid: p.Pro89Thr |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 150 | Substitutions | Genomic: g.2156T>C CDS: c.283T>C AnimoAcid: p.Trp95Arg |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 151 | Substitutions | Genomic: g.3713G>C CDS: c.658G>C AnimoAcid: p.Gly220Arg |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 152 | Substitutions | Genomic: g.3713G>A CDS: c.658G>A AnimoAcid: p.Gly220Ser |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 153 | Substitutions | Genomic: g.3726T>A CDS: c.671T>A AnimoAcid: p.Ile224Asn |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 154 | Substitutions | Genomic: g.3773C>G CDS: c.718C>G AnimoAcid: p.Arg240Gly |
Substitutions | Direct sequencing |
Trizzino A et al., 2008 |
| 155 | Substitutions | Genomic: g.2376G>A CDS: c.503G>A AnimoAcid: p.Ser168Asn |
Substitutions | PCR based assay |
Lu G et al., 2009 |
| 156 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364GlnfsX93 |
Deletion | Direct sequencing |
Yoon HS et al., 2009 |
| 157 | Substitutions | Genomic: g.4404C>T CDS: c.1349C>T AnimoAcid: p.Thr450Met |
Substitutions | PCR based assay |
Lu G et al., 2009 |
| 158 | Substitutions | Genomic: g.3720A>G CDS: c.665A>G AnimoAcid: p.His222Arg |
Substitutions | Direct sequencing |
Aslan D 2010 |
| 159 | Substitutions | Genomic: g.4404C>T CDS: c.1349C>T AnimoAcid: p.Thr450Met |
Substitutions | Direct sequencing |
Al Balwi MA et al., 2010 |
| 160 | Substitutions | Genomic: g.4623C>A CDS: c.1568C>A AnimoAcid: p.Ala523Asp |
Substitutions | Direct sequencing |
Akbayram S et al., 2011 |
| 161 | Substitutions | Genomic: g.2018G>A CDS: c.145G>A AnimoAcid: p.Asp49Asn |
Substitutions | Direct sequencing |
Chia J et al., 2011 |
| 162 | Deletion | Genomic: g.3908_3910delAAG CDS: c.853_855delAAG AnimoAcid: p.Lys285del |
Deletion | Direct sequencing |
Chia J et al., 2011 |
| 163 | Substitutions | Genomic: g.1956G>A CDS: c.83G>A AnimoAcid: p.Arg28His |
Substitutions | Direct sequencing |
Zhizhuo H et al., 2012 |
| 164 | Substitutions | Genomic: g.2376G>A CDS: c.503G>A AnimoAcid: p.Ser168Asn |
Substitutions | Direct sequencing |
Zhizhuo H et al., 2012 |
| 165 | Substitutions | Genomic: g.3687C>T CDS: c.632C>T AnimoAcid: p.Ala211Val |
Substitutions | Direct sequencing |
Zhizhuo H et al., 2012 |
| 166 | Substitutions | Genomic: g.1966C>G CDS: c.93C>G AnimoAcid: p.Cys31Trp |
Substitutions | Direct sequencing |
Zhizhuo H et al., 2012 |
| 167 | Substitutions | Genomic: g.4121C>T CDS: c.1066C>T AnimoAcid: p.Arg356Trp |
Substitutions | Direct sequencing |
Zhizhuo H et al., 2012 |
| 168 | Substitutions | Genomic: g.3713G>C CDS: c.658G>C AnimoAcid: p.Gly220Arg |
Substitutions | Direct sequencing |
Meeths M et al., 2011 |
| 169 | Substitutions | Genomic: g.4121C>T CDS: c.1066C>T AnimoAcid: p.Arg356Trp |
Substitutions | NA |
Huang Z et al., 2012 |
| 170 | Deletion | Genomic: g.1923delT CDS: c.50delT AnimoAcid: p.Leu17ArgfsX34 |
Deletion | Direct sequencing |
Sanchez IP et al., 2012 |
| 171 | Substitutions | Genomic: g.2033C>T CDS: c.160C>T AnimoAcid: p.Arg54Cys |
Substitutions | Direct sequencing |
Sanchez IP et al., 2012 |
| 172 | Substitutions | Genomic: g.3728C>T CDS: c.673C>T AnimoAcid: p.Arg225Trp |
Substitutions | Exome sequencing |
Dias C et al., 2013 |
| 173 | Deletion | Genomic: g.4145_4146delCT CDS: c.1090_1091delCT AnimoAcid: p.Leu364GlufsX93 |
Deletion | Direct sequencing |
Seo JY et al., 2013 |
| 174 | Deletion | Genomic: g.1938delC CDS: c.65delC AnimoAcid: p.Pro22ArgfsX29 |
Deletion | Direct sequencing |
Seo JY et al., 2013 |