| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Duplications | Genomic: g.750_753dupCAGG CDS: c.205_208dupCAGG AnimoAcid: p.Asp70AlafsX148 |
Duplications | Direct sequencing |
Heino M et al., 1999 |
| 2 | Substitutions | Genomic: g.7113G>A CDS: c.1096-1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Heino M et al., 1999 |
| 3 | Substitutions | Genomic: g.1691C>T CDS: c.517C>T AnimoAcid: p.Gln173X |
Substitutions | Direct sequencing |
Heino M et al., 1999 |
| 4 | Deletion | Genomic: g.7283delC CDS: c.1265delC AnimoAcid: p.Pro422LeufsX58 |
Deletion | Direct sequencing |
Heino M et al., 1999 |
| 5 | Substitutions | Genomic: g.210T>C CDS: c.83T>C AnimoAcid: p.Leu28Pro |
Substitutions | Direct sequencing |
Heino M et al., 1999 |
| 6 | Deletion-Insertion | Genomic: g.7927delGinsAC CDS: c.1296delGinsAC AnimoAcid: p.Arg433ProfsX71 |
Deletion-Insertion | Direct sequencing |
Heino M et al., 1999 |
| 7 | Deletion | Genomic: g.736_771del36 CDS: c.191_226del36 AnimoAcid: |
Deletion | Direct sequencing |
Heino M et al., 1999 |
| 8 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Heino M et al., 1999 |
| 9 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing, PCR based assay |
Heino M et al., 1999 |
| 10 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Rosatelli MC et al., 1998 |
| 11 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Rosatelli MC et al., 1998 |
| 12 | Substitutions | Genomic: g.814A>G CDS: c.269A>G AnimoAcid: p.Tyr90Cys |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 13 | Deletion | Genomic: g.7283delC CDS: c.1265delC AnimoAcid: p.Pro422Leufs |
Deletion | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 14 | Deletion | Genomic: g.7267delC CDS: c.1249delC AnimoAcid: p.Leu417Tyrfs |
Deletion | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 15 | Substitutions | Genomic: g.210T>C CDS: c.83T>C AnimoAcid: p.Leu28Pro |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 16 | Substitutions | Genomic: g.171G>T CDS: c.44G>T AnimoAcid: p.Arg15Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 17 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 18 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing, Restriction enzyme analysis, SSCP |
Pearce SH et al., 1998 |
| 19 | Substitutions | Genomic: g.11848A>T CDS: c.1638A>T AnimoAcid: p.X546CysextX*60 |
Substitutions | Direct sequencing |
Scott HS et al., 1998 |
| 20 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Scott HS et al., 1998 |
| 21 | Duplications | Genomic: g.5302_5305dupCCTG CDS: c.966_969dupCCTG AnimoAcid: p.Ser324ProfsX49 |
Duplications | Direct sequencing |
Scott HS et al., 1998 |
| 22 | Substitutions | Genomic: g.2534C>T CDS: c.607C>T AnimoAcid: p.Arg203X |
Substitutions | Direct sequencing |
Scott HS et al., 1998 |
| 23 | Deletion | Genomic: g.7211delC CDS: c.1193delC AnimoAcid: p.Pro398Argfs |
Deletion | Direct sequencing |
Finnish-German APECED Consortium, 1997 |
| 24 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Finnish-German APECED Consortium, 1997 |
| 25 | Duplications | Genomic: g.5302_5305dupCCTG CDS: c.966_969dupCCTG AnimoAcid: p.Ser324ProfsX49 |
Duplications | Direct sequencing |
Finnish-German APECED Consortium, 1997 |
| 26 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Finnish-German APECED Consortium, 1997 |
| 27 | Deletion | Genomic: g.7211delC CDS: c.1193delC AnimoAcid: p.Pro398Argfs |
Deletion | Direct sequencing |
Bjorses P et al., 2000 |
| 28 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
F Magitta N et al., 2008 |
| 29 | Substitutions | Genomic: g.819C>T CDS: c.274C>T AnimoAcid: p.Arg92Trp |
Substitutions | Direct sequencing |
F Magitta N et al., 2008 |
| 30 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
F Magitta N et al., 2008 |
| 31 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Korniszewski L et al., 2003 |
| 32 | Deletion | Genomic: g.3914delC CDS: c.789delC AnimoAcid: p.Ala264LeufsX114 |
Deletion | Direct sequencing |
Harris M et al., 2003 |
| 33 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Harris M et al., 2003 |
| 34 | Substitutions | Genomic: g.170C>T CDS: c.43C>T AnimoAcid: p.Arg15Cys |
Substitutions | Direct sequencing |
Sato K et al., 2002 |
| 35 | Substitutions | Genomic: g.189C>T CDS: c.62C>T AnimoAcid: p.Ala21Val |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 36 | Substitutions | Genomic: g.799A>G CDS: c.254A>G AnimoAcid: p.Tyr85Cys |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 37 | Substitutions | Genomic: g.2534C>T CDS: c.607C>T AnimoAcid: p.Arg203X |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 38 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 39 | Substitutions | Genomic: g.5268G>A CDS: c.932G>A AnimoAcid: p.Cys311Tyr |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 40 | Deletion | Genomic: g.5267delT CDS: c.931delT AnimoAcid: p.Cys311ValfsX67 |
Deletion | Direct sequencing |
Halonen M et al., 2002 |
| 41 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Halonen M et al., 2002 |
| 42 | Insertion | Genomic: g.7181_7182insA CDS: c.1163_1164insA AnimoAcid: p.Met388IlefsX36 |
Insertion | Direct sequencing |
Halonen M et al., 2002 |
| 43 | Deletion | Genomic: g.7207delC CDS: c.1189delC AnimoAcid: p.Leu397CysfsX83 |
Deletion | Direct sequencing |
Halonen M et al., 2002 |
| 44 | Deletion | Genomic: g.7211delC CDS: c.1193delC AnimoAcid: p.Pro398Argfs |
Deletion | Direct sequencing |
Halonen M et al., 2002 |
| 45 | Insertion | Genomic: g.7260_7261insA CDS: c.1242_1243insA AnimoAcid: p.His415AlafsX9 |
Insertion | Direct sequencing |
Halonen M et al., 2002 |
| 46 | Insertion | Genomic: g.7262_7263insC CDS: c.1244_1245insC AnimoAcid: p.Leu417ProfsX7 |
Insertion | Direct sequencing |
Halonen M et al., 2002 |
| 47 | Substitutions | Genomic: g.11848A>T CDS: c.1638A>T AnimoAcid: p.X546CysextX*60 |
Substitutions | Direct sequencing |
Halonen M et al., 2002 |
| 48 | Substitutions | Genomic: g.4190G>A CDS: c.879+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Wolff AS et al., 2007 |
| 49 | Deletion | Genomic: g.1193delC CDS: c.402delC AnimoAcid: p.Ser135GlnfsX12 |
Deletion | Direct sequencing |
Wolff AS et al., 2007 |
| 50 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: |
Deletion | Direct sequencing |
Wolff AS et al., 2007 |
| 51 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Wolff AS et al., 2007 |
| 52 | Insertion | Genomic: g.7260_7261insA CDS: c.1242_1243insA AnimoAcid: |
Insertion | Direct sequencing |
Wolff AS et al., 2007 |
| 53 | Duplications | Genomic: g.7267dupC CDS: c.1249dupC AnimoAcid: p.Leu417ProfsX7 |
Duplications | Direct sequencing |
Wolff AS et al., 2007 |
| 54 | Substitutions | Genomic: g.835T>C CDS: c.290T>C AnimoAcid: p.Leu97Pro |
Substitutions | Direct sequencing |
Wolff AS et al., 2007 |
| 55 | Substitutions | Genomic: g.149C>T CDS: c.22C>T AnimoAcid: p.Arg8Cys |
Substitutions | Direct sequencing |
Wolff AS et al., 2007 |
| 56 | Insertion | Genomic: g.7181_7182insA CDS: c.1163_1164insA AnimoAcid: |
Insertion | Direct sequencing |
Wolff AS et al., 2007 |
| 57 | Insertion | Genomic: g.7262_7263insC CDS: c.1244_1245insC AnimoAcid: |
Insertion | Direct sequencing |
Wolff AS et al., 2007 |
| 58 | Substitutions | Genomic: g.7967T>G CDS: c.1336T>G AnimoAcid: p.Cys446Gly |
Substitutions | Direct sequencing |
Wolff AS et al., 2007 |
| 59 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Podkrajsek KT et al., 2005 |
| 60 | Substitutions | Genomic: g.174C>T CDS: c.47C>T AnimoAcid: p.Thr16Met |
Substitutions | Direct sequencing |
Podkrajsek KT et al., 2005 |
| 61 | Deletion | Genomic: g.3771_3773delCTC CDS: c.653-7_653-5delCTC AnimoAcid: p.Gly219ProfsX66 |
Deletion | Direct sequencing, PCR based assay |
Podkrajsek KT et al., 2005 |
| 62 | Deletion | Genomic: g.2467delG CDS: c.540delG AnimoAcid: p.Ile181PhefsX197 |
Deletion | Direct sequencing, PCR based assay |
Podkrajsek KT et al., 2005 |
| 63 | Duplications | Genomic: g.6491_6495dupCCCGG CDS: c.1064_1068dupCCCGG AnimoAcid: p.Gln358GlyfsX22 |
Duplications | Direct sequencing, PCR based assay |
Podkrajsek KT et al., 2005 |
| 64 | Substitutions | Genomic: g.775T>C CDS: c.230T>C AnimoAcid: p.Phe77Ser |
Substitutions | Direct sequencing |
Meloni A et al., 2005 |
| 65 | Substitutions | Genomic: g.777T>A CDS: c.232T>A AnimoAcid: p.Trp78Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Meloni A et al., 2005 |
| 66 | Deletion | Genomic: g.191_196del6 CDS: c.64_69del6 AnimoAcid: p.Val22_Asp23del |
Deletion | Direct sequencing |
Meloni A et al., 2005 |
| 67 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Wang CY et al., 1998 |
| 68 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Wang CY et al., 1998 |
| 69 | Insertion | Genomic: g.7925_7926insAC CDS: c.1294_1295insAC AnimoAcid: p.Ala432AspfsX49 |
Insertion | Direct sequencing |
Wang CY et al., 1998 |
| 70 | Substitutions | Genomic: g.1256T>C CDS: c.463+2T>C AnimoAcid: |
Substitutions | Direct sequencing |
Wang CY et al., 1998 |
| 71 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: |
Deletion | Direct sequencing |
Ward L et al., 1999 |
| 72 | Substitutions | Genomic: g.823T>G CDS: c.278T>G AnimoAcid: p.Leu93Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Ward L et al., 1999 |
| 73 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 74 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 75 | Substitutions | Genomic: g.799A>G CDS: c.254A>G AnimoAcid: p.Tyr85Cys |
Substitutions | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 76 | Substitutions | Genomic: g.783G>T CDS: c.238G>T AnimoAcid: p.Val80Leu |
Substitutions | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 77 | Insertion | Genomic: g.1682_1683ins13 CDS: c.508_509ins13 AnimoAcid: |
Insertion | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 78 | Substitutions | Genomic: g.1691C>T CDS: c.517C>T AnimoAcid: p.Gln173X |
Substitutions | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 79 | Substitutions | Genomic: g.2534C>T CDS: c.607C>T AnimoAcid: p.Arg203X |
Substitutions | Direct sequencing, SSCP |
Bjorses P et al., 2000 |
| 80 | Insertion | Genomic: g.7181_7182insA CDS: c.1163_1164insA AnimoAcid: p.Met388IlefsX36 |
Insertion | Direct sequencing |
Finnish-German APECED Consortium, 1997 |
| 81 | Insertion | Genomic: g.7181_7182insA CDS: c.1163_1164insA AnimoAcid: p.Met388IlefsX36 |
Insertion | Direct sequencing |
Bjorses P et al., 2000 |
| 82 | Deletion | Genomic: g.7207delC CDS: c.1189delC AnimoAcid: p.Leu397CysfsX83 |
Deletion | Direct sequencing |
Bjorses P et al., 2000 |
| 83 | Duplications | Genomic: g.7267dupC CDS: c.1249dupC AnimoAcid: p.Leu417ProfsX7 |
Duplications | Direct sequencing |
Bjorses P et al., 2000 |
| 84 | Substitutions | Genomic: g.11848A>T CDS: c.1638A>T AnimoAcid: p.X546CysextX*60 |
Substitutions | Direct sequencing |
Bjorses P et al., 2000 |
| 85 | Deletion | Genomic: g.5267delT CDS: c.931delT AnimoAcid: p.Cys311ValfsX67 |
Deletion | Direct sequencing |
Bjorses P et al., 2000 |
| 86 | Substitutions | Genomic: g.5268G>A CDS: c.932G>A AnimoAcid: p.Cys311Tyr |
Substitutions | Direct sequencing |
Bjorses P et al., 2000 |
| 87 | Insertion | Genomic: g.5302_5303ins4 CDS: c.966_967ins4 AnimoAcid: |
Insertion | Direct sequencing |
Bjorses P et al., 2000 |
| 88 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: |
Deletion | Direct sequencing |
Myhre AG et al., 2001 |
| 89 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Myhre AG et al., 2001 |
| 90 | Insertion | Genomic: g.7260_7261insA CDS: c.1242_1243insA AnimoAcid: |
Insertion | Direct sequencing |
Myhre AG et al., 2001 |
| 91 | Insertion | Genomic: g.7181_7182insA CDS: c.1163_1164insA AnimoAcid: |
Insertion | Direct sequencing |
Myhre AG et al., 2001 |
| 92 | Duplications | Genomic: g.7267dupC CDS: c.1249dupC AnimoAcid: |
Duplications | Direct sequencing |
Myhre AG et al., 2001 |
| 93 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Saugier-Veber P et al., 2001 |
| 94 | Substitutions | Genomic: g.5313C>T CDS: c.977C>T AnimoAcid: p.Pro326Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Saugier-Veber P et al., 2001 |
| 95 | Insertion | Genomic: g.7260_7261insA CDS: c.1242_1243insA AnimoAcid: p.His415AlafsX9 |
Insertion | Direct sequencing |
Myhre AG et al., 1998 |
| 96 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Myhre AG et al., 1998 |
| 97 | Substitutions | Genomic: g.5237G>A CDS: c.901G>A AnimoAcid: p.Val301Met |
Substitutions | Direct sequencing |
Soderbergh A et al., 2000 |
| 98 | Duplications | Genomic: g.7121dupC CDS: c.1103dupC AnimoAcid: p.Leu370AlafsX53 |
Duplications | Direct sequencing |
Ishii T et al., 2000 |
| 99 | Deletion | Genomic: g.10513delG CDS: c.1513delG AnimoAcid: p.Ala505ProfsX16 |
Deletion | Direct sequencing |
Ishii T et al., 2000 |
| 100 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Northern blotting |
Boe AS et al., 2002 |
| 101 | Deletion | Genomic: g.3914delC CDS: c.789delC AnimoAcid: p.Ala264LeufsX114 |
Deletion | Direct sequencing |
Vogel A et al., 2003 |
| 102 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Fuchtenbusch M et al., 2003 |
| 103 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Direct sequencing |
Tawfik S et al., 2005 |
| 104 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Vogel A et al., 2003 |
| 105 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Stolarski B et al., 2006 |
| 106 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Stolarski B et al., 2006 |
| 107 | Substitutions | Genomic: g.260G>C CDS: c.132+1G>C AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Stolarski B et al., 2006 |
| 108 | Deletion | Genomic: g.5267delT CDS: c.931delT AnimoAcid: p.Cys311ValfsX67 |
Deletion | Direct sequencing |
Stolarski B et al., 2006 |
| 109 | Substitutions | Genomic: g.128A>T CDS: c.1A>T AnimoAcid: |
Substitutions | Direct sequencing |
Stolarski B et al., 2006 |
| 110 | Substitutions | Genomic: g.5244G>C CDS: c.908G>C AnimoAcid: p.Arg303Pro |
Substitutions | Direct sequencing, PCR based assay |
Stolarski B et al., 2006 |
| 111 | Deletion-Insertion | Genomic: g.7945_7957del13insGT CDS: c.1314_1326del13insGT AnimoAcid: p.Asp439CysfsX |
Deletion-Insertion | Direct sequencing |
Lintas C et al., 2008 |
| 112 | Substitutions | Genomic: g.260G>C CDS: c.132+1G>C AnimoAcid: |
Substitutions | Direct sequencing |
Capalbo D et al., 2008 |
| 113 | Substitutions | Genomic: g.2534C>T CDS: c.607C>T AnimoAcid: p.Arg203X |
Substitutions | NA |
De Luca F et al., 2008 |
| 114 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | NA |
De Luca F et al., 2008 |
| 115 | Substitutions | Genomic: g.777T>A CDS: c.232T>A AnimoAcid: p.Trp78Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Meloni A et al., 2002 |
| 116 | Substitutions | Genomic: g.6499C>T CDS: c.1072C>T AnimoAcid: p.Gln358X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Meloni A et al., 2002 |
| 117 | Substitutions | Genomic: g.3880C>T CDS: c.755C>T AnimoAcid: p.Pro252Leu |
Substitutions | Direct sequencing |
Meloni A et al., 2002 |
| 118 | Substitutions | Genomic: g.11826C>T CDS: c.1616C>T AnimoAcid: p.Pro539Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Meloni A et al., 2002 |
| 119 | Substitutions | Genomic: g.4144C>G CDS: c.834C>G AnimoAcid: p.Ser278Arg |
Substitutions | Direct sequencing, PCR based assay |
Lankisch TO et al., 2009 |
| 120 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Fluorescent sequencing |
Cervato S et al., 2009 |
| 121 | Substitutions | Genomic: g.2534C>T CDS: c.607C>T AnimoAcid: p.Arg203X |
Substitutions | Fluorescent sequencing |
Cervato S et al., 2009 |
| 122 | Substitutions | Genomic: g.777T>C CDS: c.232T>C AnimoAcid: p.Trp78Arg |
Substitutions | Fluorescent sequencing |
Cervato S et al., 2009 |
| 123 | Substitutions | Genomic: g.6499C>T CDS: c.1072C>T AnimoAcid: p.Gln358X |
Substitutions | Fluorescent sequencing |
Cervato S et al., 2009 |
| 124 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Fluorescent sequencing |
Cervato S et al., 2009 |
| 125 | Deletion | Genomic: g.5241_5242delGT CDS: c.905_906delGT AnimoAcid: p.Cys302SerfsX10 |
Deletion | Fluorescent sequencing |
Cervato S et al., 2009 |
| 126 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Fluorescent sequencing |
Cervato S et al., 2009 |
| 127 | Substitutions | Genomic: g.189C>T CDS: c.62C>T AnimoAcid: p.Ala21Val |
Substitutions | Fluorescent sequencing |
Podkrajsek KT et al., 2008 |
| 128 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323fs |
Deletion | Fluorescent sequencing |
Podkrajsek KT et al., 2008 |
| 129 | Duplications | Genomic: g.148_170dup23 CDS: c.21_43dup23 AnimoAcid: p.Arg15fs |
Duplications | Fluorescent sequencing |
Podkrajsek KT et al., 2008 |
| 130 | Substitutions | Genomic: g.5228G>A CDS: c.892G>A AnimoAcid: p.Glu298Lys |
Substitutions | Fluorescent sequencing |
Podkrajsek KT et al., 2008 |
| 131 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Fluorescent sequencing |
Podkrajsek KT et al., 2008 |
| 132 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Dideoxy fingerprinting, Restriction enzyme analysis |
Nagamine K et al., 1997 |
| 133 | Substitutions | Genomic: g.792A>T CDS: c.247A>T AnimoAcid: p.Lys83Glu |
Substitutions | Dideoxy fingerprinting, Restriction enzyme analysis |
Nagamine K et al., 1997 |
| 134 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, Restriction enzyme analysis, SSCP |
Vogel A et al., 2001 |
| 135 | Substitutions | Genomic: g.5249G>A CDS: c.913G>A AnimoAcid: p.Gly305Ser |
Substitutions | Direct sequencing, SSCP |
Vogel A et al., 2001 |
| 136 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Dideoxy fingerprinting, Restriction enzyme analysis |
Cihakova D et al., 2001 |
| 137 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Dideoxy fingerprinting |
Cihakova D et al., 2001 |
| 138 | Substitutions | Genomic: g.174C>T CDS: c.47C>T AnimoAcid: p.Thr16Met |
Substitutions | Dideoxy fingerprinting, Restriction enzyme analysis |
Cihakova D et al., 2001 |
| 139 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Dideoxy fingerprinting, Restriction enzyme analysis |
Cihakova D et al., 2001 |
| 140 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | PCR based assay |
Meyer G et al., 2001 |
| 141 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | PCR based assay |
Meyer G et al., 2001 |
| 142 | Substitutions | Genomic: g.777T>A CDS: c.232T>A AnimoAcid: p.Trp78Arg |
Substitutions | Dideoxy fingerprinting |
Cihakova D et al., 2001 |
| 143 | Substitutions | Genomic: g.3807G>T CDS: c.682G>T AnimoAcid: p.Gly228Trp |
Substitutions | Direct sequencing |
Cetani F et al., 2001 |
| 144 | Deletion | Genomic: g.264delG CDS: c.132+5delG AnimoAcid: |
Deletion | Direct sequencing, PCR based assay |
Stolarski B et al., 2006 |
| 145 | Deletion | Genomic: g.264delG CDS: c.132+5delG AnimoAcid: |
Deletion | Direct sequencing |
Capalbo D et al., 2008 |
| 146 | Substitutions | Genomic: g.1254G>A CDS: c.463G>A AnimoAcid: p.Gly155Ser |
Substitutions | Direct sequencing |
von Schnurbein J et al., 2008 |
| 147 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | NA |
Bhui RD et al., 2008 |
| 148 | Substitutions | Genomic: g.718C>G CDS: c.173C>G AnimoAcid: p.Ala58Gly |
Substitutions | NA |
Bhui RD et al., 2008 |
| 149 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Toth B et al.,2009 |
| 150 | Duplications | Genomic: g.171_193dup23 CDS: c.44_66dup23 AnimoAcid: p.Arg15fsX5 |
Duplications | Direct sequencing |
Toth B et al.,2009 |
| 151 | Deletion | Genomic: g.5301_5313del13 CDS: c.965_977del13 AnimoAcid: p.Leu323fsX51 |
Deletion | Direct sequencing |
Toth B et al.,2009 |
| 152 | Deletion | Genomic: g.7975delC CDS: c.1344delC AnimoAcid: p.Cys449fsX31 |
Deletion | Direct sequencing |
Toth B et al.,2009 |
| 153 | Deletion-Insertion | Genomic: g.7975delCinsTT CDS: c.1344delCinsTT AnimoAcid: p.Cys449Leufs |
Deletion-Insertion | Direct sequencing |
Sato U et al., 2004 |
| 154 | Substitutions | Genomic: g.8032G>A CDS: c.1400+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Sato U et al., 2004 |
| 155 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing, PCR based assay |
Dominguez M et al., 2006 |
| 156 | Substitutions | Genomic: g.1256T>C CDS: c.463+2T>C AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Dominguez M et al., 2006 |
| 157 | Substitutions | Genomic: g.835T>C CDS: c.290T>C AnimoAcid: p.Leu97Pro |
Substitutions | Direct sequencing, PCR based assay |
Dominguez M et al., 2006 |
| 158 | Substitutions | Genomic: g.784T>G CDS: c.239T>G AnimoAcid: p.Val80Gly |
Substitutions | Direct sequencing, PCR based assay |
Zaidi G et al., 2009 |
| 159 | Substitutions | Genomic: g.5242T>A CDS: c.906T>A AnimoAcid: p.Cys302X |
Substitutions | Direct sequencing, PCR based assay |
Zaidi G et al., 2009 |
| 160 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, PCR based assay |
Zaidi G et al., 2009 |
| 161 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Direct sequencing, PCR based assay |
Zaidi G et al., 2009 |
| 162 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Cys322fsX51 |
Deletion | Direct sequencing, PCR based assay |
Zaidi G et al., 2009 |
| 163 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Collins SM et al., 2006 |
| 164 | Substitutions | Genomic: g.835T>C CDS: c.290T>C AnimoAcid: p.Leu97Pro |
Substitutions | Direct sequencing |
Collins SM et al., 2006 |
| 165 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Nithiyananthan R et al., 2000 |
| 166 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Buzi F et al., 2003 |
| 167 | Substitutions | Genomic: g.8571G>A CDS: c.1450G>A AnimoAcid: p.Val484Met |
Substitutions | Direct sequencing |
Buzi F et al., 2003 |
| 168 | Deletion | Genomic: c.133-?_538+?del CDS: AnimoAcid: p.Glu45GlyfsX198 |
Deletion | Direct sequencing |
Ulinski T et al., 2006 |
| 169 | Substitutions | Genomic: g.213T>C CDS: c.86T>C AnimoAcid: p.Leu29Pro |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Kogawa K et al., 2002 |
| 170 | Substitutions | Genomic: g.7113G>C CDS: c.1096-1G>C AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Kogawa K et al., 2002 |
| 171 | Insertion | Genomic: g.7254_7255insGCCG CDS: c.1236_1237insGCCG AnimoAcid: p.Leu414GlyfsX12 |
Insertion | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2009 |
| 172 | Insertion | Genomic: g.220_221insT CDS: c.93_94insT AnimoAcid: p.Leu32SerfsX3 |
Insertion | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2009 |
| 173 | Duplications | Genomic: g.750_753dupCAGG CDS: c.205_208dupCAGG AnimoAcid: p.Asp70AlafsX148 |
Duplications | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2009 |
| 174 | Substitutions | Genomic: g.128A>G CDS: c.1A>G AnimoAcid: p.Met1Val |
Substitutions | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2009 |
| 175 | Duplications | Genomic: g.4155dupC CDS: c.845dupC AnimoAcid: p.Leu283SerfsX6 |
Duplications | Direct sequencing |
Faiyaz-Ul-Haque M et al., 2009 |
| 176 | Substitutions | Genomic: g.213T>C CDS: c.86T>C AnimoAcid: p.Leu29Pro |
Substitutions | Direct sequencing |
Nagafuchi S et al., 2007 |
| 177 | Substitutions | Genomic: g.7113G>C CDS: c.1096-1G>C AnimoAcid: |
Substitutions | Direct sequencing |
Nagafuchi S et al., 2007 |
| 178 | Substitutions | Genomic: g.182G>A CDS: c.55G>A AnimoAcid: p.Ala19Thr |
Substitutions | Direct sequencing, PCR based assay |
Liu C et al., 2010 |
| 179 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, PCR based assay |
Liu C et al., 2010 |
| 180 | Duplications | Genomic: g.4155dupC CDS: c.845dupC AnimoAcid: p.Leu283SerfsX6 |
Duplications | Direct sequencing |
Al-Owain M et al., 2010 |
| 181 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 182 | Substitutions | Genomic: g.777T>C CDS: c.232T>C AnimoAcid: p.Trp78Arg |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 183 | Substitutions | Genomic: g.174C>T CDS: c.47C>T AnimoAcid: p.Thr16Met |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 184 | Substitutions | Genomic: g.5237G>A CDS: c.901G>A AnimoAcid: p.Val301Met |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 185 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing |
Orlova EM et al., 2010 |
| 186 | Deletion | Genomic: g.6480_6487del8 CDS: c.1053_1060del8 AnimoAcid: p.Glu353ProfsX16 |
Deletion | Direct sequencing |
Orlova EM et al., 2010 |
| 187 | Substitutions | Genomic: g.5228G>A CDS: c.892G>A AnimoAcid: p.Glu298Lys |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 188 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 189 | Substitutions | Genomic: g.129T>C CDS: c.2T>C AnimoAcid: p.Met1Thr |
Substitutions | Direct sequencing |
Orlova EM et al., 2010 |
| 190 | Deletion | Genomic: g.5303_5315del13 CDS: c.967_979del13 AnimoAcid: p.Leu323SerfsX51 |
Deletion | Direct sequencing, PCR based assay |
Proust-Lemoine E et al., 2010 |
| 191 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing, PCR based assay |
Proust-Lemoine E et al., 2010 |
| 192 | Substitutions | Genomic: g.5313C>T CDS: c.977C>T AnimoAcid: p.Pro326Leu |
Substitutions | Direct sequencing, PCR based assay |
Proust-Lemoine E et al., 2010 |
| 193 | Deletion | Genomic: g.7211delC CDS: c.1193delC AnimoAcid: p.Pro398Argfs |
Deletion | Direct sequencing, PCR based assay |
Proust-Lemoine E et al., 2010 |
| 194 | Substitutions | Genomic: g.174C>T CDS: c.47C>T AnimoAcid: p.Thr16Met |
Substitutions | Direct sequencing, PCR based assay |
Kollios K et al., 2011 |
| 195 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | PCR based assay |
Meloni A et al., 2012 |
| 196 | Substitutions | Genomic: g.174C>T CDS: c.47C>T AnimoAcid: p.Thr16Met |
Substitutions | Direct sequencing |
Valenzise M et al., 2012 |
| 197 | Substitutions | Genomic: g.1110A>T CDS: c.319A>T AnimoAcid: p.Ser107Cys |
Substitutions | Direct sequencing |
Valenzise M et al., 2012 |
| 198 | Deletion | Genomic: g.1113delC CDS: c.322delC AnimoAcid: p.Gln108SerfsX39 |
Deletion | Direct sequencing |
Valenzise M et al., 2012 |
| 199 | Substitutions | Genomic: g.3894C>T CDS: c.769C>T AnimoAcid: p.Arg257X |
Substitutions | Direct sequencing |
Fierabracci A et al., 2012 |
| 200 | Deletion | Genomic: g.7232delC CDS: c.1214delC AnimoAcid: p.Pro405ArgfsX74 |
Deletion | Direct sequencing |
Fierabracci A et al., 2012 |
| 201 | Substitutions | Genomic: g.1254G>A CDS: c.463G>A AnimoAcid: p.Gly155SerfsX203 |
Substitutions | Direct sequencing |
Zhang J et al., 2013 |
| 202 | Substitutions | Genomic: g.189C>T CDS: c.62C>T AnimoAcid: p.Ala21Val |
Substitutions | Direct sequencing |
Palma A et al., 2013 |
| 203 | Substitutions | Genomic: g.777T>C CDS: c.232T>C AnimoAcid: p.Trp78Arg |
Substitutions | Direct sequencing |
Palma A et al., 2013 |
| 204 | Substitutions | Genomic: g.1206C>T CDS: c.415C>T AnimoAcid: p.Arg139X |
Substitutions | Direct sequencing |
Palma A et al., 2013 |
| 205 | Deletion-Insertion | Genomic: g.7945_7957del13insGT CDS: c.1314_1326del13insGT AnimoAcid: p.Asp439CysfsX |
Deletion-Insertion | Direct sequencing |
Palma A et al., 2013 |