Exon/Intron | Nucleotide change at cDNA level | Amino acid change (at RNA level) | Consequence | Patients, in whom this mutation was found in this study/ Reference of first description of the mutation |
---|---|---|---|---|
exon 1 | c.43GC>T | p.E15* | nonsense | Morscher et al. 2012 |
intron 1 | c.89+2_89+34del | p.? | splice | Morscher et al. 2012 |
intron 2 | c.137-2A>G | p.? | splice | Stadler et al. 2006 |
exon 3 | c.137G>A | p.G46E | missense | Nguyen et al. 2011 |
exon 3 | c.168C>G | p.N56K | missense | Morscher et al. 2012 |
exon 3 | c.193A>T | p.M65L | missense | #113/ This study |
exon 3 | c.227_228delTG | p.V76Gfs*4 | frameshift | unpublisheda |
exon 3 | c.251_252delGAb | p.R84Kfs*10 | deletion/frameshift | Stadler et al. 2006 |
exon 4 | c.369G>C | p.Q123H | missense | Stadler et al. 2006 |
exon 5 | c.375C>G | p.I125M | missense | Stadler et al. 2006 |
exon 5 | c.400G>A | p.E134K | missense | #32/ Dantas et al. 2005 |
exon 5 | c.479T>G | p.M160R | missense | Stadler et al. 2006 |
exon 6 | c.539G>T | p.G180V | missense | #83/ This study |
exon 6 | c.558delA | p.Q186Hfs*6 | deletion/frameshift | #83, 93a/ Morscher et al. 2012 |
exon 6 | c.559T>C | p.S187P | missense | #20, Dantas et al. 2005 |
intron 6 | c.639+2T>A | p.S164Rfs*3 | splice, exon 6 skipping | #54/ This study |
exon 7 | c.640_641delGG | p.G214Nfs*5c | deletion/frameshift | #43a, 43b/ Dantas et al. 2005 |
exon 7 | c.658_662delTCAGA | p.S220Tfs*15 | deletion/frameshift | #112/ This study |
exon 7 | c.694C>T | p.R232W | missense | #41/ Dantas et al. 2005 |
intron 7 | c.762-1G>A | p. ? | splice | Nguyen et al. 2011 |
exon 8 | c.803C>A | p.A268D | missense | #115/ This study |
exon 8 | c.841C>T | p.R281* | nonsense | Morscher et al. 2012 |
exon 8 | c.842G>A | p.R281Q | missense | Morscher et al. 2012 |
exon 8 | c.863A>G | p.E288G | missense | #57/ This study |
exon 8 | c.866C>T | p.A289V | missense | Baumgartner et al. 2001 |
exon 8 | c.872C>T | p.A291V | missense | #25/ Dantas et al. 2005 |
intron 8 + exon 9 | c.873+4524_6787del2264 | 2 transkripts: p.P292Gfs*18 p.P292_R361del | large deletion, exon 9 and exon 9 and 10 skipping | #62, 96a, 96c/ Eminoglu et al. 2009 |
exon 9 | c.901_902delAA | p.K301Afs*10 | deletion/ frameshift | Uematsu et al. 2007 |
exon 9 | c.945T>A | p.Y315* | nonsense | Stadler et al. 2006 |
exon 10 | c.974T>G | p.M325R | missense | Gallardo et al. 2001 |
exon 10 | c.980C>G | p.S327* | nonsense | #54/ Morscher et al. 2012 |
exon 10 | not published | p.Q372P | missense | Desviat et al. 2003 |
exon 11 | c.1114C>T | p.Q372* | nonsense | #50/ This study |
exon 11 | c.1135G>A | p.G379S | missense | Stadler et al. 2006 |
exon 11 | c.1136G>A | p.G379D | missense | #71/ This study |
exon 11 | c.1139A>C | p.H380P | missense | Morscher et al. 2012 |
exon 11 | c.1155A>C | p.R385S | missense | #20, 27, 28, 31, 53, 68, 105, 115, 138/ Baumgartner et al. 2001, Gallardo et al. 2001 |
exon 11 | c.1193_1194delTG | p.V398Gfs*19 | deletion/frameshift | #113/ This study |
exon 11 | c.1225C>T | p.R409* | nonsense | Stadler et al. 2006 |
exon 11 | c.1264_1265insGd | p.Q422Rfs*10d | insertion/frameshift | Baumgartner et al. 2001 |
intron 11 | c.1268-2A>G | p.G423Efs*15 | splice, exon 12/13 skipping | Stadler et al. 2006 |
exon 12 | c.1302T>G | p.I434M | missense | #74/ This study |
exon 12 | c.1310T>C | p.L437P | missense | Baumgartner et al. 2001 |
exon 12 | c.1315G>A | p.V439M | missense | #53/ This study |
exon 12 | c.1333C>T | p.Q445* | nonsense | Morscher et al. 2011 |
exon13 | c.1380T>G | p.I460M | missense | Uematsu et al. 2007 |
exon 13 | c.1522_1544del | p.L508Hfs*17 | deletion | Morscher et al. 2012 |
exon 13 | c.1526delGe | p.C509Sfs*14 | deletion/frameshift | #46, 59, 73c, 87/ Dantas et al. 2005 |
exon 13 | c.1527C>A | p.C509* | nonsense | #36/ Dantas et al. 2005 |
exon 13 | c.1541dupG | p.L515Sfs*18 | insertion/frameshift | Morscher et al. 2012 |
exon 13 | c.1594G>C | p.D532H | splice | Baumgartner et al. 2001 |
intron 13 | c.1594+3A>G | p.V461Nfs*13 | splice, exon 13 skipping | Morscher et al. 2012 |
exon 14 | c.1604C>T | p.S535F | missense | Holzinger et al. 2001 |
intron 14 | c.1681+5G>A | p.Q533_N561del | splice, exon 14 skipping | Stadler et al. 2006 |
intron 14 | c.1682-3A>G | p.N561Kfs*10 | splice/frameshift | Dantas et al. 2005 |
exon 15 | c.1695_1700del | p.V566_T567del | deletion | Morscher et al. 2012 |
exon 16 | c.1750C>T | p.Q584* | nonsense | Uematsu et al. 2007 |
exon 16 | c.1820delG | p.S607Ifs*5 | deletion/frameshift | #103/ This study |
exon 17 | c.1882G>T | p.E628* | nonsense | #50/ This study |
exon 17 | c.1930G>T | p.E644* | nonsense | #43a, 43b/ Dantas et al. 2005 |
exon 18 | c.2009_2043del35 | p.A670Dfs*34 | deletion/frameshift | #138/ This study |
exon 19 | c.2079delA | p.V694* | nonsense | #60, 70a/ Holzinger et al. 2001 |
exon 19 | c.2088dupA | p.V697Sfs*19 | insertion/frameshift | #46/ Dantas et al. 2005 |
exon 19 | c.2123dupA | p.H708Qfs*8 | insertion/frameshift | #74/ This study |