Patient | Geographic origin | Location | DNA change | Protein change |
Homozygous | ||||
169 | Italy | [34]+[34] | c.[5647C>T]+[5647C>T] | p. [R1883X]+[R1883X] |
Compound | ||||
170 | Italy | [6]+[25, Intron 26] | c.[670C>T]+[3876_4053+158del] | p. [R224X]+[E1279-K1351del] |
6195 | USA | [Intron 8]+[9] | c.[1089+1G>A]+[1108A>T] | p. [splice*]+[I370F] |
8149 | Switzerland | [13]+[13] | c.[1645A>G]+[1667A>G] | p. [N549D]+[D556G] |
8145 | Switzerland | [27]+[61] | c.[4348C>T]+[10365G>C] | p. [Q1450X]+[Q3455H] |
8171 | Switzerland | [27]+[72] | c.[4348C>T]+[12397G>T] | p. [Q1450X]+[E4133X] |
8182 | Switzerland | [33]+[72] | c.[5281C>T]+[12397G>T] | p. [R1761X]+[E4133X] |
8143 | Switzerland | [34]+[49] | c.[5557A>T]+[8029C>T] | p. [K1853X]+[R2677X] |
167 | Italy | [Intron 34]+[61] | c.[5710-2A>G]+[10365G>C] | p. [C1904-K1909del]+[Q3455H] |
8177 | Switzerland | [41]+[76] | c.[6791G>A]+[13194_13197del] | p. [S2264N]+[D4398EfsX16] |
6191 | USA | [12]+[45]+[63] | c.[1619T>C]+[7502G>C]+[10615C>T] | p. [F540L]+[R2501P]+[R3539C] |
6127 | Switzerland | [51]+[77] | c.[8485G>T]+[13486C>T] | p. [V2829F]+[R4496X] |
8131 | Switzerland | [51]+[77] | c.[8497C>G]+[13486C>T] | p. [R2833G]+[R4496X] |
Heterozygous | ||||
206 | Italy | [32]+[nd] | c.[5146C>T]+[nd] | p. [R1716W]+[nd] |
8103 | Switzerland | [48]+[nd] | c.[7888A>T]+[nd] | p. [R2630W]+[nd] |
6476 | Switzerland | [76]+[nd] | c.[13194_13197del]+[nd] | p. [D4398EfsX16]+[nd] |
nd, not determined.
Novel mutations are depicted in bold.
*Two different transcripts, leading to p.T326-P363del and p.T326VfsX25, were found for the c.1089+1G>A mutation.