ATR-X patient no. | Mutation |
---|---|
1 | c.109C>T; p.R37X |
2 | c.109C>T; p.R37X |
3 | c.109C>T; p.R37X |
4 | c.109C>T; p.R37X |
5 | c.109C>T; p.R37X |
6 | c.730A>C; p.I244L |
7 | c.758T>C; p.L253S |
8 | c.736T>C; p.R246C |
9 | c.736C>T; P.R246C |
10 | c.952G>T; p.G249C |
11 | c.4817G>A; p.S1606N |
12 | c.5579A>G; p.N1860S |
13 | c.5786A>G; p.K1929R |
14 | c.6254G>A; p.R2085H |
15 | c.6593A>G; p.H2198R |
16 | c.7156C>T; p.R2386X |
17 | c.7366_7367 InsA; p.M2456Nfs X42 |
18 | Deletion of exon 2 |