PACIENTE ALELO 1nombre común (nombre

sistemático)

ALELO 2

1 IVS10nt-11G>A (c.1060-11G>A) IVS10nt-11G>A(c.1060-11G>A)

2 IVS10nt-11G>A(c.1060-11G>A) V388M (c.1162G>A)

3 IVS10nt-11G>A (c.1060-11G>A) N

4 V388M (c.1162G>A) E390G (c.1169A>G)

5 IVS10nt-3C>T (c.1060-3C>T)

6 V388M (c.1162G>A)

7 E390G (c.1169A>G) E390G (c.1169A>G)

8 IVS10nt-11G>A (c.1060-11G>A) E390G (c.1169A>G)

9 P362T (C.1084C>A) V388M (c.1162G>A)

10 IVS10nt-3C>T (c.1060-3C>T) V388M (c.1162G>A)