Table 1 Mutations detected in exon 34 of SRCAP in individuals with FHS

Glu2389*

c.7165G > T

2

Mother/Daughter [8]

Gln2407*

c.7219C > T

1

Gln2407fs*35

c.7218_7219delTC

1

Asn2410fs*32

c.7230insA

1

Thr2425fs*17

c.7274insC

1

Arg2435*

c.7303C > T

13

2nd Recurrent mutation

Ala2440fs*3

c.7316dupC

1

Arg2444*

c.7330C > T

24

Most frequent Recurrent mutation

Pro2459fs*125

c.7374dupT

2

Pro2459fs*16

c.7376delC

1

Thr2512fs*5

c.7533_7534insAA

1

Gln2517fs*5

c.7549delC

1

Asn2618fs*11

c.7852insC

1

Arg2748*

c.8242C > T

2

Mother/Daughter [7]