Table 1 Summary of Mutations Data for the Study Cohort

F1

P1

NM_003560.2: c.2370_2371del (p.Tyr790*); c.1506G > C (p.Lys502Asn)

N

Y

CM063050; CM063018

F1

P2

NM_003560.2: c.2370_2371del (p.Tyr790*); c.1506G > C (p.Lys502Asn)

N

Y

CM063050; CM063018

F2

P3

NM_003560.2: c.2370 T > G(p.Y790*); deletion of exon 2

N

Y

CM063050; This study

F3

P4

NM_003560.2: c.1982C > T (p.Thr661Met); c.109C > T (p.Arg37*)

N

Y

CM138339; CM063024

F4

P5

NM_003560.2: c.1613G > A (p.R538H); c.319dupC (p.L107PfsX10)

N

Y

CM165308; This study

F5

P6

NM_003560.2: c.1427 + 1G > A; c.1539del (p.Trp514fs)

N

Y

CS090239; This study

F6

P7

NM_003560.2: c.1613G > A (p.R538H); c.2370 T > G (p.Y790X)

N

Y

CM165308; CM063050

F7

P8

NM_003560.2: c.1903C > T (p.R635X); c.1798C > T (p.R600W)

N

Y

CM063025; CM145848

F8

P9

NM_003560.2: c.404 T > C (p.F135S); deletion of exon 6

N

Y

CM063051; This study

F9

P10

NM_003560.3: c.2370 T > G(p.Y790*); c.1046A > C(p.H349P)

N

Y

CM063050; This study

F10

P11

NM_003560.2: c.1997C > T (p.Thr666Ile)

Y

N

This study

F11

P12

NM_003560.2: c.2078 T > C (p.Leu693Pro); c.(−46 + 1_-1)_(209 + 1_210–1)

N

Y

This study; This study

F12

P13

NM_003560.2: c.1771C > T (p.R591W)

Y

N

CM090233

F13

P14

NM_003560.2: c.1125delA (p.Val376Trpfs*14)

Y

N

CD1310226

F14

P15

NM_003560.2: c.1911delC (p.Ser637Argfs*29)

Y

N

CD1310227

F14

P16

NM_003560.2: c.1911delC (p.Ser637Argfs*29)

Y

N

CD1310227

F15

P17

NM_003560.2: c.2218G > A (p.G740R)

Y

N

CM1310225

F16

P18

NM_003560.2: c.2070_2072delTGT (p.Val691del)

Y

N

CD063595

F17

P19

NM_003560.2: c.1772G > A (p.R591Q)

Y

N

CM063032

F18

P20

NM_003560.2: c.2251G > A (p.E751K)

Y

N

CM063028

F19

P21

NM_003560.2: c.2070_2072delTGT (p.Val691del)

Y

N

CD063595

F20

P22

NM_003560.2 c.1933C > T (p.R645*)

Y

N

CM121238

F15

P23

NM_003560.2: c.2218G > A (p.G740R)

Y

N

CM1310225

F19

P24

NM_003560.2: c.2070_2072delTGT (p.Val691del)

Y

N

CD063595

F21

P25

NM_003560.2: c.1933C > T (p.R645*)

Y

N

CM121238

F22

P26

NM_003560.2: c.1125delA (p.Val376Trpfs*14)

Y

N

CD1310226

F23

P27

NM_003560.2: c.1933C > T (p.R645*)

Y

N

CM121238

F19

P28

NM_003560.2: c.2070_2072delTGT (p.Val691del)

Y

N

CD063595