c.140G > C

Missense

p.Arg47Pro

[27]

c.142G > A

Missense

p.Gly48Arg

[31]

c.143G > A

Missense

p.Gly48Glu

[32]

c.143_147delGGGCCinsAGCCT

Delins

p.Gly48_Ala49delinsGluPro

[33]

c.145dupG

Duplication

p.Ala49Glyfs*120

[34]

c.145delG

Deletion

p.Ala49Profs*5

[35]

c.147delC

Deletion

p.Trp50Glyfs*4

[36]

c.148T > G

Missense

p.Trp50Gly

[37]

c.149G > A

Missense

p.Trp50*

[29]

c.150G > T

Missense

p.Trp50Cys

[38]

c.150G > A

Missense

p.Trp50*

[39]

c.152G > A

Missense

p.Cys51Tyr

[34]

c.154A > G

Missense

p.Thr52Ala

[24]

c.155delC

Deletion

p.Thr52Lysfs*2

[30]

c.164_169delTGGTGC

Deletion

p.Leu55_Val56del

[40]

c.172G > T

Missense

p.Glu58*

[35]

c.183delG

Deletion

p.Arg61Serfs*61

[19]

c.190delC

Deletion

p.Gln64Argfs*58

[39]

c.191delA

Deletion

p.Gln64Argfs*58

[24]

c.193G > T

Missense

p.Glu65*

[14]

c.197A > C

Missense

p.His66Pro

[37]

c.199C > T

Missense

p.Arg67Trp

[35]

c.200G > A

Missense

p.Arg67Gln

[38]

c.202G > T

Missense

p.Gly68Cys

[27]

c.203dupG

Duplication

p.Cys69Leufs*100

[40]

c.203delG

Deletion

p.Gly68Alafs*54

[39]

c.205_209dupTGCGG

Duplication

p.Asn71Alafs*53

[20]

c.205T > C

Missense

p.Cys69Arg

[37]

c.206G > T

Missense

p.Cys69Phe

[19]

c.206G > A

Missense

p.Cys69Tyr

[25]

c.208G > A

Missense

p.Gly70Arg

[19]

c.214_219delTTGCAC

Deletion

p.Leu72_His73del

[19]

c.215delT

Deletion

p.Leu72Cysfs*50

[29]

c.218_219insAA

Insertion

p.His73Glnfs*50

[28]

c.229_240del12

Deletion

p.Cys77_Arg80del

[29]

c.230G > A

Missense

p.Cys77Tyr

[20]

c.231C > G

Missense

p.Cys77Trp

[34]

c.235G > A

Missense

p.Gly79Arg

[40]

c.237dupG

Duplication

p.Arg80Alafs*89

[23]

c.243dupC

Duplication

p.Thr82Hisfs*87

[21]

c.244_246delACC

Deletion

p.Thr82del

[27]

c.246delC

Deletion

p.Glu83Serfs*39

[41]

c.252dupC

Duplication

p.Val85Argfs*84

[42]