c.866T > C

Missense

p.Leu289Pro

[24]

c.870delG

Deletion

p.Arg219Aspfs*10

[14]

c.874delC

Deletion

p.Gln292Argfs*9

[30]

c.874C > T

Missense

p.Gln292*

[19]

c.875A > C

Missense

p.Gln292Pro

[26]

c.881T > G

Missense

p.Leu294Arg

[45]

c.905T > G

Missense

p.Leu302Arg

[26]

c.913T > C

Missense

p.Ser305Pro

[48]

c.913delT

Deletion

p.Ser305Profs*49

[59]

c.914C > T

Missense

p.Ser305Phe

[17]

c.916G > C

Missense

p.Ala306Pro

[31]

c.917C > A

Missense

p.Ala306Glu

[30]

c.921_927dupATGCGGC

Duplication

p.Leu310Metfs*84

[47]

c.924C > A

Missense

p.Cys308*

[38]

c.925G > T

Missense

p.Gly309Cys

[25]

c.925G > A

Missense

p.Gly309Ser

[39]

c.936C > G

Missense

p.His312Gln

[60]

c.940C > T

Missense

p.His314Tyr

[31]

c.941_951del11

Deletion

p.His314Leufs*74

[30]

c.950T > C

Missense

p.Ile317Thr

[14]

c.956G > A

Missense

p.Gly319Asp

[25]

c.961C > T

Missense

p.Gln321*

[39]

c.969dupA

Duplication

p.Pro324Thrfs*68

[43]

c.972delA

Deletion

p.Ala325Profs*29

[31]

c.976A > G

Missense

p.Ile326Val

[59]

c.982C > T

Missense

p.His328Tyr

[17]

c.983A > C

Missense

p.His328Pro

[27]

c.985C > T

Missense

p.Arg329Cys

[14]

c.986G > A

Missense

p.Arg329His

[23]

c.988G > T

Missense

p.Asp330Tyr

[35]

c.988G > C

Missense

p.Asp330His

[30]

c.988G > A

Missense

p.Asp330Asn

[39]

C.991_1044del54bp

Missense

p.Phe331_Asp348del54bp

[30]

c.992T > C

Missense

p.Phe331Ser

[24]

c.994_995insGACTTA

Insertion

p.Phe331_Lys332insArgLeu

[14]

c.997A > G

Missense

p.Ser333Gly

[26]

c.998G > T

Missense

p.Ser333Ile

[38]

c.998G > A

Missense

p.Ser333Asn

[14]

c.1000delC

Deletion

p.Arg334Alafs*20

[54]

c.1000_1005delCGCAATinsG

Delins

p.Arg334Glyfs*56

[31]

c.1003A > C

Missense

p.Asn335His

[45]

c.1010dupT

Duplication

p.Val338Glyfs*54

[14]

c.1010T > C

Missense

p.Leu337Pro

[31]