c.525 + 1delG

Deletion

p.?

[19]

c.525 + 3A > G

Splice Site

p.?

[17]

c.525 + 3A > T

Splice Site

p.?

[50]

c.526-7C > G

Splice Site

p.?

[37]

c.526-3C > G

Splice Site

p.?

[30]

c.526-1G > A

Missense

p.?

[14]

c.526G > T

Missense

p.Asp176Tyr

[37]

c.526delG

Deletion

p.Asp176Thrfs*82

[19]

c.536A > C

Missense

p.Asp179Ala

[51]

c.540_541insA

Insertion

p.Asp181Argfs*44

[29]

c.563delC

Deletion

p.Ser188*

[19]

c.567delG

Deletion

p.Leu190Serfs*68

[47]

c.573delC

Deletion

p.Phe192Serfs*66

[26]

c.590C > T

Missense

p.Thr197Ile

[24]

c.593T > A

Missense

p.Val198Glu

[52]

c.598C > G

Missense

p.Arg200Gly

[43]

c.601C > T

Missense

p.Gln201*

[45]

c.601C > A

Missense

p.Gln201Lys

[30]

c.602A > G

Missense

p.Gln201Arg

[53]

c.602A > C

Missense

p.Gln201Pro

[19]

c.611T > G

Missense

p.Leu204Trp

[19]

c.614T > G

Missense

p.Val205Gly

[43]

c.617A > G

Missense

p.Glu206Gly

[20]

c.617_625delAGTGTGTGG

Deletion

p.Glu206_Val208del

[54]

c.620delG

Deletion

p.Cys207Leufs*51

[14]

c.623_624dupTG

Duplication

p.Gly209Trpfs*50

[39]

c.626-9_629del13

Deletion

p.?

[37]

c.626-5_634del14

Deletion

p.?

[39]

c.626-3C > G

Splice Site

p.?

[55]

c.632G > A

Missense

p.Gly211Asp

[51]

c.639T > G

Missense

p.Tyr213*

[14]

c.641delG

Deletion

p.Gly214Alafs*44

[45]

c.643G > A

Missense

p.Glu215Lys

[31]

c.647T > G

Missense

p.Val216Gly

[19]

c.649T > G

Missense

p.Trp217Gly

[45]

c.650G > A

Missense

p.Trp217*

[20]

c.651G > A

Missense

p.Trp217*

[24]

c.653_654delGGinsCC

Delins

p.Arg218Pro

[52]

c.656G > A

Missense

p.Gly219Asp

[24]

c.661T > G

Missense

p.Trp221Gly

[14]

c.662G > A

Missense

p.Trp221*

[19]

c.663G > A

Missense

p.Trp221*

[47]

c.664_668delCACGG

Deletion

p.His222*

[31]