c.259C > G

Missense

p.His87Asp

[19]

c.263A > G

Missense

p.Tyr88Cys

[17]

c.265T > C

Missense

p.Cys89Arg

[14]

c.266G > A

Missense

p.Cys89Tyr

[20]

c.269G > A

Missense

p.Cys90Tyr

[25]

c.270C > G

Missense

p.Cys90Trp

[43]

c.270C > A

Missense

p.Cys90*

[44]

c.283T > C

Missense

p.Cys95Arg

[28]

c.286A > G

Missense

p.Asn96Asp

[34]

c.287A > G

Missense

p.Asn96Ser

[45]

c.289_295delCACAACG

Deletion

p.His97Cysfs*23

[14]

c.289_294delCACAAC

Deletion

p.His97_Ans98del

[35]

c.293A > G

Missense

p.Asn98Ser

[46]

c.301_307delCTGGTGC

Deletion

p.Leu101Trpfs*19

[31]

c.313 + 1G > A

Missense

p.?

[14]

c.314 − 3C > G

Splice Site

p.?

[46]

c.319delC

Deletion

p.Gln107Asnfs*15

[37]

c.321delA

Deletion

p.Gln107Hisfs*15

[40]

c.329C > A

Missense

p.Ser110*

[14]

c.334C > T

Missense

p.Gln112*

[14]

c.352C > T

Missense

p.Gln118*

[39]

c.353_360dupAGCTGGCC

Duplication

p.Leu121Serfs*4

[47]

c.374_375dupCC

Duplication

p.Val126Profs*40

[39]

c.383C > A

Missense

p.Ala128Asp

[48]

c.400delG

Deletion

p.Ala134Profs*31

[34]

c.406_409delGGTG

Deletion

p.Gly136Serfs*28

[34]

c.423G > A

Missense

p.Trp141*

[38]

c.430C > T

Missense

p.Arg144*

[23]

c.435dupG

Duplication

p.Arg146Glufs*23

[24]

c.435delG

Deletion

p.Arg146Glyfs*19

[49]

c.439C > T

Missense

p.Gln147*

[39]

c.448C > T

Missense

p.Gln150*

[28]

c.474A > T

Missense

p.Gly158Gly

[24]

c.475G > T

Missense

p.Glu159*

[38]

c.476_477delAG

Deletion

p.Glu159Valfs*9

[20]

c.480_486dupCAGTCTC

Duplication

p.Ile163Glnfs*8

[43]

c.480_481delCA

Deletion

p.Leu162Hisfs*6

[26]

c.481A > G

Missense

p.Ser161Gly

[19]

c.505C > T

Missense

p.Gln169*

[43]

c.510delC

Deletion

p.Asp171Thrfs*87

[31]

c.525_525 + 1delGG

Deletion

p.Asp176Thrfs*82

[25]

c.525 + 1G > C

Splice Site

p.?

[43]

c.525 + 1G > A

Splice Site

p.?

[17]