c.667G > C

Missense

p.Gly223Arg

[31]

c.670G > A

Missense

p.Glu224Lys

[25]

c.673A > T

Missense

p.Ser225Cys

[16]

c.673_674delAG

Deletion

p.Ser225Cysfs*11

[47]

c.676G > C

Missense

p.Val226Leu

[30]

c.677T > A

Missense

p.Val226Glu

[45]

c.682delG

Deletion

p.Val228Serfs*30

[31]

c.683T > A

Missense

p.Val228Asp

[19]

c.686A > T

Missense

p.Lys229Met

[55]

c.686A > G

Missense

p.Lys229Arg

[31]

c.696_698delCTC

Deletion

p.Ser233del

[56]

c.698C > T

Missense

p.Ser233Leu

[37]

c.698C > A

Missense

p.Ser233*

[57]

c.704delA

Deletion

p.Asp235Valfs*23

[31]

c.709C > T

Missense

p.Gln237*

[25]

c.716G > A

Missense

p.Trp239*

[46]

c.743_744delCA

Deletion

p.Thr248Serfs*143

[29]

c.760_762delGAC

Deletion

p.Asp254del

[18]

c.759_761delCGA

Deletion

p.Asp254del

[31]

c.772 + 3_772 + 4dupAA

Duplication

p.?

[43]

c.772 + 5G > A

Missense

p.?

[14]

c.772 + 21T > A

Splice Site

p.?

[25]

c.773-2A > G

Splice Site

p.?

[31]

c.773-2A > C

Splice Site

p.?

[19]

c.778A > C

Missense

p.Ile260Leu

[24]

c.793A > C

Missense

p.Thr265Pro

[37]

c.811_823del13bp

Deletion

p.Thr271Serfs*26

[35]

c.818T > C

Missense

p.Leu273Pro

[48]

c.821_824dupGGCT

Duplication

p.Ile276Alafs*117

[40]

c.822G > A

Missense

p.Trp274*

[45]

c.827T > C

Missense

p.Ile276Thr

[48]

c.835_837dupTAC

Duplication

p.Tyr279dup

[14]

c.838C > G

Missense

p.His280Asp

[25]

c.839A > G

Missense

p.His280Arg

[45]

c.842delA

Deletion

p.Glu281Glyfs*20

[26]

c.851C > T

Missense

p.Ser284Phe

[48]

c.853dupC

Duplication

p.Leu285Profs*107

[20]

c.853C > T

Missense

p.Leu285Phe

[31]

c.854T > C

Missense

p.Leu285Pro

[58]

c.858C > G

Missense

p.Tyr286*

[25]

c.858C > A

Missense

p.Tyr286*

[35]

c.863_909del47

Deletion

p.Phe288Cysfs*88

[14]

c.864dupT

Duplication

p.Leu289Serfs*103

[38]