c.1298C > G

Missense

p.Pro433Arg

[24]

c.1299delC

Deletion

p.Ser434Alafs*5

[23]

c.1302_1303delCTinsA

Delins

p.Ser434Argfs*5

[37]

c.1309delG

Deletion

p.Asp437Thrfs*2

[19]

c.1310A > G

Missense

p.Asp437Gly

[19]

c.1313T > C

Missense

p.Met438Thr

[39]

c.1313T > G

Missense

p.Met438Arg

[19]

c.1315A > T

Missense

p.Lys439*

[14]

c.1318_1320delAAG

Deletion

p.Lys440del

[24]

c.1321G > A

Missense

p.Val441Met

[48]

c.1324_1326delGTG

Deletion

p.Val442del

[19]

c.1324G > A

Missense

p.Val442Met

[53]

c.1325T > C

Missense

p.Val442Ala

[57]

c.1331_1332dupTG

Duplication

p.Asp445Trpfs*21

[14]

c.1336C > T

Missense

p.Gln446*

[19]

c.1345C > A

Missense

p.Pro449Thr

[47]

c.1345C > T

Missense

p.Pro449Ser

[45]

c.1346C > T

Missense

p.Pro449Leu

[29]

c.1347dupC

Duplication

p.Thr450Hisfs*4

[14]

c.1354_1355delCC

Deletion

p.Pro452*

[14]

c.1355C > T

Missense

p.Pro452Leu

[48]

c.1377 + 1G > A

Splice Site

p.?

[41]

c.1378-2A > G

Splice Site

p.?

[29]

c.1378-1G > T

Splice Site

p.?

[47]

c.1385C > G

Missense

p.Ser462*

[63]

c.1388delG

Deletion

p.Gly463Alafs*2

[53]

c.1390delC

Deletion

p.Leu464*

[64]

c.1396C > T

Missense

p.Gln466*

[19]

c.1408G > T

Missense

p.Glu470*

[39]

c.1413C > A

Missense

p.Cys471*

[24]

c.1428dupC

Duplication

p.Ser477Leufs*17

[31]

c.1433C > A

Missense

p.Ala478Asp

[58]

c.1435C > T

Missense

p.Arg479*

[63]

c.1436G > A

Missense

p.Arg479Gln

[61]

c.1436G > C

Missense

p.Arg479Pro

[45]

c.1436G > T

Missense

p.Arg479Leu

[31]

c.1438C > T

Missense

p.Leu480Phe

[20]

c.1450C > G

Missense

p.Arg484Gly

[65]

c.1450C > T

Missense

p.Arg484Trp

[18]

c.1450delCinsTG

Delins

p.Arg484Trpfs*10

[63]

c.1451G > A

Missense

p.Arg484Gln

[20]

c.1451G > T

Missense

p.Arg484Leu

[57]

c.1460A > C

Missense

p.Lys487Thr

[51]

c.1468C > T

Missense

p.Gln490*

[18]

c.1475T > A

Missense

p.Ile492Asn

[8]