c.1127T > A

Missense

p.Met376Lys

[40]

c.1127T > C

Missense

p.Met376Thr

[27]

c.1129G > A

Missense

p.Ala377Thr

[27]

c.1132C > T

Missense

p.Pro378Ser

[45]

c.1133C > A

Missense

p.Pro378His

[48]

c.1135G > A

Missense

p.Glu379Lys

[31]

c.1139T > G

Missense

p.Val380Gly

[39]

c.1142T > C

Missense

p.Leu381Pro

[60]

c.1144G > C

Missense

p.Asp382His

[19]

c.1153_1157dupATCCG

Duplication

p.Thr387Serfs*30

[45]

c.1157G > A

Missense

p.Arg386His

[48]

c.1171G > T

Missense

p.Glu391*

[23]

c.1187C > A

Missense

p.Thr396Asn

[19]

c.1189G > A

Missense

p.Asp397Asn

[39]

c.1190A > G

Missense

p.Asp397Gly

[21]

c.1193T > A

Missense

p.Ile398Asn

[8]

c.1195T > C

Missense

p.Trp399Arg

[52]

c.1195T > G

Missense

p.Trp399Gly

[14]

c.1196G > C

Missense

p.Trp399Ser

[51]

c.1199C > A

Missense

p.Ala400Asp

[35]

c.1204G > A

Missense

p.Gly402Ser

[31]

c.1205G > A

Missense

p.Gly402Asp

[47]

c.1208T > C

Missense

p.Leu403Pro

[37]

c.1214T > A

Missense

p.Leu405Gln

[14]

c.1215delG

Deletion

p.Trp406Glyfs*9

[19]

c.1218G > C

Missense

p.Trp406Cys

[39]

c.1219G > A

Missense

p.Glu407Lys

[14]

c.1220A > G

Missense

p.Glu407Gly

[17]

c.1221G > T

Missense

p.Glu407Asp

[33]

c.1231C > T

Missense

p.Arg411Trp

[18]

c.1232G > C

Missense

p.Arg411Pro

[31]

c.1232G > A

Missense

p.Arg411Gln

[56]

c.1246G > A

Splice Site

p.Gly416Ser

[37]

c.1246 + 1G > A

Splice Site

p.?

[24]

c.1249A > T

Missense

p.Ile417Phe

[19]

c.1261T > G

Missense

p.Tyr421Asp

[47]

c.1269delA

Deletion

p.Phe425Serfs*14

[29]

c.1270C > A

Missense

p.Pro424Thr

[38]

c.1270C > T

Missense

p.Pro424Ser

[48]

c.1271C > G

Missense

p.Pro424Arg

[45]

c.1271C > T

Missense

p.Pro424Leu

[39]

c.1273T > C

Missense

p.Phe425Leu

[14]

c.1273T > G

Missense

p.Phe425Val

[41]

c.1274_1276delTCT

Deletion

p.Phe425del

[41]

c.1275C > G

Missense

p.Phe425Leu

[31]

c.1277A > G

Missense

p.Tyr426Cys

[24]

c.1280A > T

Missense

p.Asp427Val

[28]

c.1297C > T

Missense

p.Pro433Ser

[39]