c.1010delT

Deletion

p.Leu337Argfs*17

[25]

c.1013T > A

Missense

p.Val338Asp

[30]

c.1022A > T

Missense

p.Asn341Ile

[30]

c.1023C > G

Missense

p.Asn341Lys

[31]

c.1027C > T

Missense

p.Gln343*

[14]

c.1030T > C

Missense

p.Cys344Arg

[61]

c.1031G > T

Missense

p.Cys344Phe

[31]

c.1031G > A

Missense

p.Cys344Tyr

[33]

c.1039G > C

Missense

p.Ala347Pro

[31]

c.1040C > A

Missense

p.Ala347Asp

[45]

c.1040_1042delCCG

Deletion

p.Ala347del

[62]

c.1042delG

Deletion

p.Asp348Thrsf*6

[39]

c.1043_1048 + 1dupACCTGGG

Insertion

p.?

[14]

c.1046T > C

Missense

p.Leu349Pro

[45]

c.1048G > C

Missense

p.Gly350Arg

[39]

c.1048G > A

Missense

p.Gly350Ser

[26]

c.1048 + 1G > C

Missense

p.?

[14]

c.1048 + 1G > A

Splice Site

p.?

[25]

c.1048 + 5G > T

Splice Site

p.?

[47]

c.1048 + 5G > A

Missense

p.?

[14]

c.1049-4_1049-2delACAinsCC

Delins

p.?

[28]

c.1054G > C

Missense

p.Ala352Pro

[35]

c.1055C > A

Missense

p.Ala352Asp

[46]

c.1061T > A

Missense

p.Met354Lys

[29]

c.1061_1068delTGCACTCA

Deletion

p.Met354Thrfs*35

[39]

c.1062_1080dup19

Duplication

p.Try361Alafs*37

[40]

c.1069C > T

Missense

p.Gln357*

[48]

c.1073delG

Deletion

p.Gly358Alafs*57

[39]

c.1083C > A

Missense

p.Tyr361*

[14]

c.1102_1105delCCGA

Deletion

p.Pro368Glufs*46

[14]

c.1107_1108delAG

Deletion

p.Arg369Serfs*22

[39]

c.1111G > A

Missense

p.Gly371Ser

[19]

c.1112dupG

Duplication

p.Thr372Hisfs*20

[23]

c.1115C > T

Missense

p.Thr372Ile

[28]

c.1118delA

Deletion

p.Lys373Serfs*42

[19]

c.1120C > T

Missense

p.Arg374Trp

[38]

c.1120_1137del18

Deletion

p.Arg374_Glu379del

[39]

c.1121G > A

Missense

p.Arg374Gln

[23]

c.1122_1125dupGTAC

Duplication

p.Met376Valfs*17

[31]

c.1123T > C

Missense

p.Tyr375His

[23]

c.1124A > G

Missense

p.Tyr375Cys

[52]

c.1126A > G

Missense

p.Met376Val

[31]

c.1127T > G

Missense

p.Met376Arg

[56]