Location

Mutation Category

Domain

Nucleotide Change

Amino Acid Change

5' UTR

Missense

c.*-944/5GC>AT

5' UTR and Exon 1

Deletion

c.?_-540_76+?del

Exon 1

Missense

c.28C>T

p.T10W

Nonsense

c.71C>A

p.A24E

Intron 1

Splice-site

c.76+5G>A

Exon 2

Nonsense

ECD

c.124C>T

p.Q42X

Frameshift

ECD

c.186insTACC

p.G63fsX1

Frameshift

ECD

c.189_207delins14

p.S64EfsX32

Deletion

ECD

c.189-209del21

p.del6470(STCYGLW)

Nonsense

ECD

c.201T>G

p.Y67X

Missense

ECD

c.247G>A

p.G83R

Exons 1-4

Deletion

ECD

c.1-?_419+?del

Exons 1-8

Deletion

ECD

c.1-?_1128+?del

Intron 2

Splice-site

ECD

c.247+1delCAAGTG

Splice-site

ECD

c.247+1_+4 delGTAA

p.C84_S140del

Splice-site

ECD

c.248-2A>G

Splice-site

ECD

c. 248-5 delTATAGGinsAC

Exon 3

Missense

ECD

c.248G>A

p.G83E

Missense

ECD

c.250T>C

p.C84R

Missense

ECD

c.250T>G

p.C84G

Frameshift

ECD

c.261insA

p.87fsX9

Missense

ECD

c.295T>C

p.C99R

Missense

ECD

c.296G>T

p.C99F

Missense

ECD

c.296G>A

p.C99Y

Nonsense

ECD

c.339C>A

p.Y113X

Nonsense

ECD

c.339C>G

p.Y113X

Missense

ECD

c.350G>A

p.C117Y

Nonsense

ECD

c.354-355TA>AG

p.C118X

Missense

ECD

c.367T>C

p.C123R

Missense

ECD

c.370A>G

p.N124D

Missense

ECD

c.377A>G

p.N126S

Deletion

ECD

c.248-?_418+?del

Exon 2-3

Deletion

ECD

c.77-?_418+?del

Intron 3

Splice-site

ECD

c.418+1G>C

Splice-site

ECD

c.418+5G>A

Exons 4-5

Deletion

ECD

c.419-?_621+?del

Exon 5

Nonsense

TM

c.583G>T

p.E195X

Missense

TM

c.604A>T

p.N202Y

Exon 6

Frameshift

KD

c.612delA

p.L204fsX5

Nonsense

KD

c.631C>T

p.R211X

Frameshift

KD

c.660insG

p.G220fsX4

Frameshift

KD

c.690-691delAGinsT

p.K239fsX21

Missense

KD

c.794A>G

p.E265G

Missense

KD

c.797G>C

p.R266T

Missense

KD

c.806G>T

p.A268V

Intron 6

Splice-site

KD

c.852+1G>C

Splice-site

KD

c.853-1G>C

Exon 7

Nonsense

KD

c.928A>T

p.R310X

Missense

KD

c.932G>A

p.G311E

Exon 8

Missense

KD

c.1019T>C

p.L340P

Nonsense

KD

c.1189-1190delTG

p.C347X

Missense

KD

c.1042G>A

p.V348E

Frameshift

KD

c.1095delC

p.R365fsX8

Frameshift

KD

c.1099-1103delGGGGA

p.E368fsX1

Deletion

KD

c.968-?_1129+?del

Intron 8

Splice-site

KD

c.968-5A>G

Exon 9

Missense

KD

c.1157A>T

p.E386V

Missense

KD

c.1171G>A

p.A391T

Nonsense

KD

c.1207C>T

p.Q403X

Frameshift

KD

c.1214delA

p.D405fsX6

Nonsense

KD

c.1248-1251delATTT

p.F417X

Frameshift

KD

c.1271delTCCCAGinsCGGAGA

p.F424fsX10

Intron 9

Splice-site

KD

c.1276+1G>A

Splice-site

KD

c.1277-9A>G

Exon 10

Nonsense

KD

c.1297C>T

p.Q433X

Frameshift

KD

c.1392delA

p.A465fsX9

Exon 11

Missense

KD

c.1460A>T

p.D487V

Missense

KD

c.1472G>A

p.R491Q

Exon 12

Missense

CD

c.1598A>G

p.H533R

Frameshift

CD

c.2410-2413delGTCA

p.V804fsX1

Frameshift

CD

c.2441-2442delAC

p.H814fsX2

Frameshift

CD

c.2504insA

p.T835fsX6

Frameshift

CD

c.2609del T

p.L870fsX1

Nonsense

CD

c.2626C>T

p.Q876X

Nonsense

CD

c.2695C>T

p.R899X

Nonsense

CD

c.2789C>G

p.S930X

Exon 13

Missense

CD

c.2945A>G

p.L982R