Table 1 Reported mutations in AP3B1 gene

c.305T > C

p.Leu102Pro

Exon 4

Missense

c.716G > A

p.Trp239Ter

Exon 7

Nonsense

c.904A > T

p.Arg302Ter

Exon 8

Nonsense

c.1525C > T

p.Arg509Ter

Exon 15

Nonsense

c.1739T > G

p.Leu580Arg

Exon 16

Missense

c.1975G > T

p.Glu659Ter

Exon 18

Nonsense

c.2041G > T

p.Glu681Ter

Exon 18

Nonsense

IVS10 ds + 5 G > A

–

Intron 10

Splicing

IVS11 as − 1 G > C

–

Intron 11

Splicing

IVS14 ds + 6T > C

–

Intron 14

Splicing

IVS23 ds − 108 C > G

–

Intron 23

Splicing

c.54_57del

p.Glu19TrpfsTer22

Exon 1

Deletion

c.143_147del

p.Lys48AsnfsTer10

Exon 2

Deletion

c.167_171del

p.Asp56GlyfsTer2

Exon 2

Deletion

c.1744_1749del

p.Val582_Pro583del

Exon 16

Deletion

c.2760_2766del

p.Glu921AsnfsTer4

Exon 23

Deletion

c.3212_3216del

p.Ile1071LysfsTer3

Exon 27

Deletion