Table 1 Summary of DDB2 mutations based on GenBank accession no. NM_000107.3

A 28-year-old woman

Chinese

c.111_112del

p.A39Efs*6

This paper

XP23V

Italian

c.703_1023del

p.Leu235_Lys341del

Rapic-Otrin, et al. Hum Mol Genet. 2003 Jul 1;12(13):1507–22.

XP27V

Italian

c.730_733delAAAG

p.Lys244X

c.703_880del

p.Trp236Valfs*

c.703_1023del

p.Leu235_Lys341del

XP25V

Italian

c.919G > T

p.Asp307Tyr

GM01389

American

c.1049 T > C

p.Leu350Pro

c.1045_1047delAAC

p.Asn349del

XP98BR

Caucasian

c.161G > A

p.Trp54X

Fassihi, et al. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236–45

XP105BR

Caucasian

c.1070C > T

p.Pro357Leu

c.716G > T

p.Arg239Ile

XP100BR

Caucasian

c.457-2A > C

Splice

XP115BR

Pakistani

c.1149delG

p.Met383fs

XP82TO

Japanese

c.730A > G

p.Lys244Glu

Nichols, et al. J Biol Chem. 1996 Oct 4;271(40):24317–20.

XP2RO

Dutch

c.818G > A

p.Arg273His

XP51MAN-1

Tunisian

c.1138delG

p.Lys381Argfs*2

Ben Rekaya, et al. J Dermatol Sci. 2018 Feb;89(2):172–180.

A 12-year-old boy

unknown

c.574C > T

p.Arg192X

Vahteristo, et al. J Med Genet. 2007 Nov;44(11):718–20.

Ops1

Japanese

c.937C > T

p.Arg313X

Itoh, et al. J Invest Dermatol. 1999 Aug;113(2):251–7.

XP37BE

American/Dutch

c.818G > A

p.Arg273His

Oh, et al. J Invest Dermatol. 2011 Mar;131(3):785–8.

XP66BE

XP1GO

German

c.914C > A

p.Thr305Asn

XP408BE

American

c.1049 T > C

p.Leu350Pro

c.1045_1047delAAC

p.Asn349del