Genes Mutations Symptoms
XPD G47R XP (Lehmann, 2001)
XPD T76A XP
XPD D234N XP
XPD R511Q XP
XPD S541R XP
XPD Y542C XP
XPD R601L XP
XPD R601W XP
XPD R666W XP
XPD D683W XP
XPD R683Q XP
XPD Q726 Stop XP
XPD G602D XP/CS
XPD G675R XP/CS
XPD R112H TTD
XPD C259Y TTD
XPD R487G TTD
XPD R592P TTD
XPD A594P TTD
XPD R658H TTD
XPD R658C TTD
XPD C663R TTD
XPD D673G TTD
XPD G713R TTD
XPD R722W TTD
XPD A725P TTD
XPD Frameshift 730 TTD
XPB T119P TTD (Weeda, 1997)
XPB
F99S
XP (Oh, 2006) XP/CS (Singh, 2015)
XPB Q739insX42 (alteration of the C-terminal 41 amino acids) XP/CS (Oh, 2006)
p8 L21P TTD (Giglia-Mari, 2004)
p8 R56 Stop TTD
p8 M1T (no start) TTD