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. 2008 Oct 2;36(19):6269–6283. doi: 10.1093/nar/gkn636

Table 1.

Allelic distribution of CAN genes placed in ρ module according to XP mutation database (Panel A). Sample representativeness compared to a second databases (Panel B)

Panel A Number of Genotypes (%)a
Total genotypes (Panel B) Entriesb
CAN gene null/non-null non-null/non-null null/null XP database HGMD
ERCC2 20 (43.5) 26 (56.5) 0 (0.0) 46 76c 48
ERCC3 3 (60.0) 2 (40.0) 0 (0.0) 5 8 11
ERCC4 0 (0.0) 7 (100.0) 0 (0.0) 7 18d 17
ERCC5 0 (0.0) 5 (100.0) 0 (0.0) 5 10 12
XPA 6 (6.0) 94 (94.0) 0 (0.0) 100 128e 25
XPC 0 (0.0) 13 (100.0) 0 (0.0) 13 28f 42
DDB2 0 (0.0) 5 (100.0) 0 (0.0) 5 8g 8
Σ 29 (16.0) 153 (84.1) 0 (0.0) 182 276 163

aData obtained from XP mutations database (http://www.xpmutations.org) is compiled according to the absence (null) or presence (non-null) of CAN gene alleles. Null/non-null genotypes are only heterozygous, while non-null/non-null genotypes include heterozygous and homozygous.

bThe number of allelic records present in XP mutations database is compared to a second human inherited mutation database [Human gene Mutation Database — HGMD (49)] in order to attest the sample representativeness.

cOne allele is duplicated in the database (the XP1BR entry).

dThree alleles have no mutation data (XP80TO, XP81TO and XP89TO entries).

eOne allele had no zygosity information (XP10OS entry).

fFour alleles have no zygosity information (XP6BR, XP4BR, XP3BE and XP22BE entries). Polymorphisms are not considered in the analyses.

gOne allele is duplicated (XP25PV entry).