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Table 3 CHD5 sequence variants found among one or more affected in the screening panel

From: Mutation screening of CHD5 in melanoma-prone families linked to 1p36 revealed no deleterious coding or splice site changes

Location Nucleotide change Amino acid change db SNP ID
Exon 5 c.531G>A None [P177P] Not in database
Intron 8 IVS8+41C>A None rs41279496
Intron 11 IVS11-7G>C None rs17489787
Intron 13 IVS13-17C>T None Not in database
Exon 15 c.2379C>T None [N793N] rs2273032
Exon 22 c.3336G>A None [A1112A] rs17029184
Exon 22 c.3351C>G I1117M Not in database
Intron 36 IVS36-38C>T None Not in database
Intron 36 IVS36-49C>T None Not in database
Intron 39 IVS39+34C>T None Not in database
  1. dbSNP, single nucleotide polymorphism database.
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