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Table 1 CHD5 mutation screening panel from eight CMM/DN kindreds linked to 1p36

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

Family Individual Affection CMM+DN Mutation status
R 3002 Unaffected No None
R 3003 Affected Yes CDK4+
K 1001 Affected Yes CDKN2A+
K 1003 Unaffected No None
D 1001 Affected Yes CDKN2A+
D 1003 Unaffected No None
G 2005 Affected Yes CDKN2A+
G 2006 Affected Yes None
J 1002 Affected Yes CDKN2A+
J 3005 Unaffected No None
AH 3005 Affected Yes ARF+
AH 3006 Unaffected No None
S 1001 Affected Yes CDK4+
S 1003 Unaffected No None
A2 1001 Affected Yes None
A2 1019 Unaffected No None
  1. ARF, CDKN2A alternative-spliced exon 1β transcript, CDKN2A, cyclin-dependent kinase inhibitor 2A, CDK4, cyclin-dependent kinase 4, CMM, cutaneous malignant melanoma; DN, dysplastic nevi.
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