Table 1

MADH4 mutations in JP cases

CaseType*Affected sequenced (n)ExonNucleotide changeResult
*Fam, familial; Unk, unknown.
JP23Fam24608delCStop 240-1
JP11Fam18989A>GE330G
JP8Unk181037delCStop 383-4
JP47Fam281054G>AG352R
JP64Fam181081C>GR361G
JP66Fam181081C>AR361S
JP21Fam691162C>TE388X
JP1Fam1791244delACAGStop 435-6
JP2Fam191244delACAGStop 435-6
JP3Fam691244delACAGStop 435-6
JP4Fam391244delACAGStop 435-6
JP69Unk110del1343-1365Stop
JP68Unk1111529G>TG510V
JP22Fam1111588delCStop 536-7