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Table 2 Mutations of LIG4 gene identified in patients

From: LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

PatientsZygosityExon/IntronMutationAmino acidSource of variation
P1Compound heterozygousExon2c.833G>Tp.R278LMaternal
  Exon2c.1271_1275delAAAGAp.K424Rfs*20Paternal
P2Compound heterozygousExon2c.833G>Tp.R278LPaternal
  Exon2c.1144_1145delCTp.L382Efs*5Maternal
P3Compound heterozygousExon2c.833G>Tp.R278LMaternal
  Exon2c.1277_1278delAAp.E426Gfs*19Paternal
P4Compound heterozygousExon2c.833G>Tp.R278LPaternal
  Exon2c.1271_1275delAAAGAp.K424Rfs*20Maternal
P5Compound heterozygousExon2c.833G>Tp.R278LNA
  Exon2c.1270_1274delAAAAGp.K424Rfs*20NA
P6Compound heterozygousExon2c.833G>Tp.R278LNA
  Exon2c.1271_1275delAAAGAp.K424Rfs*20NA
P7Compound heterozygousExon2c.833G>Tp.R278LPaternal
  Exon2c.1271_1275delAAAGAp.K424Rfs*20Maternal