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Table 1 Fifteen validated variants seen in both P1 and P2

From: Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

GeneRef_Seq mRNA transcriptcDNA variantAmino Acid ChangeVariant typeScaled CADD scorevariant frequency in gnomAD v2
REEP5NM_005669.4c.159 T > Gp.Tyr53*Nonsense310
RHBDL2NM_017821.3c.395C > Gp.Gly132AlaMissense29.80
FGFR4NM_022963.2c.1988G > Ap.Arg663GlnMissense21.94.42E-05
CNTN2NM_005076.3c.2263A > Tp.Ser755CysMissense21.23.98E-06
RANBP2NM_006267.4c.3683G > Tp.Gly1228ValMissense19.80
ZNF747NM_023931.2c.254C > Tp.Gly85GluMissense16.285.70E-06
EXOGNM_005107.3c.178G > Ap.Ala60ThrMissense16.170
BRINP3NM_199051.1c.809A > Cp.Glu270AlaMissense16.11.60E-05
ASIC1NM_020039.3c.463C > Tp.Arg155CysMissense16.050
TNFRSF1BNM_001066.2c.1337A > Gp.Glu446GlyMissense15.463.99E-06
RANBP6NM_001243202.1c.251A > Cp.Glu84AlaMissense14.873.98-E06
LSRNM_205834.3c.725C > Tp.Thr242IleMissense14.793.20E-05
MTERFD3NM_001033050.1c.607C > Tp.Ala203ThrMissense12.041.20E-05
PAX1NM_001257096.1c.1379G > Tp.Arg460LeuMissense11.575.11E-05
EGFRNM_005228.3c.1915A > Cp.ASN639HisMissense10.510
  1. CADD Combined Annotation Dependent Depletion Score, gnomAD v2 Genome Aggregation Database version 2