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Table 1 De novo mutations in Hirschsprung disease probands

From: Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Trio Phenotype Gene De novo mutation Type MAF (dbSNP137/ESP6500/ExAC)a
1 L, F RET 3splicing9 + 1 Splicing N/N/N
   RBM25 c.474C > T:p.L158L Synonymous N/N/N
2 L, F RET c.2511_2519delCCCTGGACC:p.S837fs Frameshift N/N/N
   COL6A3 c.3327C > T:p.H1109H Synonymous 4.2E-4 (rs114845780)/N/1.2E-4
3 L, F RET c.1818_1819insGGCAC:p.Y606fs Frameshift N/N/N
4 L, F DAB2IP c.2339C > T:p.T780Mb Missense N/N/2.8E-3
   ISG20L2 c.961G > A:p.G321R Missense N/N/N
   MED26 c.675C > T:p.A225A Synonymous N/N/N
   NCLN c.496C > T:p.Q166Xb Nonsense N/N/N
   NUP98 c.5207A > G:p.N1736S Missense N/N/N
   VEZF1 c.584C > T:p.S195F Missense N/N/N
   ZNF57 c.570C > T:p.D190D Synonymous N/N/N
5 L, F RET c.1761delG :p.G588fs Frameshift N/N/N
   SCUBE3 c.1493A > T:p.N498I Missense N/N/N
6 L, M AFF3 c.1975G > C:p.V659L Missense N/N/N
   PLEKHG5 c.2628G > T:p.T876T Synonymous N/N/9.1E-6
7 L, M KDM4A c.26A > G:p.N9S Missense N/N/N
8 L, M MAP4 c.3351C > T:p.G1117G Synonymous N/N/9.2E-6
9 L, F RET c.1858 T > C:p.C620R Missense 0 (rs77316810)/N/N
10 TCA, M CKAP2L c.555_556delAA:p.E186fs Frameshift N/2E-5/2.5E-5
11 L, F RET c.409 T > G:p.C137G Missense N/N/N
   HMCN1 c.10366G > A:p.A3456T Missense N/N/N
   TUBG1 c.699 T > C:p.S233S Synonymous N/N/8.2E-6
12 L, F CCR2 c.848 T > A:p.L283Q Missense N/N/N
   DENND3 c.1921delT:p.K640fs Frameshift N/N/N
13 L, F RET c.1710C > A:p.C570X Nonsense N/N/N
14 L, F RET c.526_528delGCA:p.R175del Non-frameshift N/N/N
   TBATA c.157C > T:p.R53C Missense N/N/4.1E-5
  1. Genes in bold indicate patients carrying de novo RET mutations. Underlines genes are genes giving a HSCR-like phenotype in zebrafish.
  2. F female, L long-segment HSCR, M male, TCA total colonic aganglionsis
  3. aMinor allele frequency (MAF) in dbSNP137, ESP database or ExAC database, with “N” standing for no data available.
  4. bMosaic mutation