Table 1 De novo mutations in Hirschsprung disease probands
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 |