. 2022 Dec 5;4(1):100166. doi: 10.1016/j.xhgg.2022.100166

Table 1.

Distribution of DNMs in nsCL/P and NCR trios

	nsCL/P	NCR	Combined
Total DNMs	13,522	17,968	31,490
SNVs	12,335	16,438	28,773
Small insertions/deletions	1,187	1,530	2,717
Protein-coding DNMs^a	222 (1.05)^c	338 (1.19)^c	560
LoF DNMs^b	22 (0.10)^c	19 (0.07)^c	41
Nonsense DNMs	10	11	21
Frameshift DNMs	12	8	20
Missense DNMs	129 (0.61)^c	246 (0.87)^c	375
Synonymous DNMs	71 (0.34)^c	73 (0.26)^c	144

DNMs, de novo mutations; nsCL/P, non-syndromic cleft lip with/without cleft palate; NCR, non-cleft reference cohort; LoF, loss of function.

Exonic DNMs based on GENCODE Basic gene annotation version33.hg19, including non-coding parts of gene sequences (e.g., 3′/5′ UTRs).

Effect combinations from Variant Effect Predictor output were reduced to classes (see Table S4 for grouped effect names). LoF DNMs include nonsense and frameshift DNMs.

In brackets: relative frequency of this type of DNM in the respective cohort.