Table 1.

De-identified information collected from 16 individuals with KS1.

SUBJECT#	Age at Evaluation	Kmt2d Mutation (NM_003482.4)	Additional VUS
1	0 Years, 1 Months	c.9787_9791dupAAGCA
2	0 Years, 4 Months	c.3754C > T
3	0 Years, 5 Months	c.303delG
4	1 Years, 4 Months	c.10394dupG
5	2 Years, 1 Months	c.5104C > T
6	4 Years, 10 Months	c.16295G > A
7	5 Years, 8 Months	c.2533delC
8	7 Years, 2 Months	c.6086delC
9	7 Years, 4 Months	c.839 + 1delG (Aka: IVS7 + 1delG)	VUS c.5867+14C > T, n/a VUS c.6998C > T; p.P2333L
10	12 Years, 6 Months	c.2578_2579delCT
11	15 Years, 5 Months	c.15104G > C
12	17 Years, 0 Months	c.7481dupT
13	17 Years, 10 Months	c.10507 + 2 T > G (Aka: IVS37 + 2 T > G)
14	23 Years, 9 Months	c.6183 + 3 G > T (Aka: IVS29 + 3 G > T)
15	24 Years, 10 Months	c.2008_2009insT
16	30 Years, 7 Months	c.6844delC

De-identified variant information on the KS1 individuals (and the extended version found in Supplementary Table 6 ) corresponding to the data in Figure 6 / Supplementary Figure 7 . Each row represents an individual (Column 1). Figure 6 / Supplementary Figure 7 graphs are assembled with x-axis in ascending order based off the individuals’ age at the time of lymphocyte evaluation (Column 2). The location/type of the KMT2D variation (insertion [ins], deletion [del], duplication [dup], single-nucleotide variation [>]; Column 3) was further used in to generate data found in Supplementary Table 6 using VarSome to determine the variation type (missense, nonsense, frameshift, and splice variant), region (within exon/intron), and predict protein amino acid alteration required to generate the Figure 6 Lolliplot (location of the amino acid change and the type [noted by shape/color]). Known locations of variants of uncertain significance (VUS) for the individuals are indicated (Column 4).