Table 2.

Genetic analysis results

Case	Genomic position	Base alteration	Amino acid change	Exon	Domain	Pathogenic variant type	Parental origin	ACMG scoring	Score	Reported/Not reported
P1	Chr9:130438188	c.1216 C > T	p.R406C	14	3b	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[24, 26, 27]
P2	Chr9:130434297	c.664-1G>-	-	9	3a	Splice	De novo	PVS1 + PS2 + PM2	P	No
P3	Chr9:130430439	c.875G > A	p.R292H	10	3a	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[28, 29]
P4	Chr9:130438188	c.1216 C > T	p.R406C	14	3b	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[24, 26, 27]
P5	Chr9:130430438	c.874 C > T	p.R292C	10	3a	Missense	Maternal	PS1 + PS4 + PM2 + PP1	P	[2]
P6	Chr9:130430438	c.874 C > T	p.R292C	10	3a	Missense	Maternal	PS1 + PS4 + PM2 + PP1	P	[2]
P7	Chr9:130440807	c.1457T > G	p.M486R	16	2	Missense	De novo	PS2 + PM2	LP	No
P8	Chr9:130438188	c.1216 C > T	p.R406C	14	3b	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[24, 26, 27]
P9	Chr9:130428514	c.733 C > A	p.H245N	8	2	Missense	De novo	PS2 + PM2 + PP2	P	No
P10	Chr9:130434396	c.1029 + 1G > T	-	12	3a	Splice	De novo	PS1 + PS2 + PM2	P	[30]
P11	Chr9:130442466	c.1493_1505del	p.H498Pfs*44	17	2	Frameshift	De novo	PVS1 + PS2 + PM2	LP	No
P12	Chr9:130440789	c.1439 C > T	p.P480L	17	2	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[4, 17–20]
P13	Chr9:130438188	c.1216 C > T	p.R406C	14	3b	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	[24, 26, 27]
P14	Chr9:130430411	c.847G > A	p.E283K	10	3a	Missense	Maternal	PS1 + PM2 + PP1	P	[19]
P15	Chr9:130416028	C.122T > G	p.L41R	3	1	Missense	De novo	PS1 + PS2 + PS4 + PM2	P	No
P16	Chr9:130438197	c.1227_1229del	p.L410del	14	3b	Non frameshift	De novo	PS2 + PM2 + PM4	LP	No
P17	Chr9:130422330	c.268G > C	p.D90H	5	1	Missense	De novo	PS2 + PS4 + PM2	P	No
P18	Chr9:130416030	c.128_130del	p.S43del	3	1	Non frameshift	De novo	PS2 + PM2	LP	[22]
P19	Chr9:130428484	c.703 C > T	p.R235*	10	2	Nonsense	De novo	PVS1 + PS1 + PM2	P	[25]

Abbreviations: P; pathogenic, LP: likely pathogenic.