Table 1.

Genetic information of 16 CD patients (Study group)

Patient	cDNA variant	Protein variant	Type of mutation	ACMG classification of variant (pathogenic, likely pathogenic, VOUS)	Previously reported (yes/no)
1/1	c.[914C > A];[914C > A]	p.[Ala305Glu];[Ala305Glu]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
2/1	c.[854A > C];[854A > C]	p.[Glu285Ala];[Glu285Ala]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
3/1	c.[914C > A];[914C > A]	p.[Ala305Glu];[Ala305Glu]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
4/1	c.[859G > A];[914C > A]	p.[Ala287Thr];[Ala305Glu]	Missense/missense	Pathogenic/likely pathogenic	Yes/yes
5/1	c.[854A > C];[914C > A]	p.[Glu285Ala];[Ala305Glu]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
6/1	c.[541C > A];[426C > A]	p.[Pro181Thr];[Tyr142*]	Missense/nonsense	Likely pathogenic/pathogenic	Yes/no
7/1a	c.[634 + 1G > T];[634 + 1G > T]	p.[?];[?]	Splice site/splice site	Pathogenic/pathogenic	Yes/yes
7/2 a	c.[634 + 1G > T];[634 + 1G > T]	p.[?];[?]	splice site/splice site	pathogenic/pathogenic	Yes/yes
8/1	c.[914C > A];[362A > T]	p.[Ala305Glu];[Asn121Ile]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
9/1	c.[878_880delAAG];[?]	p.[Glu293del];[?]	In frame del/?	Likely pathogenic/?	Yes/?
10/1	c.[885dupT];[?]	p.[Ala296Cysfs*5];[?]	Frameshift/?	Pathogenic/?	No/?
11/1	c.[838C > T];[79G > T]	p.[Pro280Ser];[Gly27*]	Missense/nonsense	Pathogenic/pathogenic	Yes/yes
12/1	c.[296delT];[296delT]	p.[Leu99Tyrfs*38];[Leu99Tyrfs*38]	Monsense/nonsense	Pathogenic/pathogenic	No/no
13/1	c.[854A > C];[693C > A]	p.[Glu285Ala];[Tyr231*]	Missense/missense	Likely pathogenic/pathogenic	Yes/yes
14/1 a	c.[914C > A];[914C > A]	p.[Ala305Glu];[Ala305Glu]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes
14/2 a	c.[914C > A];[c.914C > A]	p.[Ala305Glu];[Ala305Glu]	Missense/missense	Likely pathogenic/likely pathogenic	Yes/yes

^aSiblings