Table 1.

Mutations in the VPS13D and the prediction scores

Patient	Mutation	Polyphen2	PROVEAN	SIFT	CADD score	ExAC	HGVD
A‐II‐1	c.1215T>G, p.Ser405Arg	Benign	Neutral	Damaging	15.87	A	A
A‐II‐1	c.9421C>T, p.Arg3141*	NA	NA	NA	44	A	A
B‐II‐1 and B‐II‐2	c.3353C>T p.Thr1118Met	Probably damaging	Deleterious	Damaging	26.5	A	A
C‐II‐2	c.8833A>G p.Thr2945Ala	Benign	Neutral	Tolerated	22	0.0001071	0.0029

Abbreviations: A, absent; NA, not available.