Table 3

- RBCK1 genotype and phenotype association. Permission taken from the author as well as the journal

Family	Mutation(s)a	Affected exons	Age at onset(years)	Myopathy/Cardiomyopathy	Immunodeficiency	Autoinflammation	Prognosis
1	c.ex1_ex4del	E1-4	<1	+	++	++	Died during childhood
1	p.Q185*	E5	<1	+	++	++	Died during childhood
2	p.L41fs*7	E2	<1	+	++	++	Died during childhood
3	p.E243Gfs*114	E6	4	++	+	+	Died at age 20
3	c.ex1_ex4del	E1-4	4	++	+	+	Died at age 20
4	p.A18P	E2	Childhood	+	-	-	Died at age 19
5	c.456 + 1G > C	E5/6 (intronic)	8	+	-	-	NA
6	p.R165Rfs*111		9	++	-	-	Died at age 15
7	p.Q222*	E6	8	+	-	-	NA
7	p.E190fs	E5	8	+	-	-	NA
8	p.A241Gfs*34	E6	Childhood	+	-	-	Alive at age 29
9	p.R298Rfs*40	E7	17	+	-	+	Alive at age 32
10	p.E299Vfs*18	E7	5,6	++	-	-	Alive at age 19, 24
11	p.E299Vfs*46b	E7	14	++	+	+	Died at age 17
12	p.E299Vfs*46b	E7	12	++	+	+	Alive at age 33
13	p.E243*	E6	12,16	++	-	+	Alive at age 47, 50
13	p.N387S	E9	12,16	++	-	+	Alive at age 47, 50
14	p.R352*	E9	12	++	-	-	Alive at age 26