Table 3. Update of SLC25A13 mutations in patients with citrin deficiency.

No.	Locations	Mutations	Types	DNA/cDNA changes	Amino acids	References
1	Ex1	c.2T>C	Pathogenic SNP	g./c.2T>C	p.Met1_Phe34del	14,34
2	Ex1	g.Ex1-1G>A	Splice-site	g./c.15G>A	Unclear	22
3	IVS1	IVS1-2A>T	Splice-site	g.16-2A>T	Unclear	This report
4	Ex2	E16X	Nonsense	g./c.46G>T	p.E16X	22
5	Ex3	Y24X	Nonsense	g./c.72T>A	p.Y24X	This report
6	Ex3	p.A25E	Missense	g./c.74C>A	p.A25E	21
7	Ex3	p.R43X	Nonsense	g./c.127C>T	p.R43X	21
8	Ex3	c.172_173delGT	Deletion	g./c.172_173delGT	p.V58Gfs81X	21
9	IVS2_IVS3	g./c.70-862_212+3527del4532	Deletion	c.70_212del	Unclear	20,35
10	Ex2_3	Unknown	Aberrant transcript	r.16_212dup (Ex2_3dup)	Unclear	14
11	Ex4	L85P	Missense	g./c.254T>C	p.L85P	23
12	Ex4	c.265delG	Deletion	g./c.265delG	p.D89fs94X	This report
13	IVS4	IVS4ins6kb	Insertion	r.329_468del(Ex5 del)	p.E110fs127X	This report
14	Ex5	G139R	Missense	g./c.415G>A	p.G139R	This report
15	Ex5	Y148C	Missense	g./c.443A>G	p.Y148C	This report
16	Ex5	E150X	Nonsense	g./c.448G>T	p.E150X	This report
17	Ex6	Q159X	Nonsense	g./c.475C>T	p.Q159X	31
18	Ex6	G176V	Missense	g./c.527G>T	p.G176V	This report
19	Ex6	R184X	Nonsense	g./(c.)550C>T	p.R184X	44
20	IVS6	g.IVS6+1G>C	Splice-site	c.IVS6(1789 bp)ins	p.A206fs212X	44
21	IVS6	IVS6+1G>A	Splice-site	g./c.615+1G>A	Unclear	23
22	IVS6	g.IVS6+5G>A	Splice-site	c. not detectable	Unclear	44
23	Ex7	S225X	Nonsense	g./c.674C>A	p.S225X	1
24	Ex7	Ex7-1G>A	Splice-site	g./c.754G>A/r.616_848del	p.A206fs213X	33
25	IVS7	IVS7-2A>G	Splice-site	g./c.755-2A>G	Unclear	28
26	Ex8	Q259X	Nonsense	g./c.775C>T	p.Q259X	32
27	Ex8	G283X	Nonsense	g./c.847G>T	p.G283X	13
28	IVS8	g.IVS8+3A>C	Splice-site	g./c.848+3A>C	Unclear	35
29	Ex9	851del4	Deletion	g./c.851_854delGTAT	p.R284fs286X	1
30	Ex9	Ex9-1G>A	Splice-site	c.933G>A	Unclear	16
31	Ex10	R319X	Nonsense	g./c.955C>T	p.R319X	28
32	Ex10	G333D	Missense	g./c.998G>A	p.G333D	17
33	Ex11	D350N	Missense	g./c.1048G>A	p.D350N	This report
34	Ex11	R355G	Missense	g./c.1063C>G	p.R355G	This report
35	Ex11	p.R355X	Nonsense	g./c.1063C>T	p.R355X	21
36	Ex11	R360X	Nonsense	g./c.1078C>T	p.R360X	22
37	Ex11	1092_1095delT	Deletion	g./c.1092_1095delT	p.F365fs407X	23
38	Ex11	1146delA	Deletion	g./c.1146delA	p.R383fs407X	22
39	Ex11	G386V	Missense	g./c.1157G>T	p.G386V	30
40	Ex11	G393S	Missense	g./(c.)1177G>A	p.G393S	27
41	IVS11	g.IVS11+1G>A	Splice-site	c.1019_1177del	p.340_392del	1
42	Ex12	Q397X	Nonsense	g./c.1189C>T	p.Q397X	26
43	Ex12	1192-1193delT	Deletion	g./c.1192_1193delT	p.L398fs407X	30
44	Ex12	c.1215G>T	Missense	g./c.1215G>T	p.K405N	This report
45	Ex13	c.1231G>A	Missense	g./c.1231G>A	p.V411M	13
46	Ex13	G436E	Missense	g./c.1307-1308delGCinsAA	p.G436E	38
47	Ex13	c.1311C>T	Splice-site?	g./c.1311C>T	p.C437C	32
48	IVS13	g.IVS13+1G>A	Splice-site	c.1231_1311del	p.411_437del	1
49	IVS13	g.IVS13+2T>G	Splice-site	c. not detectable	Unclear	22
50	Ex14	T446P	Missense	g./c.1336A>C	p.T446P	22
51	Ex14	K453R	Missense	g./c.1358A>G	p.K453R	30
52	Ex14	R455L	Missense	g./c.1364G>T	p.R455L	This report
53	Ex14	1374_1375delG	Deletion	g./c.1374 or 1375delG	p.A459fs507X	22
54	Ex14	R467X	Nonsense	g./c.1399C>T	p.R467X	30
55	IVS14_15	g.Ex15dup	Duplication	c.1453_1591dup	p.M532fs560X	19
56	Ex15	C489R	Missense	g./c.T1465C	p.C489R	37
57	Ex15	D493G	Missense	g./c.1478A>G	p.D493G	43
58	Ex15	Y500D	Missense	g./c.1498T>G	p.Y500D	This report
59	Ex15	P502L	Neutral	g./c.1505C>T	p.P502L	32,34
60	IVS15	g.IVS15+1G>T	Splice-site	c.1453_1591del	p.G485fs491X	22
61	Ex16	Q549X	Nonsense	g./c.1645C>T	p.Q549X	This report
62	Ex16	W579X	Nonsense	g./c.1736G>A	p.W579X	This report
63	Ex16	G531D	Missense	g.1592G>A	p.G531D	22
64	Ex16	c.1610_1612delTAGinsAT	Indel	g./c.1610_1612delTAGinsAT	p.L537fs538X	36
65	Ex16	A541D	Missense	g./c.1622C>A	p.A541D	28
66	Ex16	p.T546R	Missense	g./c.1637C>G	p.T546R	21
67	Ex16	T546M	Missense	g./c.1637C>T	p.T546M	22
68	Ex16	1638ins23	Duplication	g./c.1638_1660dup	p.A554fs570X	1
69	Ex16	R553Q	Missense	g./c.1658G>A	p.R553Q	31
70	Ex16_IVS17	g.Ex16+74_IVS17-32del516	Deletion	c. aberrant RNA	p.Q556fs565X	40
71	IVS16	g.IVS16ins3kb	Insertion	c. aberrant RNA	p.A584fs585X	22
72	Ex17	R588Q	Missense	g./c.1763G>A	p.R588Q	22
73	Ex17	L598R	Missense	g./c.1793T>G	p.L598R	25
74	Ex17	R585H	Missense	g./c.1754G>A	p.R585H	23
75	Ex17	Q592P	Missense	g./c.1775A>C	p.Q592P	This report
76	Ex17	1800ins1	Insertion	g./c.1799–1800insA	p.Y600X	39
77	Ex17	R605Q	Neutral	c.1814G>A	p.R605Q	34
78	Ex17	R605X	Nonsense	g./c.1813C>T	p.R605X	39
79	Ex17	E601X	Nonsense	g./(c.)1801G>T	p.E601X	8
80	Ex17	E601K	Missense	g./(c.)1801G>A	p.E601K	8
81	Ex18	P632L	Neutral	g./c.1895C>T	p.P632L	22,34