. 2019 May 6;34(4):1231–1241. doi: 10.1007/s11011-019-00422-3

Table 2.

Genetic analysis data of the 41 genetically sequenced patients with GA1

PN	SNP	N change	P change	Z	AN/82	C5DC Level (uMol/L)	Clinical Significance	Reference
P1	rs755586631	c.383G > A	p.Arg128Gln	H	2	2.39	LP	(Zschocke et al. 2000)
	rs1060218	c.1173G > T	p.Gly391=	H	8		B
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P2	rs121434369	c.1204C > T	P.Arg402Trp	H	29	1.33	LP	(Christensen et al. 2004)
P3	rs121434369	c.1204C > T	p.Arg402Trp	H	29	1.37	LP	(Christensen et al. 2004)
P4	rs121434369	c.1204C > T	p.Arg402Trp	H	29	4.48	LP	(Christensen et al. 2004)
P5	rs139851890	c.148 T > A	p.Trp50Arg	Ht	1	3.05	NA	(Mosaeilhy et al. 2017)
P5	rs139851890	c.416C > T	p.Ser139Leu	Ht	3	3.05	P/LP	(Mosaeilhy et al. 2017)
P6	rs121434369	c.1204C > T	P.Arg402Trp	H	29	2.06	LP	(Christensen et al. 2004)
P7	rs121434369	c.1204C > T	P.Arg402Trp	H	29	1.02	LP	(Christensen et al. 2004)
P7	rs121434369	c.*163 T > C	3`-UTR	H	4	1.02	NR	(Christensen et al. 2004)
P8	rs121434369	c.1204C > T	P.Arg402Trp	H	29	1.56	LP	(Christensen et al. 2004)
P9	rs139851890	c.416C > T	p.Ser139Leu	H	3	0.39	P/LP	(Goodman et al. 1998)
P10	–	c.1284C > G	p.Ile428Met	Het	1	1.32	NR	(Mosaeilhy et al. 2017)
P10	rs8012	c.*165A > G	3`-UTR	H	42	1.32	NR	(Mosaeilhy et al. 2017)
P11	rs121434369	c.1204C > T	P.Arg402Trp	H	29	2.24	LP	(Mosaeilhy et al. 2017)
P12	rs886043840	c.356C > T	p.Ser119Leu	H	2	1.42	CIP	(Korman et al. 2007)
P13	–	c.644_645insCTCG	p.Pro217Leufs*14	H	2	3.59	NA	(Moseilhy et al. 2016) (Mosaeilhy et al. 2017)
	–	c.*163 T > C	3`-UTR	H	4		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P14	rs751583656	c.770G > A	p.Arg257Gln	H	6	0.78	P	(Gupta et al. 2015)
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P 15	rs1555749239	c.192G > T	p.Glu64Asp	Ht	5	0.63	LP	(Mosaeilhy et al. 2017)
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P16	–	c.1189G > T	p.Glu397*	Ht	2	6.93	NR	(Mosaeilhy et al. 2017)
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P17	rs121434369	c.1204C > T	P.Arg402Trp	Ht	29	1.88	LP	(Christensen et al. 2004)
P17	rs8012	c.*165A > G	3`-UTR	H	42	1.88	NR	(Christensen et al. 2004)
P18	rs751583656	c.770G > A	p.Arg257Gln	H	6	2.02	P	(Gupta et al. 2015)
P19	rs751583656	c.770G > A	p.Arg257Gln	H	6	2.49	P	(Gupta et al. 2015)
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P20	–	c.158C > A	p.Pro53Gln	Het	3	11.2	NR	(Mosaeilhy et al. 2017)
P20	rs8012	c.*165A > G	3`-UTR	H	42	11.2	NR	(Mosaeilhy et al. 2017)
P21	rs113720193	c.*161G > A	3`-UTR	H	18	1.84	NR	(Mosaeilhy et al. 2017)
P21	rs8012	c.*165A > G	3`-UTR	H	42	1.84	NR	(Mosaeilhy et al. 2017)
P22	rs933624223	c.1298C > T	p.Ala433Val	H	2	1.44	VUS	(Busquets et al. 2000)
P22	rs8012	c.*165A > G	3`-UTR	H	42	1.44	NR	(Busquets et al. 2000)
P23	rs121434369	c.1204C > T	p.Arg402Trp	H	29	0.95	LP	(Christensen et al. 2004)
P24	–	c.572 T > G	p.Met191Arg	H	2	6.43	NA	Novel
	rs1060218	c.1173G > T	p.Gly391=	H	8		B
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P25	rs752334462	c.382 C > T	p.Arg128*	H	2	1.92	P	(Abdul Wahab et al. 2016)
P25	rs8012	c.*165A > G	3`-UTR	H	42	1.92	NR	(Abdul Wahab et al. 2016)
P26	rs777201305	c.482G > A	p.Arg161Gln	H	2	2.49	P/LP	(Busquets et al. 2000)
P27	rs121434369	c.1204C > T	p.Arg402Trp	H	29	1.22	LP	(Christensen et al. 2004)
P27	rs8012	c.*165A > G	3`-UTR	H	42	1.22	NR	(Christensen et al. 2004)
P28	–	c.158C > A	p.Pro53Gln	H	3	5.51	NA	(Mosaeilhy et al. 2017)
P28	rs8012	c.*165A > G	3`-UTR	H	42	5.51	NR	(Mosaeilhy et al. 2017)
P29	rs786204626	c.1205G > A	p.Arg402Gln	H	2	0.99	LP	(Christensen et al. 2004)
P29	rs8012	c.*165A > G	3`-UTR	H	42	0.99	NR	(Christensen et al. 2004)
P30	–	c.1035delG	p.Gly346Alafs*11	H	2	1.06	NA	Novel
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P31	–	c.78delG	p.Ala27Argfs34	H	2	0.65	NA	Novel
	rs1060218	c.1173G > T	p.Gly391=	H	8		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
P32	–	c.481C > T	p.Arg161Trp	H	2	2.05	NA	Novel
P32	rs8012	c.*165A > G	3`-UTR	H	42	2.05	NR	Novel
P33	rs121434369	c.1204C > T	p.Arg402Trp	H	29	2.73	LP	(Christensen et al. 2004)
P34	rs121434369	c.1204C > T	p.Arg402Trp	H	29	0.63	LP	(Christensen et al. 2004)
P35	rs121434369	c.1204C > T	p.Arg402Trp	H	29	0.66	LP	(Christensen et al. 2004)
P36	–	c.320G > T	p.Gly107Val	H	2	1.76	NA	Novel
	rs113720193	c.*161G > A	3`-UTR	H	18		NR
	rs8012	c.*165A > G	3`-UTR	H	42		NR
	rs9384	c.*288G > T	3`-UTR	H	22		NR
P37	rs121434369	c.1204C > T	p.Arg402Trp	H	29	3.17	LP	(Christensen et al. 2004)
P38	rs1555749239	c.192G > T	p.Glu64Asp	H	5	1.66	LP	(Christensen et al. 2004)
	rs113720193	c.*161G > A	3`-UTR		18		NR
	rs8012	c.*165A > G	3`-UTR		42		NR
	rs9384	c.*288G > T	3`-UTR		22		NR
P39	rs121434369	c.1204C > T	p.Arg402Trp	H	29	1.02	LP	(Christensen et al. 2004)
	rs1060218	c.1173G > T	p.Gly391=		8		NR
	rs8012	c.*165A > G	3`-UTR		42		NR
	rs9384	c.*288G > T	3`-UTR		22		NR
P40	rs1555749239	c.192G > T	p.Glu64Asp	H	5	2.17	LP	(Christensen et al. 2004)
P41	–	c.272_331del	p.Val91_Lys111delinsGlu	H	2	0.8	NA	Novel

Clinical significance was measured using the Clinvar databases. B = benign, LP = likely pathogenic, NA = not available (for novel variants), NR = not reported in Clinvar, H = homozygous, Ht = heterozygous, N = nucleotide, P = protein, AN = allele number. The ref.# used for nomenclature is NM_000159.3