Table 2.

List of all captured variants in our cohort with genomic localisation, allele frequencies and risk prediction provided by program MutTaster

Gene	Localisation	Protein change	MutTaster	Provean	HET	HOM	Data set frequency	Population frequency	P (Fisher)	Risk dbSNP
					n=40
Amyloidogenic variant
TTR	g[18:31593070_G>A]	Glu82Lys	D	D	1	0	1.3	NA	NA	NA
Non-amyloidogenic variants candidate for functional tests
PRNP	g[20:4699380_G>A]	Gly54Ser	D	N	1	0	1.3	NA	NA	NA
PRNP	g[del(20:4699443_4699466_CAGCCCCATGGTGGTGGCTGGGGA)]	75:1_QPHGGGWG>del	NA	NA	1	0	1.3	NA	NA	NA
B2M	g[15:44711599_T>C]	Leu18Pro	D	D	1	0	1.3	NA	NA	NA
Non-amyloidogenic variants common in CEU population
PRNP	g[20:4699605_A>G]	Met129Val	P	N	12	5	27.5	32.8	0.4366	rs1799990
FGA	g[4:154586438_T>C]	Thr331Ala	P	N	12	2	20.0	19.1	0.9468	rs6050
CST3	g[20:23637790_C>T]	Ala25Thr	P	N	16	2	25.0	22.2	0.8047	rs1064039
TTR	g[18:31592902_G>A]	Gly26Ser	P	N	4	0	5.0	9.1	0.5944	rs1800458
GSN	g[9:121326630_C>G]	Thr563Ser	D	N	2	0	2.5	3	1.000	rs77681311
GSN	g[9:121327414_C>T]	Thr565Met	P	N	2	0	2.5	3	1.000	rs76463933
GSN	g[9:121302946_G>A]	Ala78Thr	P	D	2	0	2.5	0.5	0.1987	rs2230287
GSN	g[9:121286183_T>C]	Trp14Arg	P	NA	2	0	2.5	0.5	0.1987	rs12343736
APP	g[21:25911855_C>T]	Glu599Lys	D	N	1	0	1.3	0	0.2878	rs140304729

MutTaster (D, disease-causing SNV; P, polymorphic SNV).

Provean (D, deleterious SNV; N, neutral).

CEU, Central European; HET, heterozygous; HOM, homozygous; NA, not available; SNV, single nucleotide variant.