Index	Gene	Name	Location	Pos.	Type	Nuc Change	Coverage	AA Change	Condition	Hint	web Ref.	HGVS nomenclature	mut Entry	mut Effect	TValidation	MValidation
1	AARS	AARS-E07-rs	E7	87 (903)	C	C -> T (het)	47% (3505)   [48% (1822) / 47% (1683)]	H -> H (301)			rs2070203	c.903C>T	0/0 of 0	SNP KASP		
2	EVC	EVC-E08-rs	E8	-91	C	G -> A (het)	44% (1237)   [49% (854) / 35% (383)]				rs4689312	c.940-91G>A				
3	EVC	EVC-E08-rs	E8	-71	C	G -> A (het)	49% (1419)   [48% (846) / 50% (573)]				rs4689311	c.940-71G>A				
4	EVC	EVC-E08-rs	E8	30 (969)	C	T -> C (het)	46% (1589)   [47% (827) / 46% (762)]	N -> N (323)			rs4688963	c.969T>C	0/1 of 1	SNP KASP		
5	EVC	EVC-E08-rs	E8	87 (1026)	C	G -> C (het)	47% (1613)   [47% (821) / 46% (792)]	L -> L (342)			rs4688962	c.1026G>C	0/1 of 1			
6	FERMT1	FERMT1-E02-rs	E2	-11	C	T -> G (homo)	99% (3782)   [100% (1985) / 98% (1797)]				rs2273423	c.-18-11T>G				
7	FERMT1	FERMT1-E02-rs	E2	132 (114)	C	T -> C (homo)	99% (3935)   [99% (1957) / 100% (1978)]	H -> H (38)			rs10373	c.114T>C	0/1 of 1	SNP KASP		
8	FERMT1	FERMT1-E02-rs	E2	+20	C	C -> T (homo)	100% (1975)   [0% (0) / 100% (1975)]				rs78449803	c.151+20C>T				
9	L2HGDH	L2HGDH-E02-rs	E2	19 (159)	C	C -> T (homo)	100% (5444)   [100% (2729) / 100% (2715)]	I -> I (53)			rs2297995	c.159C>T	0/1 of 1	SNP KASP		
10	LAMA3	LAMA3-E24-rs	E24	78 (2901)	C	T -> C (het)	49% (3026)   [50% (1558) / 48% (1468)]	A -> A (967)			rs9962023	c.2901T>C	1/0 of 1	SNP KASP		
11	NPHS2	NPHS2-E08-rs	E8	81 (954)	C	C -> T (homo)	99% (1448)   [100% (1445) / 20% (3)]	A -> A (318)			rs1410592	c.954C>T	1/0 of 1	SNP KASP		
12	NPHS2	NPHS2-E08-rs	E8	333	C	G -> C (homo)	99% (1389)   [0% (0) / 99% (1389)]	3' UTR			rs1410591	c.*54G>C				
13	SERPIND1	SERPIND1-E05-rs	E5	138 (1446)	C	T -> C (het)	48% (238)   [48% (238) / 0% (0)]	H -> H (482)			rs4675	c.1446T>C	0/1 of 1	SNP KASP		
14	SERPIND1	SERPIND1-E05-rs	E5	399	C	T -> C (het)	49% (228)   [0% (0) / 49% (228)]	3' UTR			rs144524371	c.*207T>C				
15	VCAN	VCAN-E08-rs	E8	1805 (5808)	C	T -> C (het)	49% (8028)   [49% (3994) / 49% (4034)]	G -> G (1936)			rs309557	c.5808T>C	0/0 of 0	SNP KASP		
16	WNK1	WNK1-E19-rs	E19	116 (3960)	C	C -> T (homo)	99% (709)   [0% (0) / 99% (709)]	N -> N (1320)			rs7300444	c.3960C>T	0/0 of 0	SNP KASP