Index Gene Name Location Pos. Type Nuc Change Coverage AA Change Condition Hint web Ref. HGVS nomenclature mut Entry mut Effect 1 WNK1 WNK1-E19-rs E19 -163 C T -> G (homo) 100% (1317) [100% (1317) / 0% (0)] rs10849576 c.3845-163T>G 2 EVC EVC-E08-rs E8 -68 C C -> T (het) 47% (1205) [47% (1205) / 0% (0)] rs56193413 c.940-68C>T 3 EVC EVC-E08-rs E8 -54 / 5bp I (Dup) TTTGG (het) 45% (1157) [45% (1157) / 0% (0)] rs397950578 c.940-59_940-55dupTTTGG 4 FERMT1 FERMT1-E02-rs E2 -11 C T -> G (het) 50% (6954) [50% (3474) / 51% (3480)] rs2273423 c.-18-11T>G 5 L2HGDH L2HGDH-E02-rs E2 19 (159) C C -> T (het) 49% (4781) [49% (2393) / 49% (2388)] I -> I (53) rs2297995 c.159C>T 0/1 of 1 SNP KASP 6 TDRD7 TDRD7-E02-rs E2 39 (33) C A -> G (het) 50% (5862) [50% (2922) / 50% (2940)] L -> L (11) rs1381532 c.33A>G 0/1 of 1 SNP KASP 7 LAMA3 LAMA3-E24-rs E24 78 (2901) C T -> C (homo) 99% (14919) [100% (7491) / 99% (7428)] A -> A (967) rs9962023 c.2901T>C 1/0 of 1 SNP KASP 8 NPHS2 NPHS2-E08-rs E8 81 (954) C C -> T (homo) 100% (2909) [100% (2909) / 0% (0)] A -> A (318) rs1410592 c.954C>T 1/0 of 1 SNP KASP 9 EVC EVC-E08-rs E8 87 (1026) C G -> C (het) 48% (2428) [48% (1216) / 48% (1212)] L -> L (342) rs4688962 c.1026G>C 0/1 of 1 10 EVC EVC-E08-rs E8 129 (1068) C A -> G (het) 52% (2663) [52% (1329) / 52% (1334)] L -> L (356) rs33929747 c.1068A>G 11 FERMT1 FERMT1-E02-rs E2 132 (114) C T -> C (het) 50% (6825) [50% (3393) / 50% (3432)] H -> H (38) rs10373 c.114T>C 0/1 of 1 SNP KASP 12 SERPIND1 SERPIND1-E05-rs E5 138 (1446) C T -> C (het) 55% (416) [55% (416) / 0% (0)] H -> H (482) rs4675 c.1446T>C 0/1 of 1 SNP KASP 13 FREM2 FREM2-E14-rs E14 183 (7398) C A -> G (homo) 100% (16025) [100% (8038) / 100% (7987)] T -> T (2466) rs9532292 c.7398A>G 1/0 of 1 SNP KASP 14 SERPIND1 SERPIND1-E05-rs E5 230 C C -> T (het) 52% (787) [53% (403) / 51% (384)] 3' UTR rs55796662 c.*38C>T 15 NPHS2 NPHS2-E08-rs E8 333 C G -> C (homo) 100% (2853) [0% (0) / 100% (2853)] 3' UTR rs1410591 c.*54G>C