Index Gene Name Location Pos. Type Nuc Change Coverage AA Change Condition Hint web Ref. HGVS nomenclature mut Entry mut Effect 1 COG1 COG1-E07-rs E7 501 (1782) C G -> A (homo) 99% (4612) [0% (0) / 99% (4612)] E -> E (594) rs1037256 c.1782G>A 0/0 of 0 SNP KASP 2 EVC EVC-E08-rs E8 -91 C G -> A (het) 48% (1292) [49% (1292) / 0% (0)] rs4689312 c.940-91G>A 3 EVC EVC-E08-rs E8 -71 C G -> A (het) 50% (1318) [49% (1301) / 100% (17)] rs4689311 c.940-71G>A 4 EVC EVC-E08-rs E8 30 (969) C T -> C (het) 49% (2594) [49% (1300) / 49% (1294)] 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) 49% (2582) [49% (1295) / 49% (1287)] L -> L (342) rs4688962 c.1026G>C 0/1 of 1 6 EVC EVC-E08-rs E8 129 (1068) C A -> G (het) 51% (2669) [51% (1339) / 51% (1330)] L -> L (356) rs33929747 c.1068A>G 7 FERMT1 FERMT1-E02-rs E2 -11 C T -> G (homo) 100% (19839) [100% (9951) / 99% (9888)] rs2273423 c.-18-11T>G 8 FERMT1 FERMT1-E02-rs E2 132 (114) C T -> C (homo) 100% (19731) [99% (9792) / 100% (9939)] H -> H (38) rs10373 c.114T>C 0/1 of 1 SNP KASP 9 FREM2 FREM2-E14-rs E14 183 (7398) C A -> G (het) 51% (8016) [50% (4000) / 51% (4016)] T -> T (2466) rs9532292 c.7398A>G 1/0 of 1 SNP KASP 10 L2HGDH L2HGDH-E02-rs E2 19 (159) C C -> T (het) 50% (5203) [50% (2607) / 50% (2596)] I -> I (53) rs2297995 c.159C>T 0/1 of 1 SNP KASP 11 LAMA3 LAMA3-E24-rs E24 78 (2901) C T -> C (het) 50% (6875) [51% (3453) / 50% (3422)] A -> A (967) rs9962023 c.2901T>C 1/0 of 1 SNP KASP 12 NPHS2 NPHS2-E08-rs E8 81 (954) C C -> T (homo) 100% (2973) [100% (2973) / 0% (0)] A -> A (318) rs1410592 c.954C>T 1/0 of 1 SNP KASP 13 NPHS2 NPHS2-E08-rs E8 333 C G -> C (homo) 100% (2911) [0% (0) / 100% (2911)] 3' UTR rs1410591 c.*54G>C 14 TDRD7 TDRD7-E02-rs E2 39 (33) C A -> G (het) 50% (5809) [50% (2893) / 50% (2916)] L -> L (11) rs1381532 c.33A>G 0/1 of 1 SNP KASP 15 WNK1 WNK1-E19-rs E19 116 (3960) C C -> T (homo) 100% (1155) [0% (0) / 100% (1155)] N -> N (1320) rs7300444 c.3960C>T 0/0 of 0 SNP KASP