| | CAST, ERAP1 (A620V +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CAST, ERAP1 (P609R +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CAST, ERAP1 (P558R +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CAST, ERAP1 (T559A +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | CAST, ERAP1 (R517C +16 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ERAP1, ERAP2 (Q295L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (A816V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (L728I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (N762D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (S660L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (W451R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, LOC126807458 (E890A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | CAST-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | CAST, ERAP1 (V572fs +21 more) | Microsatellite (frameshift variant +2 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ERAP1, LOC126807458 (N880K) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (S781T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (N447Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (K491N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (V552D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (L608I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (V646L +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ERAP1, LOC126807458 (Q851K) | Single nucleotide variant (missense variant) | not specified | |
| | ERAP1, ERAP2 (R691K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (K544E +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ERAP1, ERAP2 (S781G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, LOC126807458 (G824A) | Single nucleotide variant (missense variant) | not specified | |
| | ERAP1, ERAP2 (Y590C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (V913G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (F508L +16 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (D574N +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ERAP1, ERAP2 (Q867R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (R248W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (I718T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (R865H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (L858V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (S752L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (A445D +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (E768K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (E393K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (M492I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (T933P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (L548P +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ERAP1, ERAP2 (A395V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (G584S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (M493R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, LOC126807458 (R887W) | Single nucleotide variant (missense variant) | not specified | |
| | CAST, ERAP1 (L463F +16 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | ERAP1, ERAP2 (A858T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (G477R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ERAP1, ERAP2 (Q811E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ERAP2, ERAP1 (I286M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CAST, ERAP1 (T496M +16 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ERAP1, CAST (S491N +21 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | CAST, ERAP1 (Q607H +21 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CAST, ERAP1 (A505V +16 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |