ID | HGVSc | Gene | Pred |
U27 | NC_000023.11:g.3024049G>C;NP_001011719.1:p.(E310D) | ARSH | 5 |
U64 | NC_000023.11:g.3024093G>C;NP_001011719.1:p.(G325A) | ARSH | 13 |
B122 | NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A) | ARSH | 9 |
U127 | NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A) | ARSH | 9 |
U28 | NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A) | ARSH | 9 |
U42 | NC_000023.11:g.31774145C>T; LRG_199p1:p.(E2453K) | DMD | 3 |
U55 | NC_000023.11:g.32342234G>A;NP_004000.1:p.(R1926C) | DMD | 6 |
U114 | NC_000023.11:g.32346044G>C;NP_000100.2:p.(Q1821E) | DMD | 1 |
U58 | NC_000023.11:g.32346044G>C;NP_000100.2:p.(Q1821E) | DMD | 1 |
B130 | NC_000023.11:g.32454661C>G (splice donor loss variant) | DMD | 1 |
U70 | NC_000023.11:g.32472199A>G;NP_000100.2:p.(Y964H) | DMD | 5 |
U111 | NC_000023.11:g.32573783C>T; NP_000100.2:p.(D548N) | DMD | 7 |
U106 | NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T) | MAGEA4 | 2 |
U36 | NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T) | MAGEA4 | 2 |
U8 | NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T) | MAGEA4 | 2 |
U94 | NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T) | MAGEA4 | 2 |
U27 | NC_000023.11:g.151924194A>T;NP_001373127.1:p.(Y177F) | MAGEA4 | 4 |
U98 | NC_000023.11:g.9786618C>A;NP_001640.1:p.(R25S) | SHROOM2 | 2 |
U33 | NC_000023.11:g.9894590G>A;NP_001640.1:p.(D228N) | SHROOM2 | 2 |
U2 | NC_000023.11:g.9937394C>T;NP_001307593.1:p.(P118L) | SHROOM2 | 5 |
U55 | NC_000023.11:g.9937537G>T;NP_001307593.1:p.(A166S) | SHROOM2 | 2 |
B79 | NC_000023.11:g.9937537G>T;NP_001307593.1:p.(A166S) | SHROOM2 | 5 |
B81 | NC_000023.11:g.3024049G>C;NP_001011719.1:p.(E310D) | SHROOM2 | 5 |
‘B’ and ‘U’ in the ID column are ‘bilateral cryptorchidism’ and ‘unilateral cryptorchidism’, respectively. The ‘Pred’ column shows the number of prediction methods supporting the variants as deleterious (see online supplemental table 4 for specific in silico prediction algorithms). Note: all genes are on the X chromosome.