Table 2

The pathogenic variants in novel candidate genes

IDHGVScGenePred
U27NC_000023.11:g.3024049G>C;NP_001011719.1:p.(E310D)ARSH5
U64NC_000023.11:g.3024093G>C;NP_001011719.1:p.(G325A)ARSH13
B122NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A)ARSH9
U127NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A)ARSH9
U28NC_000023.11:g.3033050C>G;NP_001011719.1:p.(P452A)ARSH9
U42NC_000023.11:g.31774145C>T; LRG_199p1:p.(E2453K)DMD3
U55NC_000023.11:g.32342234G>A;NP_004000.1:p.(R1926C)DMD6
U114NC_000023.11:g.32346044G>C;NP_000100.2:p.(Q1821E)DMD1
U58NC_000023.11:g.32346044G>C;NP_000100.2:p.(Q1821E)DMD1
B130NC_000023.11:g.32454661C>G (splice donor loss variant)DMD1
U70NC_000023.11:g.32472199A>G;NP_000100.2:p.(Y964H)DMD5
U111NC_000023.11:g.32573783C>T; NP_000100.2:p.(D548N)DMD7
U106NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T)MAGEA42
U36NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T)MAGEA42
U8NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T)MAGEA42
U94NC_000023.11:g.151924064G>A;NP_001011550.1:p.(A134T)MAGEA42
U27NC_000023.11:g.151924194A>T;NP_001373127.1:p.(Y177F)MAGEA44
U98NC_000023.11:g.9786618C>A;NP_001640.1:p.(R25S)SHROOM22
U33NC_000023.11:g.9894590G>A;NP_001640.1:p.(D228N)SHROOM22
U2NC_000023.11:g.9937394C>T;NP_001307593.1:p.(P118L)SHROOM25
U55NC_000023.11:g.9937537G>T;NP_001307593.1:p.(A166S)SHROOM22
B79NC_000023.11:g.9937537G>T;NP_001307593.1:p.(A166S)SHROOM25
B81NC_000023.11:g.3024049G>C;NP_001011719.1:p.(E310D)SHROOM25
  • ‘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.