Sample ID | Physical location | Nucleotide variation | Residue change | Amino acid change | Type of variation | Phenotype |
---|---|---|---|---|---|---|
94 | Chr3:16639671 | c.165G>C | GAG to GAC | p.E55D | Nonsynonymous SNV | Oligoasthenospermia |
119 | Chr3:16639671 | c.165G>C | GAG to GAC | p.E55D | Nonsynonymous SNV | Azoospermia |
109 | Chr3:16639651 | c.185G>C | AGA to ACA | p.R62T | Nonsynonymous SNV | Oligoasthenospermia |
73 | Chr3:16639643 Chr3:16639639 | c.193T>A c.197T>A | TCA to ACA GTG to GAG | p.S65T p.V66E | Nonsynonymous SNV Nonsynonymous SNV | Azoospermia |
128 | Chr3: 16639618 _16639616 | c.218_220insG | GAT to TGA | p.D74X | Nonsense mutation | Necrospermia |
95 | Chr3:16639605 | c.231T>A | GGT to GGA | p.G77G | Synonymous SNV | Idiopathic |
103 | Chr3:16639605 | c.231T>G | GGT to GGG | p.G77G | Synonymous SNV | Idiopathic |