Gene | cDNA change | Amino acid change | Family No. | Semen analysis | Treatment methods |
---|---|---|---|---|---|
PKD1 | c.856_862delTCTGGCC | p.Ser286Serfs*2 | 30 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.1385G>T | p.Arg462Met | 77 | asthenozoospermia | ICSI+PGD |
PKD1 | c.2527 T > C | p.Ser843Pro | 45 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.7126C > T | p.Gln2376* | |||
PKD1 | c.2670 + 1G > A | – | 19 | asthenozoospermia | ICSI+PGDa |
PKD1 | c.4447C > T | p.Gln1483* | 13 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.4551C > A | p.Tyr1517* | 39 | asthenozoospermia | natural pregnant |
PKD1 | c.4609G > T | p.Glu1537* | 31 | asthenozoospermia | ICSI+PGD |
PKD1 | c.6199C > T | p.Gln2067* | 34 | oligoasthenozoospermia | natural pregnant |
PKD1 | c.6658C>T | p.Arg2220Trp | 85 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.6704C>T | p.Ser2235Leu | 70 | asthenozoospermia | ICSI+PGD |
PKD1 | c.7863 + 1G > C | – | 36 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.7863 + 2 T > G | – | 11 | asthenozoospermia | ICSI+PGD |
PKD1 | c.10529C > T | p.Thr3510Met | |||
PKD1 | c.7915C > T | p.Arg2639* | 54 | asthenozoospermia | ICSI+PGD |
PKD1 | c.7973_7974delTG | p.Val2658Glyfs*2 | 9 | asthenozoospermia | ICSI |
PKD1 | c.10529C > T | p.Thr3510Met | |||
PKD1 | c.8744A > G | p.Asn2915Ser | 28 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.12570_12571insCTCC | p.Ser4190Serfs*21 | |||
PKD1 | c.9666_9667delGA | p.Glu3222Aspfs*30 | 32 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.10220 + 2 T > C | – | 3 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.12053C > T | p.Thr4018Ile | |||
PKD1 | c.10524_10525delAG | p.Glu3509Aspfs*117 | 2 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.10896_10897delGA | p.Ser3633Profs*88 | 5 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.10937Â T>G | p.Val3646Gly | 68 | asthenozoospermia | ICSI+PGD |
PKD1 | c.11240delC | p.Pro3747Hisfs*79 | 33 | oligoasthenozoospermia | ICSI+PGDa |
PKD1 | c.11538-2A > G | – | 18 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.11699_11700ins10 | p.Leu3901Alafs*63 | 22 | asthenozoospermia | ICSI+PGD |
PKD1 | c.11830_11838dup | p.Leu3944_Ala3946dup | 52 | oligoasthenozoospermia | ICSI+PGD |
PKD1 | c.11945A>C | p.Gln3982Pro | 78 | asthenozoospermia | ICSI+PGD |
PKD1 | c.12712C > T | p.Gln4238* | 46 | asthenozoospermia | ICSI+PGD |
PKD1 | c.1198C > T | p.Arg400* | 17 | normal | ICSI+PGD |
PKD1 | c.5600A > G | p.Asn1867Ser | |||
PKD1 | c.3931G>A | p.Ala1311Thr | 80 | normal | ICSI |
PKD1 | c.2039A > T | p.Tyr680Phe | 20 | normal | ICSI+PGDa |
PKD1 | c.5637C > G | p.Tyr1879* | |||
PKD1 | c.4273C > T | p.Arg1425Cys | 15 | normal | ICSI+PGDa |
PKD1 | c.8750C > T | p.Ala2917Val | |||
PKD1 | c.11512C > T | p.Gln3838* | |||
PKD1 | c.6813_6814delAC | p.Arg2272Glyfs*147 | 7 | normal | ICSI+PGD |
PKD1 | c.7144A>C | p.Ser2382Arg | 67 | normal | ICSI+PGD |
PKD1 | c.10050 + 1G > A | – | 44 | normal | ICSI+PGD |
PKD1 | c.12139-2A > T | – | 24 | normal | ICSI+PGD |
PKD2 | c.2159dupA | p.Asn720Lysfs*5 | 42 | normal | ICSI+PGD |