Gene | cDNA change | Exon/ intron | Amino acid change | Predicted location within PKD1 domains | Family No. | Agea | Inheriting/ageb | Semen analysis |
---|---|---|---|---|---|---|---|---|
PKD1 | c.856_862delTCTGGCC | 5 | p.Ser286Serfs*2 | Ig-like repeat domain | 30 | 27 | maternal | oligoasthenozoospermia |
PKD1 | c.1385G>T | 6 | p.Arg462Met | C-type lectin domain | 77 | 30 | paternal/25 | asthenozoospermia |
PKD1 | c.2527 T > C | 11 | p.Ser843Pro | not defined | 45 | 34 | paternal/22 | oligoasthenozoospermia |
PKD1 | c.7126C > T | 17 | p.Gln2376* | REJ | ||||
PKD1 | c.2670 + 1G > A | IVS14 | – | Ig-like repeat domain | 19 | 34 | maternal | asthenozoospermia |
PKD1 | c.3613G>C | 15 | p.Asp1205His | Ig-like repeat domain | 64 | 30 | paternal/28 | asthenozoospermia |
PKD2 | c.965G>A | 4 | p.Arg322Gln | – | ||||
PKD1 | c.4447C > T | 15 | p.Gln1483* | Ig-like repeat domain | 13 | 30 | paternal/25 | oligoasthenozoospermia |
PKD1 | c.4551C > A | 15 | p.Tyr1517* | Ig-like repeat domain | 39 | 31 | maternal | asthenozoospermia |
PKD1 | c.4609G > T | 15 | p.Glu1537* | Ig-like repeat domain | 31 | 37 | paternal/29 | asthenozoospermia |
PKD1 | c.5957C>T | 15 | p.Thr1986Met | Ig-like repeat domain | 87 | 38 | paternal/23 | asthenozoospermia |
PKD1 | c.6115C > T | 15 | p.Gln2039* | Ig-like repeat domain | 55 | 36 | paternal/25 | asthenozoospermia |
PKD1 | c.6199C > T | 15 | p.Gln2067* | Ig-like repeat domain | 34 | 23 | maternal | oligoasthenozoospermia |
PKD1 | c.6658C>T | 15 | p.Arg2220Trp | REJ | 85 | 31 | paternal/22 | oligoasthenozoospermia |
PKD1 | c.6704C>T | 15 | p.Ser2235Leu | REJ | 70 | 30 | paternal/29 | asthenozoospermia |
PKD1 | c.7241C > T | 18 | p.Thr2414Met | REJ | 10 | 30 | maternal | oligoasthenozoospermia |
PKD1 | c.11269 + 1G > A | IVS39 | – | not defined | ||||
PKD1 | c.7863 + 1G > C | IVS20 | – | REJ | 36 | 42 | maternal | oligoasthenozoospermia |
PKD1 | c.7863 + 2 T > G | IVS20 | – | REJ | 11 | 33 | maternal | asthenozoospermia |
PKD1 | c.7915C > T | 21 | p.Arg2639* | REJ | 54 | 35 | paternal/32 | asthenozoospermia |
PKD1 | c.7973_7974delTG | 21 | p.Val2658Glyfs*2 | REJ | 9 | 33 | paternal/28 | asthenozoospermia |
PKD1 | c.8744A > G | 23 | p.Asn2915Ser | not defined | 28 | 34 | maternal | oligoasthenozoospermia |
PKD1 | c.12570_12571insCTCC | 46 | p.Ser4190Serfs*21 | not defined | ||||
PKD1 | c.9666_9667delGA | 28 | p.Glu3222Aspfs*30 | not defined | 32 | 29 | paternal/24 | oligoasthenozoospermia |
PKD1 | EX31-33del | 31–33 | – | not defined | 72 | 35 | de novo | oligozoospermia |
PKD1 | c.10220 + 2 T > C | IVS32 | – | not defined | 3 | 44 | NA | oligoasthenozoospermia |
PKD1 | c.12053C > T | 44 | p.Thr4018Ile | not defined | ||||
PKD1 | c.10397C > G | 34 | p.Ser3466* | not defined | 6 | 27 | paternal/22 | oligoasthenozoospermia |
PKD1 | c.10524_10525delAG | 35 | p.Glu3509Aspfs*117 | not defined | 2 | 28 | NA | oligoasthenozoospermia |
PKD1 | c.6804delG | 15 | p.Trp2268Cysfs*46 | REJ | 63 | 35 | de novo | azoospermia |
PKD1 | c.10710_10715delGGCTGT | 36 | p.3571_3572del2 | Putative TM region | 40 | 34 | maternal | asthenozoospermia |
PKD1 | c.10896_10897delGA | 37 | p.Ser3633Profs*88 | not defined | 5 | 37 | de novo | oligoasthenozoospermia |
PKD1 | c.10937Â T>G | 37 | p.Val3646Gly | not defined | 68 | 32 | paternal/26 | asthenozoospermia |
PKD1 | c.10951G>A | 37 | p.Gly3651Ser | not defined | 79 | 35 | maternal | oligoasthenozoospermia |
PKD1 | c.11240delC | 39 | p.Pro3747Hisfs*79 | not defined | 33 | 33 | paternal/25 | oligoasthenozoospermia |
PKD1 | c.11538-2A > G | IVS41 | – | not defined | 18 | 36 | paternal/30 | oligoasthenozoospermia |
PKD1 | c.11617_11637del21 | 42 | p.3873_3879del7 | not defined | 4 | 25 | NA | asthenozoospermia |
PKD1 | c.11699_11700ins10 | 42 | p.Leu3901Alafs*63 | Putative TM region | 22 | 29 | paternal/22 | asthenozoospermia |
PKD1 | c.11830_11838dup | 43 | p.Leu3944_Ala3946dup | Putative TM region | 52 | 26 | paternal/21 | oligoasthenozoospermia |
PKD1 | c.11945A>C | 43 | p.Gln3982Pro | Putative TM region | 78 | 33 | paternal/28 | asthenozoospermia |
PKD1 | c.12712C > T | 46 | p.Gln4238* | not defined | 46 | 34 | maternal | asthenozoospermia |
PKD3 | c.518G>A | 5 | p.Arg173Gln | – | 58 | 37 | paternal/27 | asthenozoospermia |
PKD1 | c.1198C > T | 5 | p.Arg400* | not defined | 17 | 29 | maternal | normal |
PKD1 | c.5600A > G | 15 | p.Asn1867Ser | Ig-like repeat domain | ||||
PKD1 | c.3931G>A | 15 | p.Ala1311Thr | Ig-like repeat domain | 80 | 27 | de novo | normal |
PKD1 | c.2039A > T | 10 | p.Tyr680Phe | not defined | 20 | 27 | paternal/27 | normal |
PKD1 | c.5637C > G | 15 | p.Tyr1879* | Ig-like repeat domain | ||||
PKD1 | c.4273C > T | 15 | p.Arg1425Cys | Ig-like repeat domain | 15 | 31 | paternal/28 | normal |
PKD1 | c.8750C > T | 23 | p.Ala2917Val | not defined | ||||
PKD1 | c.11512C > T | 41 | p.Gln3838* | Putative TM region | ||||
PKD1 | c.6813_6814delAC | 15 | p.Arg2272Glyfs*147 | REJ | 7 | 32 | NA | normal |
PKD1 | c.7144A>C | 17 | p.Ser2382Arg | REJ | 67 | 29 | maternal | normal |
PKD1 | c.10050 + 1G > A | IVS30 | – | not defined | 44 | 40 | paternal/30 | normal |
PKD1 | c.12139-2A > T | IVS44 | – | Putative TM region | 24 | 34 | maternal | normal |
PKD2 | c.2159dupA | 11 | p.Asn720Lysfs*5 | – | 42 | 29 | maternal | normal |