cDNA change | Exon/ intron | Amino acid change | Mutation Type | Family No. | Family history | Known/Novel |
---|---|---|---|---|---|---|
PKD1 | ||||||
 c.74dupG | 1 | p.Gly25Glyfs*89 | Frameshift | 29 | Yes | Novel |
 c.106_107insT | 1 | p.Pro36Leufs*78 | Frameshift | 12 | Yes | Novel |
 c.467_487del21 | 4 | p.Ala156_Ala162del | In-frame deletion | 49 | Yes | Novel |
 c.856_862delTCTGGCC | 5 | p.Ser286Serfs*2 | Frameshift | 30 | Yes | Known |
 c.1198C > T | 5 | p.Arg400* | Nonsense | 17 | Yes | Known |
 c.1297C > T | 6 | p.Gln433* | Nonsense | 48 | NA | Known |
 c.2050A > T | 10 | p.Arg684* | Nonsense | 47 | Yes | Novel |
 c.2659delT | 11 | p.Trp887Glyfs*11 | Frameshift | 50 | Yes | Known |
 c.2670 + 1G > A | IVS14 | - | Splice | 19 | Yes | Novel |
 c.4177C > T | 15 | p.Gln1393* | Nonsense | 51 | Yes | Novel |
 c.4447C > T | 15 | p.Gln1483* | Nonsense | 13 | Yes | Known |
14 | Yes | |||||
 c.4551C > A | 15 | p.Tyr1517* | Nonsense | 39 | Yes | Novel |
 c.4609G > T | 15 | p.Glu1537* | Nonsense | 31 | Yes | Known |
 c.4846G > T | 15 | p.Glu1616* | Nonsense | 37 | Yes | Novel |
 c.4957C > T | 15 | p.Gln1653* | Nonsense | 16 | Yes | Known |
 c.5014_5015delAG | 15 | p.Arg1672Glyfs*98 | Frameshift | 53 | Yes | Known |
 c.5120G > A | 15 | p.Trp1707* | Nonsense | 26 | Yes | Known |
 c.5637C > G | 15 | p.Tyr1879* | Nonsense | 20 | Yes | Novel |
 c.6115C > T | 15 | p.Gln2039* | Nonsense | 55 | Yes | Known |
 c.6199C > T | 15 | p.Gln2067* | Nonsense | 34 | Yes | Known |
 c.6804delG | 15 | p.Trp2268Cysfs*46 | Frameshift | 63 | No | Novel |
 c.6813_6814delAC | 15 | p.Arg2272Glyfs*147 | Frameshift | 7 | Yes | Known |
 c.6945_6946insT | 16 | p.Gly2316Trpfs*104 | Frameshift | 1 | Yes | Novel |
 c.7126C > T | 17 | p.Gln2376* | Nonsense | 45 | Yes | Known |
 c.7863 + 1G > C | IVS20 | - | Splice | 36 | Yes | Novel |
 c.7863 + 2 T > G | IVS20 | - | Splice | 11 | Yes | Novel |
 c.7915C > T | 21 | p.Arg2639* | Nonsense | 54 | Yes | Known |
 c.7973_7974delTG | 21 | p.Val2658Glyfs*2 | Frameshift | 9 | Yes | Known |
 c.8338G > T | 23 | p.Glu2780* | Nonsense | 27 | Yes | Known |
 c.9666_9667delGA | 28 | p.Glu3222Aspfs*30 | Frameshift | 32 | Yes | Novel |
 c.10050 + 1G > A | IVS30 | - | Splice | 44 | Yes | Known |
 c.10220 + 2 T > C | IVS32 | - | Splice | 3 | Yes | Known |
 c.10397C > G | 34 | p.Ser3466* | Nonsense | 6 | Yes | Novel |
 c.10524_10525delAG | 35 | p.Glu3509Aspfs*117 | Frameshift | 2 | NA | Novel |
 c.10710_10715delGGCTGT | 36 | p.3571_3572del2 | In-frame deletion | 40 | Yes | Known |
 c.10724G > A | 36 | p.Try3575* | Nonsense | 38 | NA | Novel |
 c.10896_10897delGA | 37 | p.Ser3633Profs*88 | Frameshift | 5 | No | Novel |
 c.11240delC | 39 | p.Pro3747Hisfs*79 | Frameshift | 33 | Yes | Novel |
 c.11269 + 1G > A | IVS39 | - | Splice | 10 | Yes | Novel |
 c.11311_11312insGTGCT | 40 | p.Ser3771Cysfs*57 | Frameshift | 41 | NA | Novel |
 c.11512C > T | 41 | p.Gln3838* | Nonsense | 15 | Yes | Known |
 c.11538-2A > G | IVS41 | - | Splice | 18 | Yes | Known |
 c.11617_11637del21 | 42 | p.3873_3879del7 | In-frame deletion | 4 | Yes | Novel |
 c.11699_11700ins10 | 42 | p.Leu3901Alafs*63 | Frameshift | 22 | Yes | Novel |
 c.11830_11838dup | 43 | p.Leu3944_Ala3946dup | In-frame duplication | 52 | Yes | Novel |
 c.12101delT | 44 | p.Val4034Glyfs*5 | Frameshift | 25 | No | Novel |
 c.12139-2A > T | IVS44 | - | Splice | 24 | Yes | Novel |
 c.12391G > T | 45 | p.Glu4131* | Nonsense | 43 | Yes | Known |
 c.12570_12571insCTCC | 46 | p.Ser4190Serfs*21 | Frameshift | 28 | Yes | Novel |
 c.12682C > T | 46 | p.Arg4228* | Nonsense | 21 | Yes | Known |
23 | Yes | |||||
 c.12712C > T | 46 | p.Gln4238* | Nonsense | 46 | Yes | Known |
 EX31-33del | 31–33 | - | Large deletion | 72 | No | Novel |
PKD2 | ||||||
 c.973C > T | 4 | p.Arg325* | Nonsense | 8 | Yes | Known |
 c.1094 + 3_1094 + 6delAAGT | IVS4 | - | Splice | 35 | Yes | Known |
 c.2159dupA | 11 | p.Asn720Lysfs*5 | Frameshift | 42 | Yes | Known |