Table 3.
Details of pathogenic mutations observed from PKD1 and PKD2
| Patient ID | Region | cdna Change | Amino Acid Change | Type | Previous description |
|---|---|---|---|---|---|
| PKD1 | |||||
| 08006 | IVS7 | c.1606+1G > A | p.Arg462fs | Splice | PD |
| 09065 | EX9A | c.1779delA | p.Glu593Aspfs*192 | Frameshift | Novel |
| 09030 | EX13 | c.3058C > T | p.Gln1020* | Nonsense | PD |
| 09041 | EX15B | c.3824delG | p.Gly1275Valfs*71 | Frameshift | Novel |
| 09052 | EX15E | c.4746G > A | p.Trp1582* | Nonsense | PD |
| 08011 | EX15F | c.5014_5015delAG | p.Arg1672Glyfs*98 | Frameshift | PD |
| 08019 | EX15F | c.5014_5015delAG | p.Arg1672Glyfs*98 | Frameshift | PD |
| 09034 | EX15F | c.5014_5015delAG | p.Arg1672Glyfs*98 | Frameshift | PD |
| 09060 | EX15H | c.5595delG | p.Leu1866Serfs*83 | Frameshift | Novel |
| 09056 | EX15H | c.5722C > T | p.Gln1908* | Nonsense | Novel |
| 08013 | EX15M | c.6424C > T | p.Gln2142* | Nonsense | Novel |
| 09024 | EX15N | c.6650_6664dup15 | p.Val2217_Leu2221dup | Duplication | Novel |
| 09069 | EX15N | c.6730_6731delAG | p.Ser2244Hisfs*17 | Frameshift | Novel |
| 08008 | EX15N | c.6781delG | p.Glu2261Argfs*53 | Frameshift | Novel |
| 09032 | EX18 | c.7288C > T | p.Arg2430* | Nonsense | PD |
| 09031 | EX23A | c.8388T > A | p.Tyr2796* | Nonsense | Novel |
| 09042 | EX23A | c.8388T > A | p.Tyr2796* | Nonsense | Novel |
| 08023 | EX23B | c.8614DelA | p.Ile2872Serfs*3 | Frameshift | Novel |
| 08002 | EX23B | c.8772_8776delCAACT | p.Asn2925Tyrfs*10 | Frameshift | Novel |
| 09066 | EX23B | c.8772_8776delCAACT | p.Asn2925Tyrfs*10 | Frameshift | Novel |
| 09037 | EX29 | c.9840_9843dupGGCC | p.Thr3282Glyfs*109 | Frameshift | Novel |
| 09035 | EX35 | c.10527_10528delGA | p.Glu3509Aspfs*117 | Frameshift | Novel |
| 08020 | EX40 | c.11354G > A | p.Trp3785* | Nonsense | Novel |
| 09063 | EX44 | c.12013C > T | p.Gln4005* | Nonsense | PD |
| 09058 | EX44 | c.12061C > T | p.Arg4021* | Nonsense | PD |
| PKD2 | |||||
| 09047 | EX4 | c.973C > T | p.Arg325* | Nonsense | PD |
| 09070 | EX4 | c.973C > T | p.Arg325* | Nonsense | PD |
| 09036 | IVS4 | c.1094+1G > C | p.Ala365fs | Splice | PD |
PD, previously described in other studies, details in the Human Gene Mutation Database (HGMD) and/or the Autosomal Dominant Polycystic Kidney Disease: Mutation Database (PKDB).