| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51912369A>C | CA364439141 | PKHD1 | c.6329T>G (p.Leu2110Trp) c.5687T>G (p.Leu1896Trp) c.5618T>G (p.Leu1873Trp) c.404T>G (p.Leu135Trp) c.6254T>G (p.Leu2085Trp) c.6065T>G (p.Leu2022Trp) c.4469T>G (p.Leu1490Trp) n.6605T>G | gnomAD v4 |
| 6 | g.51912369A>G | CA364439143 | PKHD1 | c.6329T>C (p.Leu2110Ser) c.5687T>C (p.Leu1896Ser) c.5618T>C (p.Leu1873Ser) c.404T>C (p.Leu135Ser) c.6254T>C (p.Leu2085Ser) c.6065T>C (p.Leu2022Ser) c.4469T>C (p.Leu1490Ser) n.6605T>C | |
| 6 | g.51912369A>T | CA364439145 | PKHD1 | c.6329T>A (p.Leu2110Ter) c.5687T>A (p.Leu1896Ter) c.5618T>A (p.Leu1873Ter) c.404T>A (p.Leu135Ter) c.6254T>A (p.Leu2085Ter) c.6065T>A (p.Leu2022Ter) c.4469T>A (p.Leu1490Ter) n.6605T>A | |
| 6 | g.51912371dup | CA645561174 | PKHD1 | c.6329dup (p.Leu2110PhefsTer?) c.5687dup (p.Leu1896PhefsTer?) c.5618dup (p.Leu1873PhefsTer?) c.404dup (p.Leu135PhefsTer?) c.6254dup (p.Leu2085PhefsTer?) c.6065dup (p.Leu2022PhefsTer?) c.4469dup (p.Leu1490PhefsTer?) n.6605dup | COSMIC COSMIC |
| 6 | g.51912370A>C | CA364439146 | PKHD1 | c.6328T>G (p.Leu2110Val) c.5686T>G (p.Leu1896Val) c.5617T>G (p.Leu1873Val) c.403T>G (p.Leu135Val) c.6253T>G (p.Leu2085Val) c.6064T>G (p.Leu2022Val) c.4468T>G (p.Leu1490Val) n.6604T>G | |
| 6 | g.51912370A>G | CA450415913 | PKHD1 | c.6328T>C (p.Leu2110=) c.5686T>C (p.Leu1896=) c.5617T>C (p.Leu1873=) c.403T>C (p.Leu135=) c.6253T>C (p.Leu2085=) c.6064T>C (p.Leu2022=) c.4468T>C (p.Leu1490=) n.6604T>C | |
| 6 | g.51912370A>T | CA364439150 | PKHD1 | c.6328T>A (p.Leu2110Met) c.5686T>A (p.Leu1896Met) c.5617T>A (p.Leu1873Met) c.403T>A (p.Leu135Met) c.6253T>A (p.Leu2085Met) c.6064T>A (p.Leu2022Met) c.4468T>A (p.Leu1490Met) n.6604T>A | |
| 6 | g.51912371A>C | CA450415914 | PKHD1 | c.6327T>G (p.Pro2109=) c.5685T>G (p.Pro1895=) c.5616T>G (p.Pro1872=) c.402T>G (p.Pro134=) c.6252T>G (p.Pro2084=) c.6063T>G (p.Pro2021=) c.4467T>G (p.Pro1489=) n.6603T>G | gnomAD v4 COSMIC COSMIC |
| 6 | g.51912371A>G | CA450415915 | PKHD1 | c.6327T>C (p.Pro2109=) c.5685T>C (p.Pro1895=) c.5616T>C (p.Pro1872=) c.402T>C (p.Pro134=) c.6252T>C (p.Pro2084=) c.6063T>C (p.Pro2021=) c.4467T>C (p.Pro1489=) n.6603T>C | |
| 6 | g.51912371A>T | CA450415916 | PKHD1 | c.6327T>A (p.Pro2109=) c.5685T>A (p.Pro1895=) c.5616T>A (p.Pro1872=) c.402T>A (p.Pro134=) c.6252T>A (p.Pro2084=) c.6063T>A (p.Pro2021=) c.4467T>A (p.Pro1489=) n.6603T>A | |
| 6 | g.51912372G>A | CA364439153 | PKHD1 | c.6326C>T (p.Pro2109Leu) c.5684C>T (p.Pro1895Leu) c.5615C>T (p.Pro1872Leu) c.401C>T (p.Pro134Leu) c.6251C>T (p.Pro2084Leu) c.6062C>T (p.Pro2021Leu) c.4466C>T (p.Pro1489Leu) n.6602C>T | dbSNP |
| 6 | g.51912372G>C | CA364439155 | PKHD1 | c.6326C>G (p.Pro2109Arg) c.5684C>G (p.Pro1895Arg) c.5615C>G (p.Pro1872Arg) c.401C>G (p.Pro134Arg) c.6251C>G (p.Pro2084Arg) c.6062C>G (p.Pro2021Arg) c.4466C>G (p.Pro1489Arg) n.6602C>G | |
| 6 | g.51912372G= | CA1628583285 | PKHD1 | c.6326C= (p.Pro2109=) c.5684C= (p.Pro1895=) c.5615C= (p.Pro1872=) c.401C= (p.Pro134=) c.6251C= (p.Pro2084=) c.6062C= (p.Pro2021=) c.4466C= (p.Pro1489=) n.6602C= | |
| 6 | g.51912372G>T | CA364439157 | PKHD1 | c.6326C>A (p.Pro2109His) c.5684C>A (p.Pro1895His) c.5615C>A (p.Pro1872His) c.401C>A (p.Pro134His) c.6251C>A (p.Pro2084His) c.6062C>A (p.Pro2021His) c.4466C>A (p.Pro1489His) n.6602C>A | |
| 6 | g.51912373G>A | CA364439162 | PKHD1 | c.6325C>T (p.Pro2109Ser) c.5683C>T (p.Pro1895Ser) c.5614C>T (p.Pro1872Ser) c.400C>T (p.Pro134Ser) c.6250C>T (p.Pro2084Ser) c.6061C>T (p.Pro2021Ser) c.4465C>T (p.Pro1489Ser) n.6601C>T | |
| 6 | g.51912373G>C | CA364439165 | PKHD1 | c.6325C>G (p.Pro2109Ala) c.5683C>G (p.Pro1895Ala) c.5614C>G (p.Pro1872Ala) c.400C>G (p.Pro134Ala) c.6250C>G (p.Pro2084Ala) c.6061C>G (p.Pro2021Ala) c.4465C>G (p.Pro1489Ala) n.6601C>G | gnomAD v4 |
| 6 | g.51912373G>T | CA364439160 | PKHD1 | c.6325C>A (p.Pro2109Thr) c.5683C>A (p.Pro1895Thr) c.5614C>A (p.Pro1872Thr) c.400C>A (p.Pro134Thr) c.6250C>A (p.Pro2084Thr) c.6061C>A (p.Pro2021Thr) c.4465C>A (p.Pro1489Thr) n.6601C>A | gnomAD v4 COSMIC COSMIC |
| 6 | g.51912374T>A | CA450415917 | PKHD1 | c.6324A>T (p.Ser2108=) c.5682A>T (p.Ser1894=) c.5613A>T (p.Ser1871=) c.399A>T (p.Ser133=) c.6249A>T (p.Ser2083=) c.6060A>T (p.Ser2020=) c.4464A>T (p.Ser1488=) n.6600A>T | |
| 6 | g.51912374T>C | CA450415918 | PKHD1 | c.6324A>G (p.Ser2108=) c.5682A>G (p.Ser1894=) c.5613A>G (p.Ser1871=) c.399A>G (p.Ser133=) c.6249A>G (p.Ser2083=) c.6060A>G (p.Ser2020=) c.4464A>G (p.Ser1488=) n.6600A>G | |
| 6 | g.51912374T>G | CA450415919 | PKHD1 | c.6324A>C (p.Ser2108=) c.5682A>C (p.Ser1894=) c.5613A>C (p.Ser1871=) c.399A>C (p.Ser133=) c.6249A>C (p.Ser2083=) c.6060A>C (p.Ser2020=) c.4464A>C (p.Ser1488=) n.6600A>C | |
| 6 | g.51912375G>A | CA364439171 | PKHD1 | c.6323C>T (p.Ser2108Leu) c.5681C>T (p.Ser1894Leu) c.5612C>T (p.Ser1871Leu) c.398C>T (p.Ser133Leu) c.6248C>T (p.Ser2083Leu) c.6059C>T (p.Ser2020Leu) c.4463C>T (p.Ser1488Leu) n.6599C>T | dbSNP |
| 6 | g.51912375G>C | CA364439167 | PKHD1 | c.6323C>G (p.Ser2108Ter) c.5681C>G (p.Ser1894Ter) c.5612C>G (p.Ser1871Ter) c.398C>G (p.Ser133Ter) c.6248C>G (p.Ser2083Ter) c.6059C>G (p.Ser2020Ter) c.4463C>G (p.Ser1488Ter) n.6599C>G | |
| 6 | g.51912375G= | CA1628583287 | PKHD1 | c.6323C= (p.Ser2108=) c.5681C= (p.Ser1894=) c.5612C= (p.Ser1871=) c.398C= (p.Ser133=) c.6248C= (p.Ser2083=) c.6059C= (p.Ser2020=) c.4463C= (p.Ser1488=) n.6599C= | |
| 6 | g.51912375G>T | CA364439169 | PKHD1 | c.6323C>A (p.Ser2108Ter) c.5681C>A (p.Ser1894Ter) c.5612C>A (p.Ser1871Ter) c.398C>A (p.Ser133Ter) c.6248C>A (p.Ser2083Ter) c.6059C>A (p.Ser2020Ter) c.4463C>A (p.Ser1488Ter) n.6599C>A | gnomAD v4 |
| 6 | g.51912376A>C | CA364439174 | PKHD1 | c.6322T>G (p.Ser2108Ala) c.5680T>G (p.Ser1894Ala) c.5611T>G (p.Ser1871Ala) c.397T>G (p.Ser133Ala) c.6247T>G (p.Ser2083Ala) c.6058T>G (p.Ser2020Ala) c.4462T>G (p.Ser1488Ala) n.6598T>G | |
| 6 | g.51912376A>G | CA364439175 | PKHD1 | c.6322T>C (p.Ser2108Pro) c.5680T>C (p.Ser1894Pro) c.5611T>C (p.Ser1871Pro) c.397T>C (p.Ser133Pro) c.6247T>C (p.Ser2083Pro) c.6058T>C (p.Ser2020Pro) c.4462T>C (p.Ser1488Pro) n.6598T>C | |
| 6 | g.51912376A>T | CA364439177 | PKHD1 | c.6322T>A (p.Ser2108Thr) c.5680T>A (p.Ser1894Thr) c.5611T>A (p.Ser1871Thr) c.397T>A (p.Ser133Thr) c.6247T>A (p.Ser2083Thr) c.6058T>A (p.Ser2020Thr) c.4462T>A (p.Ser1488Thr) n.6598T>A | |
| 6 | g.51912377C>A | CA364439179 | PKHD1 | c.6321G>T (p.Lys2107Asn) c.5679G>T (p.Lys1893Asn) c.5610G>T (p.Lys1870Asn) c.396G>T (p.Lys132Asn) c.6246G>T (p.Lys2082Asn) c.6057G>T (p.Lys2019Asn) c.4461G>T (p.Lys1487Asn) n.6597G>T | |
| 6 | g.51912377C>G | CA364439180 | PKHD1 | c.6321G>C (p.Lys2107Asn) c.5679G>C (p.Lys1893Asn) c.5610G>C (p.Lys1870Asn) c.396G>C (p.Lys132Asn) c.6246G>C (p.Lys2082Asn) c.6057G>C (p.Lys2019Asn) c.4461G>C (p.Lys1487Asn) n.6597G>C | gnomAD v4 |
| 6 | g.51912377C>T | CA450415920 | PKHD1 | c.6321G>A (p.Lys2107=) c.5679G>A (p.Lys1893=) c.5610G>A (p.Lys1870=) c.396G>A (p.Lys132=) c.6246G>A (p.Lys2082=) c.6057G>A (p.Lys2019=) c.4461G>A (p.Lys1487=) n.6597G>A | |
| 6 | g.51912377_51912379delinsA | CA2580075491 | PKHD1 | c.6319_6321delinsT (p.Lys2107PhefsTer?) c.5677_5679delinsT (p.Lys1893PhefsTer?) c.5608_5610delinsT (p.Lys1870PhefsTer?) c.394_396delinsT (p.Lys132PhefsTer?) c.6244_6246delinsT (p.Lys2082PhefsTer?) c.6055_6057delinsT (p.Lys2019PhefsTer?) c.4459_4461delinsT (p.Lys1487PhefsTer?) n.6595_6597delinsT | ClinVar |
| 6 | g.51912378T>A | CA364439183 | PKHD1 | c.6320A>T (p.Lys2107Met) c.5678A>T (p.Lys1893Met) c.5609A>T (p.Lys1870Met) c.395A>T (p.Lys132Met) c.6245A>T (p.Lys2082Met) c.6056A>T (p.Lys2019Met) c.4460A>T (p.Lys1487Met) n.6596A>T | |
| 6 | g.51912378T>C | CA364439184 | PKHD1 | c.6320A>G (p.Lys2107Arg) c.5678A>G (p.Lys1893Arg) c.5609A>G (p.Lys1870Arg) c.395A>G (p.Lys132Arg) c.6245A>G (p.Lys2082Arg) c.6056A>G (p.Lys2019Arg) c.4460A>G (p.Lys1487Arg) n.6596A>G | |
| 6 | g.51912378T>G | CA3852299 | PKHD1 | c.6320A>C (p.Lys2107Thr) c.5678A>C (p.Lys1893Thr) c.5609A>C (p.Lys1870Thr) c.395A>C (p.Lys132Thr) c.6245A>C (p.Lys2082Thr) c.6056A>C (p.Lys2019Thr) c.4460A>C (p.Lys1487Thr) n.6596A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912378T= | CA1628583289 | PKHD1 | c.6320A= (p.Lys2107=) c.5678A= (p.Lys1893=) c.5609A= (p.Lys1870=) c.395A= (p.Lys132=) c.6245A= (p.Lys2082=) c.6056A= (p.Lys2019=) c.4460A= (p.Lys1487=) n.6596A= | |
| 6 | g.51912379T>A | CA364439188 | PKHD1 | c.6319A>T (p.Lys2107Ter) c.5677A>T (p.Lys1893Ter) c.5608A>T (p.Lys1870Ter) c.394A>T (p.Lys132Ter) c.6244A>T (p.Lys2082Ter) c.6055A>T (p.Lys2019Ter) c.4459A>T (p.Lys1487Ter) n.6595A>T | |
| 6 | g.51912379T>C | CA364439190 | PKHD1 | c.6319A>G (p.Lys2107Glu) c.5677A>G (p.Lys1893Glu) c.5608A>G (p.Lys1870Glu) c.394A>G (p.Lys132Glu) c.6244A>G (p.Lys2082Glu) c.6055A>G (p.Lys2019Glu) c.4459A>G (p.Lys1487Glu) n.6595A>G | gnomAD v4 |
| 6 | g.51912379T>G | CA364439192 | PKHD1 | c.6319A>C (p.Lys2107Gln) c.5677A>C (p.Lys1893Gln) c.5608A>C (p.Lys1870Gln) c.394A>C (p.Lys132Gln) c.6244A>C (p.Lys2082Gln) c.6055A>C (p.Lys2019Gln) c.4459A>C (p.Lys1487Gln) n.6595A>C | |
| 6 | g.51912380A>C | CA450415921 | PKHD1 | c.6318T>G (p.Leu2106=) c.5676T>G (p.Leu1892=) c.5607T>G (p.Leu1869=) c.393T>G (p.Leu131=) c.6243T>G (p.Leu2081=) c.6054T>G (p.Leu2018=) c.4458T>G (p.Leu1486=) n.6594T>G | |
| 6 | g.51912380A>G | CA450415922 | PKHD1 | c.6318T>C (p.Leu2106=) c.5676T>C (p.Leu1892=) c.5607T>C (p.Leu1869=) c.393T>C (p.Leu131=) c.6243T>C (p.Leu2081=) c.6054T>C (p.Leu2018=) c.4458T>C (p.Leu1486=) n.6594T>C | |
| 6 | g.51912380A>T | CA450415923 | PKHD1 | c.6318T>A (p.Leu2106=) c.5676T>A (p.Leu1892=) c.5607T>A (p.Leu1869=) c.393T>A (p.Leu131=) c.6243T>A (p.Leu2081=) c.6054T>A (p.Leu2018=) c.4458T>A (p.Leu1486=) n.6594T>A | |
| 6 | g.51912380_51912383del | CA645561175 | PKHD1 | c.6315_6318del (p.Tyr2105Ter) c.5673_5676del (p.Tyr1891Ter) c.5604_5607del (p.Tyr1868Ter) c.390_393del (p.Tyr130Ter) c.6240_6243del (p.Tyr2080Ter) c.6051_6054del (p.Tyr2017Ter) c.4455_4458del (p.Tyr1485Ter) n.6591_6594del | COSMIC COSMIC |
| 6 | g.51912381A= | CA1628583291 | PKHD1 | c.6317T= (p.Leu2106=) c.5675T= (p.Leu1892=) c.5606T= (p.Leu1869=) c.392T= (p.Leu131=) c.6242T= (p.Leu2081=) c.6053T= (p.Leu2018=) c.4457T= (p.Leu1486=) n.6593T= | |
| 6 | g.51912381A>C | CA364439194 | PKHD1 | c.6317T>G (p.Leu2106Arg) c.5675T>G (p.Leu1892Arg) c.5606T>G (p.Leu1869Arg) c.392T>G (p.Leu131Arg) c.6242T>G (p.Leu2081Arg) c.6053T>G (p.Leu2018Arg) c.4457T>G (p.Leu1486Arg) n.6593T>G | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.51912381A>G | CA364439198 | PKHD1 | c.6317T>C (p.Leu2106Pro) c.5675T>C (p.Leu1892Pro) c.5606T>C (p.Leu1869Pro) c.392T>C (p.Leu131Pro) c.6242T>C (p.Leu2081Pro) c.6053T>C (p.Leu2018Pro) c.4457T>C (p.Leu1486Pro) n.6593T>C | |
| 6 | g.51912381A>T | CA364439196 | PKHD1 | c.6317T>A (p.Leu2106His) c.5675T>A (p.Leu1892His) c.5606T>A (p.Leu1869His) c.392T>A (p.Leu131His) c.6242T>A (p.Leu2081His) c.6053T>A (p.Leu2018His) c.4457T>A (p.Leu1486His) n.6593T>A | |
| 6 | g.51912381_51912398del | CA913110698 | PKHD1 | c.6300_6317del (p.Gln2100_Leu2106delinsHis) c.5658_5675del (p.Gln1886_Leu1892delinsHis) c.5589_5606del (p.Gln1863_Leu1869delinsHis) c.375_392del (p.Gln125_Leu131delinsHis) c.6225_6242del (p.Gln2075_Leu2081delinsHis) c.6036_6053del (p.Gln2012_Leu2018delinsHis) c.4440_4457del (p.Gln1480_Leu1486delinsHis) n.6576_6593del | |
| 6 | g.51912381_51912398delinsAGATAGAGGTCTGTATCC | CA1628583292 | PKHD1 | c.6300_6317delinsGGATACAGACCTCTATCT (p.Gln2100=) c.5658_5675delinsGGATACAGACCTCTATCT (p.Gln1886=) c.5589_5606delinsGGATACAGACCTCTATCT (p.Gln1863=) c.375_392delinsGGATACAGACCTCTATCT (p.Gln125=) c.6225_6242delinsGGATACAGACCTCTATCT (p.Gln2075=) c.6036_6053delinsGGATACAGACCTCTATCT (p.Gln2012=) c.4440_4457delinsGGATACAGACCTCTATCT (p.Gln1480=) n.6576_6593delinsGGATACAGACCTCTATCT | |
| 6 | g.51912382G>A | CA364439201 | PKHD1 | c.6316C>T (p.Leu2106Phe) c.5674C>T (p.Leu1892Phe) c.5605C>T (p.Leu1869Phe) c.391C>T (p.Leu131Phe) c.6241C>T (p.Leu2081Phe) c.6052C>T (p.Leu2018Phe) c.4456C>T (p.Leu1486Phe) n.6592C>T | COSMIC COSMIC |
| 6 | g.51912382G>C | CA364439204 | PKHD1 | c.6316C>G (p.Leu2106Val) c.5674C>G (p.Leu1892Val) c.5605C>G (p.Leu1869Val) c.391C>G (p.Leu131Val) c.6241C>G (p.Leu2081Val) c.6052C>G (p.Leu2018Val) c.4456C>G (p.Leu1486Val) n.6592C>G | gnomAD v4 |
| 6 | g.51912382G>T | CA364439206 | PKHD1 | c.6316C>A (p.Leu2106Ile) c.5674C>A (p.Leu1892Ile) c.5605C>A (p.Leu1869Ile) c.391C>A (p.Leu131Ile) c.6241C>A (p.Leu2081Ile) c.6052C>A (p.Leu2018Ile) c.4456C>A (p.Leu1486Ile) n.6592C>A | |
| 6 | g.51912382_51912398del | CA658822584 | PKHD1 | c.6300_6316del (p.Gln2100HisfsTer2) c.5658_5674del (p.Gln1886HisfsTer2) c.5589_5605del (p.Gln1863HisfsTer2) c.375_391del (p.Gln125HisfsTer2) c.6225_6241del (p.Gln2075HisfsTer2) c.6036_6052del (p.Gln2012HisfsTer2) c.4440_4456del (p.Gln1480HisfsTer2) n.6576_6592del | ClinVar dbSNP |
| 6 | g.51912383A= | CA1628583296 | PKHD1 | c.6315T= (p.Tyr2105=) c.5673T= (p.Tyr1891=) c.5604T= (p.Tyr1868=) c.390T= (p.Tyr130=) c.6240T= (p.Tyr2080=) c.6051T= (p.Tyr2017=) c.4455T= (p.Tyr1485=) n.6591T= | |
| 6 | g.51912383A>C | CA364439209 | PKHD1 | c.6315T>G (p.Tyr2105Ter) c.5673T>G (p.Tyr1891Ter) c.5604T>G (p.Tyr1868Ter) c.390T>G (p.Tyr130Ter) c.6240T>G (p.Tyr2080Ter) c.6051T>G (p.Tyr2017Ter) c.4455T>G (p.Tyr1485Ter) n.6591T>G | |
| 6 | g.51912383A>G | CA450415924 | PKHD1 | c.6315T>C (p.Tyr2105=) c.5673T>C (p.Tyr1891=) c.5604T>C (p.Tyr1868=) c.390T>C (p.Tyr130=) c.6240T>C (p.Tyr2080=) c.6051T>C (p.Tyr2017=) c.4455T>C (p.Tyr1485=) n.6591T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912383A>T | CA364439211 | PKHD1 | c.6315T>A (p.Tyr2105Ter) c.5673T>A (p.Tyr1891Ter) c.5604T>A (p.Tyr1868Ter) c.390T>A (p.Tyr130Ter) c.6240T>A (p.Tyr2080Ter) c.6051T>A (p.Tyr2017Ter) c.4455T>A (p.Tyr1485Ter) n.6591T>A | |
| 6 | g.51912384T>A | CA364439213 | PKHD1 | c.6314A>T (p.Tyr2105Phe) c.5672A>T (p.Tyr1891Phe) c.5603A>T (p.Tyr1868Phe) c.389A>T (p.Tyr130Phe) c.6239A>T (p.Tyr2080Phe) c.6050A>T (p.Tyr2017Phe) c.4454A>T (p.Tyr1485Phe) n.6590A>T | |
| 6 | g.51912384T>C | CA364439216 | PKHD1 | c.6314A>G (p.Tyr2105Cys) c.5672A>G (p.Tyr1891Cys) c.5603A>G (p.Tyr1868Cys) c.389A>G (p.Tyr130Cys) c.6239A>G (p.Tyr2080Cys) c.6050A>G (p.Tyr2017Cys) c.4454A>G (p.Tyr1485Cys) n.6590A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.51912384T>G | CA364439218 | PKHD1 | c.6314A>C (p.Tyr2105Ser) c.5672A>C (p.Tyr1891Ser) c.5603A>C (p.Tyr1868Ser) c.389A>C (p.Tyr130Ser) c.6239A>C (p.Tyr2080Ser) c.6050A>C (p.Tyr2017Ser) c.4454A>C (p.Tyr1485Ser) n.6590A>C | |
| 6 | g.51912385A>C | CA364439219 | PKHD1 | c.6313T>G (p.Tyr2105Asp) c.5671T>G (p.Tyr1891Asp) c.5602T>G (p.Tyr1868Asp) c.388T>G (p.Tyr130Asp) c.6238T>G (p.Tyr2080Asp) c.6049T>G (p.Tyr2017Asp) c.4453T>G (p.Tyr1485Asp) n.6589T>G | gnomAD v4 |
| 6 | g.51912385A>G | CA364439220 | PKHD1 | c.6313T>C (p.Tyr2105His) c.5671T>C (p.Tyr1891His) c.5602T>C (p.Tyr1868His) c.388T>C (p.Tyr130His) c.6238T>C (p.Tyr2080His) c.6049T>C (p.Tyr2017His) c.4453T>C (p.Tyr1485His) n.6589T>C | gnomAD v4 |
| 6 | g.51912385A>T | CA364439221 | PKHD1 | c.6313T>A (p.Tyr2105Asn) c.5671T>A (p.Tyr1891Asn) c.5602T>A (p.Tyr1868Asn) c.388T>A (p.Tyr130Asn) c.6238T>A (p.Tyr2080Asn) c.6049T>A (p.Tyr2017Asn) c.4453T>A (p.Tyr1485Asn) n.6589T>A | |
| 6 | g.51912387_51912388del | CA2695198866 | PKHD1 | c.6312_6313del (p.Tyr2105SerfsTer2) c.5670_5671del (p.Tyr1891SerfsTer2) c.5601_5602del (p.Tyr1868SerfsTer2) c.387_388del (p.Tyr130SerfsTer2) c.6237_6238del (p.Tyr2080SerfsTer2) c.6048_6049del (p.Tyr2017SerfsTer2) c.4452_4453del (p.Tyr1485SerfsTer2) n.6588_6589del | ClinVar |
| 6 | g.51912386G>A | CA450415927 | PKHD1 | c.6312C>T (p.Leu2104=) c.5670C>T (p.Leu1890=) c.5601C>T (p.Leu1867=) c.387C>T (p.Leu129=) c.6237C>T (p.Leu2079=) c.6048C>T (p.Leu2016=) c.4452C>T (p.Leu1484=) n.6588C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912386G>C | CA450415926 | PKHD1 | c.6312C>G (p.Leu2104=) c.5670C>G (p.Leu1890=) c.5601C>G (p.Leu1867=) c.387C>G (p.Leu129=) c.6237C>G (p.Leu2079=) c.6048C>G (p.Leu2016=) c.4452C>G (p.Leu1484=) n.6588C>G | |
| 6 | g.51912386G= | CA1628583297 | PKHD1 | c.6312C= (p.Leu2104=) c.5670C= (p.Leu1890=) c.5601C= (p.Leu1867=) c.387C= (p.Leu129=) c.6237C= (p.Leu2079=) c.6048C= (p.Leu2016=) c.4452C= (p.Leu1484=) n.6588C= | |
| 6 | g.51912386G>T | CA450415925 | PKHD1 | c.6312C>A (p.Leu2104=) c.5670C>A (p.Leu1890=) c.5601C>A (p.Leu1867=) c.387C>A (p.Leu129=) c.6237C>A (p.Leu2079=) c.6048C>A (p.Leu2016=) c.4452C>A (p.Leu1484=) n.6588C>A | |
| 6 | g.51912387A>C | CA364439227 | PKHD1 | c.6311T>G (p.Leu2104Arg) c.5669T>G (p.Leu1890Arg) c.5600T>G (p.Leu1867Arg) c.386T>G (p.Leu129Arg) c.6236T>G (p.Leu2079Arg) c.6047T>G (p.Leu2016Arg) c.4451T>G (p.Leu1484Arg) n.6587T>G | ClinVar |
| 6 | g.51912387A>G | CA364439228 | PKHD1 | c.6311T>C (p.Leu2104Pro) c.5669T>C (p.Leu1890Pro) c.5600T>C (p.Leu1867Pro) c.386T>C (p.Leu129Pro) c.6236T>C (p.Leu2079Pro) c.6047T>C (p.Leu2016Pro) c.4451T>C (p.Leu1484Pro) n.6587T>C | |
| 6 | g.51912387A>T | CA364439225 | PKHD1 | c.6311T>A (p.Leu2104His) c.5669T>A (p.Leu1890His) c.5600T>A (p.Leu1867His) c.386T>A (p.Leu129His) c.6236T>A (p.Leu2079His) c.6047T>A (p.Leu2016His) c.4451T>A (p.Leu1484His) n.6587T>A | |
| 6 | g.51912388G>A | CA364439230 | PKHD1 | c.6310C>T (p.Leu2104Phe) c.5668C>T (p.Leu1890Phe) c.5599C>T (p.Leu1867Phe) c.385C>T (p.Leu129Phe) c.6235C>T (p.Leu2079Phe) c.6046C>T (p.Leu2016Phe) c.4450C>T (p.Leu1484Phe) n.6586C>T | |
| 6 | g.51912388G>C | CA364439232 | PKHD1 | c.6310C>G (p.Leu2104Val) c.5668C>G (p.Leu1890Val) c.5599C>G (p.Leu1867Val) c.385C>G (p.Leu129Val) c.6235C>G (p.Leu2079Val) c.6046C>G (p.Leu2016Val) c.4450C>G (p.Leu1484Val) n.6586C>G | gnomAD v4 |
| 6 | g.51912388G= | CA1628583298 | PKHD1 | c.6310C= (p.Leu2104=) c.5668C= (p.Leu1890=) c.5599C= (p.Leu1867=) c.385C= (p.Leu129=) c.6235C= (p.Leu2079=) c.6046C= (p.Leu2016=) c.4450C= (p.Leu1484=) n.6586C= | |
| 6 | g.51912388G>T | CA3852300 | PKHD1 | c.6310C>A (p.Leu2104Ile) c.5668C>A (p.Leu1890Ile) c.5599C>A (p.Leu1867Ile) c.385C>A (p.Leu129Ile) c.6235C>A (p.Leu2079Ile) c.6046C>A (p.Leu2016Ile) c.4450C>A (p.Leu1484Ile) n.6586C>A | dbSNP ExAC gnomAD v2 |
| 6 | g.51912389G>A | CA450415928 | PKHD1 | c.6309C>T (p.Asp2103=) c.5667C>T (p.Asp1889=) c.5598C>T (p.Asp1866=) c.384C>T (p.Asp128=) c.6234C>T (p.Asp2078=) c.6045C>T (p.Asp2015=) c.4449C>T (p.Asp1483=) n.6585C>T | |
| 6 | g.51912389G>C | CA364439237 | PKHD1 | c.6309C>G (p.Asp2103Glu) c.5667C>G (p.Asp1889Glu) c.5598C>G (p.Asp1866Glu) c.384C>G (p.Asp128Glu) c.6234C>G (p.Asp2078Glu) c.6045C>G (p.Asp2015Glu) c.4449C>G (p.Asp1483Glu) n.6585C>G | |
| 6 | g.51912389G= | CA1628583301 | PKHD1 | c.6309C= (p.Asp2103=) c.5667C= (p.Asp1889=) c.5598C= (p.Asp1866=) c.384C= (p.Asp128=) c.6234C= (p.Asp2078=) c.6045C= (p.Asp2015=) c.4449C= (p.Asp1483=) n.6585C= | |
| 6 | g.51912389G>T | CA3852301 | PKHD1 | c.6309C>A (p.Asp2103Glu) c.5667C>A (p.Asp1889Glu) c.5598C>A (p.Asp1866Glu) c.384C>A (p.Asp128Glu) c.6234C>A (p.Asp2078Glu) c.6045C>A (p.Asp2015Glu) c.4449C>A (p.Asp1483Glu) n.6585C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912390T>A | CA364439239 | PKHD1 | c.6308A>T (p.Asp2103Val) c.5666A>T (p.Asp1889Val) c.5597A>T (p.Asp1866Val) c.383A>T (p.Asp128Val) c.6233A>T (p.Asp2078Val) c.6044A>T (p.Asp2015Val) c.4448A>T (p.Asp1483Val) n.6584A>T | |
| 6 | g.51912390T>C | CA364439240 | PKHD1 | c.6308A>G (p.Asp2103Gly) c.5666A>G (p.Asp1889Gly) c.5597A>G (p.Asp1866Gly) c.383A>G (p.Asp128Gly) c.6233A>G (p.Asp2078Gly) c.6044A>G (p.Asp2015Gly) c.4448A>G (p.Asp1483Gly) n.6584A>G | gnomAD v4 |
| 6 | g.51912390T>G | CA364439242 | PKHD1 | c.6308A>C (p.Asp2103Ala) c.5666A>C (p.Asp1889Ala) c.5597A>C (p.Asp1866Ala) c.383A>C (p.Asp128Ala) c.6233A>C (p.Asp2078Ala) c.6044A>C (p.Asp2015Ala) c.4448A>C (p.Asp1483Ala) n.6584A>C | |
| 6 | g.51912391C>A | CA364439245 | PKHD1 | c.6307G>T (p.Asp2103Tyr) c.5665G>T (p.Asp1889Tyr) c.5596G>T (p.Asp1866Tyr) c.382G>T (p.Asp128Tyr) c.6232G>T (p.Asp2078Tyr) c.6043G>T (p.Asp2015Tyr) c.4447G>T (p.Asp1483Tyr) n.6583G>T | |
| 6 | g.51912391C>G | CA364439247 | PKHD1 | c.6307G>C (p.Asp2103His) c.5665G>C (p.Asp1889His) c.5596G>C (p.Asp1866His) c.382G>C (p.Asp128His) c.6232G>C (p.Asp2078His) c.6043G>C (p.Asp2015His) c.4447G>C (p.Asp1483His) n.6583G>C | |
| 6 | g.51912391C>T | CA364439249 | PKHD1 | c.6307G>A (p.Asp2103Asn) c.5665G>A (p.Asp1889Asn) c.5596G>A (p.Asp1866Asn) c.382G>A (p.Asp128Asn) c.6232G>A (p.Asp2078Asn) c.6043G>A (p.Asp2015Asn) c.4447G>A (p.Asp1483Asn) n.6583G>A | gnomAD v4 |
| 6 | g.51912392T>A | CA450415929 | PKHD1 | c.6306A>T (p.Thr2102=) c.5664A>T (p.Thr1888=) c.5595A>T (p.Thr1865=) c.381A>T (p.Thr127=) c.6231A>T (p.Thr2077=) c.6042A>T (p.Thr2014=) c.4446A>T (p.Thr1482=) n.6582A>T | |
| 6 | g.51912392T>C | CA3852302 | PKHD1 | c.6306A>G (p.Thr2102=) c.5664A>G (p.Thr1888=) c.5595A>G (p.Thr1865=) c.381A>G (p.Thr127=) c.6231A>G (p.Thr2077=) c.6042A>G (p.Thr2014=) c.4446A>G (p.Thr1482=) n.6582A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912392T>G | CA450415930 | PKHD1 | c.6306A>C (p.Thr2102=) c.5664A>C (p.Thr1888=) c.5595A>C (p.Thr1865=) c.381A>C (p.Thr127=) c.6231A>C (p.Thr2077=) c.6042A>C (p.Thr2014=) c.4446A>C (p.Thr1482=) n.6582A>C | |
| 6 | g.51912392T= | CA1628583305 | PKHD1 | c.6306A= (p.Thr2102=) c.5664A= (p.Thr1888=) c.5595A= (p.Thr1865=) c.381A= (p.Thr127=) c.6231A= (p.Thr2077=) c.6042A= (p.Thr2014=) c.4446A= (p.Thr1482=) n.6582A= | |
| 6 | g.51912393G>A | CA364439255 | PKHD1 | c.6305C>T (p.Thr2102Ile) c.5663C>T (p.Thr1888Ile) c.5594C>T (p.Thr1865Ile) c.380C>T (p.Thr127Ile) c.6230C>T (p.Thr2077Ile) c.6041C>T (p.Thr2014Ile) c.4445C>T (p.Thr1482Ile) n.6581C>T | |
| 6 | g.51912393G>C | CA364439257 | PKHD1 | c.6305C>G (p.Thr2102Arg) c.5663C>G (p.Thr1888Arg) c.5594C>G (p.Thr1865Arg) c.380C>G (p.Thr127Arg) c.6230C>G (p.Thr2077Arg) c.6041C>G (p.Thr2014Arg) c.4445C>G (p.Thr1482Arg) n.6581C>G | |
| 6 | g.51912393G= | CA1628583307 | PKHD1 | c.6305C= (p.Thr2102=) c.5663C= (p.Thr1888=) c.5594C= (p.Thr1865=) c.380C= (p.Thr127=) c.6230C= (p.Thr2077=) c.6041C= (p.Thr2014=) c.4445C= (p.Thr1482=) n.6581C= | |
| 6 | g.51912393G>T | CA3852303 | PKHD1 | c.6305C>A (p.Thr2102Lys) c.5663C>A (p.Thr1888Lys) c.5594C>A (p.Thr1865Lys) c.380C>A (p.Thr127Lys) c.6230C>A (p.Thr2077Lys) c.6041C>A (p.Thr2014Lys) c.4445C>A (p.Thr1482Lys) n.6581C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912394T>A | CA364439260 | PKHD1 | c.6304A>T (p.Thr2102Ser) c.5662A>T (p.Thr1888Ser) c.5593A>T (p.Thr1865Ser) c.379A>T (p.Thr127Ser) c.6229A>T (p.Thr2077Ser) c.6040A>T (p.Thr2014Ser) c.4444A>T (p.Thr1482Ser) n.6580A>T | |
| 6 | g.51912394T>C | CA364439261 | PKHD1 | c.6304A>G (p.Thr2102Ala) c.5662A>G (p.Thr1888Ala) c.5593A>G (p.Thr1865Ala) c.379A>G (p.Thr127Ala) c.6229A>G (p.Thr2077Ala) c.6040A>G (p.Thr2014Ala) c.4444A>G (p.Thr1482Ala) n.6580A>G | |
| 6 | g.51912394T>G | CA364439262 | PKHD1 | c.6304A>C (p.Thr2102Pro) c.5662A>C (p.Thr1888Pro) c.5593A>C (p.Thr1865Pro) c.379A>C (p.Thr127Pro) c.6229A>C (p.Thr2077Pro) c.6040A>C (p.Thr2014Pro) c.4444A>C (p.Thr1482Pro) n.6580A>C | |
| 6 | g.51912394_51912411del | CA2679081919 | PKHD1 | c.6287_6304del (p.Val2096_Thr2102delinsAla) c.5645_5662del (p.Val1882_Thr1888delinsAla) c.5576_5593del (p.Val1859_Thr1865delinsAla) c.362_379del (p.Val121_Thr127delinsAla) c.6212_6229del (p.Val2071_Thr2077delinsAla) c.6023_6040del (p.Val2008_Thr2014delinsAla) c.4427_4444del (p.Val1476_Thr1482delinsAla) n.6563_6580del | gnomAD v4 |
| 6 | g.51912395A>C | CA364439264 | PKHD1 | c.6303T>G (p.Asp2101Glu) c.5661T>G (p.Asp1887Glu) c.5592T>G (p.Asp1864Glu) c.378T>G (p.Asp126Glu) c.6228T>G (p.Asp2076Glu) c.6039T>G (p.Asp2013Glu) c.4443T>G (p.Asp1481Glu) n.6579T>G | |
| 6 | g.51912395A>G | CA450415931 | PKHD1 | c.6303T>C (p.Asp2101=) c.5661T>C (p.Asp1887=) c.5592T>C (p.Asp1864=) c.378T>C (p.Asp126=) c.6228T>C (p.Asp2076=) c.6039T>C (p.Asp2013=) c.4443T>C (p.Asp1481=) n.6579T>C | |
| 6 | g.51912395A>T | CA364439266 | PKHD1 | c.6303T>A (p.Asp2101Glu) c.5661T>A (p.Asp1887Glu) c.5592T>A (p.Asp1864Glu) c.378T>A (p.Asp126Glu) c.6228T>A (p.Asp2076Glu) c.6039T>A (p.Asp2013Glu) c.4443T>A (p.Asp1481Glu) n.6579T>A | |
| 6 | g.51912396T>A | CA364439272 | PKHD1 | c.6302A>T (p.Asp2101Val) c.5660A>T (p.Asp1887Val) c.5591A>T (p.Asp1864Val) c.377A>T (p.Asp126Val) c.6227A>T (p.Asp2076Val) c.6038A>T (p.Asp2013Val) c.4442A>T (p.Asp1481Val) n.6578A>T | |
| 6 | g.51912396T>C | CA364439270 | PKHD1 | c.6302A>G (p.Asp2101Gly) c.5660A>G (p.Asp1887Gly) c.5591A>G (p.Asp1864Gly) c.377A>G (p.Asp126Gly) c.6227A>G (p.Asp2076Gly) c.6038A>G (p.Asp2013Gly) c.4442A>G (p.Asp1481Gly) n.6578A>G | |
| 6 | g.51912396T>G | CA364439269 | PKHD1 | c.6302A>C (p.Asp2101Ala) c.5660A>C (p.Asp1887Ala) c.5591A>C (p.Asp1864Ala) c.377A>C (p.Asp126Ala) c.6227A>C (p.Asp2076Ala) c.6038A>C (p.Asp2013Ala) c.4442A>C (p.Asp1481Ala) n.6578A>C | |
| 6 | g.51912397C>A | CA364439275 | PKHD1 | c.6301G>T (p.Asp2101Tyr) c.5659G>T (p.Asp1887Tyr) c.5590G>T (p.Asp1864Tyr) c.376G>T (p.Asp126Tyr) c.6226G>T (p.Asp2076Tyr) c.6037G>T (p.Asp2013Tyr) c.4441G>T (p.Asp1481Tyr) n.6577G>T | |
| 6 | g.51912397C>G | CA364439277 | PKHD1 | c.6301G>C (p.Asp2101His) c.5659G>C (p.Asp1887His) c.5590G>C (p.Asp1864His) c.376G>C (p.Asp126His) c.6226G>C (p.Asp2076His) c.6037G>C (p.Asp2013His) c.4441G>C (p.Asp1481His) n.6577G>C | |
| 6 | g.51912397C>T | CA364439279 | PKHD1 | c.6301G>A (p.Asp2101Asn) c.5659G>A (p.Asp1887Asn) c.5590G>A (p.Asp1864Asn) c.376G>A (p.Asp126Asn) c.6226G>A (p.Asp2076Asn) c.6037G>A (p.Asp2013Asn) c.4441G>A (p.Asp1481Asn) n.6577G>A | |
| 6 | g.51912398C>A | CA364439281 | PKHD1 | c.6300G>T (p.Gln2100His) c.5658G>T (p.Gln1886His) c.5589G>T (p.Gln1863His) c.375G>T (p.Gln125His) c.6225G>T (p.Gln2075His) c.6036G>T (p.Gln2012His) c.4440G>T (p.Gln1480His) n.6576G>T | COSMIC COSMIC |
| 6 | g.51912398C= | CA1628583311 | PKHD1 | c.6300G= (p.Gln2100=) c.5658G= (p.Gln1886=) c.5589G= (p.Gln1863=) c.375G= (p.Gln125=) c.6225G= (p.Gln2075=) c.6036G= (p.Gln2012=) c.4440G= (p.Gln1480=) n.6576G= | |
| 6 | g.51912398C>G | CA364439282 | PKHD1 | c.6300G>C (p.Gln2100His) c.5658G>C (p.Gln1886His) c.5589G>C (p.Gln1863His) c.375G>C (p.Gln125His) c.6225G>C (p.Gln2075His) c.6036G>C (p.Gln2012His) c.4440G>C (p.Gln1480His) n.6576G>C | |
| 6 | g.51912398C>T | CA3852304 | PKHD1 | c.6300G>A (p.Gln2100=) c.5658G>A (p.Gln1886=) c.5589G>A (p.Gln1863=) c.375G>A (p.Gln125=) c.6225G>A (p.Gln2075=) c.6036G>A (p.Gln2012=) c.4440G>A (p.Gln1480=) n.6576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912399T>A | CA364439288 | PKHD1 | c.6299A>T (p.Gln2100Leu) c.5657A>T (p.Gln1886Leu) c.5588A>T (p.Gln1863Leu) c.374A>T (p.Gln125Leu) c.6224A>T (p.Gln2075Leu) c.6035A>T (p.Gln2012Leu) c.4439A>T (p.Gln1480Leu) n.6575A>T | |
| 6 | g.51912399T>C | CA364439286 | PKHD1 | c.6299A>G (p.Gln2100Arg) c.5657A>G (p.Gln1886Arg) c.5588A>G (p.Gln1863Arg) c.374A>G (p.Gln125Arg) c.6224A>G (p.Gln2075Arg) c.6035A>G (p.Gln2012Arg) c.4439A>G (p.Gln1480Arg) n.6575A>G | |
| 6 | g.51912399T>G | CA364439284 | PKHD1 | c.6299A>C (p.Gln2100Pro) c.5657A>C (p.Gln1886Pro) c.5588A>C (p.Gln1863Pro) c.374A>C (p.Gln125Pro) c.6224A>C (p.Gln2075Pro) c.6035A>C (p.Gln2012Pro) c.4439A>C (p.Gln1480Pro) n.6575A>C | |
| 6 | g.51912400G>A | CA364439292 | PKHD1 | c.6298C>T (p.Gln2100Ter) c.5656C>T (p.Gln1886Ter) c.5587C>T (p.Gln1863Ter) c.373C>T (p.Gln125Ter) c.6223C>T (p.Gln2075Ter) c.6034C>T (p.Gln2012Ter) c.4438C>T (p.Gln1480Ter) n.6574C>T | |
| 6 | g.51912400G>C | CA364439294 | PKHD1 | c.6298C>G (p.Gln2100Glu) c.5656C>G (p.Gln1886Glu) c.5587C>G (p.Gln1863Glu) c.373C>G (p.Gln125Glu) c.6223C>G (p.Gln2075Glu) c.6034C>G (p.Gln2012Glu) c.4438C>G (p.Gln1480Glu) n.6574C>G | |
| 6 | g.51912400G>T | CA364439296 | PKHD1 | c.6298C>A (p.Gln2100Lys) c.5656C>A (p.Gln1886Lys) c.5587C>A (p.Gln1863Lys) c.373C>A (p.Gln125Lys) c.6223C>A (p.Gln2075Lys) c.6034C>A (p.Gln2012Lys) c.4438C>A (p.Gln1480Lys) n.6574C>A | |
| 6 | g.51912400_51912402delinsGCA | CA1628583314 | PKHD1 | c.6296_6298delinsTGC (p.Val2099=) c.5654_5656delinsTGC (p.Val1885=) c.5585_5587delinsTGC (p.Val1862=) c.371_373delinsTGC (p.Val124=) c.6221_6223delinsTGC (p.Val2074=) c.6032_6034delinsTGC (p.Val2011=) c.4436_4438delinsTGC (p.Val1479=) n.6572_6574delinsTGC | |
| 6 | g.51912401C>A | CA450415932 | PKHD1 | c.6297G>T (p.Val2099=) c.5655G>T (p.Val1885=) c.5586G>T (p.Val1862=) c.372G>T (p.Val124=) c.6222G>T (p.Val2074=) c.6033G>T (p.Val2011=) c.4437G>T (p.Val1479=) n.6573G>T | |
| 6 | g.51912401C= | CA1628583317 | PKHD1 | c.6297G= (p.Val2099=) c.5655G= (p.Val1885=) c.5586G= (p.Val1862=) c.372G= (p.Val124=) c.6222G= (p.Val2074=) c.6033G= (p.Val2011=) c.4437G= (p.Val1479=) n.6573G= | |
| 6 | g.51912401C>G | CA450415933 | PKHD1 | c.6297G>C (p.Val2099=) c.5655G>C (p.Val1885=) c.5586G>C (p.Val1862=) c.372G>C (p.Val124=) c.6222G>C (p.Val2074=) c.6033G>C (p.Val2011=) c.4437G>C (p.Val1479=) n.6573G>C | |
| 6 | g.51912401C>T | CA3852305 | PKHD1 | c.6297G>A (p.Val2099=) c.5655G>A (p.Val1885=) c.5586G>A (p.Val1862=) c.372G>A (p.Val124=) c.6222G>A (p.Val2074=) c.6033G>A (p.Val2011=) c.4437G>A (p.Val1479=) n.6573G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912403_51912404del | CA138910818 | PKHD1 | c.6296_6297del (p.Val2099AlafsTer8) c.5654_5655del (p.Val1885AlafsTer8) c.5585_5586del (p.Val1862AlafsTer8) c.371_372del (p.Val124AlafsTer8) c.6221_6222del (p.Val2074AlafsTer8) c.6032_6033del (p.Val2011AlafsTer8) c.4436_4437del (p.Val1479AlafsTer8) n.6572_6573del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912402A>C | CA364439299 | PKHD1 | c.6296T>G (p.Val2099Gly) c.5654T>G (p.Val1885Gly) c.5585T>G (p.Val1862Gly) c.371T>G (p.Val124Gly) c.6221T>G (p.Val2074Gly) c.6032T>G (p.Val2011Gly) c.4436T>G (p.Val1479Gly) n.6572T>G | |
| 6 | g.51912402A>G | CA364439301 | PKHD1 | c.6296T>C (p.Val2099Ala) c.5654T>C (p.Val1885Ala) c.5585T>C (p.Val1862Ala) c.371T>C (p.Val124Ala) c.6221T>C (p.Val2074Ala) c.6032T>C (p.Val2011Ala) c.4436T>C (p.Val1479Ala) n.6572T>C | |
| 6 | g.51912402A>T | CA364439303 | PKHD1 | c.6296T>A (p.Val2099Glu) c.5654T>A (p.Val1885Glu) c.5585T>A (p.Val1862Glu) c.371T>A (p.Val124Glu) c.6221T>A (p.Val2074Glu) c.6032T>A (p.Val2011Glu) c.4436T>A (p.Val1479Glu) n.6572T>A | |
| 6 | g.51912403C>A | CA364439306 | PKHD1 | c.6295G>T (p.Val2099Leu) c.5653G>T (p.Val1885Leu) c.5584G>T (p.Val1862Leu) c.370G>T (p.Val124Leu) c.6220G>T (p.Val2074Leu) c.6031G>T (p.Val2011Leu) c.4435G>T (p.Val1479Leu) n.6571G>T | |
| 6 | g.51912403C>G | CA364439308 | PKHD1 | c.6295G>C (p.Val2099Leu) c.5653G>C (p.Val1885Leu) c.5584G>C (p.Val1862Leu) c.370G>C (p.Val124Leu) c.6220G>C (p.Val2074Leu) c.6031G>C (p.Val2011Leu) c.4435G>C (p.Val1479Leu) n.6571G>C | |
| 6 | g.51912403C>T | CA364439310 | PKHD1 | c.6295G>A (p.Val2099Met) c.5653G>A (p.Val1885Met) c.5584G>A (p.Val1862Met) c.370G>A (p.Val124Met) c.6220G>A (p.Val2074Met) c.6031G>A (p.Val2011Met) c.4435G>A (p.Val1479Met) n.6571G>A | gnomAD v4 |
| 6 | g.51912404A= | CA1628583324 | PKHD1 | c.6294T= (p.Thr2098=) c.5652T= (p.Thr1884=) c.5583T= (p.Thr1861=) c.369T= (p.Thr123=) c.6219T= (p.Thr2073=) c.6030T= (p.Thr2010=) c.4434T= (p.Thr1478=) n.6570T= | |
| 6 | g.51912404A>C | CA450415934 | PKHD1 | c.6294T>G (p.Thr2098=) c.5652T>G (p.Thr1884=) c.5583T>G (p.Thr1861=) c.369T>G (p.Thr123=) c.6219T>G (p.Thr2073=) c.6030T>G (p.Thr2010=) c.4434T>G (p.Thr1478=) n.6570T>G | ClinVar |
| 6 | g.51912404A>G | CA450415935 | PKHD1 | c.6294T>C (p.Thr2098=) c.5652T>C (p.Thr1884=) c.5583T>C (p.Thr1861=) c.369T>C (p.Thr123=) c.6219T>C (p.Thr2073=) c.6030T>C (p.Thr2010=) c.4434T>C (p.Thr1478=) n.6570T>C | gnomAD v4 |
| 6 | g.51912404A>T | CA138910820 | PKHD1 | c.6294T>A (p.Thr2098=) c.5652T>A (p.Thr1884=) c.5583T>A (p.Thr1861=) c.369T>A (p.Thr123=) c.6219T>A (p.Thr2073=) c.6030T>A (p.Thr2010=) c.4434T>A (p.Thr1478=) n.6570T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912405G>A | CA364439313 | PKHD1 | c.6293C>T (p.Thr2098Ile) c.5651C>T (p.Thr1884Ile) c.5582C>T (p.Thr1861Ile) c.368C>T (p.Thr123Ile) c.6218C>T (p.Thr2073Ile) c.6029C>T (p.Thr2010Ile) c.4433C>T (p.Thr1478Ile) n.6569C>T | dbSNP gnomAD v4 |
| 6 | g.51912405G>C | CA364439315 | PKHD1 | c.6293C>G (p.Thr2098Ser) c.5651C>G (p.Thr1884Ser) c.5582C>G (p.Thr1861Ser) c.368C>G (p.Thr123Ser) c.6218C>G (p.Thr2073Ser) c.6029C>G (p.Thr2010Ser) c.4433C>G (p.Thr1478Ser) n.6569C>G | gnomAD v4 |
| 6 | g.51912405G= | CA1628583329 | PKHD1 | c.6293C= (p.Thr2098=) c.5651C= (p.Thr1884=) c.5582C= (p.Thr1861=) c.368C= (p.Thr123=) c.6218C= (p.Thr2073=) c.6029C= (p.Thr2010=) c.4433C= (p.Thr1478=) n.6569C= | |
| 6 | g.51912405G>T | CA364439317 | PKHD1 | c.6293C>A (p.Thr2098Asn) c.5651C>A (p.Thr1884Asn) c.5582C>A (p.Thr1861Asn) c.368C>A (p.Thr123Asn) c.6218C>A (p.Thr2073Asn) c.6029C>A (p.Thr2010Asn) c.4433C>A (p.Thr1478Asn) n.6569C>A | |
| 6 | g.51912406T>A | CA364439323 | PKHD1 | c.6292A>T (p.Thr2098Ser) c.5650A>T (p.Thr1884Ser) c.5581A>T (p.Thr1861Ser) c.367A>T (p.Thr123Ser) c.6217A>T (p.Thr2073Ser) c.6028A>T (p.Thr2010Ser) c.4432A>T (p.Thr1478Ser) n.6568A>T | |
| 6 | g.51912406T>C | CA364439321 | PKHD1 | c.6292A>G (p.Thr2098Ala) c.5650A>G (p.Thr1884Ala) c.5581A>G (p.Thr1861Ala) c.367A>G (p.Thr123Ala) c.6217A>G (p.Thr2073Ala) c.6028A>G (p.Thr2010Ala) c.4432A>G (p.Thr1478Ala) n.6568A>G | gnomAD v4 |
| 6 | g.51912406T>G | CA364439319 | PKHD1 | c.6292A>C (p.Thr2098Pro) c.5650A>C (p.Thr1884Pro) c.5581A>C (p.Thr1861Pro) c.367A>C (p.Thr123Pro) c.6217A>C (p.Thr2073Pro) c.6028A>C (p.Thr2010Pro) c.4432A>C (p.Thr1478Pro) n.6568A>C | |
| 6 | g.51912407T>A | CA364439326 | PKHD1 | c.6291A>T (p.Glu2097Asp) c.5649A>T (p.Glu1883Asp) c.5580A>T (p.Glu1860Asp) c.366A>T (p.Glu122Asp) c.6216A>T (p.Glu2072Asp) c.6027A>T (p.Glu2009Asp) c.4431A>T (p.Glu1477Asp) n.6567A>T | |
| 6 | g.51912407T>C | CA450415936 | PKHD1 | c.6291A>G (p.Glu2097=) c.5649A>G (p.Glu1883=) c.5580A>G (p.Glu1860=) c.366A>G (p.Glu122=) c.6216A>G (p.Glu2072=) c.6027A>G (p.Glu2009=) c.4431A>G (p.Glu1477=) n.6567A>G | |
| 6 | g.51912407T>G | CA364439327 | PKHD1 | c.6291A>C (p.Glu2097Asp) c.5649A>C (p.Glu1883Asp) c.5580A>C (p.Glu1860Asp) c.366A>C (p.Glu122Asp) c.6216A>C (p.Glu2072Asp) c.6027A>C (p.Glu2009Asp) c.4431A>C (p.Glu1477Asp) n.6567A>C | |
| 6 | g.51912408T>A | CA364439331 | PKHD1 | c.6290A>T (p.Glu2097Val) c.5648A>T (p.Glu1883Val) c.5579A>T (p.Glu1860Val) c.365A>T (p.Glu122Val) c.6215A>T (p.Glu2072Val) c.6026A>T (p.Glu2009Val) c.4430A>T (p.Glu1477Val) n.6566A>T | |
| 6 | g.51912408T>C | CA364439333 | PKHD1 | c.6290A>G (p.Glu2097Gly) c.5648A>G (p.Glu1883Gly) c.5579A>G (p.Glu1860Gly) c.365A>G (p.Glu122Gly) c.6215A>G (p.Glu2072Gly) c.6026A>G (p.Glu2009Gly) c.4430A>G (p.Glu1477Gly) n.6566A>G | |
| 6 | g.51912408T>G | CA364439335 | PKHD1 | c.6290A>C (p.Glu2097Ala) c.5648A>C (p.Glu1883Ala) c.5579A>C (p.Glu1860Ala) c.365A>C (p.Glu122Ala) c.6215A>C (p.Glu2072Ala) c.6026A>C (p.Glu2009Ala) c.4430A>C (p.Glu1477Ala) n.6566A>C | |
| 6 | g.51912409C>A | CA364439339 | PKHD1 | c.6289G>T (p.Glu2097Ter) c.5647G>T (p.Glu1883Ter) c.5578G>T (p.Glu1860Ter) c.364G>T (p.Glu122Ter) c.6214G>T (p.Glu2072Ter) c.6025G>T (p.Glu2009Ter) c.4429G>T (p.Glu1477Ter) n.6565G>T | |
| 6 | g.51912409C>G | CA364439341 | PKHD1 | c.6289G>C (p.Glu2097Gln) c.5647G>C (p.Glu1883Gln) c.5578G>C (p.Glu1860Gln) c.364G>C (p.Glu122Gln) c.6214G>C (p.Glu2072Gln) c.6025G>C (p.Glu2009Gln) c.4429G>C (p.Glu1477Gln) n.6565G>C | |
| 6 | g.51912409C>T | CA364439344 | PKHD1 | c.6289G>A (p.Glu2097Lys) c.5647G>A (p.Glu1883Lys) c.5578G>A (p.Glu1860Lys) c.364G>A (p.Glu122Lys) c.6214G>A (p.Glu2072Lys) c.6025G>A (p.Glu2009Lys) c.4429G>A (p.Glu1477Lys) n.6565G>A | |
| 6 | g.51912410C>A | CA450415939 | PKHD1 | c.6288G>T (p.Val2096=) c.5646G>T (p.Val1882=) c.5577G>T (p.Val1859=) c.363G>T (p.Val121=) c.6213G>T (p.Val2071=) c.6024G>T (p.Val2008=) c.4428G>T (p.Val1476=) n.6564G>T | |
| 6 | g.51912410C= | CA1628583331 | PKHD1 | c.6288G= (p.Val2096=) c.5646G= (p.Val1882=) c.5577G= (p.Val1859=) c.363G= (p.Val121=) c.6213G= (p.Val2071=) c.6024G= (p.Val2008=) c.4428G= (p.Val1476=) n.6564G= | |
| 6 | g.51912410C>G | CA450415938 | PKHD1 | c.6288G>C (p.Val2096=) c.5646G>C (p.Val1882=) c.5577G>C (p.Val1859=) c.363G>C (p.Val121=) c.6213G>C (p.Val2071=) c.6024G>C (p.Val2008=) c.4428G>C (p.Val1476=) n.6564G>C | |
| 6 | g.51912410C>T | CA450415937 | PKHD1 | c.6288G>A (p.Val2096=) c.5646G>A (p.Val1882=) c.5577G>A (p.Val1859=) c.363G>A (p.Val121=) c.6213G>A (p.Val2071=) c.6024G>A (p.Val2008=) c.4428G>A (p.Val1476=) n.6564G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912411A= | CA1628583335 | PKHD1 | c.6287T= (p.Val2096=) c.5645T= (p.Val1882=) c.5576T= (p.Val1859=) c.362T= (p.Val121=) c.6212T= (p.Val2071=) c.6023T= (p.Val2008=) c.4427T= (p.Val1476=) n.6563T= | |
| 6 | g.51912411A>C | CA364439348 | PKHD1 | c.6287T>G (p.Val2096Gly) c.5645T>G (p.Val1882Gly) c.5576T>G (p.Val1859Gly) c.362T>G (p.Val121Gly) c.6212T>G (p.Val2071Gly) c.6023T>G (p.Val2008Gly) c.4427T>G (p.Val1476Gly) n.6563T>G | |
| 6 | g.51912411A>G | CA3852306 | PKHD1 | c.6287T>C (p.Val2096Ala) c.5645T>C (p.Val1882Ala) c.5576T>C (p.Val1859Ala) c.362T>C (p.Val121Ala) c.6212T>C (p.Val2071Ala) c.6023T>C (p.Val2008Ala) c.4427T>C (p.Val1476Ala) n.6563T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912411A>T | CA364439353 | PKHD1 | c.6287T>A (p.Val2096Glu) c.5645T>A (p.Val1882Glu) c.5576T>A (p.Val1859Glu) c.362T>A (p.Val121Glu) c.6212T>A (p.Val2071Glu) c.6023T>A (p.Val2008Glu) c.4427T>A (p.Val1476Glu) n.6563T>A | dbSNP |
| 6 | g.51912412C>A | CA364439358 | PKHD1 | c.6286G>T (p.Val2096Leu) c.5644G>T (p.Val1882Leu) c.5575G>T (p.Val1859Leu) c.361G>T (p.Val121Leu) c.6211G>T (p.Val2071Leu) c.6022G>T (p.Val2008Leu) c.4426G>T (p.Val1476Leu) n.6562G>T | |
| 6 | g.51912412C>G | CA364439361 | PKHD1 | c.6286G>C (p.Val2096Leu) c.5644G>C (p.Val1882Leu) c.5575G>C (p.Val1859Leu) c.361G>C (p.Val121Leu) c.6211G>C (p.Val2071Leu) c.6022G>C (p.Val2008Leu) c.4426G>C (p.Val1476Leu) n.6562G>C | |
| 6 | g.51912412C>T | CA364439363 | PKHD1 | c.6286G>A (p.Val2096Met) c.5644G>A (p.Val1882Met) c.5575G>A (p.Val1859Met) c.361G>A (p.Val121Met) c.6211G>A (p.Val2071Met) c.6022G>A (p.Val2008Met) c.4426G>A (p.Val1476Met) n.6562G>A | |
| 6 | g.51912413del | CA2695198867 | PKHD1 | c.6285del (p.Val2096TrpfsTer15) c.5643del (p.Val1882TrpfsTer15) c.5574del (p.Val1859TrpfsTer15) c.360del (p.Val121TrpfsTer15) c.6210del (p.Val2071TrpfsTer15) c.6021del (p.Val2008TrpfsTer15) c.4425del (p.Val1476TrpfsTer15) n.6561del | ClinVar |
| 6 | g.51912413A>C | CA450415940 | PKHD1 | c.6285T>G (p.Thr2095=) c.5643T>G (p.Thr1881=) c.5574T>G (p.Thr1858=) c.360T>G (p.Thr120=) c.6210T>G (p.Thr2070=) c.6021T>G (p.Thr2007=) c.4425T>G (p.Thr1475=) n.6561T>G | |
| 6 | g.51912413A>G | CA450415941 | PKHD1 | c.6285T>C (p.Thr2095=) c.5643T>C (p.Thr1881=) c.5574T>C (p.Thr1858=) c.360T>C (p.Thr120=) c.6210T>C (p.Thr2070=) c.6021T>C (p.Thr2007=) c.4425T>C (p.Thr1475=) n.6561T>C | |
| 6 | g.51912413A>T | CA450415942 | PKHD1 | c.6285T>A (p.Thr2095=) c.5643T>A (p.Thr1881=) c.5574T>A (p.Thr1858=) c.360T>A (p.Thr120=) c.6210T>A (p.Thr2070=) c.6021T>A (p.Thr2007=) c.4425T>A (p.Thr1475=) n.6561T>A | |
| 6 | g.51912413_51912425delinsTC | CA2697553475 | PKHD1 | c.6273_6285delinsGA (p.Glu2092SerfsTer12) c.5631_5643delinsGA (p.Glu1878SerfsTer12) c.5562_5574delinsGA (p.Glu1855SerfsTer12) c.348_360delinsGA (p.Glu117SerfsTer12) c.6198_6210delinsGA (p.Glu2067SerfsTer12) c.6009_6021delinsGA (p.Glu2004SerfsTer12) c.4413_4425delinsGA (p.Glu1472SerfsTer12) n.6549_6561delinsGA | ClinVar |
| 6 | g.51912413_51912425delinsCTC | CA2695198868 | PKHD1 | c.6273_6285delinsGAG (p.Glu2092ArgfsTer16) c.5631_5643delinsGAG (p.Glu1878ArgfsTer16) c.5562_5574delinsGAG (p.Glu1855ArgfsTer16) c.348_360delinsGAG (p.Glu117ArgfsTer16) c.6198_6210delinsGAG (p.Glu2067ArgfsTer16) c.6009_6021delinsGAG (p.Glu2004ArgfsTer16) c.4413_4425delinsGAG (p.Glu1472ArgfsTer16) n.6549_6561delinsGAG | ClinVar |
| 6 | g.51912413_51912414insCATCT | CA2580075497 | PKHD1 | c.6284_6285insAGATG (p.Val2096AspfsTer17) c.5642_5643insAGATG (p.Val1882AspfsTer17) c.5573_5574insAGATG (p.Val1859AspfsTer17) c.359_360insAGATG (p.Val121AspfsTer17) c.6209_6210insAGATG (p.Val2071AspfsTer17) c.6020_6021insAGATG (p.Val2008AspfsTer17) c.4424_4425insAGATG (p.Val1476AspfsTer17) n.6560_6561insAGATG | ClinVar |
| 6 | g.51912414G>A | CA364439373 | PKHD1 | c.6284C>T (p.Thr2095Ile) c.5642C>T (p.Thr1881Ile) c.5573C>T (p.Thr1858Ile) c.359C>T (p.Thr120Ile) c.6209C>T (p.Thr2070Ile) c.6020C>T (p.Thr2007Ile) c.4424C>T (p.Thr1475Ile) n.6560C>T | dbSNP |
| 6 | g.51912414G>C | CA364439372 | PKHD1 | c.6284C>G (p.Thr2095Ser) c.5642C>G (p.Thr1881Ser) c.5573C>G (p.Thr1858Ser) c.359C>G (p.Thr120Ser) c.6209C>G (p.Thr2070Ser) c.6020C>G (p.Thr2007Ser) c.4424C>G (p.Thr1475Ser) n.6560C>G | |
| 6 | g.51912414G= | CA1628583338 | PKHD1 | c.6284C= (p.Thr2095=) c.5642C= (p.Thr1881=) c.5573C= (p.Thr1858=) c.359C= (p.Thr120=) c.6209C= (p.Thr2070=) c.6020C= (p.Thr2007=) c.4424C= (p.Thr1475=) n.6560C= | |
| 6 | g.51912414G>T | CA364439369 | PKHD1 | c.6284C>A (p.Thr2095Asn) c.5642C>A (p.Thr1881Asn) c.5573C>A (p.Thr1858Asn) c.359C>A (p.Thr120Asn) c.6209C>A (p.Thr2070Asn) c.6020C>A (p.Thr2007Asn) c.4424C>A (p.Thr1475Asn) n.6560C>A | |
| 6 | g.51912415T>A | CA364439377 | PKHD1 | c.6283A>T (p.Thr2095Ser) c.5641A>T (p.Thr1881Ser) c.5572A>T (p.Thr1858Ser) c.358A>T (p.Thr120Ser) c.6208A>T (p.Thr2070Ser) c.6019A>T (p.Thr2007Ser) c.4423A>T (p.Thr1475Ser) n.6559A>T | |
| 6 | g.51912415T>C | CA364439382 | PKHD1 | c.6283A>G (p.Thr2095Ala) c.5641A>G (p.Thr1881Ala) c.5572A>G (p.Thr1858Ala) c.358A>G (p.Thr120Ala) c.6208A>G (p.Thr2070Ala) c.6019A>G (p.Thr2007Ala) c.4423A>G (p.Thr1475Ala) n.6559A>G | |
| 6 | g.51912415T>G | CA364439385 | PKHD1 | c.6283A>C (p.Thr2095Pro) c.5641A>C (p.Thr1881Pro) c.5572A>C (p.Thr1858Pro) c.358A>C (p.Thr120Pro) c.6208A>C (p.Thr2070Pro) c.6019A>C (p.Thr2007Pro) c.4423A>C (p.Thr1475Pro) n.6559A>C | gnomAD v4 |
| 6 | g.51912416G>A | CA138910823 | PKHD1 | c.6282C>T (p.Val2094=) c.5640C>T (p.Val1880=) c.5571C>T (p.Val1857=) c.357C>T (p.Val119=) c.6207C>T (p.Val2069=) c.6018C>T (p.Val2006=) c.4422C>T (p.Val1474=) n.6558C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912416G>C | CA450415944 | PKHD1 | c.6282C>G (p.Val2094=) c.5640C>G (p.Val1880=) c.5571C>G (p.Val1857=) c.357C>G (p.Val119=) c.6207C>G (p.Val2069=) c.6018C>G (p.Val2006=) c.4422C>G (p.Val1474=) n.6558C>G | |
| 6 | g.51912416G= | CA1628583342 | PKHD1 | c.6282C= (p.Val2094=) c.5640C= (p.Val1880=) c.5571C= (p.Val1857=) c.357C= (p.Val119=) c.6207C= (p.Val2069=) c.6018C= (p.Val2006=) c.4422C= (p.Val1474=) n.6558C= | |
| 6 | g.51912416G>T | CA450415943 | PKHD1 | c.6282C>A (p.Val2094=) c.5640C>A (p.Val1880=) c.5571C>A (p.Val1857=) c.357C>A (p.Val119=) c.6207C>A (p.Val2069=) c.6018C>A (p.Val2006=) c.4422C>A (p.Val1474=) n.6558C>A | |
| 6 | g.51912417A>C | CA364439390 | PKHD1 | c.6281T>G (p.Val2094Gly) c.5639T>G (p.Val1880Gly) c.5570T>G (p.Val1857Gly) c.356T>G (p.Val119Gly) c.6206T>G (p.Val2069Gly) c.6017T>G (p.Val2006Gly) c.4421T>G (p.Val1474Gly) n.6557T>G | |
| 6 | g.51912417A>G | CA364439393 | PKHD1 | c.6281T>C (p.Val2094Ala) c.5639T>C (p.Val1880Ala) c.5570T>C (p.Val1857Ala) c.356T>C (p.Val119Ala) c.6206T>C (p.Val2069Ala) c.6017T>C (p.Val2006Ala) c.4421T>C (p.Val1474Ala) n.6557T>C | |
| 6 | g.51912417A>T | CA364439396 | PKHD1 | c.6281T>A (p.Val2094Asp) c.5639T>A (p.Val1880Asp) c.5570T>A (p.Val1857Asp) c.356T>A (p.Val119Asp) c.6206T>A (p.Val2069Asp) c.6017T>A (p.Val2006Asp) c.4421T>A (p.Val1474Asp) n.6557T>A | |
| 6 | g.51912418C>A | CA364439399 | PKHD1 | c.6280G>T (p.Val2094Phe) c.5638G>T (p.Val1880Phe) c.5569G>T (p.Val1857Phe) c.355G>T (p.Val119Phe) c.6205G>T (p.Val2069Phe) c.6016G>T (p.Val2006Phe) c.4420G>T (p.Val1474Phe) n.6556G>T | |
| 6 | g.51912418C= | CA1628583348 | PKHD1 | c.6280G= (p.Val2094=) c.5638G= (p.Val1880=) c.5569G= (p.Val1857=) c.355G= (p.Val119=) c.6205G= (p.Val2069=) c.6016G= (p.Val2006=) c.4420G= (p.Val1474=) n.6556G= | |
| 6 | g.51912418C>G | CA364439402 | PKHD1 | c.6280G>C (p.Val2094Leu) c.5638G>C (p.Val1880Leu) c.5569G>C (p.Val1857Leu) c.355G>C (p.Val119Leu) c.6205G>C (p.Val2069Leu) c.6016G>C (p.Val2006Leu) c.4420G>C (p.Val1474Leu) n.6556G>C | |
| 6 | g.51912418C>T | CA364439405 | PKHD1 | c.6280G>A (p.Val2094Ile) c.5638G>A (p.Val1880Ile) c.5569G>A (p.Val1857Ile) c.355G>A (p.Val119Ile) c.6205G>A (p.Val2069Ile) c.6016G>A (p.Val2006Ile) c.4420G>A (p.Val1474Ile) n.6556G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912419A>C | CA364439409 | PKHD1 | c.6279T>G (p.Ile2093Met) c.5637T>G (p.Ile1879Met) c.5568T>G (p.Ile1856Met) c.354T>G (p.Ile118Met) c.6204T>G (p.Ile2068Met) c.6015T>G (p.Ile2005Met) c.4419T>G (p.Ile1473Met) n.6555T>G | gnomAD v4 |
| 6 | g.51912419A>G | CA450415945 | PKHD1 | c.6279T>C (p.Ile2093=) c.5637T>C (p.Ile1879=) c.5568T>C (p.Ile1856=) c.354T>C (p.Ile118=) c.6204T>C (p.Ile2068=) c.6015T>C (p.Ile2005=) c.4419T>C (p.Ile1473=) n.6555T>C | |
| 6 | g.51912419A>T | CA450415946 | PKHD1 | c.6279T>A (p.Ile2093=) c.5637T>A (p.Ile1879=) c.5568T>A (p.Ile1856=) c.354T>A (p.Ile118=) c.6204T>A (p.Ile2068=) c.6015T>A (p.Ile2005=) c.4419T>A (p.Ile1473=) n.6555T>A | |
| 6 | g.51912420A= | CA1628583351 | PKHD1 | c.6278T= (p.Ile2093=) c.5636T= (p.Ile1879=) c.5567T= (p.Ile1856=) c.353T= (p.Ile118=) c.6203T= (p.Ile2068=) c.6014T= (p.Ile2005=) c.4418T= (p.Ile1473=) n.6554T= | |
| 6 | g.51912420A>C | CA364439412 | PKHD1 | c.6278T>G (p.Ile2093Ser) c.5636T>G (p.Ile1879Ser) c.5567T>G (p.Ile1856Ser) c.353T>G (p.Ile118Ser) c.6203T>G (p.Ile2068Ser) c.6014T>G (p.Ile2005Ser) c.4418T>G (p.Ile1473Ser) n.6554T>G | |
| 6 | g.51912420A>G | CA364439415 | PKHD1 | c.6278T>C (p.Ile2093Thr) c.5636T>C (p.Ile1879Thr) c.5567T>C (p.Ile1856Thr) c.353T>C (p.Ile118Thr) c.6203T>C (p.Ile2068Thr) c.6014T>C (p.Ile2005Thr) c.4418T>C (p.Ile1473Thr) n.6554T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912420A>T | CA364439416 | PKHD1 | c.6278T>A (p.Ile2093Asn) c.5636T>A (p.Ile1879Asn) c.5567T>A (p.Ile1856Asn) c.353T>A (p.Ile118Asn) c.6203T>A (p.Ile2068Asn) c.6014T>A (p.Ile2005Asn) c.4418T>A (p.Ile1473Asn) n.6554T>A | gnomAD v4 |
| 6 | g.51912421T>A | CA364439425 | PKHD1 | c.6277A>T (p.Ile2093Phe) c.5635A>T (p.Ile1879Phe) c.5566A>T (p.Ile1856Phe) c.352A>T (p.Ile118Phe) c.6202A>T (p.Ile2068Phe) c.6013A>T (p.Ile2005Phe) c.4417A>T (p.Ile1473Phe) n.6553A>T | |
| 6 | g.51912421T>C | CA364439422 | PKHD1 | c.6277A>G (p.Ile2093Val) c.5635A>G (p.Ile1879Val) c.5566A>G (p.Ile1856Val) c.352A>G (p.Ile118Val) c.6202A>G (p.Ile2068Val) c.6013A>G (p.Ile2005Val) c.4417A>G (p.Ile1473Val) n.6553A>G | |
| 6 | g.51912421T>G | CA364439419 | PKHD1 | c.6277A>C (p.Ile2093Leu) c.5635A>C (p.Ile1879Leu) c.5566A>C (p.Ile1856Leu) c.352A>C (p.Ile118Leu) c.6202A>C (p.Ile2068Leu) c.6013A>C (p.Ile2005Leu) c.4417A>C (p.Ile1473Leu) n.6553A>C | |
| 6 | g.51912422C>A | CA364439430 | PKHD1 | c.6276G>T (p.Glu2092Asp) c.5634G>T (p.Glu1878Asp) c.5565G>T (p.Glu1855Asp) c.351G>T (p.Glu117Asp) c.6201G>T (p.Glu2067Asp) c.6012G>T (p.Glu2004Asp) c.4416G>T (p.Glu1472Asp) n.6552G>T | COSMIC COSMIC |
| 6 | g.51912422C>G | CA364439434 | PKHD1 | c.6276G>C (p.Glu2092Asp) c.5634G>C (p.Glu1878Asp) c.5565G>C (p.Glu1855Asp) c.351G>C (p.Glu117Asp) c.6201G>C (p.Glu2067Asp) c.6012G>C (p.Glu2004Asp) c.4416G>C (p.Glu1472Asp) n.6552G>C | |
| 6 | g.51912422C>T | CA450415947 | PKHD1 | c.6276G>A (p.Glu2092=) c.5634G>A (p.Glu1878=) c.5565G>A (p.Glu1855=) c.351G>A (p.Glu117=) c.6201G>A (p.Glu2067=) c.6012G>A (p.Glu2004=) c.4416G>A (p.Glu1472=) n.6552G>A | |
| 6 | g.51912423T>A | CA364439438 | PKHD1 | c.6275A>T (p.Glu2092Val) c.5633A>T (p.Glu1878Val) c.5564A>T (p.Glu1855Val) c.350A>T (p.Glu117Val) c.6200A>T (p.Glu2067Val) c.6011A>T (p.Glu2004Val) c.4415A>T (p.Glu1472Val) n.6551A>T | |
| 6 | g.51912423T>C | CA364439441 | PKHD1 | c.6275A>G (p.Glu2092Gly) c.5633A>G (p.Glu1878Gly) c.5564A>G (p.Glu1855Gly) c.350A>G (p.Glu117Gly) c.6200A>G (p.Glu2067Gly) c.6011A>G (p.Glu2004Gly) c.4415A>G (p.Glu1472Gly) n.6551A>G | |
| 6 | g.51912423T>G | CA364439445 | PKHD1 | c.6275A>C (p.Glu2092Ala) c.5633A>C (p.Glu1878Ala) c.5564A>C (p.Glu1855Ala) c.350A>C (p.Glu117Ala) c.6200A>C (p.Glu2067Ala) c.6011A>C (p.Glu2004Ala) c.4415A>C (p.Glu1472Ala) n.6551A>C | |
| 6 | g.51912424C>A | CA364439448 | PKHD1 | c.6274G>T (p.Glu2092Ter) c.5632G>T (p.Glu1878Ter) c.5563G>T (p.Glu1855Ter) c.349G>T (p.Glu117Ter) c.6199G>T (p.Glu2067Ter) c.6010G>T (p.Glu2004Ter) c.4414G>T (p.Glu1472Ter) n.6550G>T | |
| 6 | g.51912424C>G | CA364439451 | PKHD1 | c.6274G>C (p.Glu2092Gln) c.5632G>C (p.Glu1878Gln) c.5563G>C (p.Glu1855Gln) c.349G>C (p.Glu117Gln) c.6199G>C (p.Glu2067Gln) c.6010G>C (p.Glu2004Gln) c.4414G>C (p.Glu1472Gln) n.6550G>C | |
| 6 | g.51912424C>T | CA364439454 | PKHD1 | c.6274G>A (p.Glu2092Lys) c.5632G>A (p.Glu1878Lys) c.5563G>A (p.Glu1855Lys) c.349G>A (p.Glu117Lys) c.6199G>A (p.Glu2067Lys) c.6010G>A (p.Glu2004Lys) c.4414G>A (p.Glu1472Lys) n.6550G>A | |
| 6 | g.51912425T>A | CA364439458 | PKHD1 | c.6273A>T (p.Glu2091Asp) c.5631A>T (p.Glu1877Asp) c.5562A>T (p.Glu1854Asp) c.348A>T (p.Glu116Asp) c.6198A>T (p.Glu2066Asp) c.6009A>T (p.Glu2003Asp) c.4413A>T (p.Glu1471Asp) n.6549A>T | |
| 6 | g.51912425T>C | CA450415948 | PKHD1 | c.6273A>G (p.Glu2091=) c.5631A>G (p.Glu1877=) c.5562A>G (p.Glu1854=) c.348A>G (p.Glu116=) c.6198A>G (p.Glu2066=) c.6009A>G (p.Glu2003=) c.4413A>G (p.Glu1471=) n.6549A>G | |
| 6 | g.51912425T>G | CA364439460 | PKHD1 | c.6273A>C (p.Glu2091Asp) c.5631A>C (p.Glu1877Asp) c.5562A>C (p.Glu1854Asp) c.348A>C (p.Glu116Asp) c.6198A>C (p.Glu2066Asp) c.6009A>C (p.Glu2003Asp) c.4413A>C (p.Glu1471Asp) n.6549A>C | gnomAD v4 |
| 6 | g.51912426T>A | CA364439464 | PKHD1 | c.6272A>T (p.Glu2091Val) c.5630A>T (p.Glu1877Val) c.5561A>T (p.Glu1854Val) c.347A>T (p.Glu116Val) c.6197A>T (p.Glu2066Val) c.6008A>T (p.Glu2003Val) c.4412A>T (p.Glu1471Val) n.6548A>T | |
| 6 | g.51912426T>C | CA364439467 | PKHD1 | c.6272A>G (p.Glu2091Gly) c.5630A>G (p.Glu1877Gly) c.5561A>G (p.Glu1854Gly) c.347A>G (p.Glu116Gly) c.6197A>G (p.Glu2066Gly) c.6008A>G (p.Glu2003Gly) c.4412A>G (p.Glu1471Gly) n.6548A>G | |
| 6 | g.51912426T>G | CA364439470 | PKHD1 | c.6272A>C (p.Glu2091Ala) c.5630A>C (p.Glu1877Ala) c.5561A>C (p.Glu1854Ala) c.347A>C (p.Glu116Ala) c.6197A>C (p.Glu2066Ala) c.6008A>C (p.Glu2003Ala) c.4412A>C (p.Glu1471Ala) n.6548A>C | |
| 6 | g.51912427C>A | CA364439480 | PKHD1 | c.6271G>T (p.Glu2091Ter) c.5629G>T (p.Glu1877Ter) c.5560G>T (p.Glu1854Ter) c.346G>T (p.Glu116Ter) c.6196G>T (p.Glu2066Ter) c.6007G>T (p.Glu2003Ter) c.4411G>T (p.Glu1471Ter) n.6547G>T | |
| 6 | g.51912427C>G | CA364439478 | PKHD1 | c.6271G>C (p.Glu2091Gln) c.5629G>C (p.Glu1877Gln) c.5560G>C (p.Glu1854Gln) c.346G>C (p.Glu116Gln) c.6196G>C (p.Glu2066Gln) c.6007G>C (p.Glu2003Gln) c.4411G>C (p.Glu1471Gln) n.6547G>C | |
| 6 | g.51912427C>T | CA364439476 | PKHD1 | c.6271G>A (p.Glu2091Lys) c.5629G>A (p.Glu1877Lys) c.5560G>A (p.Glu1854Lys) c.346G>A (p.Glu116Lys) c.6196G>A (p.Glu2066Lys) c.6007G>A (p.Glu2003Lys) c.4411G>A (p.Glu1471Lys) n.6547G>A | COSMIC COSMIC |
| 6 | g.51912428C>A | CA364439483 | PKHD1 | c.6270G>T (p.Met2090Ile) c.5628G>T (p.Met1876Ile) c.5559G>T (p.Met1853Ile) c.345G>T (p.Met115Ile) c.6195G>T (p.Met2065Ile) c.6006G>T (p.Met2002Ile) c.4410G>T (p.Met1470Ile) n.6546G>T | |
| 6 | g.51912428C>G | CA364439488 | PKHD1 | c.6270G>C (p.Met2090Ile) c.5628G>C (p.Met1876Ile) c.5559G>C (p.Met1853Ile) c.345G>C (p.Met115Ile) c.6195G>C (p.Met2065Ile) c.6006G>C (p.Met2002Ile) c.4410G>C (p.Met1470Ile) n.6546G>C | |
| 6 | g.51912428C>T | CA364439485 | PKHD1 | c.6270G>A (p.Met2090Ile) c.5628G>A (p.Met1876Ile) c.5559G>A (p.Met1853Ile) c.345G>A (p.Met115Ile) c.6195G>A (p.Met2065Ile) c.6006G>A (p.Met2002Ile) c.4410G>A (p.Met1470Ile) n.6546G>A | |
| 6 | g.51912429A>C | CA364439491 | PKHD1 | c.6269T>G (p.Met2090Arg) c.5627T>G (p.Met1876Arg) c.5558T>G (p.Met1853Arg) c.344T>G (p.Met115Arg) c.6194T>G (p.Met2065Arg) c.6005T>G (p.Met2002Arg) c.4409T>G (p.Met1470Arg) n.6545T>G | |
| 6 | g.51912429A>G | CA364439493 | PKHD1 | c.6269T>C (p.Met2090Thr) c.5627T>C (p.Met1876Thr) c.5558T>C (p.Met1853Thr) c.344T>C (p.Met115Thr) c.6194T>C (p.Met2065Thr) c.6005T>C (p.Met2002Thr) c.4409T>C (p.Met1470Thr) n.6545T>C | |
| 6 | g.51912429A>T | CA364439495 | PKHD1 | c.6269T>A (p.Met2090Lys) c.5627T>A (p.Met1876Lys) c.5558T>A (p.Met1853Lys) c.344T>A (p.Met115Lys) c.6194T>A (p.Met2065Lys) c.6005T>A (p.Met2002Lys) c.4409T>A (p.Met1470Lys) n.6545T>A | |
| 6 | g.51912430T>A | CA364439498 | PKHD1 | c.6268A>T (p.Met2090Leu) c.5626A>T (p.Met1876Leu) c.5557A>T (p.Met1853Leu) c.343A>T (p.Met115Leu) c.6193A>T (p.Met2065Leu) c.6004A>T (p.Met2002Leu) c.4408A>T (p.Met1470Leu) n.6544A>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912430T>C | CA364439500 | PKHD1 | c.6268A>G (p.Met2090Val) c.5626A>G (p.Met1876Val) c.5557A>G (p.Met1853Val) c.343A>G (p.Met115Val) c.6193A>G (p.Met2065Val) c.6004A>G (p.Met2002Val) c.4408A>G (p.Met1470Val) n.6544A>G | gnomAD v4 |
| 6 | g.51912430T>G | CA364439502 | PKHD1 | c.6268A>C (p.Met2090Leu) c.5626A>C (p.Met1876Leu) c.5557A>C (p.Met1853Leu) c.343A>C (p.Met115Leu) c.6193A>C (p.Met2065Leu) c.6004A>C (p.Met2002Leu) c.4408A>C (p.Met1470Leu) n.6544A>C | |
| 6 | g.51912430T= | CA1628583353 | PKHD1 | c.6268A= (p.Met2090=) c.5626A= (p.Met1876=) c.5557A= (p.Met1853=) c.343A= (p.Met115=) c.6193A= (p.Met2065=) c.6004A= (p.Met2002=) c.4408A= (p.Met1470=) n.6544A= | |
| 6 | g.51912431C>A | CA450415949 | PKHD1 | c.6267G>T (p.Pro2089=) c.5625G>T (p.Pro1875=) c.5556G>T (p.Pro1852=) c.342G>T (p.Pro114=) c.6192G>T (p.Pro2064=) c.6003G>T (p.Pro2001=) c.4407G>T (p.Pro1469=) n.6543G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912431C= | CA1628583360 | PKHD1 | c.6267G= (p.Pro2089=) c.5625G= (p.Pro1875=) c.5556G= (p.Pro1852=) c.342G= (p.Pro114=) c.6192G= (p.Pro2064=) c.6003G= (p.Pro2001=) c.4407G= (p.Pro1469=) n.6543G= | |
| 6 | g.51912431C>G | CA450415950 | PKHD1 | c.6267G>C (p.Pro2089=) c.5625G>C (p.Pro1875=) c.5556G>C (p.Pro1852=) c.342G>C (p.Pro114=) c.6192G>C (p.Pro2064=) c.6003G>C (p.Pro2001=) c.4407G>C (p.Pro1469=) n.6543G>C | |
| 6 | g.51912431C>T | CA450415951 | PKHD1 | c.6267G>A (p.Pro2089=) c.5625G>A (p.Pro1875=) c.5556G>A (p.Pro1852=) c.342G>A (p.Pro114=) c.6192G>A (p.Pro2064=) c.6003G>A (p.Pro2001=) c.4407G>A (p.Pro1469=) n.6543G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912432G>A | CA3852307 | PKHD1 | c.6266C>T (p.Pro2089Leu) c.5624C>T (p.Pro1875Leu) c.5555C>T (p.Pro1852Leu) c.341C>T (p.Pro114Leu) c.6191C>T (p.Pro2064Leu) c.6002C>T (p.Pro2001Leu) c.4406C>T (p.Pro1469Leu) n.6542C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912432G>C | CA364439506 | PKHD1 | c.6266C>G (p.Pro2089Arg) c.5624C>G (p.Pro1875Arg) c.5555C>G (p.Pro1852Arg) c.341C>G (p.Pro114Arg) c.6191C>G (p.Pro2064Arg) c.6002C>G (p.Pro2001Arg) c.4406C>G (p.Pro1469Arg) n.6542C>G | |
| 6 | g.51912432G= | CA1628583364 | PKHD1 | c.6266C= (p.Pro2089=) c.5624C= (p.Pro1875=) c.5555C= (p.Pro1852=) c.341C= (p.Pro114=) c.6191C= (p.Pro2064=) c.6002C= (p.Pro2001=) c.4406C= (p.Pro1469=) n.6542C= | |
| 6 | g.51912432G>T | CA364439509 | PKHD1 | c.6266C>A (p.Pro2089Gln) c.5624C>A (p.Pro1875Gln) c.5555C>A (p.Pro1852Gln) c.341C>A (p.Pro114Gln) c.6191C>A (p.Pro2064Gln) c.6002C>A (p.Pro2001Gln) c.4406C>A (p.Pro1469Gln) n.6542C>A | |
| 6 | g.51912433G>A | CA364439513 | PKHD1 | c.6265C>T (p.Pro2089Ser) c.5623C>T (p.Pro1875Ser) c.5554C>T (p.Pro1852Ser) c.340C>T (p.Pro114Ser) c.6190C>T (p.Pro2064Ser) c.6001C>T (p.Pro2001Ser) c.4405C>T (p.Pro1469Ser) n.6541C>T | |
| 6 | g.51912433G>C | CA364439515 | PKHD1 | c.6265C>G (p.Pro2089Ala) c.5623C>G (p.Pro1875Ala) c.5554C>G (p.Pro1852Ala) c.340C>G (p.Pro114Ala) c.6190C>G (p.Pro2064Ala) c.6001C>G (p.Pro2001Ala) c.4405C>G (p.Pro1469Ala) n.6541C>G | |
| 6 | g.51912433G>T | CA364439517 | PKHD1 | c.6265C>A (p.Pro2089Thr) c.5623C>A (p.Pro1875Thr) c.5554C>A (p.Pro1852Thr) c.340C>A (p.Pro114Thr) c.6190C>A (p.Pro2064Thr) c.6001C>A (p.Pro2001Thr) c.4405C>A (p.Pro1469Thr) n.6541C>A | |
| 6 | g.51912434T>A | CA364439521 | PKHD1 | c.6264A>T (p.Lys2088Asn) c.5622A>T (p.Lys1874Asn) c.5553A>T (p.Lys1851Asn) c.339A>T (p.Lys113Asn) c.6189A>T (p.Lys2063Asn) c.6000A>T (p.Lys2000Asn) c.4404A>T (p.Lys1468Asn) n.6540A>T | |
| 6 | g.51912434T>C | CA450415952 | PKHD1 | c.6264A>G (p.Lys2088=) c.5622A>G (p.Lys1874=) c.5553A>G (p.Lys1851=) c.339A>G (p.Lys113=) c.6189A>G (p.Lys2063=) c.6000A>G (p.Lys2000=) c.4404A>G (p.Lys1468=) n.6540A>G | gnomAD v4 |
| 6 | g.51912434T>G | CA364439519 | PKHD1 | c.6264A>C (p.Lys2088Asn) c.5622A>C (p.Lys1874Asn) c.5553A>C (p.Lys1851Asn) c.339A>C (p.Lys113Asn) c.6189A>C (p.Lys2063Asn) c.6000A>C (p.Lys2000Asn) c.4404A>C (p.Lys1468Asn) n.6540A>C | |
| 6 | g.51912436del | CA2679081920 | PKHD1 | c.6264del (p.Lys2088AsnfsTer23) c.5622del (p.Lys1874AsnfsTer23) c.5553del (p.Lys1851AsnfsTer23) c.339del (p.Lys113AsnfsTer23) c.6189del (p.Lys2063AsnfsTer23) c.6000del (p.Lys2000AsnfsTer23) c.4404del (p.Lys1468AsnfsTer23) n.6540del | gnomAD v4 |
| 6 | g.51912435T>A | CA364439524 | PKHD1 | c.6263A>T (p.Lys2088Ile) c.5621A>T (p.Lys1874Ile) c.5552A>T (p.Lys1851Ile) c.338A>T (p.Lys113Ile) c.6188A>T (p.Lys2063Ile) c.5999A>T (p.Lys2000Ile) c.4403A>T (p.Lys1468Ile) n.6539A>T | gnomAD v4 COSMIC COSMIC |
| 6 | g.51912435T>C | CA3852308 | PKHD1 | c.6263A>G (p.Lys2088Arg) c.5621A>G (p.Lys1874Arg) c.5552A>G (p.Lys1851Arg) c.338A>G (p.Lys113Arg) c.6188A>G (p.Lys2063Arg) c.5999A>G (p.Lys2000Arg) c.4403A>G (p.Lys1468Arg) n.6539A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51912435T>G | CA138910834 | PKHD1 | c.6263A>C (p.Lys2088Thr) c.5621A>C (p.Lys1874Thr) c.5552A>C (p.Lys1851Thr) c.338A>C (p.Lys113Thr) c.6188A>C (p.Lys2063Thr) c.5999A>C (p.Lys2000Thr) c.4403A>C (p.Lys1468Thr) n.6539A>C | dbSNP gnomAD v4 |
| 6 | g.51912435T= | CA1628583368 | PKHD1 | c.6263A= (p.Lys2088=) c.5621A= (p.Lys1874=) c.5552A= (p.Lys1851=) c.338A= (p.Lys113=) c.6188A= (p.Lys2063=) c.5999A= (p.Lys2000=) c.4403A= (p.Lys1468=) n.6539A= | |
| 6 | g.51912436T>A | CA364439529 | PKHD1 | c.6262A>T (p.Lys2088Ter) c.5620A>T (p.Lys1874Ter) c.5551A>T (p.Lys1851Ter) c.337A>T (p.Lys113Ter) c.6187A>T (p.Lys2063Ter) c.5998A>T (p.Lys2000Ter) c.4402A>T (p.Lys1468Ter) n.6538A>T | |
| 6 | g.51912436T>C | CA364439531 | PKHD1 | c.6262A>G (p.Lys2088Glu) c.5620A>G (p.Lys1874Glu) c.5551A>G (p.Lys1851Glu) c.337A>G (p.Lys113Glu) c.6187A>G (p.Lys2063Glu) c.5998A>G (p.Lys2000Glu) c.4402A>G (p.Lys1468Glu) n.6538A>G | |
| 6 | g.51912436T>G | CA364439533 | PKHD1 | c.6262A>C (p.Lys2088Gln) c.5620A>C (p.Lys1874Gln) c.5551A>C (p.Lys1851Gln) c.337A>C (p.Lys113Gln) c.6187A>C (p.Lys2063Gln) c.5998A>C (p.Lys2000Gln) c.4402A>C (p.Lys1468Gln) n.6538A>C | |
| 6 | g.51912437G>A | CA450415953 | PKHD1 | c.6261C>T (p.Ala2087=) c.5619C>T (p.Ala1873=) c.5550C>T (p.Ala1850=) c.336C>T (p.Ala112=) c.6186C>T (p.Ala2062=) c.5997C>T (p.Ala1999=) c.4401C>T (p.Ala1467=) n.6537C>T | |
| 6 | g.51912437G>C | CA450415955 | PKHD1 | c.6261C>G (p.Ala2087=) c.5619C>G (p.Ala1873=) c.5550C>G (p.Ala1850=) c.336C>G (p.Ala112=) c.6186C>G (p.Ala2062=) c.5997C>G (p.Ala1999=) c.4401C>G (p.Ala1467=) n.6537C>G | |
| 6 | g.51912437G>T | CA450415954 | PKHD1 | c.6261C>A (p.Ala2087=) c.5619C>A (p.Ala1873=) c.5550C>A (p.Ala1850=) c.336C>A (p.Ala112=) c.6186C>A (p.Ala2062=) c.5997C>A (p.Ala1999=) c.4401C>A (p.Ala1467=) n.6537C>A | |
| 6 | g.51912438G>A | CA364439536 | PKHD1 | c.6260C>T (p.Ala2087Val) c.5618C>T (p.Ala1873Val) c.5549C>T (p.Ala1850Val) c.335C>T (p.Ala112Val) c.6185C>T (p.Ala2062Val) c.5996C>T (p.Ala1999Val) c.4400C>T (p.Ala1467Val) n.6536C>T | |
| 6 | g.51912438G>C | CA364439538 | PKHD1 | c.6260C>G (p.Ala2087Gly) c.5618C>G (p.Ala1873Gly) c.5549C>G (p.Ala1850Gly) c.335C>G (p.Ala112Gly) c.6185C>G (p.Ala2062Gly) c.5996C>G (p.Ala1999Gly) c.4400C>G (p.Ala1467Gly) n.6536C>G | |
| 6 | g.51912438G= | CA1628583373 | PKHD1 | c.6260C= (p.Ala2087=) c.5618C= (p.Ala1873=) c.5549C= (p.Ala1850=) c.335C= (p.Ala112=) c.6185C= (p.Ala2062=) c.5996C= (p.Ala1999=) c.4400C= (p.Ala1467=) n.6536C= | |
| 6 | g.51912438G>T | CA364439539 | PKHD1 | c.6260C>A (p.Ala2087Asp) c.5618C>A (p.Ala1873Asp) c.5549C>A (p.Ala1850Asp) c.335C>A (p.Ala112Asp) c.6185C>A (p.Ala2062Asp) c.5996C>A (p.Ala1999Asp) c.4400C>A (p.Ala1467Asp) n.6536C>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51912439C>A | CA364439542 | PKHD1 | c.6259G>T (p.Ala2087Ser) c.5617G>T (p.Ala1873Ser) c.5548G>T (p.Ala1850Ser) c.334G>T (p.Ala112Ser) c.6184G>T (p.Ala2062Ser) c.5995G>T (p.Ala1999Ser) c.4399G>T (p.Ala1467Ser) n.6535G>T | |
| 6 | g.51912439C>G | CA364439544 | PKHD1 | c.6259G>C (p.Ala2087Pro) c.5617G>C (p.Ala1873Pro) c.5548G>C (p.Ala1850Pro) c.334G>C (p.Ala112Pro) c.6184G>C (p.Ala2062Pro) c.5995G>C (p.Ala1999Pro) c.4399G>C (p.Ala1467Pro) n.6535G>C | |
| 6 | g.51912439C>T | CA364439545 | PKHD1 | c.6259G>A (p.Ala2087Thr) c.5617G>A (p.Ala1873Thr) c.5548G>A (p.Ala1850Thr) c.334G>A (p.Ala112Thr) c.6184G>A (p.Ala2062Thr) c.5995G>A (p.Ala1999Thr) c.4399G>A (p.Ala1467Thr) n.6535G>A | gnomAD v4 |
| 6 | g.51912440A>C | CA450415956 | PKHD1 | c.6258T>G (p.Gly2086=) c.5616T>G (p.Gly1872=) c.5547T>G (p.Gly1849=) c.333T>G (p.Gly111=) c.6183T>G (p.Gly2061=) c.5994T>G (p.Gly1998=) c.4398T>G (p.Gly1466=) n.6534T>G | |
| 6 | g.51912440A>G | CA450415957 | PKHD1 | c.6258T>C (p.Gly2086=) c.5616T>C (p.Gly1872=) c.5547T>C (p.Gly1849=) c.333T>C (p.Gly111=) c.6183T>C (p.Gly2061=) c.5994T>C (p.Gly1998=) c.4398T>C (p.Gly1466=) n.6534T>C | |
| 6 | g.51912440A>T | CA450415958 | PKHD1 | c.6258T>A (p.Gly2086=) c.5616T>A (p.Gly1872=) c.5547T>A (p.Gly1849=) c.333T>A (p.Gly111=) c.6183T>A (p.Gly2061=) c.5994T>A (p.Gly1998=) c.4398T>A (p.Gly1466=) n.6534T>A | |
| 6 | g.51912441C>A | CA364439551 | PKHD1 | c.6257G>T (p.Gly2086Val) c.5615G>T (p.Gly1872Val) c.5546G>T (p.Gly1849Val) c.332G>T (p.Gly111Val) c.6182G>T (p.Gly2061Val) c.5993G>T (p.Gly1998Val) c.4397G>T (p.Gly1466Val) n.6533G>T | |
| 6 | g.51912441C= | CA1628583376 | PKHD1 | c.6257G= (p.Gly2086=) c.5615G= (p.Gly1872=) c.5546G= (p.Gly1849=) c.332G= (p.Gly111=) c.6182G= (p.Gly2061=) c.5993G= (p.Gly1998=) c.4397G= (p.Gly1466=) n.6533G= | |
| 6 | g.51912441C>G | CA364439549 | PKHD1 | c.6257G>C (p.Gly2086Ala) c.5615G>C (p.Gly1872Ala) c.5546G>C (p.Gly1849Ala) c.332G>C (p.Gly111Ala) c.6182G>C (p.Gly2061Ala) c.5993G>C (p.Gly1998Ala) c.4397G>C (p.Gly1466Ala) n.6533G>C | dbSNP |
| 6 | g.51912441C>T | CA364439547 | PKHD1 | c.6257G>A (p.Gly2086Asp) c.5615G>A (p.Gly1872Asp) c.5546G>A (p.Gly1849Asp) c.332G>A (p.Gly111Asp) c.6182G>A (p.Gly2061Asp) c.5993G>A (p.Gly1998Asp) c.4397G>A (p.Gly1466Asp) n.6533G>A | gnomAD v4 |
| 6 | g.51912442C>A | CA364439555 | PKHD1 | c.6256G>T (p.Gly2086Cys) c.5614G>T (p.Gly1872Cys) c.5545G>T (p.Gly1849Cys) c.331G>T (p.Gly111Cys) c.6181G>T (p.Gly2061Cys) c.5992G>T (p.Gly1998Cys) c.4396G>T (p.Gly1466Cys) n.6532G>T | gnomAD v4 |
| 6 | g.51912442C= | CA1628583380 | PKHD1 | c.6256G= (p.Gly2086=) c.5614G= (p.Gly1872=) c.5545G= (p.Gly1849=) c.331G= (p.Gly111=) c.6181G= (p.Gly2061=) c.5992G= (p.Gly1998=) c.4396G= (p.Gly1466=) n.6532G= | |
| 6 | g.51912442C>G | CA364439553 | PKHD1 | c.6256G>C (p.Gly2086Arg) c.5614G>C (p.Gly1872Arg) c.5545G>C (p.Gly1849Arg) c.331G>C (p.Gly111Arg) c.6181G>C (p.Gly2061Arg) c.5992G>C (p.Gly1998Arg) c.4396G>C (p.Gly1466Arg) n.6532G>C | |
| 6 | g.51912442C>T | CA3852309 | PKHD1 | c.6256G>A (p.Gly2086Ser) c.5614G>A (p.Gly1872Ser) c.5545G>A (p.Gly1849Ser) c.331G>A (p.Gly111Ser) c.6181G>A (p.Gly2061Ser) c.5992G>A (p.Gly1998Ser) c.4396G>A (p.Gly1466Ser) n.6532G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912443T>A | CA364439558 | PKHD1 | c.6255A>T (p.Lys2085Asn) c.5613A>T (p.Lys1871Asn) c.5544A>T (p.Lys1848Asn) c.330A>T (p.Lys110Asn) c.6180A>T (p.Lys2060Asn) c.5991A>T (p.Lys1997Asn) c.4395A>T (p.Lys1465Asn) n.6531A>T | COSMIC COSMIC |
| 6 | g.51912443T>C | CA450415959 | PKHD1 | c.6255A>G (p.Lys2085=) c.5613A>G (p.Lys1871=) c.5544A>G (p.Lys1848=) c.330A>G (p.Lys110=) c.6180A>G (p.Lys2060=) c.5991A>G (p.Lys1997=) c.4395A>G (p.Lys1465=) n.6531A>G | |
| 6 | g.51912443T>G | CA364439560 | PKHD1 | c.6255A>C (p.Lys2085Asn) c.5613A>C (p.Lys1871Asn) c.5544A>C (p.Lys1848Asn) c.330A>C (p.Lys110Asn) c.6180A>C (p.Lys2060Asn) c.5991A>C (p.Lys1997Asn) c.4395A>C (p.Lys1465Asn) n.6531A>C | gnomAD v4 |
| 6 | g.51912444T>A | CA364439563 | PKHD1 | c.6254A>T (p.Lys2085Ile) c.5612A>T (p.Lys1871Ile) c.5543A>T (p.Lys1848Ile) c.329A>T (p.Lys110Ile) c.6179A>T (p.Lys2060Ile) c.5990A>T (p.Lys1997Ile) c.4394A>T (p.Lys1465Ile) n.6530A>T | |
| 6 | g.51912444T>C | CA364439565 | PKHD1 | c.6254A>G (p.Lys2085Arg) c.5612A>G (p.Lys1871Arg) c.5543A>G (p.Lys1848Arg) c.329A>G (p.Lys110Arg) c.6179A>G (p.Lys2060Arg) c.5990A>G (p.Lys1997Arg) c.4394A>G (p.Lys1465Arg) n.6530A>G | |
| 6 | g.51912444T>G | CA364439567 | PKHD1 | c.6254A>C (p.Lys2085Thr) c.5612A>C (p.Lys1871Thr) c.5543A>C (p.Lys1848Thr) c.329A>C (p.Lys110Thr) c.6179A>C (p.Lys2060Thr) c.5990A>C (p.Lys1997Thr) c.4394A>C (p.Lys1465Thr) n.6530A>C | |
| 6 | g.51912445T>A | CA364439570 | PKHD1 | c.6253A>T (p.Lys2085Ter) c.5611A>T (p.Lys1871Ter) c.5542A>T (p.Lys1848Ter) c.328A>T (p.Lys110Ter) c.6178A>T (p.Lys2060Ter) c.5989A>T (p.Lys1997Ter) c.4393A>T (p.Lys1465Ter) n.6529A>T | |
| 6 | g.51912445T>C | CA364439572 | PKHD1 | c.6253A>G (p.Lys2085Glu) c.5611A>G (p.Lys1871Glu) c.5542A>G (p.Lys1848Glu) c.328A>G (p.Lys110Glu) c.6178A>G (p.Lys2060Glu) c.5989A>G (p.Lys1997Glu) c.4393A>G (p.Lys1465Glu) n.6529A>G | |
| 6 | g.51912445T>G | CA364439574 | PKHD1 | c.6253A>C (p.Lys2085Gln) c.5611A>C (p.Lys1871Gln) c.5542A>C (p.Lys1848Gln) c.328A>C (p.Lys110Gln) c.6178A>C (p.Lys2060Gln) c.5989A>C (p.Lys1997Gln) c.4393A>C (p.Lys1465Gln) n.6529A>C | |
| 6 | g.51912446A>C | CA450415961 | PKHD1 | c.6252T>G (p.Val2084=) c.5610T>G (p.Val1870=) c.5541T>G (p.Val1847=) c.327T>G (p.Val109=) c.6177T>G (p.Val2059=) c.5988T>G (p.Val1996=) c.4392T>G (p.Val1464=) n.6528T>G | |
| 6 | g.51912446A>G | CA450415962 | PKHD1 | c.6252T>C (p.Val2084=) c.5610T>C (p.Val1870=) c.5541T>C (p.Val1847=) c.327T>C (p.Val109=) c.6177T>C (p.Val2059=) c.5988T>C (p.Val1996=) c.4392T>C (p.Val1464=) n.6528T>C | |
| 6 | g.51912446A>T | CA450415960 | PKHD1 | c.6252T>A (p.Val2084=) c.5610T>A (p.Val1870=) c.5541T>A (p.Val1847=) c.327T>A (p.Val109=) c.6177T>A (p.Val2059=) c.5988T>A (p.Val1996=) c.4392T>A (p.Val1464=) n.6528T>A | |
| 6 | g.51912447A>C | CA364439576 | PKHD1 | c.6251T>G (p.Val2084Gly) c.5609T>G (p.Val1870Gly) c.5540T>G (p.Val1847Gly) c.326T>G (p.Val109Gly) c.6176T>G (p.Val2059Gly) c.5987T>G (p.Val1996Gly) c.4391T>G (p.Val1464Gly) n.6527T>G | |
| 6 | g.51912447A>G | CA364439578 | PKHD1 | c.6251T>C (p.Val2084Ala) c.5609T>C (p.Val1870Ala) c.5540T>C (p.Val1847Ala) c.326T>C (p.Val109Ala) c.6176T>C (p.Val2059Ala) c.5987T>C (p.Val1996Ala) c.4391T>C (p.Val1464Ala) n.6527T>C | |
| 6 | g.51912447A>T | CA364439580 | PKHD1 | c.6251T>A (p.Val2084Asp) c.5609T>A (p.Val1870Asp) c.5540T>A (p.Val1847Asp) c.326T>A (p.Val109Asp) c.6176T>A (p.Val2059Asp) c.5987T>A (p.Val1996Asp) c.4391T>A (p.Val1464Asp) n.6527T>A | |
| 6 | g.51912447_51912448insTT | CA2740744081 | PKHD1 | c.6250_6251insAA (p.Val2084GlufsTer28) c.5608_5609insAA (p.Val1870GlufsTer28) c.5539_5540insAA (p.Val1847GlufsTer28) c.325_326insAA (p.Val109GlufsTer28) c.6175_6176insAA (p.Val2059GlufsTer28) c.5986_5987insAA (p.Val1996GlufsTer28) c.4390_4391insAA (p.Val1464GlufsTer28) n.6526_6527insAA | |
| 6 | g.51912448C>A | CA364439586 | PKHD1 | c.6250G>T (p.Val2084Phe) c.5608G>T (p.Val1870Phe) c.5539G>T (p.Val1847Phe) c.325G>T (p.Val109Phe) c.6175G>T (p.Val2059Phe) c.5986G>T (p.Val1996Phe) c.4390G>T (p.Val1464Phe) n.6526G>T | dbSNP |
| 6 | g.51912448C= | CA1628583382 | PKHD1 | c.6250G= (p.Val2084=) c.5608G= (p.Val1870=) c.5539G= (p.Val1847=) c.325G= (p.Val109=) c.6175G= (p.Val2059=) c.5986G= (p.Val1996=) c.4390G= (p.Val1464=) n.6526G= | |
| 6 | g.51912448C>G | CA364439582 | PKHD1 | c.6250G>C (p.Val2084Leu) c.5608G>C (p.Val1870Leu) c.5539G>C (p.Val1847Leu) c.325G>C (p.Val109Leu) c.6175G>C (p.Val2059Leu) c.5986G>C (p.Val1996Leu) c.4390G>C (p.Val1464Leu) n.6526G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912448C>T | CA364439585 | PKHD1 | c.6250G>A (p.Val2084Ile) c.5608G>A (p.Val1870Ile) c.5539G>A (p.Val1847Ile) c.325G>A (p.Val109Ile) c.6175G>A (p.Val2059Ile) c.5986G>A (p.Val1996Ile) c.4390G>A (p.Val1464Ile) n.6526G>A | |
| 6 | g.51912449A>C | CA450415963 | PKHD1 | c.6249T>G (p.Gly2083=) c.5607T>G (p.Gly1869=) c.5538T>G (p.Gly1846=) c.324T>G (p.Gly108=) c.6174T>G (p.Gly2058=) c.5985T>G (p.Gly1995=) c.4389T>G (p.Gly1463=) n.6525T>G | ClinVar |
| 6 | g.51912449A>G | CA450415964 | PKHD1 | c.6249T>C (p.Gly2083=) c.5607T>C (p.Gly1869=) c.5538T>C (p.Gly1846=) c.324T>C (p.Gly108=) c.6174T>C (p.Gly2058=) c.5985T>C (p.Gly1995=) c.4389T>C (p.Gly1463=) n.6525T>C | |
| 6 | g.51912449A>T | CA450415965 | PKHD1 | c.6249T>A (p.Gly2083=) c.5607T>A (p.Gly1869=) c.5538T>A (p.Gly1846=) c.324T>A (p.Gly108=) c.6174T>A (p.Gly2058=) c.5985T>A (p.Gly1995=) c.4389T>A (p.Gly1463=) n.6525T>A | |
| 6 | g.51912450C>A | CA364439588 | PKHD1 | c.6248G>T (p.Gly2083Val) c.5606G>T (p.Gly1869Val) c.5537G>T (p.Gly1846Val) c.323G>T (p.Gly108Val) c.6173G>T (p.Gly2058Val) c.5984G>T (p.Gly1995Val) c.4388G>T (p.Gly1463Val) n.6524G>T | dbSNP gnomAD v4 |
| 6 | g.51912450C>G | CA364439590 | PKHD1 | c.6248G>C (p.Gly2083Ala) c.5606G>C (p.Gly1869Ala) c.5537G>C (p.Gly1846Ala) c.323G>C (p.Gly108Ala) c.6173G>C (p.Gly2058Ala) c.5984G>C (p.Gly1995Ala) c.4388G>C (p.Gly1463Ala) n.6524G>C | |
| 6 | g.51912450C>T | CA364439591 | PKHD1 | c.6248G>A (p.Gly2083Asp) c.5606G>A (p.Gly1869Asp) c.5537G>A (p.Gly1846Asp) c.323G>A (p.Gly108Asp) c.6173G>A (p.Gly2058Asp) c.5984G>A (p.Gly1995Asp) c.4388G>A (p.Gly1463Asp) n.6524G>A | |
| 6 | g.51912451C>A | CA364439593 | PKHD1 | c.6247G>T (p.Gly2083Cys) c.5605G>T (p.Gly1869Cys) c.5536G>T (p.Gly1846Cys) c.322G>T (p.Gly108Cys) c.6172G>T (p.Gly2058Cys) c.5983G>T (p.Gly1995Cys) c.4387G>T (p.Gly1463Cys) n.6523G>T | dbSNP |
| 6 | g.51912451C>G | CA364439596 | PKHD1 | c.6247G>C (p.Gly2083Arg) c.5605G>C (p.Gly1869Arg) c.5536G>C (p.Gly1846Arg) c.322G>C (p.Gly108Arg) c.6172G>C (p.Gly2058Arg) c.5983G>C (p.Gly1995Arg) c.4387G>C (p.Gly1463Arg) n.6523G>C | |
| 6 | g.51912451C>T | CA364439598 | PKHD1 | c.6247G>A (p.Gly2083Ser) c.5605G>A (p.Gly1869Ser) c.5536G>A (p.Gly1846Ser) c.322G>A (p.Gly108Ser) c.6172G>A (p.Gly2058Ser) c.5983G>A (p.Gly1995Ser) c.4387G>A (p.Gly1463Ser) n.6523G>A | |
| 6 | g.51912452T>A | CA450415966 | PKHD1 | c.6246A>T (p.Thr2082=) c.5604A>T (p.Thr1868=) c.5535A>T (p.Thr1845=) c.321A>T (p.Thr107=) c.6171A>T (p.Thr2057=) c.5982A>T (p.Thr1994=) c.4386A>T (p.Thr1462=) n.6522A>T | |
| 6 | g.51912452T>C | CA450415967 | PKHD1 | c.6246A>G (p.Thr2082=) c.5604A>G (p.Thr1868=) c.5535A>G (p.Thr1845=) c.321A>G (p.Thr107=) c.6171A>G (p.Thr2057=) c.5982A>G (p.Thr1994=) c.4386A>G (p.Thr1462=) n.6522A>G | gnomAD v4 |
| 6 | g.51912452T>G | CA450415968 | PKHD1 | c.6246A>C (p.Thr2082=) c.5604A>C (p.Thr1868=) c.5535A>C (p.Thr1845=) c.321A>C (p.Thr107=) c.6171A>C (p.Thr2057=) c.5982A>C (p.Thr1994=) c.4386A>C (p.Thr1462=) n.6522A>C | |
| 6 | g.51912453G>A | CA202674 | PKHD1 | c.6245C>T (p.Thr2082Ile) c.5603C>T (p.Thr1868Ile) c.5534C>T (p.Thr1845Ile) c.320C>T (p.Thr107Ile) c.6170C>T (p.Thr2057Ile) c.5981C>T (p.Thr1994Ile) c.4385C>T (p.Thr1462Ile) n.6521C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912453G>C | CA364439601 | PKHD1 | c.6245C>G (p.Thr2082Arg) c.5603C>G (p.Thr1868Arg) c.5534C>G (p.Thr1845Arg) c.320C>G (p.Thr107Arg) c.6170C>G (p.Thr2057Arg) c.5981C>G (p.Thr1994Arg) c.4385C>G (p.Thr1462Arg) n.6521C>G | gnomAD v4 |
| 6 | g.51912453G= | CA1628583384 | PKHD1 | c.6245C= (p.Thr2082=) c.5603C= (p.Thr1868=) c.5534C= (p.Thr1845=) c.320C= (p.Thr107=) c.6170C= (p.Thr2057=) c.5981C= (p.Thr1994=) c.4385C= (p.Thr1462=) n.6521C= | |
| 6 | g.51912453G>T | CA364439604 | PKHD1 | c.6245C>A (p.Thr2082Lys) c.5603C>A (p.Thr1868Lys) c.5534C>A (p.Thr1845Lys) c.320C>A (p.Thr107Lys) c.6170C>A (p.Thr2057Lys) c.5981C>A (p.Thr1994Lys) c.4385C>A (p.Thr1462Lys) n.6521C>A | |
| 6 | g.51912454T>A | CA364439607 | PKHD1 | c.6244A>T (p.Thr2082Ser) c.5602A>T (p.Thr1868Ser) c.5533A>T (p.Thr1845Ser) c.319A>T (p.Thr107Ser) c.6169A>T (p.Thr2057Ser) c.5980A>T (p.Thr1994Ser) c.4384A>T (p.Thr1462Ser) n.6520A>T | |
| 6 | g.51912454T>C | CA364439609 | PKHD1 | c.6244A>G (p.Thr2082Ala) c.5602A>G (p.Thr1868Ala) c.5533A>G (p.Thr1845Ala) c.319A>G (p.Thr107Ala) c.6169A>G (p.Thr2057Ala) c.5980A>G (p.Thr1994Ala) c.4384A>G (p.Thr1462Ala) n.6520A>G | |
| 6 | g.51912454T>G | CA364439612 | PKHD1 | c.6244A>C (p.Thr2082Pro) c.5602A>C (p.Thr1868Pro) c.5533A>C (p.Thr1845Pro) c.319A>C (p.Thr107Pro) c.6169A>C (p.Thr2057Pro) c.5980A>C (p.Thr1994Pro) c.4384A>C (p.Thr1462Pro) n.6520A>C | |
| 6 | g.51912455T>A | CA450415969 | PKHD1 | c.6243A>T (p.Gly2081=) c.5601A>T (p.Gly1867=) c.5532A>T (p.Gly1844=) c.318A>T (p.Gly106=) c.6168A>T (p.Gly2056=) c.5979A>T (p.Gly1993=) c.4383A>T (p.Gly1461=) n.6519A>T | ClinVar |
| 6 | g.51912455T>C | CA450415970 | PKHD1 | c.6243A>G (p.Gly2081=) c.5601A>G (p.Gly1867=) c.5532A>G (p.Gly1844=) c.318A>G (p.Gly106=) c.6168A>G (p.Gly2056=) c.5979A>G (p.Gly1993=) c.4383A>G (p.Gly1461=) n.6519A>G | |
| 6 | g.51912455T>G | CA450415971 | PKHD1 | c.6243A>C (p.Gly2081=) c.5601A>C (p.Gly1867=) c.5532A>C (p.Gly1844=) c.318A>C (p.Gly106=) c.6168A>C (p.Gly2056=) c.5979A>C (p.Gly1993=) c.4383A>C (p.Gly1461=) n.6519A>C | |
| 6 | g.51912456C>A | CA364439615 | PKHD1 | c.6242G>T (p.Gly2081Val) c.5600G>T (p.Gly1867Val) c.5531G>T (p.Gly1844Val) c.317G>T (p.Gly106Val) c.6167G>T (p.Gly2056Val) c.5978G>T (p.Gly1993Val) c.4382G>T (p.Gly1461Val) n.6518G>T | |
| 6 | g.51912456C= | CA1628583389 | PKHD1 | c.6242G= (p.Gly2081=) c.5600G= (p.Gly1867=) c.5531G= (p.Gly1844=) c.317G= (p.Gly106=) c.6167G= (p.Gly2056=) c.5978G= (p.Gly1993=) c.4382G= (p.Gly1461=) n.6518G= | |
| 6 | g.51912456C>G | CA364439616 | PKHD1 | c.6242G>C (p.Gly2081Ala) c.5600G>C (p.Gly1867Ala) c.5531G>C (p.Gly1844Ala) c.317G>C (p.Gly106Ala) c.6167G>C (p.Gly2056Ala) c.5978G>C (p.Gly1993Ala) c.4382G>C (p.Gly1461Ala) n.6518G>C | |
| 6 | g.51912456C>T | CA138910840 | PKHD1 | c.6242G>A (p.Gly2081Glu) c.5600G>A (p.Gly1867Glu) c.5531G>A (p.Gly1844Glu) c.317G>A (p.Gly106Glu) c.6167G>A (p.Gly2056Glu) c.5978G>A (p.Gly1993Glu) c.4382G>A (p.Gly1461Glu) n.6518G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51912457C>A | CA364439619 | PKHD1 | c.6241G>T (p.Gly2081Ter) c.5599G>T (p.Gly1867Ter) c.5530G>T (p.Gly1844Ter) c.316G>T (p.Gly106Ter) c.6166G>T (p.Gly2056Ter) c.5977G>T (p.Gly1993Ter) c.4381G>T (p.Gly1461Ter) n.6517G>T | |
| 6 | g.51912457C>G | CA364439623 | PKHD1 | c.6241G>C (p.Gly2081Arg) c.5599G>C (p.Gly1867Arg) c.5530G>C (p.Gly1844Arg) c.316G>C (p.Gly106Arg) c.6166G>C (p.Gly2056Arg) c.5977G>C (p.Gly1993Arg) c.4381G>C (p.Gly1461Arg) n.6517G>C | |
| 6 | g.51912457C>T | CA364439621 | PKHD1 | c.6241G>A (p.Gly2081Arg) c.5599G>A (p.Gly1867Arg) c.5530G>A (p.Gly1844Arg) c.316G>A (p.Gly106Arg) c.6166G>A (p.Gly2056Arg) c.5977G>A (p.Gly1993Arg) c.4381G>A (p.Gly1461Arg) n.6517G>A | |
| 6 | g.51912458A>C | CA364439626 | PKHD1 | c.6240T>G (p.Ser2080Arg) c.5598T>G (p.Ser1866Arg) c.5529T>G (p.Ser1843Arg) c.315T>G (p.Ser105Arg) c.6165T>G (p.Ser2055Arg) c.5976T>G (p.Ser1992Arg) c.4380T>G (p.Ser1460Arg) n.6516T>G | |
| 6 | g.51912458A>G | CA450415972 | PKHD1 | c.6240T>C (p.Ser2080=) c.5598T>C (p.Ser1866=) c.5529T>C (p.Ser1843=) c.315T>C (p.Ser105=) c.6165T>C (p.Ser2055=) c.5976T>C (p.Ser1992=) c.4380T>C (p.Ser1460=) n.6516T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.51912458A>T | CA364439627 | PKHD1 | c.6240T>A (p.Ser2080Arg) c.5598T>A (p.Ser1866Arg) c.5529T>A (p.Ser1843Arg) c.315T>A (p.Ser105Arg) c.6165T>A (p.Ser2055Arg) c.5976T>A (p.Ser1992Arg) c.4380T>A (p.Ser1460Arg) n.6516T>A | |
| 6 | g.51912459C>A | CA364439630 | PKHD1 | c.6239G>T (p.Ser2080Ile) c.5597G>T (p.Ser1866Ile) c.5528G>T (p.Ser1843Ile) c.314G>T (p.Ser105Ile) c.6164G>T (p.Ser2055Ile) c.5975G>T (p.Ser1992Ile) c.4379G>T (p.Ser1460Ile) n.6515G>T | |
| 6 | g.51912459C>G | CA364439631 | PKHD1 | c.6239G>C (p.Ser2080Thr) c.5597G>C (p.Ser1866Thr) c.5528G>C (p.Ser1843Thr) c.314G>C (p.Ser105Thr) c.6164G>C (p.Ser2055Thr) c.5975G>C (p.Ser1992Thr) c.4379G>C (p.Ser1460Thr) n.6515G>C | |
| 6 | g.51912459C>T | CA364439634 | PKHD1 | c.6239G>A (p.Ser2080Asn) c.5597G>A (p.Ser1866Asn) c.5528G>A (p.Ser1843Asn) c.314G>A (p.Ser105Asn) c.6164G>A (p.Ser2055Asn) c.5975G>A (p.Ser1992Asn) c.4379G>A (p.Ser1460Asn) n.6515G>A | COSMIC COSMIC |
| 6 | g.51912460T>A | CA364439637 | PKHD1 | c.6238A>T (p.Ser2080Cys) c.5596A>T (p.Ser1866Cys) c.5527A>T (p.Ser1843Cys) c.313A>T (p.Ser105Cys) c.6163A>T (p.Ser2055Cys) c.5974A>T (p.Ser1992Cys) c.4378A>T (p.Ser1460Cys) n.6514A>T | |
| 6 | g.51912460T>C | CA3852310 | PKHD1 | c.6238A>G (p.Ser2080Gly) c.5596A>G (p.Ser1866Gly) c.5527A>G (p.Ser1843Gly) c.313A>G (p.Ser105Gly) c.6163A>G (p.Ser2055Gly) c.5974A>G (p.Ser1992Gly) c.4378A>G (p.Ser1460Gly) n.6514A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912460T>G | CA364439640 | PKHD1 | c.6238A>C (p.Ser2080Arg) c.5596A>C (p.Ser1866Arg) c.5527A>C (p.Ser1843Arg) c.313A>C (p.Ser105Arg) c.6163A>C (p.Ser2055Arg) c.5974A>C (p.Ser1992Arg) c.4378A>C (p.Ser1460Arg) n.6514A>C | |
| 6 | g.51912460T= | CA1628583392 | PKHD1 | c.6238A= (p.Ser2080=) c.5596A= (p.Ser1866=) c.5527A= (p.Ser1843=) c.313A= (p.Ser105=) c.6163A= (p.Ser2055=) c.5974A= (p.Ser1992=) c.4378A= (p.Ser1460=) n.6514A= | |
| 6 | g.51912466_51912468del | CA2597194018 | PKHD1 | c.6236_6238del (p.Ile2079del) c.5594_5596del (p.Ile1865del) c.5525_5527del (p.Ile1842del) c.311_313del (p.Ile104del) c.6161_6163del (p.Ile2054del) c.5972_5974del (p.Ile1991del) c.4376_4378del (p.Ile1459del) n.6512_6514del | gnomAD v3 gnomAD v4 |
| 6 | g.51912461G>A | CA450415973 | PKHD1 | c.6237C>T (p.Ile2079=) c.5595C>T (p.Ile1865=) c.5526C>T (p.Ile1842=) c.312C>T (p.Ile104=) c.6162C>T (p.Ile2054=) c.5973C>T (p.Ile1991=) c.4377C>T (p.Ile1459=) n.6513C>T | |
| 6 | g.51912461G>C | CA364439643 | PKHD1 | c.6237C>G (p.Ile2079Met) c.5595C>G (p.Ile1865Met) c.5526C>G (p.Ile1842Met) c.312C>G (p.Ile104Met) c.6162C>G (p.Ile2054Met) c.5973C>G (p.Ile1991Met) c.4377C>G (p.Ile1459Met) n.6513C>G | |
| 6 | g.51912461G>T | CA450415974 | PKHD1 | c.6237C>A (p.Ile2079=) c.5595C>A (p.Ile1865=) c.5526C>A (p.Ile1842=) c.312C>A (p.Ile104=) c.6162C>A (p.Ile2054=) c.5973C>A (p.Ile1991=) c.4377C>A (p.Ile1459=) n.6513C>A | |
| 6 | g.51912462A>C | CA364439646 | PKHD1 | c.6236T>G (p.Ile2079Ser) c.5594T>G (p.Ile1865Ser) c.5525T>G (p.Ile1842Ser) c.311T>G (p.Ile104Ser) c.6161T>G (p.Ile2054Ser) c.5972T>G (p.Ile1991Ser) c.4376T>G (p.Ile1459Ser) n.6512T>G | |
| 6 | g.51912462A>G | CA364439648 | PKHD1 | c.6236T>C (p.Ile2079Thr) c.5594T>C (p.Ile1865Thr) c.5525T>C (p.Ile1842Thr) c.311T>C (p.Ile104Thr) c.6161T>C (p.Ile2054Thr) c.5972T>C (p.Ile1991Thr) c.4376T>C (p.Ile1459Thr) n.6512T>C | |
| 6 | g.51912462A>T | CA364439650 | PKHD1 | c.6236T>A (p.Ile2079Asn) c.5594T>A (p.Ile1865Asn) c.5525T>A (p.Ile1842Asn) c.311T>A (p.Ile104Asn) c.6161T>A (p.Ile2054Asn) c.5972T>A (p.Ile1991Asn) c.4376T>A (p.Ile1459Asn) n.6512T>A | |
| 6 | g.51912463T>A | CA364439652 | PKHD1 | c.6235A>T (p.Ile2079Phe) c.5593A>T (p.Ile1865Phe) c.5524A>T (p.Ile1842Phe) c.310A>T (p.Ile104Phe) c.6160A>T (p.Ile2054Phe) c.5971A>T (p.Ile1991Phe) c.4375A>T (p.Ile1459Phe) n.6511A>T | |
| 6 | g.51912463T>C | CA3852311 | PKHD1 | c.6235A>G (p.Ile2079Val) c.5593A>G (p.Ile1865Val) c.5524A>G (p.Ile1842Val) c.310A>G (p.Ile104Val) c.6160A>G (p.Ile2054Val) c.5971A>G (p.Ile1991Val) c.4375A>G (p.Ile1459Val) n.6511A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51912463T>G | CA364439655 | PKHD1 | c.6235A>C (p.Ile2079Leu) c.5593A>C (p.Ile1865Leu) c.5524A>C (p.Ile1842Leu) c.310A>C (p.Ile104Leu) c.6160A>C (p.Ile2054Leu) c.5971A>C (p.Ile1991Leu) c.4375A>C (p.Ile1459Leu) n.6511A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51912463T= | CA1628583394 | PKHD1 | c.6235A= (p.Ile2079=) c.5593A= (p.Ile1865=) c.5524A= (p.Ile1842=) c.310A= (p.Ile104=) c.6160A= (p.Ile2054=) c.5971A= (p.Ile1991=) c.4375A= (p.Ile1459=) n.6511A= | |
| 6 | g.51912464del | CA2679081921 | PKHD1 | c.6234del (p.Ile2079SerfsTer?) c.5592del (p.Ile1865SerfsTer?) c.5523del (p.Ile1842SerfsTer?) c.309del (p.Ile104SerfsTer?) c.6159del (p.Ile2054SerfsTer?) c.5970del (p.Ile1991SerfsTer?) c.4374del (p.Ile1459SerfsTer?) n.6510del | gnomAD v4 |
| 6 | g.51912464G>A | CA450415975 | PKHD1 | c.6234C>T (p.Ile2078=) c.5592C>T (p.Ile1864=) c.5523C>T (p.Ile1841=) c.309C>T (p.Ile103=) c.6159C>T (p.Ile2053=) c.5970C>T (p.Ile1990=) c.4374C>T (p.Ile1458=) n.6510C>T | ClinVar gnomAD v4 |
| 6 | g.51912464G>C | CA364439658 | PKHD1 | c.6234C>G (p.Ile2078Met) c.5592C>G (p.Ile1864Met) c.5523C>G (p.Ile1841Met) c.309C>G (p.Ile103Met) c.6159C>G (p.Ile2053Met) c.5970C>G (p.Ile1990Met) c.4374C>G (p.Ile1458Met) n.6510C>G | dbSNP gnomAD v4 |
| 6 | g.51912464G= | CA1628583397 | PKHD1 | c.6234C= (p.Ile2078=) c.5592C= (p.Ile1864=) c.5523C= (p.Ile1841=) c.309C= (p.Ile103=) c.6159C= (p.Ile2053=) c.5970C= (p.Ile1990=) c.4374C= (p.Ile1458=) n.6510C= | |
| 6 | g.51912464G>T | CA450415976 | PKHD1 | c.6234C>A (p.Ile2078=) c.5592C>A (p.Ile1864=) c.5523C>A (p.Ile1841=) c.309C>A (p.Ile103=) c.6159C>A (p.Ile2053=) c.5970C>A (p.Ile1990=) c.4374C>A (p.Ile1458=) n.6510C>A | |
| 6 | g.51912465A>C | CA364439660 | PKHD1 | c.6233T>G (p.Ile2078Ser) c.5591T>G (p.Ile1864Ser) c.5522T>G (p.Ile1841Ser) c.308T>G (p.Ile103Ser) c.6158T>G (p.Ile2053Ser) c.5969T>G (p.Ile1990Ser) c.4373T>G (p.Ile1458Ser) n.6509T>G | |
| 6 | g.51912465A>G | CA364439662 | PKHD1 | c.6233T>C (p.Ile2078Thr) c.5591T>C (p.Ile1864Thr) c.5522T>C (p.Ile1841Thr) c.308T>C (p.Ile103Thr) c.6158T>C (p.Ile2053Thr) c.5969T>C (p.Ile1990Thr) c.4373T>C (p.Ile1458Thr) n.6509T>C | |
| 6 | g.51912465A>T | CA364439664 | PKHD1 | c.6233T>A (p.Ile2078Asn) c.5591T>A (p.Ile1864Asn) c.5522T>A (p.Ile1841Asn) c.308T>A (p.Ile103Asn) c.6158T>A (p.Ile2053Asn) c.5969T>A (p.Ile1990Asn) c.4373T>A (p.Ile1458Asn) n.6509T>A | |
| 6 | g.51912466T>A | CA364439666 | PKHD1 | c.6232A>T (p.Ile2078Phe) c.5590A>T (p.Ile1864Phe) c.5521A>T (p.Ile1841Phe) c.307A>T (p.Ile103Phe) c.6157A>T (p.Ile2053Phe) c.5968A>T (p.Ile1990Phe) c.4372A>T (p.Ile1458Phe) n.6508A>T | |
| 6 | g.51912466T>C | CA364439669 | PKHD1 | c.6232A>G (p.Ile2078Val) c.5590A>G (p.Ile1864Val) c.5521A>G (p.Ile1841Val) c.307A>G (p.Ile103Val) c.6157A>G (p.Ile2053Val) c.5968A>G (p.Ile1990Val) c.4372A>G (p.Ile1458Val) n.6508A>G | |
| 6 | g.51912466T>G | CA364439671 | PKHD1 | c.6232A>C (p.Ile2078Leu) c.5590A>C (p.Ile1864Leu) c.5521A>C (p.Ile1841Leu) c.307A>C (p.Ile103Leu) c.6157A>C (p.Ile2053Leu) c.5968A>C (p.Ile1990Leu) c.4372A>C (p.Ile1458Leu) n.6508A>C | |
| 6 | g.51912467G>A | CA450415977 | PKHD1 | c.6231C>T (p.Val2077=) c.5589C>T (p.Val1863=) c.5520C>T (p.Val1840=) c.306C>T (p.Val102=) c.6156C>T (p.Val2052=) c.5967C>T (p.Val1989=) c.4371C>T (p.Val1457=) n.6507C>T | gnomAD v4 |
| 6 | g.51912467G>C | CA450415979 | PKHD1 | c.6231C>G (p.Val2077=) c.5589C>G (p.Val1863=) c.5520C>G (p.Val1840=) c.306C>G (p.Val102=) c.6156C>G (p.Val2052=) c.5967C>G (p.Val1989=) c.4371C>G (p.Val1457=) n.6507C>G | dbSNP gnomAD v2 |
| 6 | g.51912467G= | CA1628583400 | PKHD1 | c.6231C= (p.Val2077=) c.5589C= (p.Val1863=) c.5520C= (p.Val1840=) c.306C= (p.Val102=) c.6156C= (p.Val2052=) c.5967C= (p.Val1989=) c.4371C= (p.Val1457=) n.6507C= | |
| 6 | g.51912467G>T | CA450415978 | PKHD1 | c.6231C>A (p.Val2077=) c.5589C>A (p.Val1863=) c.5520C>A (p.Val1840=) c.306C>A (p.Val102=) c.6156C>A (p.Val2052=) c.5967C>A (p.Val1989=) c.4371C>A (p.Val1457=) n.6507C>A | |
| 6 | g.51912468A>C | CA364439673 | PKHD1 | c.6230T>G (p.Val2077Gly) c.5588T>G (p.Val1863Gly) c.5519T>G (p.Val1840Gly) c.305T>G (p.Val102Gly) c.6155T>G (p.Val2052Gly) c.5966T>G (p.Val1989Gly) c.4370T>G (p.Val1457Gly) n.6506T>G | |
| 6 | g.51912468A>G | CA364439674 | PKHD1 | c.6230T>C (p.Val2077Ala) c.5588T>C (p.Val1863Ala) c.5519T>C (p.Val1840Ala) c.305T>C (p.Val102Ala) c.6155T>C (p.Val2052Ala) c.5966T>C (p.Val1989Ala) c.4370T>C (p.Val1457Ala) n.6506T>C | |
| 6 | g.51912468A>T | CA364439676 | PKHD1 | c.6230T>A (p.Val2077Asp) c.5588T>A (p.Val1863Asp) c.5519T>A (p.Val1840Asp) c.305T>A (p.Val102Asp) c.6155T>A (p.Val2052Asp) c.5966T>A (p.Val1989Asp) c.4370T>A (p.Val1457Asp) n.6506T>A | |
| 6 | g.51912469C>A | CA364439680 | PKHD1 | c.6229G>T (p.Val2077Phe) c.5587G>T (p.Val1863Phe) c.5518G>T (p.Val1840Phe) c.304G>T (p.Val102Phe) c.6154G>T (p.Val2052Phe) c.5965G>T (p.Val1989Phe) c.4369G>T (p.Val1457Phe) n.6505G>T | gnomAD v4 |
| 6 | g.51912469C>G | CA364439681 | PKHD1 | c.6229G>C (p.Val2077Leu) c.5587G>C (p.Val1863Leu) c.5518G>C (p.Val1840Leu) c.304G>C (p.Val102Leu) c.6154G>C (p.Val2052Leu) c.5965G>C (p.Val1989Leu) c.4369G>C (p.Val1457Leu) n.6505G>C | |
| 6 | g.51912469C>T | CA364439683 | PKHD1 | c.6229G>A (p.Val2077Ile) c.5587G>A (p.Val1863Ile) c.5518G>A (p.Val1840Ile) c.304G>A (p.Val102Ile) c.6154G>A (p.Val2052Ile) c.5965G>A (p.Val1989Ile) c.4369G>A (p.Val1457Ile) n.6505G>A |