| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10705374_10705375delinsCA | CA2284425239 | PIEZO2 | c.5696_5697delinsTG (p.Leu1899=) c.704_705delinsTG (p.Leu235=) c.5960_5961delinsTG (p.Leu1987=) c.5621_5622delinsTG (p.Leu1874=) c.5474_5475delinsTG (p.Leu1825=) c.5827_5828delinsTG (n.5827_5828delinsTG) c.5753_5754delinsTG (p.Leu1918=) c.5663_5664delinsTG (p.Leu1888=) c.5714_5715delinsTG (p.Leu1905=) n.6750_6751delinsTG | |
| 18 | g.10705375del | CA16044177 | PIEZO2 | c.5696del (p.Leu1899ArgfsTer5) c.704del (p.Leu235ArgfsTer5) c.5960del (p.Leu1987ArgfsTer5) c.5621del (p.Leu1874ArgfsTer5) c.5474del (p.Leu1825ArgfsTer5) c.5827del (n.5827del) c.5753del (p.Leu1918ArgfsTer5) c.5663del (p.Leu1888ArgfsTer5) c.5714del (p.Leu1905ArgfsTer5) n.6750del | ClinVar dbSNP |
| 18 | g.10705375A= | CA2284425240 | PIEZO2 | c.5696T= (p.Leu1899=) c.704T= (p.Leu235=) c.5960T= (p.Leu1987=) c.5621T= (p.Leu1874=) c.5474T= (p.Leu1825=) c.5827T= (n.5827T=) c.5753T= (p.Leu1918=) c.5663T= (p.Leu1888=) c.5714T= (p.Leu1905=) n.6750T= | |
| 18 | g.10705375A>C | CA401910285 | PIEZO2 | c.5696T>G (p.Leu1899Arg) c.704T>G (p.Leu235Arg) c.5960T>G (p.Leu1987Arg) c.5621T>G (p.Leu1874Arg) c.5474T>G (p.Leu1825Arg) c.5827T>G (n.5827T>G) c.5753T>G (p.Leu1918Arg) c.5663T>G (p.Leu1888Arg) c.5714T>G (p.Leu1905Arg) n.6750T>G | |
| 18 | g.10705375A>G | CA401910286 | PIEZO2 | c.5696T>C (p.Leu1899Pro) c.704T>C (p.Leu235Pro) c.5960T>C (p.Leu1987Pro) c.5621T>C (p.Leu1874Pro) c.5474T>C (p.Leu1825Pro) c.5827T>C (n.5827T>C) c.5753T>C (p.Leu1918Pro) c.5663T>C (p.Leu1888Pro) c.5714T>C (p.Leu1905Pro) n.6750T>C | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.10705375A>T | CA401910287 | PIEZO2 | c.5696T>A (p.Leu1899Gln) c.704T>A (p.Leu235Gln) c.5960T>A (p.Leu1987Gln) c.5621T>A (p.Leu1874Gln) c.5474T>A (p.Leu1825Gln) c.5827T>A (n.5827T>A) c.5753T>A (p.Leu1918Gln) c.5663T>A (p.Leu1888Gln) c.5714T>A (p.Leu1905Gln) n.6750T>A | |
| 18 | g.10705376G>A | CA503243179 | PIEZO2 | c.5695C>T (p.Leu1899=) c.703C>T (p.Leu235=) c.5959C>T (p.Leu1987=) c.5620C>T (p.Leu1874=) c.5473C>T (p.Leu1825=) c.5826C>T (n.5826C>T) c.5752C>T (p.Leu1918=) c.5662C>T (p.Leu1888=) c.5713C>T (p.Leu1905=) n.6749C>T | gnomAD v4 |
| 18 | g.10705376G>C | CA401910289 | PIEZO2 | c.5695C>G (p.Leu1899Val) c.703C>G (p.Leu235Val) c.5959C>G (p.Leu1987Val) c.5620C>G (p.Leu1874Val) c.5473C>G (p.Leu1825Val) c.5826C>G (n.5826C>G) c.5752C>G (p.Leu1918Val) c.5662C>G (p.Leu1888Val) c.5713C>G (p.Leu1905Val) n.6749C>G | gnomAD v4 |
| 18 | g.10705376G>T | CA401910288 | PIEZO2 | c.5695C>A (p.Leu1899Met) c.703C>A (p.Leu235Met) c.5959C>A (p.Leu1987Met) c.5620C>A (p.Leu1874Met) c.5473C>A (p.Leu1825Met) c.5826C>A (n.5826C>A) c.5752C>A (p.Leu1918Met) c.5662C>A (p.Leu1888Met) c.5713C>A (p.Leu1905Met) n.6749C>A | |
| 18 | g.10705377G>A | CA503243182 | PIEZO2 | c.5694C>T (p.Pro1898=) c.702C>T (p.Pro234=) c.5958C>T (p.Pro1986=) c.5619C>T (p.Pro1873=) c.5472C>T (p.Pro1824=) c.5825C>T (n.5825C>T) c.5751C>T (p.Pro1917=) c.5661C>T (p.Pro1887=) c.5712C>T (p.Pro1904=) n.6748C>T | gnomAD v4 |
| 18 | g.10705377G>C | CA503243181 | PIEZO2 | c.5694C>G (p.Pro1898=) c.702C>G (p.Pro234=) c.5958C>G (p.Pro1986=) c.5619C>G (p.Pro1873=) c.5472C>G (p.Pro1824=) c.5825C>G (n.5825C>G) c.5751C>G (p.Pro1917=) c.5661C>G (p.Pro1887=) c.5712C>G (p.Pro1904=) n.6748C>G | |
| 18 | g.10705377G= | CA2284425241 | PIEZO2 | c.5694C= (p.Pro1898=) c.702C= (p.Pro234=) c.5958C= (p.Pro1986=) c.5619C= (p.Pro1873=) c.5472C= (p.Pro1824=) c.5825C= (n.5825C=) c.5751C= (p.Pro1917=) c.5661C= (p.Pro1887=) c.5712C= (p.Pro1904=) n.6748C= | |
| 18 | g.10705377G>T | CA503243180 | PIEZO2 | c.5694C>A (p.Pro1898=) c.702C>A (p.Pro234=) c.5958C>A (p.Pro1986=) c.5619C>A (p.Pro1873=) c.5472C>A (p.Pro1824=) c.5825C>A (n.5825C>A) c.5751C>A (p.Pro1917=) c.5661C>A (p.Pro1887=) c.5712C>A (p.Pro1904=) n.6748C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.10705378G>A | CA401910290 | PIEZO2 | c.5693C>T (p.Pro1898Leu) c.701C>T (p.Pro234Leu) c.5957C>T (p.Pro1986Leu) c.5618C>T (p.Pro1873Leu) c.5471C>T (p.Pro1824Leu) c.5824C>T (n.5824C>T) c.5750C>T (p.Pro1917Leu) c.5660C>T (p.Pro1887Leu) c.5711C>T (p.Pro1904Leu) n.6747C>T | |
| 18 | g.10705378G>C | CA401910291 | PIEZO2 | c.5693C>G (p.Pro1898Arg) c.701C>G (p.Pro234Arg) c.5957C>G (p.Pro1986Arg) c.5618C>G (p.Pro1873Arg) c.5471C>G (p.Pro1824Arg) c.5824C>G (n.5824C>G) c.5750C>G (p.Pro1917Arg) c.5660C>G (p.Pro1887Arg) c.5711C>G (p.Pro1904Arg) n.6747C>G | |
| 18 | g.10705378G>T | CA401910292 | PIEZO2 | c.5693C>A (p.Pro1898His) c.701C>A (p.Pro234His) c.5957C>A (p.Pro1986His) c.5618C>A (p.Pro1873His) c.5471C>A (p.Pro1824His) c.5824C>A (n.5824C>A) c.5750C>A (p.Pro1917His) c.5660C>A (p.Pro1887His) c.5711C>A (p.Pro1904His) n.6747C>A | gnomAD v4 |
| 18 | g.10705379G>A | CA401910293 | PIEZO2 | c.5692C>T (p.Pro1898Ser) c.700C>T (p.Pro234Ser) c.5956C>T (p.Pro1986Ser) c.5617C>T (p.Pro1873Ser) c.5470C>T (p.Pro1824Ser) c.5823C>T (n.5823C>T) c.5749C>T (p.Pro1917Ser) c.5659C>T (p.Pro1887Ser) c.5710C>T (p.Pro1904Ser) n.6746C>T | |
| 18 | g.10705379G>C | CA401910294 | PIEZO2 | c.5692C>G (p.Pro1898Ala) c.700C>G (p.Pro234Ala) c.5956C>G (p.Pro1986Ala) c.5617C>G (p.Pro1873Ala) c.5470C>G (p.Pro1824Ala) c.5823C>G (n.5823C>G) c.5749C>G (p.Pro1917Ala) c.5659C>G (p.Pro1887Ala) c.5710C>G (p.Pro1904Ala) n.6746C>G | |
| 18 | g.10705379G>T | CA401910295 | PIEZO2 | c.5692C>A (p.Pro1898Thr) c.700C>A (p.Pro234Thr) c.5956C>A (p.Pro1986Thr) c.5617C>A (p.Pro1873Thr) c.5470C>A (p.Pro1824Thr) c.5823C>A (n.5823C>A) c.5749C>A (p.Pro1917Thr) c.5659C>A (p.Pro1887Thr) c.5710C>A (p.Pro1904Thr) n.6746C>A | |
| 18 | g.10705380A>C | CA503243183 | PIEZO2 | c.5691T>G (p.Pro1897=) c.699T>G (p.Pro233=) c.5955T>G (p.Pro1985=) c.5616T>G (p.Pro1872=) c.5469T>G (p.Pro1823=) c.5822T>G (n.5822T>G) c.5748T>G (p.Pro1916=) c.5658T>G (p.Pro1886=) c.5709T>G (p.Pro1903=) n.6745T>G | |
| 18 | g.10705380A>G | CA503243185 | PIEZO2 | c.5691T>C (p.Pro1897=) c.699T>C (p.Pro233=) c.5955T>C (p.Pro1985=) c.5616T>C (p.Pro1872=) c.5469T>C (p.Pro1823=) c.5822T>C (n.5822T>C) c.5748T>C (p.Pro1916=) c.5658T>C (p.Pro1886=) c.5709T>C (p.Pro1903=) n.6745T>C | |
| 18 | g.10705380A>T | CA503243184 | PIEZO2 | c.5691T>A (p.Pro1897=) c.699T>A (p.Pro233=) c.5955T>A (p.Pro1985=) c.5616T>A (p.Pro1872=) c.5469T>A (p.Pro1823=) c.5822T>A (n.5822T>A) c.5748T>A (p.Pro1916=) c.5658T>A (p.Pro1886=) c.5709T>A (p.Pro1903=) n.6745T>A | |
| 18 | g.10705381G>A | CA401910296 | PIEZO2 | c.5690C>T (p.Pro1897Leu) c.698C>T (p.Pro233Leu) c.5954C>T (p.Pro1985Leu) c.5615C>T (p.Pro1872Leu) c.5468C>T (p.Pro1823Leu) c.5821C>T (n.5821C>T) c.5747C>T (p.Pro1916Leu) c.5657C>T (p.Pro1886Leu) c.5708C>T (p.Pro1903Leu) n.6744C>T | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.10705381G>C | CA401910298 | PIEZO2 | c.5690C>G (p.Pro1897Arg) c.698C>G (p.Pro233Arg) c.5954C>G (p.Pro1985Arg) c.5615C>G (p.Pro1872Arg) c.5468C>G (p.Pro1823Arg) c.5821C>G (n.5821C>G) c.5747C>G (p.Pro1916Arg) c.5657C>G (p.Pro1886Arg) c.5708C>G (p.Pro1903Arg) n.6744C>G | |
| 18 | g.10705381G= | CA2284425242 | PIEZO2 | c.5690C= (p.Pro1897=) c.698C= (p.Pro233=) c.5954C= (p.Pro1985=) c.5615C= (p.Pro1872=) c.5468C= (p.Pro1823=) c.5821C= (n.5821C=) c.5747C= (p.Pro1916=) c.5657C= (p.Pro1886=) c.5708C= (p.Pro1903=) n.6744C= | |
| 18 | g.10705381G>T | CA401910297 | PIEZO2 | c.5690C>A (p.Pro1897His) c.698C>A (p.Pro233His) c.5954C>A (p.Pro1985His) c.5615C>A (p.Pro1872His) c.5468C>A (p.Pro1823His) c.5821C>A (n.5821C>A) c.5747C>A (p.Pro1916His) c.5657C>A (p.Pro1886His) c.5708C>A (p.Pro1903His) n.6744C>A | |
| 18 | g.10705382G>A | CA401910299 | PIEZO2 | c.5689C>T (p.Pro1897Ser) c.697C>T (p.Pro233Ser) c.5953C>T (p.Pro1985Ser) c.5614C>T (p.Pro1872Ser) c.5467C>T (p.Pro1823Ser) c.5820C>T (n.5820C>T) c.5746C>T (p.Pro1916Ser) c.5656C>T (p.Pro1886Ser) c.5707C>T (p.Pro1903Ser) n.6743C>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.10705382G>C | CA401910300 | PIEZO2 | c.5689C>G (p.Pro1897Ala) c.697C>G (p.Pro233Ala) c.5953C>G (p.Pro1985Ala) c.5614C>G (p.Pro1872Ala) c.5467C>G (p.Pro1823Ala) c.5820C>G (n.5820C>G) c.5746C>G (p.Pro1916Ala) c.5656C>G (p.Pro1886Ala) c.5707C>G (p.Pro1903Ala) n.6743C>G | |
| 18 | g.10705382G= | CA2284425243 | PIEZO2 | c.5689C= (p.Pro1897=) c.697C= (p.Pro233=) c.5953C= (p.Pro1985=) c.5614C= (p.Pro1872=) c.5467C= (p.Pro1823=) c.5820C= (n.5820C=) c.5746C= (p.Pro1916=) c.5656C= (p.Pro1886=) c.5707C= (p.Pro1903=) n.6743C= | |
| 18 | g.10705382G>T | CA401910301 | PIEZO2 | c.5689C>A (p.Pro1897Thr) c.697C>A (p.Pro233Thr) c.5953C>A (p.Pro1985Thr) c.5614C>A (p.Pro1872Thr) c.5467C>A (p.Pro1823Thr) c.5820C>A (n.5820C>A) c.5746C>A (p.Pro1916Thr) c.5656C>A (p.Pro1886Thr) c.5707C>A (p.Pro1903Thr) n.6743C>A | |
| 18 | g.10705383T>A | CA401910302 | PIEZO2 | c.5688A>T (p.Leu1896Phe) c.696A>T (p.Leu232Phe) c.5952A>T (p.Leu1984Phe) c.5613A>T (p.Leu1871Phe) c.5466A>T (p.Leu1822Phe) c.5819A>T (n.5819A>T) c.5745A>T (p.Leu1915Phe) c.5655A>T (p.Leu1885Phe) c.5706A>T (p.Leu1902Phe) n.6742A>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.10705383T>C | CA295991230 | PIEZO2 | c.5688A>G (p.Leu1896=) c.696A>G (p.Leu232=) c.5952A>G (p.Leu1984=) c.5613A>G (p.Leu1871=) c.5466A>G (p.Leu1822=) c.5819A>G (n.5819A>G) c.5745A>G (p.Leu1915=) c.5655A>G (p.Leu1885=) c.5706A>G (p.Leu1902=) n.6742A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.10705383T>G | CA401910303 | PIEZO2 | c.5688A>C (p.Leu1896Phe) c.696A>C (p.Leu232Phe) c.5952A>C (p.Leu1984Phe) c.5613A>C (p.Leu1871Phe) c.5466A>C (p.Leu1822Phe) c.5819A>C (n.5819A>C) c.5745A>C (p.Leu1915Phe) c.5655A>C (p.Leu1885Phe) c.5706A>C (p.Leu1902Phe) n.6742A>C | dbSNP |
| 18 | g.10705383T= | CA2284425244 | PIEZO2 | c.5688A= (p.Leu1896=) c.696A= (p.Leu232=) c.5952A= (p.Leu1984=) c.5613A= (p.Leu1871=) c.5466A= (p.Leu1822=) c.5819A= (n.5819A=) c.5745A= (p.Leu1915=) c.5655A= (p.Leu1885=) c.5706A= (p.Leu1902=) n.6742A= | |
| 18 | g.10705384A>C | CA401910304 | PIEZO2 | c.5687T>G (p.Leu1896Ter) c.695T>G (p.Leu232Ter) c.5951T>G (p.Leu1984Ter) c.5612T>G (p.Leu1871Ter) c.5465T>G (p.Leu1822Ter) c.5818T>G (n.5818T>G) c.5744T>G (p.Leu1915Ter) c.5654T>G (p.Leu1885Ter) c.5705T>G (p.Leu1902Ter) n.6741T>G | |
| 18 | g.10705384A>G | CA401910305 | PIEZO2 | c.5687T>C (p.Leu1896Ser) c.695T>C (p.Leu232Ser) c.5951T>C (p.Leu1984Ser) c.5612T>C (p.Leu1871Ser) c.5465T>C (p.Leu1822Ser) c.5818T>C (n.5818T>C) c.5744T>C (p.Leu1915Ser) c.5654T>C (p.Leu1885Ser) c.5705T>C (p.Leu1902Ser) n.6741T>C | gnomAD v4 |
| 18 | g.10705384A>T | CA401910306 | PIEZO2 | c.5687T>A (p.Leu1896Ter) c.695T>A (p.Leu232Ter) c.5951T>A (p.Leu1984Ter) c.5612T>A (p.Leu1871Ter) c.5465T>A (p.Leu1822Ter) c.5818T>A (n.5818T>A) c.5744T>A (p.Leu1915Ter) c.5654T>A (p.Leu1885Ter) c.5705T>A (p.Leu1902Ter) n.6741T>A | |
| 18 | g.10705385A>C | CA401910307 | PIEZO2 | c.5686T>G (p.Leu1896Val) c.694T>G (p.Leu232Val) c.5950T>G (p.Leu1984Val) c.5611T>G (p.Leu1871Val) c.5464T>G (p.Leu1822Val) c.5817T>G (n.5817T>G) c.5743T>G (p.Leu1915Val) c.5653T>G (p.Leu1885Val) c.5704T>G (p.Leu1902Val) n.6740T>G | |
| 18 | g.10705385A>G | CA503243190 | PIEZO2 | c.5686T>C (p.Leu1896=) c.694T>C (p.Leu232=) c.5950T>C (p.Leu1984=) c.5611T>C (p.Leu1871=) c.5464T>C (p.Leu1822=) c.5817T>C (n.5817T>C) c.5743T>C (p.Leu1915=) c.5653T>C (p.Leu1885=) c.5704T>C (p.Leu1902=) n.6740T>C | |
| 18 | g.10705385A>T | CA401910308 | PIEZO2 | c.5686T>A (p.Leu1896Ile) c.694T>A (p.Leu232Ile) c.5950T>A (p.Leu1984Ile) c.5611T>A (p.Leu1871Ile) c.5464T>A (p.Leu1822Ile) c.5817T>A (n.5817T>A) c.5743T>A (p.Leu1915Ile) c.5653T>A (p.Leu1885Ile) c.5704T>A (p.Leu1902Ile) n.6740T>A | |
| 18 | g.10705386G>A | CA503243191 | PIEZO2 | c.5685C>T (p.Ile1895=) c.693C>T (p.Ile231=) c.5949C>T (p.Ile1983=) c.5610C>T (p.Ile1870=) c.5463C>T (p.Ile1821=) c.5816C>T (n.5816C>T) c.5742C>T (p.Ile1914=) c.5652C>T (p.Ile1884=) c.5703C>T (p.Ile1901=) n.6739C>T | |
| 18 | g.10705386G>C | CA401910309 | PIEZO2 | c.5685C>G (p.Ile1895Met) c.693C>G (p.Ile231Met) c.5949C>G (p.Ile1983Met) c.5610C>G (p.Ile1870Met) c.5463C>G (p.Ile1821Met) c.5816C>G (n.5816C>G) c.5742C>G (p.Ile1914Met) c.5652C>G (p.Ile1884Met) c.5703C>G (p.Ile1901Met) n.6739C>G | |
| 18 | g.10705386G>T | CA503243193 | PIEZO2 | c.5685C>A (p.Ile1895=) c.693C>A (p.Ile231=) c.5949C>A (p.Ile1983=) c.5610C>A (p.Ile1870=) c.5463C>A (p.Ile1821=) c.5816C>A (n.5816C>A) c.5742C>A (p.Ile1914=) c.5652C>A (p.Ile1884=) c.5703C>A (p.Ile1901=) n.6739C>A | |
| 18 | g.10705387A>C | CA401910310 | PIEZO2 | c.5684T>G (p.Ile1895Ser) c.692T>G (p.Ile231Ser) c.5948T>G (p.Ile1983Ser) c.5609T>G (p.Ile1870Ser) c.5462T>G (p.Ile1821Ser) c.5815T>G (n.5815T>G) c.5741T>G (p.Ile1914Ser) c.5651T>G (p.Ile1884Ser) c.5702T>G (p.Ile1901Ser) n.6738T>G | |
| 18 | g.10705387A>G | CA401910312 | PIEZO2 | c.5684T>C (p.Ile1895Thr) c.692T>C (p.Ile231Thr) c.5948T>C (p.Ile1983Thr) c.5609T>C (p.Ile1870Thr) c.5462T>C (p.Ile1821Thr) c.5815T>C (n.5815T>C) c.5741T>C (p.Ile1914Thr) c.5651T>C (p.Ile1884Thr) c.5702T>C (p.Ile1901Thr) n.6738T>C | gnomAD v4 |
| 18 | g.10705387A>T | CA401910311 | PIEZO2 | c.5684T>A (p.Ile1895Asn) c.692T>A (p.Ile231Asn) c.5948T>A (p.Ile1983Asn) c.5609T>A (p.Ile1870Asn) c.5462T>A (p.Ile1821Asn) c.5815T>A (n.5815T>A) c.5741T>A (p.Ile1914Asn) c.5651T>A (p.Ile1884Asn) c.5702T>A (p.Ile1901Asn) n.6738T>A | gnomAD v4 |
| 18 | g.10705388T>A | CA401910313 | PIEZO2 | c.5683A>T (p.Ile1895Phe) c.691A>T (p.Ile231Phe) c.5947A>T (p.Ile1983Phe) c.5608A>T (p.Ile1870Phe) c.5461A>T (p.Ile1821Phe) c.5814A>T (n.5814A>T) c.5740A>T (p.Ile1914Phe) c.5650A>T (p.Ile1884Phe) c.5701A>T (p.Ile1901Phe) n.6737A>T | dbSNP gnomAD v2 |
| 18 | g.10705388T>C | CA401910314 | PIEZO2 | c.5683A>G (p.Ile1895Val) c.691A>G (p.Ile231Val) c.5947A>G (p.Ile1983Val) c.5608A>G (p.Ile1870Val) c.5461A>G (p.Ile1821Val) c.5814A>G (n.5814A>G) c.5740A>G (p.Ile1914Val) c.5650A>G (p.Ile1884Val) c.5701A>G (p.Ile1901Val) n.6737A>G | gnomAD v4 |
| 18 | g.10705388T>G | CA401910315 | PIEZO2 | c.5683A>C (p.Ile1895Leu) c.691A>C (p.Ile231Leu) c.5947A>C (p.Ile1983Leu) c.5608A>C (p.Ile1870Leu) c.5461A>C (p.Ile1821Leu) c.5814A>C (n.5814A>C) c.5740A>C (p.Ile1914Leu) c.5650A>C (p.Ile1884Leu) c.5701A>C (p.Ile1901Leu) n.6737A>C | |
| 18 | g.10705388T= | CA2284425245 | PIEZO2 | c.5683A= (p.Ile1895=) c.691A= (p.Ile231=) c.5947A= (p.Ile1983=) c.5608A= (p.Ile1870=) c.5461A= (p.Ile1821=) c.5814A= (n.5814A=) c.5740A= (p.Ile1914=) c.5650A= (p.Ile1884=) c.5701A= (p.Ile1901=) n.6737A= |