Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.46411733_46411756dup | CA2655023821 | PCNT | n.5_28dup c.5693_5716dup (p.Val1905_Leu1906insHisSerAlaGluLeuGluAlaVal) c.*4903_*4926dup (n.*4903_*4926dup) c.5660_5683dup (p.Val1894_Leu1895insHisSerAlaGluLeuGluAlaVal) n.5929_5952dup c.5306_5329dup (p.Val1776_Leu1777insHisSerAlaGluLeuGluAlaVal) c.5771_5794dup (p.Val1931_Leu1932insHisSerAlaGluLeuGluAlaVal) c.5741_5764dup (p.Val1921_Leu1922insHisSerAlaGluLeuGluAlaVal) c.5339_5362dup (p.Val1787_Leu1788insHisSerAlaGluLeuGluAlaVal) c.4577_4600dup (p.Val1533_Leu1534insHisSerAlaGluLeuGluAlaVal) c.3473_3496dup (p.Val1165_Leu1166insHisSerAlaGluLeuGluAlaVal) | gnomAD v4 |
21 | g.46411742A>C | CA410555818 | PCNT | n.14A>C c.5702A>C (p.Glu1901Ala) c.*4912A>C (n.*4912A>C) c.5669A>C (p.Glu1890Ala) n.5938A>C c.5315A>C (p.Glu1772Ala) c.5780A>C (p.Glu1927Ala) c.5750A>C (p.Glu1917Ala) c.5348A>C (p.Glu1783Ala) c.4586A>C (p.Glu1529Ala) c.3482A>C (p.Glu1161Ala) | |
21 | g.46411742A>G | CA410555821 | PCNT | n.14A>G c.5702A>G (p.Glu1901Gly) c.*4912A>G (n.*4912A>G) c.5669A>G (p.Glu1890Gly) n.5938A>G c.5315A>G (p.Glu1772Gly) c.5780A>G (p.Glu1927Gly) c.5750A>G (p.Glu1917Gly) c.5348A>G (p.Glu1783Gly) c.4586A>G (p.Glu1529Gly) c.3482A>G (p.Glu1161Gly) | |
21 | g.46411742A>T | CA410555820 | PCNT | n.14A>T c.5702A>T (p.Glu1901Val) c.*4912A>T (n.*4912A>T) c.5669A>T (p.Glu1890Val) n.5938A>T c.5315A>T (p.Glu1772Val) c.5780A>T (p.Glu1927Val) c.5750A>T (p.Glu1917Val) c.5348A>T (p.Glu1783Val) c.4586A>T (p.Glu1529Val) c.3482A>T (p.Glu1161Val) | |
21 | g.46411743G>A | CA513174313 | PCNT | n.15G>A c.5703G>A (p.Glu1901=) c.*4913G>A (n.*4913G>A) c.5670G>A (p.Glu1890=) n.5939G>A c.5316G>A (p.Glu1772=) c.5781G>A (p.Glu1927=) c.5751G>A (p.Glu1917=) c.5349G>A (p.Glu1783=) c.4587G>A (p.Glu1529=) c.3483G>A (p.Glu1161=) | |
21 | g.46411743G>C | CA410555823 | PCNT | n.15G>C c.5703G>C (p.Glu1901Asp) c.*4913G>C (n.*4913G>C) c.5670G>C (p.Glu1890Asp) n.5939G>C c.5316G>C (p.Glu1772Asp) c.5781G>C (p.Glu1927Asp) c.5751G>C (p.Glu1917Asp) c.5349G>C (p.Glu1783Asp) c.4587G>C (p.Glu1529Asp) c.3483G>C (p.Glu1161Asp) | |
21 | g.46411743G>T | CA410555827 | PCNT | n.15G>T c.5703G>T (p.Glu1901Asp) c.*4913G>T (n.*4913G>T) c.5670G>T (p.Glu1890Asp) n.5939G>T c.5316G>T (p.Glu1772Asp) c.5781G>T (p.Glu1927Asp) c.5751G>T (p.Glu1917Asp) c.5349G>T (p.Glu1783Asp) c.4587G>T (p.Glu1529Asp) c.3483G>T (p.Glu1161Asp) | |
21 | g.46411744C>A | CA410555848 | PCNT | n.16C>A c.5704C>A (p.Leu1902Met) c.*4914C>A (n.*4914C>A) c.5671C>A (p.Leu1891Met) n.5940C>A c.5317C>A (p.Leu1773Met) c.5782C>A (p.Leu1928Met) c.5752C>A (p.Leu1918Met) c.5350C>A (p.Leu1784Met) c.4588C>A (p.Leu1530Met) c.3484C>A (p.Leu1162Met) | |
21 | g.46411744C>G | CA410555854 | PCNT | n.16C>G c.5704C>G (p.Leu1902Val) c.*4914C>G (n.*4914C>G) c.5671C>G (p.Leu1891Val) n.5940C>G c.5317C>G (p.Leu1773Val) c.5782C>G (p.Leu1928Val) c.5752C>G (p.Leu1918Val) c.5350C>G (p.Leu1784Val) c.4588C>G (p.Leu1530Val) c.3484C>G (p.Leu1162Val) | |
21 | g.46411744C>T | CA513174317 | PCNT | n.16C>T c.5704C>T (p.Leu1902=) c.*4914C>T (n.*4914C>T) c.5671C>T (p.Leu1891=) n.5940C>T c.5317C>T (p.Leu1773=) c.5782C>T (p.Leu1928=) c.5752C>T (p.Leu1918=) c.5350C>T (p.Leu1784=) c.4588C>T (p.Leu1530=) c.3484C>T (p.Leu1162=) | gnomAD v4 |
21 | g.46411745T>A | CA410555858 | PCNT | n.17T>A c.5705T>A (p.Leu1902Gln) c.*4915T>A (n.*4915T>A) c.5672T>A (p.Leu1891Gln) n.5941T>A c.5318T>A (p.Leu1773Gln) c.5783T>A (p.Leu1928Gln) c.5753T>A (p.Leu1918Gln) c.5351T>A (p.Leu1784Gln) c.4589T>A (p.Leu1530Gln) c.3485T>A (p.Leu1162Gln) | |
21 | g.46411745T>C | CA410555885 | PCNT | n.17T>C c.5705T>C (p.Leu1902Pro) c.*4915T>C (n.*4915T>C) c.5672T>C (p.Leu1891Pro) n.5941T>C c.5318T>C (p.Leu1773Pro) c.5783T>C (p.Leu1928Pro) c.5753T>C (p.Leu1918Pro) c.5351T>C (p.Leu1784Pro) c.4589T>C (p.Leu1530Pro) c.3485T>C (p.Leu1162Pro) | |
21 | g.46411745T>G | CA410555861 | PCNT | n.17T>G c.5705T>G (p.Leu1902Arg) c.*4915T>G (n.*4915T>G) c.5672T>G (p.Leu1891Arg) n.5941T>G c.5318T>G (p.Leu1773Arg) c.5783T>G (p.Leu1928Arg) c.5753T>G (p.Leu1918Arg) c.5351T>G (p.Leu1784Arg) c.4589T>G (p.Leu1530Arg) c.3485T>G (p.Leu1162Arg) | |
21 | g.46411746G>A | CA321998114 | PCNT | n.18G>A c.5706G>A (p.Leu1902=) c.*4916G>A (n.*4916G>A) c.5673G>A (p.Leu1891=) n.5942G>A c.5319G>A (p.Leu1773=) c.5784G>A (p.Leu1928=) c.5754G>A (p.Leu1918=) c.5352G>A (p.Leu1784=) c.4590G>A (p.Leu1530=) c.3486G>A (p.Leu1162=) | dbSNP |
21 | g.46411746G>C | CA513174322 | PCNT | n.18G>C c.5706G>C (p.Leu1902=) c.*4916G>C (n.*4916G>C) c.5673G>C (p.Leu1891=) n.5942G>C c.5319G>C (p.Leu1773=) c.5784G>C (p.Leu1928=) c.5754G>C (p.Leu1918=) c.5352G>C (p.Leu1784=) c.4590G>C (p.Leu1530=) c.3486G>C (p.Leu1162=) | |
21 | g.46411746G= | CA2392665034 | PCNT | n.18G= c.5706G= (p.Leu1902=) c.*4916G= (n.*4916G=) c.5673G= (p.Leu1891=) n.5942G= c.5319G= (p.Leu1773=) c.5784G= (p.Leu1928=) c.5754G= (p.Leu1918=) c.5352G= (p.Leu1784=) c.4590G= (p.Leu1530=) c.3486G= (p.Leu1162=) | |
21 | g.46411746G>T | CA513174323 | PCNT | n.18G>T c.5706G>T (p.Leu1902=) c.*4916G>T (n.*4916G>T) c.5673G>T (p.Leu1891=) n.5942G>T c.5319G>T (p.Leu1773=) c.5784G>T (p.Leu1928=) c.5754G>T (p.Leu1918=) c.5352G>T (p.Leu1784=) c.4590G>T (p.Leu1530=) c.3486G>T (p.Leu1162=) | |
21 | g.46411747G>A | CA410555886 | PCNT | n.19G>A c.5707G>A (p.Glu1903Lys) c.*4917G>A (n.*4917G>A) c.5674G>A (p.Glu1892Lys) n.5943G>A c.5320G>A (p.Glu1774Lys) c.5785G>A (p.Glu1929Lys) c.5755G>A (p.Glu1919Lys) c.5353G>A (p.Glu1785Lys) c.4591G>A (p.Glu1531Lys) c.3487G>A (p.Glu1163Lys) | |
21 | g.46411747G>C | CA410555887 | PCNT | n.19G>C c.5707G>C (p.Glu1903Gln) c.*4917G>C (n.*4917G>C) c.5674G>C (p.Glu1892Gln) n.5943G>C c.5320G>C (p.Glu1774Gln) c.5785G>C (p.Glu1929Gln) c.5755G>C (p.Glu1919Gln) c.5353G>C (p.Glu1785Gln) c.4591G>C (p.Glu1531Gln) c.3487G>C (p.Glu1163Gln) | |
21 | g.46411747G>T | CA410555896 | PCNT | n.19G>T c.5707G>T (p.Glu1903Ter) c.*4917G>T (n.*4917G>T) c.5674G>T (p.Glu1892Ter) n.5943G>T c.5320G>T (p.Glu1774Ter) c.5785G>T (p.Glu1929Ter) c.5755G>T (p.Glu1919Ter) c.5353G>T (p.Glu1785Ter) c.4591G>T (p.Glu1531Ter) c.3487G>T (p.Glu1163Ter) | gnomAD v4 |
21 | g.46411748A>C | CA410555899 | PCNT | n.20A>C c.5708A>C (p.Glu1903Ala) c.*4918A>C (n.*4918A>C) c.5675A>C (p.Glu1892Ala) n.5944A>C c.5321A>C (p.Glu1774Ala) c.5786A>C (p.Glu1929Ala) c.5756A>C (p.Glu1919Ala) c.5354A>C (p.Glu1785Ala) c.4592A>C (p.Glu1531Ala) c.3488A>C (p.Glu1163Ala) | |
21 | g.46411748A>G | CA410555904 | PCNT | n.20A>G c.5708A>G (p.Glu1903Gly) c.*4918A>G (n.*4918A>G) c.5675A>G (p.Glu1892Gly) n.5944A>G c.5321A>G (p.Glu1774Gly) c.5786A>G (p.Glu1929Gly) c.5756A>G (p.Glu1919Gly) c.5354A>G (p.Glu1785Gly) c.4592A>G (p.Glu1531Gly) c.3488A>G (p.Glu1163Gly) | |
21 | g.46411748A>T | CA410555906 | PCNT | n.20A>T c.5708A>T (p.Glu1903Val) c.*4918A>T (n.*4918A>T) c.5675A>T (p.Glu1892Val) n.5944A>T c.5321A>T (p.Glu1774Val) c.5786A>T (p.Glu1929Val) c.5756A>T (p.Glu1919Val) c.5354A>T (p.Glu1785Val) c.4592A>T (p.Glu1531Val) c.3488A>T (p.Glu1163Val) | |
21 | g.46411749G>A | CA513174327 | PCNT | n.21G>A c.5709G>A (p.Glu1903=) c.*4919G>A (n.*4919G>A) c.5676G>A (p.Glu1892=) n.5945G>A c.5322G>A (p.Glu1774=) c.5787G>A (p.Glu1929=) c.5757G>A (p.Glu1919=) c.5355G>A (p.Glu1785=) c.4593G>A (p.Glu1531=) c.3489G>A (p.Glu1163=) | |
21 | g.46411749G>C | CA410555914 | PCNT | n.21G>C c.5709G>C (p.Glu1903Asp) c.*4919G>C (n.*4919G>C) c.5676G>C (p.Glu1892Asp) n.5945G>C c.5322G>C (p.Glu1774Asp) c.5787G>C (p.Glu1929Asp) c.5757G>C (p.Glu1919Asp) c.5355G>C (p.Glu1785Asp) c.4593G>C (p.Glu1531Asp) c.3489G>C (p.Glu1163Asp) | |
21 | g.46411749G>T | CA410555915 | PCNT | n.21G>T c.5709G>T (p.Glu1903Asp) c.*4919G>T (n.*4919G>T) c.5676G>T (p.Glu1892Asp) n.5945G>T c.5322G>T (p.Glu1774Asp) c.5787G>T (p.Glu1929Asp) c.5757G>T (p.Glu1919Asp) c.5355G>T (p.Glu1785Asp) c.4593G>T (p.Glu1531Asp) c.3489G>T (p.Glu1163Asp) | |
21 | g.46411750dup | CA2842673644 | PCNT | n.22dup c.5710dup (p.Ala1904GlyfsTer?) c.*4920dup (n.*4920dup) c.5677dup (p.Ala1893GlyfsTer?) n.5946dup c.5323dup (p.Ala1775GlyfsTer?) c.5788dup (p.Ala1930GlyfsTer?) c.5758dup (p.Ala1920GlyfsTer?) c.5356dup (p.Ala1786GlyfsTer?) c.4594dup (p.Ala1532GlyfsTer?) c.3490dup (p.Ala1164GlyfsTer?) | |
21 | g.46411750G>A | CA410555918 | PCNT | n.22G>A c.5710G>A (p.Ala1904Thr) c.*4920G>A (n.*4920G>A) c.5677G>A (p.Ala1893Thr) n.5946G>A c.5323G>A (p.Ala1775Thr) c.5788G>A (p.Ala1930Thr) c.5758G>A (p.Ala1920Thr) c.5356G>A (p.Ala1786Thr) c.4594G>A (p.Ala1532Thr) c.3490G>A (p.Ala1164Thr) | |
21 | g.46411750G>C | CA410555922 | PCNT | n.22G>C c.5710G>C (p.Ala1904Pro) c.*4920G>C (n.*4920G>C) c.5677G>C (p.Ala1893Pro) n.5946G>C c.5323G>C (p.Ala1775Pro) c.5788G>C (p.Ala1930Pro) c.5758G>C (p.Ala1920Pro) c.5356G>C (p.Ala1786Pro) c.4594G>C (p.Ala1532Pro) c.3490G>C (p.Ala1164Pro) | dbSNP |
21 | g.46411750G= | CA2392665035 | PCNT | n.22G= c.5710G= (p.Ala1904=) c.*4920G= (n.*4920G=) c.5677G= (p.Ala1893=) n.5946G= c.5323G= (p.Ala1775=) c.5788G= (p.Ala1930=) c.5758G= (p.Ala1920=) c.5356G= (p.Ala1786=) c.4594G= (p.Ala1532=) c.3490G= (p.Ala1164=) | |
21 | g.46411750G>T | CA251087 | PCNT | n.22G>T c.5710G>T (p.Ala1904Ser) c.*4920G>T (n.*4920G>T) c.5677G>T (p.Ala1893Ser) n.5946G>T c.5323G>T (p.Ala1775Ser) c.5788G>T (p.Ala1930Ser) c.5758G>T (p.Ala1920Ser) c.5356G>T (p.Ala1786Ser) c.4594G>T (p.Ala1532Ser) c.3490G>T (p.Ala1164Ser) | ClinVar dbSNP gnomAD v4 |
21 | g.46411751C>A | CA410555928 | PCNT | n.23C>A c.5711C>A (p.Ala1904Asp) c.*4921C>A (n.*4921C>A) c.5678C>A (p.Ala1893Asp) n.5947C>A c.5324C>A (p.Ala1775Asp) c.5789C>A (p.Ala1930Asp) c.5759C>A (p.Ala1920Asp) c.5357C>A (p.Ala1786Asp) c.4595C>A (p.Ala1532Asp) c.3491C>A (p.Ala1164Asp) | |
21 | g.46411751C= | CA2392665036 | PCNT | n.23C= c.5711C= (p.Ala1904=) c.*4921C= (n.*4921C=) c.5678C= (p.Ala1893=) n.5947C= c.5324C= (p.Ala1775=) c.5789C= (p.Ala1930=) c.5759C= (p.Ala1920=) c.5357C= (p.Ala1786=) c.4595C= (p.Ala1532=) c.3491C= (p.Ala1164=) | |
21 | g.46411751C>G | CA410555924 | PCNT | n.23C>G c.5711C>G (p.Ala1904Gly) c.*4921C>G (n.*4921C>G) c.5678C>G (p.Ala1893Gly) n.5947C>G c.5324C>G (p.Ala1775Gly) c.5789C>G (p.Ala1930Gly) c.5759C>G (p.Ala1920Gly) c.5357C>G (p.Ala1786Gly) c.4595C>G (p.Ala1532Gly) c.3491C>G (p.Ala1164Gly) | |
21 | g.46411751C>T | CA410555923 | PCNT | n.23C>T c.5711C>T (p.Ala1904Val) c.*4921C>T (n.*4921C>T) c.5678C>T (p.Ala1893Val) n.5947C>T c.5324C>T (p.Ala1775Val) c.5789C>T (p.Ala1930Val) c.5759C>T (p.Ala1920Val) c.5357C>T (p.Ala1786Val) c.4595C>T (p.Ala1532Val) c.3491C>T (p.Ala1164Val) | dbSNP gnomAD v4 |
21 | g.46411752C>A | CA10080057 | PCNT | n.24C>A c.5712C>A (p.Ala1904=) c.*4922C>A (n.*4922C>A) c.5679C>A (p.Ala1893=) n.5948C>A c.5325C>A (p.Ala1775=) c.5790C>A (p.Ala1930=) c.5760C>A (p.Ala1920=) c.5358C>A (p.Ala1786=) c.4596C>A (p.Ala1532=) c.3492C>A (p.Ala1164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411752C= | CA2392665037 | PCNT | n.24C= c.5712C= (p.Ala1904=) c.*4922C= (n.*4922C=) c.5679C= (p.Ala1893=) n.5948C= c.5325C= (p.Ala1775=) c.5790C= (p.Ala1930=) c.5760C= (p.Ala1920=) c.5358C= (p.Ala1786=) c.4596C= (p.Ala1532=) c.3492C= (p.Ala1164=) | |
21 | g.46411752C>G | CA10080056 | PCNT | n.24C>G c.5712C>G (p.Ala1904=) c.*4922C>G (n.*4922C>G) c.5679C>G (p.Ala1893=) n.5948C>G c.5325C>G (p.Ala1775=) c.5790C>G (p.Ala1930=) c.5760C>G (p.Ala1920=) c.5358C>G (p.Ala1786=) c.4596C>G (p.Ala1532=) c.3492C>G (p.Ala1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411752C>T | CA10080058 | PCNT | n.24C>T c.5712C>T (p.Ala1904=) c.*4922C>T (n.*4922C>T) c.5679C>T (p.Ala1893=) n.5948C>T c.5325C>T (p.Ala1775=) c.5790C>T (p.Ala1930=) c.5760C>T (p.Ala1920=) c.5358C>T (p.Ala1786=) c.4596C>T (p.Ala1532=) c.3492C>T (p.Ala1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411753G>A | CA10080059 | PCNT | n.25G>A c.5713G>A (p.Val1905Ile) c.*4923G>A (n.*4923G>A) c.5680G>A (p.Val1894Ile) n.5949G>A c.5326G>A (p.Val1776Ile) c.5791G>A (p.Val1931Ile) c.5761G>A (p.Val1921Ile) c.5359G>A (p.Val1787Ile) c.4597G>A (p.Val1533Ile) c.3493G>A (p.Val1165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411753G>C | CA410555945 | PCNT | n.25G>C c.5713G>C (p.Val1905Leu) c.*4923G>C (n.*4923G>C) c.5680G>C (p.Val1894Leu) n.5949G>C c.5326G>C (p.Val1776Leu) c.5791G>C (p.Val1931Leu) c.5761G>C (p.Val1921Leu) c.5359G>C (p.Val1787Leu) c.4597G>C (p.Val1533Leu) c.3493G>C (p.Val1165Leu) | |
21 | g.46411753G= | CA2392665038 | PCNT | n.25G= c.5713G= (p.Val1905=) c.*4923G= (n.*4923G=) c.5680G= (p.Val1894=) n.5949G= c.5326G= (p.Val1776=) c.5791G= (p.Val1931=) c.5761G= (p.Val1921=) c.5359G= (p.Val1787=) c.4597G= (p.Val1533=) c.3493G= (p.Val1165=) | |
21 | g.46411753G>T | CA410555951 | PCNT | n.25G>T c.5713G>T (p.Val1905Phe) c.*4923G>T (n.*4923G>T) c.5680G>T (p.Val1894Phe) n.5949G>T c.5326G>T (p.Val1776Phe) c.5791G>T (p.Val1931Phe) c.5761G>T (p.Val1921Phe) c.5359G>T (p.Val1787Phe) c.4597G>T (p.Val1533Phe) c.3493G>T (p.Val1165Phe) | |
21 | g.46411754T>A | CA410555953 | PCNT | n.26T>A c.5714T>A (p.Val1905Asp) c.*4924T>A (n.*4924T>A) c.5681T>A (p.Val1894Asp) n.5950T>A c.5327T>A (p.Val1776Asp) c.5792T>A (p.Val1931Asp) c.5762T>A (p.Val1921Asp) c.5360T>A (p.Val1787Asp) c.4598T>A (p.Val1533Asp) c.3494T>A (p.Val1165Asp) | |
21 | g.46411754T>C | CA410555958 | PCNT | n.26T>C c.5714T>C (p.Val1905Ala) c.*4924T>C (n.*4924T>C) c.5681T>C (p.Val1894Ala) n.5950T>C c.5327T>C (p.Val1776Ala) c.5792T>C (p.Val1931Ala) c.5762T>C (p.Val1921Ala) c.5360T>C (p.Val1787Ala) c.4598T>C (p.Val1533Ala) c.3494T>C (p.Val1165Ala) | |
21 | g.46411754T>G | CA410555961 | PCNT | n.26T>G c.5714T>G (p.Val1905Gly) c.*4924T>G (n.*4924T>G) c.5681T>G (p.Val1894Gly) n.5950T>G c.5327T>G (p.Val1776Gly) c.5792T>G (p.Val1931Gly) c.5762T>G (p.Val1921Gly) c.5360T>G (p.Val1787Gly) c.4598T>G (p.Val1533Gly) c.3494T>G (p.Val1165Gly) | |
21 | g.46411755C>A | CA513174340 | PCNT | n.27C>A c.5715C>A (p.Val1905=) c.*4925C>A (n.*4925C>A) c.5682C>A (p.Val1894=) n.5951C>A c.5328C>A (p.Val1776=) c.5793C>A (p.Val1931=) c.5763C>A (p.Val1921=) c.5361C>A (p.Val1787=) c.4599C>A (p.Val1533=) c.3495C>A (p.Val1165=) | |
21 | g.46411755C= | CA2392665039 | PCNT | n.27C= c.5715C= (p.Val1905=) c.*4925C= (n.*4925C=) c.5682C= (p.Val1894=) n.5951C= c.5328C= (p.Val1776=) c.5793C= (p.Val1931=) c.5763C= (p.Val1921=) c.5361C= (p.Val1787=) c.4599C= (p.Val1533=) c.3495C= (p.Val1165=) | |
21 | g.46411755C>G | CA513174342 | PCNT | n.27C>G c.5715C>G (p.Val1905=) c.*4925C>G (n.*4925C>G) c.5682C>G (p.Val1894=) n.5951C>G c.5328C>G (p.Val1776=) c.5793C>G (p.Val1931=) c.5763C>G (p.Val1921=) c.5361C>G (p.Val1787=) c.4599C>G (p.Val1533=) c.3495C>G (p.Val1165=) | |
21 | g.46411755C>T | CA321998124 | PCNT | n.27C>T c.5715C>T (p.Val1905=) c.*4925C>T (n.*4925C>T) c.5682C>T (p.Val1894=) n.5951C>T c.5328C>T (p.Val1776=) c.5793C>T (p.Val1931=) c.5763C>T (p.Val1921=) c.5361C>T (p.Val1787=) c.4599C>T (p.Val1533=) c.3495C>T (p.Val1165=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411756C>A | CA410555971 | PCNT | n.28C>A c.5716C>A (p.Leu1906Met) c.*4926C>A (n.*4926C>A) c.5683C>A (p.Leu1895Met) n.5952C>A c.5329C>A (p.Leu1777Met) c.5794C>A (p.Leu1932Met) c.5764C>A (p.Leu1922Met) c.5362C>A (p.Leu1788Met) c.4600C>A (p.Leu1534Met) c.3496C>A (p.Leu1166Met) | |
21 | g.46411756C= | CA2392665040 | PCNT | n.28C= c.5716C= (p.Leu1906=) c.*4926C= (n.*4926C=) c.5683C= (p.Leu1895=) n.5952C= c.5329C= (p.Leu1777=) c.5794C= (p.Leu1932=) c.5764C= (p.Leu1922=) c.5362C= (p.Leu1788=) c.4600C= (p.Leu1534=) c.3496C= (p.Leu1166=) | |
21 | g.46411756C>G | CA410555973 | PCNT | n.28C>G c.5716C>G (p.Leu1906Val) c.*4926C>G (n.*4926C>G) c.5683C>G (p.Leu1895Val) n.5952C>G c.5329C>G (p.Leu1777Val) c.5794C>G (p.Leu1932Val) c.5764C>G (p.Leu1922Val) c.5362C>G (p.Leu1788Val) c.4600C>G (p.Leu1534Val) c.3496C>G (p.Leu1166Val) | |
21 | g.46411756C>T | CA513174343 | PCNT | n.28C>T c.5716C>T (p.Leu1906=) c.*4926C>T (n.*4926C>T) c.5683C>T (p.Leu1895=) n.5952C>T c.5329C>T (p.Leu1777=) c.5794C>T (p.Leu1932=) c.5764C>T (p.Leu1922=) c.5362C>T (p.Leu1788=) c.4600C>T (p.Leu1534=) c.3496C>T (p.Leu1166=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411757T>A | CA410555979 | PCNT | n.29T>A c.5717T>A (p.Leu1906Gln) c.*4927T>A (n.*4927T>A) c.5684T>A (p.Leu1895Gln) n.5953T>A c.5330T>A (p.Leu1777Gln) c.5795T>A (p.Leu1932Gln) c.5765T>A (p.Leu1922Gln) c.5363T>A (p.Leu1788Gln) c.4601T>A (p.Leu1534Gln) c.3497T>A (p.Leu1166Gln) | |
21 | g.46411757T>C | CA410555987 | PCNT | n.29T>C c.5717T>C (p.Leu1906Pro) c.*4927T>C (n.*4927T>C) c.5684T>C (p.Leu1895Pro) n.5953T>C c.5330T>C (p.Leu1777Pro) c.5795T>C (p.Leu1932Pro) c.5765T>C (p.Leu1922Pro) c.5363T>C (p.Leu1788Pro) c.4601T>C (p.Leu1534Pro) c.3497T>C (p.Leu1166Pro) | |
21 | g.46411757T>G | CA410555990 | PCNT | n.29T>G c.5717T>G (p.Leu1906Arg) c.*4927T>G (n.*4927T>G) c.5684T>G (p.Leu1895Arg) n.5953T>G c.5330T>G (p.Leu1777Arg) c.5795T>G (p.Leu1932Arg) c.5765T>G (p.Leu1922Arg) c.5363T>G (p.Leu1788Arg) c.4601T>G (p.Leu1534Arg) c.3497T>G (p.Leu1166Arg) | |
21 | g.46411758G>A | CA10080060 | PCNT | n.30G>A c.5718G>A (p.Leu1906=) c.*4928G>A (n.*4928G>A) c.5685G>A (p.Leu1895=) n.5954G>A c.5331G>A (p.Leu1777=) c.5796G>A (p.Leu1932=) c.5766G>A (p.Leu1922=) c.5364G>A (p.Leu1788=) c.4602G>A (p.Leu1534=) c.3498G>A (p.Leu1166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411758G>C | CA513174347 | PCNT | n.30G>C c.5718G>C (p.Leu1906=) c.*4928G>C (n.*4928G>C) c.5685G>C (p.Leu1895=) n.5954G>C c.5331G>C (p.Leu1777=) c.5796G>C (p.Leu1932=) c.5766G>C (p.Leu1922=) c.5364G>C (p.Leu1788=) c.4602G>C (p.Leu1534=) c.3498G>C (p.Leu1166=) | |
21 | g.46411758G= | CA2392665041 | PCNT | n.30G= c.5718G= (p.Leu1906=) c.*4928G= (n.*4928G=) c.5685G= (p.Leu1895=) n.5954G= c.5331G= (p.Leu1777=) c.5796G= (p.Leu1932=) c.5766G= (p.Leu1922=) c.5364G= (p.Leu1788=) c.4602G= (p.Leu1534=) c.3498G= (p.Leu1166=) | |
21 | g.46411758G>T | CA513174348 | PCNT | n.30G>T c.5718G>T (p.Leu1906=) c.*4928G>T (n.*4928G>T) c.5685G>T (p.Leu1895=) n.5954G>T c.5331G>T (p.Leu1777=) c.5796G>T (p.Leu1932=) c.5766G>T (p.Leu1922=) c.5364G>T (p.Leu1788=) c.4602G>T (p.Leu1534=) c.3498G>T (p.Leu1166=) | gnomAD v4 |
21 | g.46411759T>A | CA410556000 | PCNT | n.31T>A c.5719T>A (p.Leu1907Met) c.*4929T>A (n.*4929T>A) c.5686T>A (p.Leu1896Met) n.5955T>A c.5332T>A (p.Leu1778Met) c.5797T>A (p.Leu1933Met) c.5767T>A (p.Leu1923Met) c.5365T>A (p.Leu1789Met) c.4603T>A (p.Leu1535Met) c.3499T>A (p.Leu1167Met) | |
21 | g.46411759T>C | CA513174349 | PCNT | n.31T>C c.5719T>C (p.Leu1907=) c.*4929T>C (n.*4929T>C) c.5686T>C (p.Leu1896=) n.5955T>C c.5332T>C (p.Leu1778=) c.5797T>C (p.Leu1933=) c.5767T>C (p.Leu1923=) c.5365T>C (p.Leu1789=) c.4603T>C (p.Leu1535=) c.3499T>C (p.Leu1167=) | |
21 | g.46411759T>G | CA410556002 | PCNT | n.31T>G c.5719T>G (p.Leu1907Val) c.*4929T>G (n.*4929T>G) c.5686T>G (p.Leu1896Val) n.5955T>G c.5332T>G (p.Leu1778Val) c.5797T>G (p.Leu1933Val) c.5767T>G (p.Leu1923Val) c.5365T>G (p.Leu1789Val) c.4603T>G (p.Leu1535Val) c.3499T>G (p.Leu1167Val) | |
21 | g.46411760T>A | CA410556003 | PCNT | n.32T>A c.5720T>A (p.Leu1907Ter) c.*4930T>A (n.*4930T>A) c.5687T>A (p.Leu1896Ter) n.5956T>A c.5333T>A (p.Leu1778Ter) c.5798T>A (p.Leu1933Ter) c.5768T>A (p.Leu1923Ter) c.5366T>A (p.Leu1789Ter) c.4604T>A (p.Leu1535Ter) c.3500T>A (p.Leu1167Ter) | |
21 | g.46411760T>C | CA410556004 | PCNT | n.32T>C c.5720T>C (p.Leu1907Ser) c.*4930T>C (n.*4930T>C) c.5687T>C (p.Leu1896Ser) n.5956T>C c.5333T>C (p.Leu1778Ser) c.5798T>C (p.Leu1933Ser) c.5768T>C (p.Leu1923Ser) c.5366T>C (p.Leu1789Ser) c.4604T>C (p.Leu1535Ser) c.3500T>C (p.Leu1167Ser) | |
21 | g.46411760T>G | CA410556008 | PCNT | n.32T>G c.5720T>G (p.Leu1907Trp) c.*4930T>G (n.*4930T>G) c.5687T>G (p.Leu1896Trp) n.5956T>G c.5333T>G (p.Leu1778Trp) c.5798T>G (p.Leu1933Trp) c.5768T>G (p.Leu1923Trp) c.5366T>G (p.Leu1789Trp) c.4604T>G (p.Leu1535Trp) c.3500T>G (p.Leu1167Trp) | gnomAD v4 |
21 | g.46411761G>A | CA513174354 | PCNT | n.33G>A c.5721G>A (p.Leu1907=) c.*4931G>A (n.*4931G>A) c.5688G>A (p.Leu1896=) n.5957G>A c.5334G>A (p.Leu1778=) c.5799G>A (p.Leu1933=) c.5769G>A (p.Leu1923=) c.5367G>A (p.Leu1789=) c.4605G>A (p.Leu1535=) c.3501G>A (p.Leu1167=) | |
21 | g.46411761G>C | CA410556014 | PCNT | n.33G>C c.5721G>C (p.Leu1907Phe) c.*4931G>C (n.*4931G>C) c.5688G>C (p.Leu1896Phe) n.5957G>C c.5334G>C (p.Leu1778Phe) c.5799G>C (p.Leu1933Phe) c.5769G>C (p.Leu1923Phe) c.5367G>C (p.Leu1789Phe) c.4605G>C (p.Leu1535Phe) c.3501G>C (p.Leu1167Phe) | |
21 | g.46411761G>T | CA410556017 | PCNT | n.33G>T c.5721G>T (p.Leu1907Phe) c.*4931G>T (n.*4931G>T) c.5688G>T (p.Leu1896Phe) n.5957G>T c.5334G>T (p.Leu1778Phe) c.5799G>T (p.Leu1933Phe) c.5769G>T (p.Leu1923Phe) c.5367G>T (p.Leu1789Phe) c.4605G>T (p.Leu1535Phe) c.3501G>T (p.Leu1167Phe) | |
21 | g.46411762G>A | CA10080061 | PCNT | n.34G>A c.5722G>A (p.Ala1908Thr) c.*4932G>A (n.*4932G>A) c.5689G>A (p.Ala1897Thr) n.5958G>A c.5335G>A (p.Ala1779Thr) c.5800G>A (p.Ala1934Thr) c.5770G>A (p.Ala1924Thr) c.5368G>A (p.Ala1790Thr) c.4606G>A (p.Ala1536Thr) c.3502G>A (p.Ala1168Thr) | dbSNP ExAC gnomAD v2 |
21 | g.46411762G>C | CA410556023 | PCNT | n.34G>C c.5722G>C (p.Ala1908Pro) c.*4932G>C (n.*4932G>C) c.5689G>C (p.Ala1897Pro) n.5958G>C c.5335G>C (p.Ala1779Pro) c.5800G>C (p.Ala1934Pro) c.5770G>C (p.Ala1924Pro) c.5368G>C (p.Ala1790Pro) c.4606G>C (p.Ala1536Pro) c.3502G>C (p.Ala1168Pro) | |
21 | g.46411762G= | CA2392665042 | PCNT | n.34G= c.5722G= (p.Ala1908=) c.*4932G= (n.*4932G=) c.5689G= (p.Ala1897=) n.5958G= c.5335G= (p.Ala1779=) c.5800G= (p.Ala1934=) c.5770G= (p.Ala1924=) c.5368G= (p.Ala1790=) c.4606G= (p.Ala1536=) c.3502G= (p.Ala1168=) | |
21 | g.46411762G>T | CA410556027 | PCNT | n.34G>T c.5722G>T (p.Ala1908Ser) c.*4932G>T (n.*4932G>T) c.5689G>T (p.Ala1897Ser) n.5958G>T c.5335G>T (p.Ala1779Ser) c.5800G>T (p.Ala1934Ser) c.5770G>T (p.Ala1924Ser) c.5368G>T (p.Ala1790Ser) c.4606G>T (p.Ala1536Ser) c.3502G>T (p.Ala1168Ser) | gnomAD v4 |
21 | g.46411763C>A | CA410556028 | PCNT | n.35C>A c.5723C>A (p.Ala1908Asp) c.*4933C>A (n.*4933C>A) c.5690C>A (p.Ala1897Asp) n.5959C>A c.5336C>A (p.Ala1779Asp) c.5801C>A (p.Ala1934Asp) c.5771C>A (p.Ala1924Asp) c.5369C>A (p.Ala1790Asp) c.4607C>A (p.Ala1536Asp) c.3503C>A (p.Ala1168Asp) | |
21 | g.46411763C= | CA2392665043 | PCNT | n.35C= c.5723C= (p.Ala1908=) c.*4933C= (n.*4933C=) c.5690C= (p.Ala1897=) n.5959C= c.5336C= (p.Ala1779=) c.5801C= (p.Ala1934=) c.5771C= (p.Ala1924=) c.5369C= (p.Ala1790=) c.4607C= (p.Ala1536=) c.3503C= (p.Ala1168=) | |
21 | g.46411763C>G | CA410556029 | PCNT | n.35C>G c.5723C>G (p.Ala1908Gly) c.*4933C>G (n.*4933C>G) c.5690C>G (p.Ala1897Gly) n.5959C>G c.5336C>G (p.Ala1779Gly) c.5801C>G (p.Ala1934Gly) c.5771C>G (p.Ala1924Gly) c.5369C>G (p.Ala1790Gly) c.4607C>G (p.Ala1536Gly) c.3503C>G (p.Ala1168Gly) | |
21 | g.46411763C>T | CA410556030 | PCNT | n.35C>T c.5723C>T (p.Ala1908Val) c.*4933C>T (n.*4933C>T) c.5690C>T (p.Ala1897Val) n.5959C>T c.5336C>T (p.Ala1779Val) c.5801C>T (p.Ala1934Val) c.5771C>T (p.Ala1924Val) c.5369C>T (p.Ala1790Val) c.4607C>T (p.Ala1536Val) c.3503C>T (p.Ala1168Val) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411764del | CA2655023889 | PCNT | n.36del c.5724del (p.Leu1909TrpfsTer?) c.*4934del (n.*4934del) c.5691del (p.Leu1898TrpfsTer?) n.5960del c.5337del (p.Leu1780TrpfsTer?) c.5802del (p.Leu1935TrpfsTer?) c.5772del (p.Leu1925TrpfsTer?) c.5370del (p.Leu1791TrpfsTer?) c.4608del (p.Leu1537TrpfsTer?) c.3504del (p.Leu1169TrpfsTer?) | gnomAD v4 |
21 | g.46411764C>A | CA513174364 | PCNT | n.36C>A c.5724C>A (p.Ala1908=) c.*4934C>A (n.*4934C>A) c.5691C>A (p.Ala1897=) n.5960C>A c.5337C>A (p.Ala1779=) c.5802C>A (p.Ala1934=) c.5772C>A (p.Ala1924=) c.5370C>A (p.Ala1790=) c.4608C>A (p.Ala1536=) c.3504C>A (p.Ala1168=) | |
21 | g.46411764C>G | CA513174363 | PCNT | n.36C>G c.5724C>G (p.Ala1908=) c.*4934C>G (n.*4934C>G) c.5691C>G (p.Ala1897=) n.5960C>G c.5337C>G (p.Ala1779=) c.5802C>G (p.Ala1934=) c.5772C>G (p.Ala1924=) c.5370C>G (p.Ala1790=) c.4608C>G (p.Ala1536=) c.3504C>G (p.Ala1168=) | |
21 | g.46411764C>T | CA513174361 | PCNT | n.36C>T c.5724C>T (p.Ala1908=) c.*4934C>T (n.*4934C>T) c.5691C>T (p.Ala1897=) n.5960C>T c.5337C>T (p.Ala1779=) c.5802C>T (p.Ala1934=) c.5772C>T (p.Ala1924=) c.5370C>T (p.Ala1790=) c.4608C>T (p.Ala1536=) c.3504C>T (p.Ala1168=) | dbSNP |
21 | g.46411765T>A | CA410556032 | PCNT | n.37T>A c.5725T>A (p.Leu1909Met) c.*4935T>A (n.*4935T>A) c.5692T>A (p.Leu1898Met) n.5961T>A c.5338T>A (p.Leu1780Met) c.5803T>A (p.Leu1935Met) c.5773T>A (p.Leu1925Met) c.5371T>A (p.Leu1791Met) c.4609T>A (p.Leu1537Met) c.3505T>A (p.Leu1169Met) | |
21 | g.46411765T>C | CA513174365 | PCNT | n.37T>C c.5725T>C (p.Leu1909=) c.*4935T>C (n.*4935T>C) c.5692T>C (p.Leu1898=) n.5961T>C c.5338T>C (p.Leu1780=) c.5803T>C (p.Leu1935=) c.5773T>C (p.Leu1925=) c.5371T>C (p.Leu1791=) c.4609T>C (p.Leu1537=) c.3505T>C (p.Leu1169=) | |
21 | g.46411765T>G | CA410556034 | PCNT | n.37T>G c.5725T>G (p.Leu1909Val) c.*4935T>G (n.*4935T>G) c.5692T>G (p.Leu1898Val) n.5961T>G c.5338T>G (p.Leu1780Val) c.5803T>G (p.Leu1935Val) c.5773T>G (p.Leu1925Val) c.5371T>G (p.Leu1791Val) c.4609T>G (p.Leu1537Val) c.3505T>G (p.Leu1169Val) | |
21 | g.46411766T>A | CA410556038 | PCNT | n.38T>A c.5726T>A (p.Leu1909Ter) c.*4936T>A (n.*4936T>A) c.5693T>A (p.Leu1898Ter) n.5962T>A c.5339T>A (p.Leu1780Ter) c.5804T>A (p.Leu1935Ter) c.5774T>A (p.Leu1925Ter) c.5372T>A (p.Leu1791Ter) c.4610T>A (p.Leu1537Ter) c.3506T>A (p.Leu1169Ter) | |
21 | g.46411766T>C | CA410556047 | PCNT | n.38T>C c.5726T>C (p.Leu1909Ser) c.*4936T>C (n.*4936T>C) c.5693T>C (p.Leu1898Ser) n.5962T>C c.5339T>C (p.Leu1780Ser) c.5804T>C (p.Leu1935Ser) c.5774T>C (p.Leu1925Ser) c.5372T>C (p.Leu1791Ser) c.4610T>C (p.Leu1537Ser) c.3506T>C (p.Leu1169Ser) | |
21 | g.46411766T>G | CA410556044 | PCNT | n.38T>G c.5726T>G (p.Leu1909Trp) c.*4936T>G (n.*4936T>G) c.5693T>G (p.Leu1898Trp) n.5962T>G c.5339T>G (p.Leu1780Trp) c.5804T>G (p.Leu1935Trp) c.5774T>G (p.Leu1925Trp) c.5372T>G (p.Leu1791Trp) c.4610T>G (p.Leu1537Trp) c.3506T>G (p.Leu1169Trp) | |
21 | g.46411767G>A | CA513174367 | PCNT | n.39G>A c.5727G>A (p.Leu1909=) c.*4937G>A (n.*4937G>A) c.5694G>A (p.Leu1898=) n.5963G>A c.5340G>A (p.Leu1780=) c.5805G>A (p.Leu1935=) c.5775G>A (p.Leu1925=) c.5373G>A (p.Leu1791=) c.4611G>A (p.Leu1537=) c.3507G>A (p.Leu1169=) | gnomAD v4 |
21 | g.46411767G>C | CA410556049 | PCNT | n.39G>C c.5727G>C (p.Leu1909Phe) c.*4937G>C (n.*4937G>C) c.5694G>C (p.Leu1898Phe) n.5963G>C c.5340G>C (p.Leu1780Phe) c.5805G>C (p.Leu1935Phe) c.5775G>C (p.Leu1925Phe) c.5373G>C (p.Leu1791Phe) c.4611G>C (p.Leu1537Phe) c.3507G>C (p.Leu1169Phe) | |
21 | g.46411767G= | CA2392665044 | PCNT | n.39G= c.5727G= (p.Leu1909=) c.*4937G= (n.*4937G=) c.5694G= (p.Leu1898=) n.5963G= c.5340G= (p.Leu1780=) c.5805G= (p.Leu1935=) c.5775G= (p.Leu1925=) c.5373G= (p.Leu1791=) c.4611G= (p.Leu1537=) c.3507G= (p.Leu1169=) | |
21 | g.46411767G>T | CA10080062 | PCNT | n.39G>T c.5727G>T (p.Leu1909Phe) c.*4937G>T (n.*4937G>T) c.5694G>T (p.Leu1898Phe) n.5963G>T c.5340G>T (p.Leu1780Phe) c.5805G>T (p.Leu1935Phe) c.5775G>T (p.Leu1925Phe) c.5373G>T (p.Leu1791Phe) c.4611G>T (p.Leu1537Phe) c.3507G>T (p.Leu1169Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411768G>A | CA410556051 | PCNT | n.40G>A c.5728G>A (p.Ala1910Thr) c.*4938G>A (n.*4938G>A) c.5695G>A (p.Ala1899Thr) n.5964G>A c.5341G>A (p.Ala1781Thr) c.5806G>A (p.Ala1936Thr) c.5776G>A (p.Ala1926Thr) c.5374G>A (p.Ala1792Thr) c.4612G>A (p.Ala1538Thr) c.3508G>A (p.Ala1170Thr) | |
21 | g.46411768G>C | CA410556053 | PCNT | n.40G>C c.5728G>C (p.Ala1910Pro) c.*4938G>C (n.*4938G>C) c.5695G>C (p.Ala1899Pro) n.5964G>C c.5341G>C (p.Ala1781Pro) c.5806G>C (p.Ala1936Pro) c.5776G>C (p.Ala1926Pro) c.5374G>C (p.Ala1792Pro) c.4612G>C (p.Ala1538Pro) c.3508G>C (p.Ala1170Pro) | |
21 | g.46411768G= | CA2392665045 | PCNT | n.40G= c.5728G= (p.Ala1910=) c.*4938G= (n.*4938G=) c.5695G= (p.Ala1899=) n.5964G= c.5341G= (p.Ala1781=) c.5806G= (p.Ala1936=) c.5776G= (p.Ala1926=) c.5374G= (p.Ala1792=) c.4612G= (p.Ala1538=) c.3508G= (p.Ala1170=) | |
21 | g.46411768G>T | CA321998131 | PCNT | n.40G>T c.5728G>T (p.Ala1910Ser) c.*4938G>T (n.*4938G>T) c.5695G>T (p.Ala1899Ser) n.5964G>T c.5341G>T (p.Ala1781Ser) c.5806G>T (p.Ala1936Ser) c.5776G>T (p.Ala1926Ser) c.5374G>T (p.Ala1792Ser) c.4612G>T (p.Ala1538Ser) c.3508G>T (p.Ala1170Ser) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411769C>A | CA410556060 | PCNT | n.41C>A c.5729C>A (p.Ala1910Asp) c.*4939C>A (n.*4939C>A) c.5696C>A (p.Ala1899Asp) n.5965C>A c.5342C>A (p.Ala1781Asp) c.5807C>A (p.Ala1936Asp) c.5777C>A (p.Ala1926Asp) c.5375C>A (p.Ala1792Asp) c.4613C>A (p.Ala1538Asp) c.3509C>A (p.Ala1170Asp) | |
21 | g.46411769C>G | CA410556064 | PCNT | n.41C>G c.5729C>G (p.Ala1910Gly) c.*4939C>G (n.*4939C>G) c.5696C>G (p.Ala1899Gly) n.5965C>G c.5342C>G (p.Ala1781Gly) c.5807C>G (p.Ala1936Gly) c.5777C>G (p.Ala1926Gly) c.5375C>G (p.Ala1792Gly) c.4613C>G (p.Ala1538Gly) c.3509C>G (p.Ala1170Gly) | |
21 | g.46411769C>T | CA410556068 | PCNT | n.41C>T c.5729C>T (p.Ala1910Val) c.*4939C>T (n.*4939C>T) c.5696C>T (p.Ala1899Val) n.5965C>T c.5342C>T (p.Ala1781Val) c.5807C>T (p.Ala1936Val) c.5777C>T (p.Ala1926Val) c.5375C>T (p.Ala1792Val) c.4613C>T (p.Ala1538Val) c.3509C>T (p.Ala1170Val) | |
21 | g.46411770C>A | CA513174369 | PCNT | n.42C>A c.5730C>A (p.Ala1910=) c.*4940C>A (n.*4940C>A) c.5697C>A (p.Ala1899=) n.5966C>A c.5343C>A (p.Ala1781=) c.5808C>A (p.Ala1936=) c.5778C>A (p.Ala1926=) c.5376C>A (p.Ala1792=) c.4614C>A (p.Ala1538=) c.3510C>A (p.Ala1170=) | |
21 | g.46411770C>G | CA513174370 | PCNT | n.42C>G c.5730C>G (p.Ala1910=) c.*4940C>G (n.*4940C>G) c.5697C>G (p.Ala1899=) n.5966C>G c.5343C>G (p.Ala1781=) c.5808C>G (p.Ala1936=) c.5778C>G (p.Ala1926=) c.5376C>G (p.Ala1792=) c.4614C>G (p.Ala1538=) c.3510C>G (p.Ala1170=) | |
21 | g.46411770C>T | CA513174372 | PCNT | n.42C>T c.5730C>T (p.Ala1910=) c.*4940C>T (n.*4940C>T) c.5697C>T (p.Ala1899=) n.5966C>T c.5343C>T (p.Ala1781=) c.5808C>T (p.Ala1936=) c.5778C>T (p.Ala1926=) c.5376C>T (p.Ala1792=) c.4614C>T (p.Ala1538=) c.3510C>T (p.Ala1170=) | |
21 | g.46411771C>A | CA410556069 | PCNT | n.43C>A c.5731C>A (p.Arg1911Ser) c.*4941C>A (n.*4941C>A) c.5698C>A (p.Arg1900Ser) n.5967C>A c.5344C>A (p.Arg1782Ser) c.5809C>A (p.Arg1937Ser) c.5779C>A (p.Arg1927Ser) c.5377C>A (p.Arg1793Ser) c.4615C>A (p.Arg1539Ser) c.3511C>A (p.Arg1171Ser) | |
21 | g.46411771C= | CA2392665046 | PCNT | n.43C= c.5731C= (p.Arg1911=) c.*4941C= (n.*4941C=) c.5698C= (p.Arg1900=) n.5967C= c.5344C= (p.Arg1782=) c.5809C= (p.Arg1937=) c.5779C= (p.Arg1927=) c.5377C= (p.Arg1793=) c.4615C= (p.Arg1539=) c.3511C= (p.Arg1171=) | |
21 | g.46411771C>G | CA10080064 | PCNT | n.43C>G c.5731C>G (p.Arg1911Gly) c.*4941C>G (n.*4941C>G) c.5698C>G (p.Arg1900Gly) n.5967C>G c.5344C>G (p.Arg1782Gly) c.5809C>G (p.Arg1937Gly) c.5779C>G (p.Arg1927Gly) c.5377C>G (p.Arg1793Gly) c.4615C>G (p.Arg1539Gly) c.3511C>G (p.Arg1171Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411771C>T | CA10080063 | PCNT | n.43C>T c.5731C>T (p.Arg1911Cys) c.*4941C>T (n.*4941C>T) c.5698C>T (p.Arg1900Cys) n.5967C>T c.5344C>T (p.Arg1782Cys) c.5809C>T (p.Arg1937Cys) c.5779C>T (p.Arg1927Cys) c.5377C>T (p.Arg1793Cys) c.4615C>T (p.Arg1539Cys) c.3511C>T (p.Arg1171Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411772G>A | CA10080065 | PCNT | n.44G>A c.5732G>A (p.Arg1911His) c.*4942G>A (n.*4942G>A) c.5699G>A (p.Arg1900His) n.5968G>A c.5345G>A (p.Arg1782His) c.5810G>A (p.Arg1937His) c.5780G>A (p.Arg1927His) c.5378G>A (p.Arg1793His) c.4616G>A (p.Arg1539His) c.3512G>A (p.Arg1171His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411772G>C | CA410556073 | PCNT | n.44G>C c.5732G>C (p.Arg1911Pro) c.*4942G>C (n.*4942G>C) c.5699G>C (p.Arg1900Pro) n.5968G>C c.5345G>C (p.Arg1782Pro) c.5810G>C (p.Arg1937Pro) c.5780G>C (p.Arg1927Pro) c.5378G>C (p.Arg1793Pro) c.4616G>C (p.Arg1539Pro) c.3512G>C (p.Arg1171Pro) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411772G= | CA2392665047 | PCNT | n.44G= c.5732G= (p.Arg1911=) c.*4942G= (n.*4942G=) c.5699G= (p.Arg1900=) n.5968G= c.5345G= (p.Arg1782=) c.5810G= (p.Arg1937=) c.5780G= (p.Arg1927=) c.5378G= (p.Arg1793=) c.4616G= (p.Arg1539=) c.3512G= (p.Arg1171=) | |
21 | g.46411772G>T | CA410556071 | PCNT | n.44G>T c.5732G>T (p.Arg1911Leu) c.*4942G>T (n.*4942G>T) c.5699G>T (p.Arg1900Leu) n.5968G>T c.5345G>T (p.Arg1782Leu) c.5810G>T (p.Arg1937Leu) c.5780G>T (p.Arg1927Leu) c.5378G>T (p.Arg1793Leu) c.4616G>T (p.Arg1539Leu) c.3512G>T (p.Arg1171Leu) | gnomAD v4 |
21 | g.46411773C>A | CA513174378 | PCNT | n.45C>A c.5733C>A (p.Arg1911=) c.*4943C>A (n.*4943C>A) c.5700C>A (p.Arg1900=) n.5969C>A c.5346C>A (p.Arg1782=) c.5811C>A (p.Arg1937=) c.5781C>A (p.Arg1927=) c.5379C>A (p.Arg1793=) c.4617C>A (p.Arg1539=) c.3513C>A (p.Arg1171=) | |
21 | g.46411773C>G | CA513174377 | PCNT | n.45C>G c.5733C>G (p.Arg1911=) c.*4943C>G (n.*4943C>G) c.5700C>G (p.Arg1900=) n.5969C>G c.5346C>G (p.Arg1782=) c.5811C>G (p.Arg1937=) c.5781C>G (p.Arg1927=) c.5379C>G (p.Arg1793=) c.4617C>G (p.Arg1539=) c.3513C>G (p.Arg1171=) | |
21 | g.46411773C>T | CA513174376 | PCNT | n.45C>T c.5733C>T (p.Arg1911=) c.*4943C>T (n.*4943C>T) c.5700C>T (p.Arg1900=) n.5969C>T c.5346C>T (p.Arg1782=) c.5811C>T (p.Arg1937=) c.5781C>T (p.Arg1927=) c.5379C>T (p.Arg1793=) c.4617C>T (p.Arg1539=) c.3513C>T (p.Arg1171=) | gnomAD v4 |
21 | g.46411774A= | CA2392665048 | PCNT | n.46A= c.5734A= (p.Ile1912=) c.*4944A= (n.*4944A=) c.5701A= (p.Ile1901=) n.5970A= c.5347A= (p.Ile1783=) c.5812A= (p.Ile1938=) c.5782A= (p.Ile1928=) c.5380A= (p.Ile1794=) c.4618A= (p.Ile1540=) c.3514A= (p.Ile1172=) | |
21 | g.46411774A>C | CA410556079 | PCNT | n.46A>C c.5734A>C (p.Ile1912Leu) c.*4944A>C (n.*4944A>C) c.5701A>C (p.Ile1901Leu) n.5970A>C c.5347A>C (p.Ile1783Leu) c.5812A>C (p.Ile1938Leu) c.5782A>C (p.Ile1928Leu) c.5380A>C (p.Ile1794Leu) c.4618A>C (p.Ile1540Leu) c.3514A>C (p.Ile1172Leu) | |
21 | g.46411774A>G | CA10080066 | PCNT | n.46A>G c.5734A>G (p.Ile1912Val) c.*4944A>G (n.*4944A>G) c.5701A>G (p.Ile1901Val) n.5970A>G c.5347A>G (p.Ile1783Val) c.5812A>G (p.Ile1938Val) c.5782A>G (p.Ile1928Val) c.5380A>G (p.Ile1794Val) c.4618A>G (p.Ile1540Val) c.3514A>G (p.Ile1172Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411774A>T | CA410556091 | PCNT | n.46A>T c.5734A>T (p.Ile1912Phe) c.*4944A>T (n.*4944A>T) c.5701A>T (p.Ile1901Phe) n.5970A>T c.5347A>T (p.Ile1783Phe) c.5812A>T (p.Ile1938Phe) c.5782A>T (p.Ile1928Phe) c.5380A>T (p.Ile1794Phe) c.4618A>T (p.Ile1540Phe) c.3514A>T (p.Ile1172Phe) | |
21 | g.46411775T>A | CA410556093 | PCNT | n.47T>A c.5735T>A (p.Ile1912Asn) c.*4945T>A (n.*4945T>A) c.5702T>A (p.Ile1901Asn) n.5971T>A c.5348T>A (p.Ile1783Asn) c.5813T>A (p.Ile1938Asn) c.5783T>A (p.Ile1928Asn) c.5381T>A (p.Ile1794Asn) c.4619T>A (p.Ile1540Asn) c.3515T>A (p.Ile1172Asn) | |
21 | g.46411775T>C | CA410556096 | PCNT | n.47T>C c.5735T>C (p.Ile1912Thr) c.*4945T>C (n.*4945T>C) c.5702T>C (p.Ile1901Thr) n.5971T>C c.5348T>C (p.Ile1783Thr) c.5813T>C (p.Ile1938Thr) c.5783T>C (p.Ile1928Thr) c.5381T>C (p.Ile1794Thr) c.4619T>C (p.Ile1540Thr) c.3515T>C (p.Ile1172Thr) | |
21 | g.46411775T>G | CA410556099 | PCNT | n.47T>G c.5735T>G (p.Ile1912Ser) c.*4945T>G (n.*4945T>G) c.5702T>G (p.Ile1901Ser) n.5971T>G c.5348T>G (p.Ile1783Ser) c.5813T>G (p.Ile1938Ser) c.5783T>G (p.Ile1928Ser) c.5381T>G (p.Ile1794Ser) c.4619T>G (p.Ile1540Ser) c.3515T>G (p.Ile1172Ser) | |
21 | g.46411776C>A | CA513174383 | PCNT | n.48C>A c.5736C>A (p.Ile1912=) c.*4946C>A (n.*4946C>A) c.5703C>A (p.Ile1901=) n.5972C>A c.5349C>A (p.Ile1783=) c.5814C>A (p.Ile1938=) c.5784C>A (p.Ile1928=) c.5382C>A (p.Ile1794=) c.4620C>A (p.Ile1540=) c.3516C>A (p.Ile1172=) | |
21 | g.46411776C= | CA2392665049 | PCNT | n.48C= c.5736C= (p.Ile1912=) c.*4946C= (n.*4946C=) c.5703C= (p.Ile1901=) n.5972C= c.5349C= (p.Ile1783=) c.5814C= (p.Ile1938=) c.5784C= (p.Ile1928=) c.5382C= (p.Ile1794=) c.4620C= (p.Ile1540=) c.3516C= (p.Ile1172=) | |
21 | g.46411776C>G | CA10080067 | PCNT | n.48C>G c.5736C>G (p.Ile1912Met) c.*4946C>G (n.*4946C>G) c.5703C>G (p.Ile1901Met) n.5972C>G c.5349C>G (p.Ile1783Met) c.5814C>G (p.Ile1938Met) c.5784C>G (p.Ile1928Met) c.5382C>G (p.Ile1794Met) c.4620C>G (p.Ile1540Met) c.3516C>G (p.Ile1172Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411776C>T | CA513174385 | PCNT | n.48C>T c.5736C>T (p.Ile1912=) c.*4946C>T (n.*4946C>T) c.5703C>T (p.Ile1901=) n.5972C>T c.5349C>T (p.Ile1783=) c.5814C>T (p.Ile1938=) c.5784C>T (p.Ile1928=) c.5382C>T (p.Ile1794=) c.4620C>T (p.Ile1540=) c.3516C>T (p.Ile1172=) | gnomAD v4 |
21 | g.46411777C>A | CA410556113 | PCNT | n.49C>A c.5737C>A (p.Arg1913Ser) c.*4947C>A (n.*4947C>A) c.5704C>A (p.Arg1902Ser) n.5973C>A c.5350C>A (p.Arg1784Ser) c.5815C>A (p.Arg1939Ser) c.5785C>A (p.Arg1929Ser) c.5383C>A (p.Arg1795Ser) c.4621C>A (p.Arg1541Ser) c.3517C>A (p.Arg1173Ser) | |
21 | g.46411777C= | CA2392665050 | PCNT | n.49C= c.5737C= (p.Arg1913=) c.*4947C= (n.*4947C=) c.5704C= (p.Arg1902=) n.5973C= c.5350C= (p.Arg1784=) c.5815C= (p.Arg1939=) c.5785C= (p.Arg1929=) c.5383C= (p.Arg1795=) c.4621C= (p.Arg1541=) c.3517C= (p.Arg1173=) | |
21 | g.46411777C>G | CA410556117 | PCNT | n.49C>G c.5737C>G (p.Arg1913Gly) c.*4947C>G (n.*4947C>G) c.5704C>G (p.Arg1902Gly) n.5973C>G c.5350C>G (p.Arg1784Gly) c.5815C>G (p.Arg1939Gly) c.5785C>G (p.Arg1929Gly) c.5383C>G (p.Arg1795Gly) c.4621C>G (p.Arg1541Gly) c.3517C>G (p.Arg1173Gly) | |
21 | g.46411777C>T | CA10080068 | PCNT | n.49C>T c.5737C>T (p.Arg1913Cys) c.*4947C>T (n.*4947C>T) c.5704C>T (p.Arg1902Cys) n.5973C>T c.5350C>T (p.Arg1784Cys) c.5815C>T (p.Arg1939Cys) c.5785C>T (p.Arg1929Cys) c.5383C>T (p.Arg1795Cys) c.4621C>T (p.Arg1541Cys) c.3517C>T (p.Arg1173Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411778G>A | CA206227 | PCNT | n.50G>A c.5738G>A (p.Arg1913His) c.*4948G>A (n.*4948G>A) c.5705G>A (p.Arg1902His) n.5974G>A c.5351G>A (p.Arg1784His) c.5816G>A (p.Arg1939His) c.5786G>A (p.Arg1929His) c.5384G>A (p.Arg1795His) c.4622G>A (p.Arg1541His) c.3518G>A (p.Arg1173His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411778G>C | CA410556127 | PCNT | n.50G>C c.5738G>C (p.Arg1913Pro) c.*4948G>C (n.*4948G>C) c.5705G>C (p.Arg1902Pro) n.5974G>C c.5351G>C (p.Arg1784Pro) c.5816G>C (p.Arg1939Pro) c.5786G>C (p.Arg1929Pro) c.5384G>C (p.Arg1795Pro) c.4622G>C (p.Arg1541Pro) c.3518G>C (p.Arg1173Pro) | |
21 | g.46411778G= | CA2392665051 | PCNT | n.50G= c.5738G= (p.Arg1913=) c.*4948G= (n.*4948G=) c.5705G= (p.Arg1902=) n.5974G= c.5351G= (p.Arg1784=) c.5816G= (p.Arg1939=) c.5786G= (p.Arg1929=) c.5384G= (p.Arg1795=) c.4622G= (p.Arg1541=) c.3518G= (p.Arg1173=) | |
21 | g.46411778G>T | CA410556132 | PCNT | n.50G>T c.5738G>T (p.Arg1913Leu) c.*4948G>T (n.*4948G>T) c.5705G>T (p.Arg1902Leu) n.5974G>T c.5351G>T (p.Arg1784Leu) c.5816G>T (p.Arg1939Leu) c.5786G>T (p.Arg1929Leu) c.5384G>T (p.Arg1795Leu) c.4622G>T (p.Arg1541Leu) c.3518G>T (p.Arg1173Leu) | dbSNP gnomAD v4 |
21 | g.46411779C>A | CA513174389 | PCNT | n.51C>A c.5739C>A (p.Arg1913=) c.*4949C>A (n.*4949C>A) c.5706C>A (p.Arg1902=) n.5975C>A c.5352C>A (p.Arg1784=) c.5817C>A (p.Arg1939=) c.5787C>A (p.Arg1929=) c.5385C>A (p.Arg1795=) c.4623C>A (p.Arg1541=) c.3519C>A (p.Arg1173=) | |
21 | g.46411779C>G | CA513174391 | PCNT | n.51C>G c.5739C>G (p.Arg1913=) c.*4949C>G (n.*4949C>G) c.5706C>G (p.Arg1902=) n.5975C>G c.5352C>G (p.Arg1784=) c.5817C>G (p.Arg1939=) c.5787C>G (p.Arg1929=) c.5385C>G (p.Arg1795=) c.4623C>G (p.Arg1541=) c.3519C>G (p.Arg1173=) | |
21 | g.46411779C>T | CA513174392 | PCNT | n.51C>T c.5739C>T (p.Arg1913=) c.*4949C>T (n.*4949C>T) c.5706C>T (p.Arg1902=) n.5975C>T c.5352C>T (p.Arg1784=) c.5817C>T (p.Arg1939=) c.5787C>T (p.Arg1929=) c.5385C>T (p.Arg1795=) c.4623C>T (p.Arg1541=) c.3519C>T (p.Arg1173=) | gnomAD v4 |
21 | g.46411784_46411785insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC | CA2521015499 | PCNT | n.56_57insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC c.5744_5745insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1915_Leu1916insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.*4954_*4955insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (n.*4954_*4955insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC) c.5711_5712insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1904_Leu1905insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) n.5980_5981insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC c.5357_5358insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1786_Leu1787insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.5822_5823insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1941_Leu1942insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.5792_5793insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1931_Leu1932insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.5390_5391insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1797_Leu1798insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.4628_4629insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1543_Leu1544insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) c.3524_3525insGCCGCATGGCTGGCAGGCGCTGAACGAGCAGGGCGAACTGCTGGCCGAAGCTGATCTGGCCGTCATCGCCGCAGGCTTTGACACCCGCGC (p.Ala1175_Leu1176insProHisGlyTrpGlnAlaLeuAsnGluGlnGlyGluLeuLeuAlaGluAlaAspLeuAlaValIleAlaAlaGlyPheAspThrArgAla) | |
21 | g.46411780C>A | CA410556142 | PCNT | n.52C>A c.5740C>A (p.Arg1914Ser) c.*4950C>A (n.*4950C>A) c.5707C>A (p.Arg1903Ser) n.5976C>A c.5353C>A (p.Arg1785Ser) c.5818C>A (p.Arg1940Ser) c.5788C>A (p.Arg1930Ser) c.5386C>A (p.Arg1796Ser) c.4624C>A (p.Arg1542Ser) c.3520C>A (p.Arg1174Ser) | gnomAD v4 |
21 | g.46411780C= | CA2392665052 | PCNT | n.52C= c.5740C= (p.Arg1914=) c.*4950C= (n.*4950C=) c.5707C= (p.Arg1903=) n.5976C= c.5353C= (p.Arg1785=) c.5818C= (p.Arg1940=) c.5788C= (p.Arg1930=) c.5386C= (p.Arg1796=) c.4624C= (p.Arg1542=) c.3520C= (p.Arg1174=) | |
21 | g.46411780C>G | CA410556145 | PCNT | n.52C>G c.5740C>G (p.Arg1914Gly) c.*4950C>G (n.*4950C>G) c.5707C>G (p.Arg1903Gly) n.5976C>G c.5353C>G (p.Arg1785Gly) c.5818C>G (p.Arg1940Gly) c.5788C>G (p.Arg1930Gly) c.5386C>G (p.Arg1796Gly) c.4624C>G (p.Arg1542Gly) c.3520C>G (p.Arg1174Gly) | dbSNP |
21 | g.46411780C>T | CA10080069 | PCNT | n.52C>T c.5740C>T (p.Arg1914Cys) c.*4950C>T (n.*4950C>T) c.5707C>T (p.Arg1903Cys) n.5976C>T c.5353C>T (p.Arg1785Cys) c.5818C>T (p.Arg1940Cys) c.5788C>T (p.Arg1930Cys) c.5386C>T (p.Arg1796Cys) c.4624C>T (p.Arg1542Cys) c.3520C>T (p.Arg1174Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411780_46411781delinsTT | CA2573054965 | PCNT | n.52_53delinsTT c.5740_5741delinsTT (p.Arg1914Phe) c.*4950_*4951delinsTT (n.*4950_*4951delinsTT) c.5707_5708delinsTT (p.Arg1903Phe) n.5976_5977delinsTT c.5353_5354delinsTT (p.Arg1785Phe) c.5818_5819delinsTT (p.Arg1940Phe) c.5788_5789delinsTT (p.Arg1930Phe) c.5386_5387delinsTT (p.Arg1796Phe) c.4624_4625delinsTT (p.Arg1542Phe) c.3520_3521delinsTT (p.Arg1174Phe) | ClinVar dbSNP |
21 | g.46411781G>A | CA410556149 | PCNT | n.53G>A c.5741G>A (p.Arg1914His) c.*4951G>A (n.*4951G>A) c.5708G>A (p.Arg1903His) n.5977G>A c.5354G>A (p.Arg1785His) c.5819G>A (p.Arg1940His) c.5789G>A (p.Arg1930His) c.5387G>A (p.Arg1796His) c.4625G>A (p.Arg1542His) c.3521G>A (p.Arg1174His) | ClinVar dbSNP gnomAD v4 COSMIC |
21 | g.46411781G>C | CA410556157 | PCNT | n.53G>C c.5741G>C (p.Arg1914Pro) c.*4951G>C (n.*4951G>C) c.5708G>C (p.Arg1903Pro) n.5977G>C c.5354G>C (p.Arg1785Pro) c.5819G>C (p.Arg1940Pro) c.5789G>C (p.Arg1930Pro) c.5387G>C (p.Arg1796Pro) c.4625G>C (p.Arg1542Pro) c.3521G>C (p.Arg1174Pro) | |
21 | g.46411781G= | CA2392665053 | PCNT | n.53G= c.5741G= (p.Arg1914=) c.*4951G= (n.*4951G=) c.5708G= (p.Arg1903=) n.5977G= c.5354G= (p.Arg1785=) c.5819G= (p.Arg1940=) c.5789G= (p.Arg1930=) c.5387G= (p.Arg1796=) c.4625G= (p.Arg1542=) c.3521G= (p.Arg1174=) | |
21 | g.46411781G>T | CA10080070 | PCNT | n.53G>T c.5741G>T (p.Arg1914Leu) c.*4951G>T (n.*4951G>T) c.5708G>T (p.Arg1903Leu) n.5977G>T c.5354G>T (p.Arg1785Leu) c.5819G>T (p.Arg1940Leu) c.5789G>T (p.Arg1930Leu) c.5387G>T (p.Arg1796Leu) c.4625G>T (p.Arg1542Leu) c.3521G>T (p.Arg1174Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411782C>A | CA513174401 | PCNT | n.54C>A c.5742C>A (p.Arg1914=) c.*4952C>A (n.*4952C>A) c.5709C>A (p.Arg1903=) n.5978C>A c.5355C>A (p.Arg1785=) c.5820C>A (p.Arg1940=) c.5790C>A (p.Arg1930=) c.5388C>A (p.Arg1796=) c.4626C>A (p.Arg1542=) c.3522C>A (p.Arg1174=) | |
21 | g.46411782C= | CA2392665054 | PCNT | n.54C= c.5742C= (p.Arg1914=) c.*4952C= (n.*4952C=) c.5709C= (p.Arg1903=) n.5978C= c.5355C= (p.Arg1785=) c.5820C= (p.Arg1940=) c.5790C= (p.Arg1930=) c.5388C= (p.Arg1796=) c.4626C= (p.Arg1542=) c.3522C= (p.Arg1174=) | |
21 | g.46411782C>G | CA513174399 | PCNT | n.54C>G c.5742C>G (p.Arg1914=) c.*4952C>G (n.*4952C>G) c.5709C>G (p.Arg1903=) n.5978C>G c.5355C>G (p.Arg1785=) c.5820C>G (p.Arg1940=) c.5790C>G (p.Arg1930=) c.5388C>G (p.Arg1796=) c.4626C>G (p.Arg1542=) c.3522C>G (p.Arg1174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411782C>T | CA10080071 | PCNT | n.54C>T c.5742C>T (p.Arg1914=) c.*4952C>T (n.*4952C>T) c.5709C>T (p.Arg1903=) n.5978C>T c.5355C>T (p.Arg1785=) c.5820C>T (p.Arg1940=) c.5790C>T (p.Arg1930=) c.5388C>T (p.Arg1796=) c.4626C>T (p.Arg1542=) c.3522C>T (p.Arg1174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411783G>A | CA10080072 | PCNT | n.55G>A c.5743G>A (p.Ala1915Thr) c.*4953G>A (n.*4953G>A) c.5710G>A (p.Ala1904Thr) n.5979G>A c.5356G>A (p.Ala1786Thr) c.5821G>A (p.Ala1941Thr) c.5791G>A (p.Ala1931Thr) c.5389G>A (p.Ala1797Thr) c.4627G>A (p.Ala1543Thr) c.3523G>A (p.Ala1175Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411783G>C | CA410556168 | PCNT | n.55G>C c.5743G>C (p.Ala1915Pro) c.*4953G>C (n.*4953G>C) c.5710G>C (p.Ala1904Pro) n.5979G>C c.5356G>C (p.Ala1786Pro) c.5821G>C (p.Ala1941Pro) c.5791G>C (p.Ala1931Pro) c.5389G>C (p.Ala1797Pro) c.4627G>C (p.Ala1543Pro) c.3523G>C (p.Ala1175Pro) | dbSNP |
21 | g.46411783G= | CA2392665055 | PCNT | n.55G= c.5743G= (p.Ala1915=) c.*4953G= (n.*4953G=) c.5710G= (p.Ala1904=) n.5979G= c.5356G= (p.Ala1786=) c.5821G= (p.Ala1941=) c.5791G= (p.Ala1931=) c.5389G= (p.Ala1797=) c.4627G= (p.Ala1543=) c.3523G= (p.Ala1175=) | |
21 | g.46411783G>T | CA410556174 | PCNT | n.55G>T c.5743G>T (p.Ala1915Ser) c.*4953G>T (n.*4953G>T) c.5710G>T (p.Ala1904Ser) n.5979G>T c.5356G>T (p.Ala1786Ser) c.5821G>T (p.Ala1941Ser) c.5791G>T (p.Ala1931Ser) c.5389G>T (p.Ala1797Ser) c.4627G>T (p.Ala1543Ser) c.3523G>T (p.Ala1175Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411784C>A | CA410556178 | PCNT | n.56C>A c.5744C>A (p.Ala1915Asp) c.*4954C>A (n.*4954C>A) c.5711C>A (p.Ala1904Asp) n.5980C>A c.5357C>A (p.Ala1786Asp) c.5822C>A (p.Ala1941Asp) c.5792C>A (p.Ala1931Asp) c.5390C>A (p.Ala1797Asp) c.4628C>A (p.Ala1543Asp) c.3524C>A (p.Ala1175Asp) | |
21 | g.46411784C>G | CA410556181 | PCNT | n.56C>G c.5744C>G (p.Ala1915Gly) c.*4954C>G (n.*4954C>G) c.5711C>G (p.Ala1904Gly) n.5980C>G c.5357C>G (p.Ala1786Gly) c.5822C>G (p.Ala1941Gly) c.5792C>G (p.Ala1931Gly) c.5390C>G (p.Ala1797Gly) c.4628C>G (p.Ala1543Gly) c.3524C>G (p.Ala1175Gly) | |
21 | g.46411784C>T | CA410556187 | PCNT | n.56C>T c.5744C>T (p.Ala1915Val) c.*4954C>T (n.*4954C>T) c.5711C>T (p.Ala1904Val) n.5980C>T c.5357C>T (p.Ala1786Val) c.5822C>T (p.Ala1941Val) c.5792C>T (p.Ala1931Val) c.5390C>T (p.Ala1797Val) c.4628C>T (p.Ala1543Val) c.3524C>T (p.Ala1175Val) | |
21 | g.46411785C>A | CA513174404 | PCNT | n.57C>A c.5745C>A (p.Ala1915=) c.*4955C>A (n.*4955C>A) c.5712C>A (p.Ala1904=) n.5981C>A c.5358C>A (p.Ala1786=) c.5823C>A (p.Ala1941=) c.5793C>A (p.Ala1931=) c.5391C>A (p.Ala1797=) c.4629C>A (p.Ala1543=) c.3525C>A (p.Ala1175=) | |
21 | g.46411785C= | CA2392665056 | PCNT | n.57C= c.5745C= (p.Ala1915=) c.*4955C= (n.*4955C=) c.5712C= (p.Ala1904=) n.5981C= c.5358C= (p.Ala1786=) c.5823C= (p.Ala1941=) c.5793C= (p.Ala1931=) c.5391C= (p.Ala1797=) c.4629C= (p.Ala1543=) c.3525C= (p.Ala1175=) | |
21 | g.46411785C>G | CA513174405 | PCNT | n.57C>G c.5745C>G (p.Ala1915=) c.*4955C>G (n.*4955C>G) c.5712C>G (p.Ala1904=) n.5981C>G c.5358C>G (p.Ala1786=) c.5823C>G (p.Ala1941=) c.5793C>G (p.Ala1931=) c.5391C>G (p.Ala1797=) c.4629C>G (p.Ala1543=) c.3525C>G (p.Ala1175=) | |
21 | g.46411785C>T | CA10080073 | PCNT | n.57C>T c.5745C>T (p.Ala1915=) c.*4955C>T (n.*4955C>T) c.5712C>T (p.Ala1904=) n.5981C>T c.5358C>T (p.Ala1786=) c.5823C>T (p.Ala1941=) c.5793C>T (p.Ala1931=) c.5391C>T (p.Ala1797=) c.4629C>T (p.Ala1543=) c.3525C>T (p.Ala1175=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411786C>A | CA410556195 | PCNT | n.58C>A c.5746C>A (p.Leu1916Met) c.*4956C>A (n.*4956C>A) c.5713C>A (p.Leu1905Met) n.5982C>A c.5359C>A (p.Leu1787Met) c.5824C>A (p.Leu1942Met) c.5794C>A (p.Leu1932Met) c.5392C>A (p.Leu1798Met) c.4630C>A (p.Leu1544Met) c.3526C>A (p.Leu1176Met) | |
21 | g.46411786C>G | CA410556198 | PCNT | n.58C>G c.5746C>G (p.Leu1916Val) c.*4956C>G (n.*4956C>G) c.5713C>G (p.Leu1905Val) n.5982C>G c.5359C>G (p.Leu1787Val) c.5824C>G (p.Leu1942Val) c.5794C>G (p.Leu1932Val) c.5392C>G (p.Leu1798Val) c.4630C>G (p.Leu1544Val) c.3526C>G (p.Leu1176Val) | |
21 | g.46411786C>T | CA513174406 | PCNT | n.58C>T c.5746C>T (p.Leu1916=) c.*4956C>T (n.*4956C>T) c.5713C>T (p.Leu1905=) n.5982C>T c.5359C>T (p.Leu1787=) c.5824C>T (p.Leu1942=) c.5794C>T (p.Leu1932=) c.5392C>T (p.Leu1798=) c.4630C>T (p.Leu1544=) c.3526C>T (p.Leu1176=) | |
21 | g.46411787T>A | CA410556202 | PCNT | n.59T>A c.5747T>A (p.Leu1916Gln) c.*4957T>A (n.*4957T>A) c.5714T>A (p.Leu1905Gln) n.5983T>A c.5360T>A (p.Leu1787Gln) c.5825T>A (p.Leu1942Gln) c.5795T>A (p.Leu1932Gln) c.5393T>A (p.Leu1798Gln) c.4631T>A (p.Leu1544Gln) c.3527T>A (p.Leu1176Gln) | |
21 | g.46411787T>C | CA410556217 | PCNT | n.59T>C c.5747T>C (p.Leu1916Pro) c.*4957T>C (n.*4957T>C) c.5714T>C (p.Leu1905Pro) n.5983T>C c.5360T>C (p.Leu1787Pro) c.5825T>C (p.Leu1942Pro) c.5795T>C (p.Leu1932Pro) c.5393T>C (p.Leu1798Pro) c.4631T>C (p.Leu1544Pro) c.3527T>C (p.Leu1176Pro) | gnomAD v4 |
21 | g.46411787T>G | CA410556220 | PCNT | n.59T>G c.5747T>G (p.Leu1916Arg) c.*4957T>G (n.*4957T>G) c.5714T>G (p.Leu1905Arg) n.5983T>G c.5360T>G (p.Leu1787Arg) c.5825T>G (p.Leu1942Arg) c.5795T>G (p.Leu1932Arg) c.5393T>G (p.Leu1798Arg) c.4631T>G (p.Leu1544Arg) c.3527T>G (p.Leu1176Arg) | |
21 | g.46411788G>A | CA513174407 | PCNT | n.60G>A c.5748G>A (p.Leu1916=) c.*4958G>A (n.*4958G>A) c.5715G>A (p.Leu1905=) n.5984G>A c.5361G>A (p.Leu1787=) c.5826G>A (p.Leu1942=) c.5796G>A (p.Leu1932=) c.5394G>A (p.Leu1798=) c.4632G>A (p.Leu1544=) c.3528G>A (p.Leu1176=) | |
21 | g.46411788G>C | CA513174408 | PCNT | n.60G>C c.5748G>C (p.Leu1916=) c.*4958G>C (n.*4958G>C) c.5715G>C (p.Leu1905=) n.5984G>C c.5361G>C (p.Leu1787=) c.5826G>C (p.Leu1942=) c.5796G>C (p.Leu1932=) c.5394G>C (p.Leu1798=) c.4632G>C (p.Leu1544=) c.3528G>C (p.Leu1176=) | |
21 | g.46411788G>T | CA513174409 | PCNT | n.60G>T c.5748G>T (p.Leu1916=) c.*4958G>T (n.*4958G>T) c.5715G>T (p.Leu1905=) n.5984G>T c.5361G>T (p.Leu1787=) c.5826G>T (p.Leu1942=) c.5796G>T (p.Leu1932=) c.5394G>T (p.Leu1798=) c.4632G>T (p.Leu1544=) c.3528G>T (p.Leu1176=) | |
21 | g.46411789G>A | CA410556239 | PCNT | n.61G>A c.5749G>A (p.Glu1917Lys) c.*4959G>A (n.*4959G>A) c.5716G>A (p.Glu1906Lys) n.5985G>A c.5362G>A (p.Glu1788Lys) c.5827G>A (p.Glu1943Lys) c.5797G>A (p.Glu1933Lys) c.5395G>A (p.Glu1799Lys) c.4633G>A (p.Glu1545Lys) c.3529G>A (p.Glu1177Lys) | |
21 | g.46411789G>C | CA410556235 | PCNT | n.61G>C c.5749G>C (p.Glu1917Gln) c.*4959G>C (n.*4959G>C) c.5716G>C (p.Glu1906Gln) n.5985G>C c.5362G>C (p.Glu1788Gln) c.5827G>C (p.Glu1943Gln) c.5797G>C (p.Glu1933Gln) c.5395G>C (p.Glu1799Gln) c.4633G>C (p.Glu1545Gln) c.3529G>C (p.Glu1177Gln) | |
21 | g.46411789G>T | CA410556232 | PCNT | n.61G>T c.5749G>T (p.Glu1917Ter) c.*4959G>T (n.*4959G>T) c.5716G>T (p.Glu1906Ter) n.5985G>T c.5362G>T (p.Glu1788Ter) c.5827G>T (p.Glu1943Ter) c.5797G>T (p.Glu1933Ter) c.5395G>T (p.Glu1799Ter) c.4633G>T (p.Glu1545Ter) c.3529G>T (p.Glu1177Ter) | |
21 | g.46411790A>C | CA410556245 | PCNT | n.62A>C c.5750A>C (p.Glu1917Ala) c.*4960A>C (n.*4960A>C) c.5717A>C (p.Glu1906Ala) n.5986A>C c.5363A>C (p.Glu1788Ala) c.5828A>C (p.Glu1943Ala) c.5798A>C (p.Glu1933Ala) c.5396A>C (p.Glu1799Ala) c.4634A>C (p.Glu1545Ala) c.3530A>C (p.Glu1177Ala) | |
21 | g.46411790A>G | CA410556250 | PCNT | n.62A>G c.5750A>G (p.Glu1917Gly) c.*4960A>G (n.*4960A>G) c.5717A>G (p.Glu1906Gly) n.5986A>G c.5363A>G (p.Glu1788Gly) c.5828A>G (p.Glu1943Gly) c.5798A>G (p.Glu1933Gly) c.5396A>G (p.Glu1799Gly) c.4634A>G (p.Glu1545Gly) c.3530A>G (p.Glu1177Gly) | gnomAD v4 |
21 | g.46411790A>T | CA410556252 | PCNT | n.62A>T c.5750A>T (p.Glu1917Val) c.*4960A>T (n.*4960A>T) c.5717A>T (p.Glu1906Val) n.5986A>T c.5363A>T (p.Glu1788Val) c.5828A>T (p.Glu1943Val) c.5798A>T (p.Glu1933Val) c.5396A>T (p.Glu1799Val) c.4634A>T (p.Glu1545Val) c.3530A>T (p.Glu1177Val) | |
21 | g.46411791G>A | CA513174414 | PCNT | n.63G>A c.5751G>A (p.Glu1917=) c.*4961G>A (n.*4961G>A) c.5718G>A (p.Glu1906=) n.5987G>A c.5364G>A (p.Glu1788=) c.5829G>A (p.Glu1943=) c.5799G>A (p.Glu1933=) c.5397G>A (p.Glu1799=) c.4635G>A (p.Glu1545=) c.3531G>A (p.Glu1177=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411791G>C | CA410556256 | PCNT | n.63G>C c.5751G>C (p.Glu1917Asp) c.*4961G>C (n.*4961G>C) c.5718G>C (p.Glu1906Asp) n.5987G>C c.5364G>C (p.Glu1788Asp) c.5829G>C (p.Glu1943Asp) c.5799G>C (p.Glu1933Asp) c.5397G>C (p.Glu1799Asp) c.4635G>C (p.Glu1545Asp) c.3531G>C (p.Glu1177Asp) | |
21 | g.46411791G= | CA2392665057 | PCNT | n.63G= c.5751G= (p.Glu1917=) c.*4961G= (n.*4961G=) c.5718G= (p.Glu1906=) n.5987G= c.5364G= (p.Glu1788=) c.5829G= (p.Glu1943=) c.5799G= (p.Glu1933=) c.5397G= (p.Glu1799=) c.4635G= (p.Glu1545=) c.3531G= (p.Glu1177=) | |
21 | g.46411791G>T | CA410556260 | PCNT | n.63G>T c.5751G>T (p.Glu1917Asp) c.*4961G>T (n.*4961G>T) c.5718G>T (p.Glu1906Asp) n.5987G>T c.5364G>T (p.Glu1788Asp) c.5829G>T (p.Glu1943Asp) c.5799G>T (p.Glu1933Asp) c.5397G>T (p.Glu1799Asp) c.4635G>T (p.Glu1545Asp) c.3531G>T (p.Glu1177Asp) | gnomAD v4 |
21 | g.46411792C>A | CA410556266 | PCNT | n.64C>A c.5752C>A (p.Gln1918Lys) c.*4962C>A (n.*4962C>A) c.5719C>A (p.Gln1907Lys) n.5988C>A c.5365C>A (p.Gln1789Lys) c.5830C>A (p.Gln1944Lys) c.5800C>A (p.Gln1934Lys) c.5398C>A (p.Gln1800Lys) c.4636C>A (p.Gln1546Lys) c.3532C>A (p.Gln1178Lys) | |
21 | g.46411792C= | CA2392665058 | PCNT | n.64C= c.5752C= (p.Gln1918=) c.*4962C= (n.*4962C=) c.5719C= (p.Gln1907=) n.5988C= c.5365C= (p.Gln1789=) c.5830C= (p.Gln1944=) c.5800C= (p.Gln1934=) c.5398C= (p.Gln1800=) c.4636C= (p.Gln1546=) c.3532C= (p.Gln1178=) | |
21 | g.46411792C>G | CA410556270 | PCNT | n.64C>G c.5752C>G (p.Gln1918Glu) c.*4962C>G (n.*4962C>G) c.5719C>G (p.Gln1907Glu) n.5988C>G c.5365C>G (p.Gln1789Glu) c.5830C>G (p.Gln1944Glu) c.5800C>G (p.Gln1934Glu) c.5398C>G (p.Gln1800Glu) c.4636C>G (p.Gln1546Glu) c.3532C>G (p.Gln1178Glu) | |
21 | g.46411792C>T | CA410556276 | PCNT | n.64C>T c.5752C>T (p.Gln1918Ter) c.*4962C>T (n.*4962C>T) c.5719C>T (p.Gln1907Ter) n.5988C>T c.5365C>T (p.Gln1789Ter) c.5830C>T (p.Gln1944Ter) c.5800C>T (p.Gln1934Ter) c.5398C>T (p.Gln1800Ter) c.4636C>T (p.Gln1546Ter) c.3532C>T (p.Gln1178Ter) | ClinVar dbSNP |
21 | g.46411793A= | CA2392665060 | PCNT | n.65A= c.5753A= (p.Gln1918=) c.*4963A= (n.*4963A=) c.5720A= (p.Gln1907=) n.5989A= c.5366A= (p.Gln1789=) c.5831A= (p.Gln1944=) c.5801A= (p.Gln1934=) c.5399A= (p.Gln1800=) c.4637A= (p.Gln1546=) c.3533A= (p.Gln1178=) | |
21 | g.46411793A>C | CA410556280 | PCNT | n.65A>C c.5753A>C (p.Gln1918Pro) c.*4963A>C (n.*4963A>C) c.5720A>C (p.Gln1907Pro) n.5989A>C c.5366A>C (p.Gln1789Pro) c.5831A>C (p.Gln1944Pro) c.5801A>C (p.Gln1934Pro) c.5399A>C (p.Gln1800Pro) c.4637A>C (p.Gln1546Pro) c.3533A>C (p.Gln1178Pro) | |
21 | g.46411793A>G | CA410556285 | PCNT | n.65A>G c.5753A>G (p.Gln1918Arg) c.*4963A>G (n.*4963A>G) c.5720A>G (p.Gln1907Arg) n.5989A>G c.5366A>G (p.Gln1789Arg) c.5831A>G (p.Gln1944Arg) c.5801A>G (p.Gln1934Arg) c.5399A>G (p.Gln1800Arg) c.4637A>G (p.Gln1546Arg) c.3533A>G (p.Gln1178Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411793A>T | CA410556290 | PCNT | n.65A>T c.5753A>T (p.Gln1918Leu) c.*4963A>T (n.*4963A>T) c.5720A>T (p.Gln1907Leu) n.5989A>T c.5366A>T (p.Gln1789Leu) c.5831A>T (p.Gln1944Leu) c.5801A>T (p.Gln1934Leu) c.5399A>T (p.Gln1800Leu) c.4637A>T (p.Gln1546Leu) c.3533A>T (p.Gln1178Leu) | |
21 | g.46411793_46411803delinsAGCAGCCCCTG | CA2392665059 | PCNT | n.65_75delinsAGCAGCCCCTG c.5753_5763delinsAGCAGCCCCTG (p.Gln1918=) c.*4963_*4973delinsAGCAGCCCCTG (n.*4963_*4973delinsAGCAGCCCCTG) c.5720_5730delinsAGCAGCCCCTG (p.Gln1907=) n.5989_5999delinsAGCAGCCCCTG c.5366_5376delinsAGCAGCCCCTG (p.Gln1789=) c.5831_5841delinsAGCAGCCCCTG (p.Gln1944=) c.5801_5811delinsAGCAGCCCCTG (p.Gln1934=) c.5399_5409delinsAGCAGCCCCTG (p.Gln1800=) c.4637_4647delinsAGCAGCCCCTG (p.Gln1546=) c.3533_3543delinsAGCAGCCCCTG (p.Gln1178=) | |
21 | g.46411794G>A | CA513174424 | PCNT | n.66G>A c.5754G>A (p.Gln1918=) c.*4964G>A (n.*4964G>A) c.5721G>A (p.Gln1907=) n.5990G>A c.5367G>A (p.Gln1789=) c.5832G>A (p.Gln1944=) c.5802G>A (p.Gln1934=) c.5400G>A (p.Gln1800=) c.4638G>A (p.Gln1546=) c.3534G>A (p.Gln1178=) | dbSNP gnomAD v2 |
21 | g.46411794G>C | CA410556314 | PCNT | n.66G>C c.5754G>C (p.Gln1918His) c.*4964G>C (n.*4964G>C) c.5721G>C (p.Gln1907His) n.5990G>C c.5367G>C (p.Gln1789His) c.5832G>C (p.Gln1944His) c.5802G>C (p.Gln1934His) c.5400G>C (p.Gln1800His) c.4638G>C (p.Gln1546His) c.3534G>C (p.Gln1178His) | |
21 | g.46411794G= | CA2392665061 | PCNT | n.66G= c.5754G= (p.Gln1918=) c.*4964G= (n.*4964G=) c.5721G= (p.Gln1907=) n.5990G= c.5367G= (p.Gln1789=) c.5832G= (p.Gln1944=) c.5802G= (p.Gln1934=) c.5400G= (p.Gln1800=) c.4638G= (p.Gln1546=) c.3534G= (p.Gln1178=) | |
21 | g.46411794G>T | CA410556310 | PCNT | n.66G>T c.5754G>T (p.Gln1918His) c.*4964G>T (n.*4964G>T) c.5721G>T (p.Gln1907His) n.5990G>T c.5367G>T (p.Gln1789His) c.5832G>T (p.Gln1944His) c.5802G>T (p.Gln1934His) c.5400G>T (p.Gln1800His) c.4638G>T (p.Gln1546His) c.3534G>T (p.Gln1178His) | |
21 | g.46411800_46411809del | CA251089 | PCNT | n.72_81del c.5760_5769del (p.Leu1921GlyfsTer29) c.*4970_*4979del (n.*4970_*4979del) c.5727_5736del (p.Leu1910GlyfsTer29) n.5996_6005del c.5373_5382del (p.Leu1792GlyfsTer29) c.5838_5847del (p.Leu1947GlyfsTer29) c.5808_5817del (p.Leu1937GlyfsTer29) c.5406_5415del (p.Leu1803GlyfsTer29) c.4644_4653del (p.Leu1549GlyfsTer29) c.3540_3549del (p.Leu1181GlyfsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411795C>A | CA410556318 | PCNT | n.67C>A c.5755C>A (p.Gln1919Lys) c.*4965C>A (n.*4965C>A) c.5722C>A (p.Gln1908Lys) n.5991C>A c.5368C>A (p.Gln1790Lys) c.5833C>A (p.Gln1945Lys) c.5803C>A (p.Gln1935Lys) c.5401C>A (p.Gln1801Lys) c.4639C>A (p.Gln1547Lys) c.3535C>A (p.Gln1179Lys) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411795C= | CA2392665062 | PCNT | n.67C= c.5755C= (p.Gln1919=) c.*4965C= (n.*4965C=) c.5722C= (p.Gln1908=) n.5991C= c.5368C= (p.Gln1790=) c.5833C= (p.Gln1945=) c.5803C= (p.Gln1935=) c.5401C= (p.Gln1801=) c.4639C= (p.Gln1547=) c.3535C= (p.Gln1179=) | |
21 | g.46411795C>G | CA410556324 | PCNT | n.67C>G c.5755C>G (p.Gln1919Glu) c.*4965C>G (n.*4965C>G) c.5722C>G (p.Gln1908Glu) n.5991C>G c.5368C>G (p.Gln1790Glu) c.5833C>G (p.Gln1945Glu) c.5803C>G (p.Gln1935Glu) c.5401C>G (p.Gln1801Glu) c.4639C>G (p.Gln1547Glu) c.3535C>G (p.Gln1179Glu) | |
21 | g.46411795C>T | CA410556327 | PCNT | n.67C>T c.5755C>T (p.Gln1919Ter) c.*4965C>T (n.*4965C>T) c.5722C>T (p.Gln1908Ter) n.5991C>T c.5368C>T (p.Gln1790Ter) c.5833C>T (p.Gln1945Ter) c.5803C>T (p.Gln1935Ter) c.5401C>T (p.Gln1801Ter) c.4639C>T (p.Gln1547Ter) c.3535C>T (p.Gln1179Ter) | gnomAD v4 |
21 | g.46411796A= | CA2392665063 | PCNT | n.68A= c.5756A= (p.Gln1919=) c.*4966A= (n.*4966A=) c.5723A= (p.Gln1908=) n.5992A= c.5369A= (p.Gln1790=) c.5834A= (p.Gln1945=) c.5804A= (p.Gln1935=) c.5402A= (p.Gln1801=) c.4640A= (p.Gln1547=) c.3536A= (p.Gln1179=) | |
21 | g.46411796A>C | CA410556332 | PCNT | n.68A>C c.5756A>C (p.Gln1919Pro) c.*4966A>C (n.*4966A>C) c.5723A>C (p.Gln1908Pro) n.5992A>C c.5369A>C (p.Gln1790Pro) c.5834A>C (p.Gln1945Pro) c.5804A>C (p.Gln1935Pro) c.5402A>C (p.Gln1801Pro) c.4640A>C (p.Gln1547Pro) c.3536A>C (p.Gln1179Pro) | |
21 | g.46411796A>G | CA321998148 | PCNT | n.68A>G c.5756A>G (p.Gln1919Arg) c.*4966A>G (n.*4966A>G) c.5723A>G (p.Gln1908Arg) n.5992A>G c.5369A>G (p.Gln1790Arg) c.5834A>G (p.Gln1945Arg) c.5804A>G (p.Gln1935Arg) c.5402A>G (p.Gln1801Arg) c.4640A>G (p.Gln1547Arg) c.3536A>G (p.Gln1179Arg) | dbSNP gnomAD v4 |
21 | g.46411796A>T | CA410556341 | PCNT | n.68A>T c.5756A>T (p.Gln1919Leu) c.*4966A>T (n.*4966A>T) c.5723A>T (p.Gln1908Leu) n.5992A>T c.5369A>T (p.Gln1790Leu) c.5834A>T (p.Gln1945Leu) c.5804A>T (p.Gln1935Leu) c.5402A>T (p.Gln1801Leu) c.4640A>T (p.Gln1547Leu) c.3536A>T (p.Gln1179Leu) | |
21 | g.46411797G>A | CA10080074 | PCNT | n.69G>A c.5757G>A (p.Gln1919=) c.*4967G>A (n.*4967G>A) c.5724G>A (p.Gln1908=) n.5993G>A c.5370G>A (p.Gln1790=) c.5835G>A (p.Gln1945=) c.5805G>A (p.Gln1935=) c.5403G>A (p.Gln1801=) c.4641G>A (p.Gln1547=) c.3537G>A (p.Gln1179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411797G>C | CA410556350 | PCNT | n.69G>C c.5757G>C (p.Gln1919His) c.*4967G>C (n.*4967G>C) c.5724G>C (p.Gln1908His) n.5993G>C c.5370G>C (p.Gln1790His) c.5835G>C (p.Gln1945His) c.5805G>C (p.Gln1935His) c.5403G>C (p.Gln1801His) c.4641G>C (p.Gln1547His) c.3537G>C (p.Gln1179His) | |
21 | g.46411797G= | CA2392665064 | PCNT | n.69G= c.5757G= (p.Gln1919=) c.*4967G= (n.*4967G=) c.5724G= (p.Gln1908=) n.5993G= c.5370G= (p.Gln1790=) c.5835G= (p.Gln1945=) c.5805G= (p.Gln1935=) c.5403G= (p.Gln1801=) c.4641G= (p.Gln1547=) c.3537G= (p.Gln1179=) | |
21 | g.46411797G>T | CA410556354 | PCNT | n.69G>T c.5757G>T (p.Gln1919His) c.*4967G>T (n.*4967G>T) c.5724G>T (p.Gln1908His) n.5993G>T c.5370G>T (p.Gln1790His) c.5835G>T (p.Gln1945His) c.5805G>T (p.Gln1935His) c.5403G>T (p.Gln1801His) c.4641G>T (p.Gln1547His) c.3537G>T (p.Gln1179His) | |
21 | g.46411798C>A | CA410556361 | PCNT | n.70C>A c.5758C>A (p.Pro1920Thr) c.*4968C>A (n.*4968C>A) c.5725C>A (p.Pro1909Thr) n.5994C>A c.5371C>A (p.Pro1791Thr) c.5836C>A (p.Pro1946Thr) c.5806C>A (p.Pro1936Thr) c.5404C>A (p.Pro1802Thr) c.4642C>A (p.Pro1548Thr) c.3538C>A (p.Pro1180Thr) | gnomAD v4 |
21 | g.46411798C= | CA2392665065 | PCNT | n.70C= c.5758C= (p.Pro1920=) c.*4968C= (n.*4968C=) c.5725C= (p.Pro1909=) n.5994C= c.5371C= (p.Pro1791=) c.5836C= (p.Pro1946=) c.5806C= (p.Pro1936=) c.5404C= (p.Pro1802=) c.4642C= (p.Pro1548=) c.3538C= (p.Pro1180=) | |
21 | g.46411798C>G | CA410556368 | PCNT | n.70C>G c.5758C>G (p.Pro1920Ala) c.*4968C>G (n.*4968C>G) c.5725C>G (p.Pro1909Ala) n.5994C>G c.5371C>G (p.Pro1791Ala) c.5836C>G (p.Pro1946Ala) c.5806C>G (p.Pro1936Ala) c.5404C>G (p.Pro1802Ala) c.4642C>G (p.Pro1548Ala) c.3538C>G (p.Pro1180Ala) | |
21 | g.46411798C>T | CA410556370 | PCNT | n.70C>T c.5758C>T (p.Pro1920Ser) c.*4968C>T (n.*4968C>T) c.5725C>T (p.Pro1909Ser) n.5994C>T c.5371C>T (p.Pro1791Ser) c.5836C>T (p.Pro1946Ser) c.5806C>T (p.Pro1936Ser) c.5404C>T (p.Pro1802Ser) c.4642C>T (p.Pro1548Ser) c.3538C>T (p.Pro1180Ser) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411801del | CA2655023957 | PCNT | n.73del c.5761del (p.Leu1921TrpfsTer?) c.*4971del (n.*4971del) c.5728del (p.Leu1910TrpfsTer?) n.5997del c.5374del (p.Leu1792TrpfsTer?) c.5839del (p.Leu1947TrpfsTer?) c.5809del (p.Leu1937TrpfsTer?) c.5407del (p.Leu1803TrpfsTer?) c.4645del (p.Leu1549TrpfsTer?) c.3541del (p.Leu1181TrpfsTer?) | gnomAD v4 |
21 | g.46411799C>A | CA410556372 | PCNT | n.71C>A c.5759C>A (p.Pro1920His) c.*4969C>A (n.*4969C>A) c.5726C>A (p.Pro1909His) n.5995C>A c.5372C>A (p.Pro1791His) c.5837C>A (p.Pro1946His) c.5807C>A (p.Pro1936His) c.5405C>A (p.Pro1802His) c.4643C>A (p.Pro1548His) c.3539C>A (p.Pro1180His) | gnomAD v4 |
21 | g.46411799C= | CA2392665066 | PCNT | n.71C= c.5759C= (p.Pro1920=) c.*4969C= (n.*4969C=) c.5726C= (p.Pro1909=) n.5995C= c.5372C= (p.Pro1791=) c.5837C= (p.Pro1946=) c.5807C= (p.Pro1936=) c.5405C= (p.Pro1802=) c.4643C= (p.Pro1548=) c.3539C= (p.Pro1180=) | |
21 | g.46411799C>G | CA410556376 | PCNT | n.71C>G c.5759C>G (p.Pro1920Arg) c.*4969C>G (n.*4969C>G) c.5726C>G (p.Pro1909Arg) n.5995C>G c.5372C>G (p.Pro1791Arg) c.5837C>G (p.Pro1946Arg) c.5807C>G (p.Pro1936Arg) c.5405C>G (p.Pro1802Arg) c.4643C>G (p.Pro1548Arg) c.3539C>G (p.Pro1180Arg) | |
21 | g.46411799C>T | CA10080075 | PCNT | n.71C>T c.5759C>T (p.Pro1920Leu) c.*4969C>T (n.*4969C>T) c.5726C>T (p.Pro1909Leu) n.5995C>T c.5372C>T (p.Pro1791Leu) c.5837C>T (p.Pro1946Leu) c.5807C>T (p.Pro1936Leu) c.5405C>T (p.Pro1802Leu) c.4643C>T (p.Pro1548Leu) c.3539C>T (p.Pro1180Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411800C>A | CA513174430 | PCNT | n.72C>A c.5760C>A (p.Pro1920=) c.*4970C>A (n.*4970C>A) c.5727C>A (p.Pro1909=) n.5996C>A c.5373C>A (p.Pro1791=) c.5838C>A (p.Pro1946=) c.5808C>A (p.Pro1936=) c.5406C>A (p.Pro1802=) c.4644C>A (p.Pro1548=) c.3540C>A (p.Pro1180=) | gnomAD v4 |
21 | g.46411800C>G | CA513174431 | PCNT | n.72C>G c.5760C>G (p.Pro1920=) c.*4970C>G (n.*4970C>G) c.5727C>G (p.Pro1909=) n.5996C>G c.5373C>G (p.Pro1791=) c.5838C>G (p.Pro1946=) c.5808C>G (p.Pro1936=) c.5406C>G (p.Pro1802=) c.4644C>G (p.Pro1548=) c.3540C>G (p.Pro1180=) | |
21 | g.46411800C>T | CA513174432 | PCNT | n.72C>T c.5760C>T (p.Pro1920=) c.*4970C>T (n.*4970C>T) c.5727C>T (p.Pro1909=) n.5996C>T c.5373C>T (p.Pro1791=) c.5838C>T (p.Pro1946=) c.5808C>T (p.Pro1936=) c.5406C>T (p.Pro1802=) c.4644C>T (p.Pro1548=) c.3540C>T (p.Pro1180=) | gnomAD v4 |
21 | g.46411801C>A | CA410556383 | PCNT | n.73C>A c.5761C>A (p.Leu1921Met) c.*4971C>A (n.*4971C>A) c.5728C>A (p.Leu1910Met) n.5997C>A c.5374C>A (p.Leu1792Met) c.5839C>A (p.Leu1947Met) c.5809C>A (p.Leu1937Met) c.5407C>A (p.Leu1803Met) c.4645C>A (p.Leu1549Met) c.3541C>A (p.Leu1181Met) | |
21 | g.46411801C>G | CA410556382 | PCNT | n.73C>G c.5761C>G (p.Leu1921Val) c.*4971C>G (n.*4971C>G) c.5728C>G (p.Leu1910Val) n.5997C>G c.5374C>G (p.Leu1792Val) c.5839C>G (p.Leu1947Val) c.5809C>G (p.Leu1937Val) c.5407C>G (p.Leu1803Val) c.4645C>G (p.Leu1549Val) c.3541C>G (p.Leu1181Val) | |
21 | g.46411801C>T | CA513174433 | PCNT | n.73C>T c.5761C>T (p.Leu1921=) c.*4971C>T (n.*4971C>T) c.5728C>T (p.Leu1910=) n.5997C>T c.5374C>T (p.Leu1792=) c.5839C>T (p.Leu1947=) c.5809C>T (p.Leu1937=) c.5407C>T (p.Leu1803=) c.4645C>T (p.Leu1549=) c.3541C>T (p.Leu1181=) | gnomAD v4 COSMIC |
21 | g.46411802T>A | CA410556386 | PCNT | n.74T>A c.5762T>A (p.Leu1921Gln) c.*4972T>A (n.*4972T>A) c.5729T>A (p.Leu1910Gln) n.5998T>A c.5375T>A (p.Leu1792Gln) c.5840T>A (p.Leu1947Gln) c.5810T>A (p.Leu1937Gln) c.5408T>A (p.Leu1803Gln) c.4646T>A (p.Leu1549Gln) c.3542T>A (p.Leu1181Gln) | |
21 | g.46411802T>C | CA410556399 | PCNT | n.74T>C c.5762T>C (p.Leu1921Pro) c.*4972T>C (n.*4972T>C) c.5729T>C (p.Leu1910Pro) n.5998T>C c.5375T>C (p.Leu1792Pro) c.5840T>C (p.Leu1947Pro) c.5810T>C (p.Leu1937Pro) c.5408T>C (p.Leu1803Pro) c.4646T>C (p.Leu1549Pro) c.3542T>C (p.Leu1181Pro) | gnomAD v4 |
21 | g.46411802T>G | CA410556405 | PCNT | n.74T>G c.5762T>G (p.Leu1921Arg) c.*4972T>G (n.*4972T>G) c.5729T>G (p.Leu1910Arg) n.5998T>G c.5375T>G (p.Leu1792Arg) c.5840T>G (p.Leu1947Arg) c.5810T>G (p.Leu1937Arg) c.5408T>G (p.Leu1803Arg) c.4646T>G (p.Leu1549Arg) c.3542T>G (p.Leu1181Arg) | gnomAD v4 |
21 | g.46411803G>A | CA513173964 | PCNT | n.75G>A c.5763G>A (p.Leu1921=) c.*4973G>A (n.*4973G>A) c.5730G>A (p.Leu1910=) n.5999G>A c.5376G>A (p.Leu1792=) c.5841G>A (p.Leu1947=) c.5811G>A (p.Leu1937=) c.5409G>A (p.Leu1803=) c.4647G>A (p.Leu1549=) c.3543G>A (p.Leu1181=) | |
21 | g.46411803G>C | CA513173963 | PCNT | n.75G>C c.5763G>C (p.Leu1921=) c.*4973G>C (n.*4973G>C) c.5730G>C (p.Leu1910=) n.5999G>C c.5376G>C (p.Leu1792=) c.5841G>C (p.Leu1947=) c.5811G>C (p.Leu1937=) c.5409G>C (p.Leu1803=) c.4647G>C (p.Leu1549=) c.3543G>C (p.Leu1181=) | |
21 | g.46411803G>T | CA513173962 | PCNT | n.75G>T c.5763G>T (p.Leu1921=) c.*4973G>T (n.*4973G>T) c.5730G>T (p.Leu1910=) n.5999G>T c.5376G>T (p.Leu1792=) c.5841G>T (p.Leu1947=) c.5811G>T (p.Leu1937=) c.5409G>T (p.Leu1803=) c.4647G>T (p.Leu1549=) c.3543G>T (p.Leu1181=) | gnomAD v4 |
21 | g.46411804G>A | CA410556409 | PCNT | n.76G>A c.5764G>A (p.Ala1922Thr) c.*4974G>A (n.*4974G>A) c.5731G>A (p.Ala1911Thr) n.6000G>A c.5377G>A (p.Ala1793Thr) c.5842G>A (p.Ala1948Thr) c.5812G>A (p.Ala1938Thr) c.5410G>A (p.Ala1804Thr) c.4648G>A (p.Ala1550Thr) c.3544G>A (p.Ala1182Thr) | |
21 | g.46411804G>C | CA410556414 | PCNT | n.76G>C c.5764G>C (p.Ala1922Pro) c.*4974G>C (n.*4974G>C) c.5731G>C (p.Ala1911Pro) n.6000G>C c.5377G>C (p.Ala1793Pro) c.5842G>C (p.Ala1948Pro) c.5812G>C (p.Ala1938Pro) c.5410G>C (p.Ala1804Pro) c.4648G>C (p.Ala1550Pro) c.3544G>C (p.Ala1182Pro) | |
21 | g.46411804G= | CA2392665067 | PCNT | n.76G= c.5764G= (p.Ala1922=) c.*4974G= (n.*4974G=) c.5731G= (p.Ala1911=) n.6000G= c.5377G= (p.Ala1793=) c.5842G= (p.Ala1948=) c.5812G= (p.Ala1938=) c.5410G= (p.Ala1804=) c.4648G= (p.Ala1550=) c.3544G= (p.Ala1182=) | |
21 | g.46411804G>T | CA410556416 | PCNT | n.76G>T c.5764G>T (p.Ala1922Ser) c.*4974G>T (n.*4974G>T) c.5731G>T (p.Ala1911Ser) n.6000G>T c.5377G>T (p.Ala1793Ser) c.5842G>T (p.Ala1948Ser) c.5812G>T (p.Ala1938Ser) c.5410G>T (p.Ala1804Ser) c.4648G>T (p.Ala1550Ser) c.3544G>T (p.Ala1182Ser) | dbSNP |
21 | g.46411805C>A | CA410556421 | PCNT | n.77C>A c.5765C>A (p.Ala1922Glu) c.*4975C>A (n.*4975C>A) c.5732C>A (p.Ala1911Glu) n.6001C>A c.5378C>A (p.Ala1793Glu) c.5843C>A (p.Ala1948Glu) c.5813C>A (p.Ala1938Glu) c.5411C>A (p.Ala1804Glu) c.4649C>A (p.Ala1550Glu) c.3545C>A (p.Ala1182Glu) | gnomAD v4 |
21 | g.46411805C= | CA2392665068 | PCNT | n.77C= c.5765C= (p.Ala1922=) c.*4975C= (n.*4975C=) c.5732C= (p.Ala1911=) n.6001C= c.5378C= (p.Ala1793=) c.5843C= (p.Ala1948=) c.5813C= (p.Ala1938=) c.5411C= (p.Ala1804=) c.4649C= (p.Ala1550=) c.3545C= (p.Ala1182=) | |
21 | g.46411805C>G | CA410556424 | PCNT | n.77C>G c.5765C>G (p.Ala1922Gly) c.*4975C>G (n.*4975C>G) c.5732C>G (p.Ala1911Gly) n.6001C>G c.5378C>G (p.Ala1793Gly) c.5843C>G (p.Ala1948Gly) c.5813C>G (p.Ala1938Gly) c.5411C>G (p.Ala1804Gly) c.4649C>G (p.Ala1550Gly) c.3545C>G (p.Ala1182Gly) | |
21 | g.46411805C>T | CA410556428 | PCNT | n.77C>T c.5765C>T (p.Ala1922Val) c.*4975C>T (n.*4975C>T) c.5732C>T (p.Ala1911Val) n.6001C>T c.5378C>T (p.Ala1793Val) c.5843C>T (p.Ala1948Val) c.5813C>T (p.Ala1938Val) c.5411C>T (p.Ala1804Val) c.4649C>T (p.Ala1550Val) c.3545C>T (p.Ala1182Val) | dbSNP |
21 | g.46411806A>C | CA513173969 | PCNT | n.78A>C c.5766A>C (p.Ala1922=) c.*4976A>C (n.*4976A>C) c.5733A>C (p.Ala1911=) n.6002A>C c.5379A>C (p.Ala1793=) c.5844A>C (p.Ala1948=) c.5814A>C (p.Ala1938=) c.5412A>C (p.Ala1804=) c.4650A>C (p.Ala1550=) c.3546A>C (p.Ala1182=) | |
21 | g.46411806A>G | CA513173970 | PCNT | n.78A>G c.5766A>G (p.Ala1922=) c.*4976A>G (n.*4976A>G) c.5733A>G (p.Ala1911=) n.6002A>G c.5379A>G (p.Ala1793=) c.5844A>G (p.Ala1948=) c.5814A>G (p.Ala1938=) c.5412A>G (p.Ala1804=) c.4650A>G (p.Ala1550=) c.3546A>G (p.Ala1182=) | |
21 | g.46411806A>T | CA513173971 | PCNT | n.78A>T c.5766A>T (p.Ala1922=) c.*4976A>T (n.*4976A>T) c.5733A>T (p.Ala1911=) n.6002A>T c.5379A>T (p.Ala1793=) c.5844A>T (p.Ala1948=) c.5814A>T (p.Ala1938=) c.5412A>T (p.Ala1804=) c.4650A>T (p.Ala1550=) c.3546A>T (p.Ala1182=) | |
21 | g.46411807G>A | CA410556431 | PCNT | n.79G>A c.5767G>A (p.Ala1923Thr) c.*4977G>A (n.*4977G>A) c.5734G>A (p.Ala1912Thr) n.6003G>A c.5380G>A (p.Ala1794Thr) c.5845G>A (p.Ala1949Thr) c.5815G>A (p.Ala1939Thr) c.5413G>A (p.Ala1805Thr) c.4651G>A (p.Ala1551Thr) c.3547G>A (p.Ala1183Thr) | |
21 | g.46411807G>C | CA410556432 | PCNT | n.79G>C c.5767G>C (p.Ala1923Pro) c.*4977G>C (n.*4977G>C) c.5734G>C (p.Ala1912Pro) n.6003G>C c.5380G>C (p.Ala1794Pro) c.5845G>C (p.Ala1949Pro) c.5815G>C (p.Ala1939Pro) c.5413G>C (p.Ala1805Pro) c.4651G>C (p.Ala1551Pro) c.3547G>C (p.Ala1183Pro) | |
21 | g.46411807G>T | CA410556433 | PCNT | n.79G>T c.5767G>T (p.Ala1923Ser) c.*4977G>T (n.*4977G>T) c.5734G>T (p.Ala1912Ser) n.6003G>T c.5380G>T (p.Ala1794Ser) c.5845G>T (p.Ala1949Ser) c.5815G>T (p.Ala1939Ser) c.5413G>T (p.Ala1805Ser) c.4651G>T (p.Ala1551Ser) c.3547G>T (p.Ala1183Ser) | gnomAD v4 |
21 | g.46411808C>A | CA410556437 | PCNT | n.80C>A c.5768C>A (p.Ala1923Asp) c.*4978C>A (n.*4978C>A) c.5735C>A (p.Ala1912Asp) n.6004C>A c.5381C>A (p.Ala1794Asp) c.5846C>A (p.Ala1949Asp) c.5816C>A (p.Ala1939Asp) c.5414C>A (p.Ala1805Asp) c.4652C>A (p.Ala1551Asp) c.3548C>A (p.Ala1183Asp) | gnomAD v4 |
21 | g.46411808C>G | CA410556445 | PCNT | n.80C>G c.5768C>G (p.Ala1923Gly) c.*4978C>G (n.*4978C>G) c.5735C>G (p.Ala1912Gly) n.6004C>G c.5381C>G (p.Ala1794Gly) c.5846C>G (p.Ala1949Gly) c.5816C>G (p.Ala1939Gly) c.5414C>G (p.Ala1805Gly) c.4652C>G (p.Ala1551Gly) c.3548C>G (p.Ala1183Gly) | |
21 | g.46411808C>T | CA410556442 | PCNT | n.80C>T c.5768C>T (p.Ala1923Val) c.*4978C>T (n.*4978C>T) c.5735C>T (p.Ala1912Val) n.6004C>T c.5381C>T (p.Ala1794Val) c.5846C>T (p.Ala1949Val) c.5816C>T (p.Ala1939Val) c.5414C>T (p.Ala1805Val) c.4652C>T (p.Ala1551Val) c.3548C>T (p.Ala1183Val) | gnomAD v4 |
21 | g.46411809C>A | CA513173975 | PCNT | n.81C>A c.5769C>A (p.Ala1923=) c.*4979C>A (n.*4979C>A) c.5736C>A (p.Ala1912=) n.6005C>A c.5382C>A (p.Ala1794=) c.5847C>A (p.Ala1949=) c.5817C>A (p.Ala1939=) c.5415C>A (p.Ala1805=) c.4653C>A (p.Ala1551=) c.3549C>A (p.Ala1183=) | gnomAD v4 |
21 | g.46411809C= | CA2392665069 | PCNT | n.81C= c.5769C= (p.Ala1923=) c.*4979C= (n.*4979C=) c.5736C= (p.Ala1912=) n.6005C= c.5382C= (p.Ala1794=) c.5847C= (p.Ala1949=) c.5817C= (p.Ala1939=) c.5415C= (p.Ala1805=) c.4653C= (p.Ala1551=) c.3549C= (p.Ala1183=) | |
21 | g.46411809C>G | CA513173977 | PCNT | n.81C>G c.5769C>G (p.Ala1923=) c.*4979C>G (n.*4979C>G) c.5736C>G (p.Ala1912=) n.6005C>G c.5382C>G (p.Ala1794=) c.5847C>G (p.Ala1949=) c.5817C>G (p.Ala1939=) c.5415C>G (p.Ala1805=) c.4653C>G (p.Ala1551=) c.3549C>G (p.Ala1183=) | |
21 | g.46411809C>T | CA10080076 | PCNT | n.81C>T c.5769C>T (p.Ala1923=) c.*4979C>T (n.*4979C>T) c.5736C>T (p.Ala1912=) n.6005C>T c.5382C>T (p.Ala1794=) c.5847C>T (p.Ala1949=) c.5817C>T (p.Ala1939=) c.5415C>T (p.Ala1805=) c.4653C>T (p.Ala1551=) c.3549C>T (p.Ala1183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411810G>A | CA10080077 | PCNT | n.82G>A c.5770G>A (p.Gly1924Arg) c.*4980G>A (n.*4980G>A) c.5737G>A (p.Gly1913Arg) n.6006G>A c.5383G>A (p.Gly1795Arg) c.5848G>A (p.Gly1950Arg) c.5818G>A (p.Gly1940Arg) c.5416G>A (p.Gly1806Arg) c.4654G>A (p.Gly1552Arg) c.3550G>A (p.Gly1184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411810G>C | CA410556453 | PCNT | n.82G>C c.5770G>C (p.Gly1924Arg) c.*4980G>C (n.*4980G>C) c.5737G>C (p.Gly1913Arg) n.6006G>C c.5383G>C (p.Gly1795Arg) c.5848G>C (p.Gly1950Arg) c.5818G>C (p.Gly1940Arg) c.5416G>C (p.Gly1806Arg) c.4654G>C (p.Gly1552Arg) c.3550G>C (p.Gly1184Arg) | |
21 | g.46411810G= | CA2392665070 | PCNT | n.82G= c.5770G= (p.Gly1924=) c.*4980G= (n.*4980G=) c.5737G= (p.Gly1913=) n.6006G= c.5383G= (p.Gly1795=) c.5848G= (p.Gly1950=) c.5818G= (p.Gly1940=) c.5416G= (p.Gly1806=) c.4654G= (p.Gly1552=) c.3550G= (p.Gly1184=) | |
21 | g.46411810G>T | CA410556456 | PCNT | n.82G>T c.5770G>T (p.Gly1924Trp) c.*4980G>T (n.*4980G>T) c.5737G>T (p.Gly1913Trp) n.6006G>T c.5383G>T (p.Gly1795Trp) c.5848G>T (p.Gly1950Trp) c.5818G>T (p.Gly1940Trp) c.5416G>T (p.Gly1806Trp) c.4654G>T (p.Gly1552Trp) c.3550G>T (p.Gly1184Trp) | gnomAD v4 |
21 | g.46411813del | CA638499669 | PCNT | n.85del c.5773del (p.Ala1925ArgfsTer28) c.*4983del (n.*4983del) c.5740del (p.Ala1914ArgfsTer28) n.6009del c.5386del (p.Ala1796ArgfsTer28) c.5851del (p.Ala1951ArgfsTer28) c.5821del (p.Ala1941ArgfsTer28) c.5419del (p.Ala1807ArgfsTer28) c.4657del (p.Ala1553ArgfsTer28) c.3553del (p.Ala1185ArgfsTer28) | gnomAD v2 gnomAD v4 |
21 | g.46411811G>A | CA410556462 | PCNT | n.83G>A c.5771G>A (p.Gly1924Glu) c.*4981G>A (n.*4981G>A) c.5738G>A (p.Gly1913Glu) n.6007G>A c.5384G>A (p.Gly1795Glu) c.5849G>A (p.Gly1950Glu) c.5819G>A (p.Gly1940Glu) c.5417G>A (p.Gly1806Glu) c.4655G>A (p.Gly1552Glu) c.3551G>A (p.Gly1184Glu) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411811G>C | CA410556465 | PCNT | n.83G>C c.5771G>C (p.Gly1924Ala) c.*4981G>C (n.*4981G>C) c.5738G>C (p.Gly1913Ala) n.6007G>C c.5384G>C (p.Gly1795Ala) c.5849G>C (p.Gly1950Ala) c.5819G>C (p.Gly1940Ala) c.5417G>C (p.Gly1806Ala) c.4655G>C (p.Gly1552Ala) c.3551G>C (p.Gly1184Ala) | gnomAD v4 |
21 | g.46411811G= | CA2392665071 | PCNT | n.83G= c.5771G= (p.Gly1924=) c.*4981G= (n.*4981G=) c.5738G= (p.Gly1913=) n.6007G= c.5384G= (p.Gly1795=) c.5849G= (p.Gly1950=) c.5819G= (p.Gly1940=) c.5417G= (p.Gly1806=) c.4655G= (p.Gly1552=) c.3551G= (p.Gly1184=) | |
21 | g.46411811G>T | CA410556470 | PCNT | n.83G>T c.5771G>T (p.Gly1924Val) c.*4981G>T (n.*4981G>T) c.5738G>T (p.Gly1913Val) n.6007G>T c.5384G>T (p.Gly1795Val) c.5849G>T (p.Gly1950Val) c.5819G>T (p.Gly1940Val) c.5417G>T (p.Gly1806Val) c.4655G>T (p.Gly1552Val) c.3551G>T (p.Gly1184Val) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411812G>A | CA513173992 | PCNT | n.84G>A c.5772G>A (p.Gly1924=) c.*4982G>A (n.*4982G>A) c.5739G>A (p.Gly1913=) n.6008G>A c.5385G>A (p.Gly1795=) c.5850G>A (p.Gly1950=) c.5820G>A (p.Gly1940=) c.5418G>A (p.Gly1806=) c.4656G>A (p.Gly1552=) c.3552G>A (p.Gly1184=) | gnomAD v4 |
21 | g.46411812G>C | CA513173985 | PCNT | n.84G>C c.5772G>C (p.Gly1924=) c.*4982G>C (n.*4982G>C) c.5739G>C (p.Gly1913=) n.6008G>C c.5385G>C (p.Gly1795=) c.5850G>C (p.Gly1950=) c.5820G>C (p.Gly1940=) c.5418G>C (p.Gly1806=) c.4656G>C (p.Gly1552=) c.3552G>C (p.Gly1184=) | |
21 | g.46411812G>T | CA513173987 | PCNT | n.84G>T c.5772G>T (p.Gly1924=) c.*4982G>T (n.*4982G>T) c.5739G>T (p.Gly1913=) n.6008G>T c.5385G>T (p.Gly1795=) c.5850G>T (p.Gly1950=) c.5820G>T (p.Gly1940=) c.5418G>T (p.Gly1806=) c.4656G>T (p.Gly1552=) c.3552G>T (p.Gly1184=) | gnomAD v4 |
21 | g.46411813G>A | CA410556473 | PCNT | n.85G>A c.5773G>A (p.Ala1925Thr) c.*4983G>A (n.*4983G>A) c.5740G>A (p.Ala1914Thr) n.6009G>A c.5386G>A (p.Ala1796Thr) c.5851G>A (p.Ala1951Thr) c.5821G>A (p.Ala1941Thr) c.5419G>A (p.Ala1807Thr) c.4657G>A (p.Ala1553Thr) c.3553G>A (p.Ala1185Thr) | dbSNP gnomAD v4 |
21 | g.46411813G>C | CA410556476 | PCNT | n.85G>C c.5773G>C (p.Ala1925Pro) c.*4983G>C (n.*4983G>C) c.5740G>C (p.Ala1914Pro) n.6009G>C c.5386G>C (p.Ala1796Pro) c.5851G>C (p.Ala1951Pro) c.5821G>C (p.Ala1941Pro) c.5419G>C (p.Ala1807Pro) c.4657G>C (p.Ala1553Pro) c.3553G>C (p.Ala1185Pro) | |
21 | g.46411813G= | CA2392665072 | PCNT | n.85G= c.5773G= (p.Ala1925=) c.*4983G= (n.*4983G=) c.5740G= (p.Ala1914=) n.6009G= c.5386G= (p.Ala1796=) c.5851G= (p.Ala1951=) c.5821G= (p.Ala1941=) c.5419G= (p.Ala1807=) c.4657G= (p.Ala1553=) c.3553G= (p.Ala1185=) | |
21 | g.46411813G>T | CA410556478 | PCNT | n.85G>T c.5773G>T (p.Ala1925Ser) c.*4983G>T (n.*4983G>T) c.5740G>T (p.Ala1914Ser) n.6009G>T c.5386G>T (p.Ala1796Ser) c.5851G>T (p.Ala1951Ser) c.5821G>T (p.Ala1941Ser) c.5419G>T (p.Ala1807Ser) c.4657G>T (p.Ala1553Ser) c.3553G>T (p.Ala1185Ser) | |
21 | g.46411815_46411831del | CA2655023981 | PCNT | n.87_103del c.5775_5791del (p.Ala1926ValfsTer?) c.*4985_*5001del (n.*4985_*5001del) c.5742_5758del (p.Ala1915ValfsTer?) n.6011_6027del c.5388_5404del (p.Ala1797ValfsTer?) c.5853_5869del (p.Ala1952ValfsTer?) c.5823_5839del (p.Ala1942ValfsTer?) c.5421_5437del (p.Ala1808ValfsTer?) c.4659_4675del (p.Ala1554ValfsTer?) c.3555_3571del (p.Ala1186ValfsTer?) | gnomAD v4 |
21 | g.46411814del | CA2818112078 | PCNT | n.86del c.5774del (p.Ala1925GlyfsTer28) c.*4984del (n.*4984del) c.5741del (p.Ala1914GlyfsTer28) n.6010del c.5387del (p.Ala1796GlyfsTer28) c.5852del (p.Ala1951GlyfsTer28) c.5822del (p.Ala1941GlyfsTer28) c.5420del (p.Ala1807GlyfsTer28) c.4658del (p.Ala1553GlyfsTer28) c.3554del (p.Ala1185GlyfsTer28) | |
21 | g.46411814C>A | CA410556481 | PCNT | n.86C>A c.5774C>A (p.Ala1925Glu) c.*4984C>A (n.*4984C>A) c.5741C>A (p.Ala1914Glu) n.6010C>A c.5387C>A (p.Ala1796Glu) c.5852C>A (p.Ala1951Glu) c.5822C>A (p.Ala1941Glu) c.5420C>A (p.Ala1807Glu) c.4658C>A (p.Ala1553Glu) c.3554C>A (p.Ala1185Glu) | gnomAD v4 |
21 | g.46411814C= | CA2392665073 | PCNT | n.86C= c.5774C= (p.Ala1925=) c.*4984C= (n.*4984C=) c.5741C= (p.Ala1914=) n.6010C= c.5387C= (p.Ala1796=) c.5852C= (p.Ala1951=) c.5822C= (p.Ala1941=) c.5420C= (p.Ala1807=) c.4658C= (p.Ala1553=) c.3554C= (p.Ala1185=) | |
21 | g.46411814C>G | CA410556484 | PCNT | n.86C>G c.5774C>G (p.Ala1925Gly) c.*4984C>G (n.*4984C>G) c.5741C>G (p.Ala1914Gly) n.6010C>G c.5387C>G (p.Ala1796Gly) c.5852C>G (p.Ala1951Gly) c.5822C>G (p.Ala1941Gly) c.5420C>G (p.Ala1807Gly) c.4658C>G (p.Ala1553Gly) c.3554C>G (p.Ala1185Gly) | |
21 | g.46411814C>T | CA10080078 | PCNT | n.86C>T c.5774C>T (p.Ala1925Val) c.*4984C>T (n.*4984C>T) c.5741C>T (p.Ala1914Val) n.6010C>T c.5387C>T (p.Ala1796Val) c.5852C>T (p.Ala1951Val) c.5822C>T (p.Ala1941Val) c.5420C>T (p.Ala1807Val) c.4658C>T (p.Ala1553Val) c.3554C>T (p.Ala1185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411815G>A | CA173032 | PCNT | n.87G>A c.5775G>A (p.Ala1925=) c.*4985G>A (n.*4985G>A) c.5742G>A (p.Ala1914=) n.6011G>A c.5388G>A (p.Ala1796=) c.5853G>A (p.Ala1951=) c.5823G>A (p.Ala1941=) c.5421G>A (p.Ala1807=) c.4659G>A (p.Ala1553=) c.3555G>A (p.Ala1185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411815G>C | CA513173995 | PCNT | n.87G>C c.5775G>C (p.Ala1925=) c.*4985G>C (n.*4985G>C) c.5742G>C (p.Ala1914=) n.6011G>C c.5388G>C (p.Ala1796=) c.5853G>C (p.Ala1951=) c.5823G>C (p.Ala1941=) c.5421G>C (p.Ala1807=) c.4659G>C (p.Ala1553=) c.3555G>C (p.Ala1185=) | |
21 | g.46411815G= | CA2392665074 | PCNT | n.87G= c.5775G= (p.Ala1925=) c.*4985G= (n.*4985G=) c.5742G= (p.Ala1914=) n.6011G= c.5388G= (p.Ala1796=) c.5853G= (p.Ala1951=) c.5823G= (p.Ala1941=) c.5421G= (p.Ala1807=) c.4659G= (p.Ala1553=) c.3555G= (p.Ala1185=) | |
21 | g.46411815G>T | CA513173996 | PCNT | n.87G>T c.5775G>T (p.Ala1925=) c.*4985G>T (n.*4985G>T) c.5742G>T (p.Ala1914=) n.6011G>T c.5388G>T (p.Ala1796=) c.5853G>T (p.Ala1951=) c.5823G>T (p.Ala1941=) c.5421G>T (p.Ala1807=) c.4659G>T (p.Ala1553=) c.3555G>T (p.Ala1185=) | |
21 | g.46411816G>A | CA10080079 | PCNT | n.88G>A c.5776G>A (p.Ala1926Thr) c.*4986G>A (n.*4986G>A) c.5743G>A (p.Ala1915Thr) n.6012G>A c.5389G>A (p.Ala1797Thr) c.5854G>A (p.Ala1952Thr) c.5824G>A (p.Ala1942Thr) c.5422G>A (p.Ala1808Thr) c.4660G>A (p.Ala1554Thr) c.3556G>A (p.Ala1186Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411816G>C | CA410556499 | PCNT | n.88G>C c.5776G>C (p.Ala1926Pro) c.*4986G>C (n.*4986G>C) c.5743G>C (p.Ala1915Pro) n.6012G>C c.5389G>C (p.Ala1797Pro) c.5854G>C (p.Ala1952Pro) c.5824G>C (p.Ala1942Pro) c.5422G>C (p.Ala1808Pro) c.4660G>C (p.Ala1554Pro) c.3556G>C (p.Ala1186Pro) | |
21 | g.46411816G= | CA2392665075 | PCNT | n.88G= c.5776G= (p.Ala1926=) c.*4986G= (n.*4986G=) c.5743G= (p.Ala1915=) n.6012G= c.5389G= (p.Ala1797=) c.5854G= (p.Ala1952=) c.5824G= (p.Ala1942=) c.5422G= (p.Ala1808=) c.4660G= (p.Ala1554=) c.3556G= (p.Ala1186=) | |
21 | g.46411816G>T | CA410556496 | PCNT | n.88G>T c.5776G>T (p.Ala1926Ser) c.*4986G>T (n.*4986G>T) c.5743G>T (p.Ala1915Ser) n.6012G>T c.5389G>T (p.Ala1797Ser) c.5854G>T (p.Ala1952Ser) c.5824G>T (p.Ala1942Ser) c.5422G>T (p.Ala1808Ser) c.4660G>T (p.Ala1554Ser) c.3556G>T (p.Ala1186Ser) | gnomAD v4 |
21 | g.46411817C>A | CA410556503 | PCNT | n.89C>A c.5777C>A (p.Ala1926Glu) c.*4987C>A (n.*4987C>A) c.5744C>A (p.Ala1915Glu) n.6013C>A c.5390C>A (p.Ala1797Glu) c.5855C>A (p.Ala1952Glu) c.5825C>A (p.Ala1942Glu) c.5423C>A (p.Ala1808Glu) c.4661C>A (p.Ala1554Glu) c.3557C>A (p.Ala1186Glu) | dbSNP gnomAD v4 |
21 | g.46411817C= | CA2392665076 | PCNT | n.89C= c.5777C= (p.Ala1926=) c.*4987C= (n.*4987C=) c.5744C= (p.Ala1915=) n.6013C= c.5390C= (p.Ala1797=) c.5855C= (p.Ala1952=) c.5825C= (p.Ala1942=) c.5423C= (p.Ala1808=) c.4661C= (p.Ala1554=) c.3557C= (p.Ala1186=) | |
21 | g.46411817C>G | CA410556504 | PCNT | n.89C>G c.5777C>G (p.Ala1926Gly) c.*4987C>G (n.*4987C>G) c.5744C>G (p.Ala1915Gly) n.6013C>G c.5390C>G (p.Ala1797Gly) c.5855C>G (p.Ala1952Gly) c.5825C>G (p.Ala1942Gly) c.5423C>G (p.Ala1808Gly) c.4661C>G (p.Ala1554Gly) c.3557C>G (p.Ala1186Gly) | |
21 | g.46411817C>T | CA410556507 | PCNT | n.89C>T c.5777C>T (p.Ala1926Val) c.*4987C>T (n.*4987C>T) c.5744C>T (p.Ala1915Val) n.6013C>T c.5390C>T (p.Ala1797Val) c.5855C>T (p.Ala1952Val) c.5825C>T (p.Ala1942Val) c.5423C>T (p.Ala1808Val) c.4661C>T (p.Ala1554Val) c.3557C>T (p.Ala1186Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411818G>A | CA513173998 | PCNT | n.90G>A c.5778G>A (p.Ala1926=) c.*4988G>A (n.*4988G>A) c.5745G>A (p.Ala1915=) n.6014G>A c.5391G>A (p.Ala1797=) c.5856G>A (p.Ala1952=) c.5826G>A (p.Ala1942=) c.5424G>A (p.Ala1808=) c.4662G>A (p.Ala1554=) c.3558G>A (p.Ala1186=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411818G>C | CA513173999 | PCNT | n.90G>C c.5778G>C (p.Ala1926=) c.*4988G>C (n.*4988G>C) c.5745G>C (p.Ala1915=) n.6014G>C c.5391G>C (p.Ala1797=) c.5856G>C (p.Ala1952=) c.5826G>C (p.Ala1942=) c.5424G>C (p.Ala1808=) c.4662G>C (p.Ala1554=) c.3558G>C (p.Ala1186=) | dbSNP |
21 | g.46411818G= | CA2392665077 | PCNT | n.90G= c.5778G= (p.Ala1926=) c.*4988G= (n.*4988G=) c.5745G= (p.Ala1915=) n.6014G= c.5391G= (p.Ala1797=) c.5856G= (p.Ala1952=) c.5826G= (p.Ala1942=) c.5424G= (p.Ala1808=) c.4662G= (p.Ala1554=) c.3558G= (p.Ala1186=) | |
21 | g.46411818G>T | CA513174000 | PCNT | n.90G>T c.5778G>T (p.Ala1926=) c.*4988G>T (n.*4988G>T) c.5745G>T (p.Ala1915=) n.6014G>T c.5391G>T (p.Ala1797=) c.5856G>T (p.Ala1952=) c.5826G>T (p.Ala1942=) c.5424G>T (p.Ala1808=) c.4662G>T (p.Ala1554=) c.3558G>T (p.Ala1186=) | gnomAD v4 |
21 | g.46411819C>A | CA410556511 | PCNT | n.91C>A c.5779C>A (p.Pro1927Thr) c.*4989C>A (n.*4989C>A) c.5746C>A (p.Pro1916Thr) n.6015C>A c.5392C>A (p.Pro1798Thr) c.5857C>A (p.Pro1953Thr) c.5827C>A (p.Pro1943Thr) c.5425C>A (p.Pro1809Thr) c.4663C>A (p.Pro1555Thr) c.3559C>A (p.Pro1187Thr) | gnomAD v4 |
21 | g.46411819C>G | CA410556513 | PCNT | n.91C>G c.5779C>G (p.Pro1927Ala) c.*4989C>G (n.*4989C>G) c.5746C>G (p.Pro1916Ala) n.6015C>G c.5392C>G (p.Pro1798Ala) c.5857C>G (p.Pro1953Ala) c.5827C>G (p.Pro1943Ala) c.5425C>G (p.Pro1809Ala) c.4663C>G (p.Pro1555Ala) c.3559C>G (p.Pro1187Ala) | |
21 | g.46411819C>T | CA410556515 | PCNT | n.91C>T c.5779C>T (p.Pro1927Ser) c.*4989C>T (n.*4989C>T) c.5746C>T (p.Pro1916Ser) n.6015C>T c.5392C>T (p.Pro1798Ser) c.5857C>T (p.Pro1953Ser) c.5827C>T (p.Pro1943Ser) c.5425C>T (p.Pro1809Ser) c.4663C>T (p.Pro1555Ser) c.3559C>T (p.Pro1187Ser) | gnomAD v4 |
21 | g.46411820C>A | CA410556517 | PCNT | n.92C>A c.5780C>A (p.Pro1927His) c.*4990C>A (n.*4990C>A) c.5747C>A (p.Pro1916His) n.6016C>A c.5393C>A (p.Pro1798His) c.5858C>A (p.Pro1953His) c.5828C>A (p.Pro1943His) c.5426C>A (p.Pro1809His) c.4664C>A (p.Pro1555His) c.3560C>A (p.Pro1187His) | |
21 | g.46411820C= | CA2392665078 | PCNT | n.92C= c.5780C= (p.Pro1927=) c.*4990C= (n.*4990C=) c.5747C= (p.Pro1916=) n.6016C= c.5393C= (p.Pro1798=) c.5858C= (p.Pro1953=) c.5828C= (p.Pro1943=) c.5426C= (p.Pro1809=) c.4664C= (p.Pro1555=) c.3560C= (p.Pro1187=) | |
21 | g.46411820C>G | CA410556518 | PCNT | n.92C>G c.5780C>G (p.Pro1927Arg) c.*4990C>G (n.*4990C>G) c.5747C>G (p.Pro1916Arg) n.6016C>G c.5393C>G (p.Pro1798Arg) c.5858C>G (p.Pro1953Arg) c.5828C>G (p.Pro1943Arg) c.5426C>G (p.Pro1809Arg) c.4664C>G (p.Pro1555Arg) c.3560C>G (p.Pro1187Arg) | gnomAD v4 |
21 | g.46411820C>T | CA10080080 | PCNT | n.92C>T c.5780C>T (p.Pro1927Leu) c.*4990C>T (n.*4990C>T) c.5747C>T (p.Pro1916Leu) n.6016C>T c.5393C>T (p.Pro1798Leu) c.5858C>T (p.Pro1953Leu) c.5828C>T (p.Pro1943Leu) c.5426C>T (p.Pro1809Leu) c.4664C>T (p.Pro1555Leu) c.3560C>T (p.Pro1187Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411821T>A | CA513174006 | PCNT | n.93T>A c.5781T>A (p.Pro1927=) c.*4991T>A (n.*4991T>A) c.5748T>A (p.Pro1916=) n.6017T>A c.5394T>A (p.Pro1798=) c.5859T>A (p.Pro1953=) c.5829T>A (p.Pro1943=) c.5427T>A (p.Pro1809=) c.4665T>A (p.Pro1555=) c.3561T>A (p.Pro1187=) | |
21 | g.46411821T>C | CA513174008 | PCNT | n.93T>C c.5781T>C (p.Pro1927=) c.*4991T>C (n.*4991T>C) c.5748T>C (p.Pro1916=) n.6017T>C c.5394T>C (p.Pro1798=) c.5859T>C (p.Pro1953=) c.5829T>C (p.Pro1943=) c.5427T>C (p.Pro1809=) c.4665T>C (p.Pro1555=) c.3561T>C (p.Pro1187=) | |
21 | g.46411821T>G | CA513174007 | PCNT | n.93T>G c.5781T>G (p.Pro1927=) c.*4991T>G (n.*4991T>G) c.5748T>G (p.Pro1916=) n.6017T>G c.5394T>G (p.Pro1798=) c.5859T>G (p.Pro1953=) c.5829T>G (p.Pro1943=) c.5427T>G (p.Pro1809=) c.4665T>G (p.Pro1555=) c.3561T>G (p.Pro1187=) | |
21 | g.46411822C>A | CA410556527 | PCNT | n.94C>A c.5782C>A (p.Pro1928Thr) c.*4992C>A (n.*4992C>A) c.5749C>A (p.Pro1917Thr) n.6018C>A c.5395C>A (p.Pro1799Thr) c.5860C>A (p.Pro1954Thr) c.5830C>A (p.Pro1944Thr) c.5428C>A (p.Pro1810Thr) c.4666C>A (p.Pro1556Thr) c.3562C>A (p.Pro1188Thr) | |
21 | g.46411822C>G | CA410556530 | PCNT | n.94C>G c.5782C>G (p.Pro1928Ala) c.*4992C>G (n.*4992C>G) c.5749C>G (p.Pro1917Ala) n.6018C>G c.5395C>G (p.Pro1799Ala) c.5860C>G (p.Pro1954Ala) c.5830C>G (p.Pro1944Ala) c.5428C>G (p.Pro1810Ala) c.4666C>G (p.Pro1556Ala) c.3562C>G (p.Pro1188Ala) | |
21 | g.46411822C>T | CA410556519 | PCNT | n.94C>T c.5782C>T (p.Pro1928Ser) c.*4992C>T (n.*4992C>T) c.5749C>T (p.Pro1917Ser) n.6018C>T c.5395C>T (p.Pro1799Ser) c.5860C>T (p.Pro1954Ser) c.5830C>T (p.Pro1944Ser) c.5428C>T (p.Pro1810Ser) c.4666C>T (p.Pro1556Ser) c.3562C>T (p.Pro1188Ser) | gnomAD v4 |
21 | g.46411823C>A | CA410556533 | PCNT | n.95C>A c.5783C>A (p.Pro1928His) c.*4993C>A (n.*4993C>A) c.5750C>A (p.Pro1917His) n.6019C>A c.5396C>A (p.Pro1799His) c.5861C>A (p.Pro1954His) c.5831C>A (p.Pro1944His) c.5429C>A (p.Pro1810His) c.4667C>A (p.Pro1556His) c.3563C>A (p.Pro1188His) | |
21 | g.46411823C>G | CA410556536 | PCNT | n.95C>G c.5783C>G (p.Pro1928Arg) c.*4993C>G (n.*4993C>G) c.5750C>G (p.Pro1917Arg) n.6019C>G c.5396C>G (p.Pro1799Arg) c.5861C>G (p.Pro1954Arg) c.5831C>G (p.Pro1944Arg) c.5429C>G (p.Pro1810Arg) c.4667C>G (p.Pro1556Arg) c.3563C>G (p.Pro1188Arg) | |
21 | g.46411823C>T | CA410556541 | PCNT | n.95C>T c.5783C>T (p.Pro1928Leu) c.*4993C>T (n.*4993C>T) c.5750C>T (p.Pro1917Leu) n.6019C>T c.5396C>T (p.Pro1799Leu) c.5861C>T (p.Pro1954Leu) c.5831C>T (p.Pro1944Leu) c.5429C>T (p.Pro1810Leu) c.4667C>T (p.Pro1556Leu) c.3563C>T (p.Pro1188Leu) | |
21 | g.46411824C>A | CA513174011 | PCNT | n.96C>A c.5784C>A (p.Pro1928=) c.*4994C>A (n.*4994C>A) c.5751C>A (p.Pro1917=) n.6020C>A c.5397C>A (p.Pro1799=) c.5862C>A (p.Pro1954=) c.5832C>A (p.Pro1944=) c.5430C>A (p.Pro1810=) c.4668C>A (p.Pro1556=) c.3564C>A (p.Pro1188=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411824C= | CA2392665079 | PCNT | n.96C= c.5784C= (p.Pro1928=) c.*4994C= (n.*4994C=) c.5751C= (p.Pro1917=) n.6020C= c.5397C= (p.Pro1799=) c.5862C= (p.Pro1954=) c.5832C= (p.Pro1944=) c.5430C= (p.Pro1810=) c.4668C= (p.Pro1556=) c.3564C= (p.Pro1188=) | |
21 | g.46411824C>G | CA513174012 | PCNT | n.96C>G c.5784C>G (p.Pro1928=) c.*4994C>G (n.*4994C>G) c.5751C>G (p.Pro1917=) n.6020C>G c.5397C>G (p.Pro1799=) c.5862C>G (p.Pro1954=) c.5832C>G (p.Pro1944=) c.5430C>G (p.Pro1810=) c.4668C>G (p.Pro1556=) c.3564C>G (p.Pro1188=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411824C>T | CA10080081 | PCNT | n.96C>T c.5784C>T (p.Pro1928=) c.*4994C>T (n.*4994C>T) c.5751C>T (p.Pro1917=) n.6020C>T c.5397C>T (p.Pro1799=) c.5862C>T (p.Pro1954=) c.5832C>T (p.Pro1944=) c.5430C>T (p.Pro1810=) c.4668C>T (p.Pro1556=) c.3564C>T (p.Pro1188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411825G>A | CA10080082 | PCNT | n.97G>A c.5785G>A (p.Glu1929Lys) c.*4995G>A (n.*4995G>A) c.5752G>A (p.Glu1918Lys) n.6021G>A c.5398G>A (p.Glu1800Lys) c.5863G>A (p.Glu1955Lys) c.5833G>A (p.Glu1945Lys) c.5431G>A (p.Glu1811Lys) c.4669G>A (p.Glu1557Lys) c.3565G>A (p.Glu1189Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411825G>C | CA410556551 | PCNT | n.97G>C c.5785G>C (p.Glu1929Gln) c.*4995G>C (n.*4995G>C) c.5752G>C (p.Glu1918Gln) n.6021G>C c.5398G>C (p.Glu1800Gln) c.5863G>C (p.Glu1955Gln) c.5833G>C (p.Glu1945Gln) c.5431G>C (p.Glu1811Gln) c.4669G>C (p.Glu1557Gln) c.3565G>C (p.Glu1189Gln) | dbSNP gnomAD v4 |
21 | g.46411825G= | CA2392665080 | PCNT | n.97G= c.5785G= (p.Glu1929=) c.*4995G= (n.*4995G=) c.5752G= (p.Glu1918=) n.6021G= c.5398G= (p.Glu1800=) c.5863G= (p.Glu1955=) c.5833G= (p.Glu1945=) c.5431G= (p.Glu1811=) c.4669G= (p.Glu1557=) c.3565G= (p.Glu1189=) | |
21 | g.46411825G>T | CA410556554 | PCNT | n.97G>T c.5785G>T (p.Glu1929Ter) c.*4995G>T (n.*4995G>T) c.5752G>T (p.Glu1918Ter) n.6021G>T c.5398G>T (p.Glu1800Ter) c.5863G>T (p.Glu1955Ter) c.5833G>T (p.Glu1945Ter) c.5431G>T (p.Glu1811Ter) c.4669G>T (p.Glu1557Ter) c.3565G>T (p.Glu1189Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411826A= | CA2392665081 | PCNT | n.98A= c.5786A= (p.Glu1929=) c.*4996A= (n.*4996A=) c.5753A= (p.Glu1918=) n.6022A= c.5399A= (p.Glu1800=) c.5864A= (p.Glu1955=) c.5834A= (p.Glu1945=) c.5432A= (p.Glu1811=) c.4670A= (p.Glu1557=) c.3566A= (p.Glu1189=) | |
21 | g.46411826A>C | CA410556559 | PCNT | n.98A>C c.5786A>C (p.Glu1929Ala) c.*4996A>C (n.*4996A>C) c.5753A>C (p.Glu1918Ala) n.6022A>C c.5399A>C (p.Glu1800Ala) c.5864A>C (p.Glu1955Ala) c.5834A>C (p.Glu1945Ala) c.5432A>C (p.Glu1811Ala) c.4670A>C (p.Glu1557Ala) c.3566A>C (p.Glu1189Ala) | |
21 | g.46411826A>G | CA410556560 | PCNT | n.98A>G c.5786A>G (p.Glu1929Gly) c.*4996A>G (n.*4996A>G) c.5753A>G (p.Glu1918Gly) n.6022A>G c.5399A>G (p.Glu1800Gly) c.5864A>G (p.Glu1955Gly) c.5834A>G (p.Glu1945Gly) c.5432A>G (p.Glu1811Gly) c.4670A>G (p.Glu1557Gly) c.3566A>G (p.Glu1189Gly) | |
21 | g.46411826A>T | CA410556562 | PCNT | n.98A>T c.5786A>T (p.Glu1929Val) c.*4996A>T (n.*4996A>T) c.5753A>T (p.Glu1918Val) n.6022A>T c.5399A>T (p.Glu1800Val) c.5864A>T (p.Glu1955Val) c.5834A>T (p.Glu1945Val) c.5432A>T (p.Glu1811Val) c.4670A>T (p.Glu1557Val) c.3566A>T (p.Glu1189Val) | dbSNP |
21 | g.46411827G>A | CA513174020 | PCNT | n.99G>A c.5787G>A (p.Glu1929=) c.*4997G>A (n.*4997G>A) c.5754G>A (p.Glu1918=) n.6023G>A c.5400G>A (p.Glu1800=) c.5865G>A (p.Glu1955=) c.5835G>A (p.Glu1945=) c.5433G>A (p.Glu1811=) c.4671G>A (p.Glu1557=) c.3567G>A (p.Glu1189=) | gnomAD v4 |
21 | g.46411827G>C | CA410556565 | PCNT | n.99G>C c.5787G>C (p.Glu1929Asp) c.*4997G>C (n.*4997G>C) c.5754G>C (p.Glu1918Asp) n.6023G>C c.5400G>C (p.Glu1800Asp) c.5865G>C (p.Glu1955Asp) c.5835G>C (p.Glu1945Asp) c.5433G>C (p.Glu1811Asp) c.4671G>C (p.Glu1557Asp) c.3567G>C (p.Glu1189Asp) | |
21 | g.46411827G>T | CA410556566 | PCNT | n.99G>T c.5787G>T (p.Glu1929Asp) c.*4997G>T (n.*4997G>T) c.5754G>T (p.Glu1918Asp) n.6023G>T c.5400G>T (p.Glu1800Asp) c.5865G>T (p.Glu1955Asp) c.5835G>T (p.Glu1945Asp) c.5433G>T (p.Glu1811Asp) c.4671G>T (p.Glu1557Asp) c.3567G>T (p.Glu1189Asp) | gnomAD v4 |
21 | g.46411828C>A | CA410556570 | PCNT | n.100C>A c.5788C>A (p.Leu1930Met) c.*4998C>A (n.*4998C>A) c.5755C>A (p.Leu1919Met) n.6024C>A c.5401C>A (p.Leu1801Met) c.5866C>A (p.Leu1956Met) c.5836C>A (p.Leu1946Met) c.5434C>A (p.Leu1812Met) c.4672C>A (p.Leu1558Met) c.3568C>A (p.Leu1190Met) | gnomAD v4 |
21 | g.46411828C>G | CA410556567 | PCNT | n.100C>G c.5788C>G (p.Leu1930Val) c.*4998C>G (n.*4998C>G) c.5755C>G (p.Leu1919Val) n.6024C>G c.5401C>G (p.Leu1801Val) c.5866C>G (p.Leu1956Val) c.5836C>G (p.Leu1946Val) c.5434C>G (p.Leu1812Val) c.4672C>G (p.Leu1558Val) c.3568C>G (p.Leu1190Val) | |
21 | g.46411828C>T | CA513174021 | PCNT | n.100C>T c.5788C>T (p.Leu1930=) c.*4998C>T (n.*4998C>T) c.5755C>T (p.Leu1919=) n.6024C>T c.5401C>T (p.Leu1801=) c.5866C>T (p.Leu1956=) c.5836C>T (p.Leu1946=) c.5434C>T (p.Leu1812=) c.4672C>T (p.Leu1558=) c.3568C>T (p.Leu1190=) | |
21 | g.46411829T>A | CA410556573 | PCNT | n.101T>A c.5789T>A (p.Leu1930Gln) c.*4999T>A (n.*4999T>A) c.5756T>A (p.Leu1919Gln) n.6025T>A c.5402T>A (p.Leu1801Gln) c.5867T>A (p.Leu1956Gln) c.5837T>A (p.Leu1946Gln) c.5435T>A (p.Leu1812Gln) c.4673T>A (p.Leu1558Gln) c.3569T>A (p.Leu1190Gln) | |
21 | g.46411829T>C | CA10080083 | PCNT | n.101T>C c.5789T>C (p.Leu1930Pro) c.*4999T>C (n.*4999T>C) c.5756T>C (p.Leu1919Pro) n.6025T>C c.5402T>C (p.Leu1801Pro) c.5867T>C (p.Leu1956Pro) c.5837T>C (p.Leu1946Pro) c.5435T>C (p.Leu1812Pro) c.4673T>C (p.Leu1558Pro) c.3569T>C (p.Leu1190Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411829T>G | CA410556581 | PCNT | n.101T>G c.5789T>G (p.Leu1930Arg) c.*4999T>G (n.*4999T>G) c.5756T>G (p.Leu1919Arg) n.6025T>G c.5402T>G (p.Leu1801Arg) c.5867T>G (p.Leu1956Arg) c.5837T>G (p.Leu1946Arg) c.5435T>G (p.Leu1812Arg) c.4673T>G (p.Leu1558Arg) c.3569T>G (p.Leu1190Arg) | |
21 | g.46411829T= | CA2392665082 | PCNT | n.101T= c.5789T= (p.Leu1930=) c.*4999T= (n.*4999T=) c.5756T= (p.Leu1919=) n.6025T= c.5402T= (p.Leu1801=) c.5867T= (p.Leu1956=) c.5837T= (p.Leu1946=) c.5435T= (p.Leu1812=) c.4673T= (p.Leu1558=) c.3569T= (p.Leu1190=) | |
21 | g.46411830G>A | CA513174029 | PCNT | n.102G>A c.5790G>A (p.Leu1930=) c.*5000G>A (n.*5000G>A) c.5757G>A (p.Leu1919=) n.6026G>A c.5403G>A (p.Leu1801=) c.5868G>A (p.Leu1956=) c.5838G>A (p.Leu1946=) c.5436G>A (p.Leu1812=) c.4674G>A (p.Leu1558=) c.3570G>A (p.Leu1190=) | |
21 | g.46411830G>C | CA513174027 | PCNT | n.102G>C c.5790G>C (p.Leu1930=) c.*5000G>C (n.*5000G>C) c.5757G>C (p.Leu1919=) n.6026G>C c.5403G>C (p.Leu1801=) c.5868G>C (p.Leu1956=) c.5838G>C (p.Leu1946=) c.5436G>C (p.Leu1812=) c.4674G>C (p.Leu1558=) c.3570G>C (p.Leu1190=) | |
21 | g.46411830G>T | CA513174028 | PCNT | n.102G>T c.5790G>T (p.Leu1930=) c.*5000G>T (n.*5000G>T) c.5757G>T (p.Leu1919=) n.6026G>T c.5403G>T (p.Leu1801=) c.5868G>T (p.Leu1956=) c.5838G>T (p.Leu1946=) c.5436G>T (p.Leu1812=) c.4674G>T (p.Leu1558=) c.3570G>T (p.Leu1190=) | ClinVar dbSNP gnomAD v4 |
21 | g.46411831C>A | CA410556584 | PCNT | n.103C>A c.5791C>A (p.Gln1931Lys) c.*5001C>A (n.*5001C>A) c.5758C>A (p.Gln1920Lys) n.6027C>A c.5404C>A (p.Gln1802Lys) c.5869C>A (p.Gln1957Lys) c.5839C>A (p.Gln1947Lys) c.5437C>A (p.Gln1813Lys) c.4675C>A (p.Gln1559Lys) c.3571C>A (p.Gln1191Lys) | |
21 | g.46411831C>G | CA410556587 | PCNT | n.103C>G c.5791C>G (p.Gln1931Glu) c.*5001C>G (n.*5001C>G) c.5758C>G (p.Gln1920Glu) n.6027C>G c.5404C>G (p.Gln1802Glu) c.5869C>G (p.Gln1957Glu) c.5839C>G (p.Gln1947Glu) c.5437C>G (p.Gln1813Glu) c.4675C>G (p.Gln1559Glu) c.3571C>G (p.Gln1191Glu) | |
21 | g.46411831C>T | CA410556594 | PCNT | n.103C>T c.5791C>T (p.Gln1931Ter) c.*5001C>T (n.*5001C>T) c.5758C>T (p.Gln1920Ter) n.6027C>T c.5404C>T (p.Gln1802Ter) c.5869C>T (p.Gln1957Ter) c.5839C>T (p.Gln1947Ter) c.5437C>T (p.Gln1813Ter) c.4675C>T (p.Gln1559Ter) c.3571C>T (p.Gln1191Ter) | |
21 | g.46411832A>C | CA410556598 | PCNT | n.104A>C c.5792A>C (p.Gln1931Pro) c.*5002A>C (n.*5002A>C) c.5759A>C (p.Gln1920Pro) n.6028A>C c.5405A>C (p.Gln1802Pro) c.5870A>C (p.Gln1957Pro) c.5840A>C (p.Gln1947Pro) c.5438A>C (p.Gln1813Pro) c.4676A>C (p.Gln1559Pro) c.3572A>C (p.Gln1191Pro) | |
21 | g.46411832A>G | CA410556601 | PCNT | n.104A>G c.5792A>G (p.Gln1931Arg) c.*5002A>G (n.*5002A>G) c.5759A>G (p.Gln1920Arg) n.6028A>G c.5405A>G (p.Gln1802Arg) c.5870A>G (p.Gln1957Arg) c.5840A>G (p.Gln1947Arg) c.5438A>G (p.Gln1813Arg) c.4676A>G (p.Gln1559Arg) c.3572A>G (p.Gln1191Arg) | |
21 | g.46411832A>T | CA410556603 | PCNT | n.104A>T c.5792A>T (p.Gln1931Leu) c.*5002A>T (n.*5002A>T) c.5759A>T (p.Gln1920Leu) n.6028A>T c.5405A>T (p.Gln1802Leu) c.5870A>T (p.Gln1957Leu) c.5840A>T (p.Gln1947Leu) c.5438A>T (p.Gln1813Leu) c.4676A>T (p.Gln1559Leu) c.3572A>T (p.Gln1191Leu) | |
21 | g.46411833G>A | CA513174031 | PCNT | n.105G>A c.5793G>A (p.Gln1931=) c.*5003G>A (n.*5003G>A) c.5760G>A (p.Gln1920=) n.6029G>A c.5406G>A (p.Gln1802=) c.5871G>A (p.Gln1957=) c.5841G>A (p.Gln1947=) c.5439G>A (p.Gln1813=) c.4677G>A (p.Gln1559=) c.3573G>A (p.Gln1191=) | |
21 | g.46411833G>C | CA410556606 | PCNT | n.105G>C c.5793G>C (p.Gln1931His) c.*5003G>C (n.*5003G>C) c.5760G>C (p.Gln1920His) n.6029G>C c.5406G>C (p.Gln1802His) c.5871G>C (p.Gln1957His) c.5841G>C (p.Gln1947His) c.5439G>C (p.Gln1813His) c.4677G>C (p.Gln1559His) c.3573G>C (p.Gln1191His) | gnomAD v4 |
21 | g.46411833G>T | CA410556610 | PCNT | n.105G>T c.5793G>T (p.Gln1931His) c.*5003G>T (n.*5003G>T) c.5760G>T (p.Gln1920His) n.6029G>T c.5406G>T (p.Gln1802His) c.5871G>T (p.Gln1957His) c.5841G>T (p.Gln1947His) c.5439G>T (p.Gln1813His) c.4677G>T (p.Gln1559His) c.3573G>T (p.Gln1191His) | gnomAD v4 |
21 | g.46411834T>A | CA410556615 | PCNT | n.106T>A c.5794T>A (p.Trp1932Arg) c.*5004T>A (n.*5004T>A) c.5761T>A (p.Trp1921Arg) n.6030T>A c.5407T>A (p.Trp1803Arg) c.5872T>A (p.Trp1958Arg) c.5842T>A (p.Trp1948Arg) c.5440T>A (p.Trp1814Arg) c.4678T>A (p.Trp1560Arg) c.3574T>A (p.Trp1192Arg) | |
21 | g.46411834T>C | CA10080084 | PCNT | n.106T>C c.5794T>C (p.Trp1932Arg) c.*5004T>C (n.*5004T>C) c.5761T>C (p.Trp1921Arg) n.6030T>C c.5407T>C (p.Trp1803Arg) c.5872T>C (p.Trp1958Arg) c.5842T>C (p.Trp1948Arg) c.5440T>C (p.Trp1814Arg) c.4678T>C (p.Trp1560Arg) c.3574T>C (p.Trp1192Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411834T>G | CA410556620 | PCNT | n.106T>G c.5794T>G (p.Trp1932Gly) c.*5004T>G (n.*5004T>G) c.5761T>G (p.Trp1921Gly) n.6030T>G c.5407T>G (p.Trp1803Gly) c.5872T>G (p.Trp1958Gly) c.5842T>G (p.Trp1948Gly) c.5440T>G (p.Trp1814Gly) c.4678T>G (p.Trp1560Gly) c.3574T>G (p.Trp1192Gly) | dbSNP |
21 | g.46411834T= | CA2392665083 | PCNT | n.106T= c.5794T= (p.Trp1932=) c.*5004T= (n.*5004T=) c.5761T= (p.Trp1921=) n.6030T= c.5407T= (p.Trp1803=) c.5872T= (p.Trp1958=) c.5842T= (p.Trp1948=) c.5440T= (p.Trp1814=) c.4678T= (p.Trp1560=) c.3574T= (p.Trp1192=) | |
21 | g.46411835G>A | CA410556628 | PCNT | n.107G>A c.5795G>A (p.Trp1932Ter) c.*5005G>A (n.*5005G>A) c.5762G>A (p.Trp1921Ter) n.6031G>A c.5408G>A (p.Trp1803Ter) c.5873G>A (p.Trp1958Ter) c.5843G>A (p.Trp1948Ter) c.5441G>A (p.Trp1814Ter) c.4679G>A (p.Trp1560Ter) c.3575G>A (p.Trp1192Ter) | gnomAD v4 |
21 | g.46411835G>C | CA410556631 | PCNT | n.107G>C c.5795G>C (p.Trp1932Ser) c.*5005G>C (n.*5005G>C) c.5762G>C (p.Trp1921Ser) n.6031G>C c.5408G>C (p.Trp1803Ser) c.5873G>C (p.Trp1958Ser) c.5843G>C (p.Trp1948Ser) c.5441G>C (p.Trp1814Ser) c.4679G>C (p.Trp1560Ser) c.3575G>C (p.Trp1192Ser) | |
21 | g.46411835G>T | CA410556625 | PCNT | n.107G>T c.5795G>T (p.Trp1932Leu) c.*5005G>T (n.*5005G>T) c.5762G>T (p.Trp1921Leu) n.6031G>T c.5408G>T (p.Trp1803Leu) c.5873G>T (p.Trp1958Leu) c.5843G>T (p.Trp1948Leu) c.5441G>T (p.Trp1814Leu) c.4679G>T (p.Trp1560Leu) c.3575G>T (p.Trp1192Leu) | |
21 | g.46411836G>A | CA410556638 | PCNT | n.108G>A c.5796G>A (p.Trp1932Ter) c.*5006G>A (n.*5006G>A) c.5763G>A (p.Trp1921Ter) n.6032G>A c.5409G>A (p.Trp1803Ter) c.5874G>A (p.Trp1958Ter) c.5844G>A (p.Trp1948Ter) c.5442G>A (p.Trp1814Ter) c.4680G>A (p.Trp1560Ter) c.3576G>A (p.Trp1192Ter) | gnomAD v4 |
21 | g.46411836G>C | CA410556635 | PCNT | n.108G>C c.5796G>C (p.Trp1932Cys) c.*5006G>C (n.*5006G>C) c.5763G>C (p.Trp1921Cys) n.6032G>C c.5409G>C (p.Trp1803Cys) c.5874G>C (p.Trp1958Cys) c.5844G>C (p.Trp1948Cys) c.5442G>C (p.Trp1814Cys) c.4680G>C (p.Trp1560Cys) c.3576G>C (p.Trp1192Cys) | |
21 | g.46411836G>T | CA410556639 | PCNT | n.108G>T c.5796G>T (p.Trp1932Cys) c.*5006G>T (n.*5006G>T) c.5763G>T (p.Trp1921Cys) n.6032G>T c.5409G>T (p.Trp1803Cys) c.5874G>T (p.Trp1958Cys) c.5844G>T (p.Trp1948Cys) c.5442G>T (p.Trp1814Cys) c.4680G>T (p.Trp1560Cys) c.3576G>T (p.Trp1192Cys) | gnomAD v4 |
21 | g.46411837C>A | CA410556640 | PCNT | n.109C>A c.5797C>A (p.Leu1933Ile) c.*5007C>A (n.*5007C>A) c.5764C>A (p.Leu1922Ile) n.6033C>A c.5410C>A (p.Leu1804Ile) c.5875C>A (p.Leu1959Ile) c.5845C>A (p.Leu1949Ile) c.5443C>A (p.Leu1815Ile) c.4681C>A (p.Leu1561Ile) c.3577C>A (p.Leu1193Ile) | |
21 | g.46411837C= | CA2392665084 | PCNT | n.109C= c.5797C= (p.Leu1933=) c.*5007C= (n.*5007C=) c.5764C= (p.Leu1922=) n.6033C= c.5410C= (p.Leu1804=) c.5875C= (p.Leu1959=) c.5845C= (p.Leu1949=) c.5443C= (p.Leu1815=) c.4681C= (p.Leu1561=) c.3577C= (p.Leu1193=) | |
21 | g.46411837C>G | CA10080085 | PCNT | n.109C>G c.5797C>G (p.Leu1933Val) c.*5007C>G (n.*5007C>G) c.5764C>G (p.Leu1922Val) n.6033C>G c.5410C>G (p.Leu1804Val) c.5875C>G (p.Leu1959Val) c.5845C>G (p.Leu1949Val) c.5443C>G (p.Leu1815Val) c.4681C>G (p.Leu1561Val) c.3577C>G (p.Leu1193Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411837C>T | CA410556642 | PCNT | n.109C>T c.5797C>T (p.Leu1933Phe) c.*5007C>T (n.*5007C>T) c.5764C>T (p.Leu1922Phe) n.6033C>T c.5410C>T (p.Leu1804Phe) c.5875C>T (p.Leu1959Phe) c.5845C>T (p.Leu1949Phe) c.5443C>T (p.Leu1815Phe) c.4681C>T (p.Leu1561Phe) c.3577C>T (p.Leu1193Phe) | gnomAD v4 |
21 | g.46411838T>A | CA410556647 | PCNT | n.110T>A c.5798T>A (p.Leu1933His) c.*5008T>A (n.*5008T>A) c.5765T>A (p.Leu1922His) n.6034T>A c.5411T>A (p.Leu1804His) c.5876T>A (p.Leu1959His) c.5846T>A (p.Leu1949His) c.5444T>A (p.Leu1815His) c.4682T>A (p.Leu1561His) c.3578T>A (p.Leu1193His) | |
21 | g.46411838T>C | CA410556650 | PCNT | n.110T>C c.5798T>C (p.Leu1933Pro) c.*5008T>C (n.*5008T>C) c.5765T>C (p.Leu1922Pro) n.6034T>C c.5411T>C (p.Leu1804Pro) c.5876T>C (p.Leu1959Pro) c.5846T>C (p.Leu1949Pro) c.5444T>C (p.Leu1815Pro) c.4682T>C (p.Leu1561Pro) c.3578T>C (p.Leu1193Pro) | |
21 | g.46411838T>G | CA410556656 | PCNT | n.110T>G c.5798T>G (p.Leu1933Arg) c.*5008T>G (n.*5008T>G) c.5765T>G (p.Leu1922Arg) n.6034T>G c.5411T>G (p.Leu1804Arg) c.5876T>G (p.Leu1959Arg) c.5846T>G (p.Leu1949Arg) c.5444T>G (p.Leu1815Arg) c.4682T>G (p.Leu1561Arg) c.3578T>G (p.Leu1193Arg) | |
21 | g.46411839C>A | CA513174035 | PCNT | n.111C>A c.5799C>A (p.Leu1933=) c.*5009C>A (n.*5009C>A) c.5766C>A (p.Leu1922=) n.6035C>A c.5412C>A (p.Leu1804=) c.5877C>A (p.Leu1959=) c.5847C>A (p.Leu1949=) c.5445C>A (p.Leu1815=) c.4683C>A (p.Leu1561=) c.3579C>A (p.Leu1193=) | |
21 | g.46411839C>G | CA513174036 | PCNT | n.111C>G c.5799C>G (p.Leu1933=) c.*5009C>G (n.*5009C>G) c.5766C>G (p.Leu1922=) n.6035C>G c.5412C>G (p.Leu1804=) c.5877C>G (p.Leu1959=) c.5847C>G (p.Leu1949=) c.5445C>G (p.Leu1815=) c.4683C>G (p.Leu1561=) c.3579C>G (p.Leu1193=) | |
21 | g.46411839C>T | CA513174038 | PCNT | n.111C>T c.5799C>T (p.Leu1933=) c.*5009C>T (n.*5009C>T) c.5766C>T (p.Leu1922=) n.6035C>T c.5412C>T (p.Leu1804=) c.5877C>T (p.Leu1959=) c.5847C>T (p.Leu1949=) c.5445C>T (p.Leu1815=) c.4683C>T (p.Leu1561=) c.3579C>T (p.Leu1193=) | gnomAD v4 |
21 | g.46411840C>A | CA513174040 | PCNT | n.112C>A c.5800C>A (p.Arg1934=) c.*5010C>A (n.*5010C>A) c.5767C>A (p.Arg1923=) n.6036C>A c.5413C>A (p.Arg1805=) c.5878C>A (p.Arg1960=) c.5848C>A (p.Arg1950=) c.5446C>A (p.Arg1816=) c.4684C>A (p.Arg1562=) c.3580C>A (p.Arg1194=) | gnomAD v4 |
21 | g.46411840C= | CA2392665085 | PCNT | n.112C= c.5800C= (p.Arg1934=) c.*5010C= (n.*5010C=) c.5767C= (p.Arg1923=) n.6036C= c.5413C= (p.Arg1805=) c.5878C= (p.Arg1960=) c.5848C= (p.Arg1950=) c.5446C= (p.Arg1816=) c.4684C= (p.Arg1562=) c.3580C= (p.Arg1194=) | |
21 | g.46411840C>G | CA410556670 | PCNT | n.112C>G c.5800C>G (p.Arg1934Gly) c.*5010C>G (n.*5010C>G) c.5767C>G (p.Arg1923Gly) n.6036C>G c.5413C>G (p.Arg1805Gly) c.5878C>G (p.Arg1960Gly) c.5848C>G (p.Arg1950Gly) c.5446C>G (p.Arg1816Gly) c.4684C>G (p.Arg1562Gly) c.3580C>G (p.Arg1194Gly) | |
21 | g.46411840C>T | CA250510 | PCNT | n.112C>T c.5800C>T (p.Arg1934Ter) c.*5010C>T (n.*5010C>T) c.5767C>T (p.Arg1923Ter) n.6036C>T c.5413C>T (p.Arg1805Ter) c.5878C>T (p.Arg1960Ter) c.5848C>T (p.Arg1950Ter) c.5446C>T (p.Arg1816Ter) c.4684C>T (p.Arg1562Ter) c.3580C>T (p.Arg1194Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411841G>A | CA10080086 | PCNT | n.113G>A c.5801G>A (p.Arg1934Gln) c.*5011G>A (n.*5011G>A) c.5768G>A (p.Arg1923Gln) n.6037G>A c.5414G>A (p.Arg1805Gln) c.5879G>A (p.Arg1960Gln) c.5849G>A (p.Arg1950Gln) c.5447G>A (p.Arg1816Gln) c.4685G>A (p.Arg1562Gln) c.3581G>A (p.Arg1194Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411841G>C | CA410556676 | PCNT | n.113G>C c.5801G>C (p.Arg1934Pro) c.*5011G>C (n.*5011G>C) c.5768G>C (p.Arg1923Pro) n.6037G>C c.5414G>C (p.Arg1805Pro) c.5879G>C (p.Arg1960Pro) c.5849G>C (p.Arg1950Pro) c.5447G>C (p.Arg1816Pro) c.4685G>C (p.Arg1562Pro) c.3581G>C (p.Arg1194Pro) | |
21 | g.46411841G= | CA2392665086 | PCNT | n.113G= c.5801G= (p.Arg1934=) c.*5011G= (n.*5011G=) c.5768G= (p.Arg1923=) n.6037G= c.5414G= (p.Arg1805=) c.5879G= (p.Arg1960=) c.5849G= (p.Arg1950=) c.5447G= (p.Arg1816=) c.4685G= (p.Arg1562=) c.3581G= (p.Arg1194=) | |
21 | g.46411841G>T | CA321998169 | PCNT | n.113G>T c.5801G>T (p.Arg1934Leu) c.*5011G>T (n.*5011G>T) c.5768G>T (p.Arg1923Leu) n.6037G>T c.5414G>T (p.Arg1805Leu) c.5879G>T (p.Arg1960Leu) c.5849G>T (p.Arg1950Leu) c.5447G>T (p.Arg1816Leu) c.4685G>T (p.Arg1562Leu) c.3581G>T (p.Arg1194Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411842A>C | CA513174041 | PCNT | n.114A>C c.5802A>C (p.Arg1934=) c.*5012A>C (n.*5012A>C) c.5769A>C (p.Arg1923=) n.6038A>C c.5415A>C (p.Arg1805=) c.5880A>C (p.Arg1960=) c.5850A>C (p.Arg1950=) c.5448A>C (p.Arg1816=) c.4686A>C (p.Arg1562=) c.3582A>C (p.Arg1194=) | |
21 | g.46411842A>G | CA513174042 | PCNT | n.114A>G c.5802A>G (p.Arg1934=) c.*5012A>G (n.*5012A>G) c.5769A>G (p.Arg1923=) n.6038A>G c.5415A>G (p.Arg1805=) c.5880A>G (p.Arg1960=) c.5850A>G (p.Arg1950=) c.5448A>G (p.Arg1816=) c.4686A>G (p.Arg1562=) c.3582A>G (p.Arg1194=) | |
21 | g.46411842A>T | CA513174044 | PCNT | n.114A>T c.5802A>T (p.Arg1934=) c.*5012A>T (n.*5012A>T) c.5769A>T (p.Arg1923=) n.6038A>T c.5415A>T (p.Arg1805=) c.5880A>T (p.Arg1960=) c.5850A>T (p.Arg1950=) c.5448A>T (p.Arg1816=) c.4686A>T (p.Arg1562=) c.3582A>T (p.Arg1194=) |