| 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.46411740C>A | CA513174308 | PCNT | n.12C>A c.5700C>A (p.Ala1900=) c.*4910C>A (n.*4910C>A) c.5667C>A (p.Ala1889=) n.5936C>A c.5313C>A (p.Ala1771=) c.5778C>A (p.Ala1926=) c.5748C>A (p.Ala1916=) c.5346C>A (p.Ala1782=) c.4584C>A (p.Ala1528=) c.3480C>A (p.Ala1160=) | |
| 21 | g.46411740C= | CA2392665032 | PCNT | n.12C= c.5700C= (p.Ala1900=) c.*4910C= (n.*4910C=) c.5667C= (p.Ala1889=) n.5936C= c.5313C= (p.Ala1771=) c.5778C= (p.Ala1926=) c.5748C= (p.Ala1916=) c.5346C= (p.Ala1782=) c.4584C= (p.Ala1528=) c.3480C= (p.Ala1160=) | |
| 21 | g.46411740C>G | CA513174309 | PCNT | n.12C>G c.5700C>G (p.Ala1900=) c.*4910C>G (n.*4910C>G) c.5667C>G (p.Ala1889=) n.5936C>G c.5313C>G (p.Ala1771=) c.5778C>G (p.Ala1926=) c.5748C>G (p.Ala1916=) c.5346C>G (p.Ala1782=) c.4584C>G (p.Ala1528=) c.3480C>G (p.Ala1160=) | |
| 21 | g.46411740C>T | CA10080054 | PCNT | n.12C>T c.5700C>T (p.Ala1900=) c.*4910C>T (n.*4910C>T) c.5667C>T (p.Ala1889=) n.5936C>T c.5313C>T (p.Ala1771=) c.5778C>T (p.Ala1926=) c.5748C>T (p.Ala1916=) c.5346C>T (p.Ala1782=) c.4584C>T (p.Ala1528=) c.3480C>T (p.Ala1160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411741G>A | CA321998110 | PCNT | n.13G>A c.5701G>A (p.Glu1901Lys) c.*4911G>A (n.*4911G>A) c.5668G>A (p.Glu1890Lys) n.5937G>A c.5314G>A (p.Glu1772Lys) c.5779G>A (p.Glu1927Lys) c.5749G>A (p.Glu1917Lys) c.5347G>A (p.Glu1783Lys) c.4585G>A (p.Glu1529Lys) c.3481G>A (p.Glu1161Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411741G>C | CA10080055 | PCNT | n.13G>C c.5701G>C (p.Glu1901Gln) c.*4911G>C (n.*4911G>C) c.5668G>C (p.Glu1890Gln) n.5937G>C c.5314G>C (p.Glu1772Gln) c.5779G>C (p.Glu1927Gln) c.5749G>C (p.Glu1917Gln) c.5347G>C (p.Glu1783Gln) c.4585G>C (p.Glu1529Gln) c.3481G>C (p.Glu1161Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411741G= | CA2392665033 | PCNT | n.13G= c.5701G= (p.Glu1901=) c.*4911G= (n.*4911G=) c.5668G= (p.Glu1890=) n.5937G= c.5314G= (p.Glu1772=) c.5779G= (p.Glu1927=) c.5749G= (p.Glu1917=) c.5347G= (p.Glu1783=) c.4585G= (p.Glu1529=) c.3481G= (p.Glu1161=) | |
| 21 | g.46411741G>T | CA410555814 | PCNT | n.13G>T c.5701G>T (p.Glu1901Ter) c.*4911G>T (n.*4911G>T) c.5668G>T (p.Glu1890Ter) n.5937G>T c.5314G>T (p.Glu1772Ter) c.5779G>T (p.Glu1927Ter) c.5749G>T (p.Glu1917Ter) c.5347G>T (p.Glu1783Ter) c.4585G>T (p.Glu1529Ter) c.3481G>T (p.Glu1161Ter) | 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.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) |