Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.46411644G>A | CA513173949 | PCNT | c.5604G>A (p.Gln1868=) c.*4814G>A (n.*4814G>A) c.5571G>A (p.Gln1857=) n.5840G>A c.5217G>A (p.Gln1739=) c.5682G>A (p.Gln1894=) c.5652G>A (p.Gln1884=) c.5250G>A (p.Gln1750=) c.4488G>A (p.Gln1496=) c.3384G>A (p.Gln1128=) | |
21 | g.46411644G>C | CA410554760 | PCNT | c.5604G>C (p.Gln1868His) c.*4814G>C (n.*4814G>C) c.5571G>C (p.Gln1857His) n.5840G>C c.5217G>C (p.Gln1739His) c.5682G>C (p.Gln1894His) c.5652G>C (p.Gln1884His) c.5250G>C (p.Gln1750His) c.4488G>C (p.Gln1496His) c.3384G>C (p.Gln1128His) | |
21 | g.46411644G>T | CA410554761 | PCNT | c.5604G>T (p.Gln1868His) c.*4814G>T (n.*4814G>T) c.5571G>T (p.Gln1857His) n.5840G>T c.5217G>T (p.Gln1739His) c.5682G>T (p.Gln1894His) c.5652G>T (p.Gln1884His) c.5250G>T (p.Gln1750His) c.4488G>T (p.Gln1496His) c.3384G>T (p.Gln1128His) | |
21 | g.46411645G>A | CA410554762 | PCNT | c.5605G>A (p.Glu1869Lys) c.*4815G>A (n.*4815G>A) c.5572G>A (p.Glu1858Lys) n.5841G>A c.5218G>A (p.Glu1740Lys) c.5683G>A (p.Glu1895Lys) c.5653G>A (p.Glu1885Lys) c.5251G>A (p.Glu1751Lys) c.4489G>A (p.Glu1497Lys) c.3385G>A (p.Glu1129Lys) | |
21 | g.46411645G>C | CA410554767 | PCNT | c.5605G>C (p.Glu1869Gln) c.*4815G>C (n.*4815G>C) c.5572G>C (p.Glu1858Gln) n.5841G>C c.5218G>C (p.Glu1740Gln) c.5683G>C (p.Glu1895Gln) c.5653G>C (p.Glu1885Gln) c.5251G>C (p.Glu1751Gln) c.4489G>C (p.Glu1497Gln) c.3385G>C (p.Glu1129Gln) | |
21 | g.46411645G>T | CA410554763 | PCNT | c.5605G>T (p.Glu1869Ter) c.*4815G>T (n.*4815G>T) c.5572G>T (p.Glu1858Ter) n.5841G>T c.5218G>T (p.Glu1740Ter) c.5683G>T (p.Glu1895Ter) c.5653G>T (p.Glu1885Ter) c.5251G>T (p.Glu1751Ter) c.4489G>T (p.Glu1497Ter) c.3385G>T (p.Glu1129Ter) | |
21 | g.46411646A= | CA2392664981 | PCNT | c.5606A= (p.Glu1869=) c.*4816A= (n.*4816A=) c.5573A= (p.Glu1858=) n.5842A= c.5219A= (p.Glu1740=) c.5684A= (p.Glu1895=) c.5654A= (p.Glu1885=) c.5252A= (p.Glu1751=) c.4490A= (p.Glu1497=) c.3386A= (p.Glu1129=) | |
21 | g.46411646A>C | CA410554769 | PCNT | c.5606A>C (p.Glu1869Ala) c.*4816A>C (n.*4816A>C) c.5573A>C (p.Glu1858Ala) n.5842A>C c.5219A>C (p.Glu1740Ala) c.5684A>C (p.Glu1895Ala) c.5654A>C (p.Glu1885Ala) c.5252A>C (p.Glu1751Ala) c.4490A>C (p.Glu1497Ala) c.3386A>C (p.Glu1129Ala) | |
21 | g.46411646A>G | CA410554770 | PCNT | c.5606A>G (p.Glu1869Gly) c.*4816A>G (n.*4816A>G) c.5573A>G (p.Glu1858Gly) n.5842A>G c.5219A>G (p.Glu1740Gly) c.5684A>G (p.Glu1895Gly) c.5654A>G (p.Glu1885Gly) c.5252A>G (p.Glu1751Gly) c.4490A>G (p.Glu1497Gly) c.3386A>G (p.Glu1129Gly) | |
21 | g.46411646A>T | CA10080029 | PCNT | c.5606A>T (p.Glu1869Val) c.*4816A>T (n.*4816A>T) c.5573A>T (p.Glu1858Val) n.5842A>T c.5219A>T (p.Glu1740Val) c.5684A>T (p.Glu1895Val) c.5654A>T (p.Glu1885Val) c.5252A>T (p.Glu1751Val) c.4490A>T (p.Glu1497Val) c.3386A>T (p.Glu1129Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411647G>A | CA513173954 | PCNT | c.5607G>A (p.Glu1869=) c.*4817G>A (n.*4817G>A) c.5574G>A (p.Glu1858=) n.5843G>A c.5220G>A (p.Glu1740=) c.5685G>A (p.Glu1895=) c.5655G>A (p.Glu1885=) c.5253G>A (p.Glu1751=) c.4491G>A (p.Glu1497=) c.3387G>A (p.Glu1129=) | |
21 | g.46411647G>C | CA410554774 | PCNT | c.5607G>C (p.Glu1869Asp) c.*4817G>C (n.*4817G>C) c.5574G>C (p.Glu1858Asp) n.5843G>C c.5220G>C (p.Glu1740Asp) c.5685G>C (p.Glu1895Asp) c.5655G>C (p.Glu1885Asp) c.5253G>C (p.Glu1751Asp) c.4491G>C (p.Glu1497Asp) c.3387G>C (p.Glu1129Asp) | |
21 | g.46411647G>T | CA410554781 | PCNT | c.5607G>T (p.Glu1869Asp) c.*4817G>T (n.*4817G>T) c.5574G>T (p.Glu1858Asp) n.5843G>T c.5220G>T (p.Glu1740Asp) c.5685G>T (p.Glu1895Asp) c.5655G>T (p.Glu1885Asp) c.5253G>T (p.Glu1751Asp) c.4491G>T (p.Glu1497Asp) c.3387G>T (p.Glu1129Asp) | COSMIC |
21 | g.46411648T>A | CA410554787 | PCNT | c.5608T>A (p.Phe1870Ile) c.*4818T>A (n.*4818T>A) c.5575T>A (p.Phe1859Ile) n.5844T>A c.5221T>A (p.Phe1741Ile) c.5686T>A (p.Phe1896Ile) c.5656T>A (p.Phe1886Ile) c.5254T>A (p.Phe1752Ile) c.4492T>A (p.Phe1498Ile) c.3388T>A (p.Phe1130Ile) | |
21 | g.46411648T>C | CA410554807 | PCNT | c.5608T>C (p.Phe1870Leu) c.*4818T>C (n.*4818T>C) c.5575T>C (p.Phe1859Leu) n.5844T>C c.5221T>C (p.Phe1741Leu) c.5686T>C (p.Phe1896Leu) c.5656T>C (p.Phe1886Leu) c.5254T>C (p.Phe1752Leu) c.4492T>C (p.Phe1498Leu) c.3388T>C (p.Phe1130Leu) | COSMIC |
21 | g.46411648T>G | CA410554809 | PCNT | c.5608T>G (p.Phe1870Val) c.*4818T>G (n.*4818T>G) c.5575T>G (p.Phe1859Val) n.5844T>G c.5221T>G (p.Phe1741Val) c.5686T>G (p.Phe1896Val) c.5656T>G (p.Phe1886Val) c.5254T>G (p.Phe1752Val) c.4492T>G (p.Phe1498Val) c.3388T>G (p.Phe1130Val) | |
21 | g.46411649T>A | CA410554815 | PCNT | c.5609T>A (p.Phe1870Tyr) c.*4819T>A (n.*4819T>A) c.5576T>A (p.Phe1859Tyr) n.5845T>A c.5222T>A (p.Phe1741Tyr) c.5687T>A (p.Phe1896Tyr) c.5657T>A (p.Phe1886Tyr) c.5255T>A (p.Phe1752Tyr) c.4493T>A (p.Phe1498Tyr) c.3389T>A (p.Phe1130Tyr) | |
21 | g.46411649T>C | CA410554822 | PCNT | c.5609T>C (p.Phe1870Ser) c.*4819T>C (n.*4819T>C) c.5576T>C (p.Phe1859Ser) n.5845T>C c.5222T>C (p.Phe1741Ser) c.5687T>C (p.Phe1896Ser) c.5657T>C (p.Phe1886Ser) c.5255T>C (p.Phe1752Ser) c.4493T>C (p.Phe1498Ser) c.3389T>C (p.Phe1130Ser) | |
21 | g.46411649T>G | CA410554824 | PCNT | c.5609T>G (p.Phe1870Cys) c.*4819T>G (n.*4819T>G) c.5576T>G (p.Phe1859Cys) n.5845T>G c.5222T>G (p.Phe1741Cys) c.5687T>G (p.Phe1896Cys) c.5657T>G (p.Phe1886Cys) c.5255T>G (p.Phe1752Cys) c.4493T>G (p.Phe1498Cys) c.3389T>G (p.Phe1130Cys) | |
21 | g.46411650C>A | CA410554828 | PCNT | c.5610C>A (p.Phe1870Leu) c.*4820C>A (n.*4820C>A) c.5577C>A (p.Phe1859Leu) n.5846C>A c.5223C>A (p.Phe1741Leu) c.5688C>A (p.Phe1896Leu) c.5658C>A (p.Phe1886Leu) c.5256C>A (p.Phe1752Leu) c.4494C>A (p.Phe1498Leu) c.3390C>A (p.Phe1130Leu) | |
21 | g.46411650C= | CA2392664982 | PCNT | c.5610C= (p.Phe1870=) c.*4820C= (n.*4820C=) c.5577C= (p.Phe1859=) n.5846C= c.5223C= (p.Phe1741=) c.5688C= (p.Phe1896=) c.5658C= (p.Phe1886=) c.5256C= (p.Phe1752=) c.4494C= (p.Phe1498=) c.3390C= (p.Phe1130=) | |
21 | g.46411650C>G | CA410554827 | PCNT | c.5610C>G (p.Phe1870Leu) c.*4820C>G (n.*4820C>G) c.5577C>G (p.Phe1859Leu) n.5846C>G c.5223C>G (p.Phe1741Leu) c.5688C>G (p.Phe1896Leu) c.5658C>G (p.Phe1886Leu) c.5256C>G (p.Phe1752Leu) c.4494C>G (p.Phe1498Leu) c.3390C>G (p.Phe1130Leu) | gnomAD v4 |
21 | g.46411650C>T | CA10080030 | PCNT | c.5610C>T (p.Phe1870=) c.*4820C>T (n.*4820C>T) c.5577C>T (p.Phe1859=) n.5846C>T c.5223C>T (p.Phe1741=) c.5688C>T (p.Phe1896=) c.5658C>T (p.Phe1886=) c.5256C>T (p.Phe1752=) c.4494C>T (p.Phe1498=) c.3390C>T (p.Phe1130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.46411651G>A | CA410554829 | PCNT | c.5611G>A (p.Glu1871Lys) c.*4821G>A (n.*4821G>A) c.5578G>A (p.Glu1860Lys) n.5847G>A c.5224G>A (p.Glu1742Lys) c.5689G>A (p.Glu1897Lys) c.5659G>A (p.Glu1887Lys) c.5257G>A (p.Glu1753Lys) c.4495G>A (p.Glu1499Lys) c.3391G>A (p.Glu1131Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411651G>C | CA410554831 | PCNT | c.5611G>C (p.Glu1871Gln) c.*4821G>C (n.*4821G>C) c.5578G>C (p.Glu1860Gln) n.5847G>C c.5224G>C (p.Glu1742Gln) c.5689G>C (p.Glu1897Gln) c.5659G>C (p.Glu1887Gln) c.5257G>C (p.Glu1753Gln) c.4495G>C (p.Glu1499Gln) c.3391G>C (p.Glu1131Gln) | |
21 | g.46411651G= | CA2392664983 | PCNT | c.5611G= (p.Glu1871=) c.*4821G= (n.*4821G=) c.5578G= (p.Glu1860=) n.5847G= c.5224G= (p.Glu1742=) c.5689G= (p.Glu1897=) c.5659G= (p.Glu1887=) c.5257G= (p.Glu1753=) c.4495G= (p.Glu1499=) c.3391G= (p.Glu1131=) | |
21 | g.46411651G>T | CA251085 | PCNT | c.5611G>T (p.Glu1871Ter) c.*4821G>T (n.*4821G>T) c.5578G>T (p.Glu1860Ter) n.5847G>T c.5224G>T (p.Glu1742Ter) c.5689G>T (p.Glu1897Ter) c.5659G>T (p.Glu1887Ter) c.5257G>T (p.Glu1753Ter) c.4495G>T (p.Glu1499Ter) c.3391G>T (p.Glu1131Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411652A>C | CA410554850 | PCNT | c.5612A>C (p.Glu1871Ala) c.*4822A>C (n.*4822A>C) c.5579A>C (p.Glu1860Ala) n.5848A>C c.5225A>C (p.Glu1742Ala) c.5690A>C (p.Glu1897Ala) c.5660A>C (p.Glu1887Ala) c.5258A>C (p.Glu1753Ala) c.4496A>C (p.Glu1499Ala) c.3392A>C (p.Glu1131Ala) | |
21 | g.46411652A>G | CA410554853 | PCNT | c.5612A>G (p.Glu1871Gly) c.*4822A>G (n.*4822A>G) c.5579A>G (p.Glu1860Gly) n.5848A>G c.5225A>G (p.Glu1742Gly) c.5690A>G (p.Glu1897Gly) c.5660A>G (p.Glu1887Gly) c.5258A>G (p.Glu1753Gly) c.4496A>G (p.Glu1499Gly) c.3392A>G (p.Glu1131Gly) | |
21 | g.46411652A>T | CA410554855 | PCNT | c.5612A>T (p.Glu1871Val) c.*4822A>T (n.*4822A>T) c.5579A>T (p.Glu1860Val) n.5848A>T c.5225A>T (p.Glu1742Val) c.5690A>T (p.Glu1897Val) c.5660A>T (p.Glu1887Val) c.5258A>T (p.Glu1753Val) c.4496A>T (p.Glu1499Val) c.3392A>T (p.Glu1131Val) | |
21 | g.46411653A>C | CA410554858 | PCNT | c.5613A>C (p.Glu1871Asp) c.*4823A>C (n.*4823A>C) c.5580A>C (p.Glu1860Asp) n.5849A>C c.5226A>C (p.Glu1742Asp) c.5691A>C (p.Glu1897Asp) c.5661A>C (p.Glu1887Asp) c.5259A>C (p.Glu1753Asp) c.4497A>C (p.Glu1499Asp) c.3393A>C (p.Glu1131Asp) | |
21 | g.46411653A>G | CA513173957 | PCNT | c.5613A>G (p.Glu1871=) c.*4823A>G (n.*4823A>G) c.5580A>G (p.Glu1860=) n.5849A>G c.5226A>G (p.Glu1742=) c.5691A>G (p.Glu1897=) c.5661A>G (p.Glu1887=) c.5259A>G (p.Glu1753=) c.4497A>G (p.Glu1499=) c.3393A>G (p.Glu1131=) | |
21 | g.46411653A>T | CA410554862 | PCNT | c.5613A>T (p.Glu1871Asp) c.*4823A>T (n.*4823A>T) c.5580A>T (p.Glu1860Asp) n.5849A>T c.5226A>T (p.Glu1742Asp) c.5691A>T (p.Glu1897Asp) c.5661A>T (p.Glu1887Asp) c.5259A>T (p.Glu1753Asp) c.4497A>T (p.Glu1499Asp) c.3393A>T (p.Glu1131Asp) | |
21 | g.46411654G>A | CA10080031 | PCNT | c.5614G>A (p.Ala1872Thr) c.*4824G>A (n.*4824G>A) c.5581G>A (p.Ala1861Thr) n.5850G>A c.5227G>A (p.Ala1743Thr) c.5692G>A (p.Ala1898Thr) c.5662G>A (p.Ala1888Thr) c.5260G>A (p.Ala1754Thr) c.4498G>A (p.Ala1500Thr) c.3394G>A (p.Ala1132Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411654G>C | CA410554864 | PCNT | c.5614G>C (p.Ala1872Pro) c.*4824G>C (n.*4824G>C) c.5581G>C (p.Ala1861Pro) n.5850G>C c.5227G>C (p.Ala1743Pro) c.5692G>C (p.Ala1898Pro) c.5662G>C (p.Ala1888Pro) c.5260G>C (p.Ala1754Pro) c.4498G>C (p.Ala1500Pro) c.3394G>C (p.Ala1132Pro) | |
21 | g.46411654G= | CA2392664984 | PCNT | c.5614G= (p.Ala1872=) c.*4824G= (n.*4824G=) c.5581G= (p.Ala1861=) n.5850G= c.5227G= (p.Ala1743=) c.5692G= (p.Ala1898=) c.5662G= (p.Ala1888=) c.5260G= (p.Ala1754=) c.4498G= (p.Ala1500=) c.3394G= (p.Ala1132=) | |
21 | g.46411654G>T | CA410554866 | PCNT | c.5614G>T (p.Ala1872Ser) c.*4824G>T (n.*4824G>T) c.5581G>T (p.Ala1861Ser) n.5850G>T c.5227G>T (p.Ala1743Ser) c.5692G>T (p.Ala1898Ser) c.5662G>T (p.Ala1888Ser) c.5260G>T (p.Ala1754Ser) c.4498G>T (p.Ala1500Ser) c.3394G>T (p.Ala1132Ser) | gnomAD v4 |
21 | g.46411655C>A | CA410554867 | PCNT | c.5615C>A (p.Ala1872Glu) c.*4825C>A (n.*4825C>A) c.5582C>A (p.Ala1861Glu) n.5851C>A c.5228C>A (p.Ala1743Glu) c.5693C>A (p.Ala1898Glu) c.5663C>A (p.Ala1888Glu) c.5261C>A (p.Ala1754Glu) c.4499C>A (p.Ala1500Glu) c.3395C>A (p.Ala1132Glu) | |
21 | g.46411655C= | CA2392664985 | PCNT | c.5615C= (p.Ala1872=) c.*4825C= (n.*4825C=) c.5582C= (p.Ala1861=) n.5851C= c.5228C= (p.Ala1743=) c.5693C= (p.Ala1898=) c.5663C= (p.Ala1888=) c.5261C= (p.Ala1754=) c.4499C= (p.Ala1500=) c.3395C= (p.Ala1132=) | |
21 | g.46411655C>G | CA410554869 | PCNT | c.5615C>G (p.Ala1872Gly) c.*4825C>G (n.*4825C>G) c.5582C>G (p.Ala1861Gly) n.5851C>G c.5228C>G (p.Ala1743Gly) c.5693C>G (p.Ala1898Gly) c.5663C>G (p.Ala1888Gly) c.5261C>G (p.Ala1754Gly) c.4499C>G (p.Ala1500Gly) c.3395C>G (p.Ala1132Gly) | |
21 | g.46411655C>T | CA10080032 | PCNT | c.5615C>T (p.Ala1872Val) c.*4825C>T (n.*4825C>T) c.5582C>T (p.Ala1861Val) n.5851C>T c.5228C>T (p.Ala1743Val) c.5693C>T (p.Ala1898Val) c.5663C>T (p.Ala1888Val) c.5261C>T (p.Ala1754Val) c.4499C>T (p.Ala1500Val) c.3395C>T (p.Ala1132Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411656G>A | CA10080033 | PCNT | c.5616G>A (p.Ala1872=) c.*4826G>A (n.*4826G>A) c.5583G>A (p.Ala1861=) n.5852G>A c.5229G>A (p.Ala1743=) c.5694G>A (p.Ala1898=) c.5664G>A (p.Ala1888=) c.5262G>A (p.Ala1754=) c.4500G>A (p.Ala1500=) c.3396G>A (p.Ala1132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411656G>C | CA513173966 | PCNT | c.5616G>C (p.Ala1872=) c.*4826G>C (n.*4826G>C) c.5583G>C (p.Ala1861=) n.5852G>C c.5229G>C (p.Ala1743=) c.5694G>C (p.Ala1898=) c.5664G>C (p.Ala1888=) c.5262G>C (p.Ala1754=) c.4500G>C (p.Ala1500=) c.3396G>C (p.Ala1132=) | |
21 | g.46411656G= | CA2392664986 | PCNT | c.5616G= (p.Ala1872=) c.*4826G= (n.*4826G=) c.5583G= (p.Ala1861=) n.5852G= c.5229G= (p.Ala1743=) c.5694G= (p.Ala1898=) c.5664G= (p.Ala1888=) c.5262G= (p.Ala1754=) c.4500G= (p.Ala1500=) c.3396G= (p.Ala1132=) | |
21 | g.46411656G>T | CA513173967 | PCNT | c.5616G>T (p.Ala1872=) c.*4826G>T (n.*4826G>T) c.5583G>T (p.Ala1861=) n.5852G>T c.5229G>T (p.Ala1743=) c.5694G>T (p.Ala1898=) c.5664G>T (p.Ala1888=) c.5262G>T (p.Ala1754=) c.4500G>T (p.Ala1500=) c.3396G>T (p.Ala1132=) | |
21 | g.46411657G>A | CA410554880 | PCNT | c.5617G>A (p.Ala1873Thr) c.*4827G>A (n.*4827G>A) c.5584G>A (p.Ala1862Thr) n.5853G>A c.5230G>A (p.Ala1744Thr) c.5695G>A (p.Ala1899Thr) c.5665G>A (p.Ala1889Thr) c.5263G>A (p.Ala1755Thr) c.4501G>A (p.Ala1501Thr) c.3397G>A (p.Ala1133Thr) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411657G>C | CA410554882 | PCNT | c.5617G>C (p.Ala1873Pro) c.*4827G>C (n.*4827G>C) c.5584G>C (p.Ala1862Pro) n.5853G>C c.5230G>C (p.Ala1744Pro) c.5695G>C (p.Ala1899Pro) c.5665G>C (p.Ala1889Pro) c.5263G>C (p.Ala1755Pro) c.4501G>C (p.Ala1501Pro) c.3397G>C (p.Ala1133Pro) | |
21 | g.46411657G= | CA2392664987 | PCNT | c.5617G= (p.Ala1873=) c.*4827G= (n.*4827G=) c.5584G= (p.Ala1862=) n.5853G= c.5230G= (p.Ala1744=) c.5695G= (p.Ala1899=) c.5665G= (p.Ala1889=) c.5263G= (p.Ala1755=) c.4501G= (p.Ala1501=) c.3397G= (p.Ala1133=) | |
21 | g.46411657G>T | CA410554884 | PCNT | c.5617G>T (p.Ala1873Ser) c.*4827G>T (n.*4827G>T) c.5584G>T (p.Ala1862Ser) n.5853G>T c.5230G>T (p.Ala1744Ser) c.5695G>T (p.Ala1899Ser) c.5665G>T (p.Ala1889Ser) c.5263G>T (p.Ala1755Ser) c.4501G>T (p.Ala1501Ser) c.3397G>T (p.Ala1133Ser) | |
21 | g.46411658C>A | CA410554887 | PCNT | c.5618C>A (p.Ala1873Asp) c.*4828C>A (n.*4828C>A) c.5585C>A (p.Ala1862Asp) n.5854C>A c.5231C>A (p.Ala1744Asp) c.5696C>A (p.Ala1899Asp) c.5666C>A (p.Ala1889Asp) c.5264C>A (p.Ala1755Asp) c.4502C>A (p.Ala1501Asp) c.3398C>A (p.Ala1133Asp) | |
21 | g.46411658C>G | CA410554889 | PCNT | c.5618C>G (p.Ala1873Gly) c.*4828C>G (n.*4828C>G) c.5585C>G (p.Ala1862Gly) n.5854C>G c.5231C>G (p.Ala1744Gly) c.5696C>G (p.Ala1899Gly) c.5666C>G (p.Ala1889Gly) c.5264C>G (p.Ala1755Gly) c.4502C>G (p.Ala1501Gly) c.3398C>G (p.Ala1133Gly) | |
21 | g.46411658C>T | CA410554892 | PCNT | c.5618C>T (p.Ala1873Val) c.*4828C>T (n.*4828C>T) c.5585C>T (p.Ala1862Val) n.5854C>T c.5231C>T (p.Ala1744Val) c.5696C>T (p.Ala1899Val) c.5666C>T (p.Ala1889Val) c.5264C>T (p.Ala1755Val) c.4502C>T (p.Ala1501Val) c.3398C>T (p.Ala1133Val) | gnomAD v4 |
21 | g.46411659C>A | CA513173980 | PCNT | c.5619C>A (p.Ala1873=) c.*4829C>A (n.*4829C>A) c.5586C>A (p.Ala1862=) n.5855C>A c.5232C>A (p.Ala1744=) c.5697C>A (p.Ala1899=) c.5667C>A (p.Ala1889=) c.5265C>A (p.Ala1755=) c.4503C>A (p.Ala1501=) c.3399C>A (p.Ala1133=) | ClinVar gnomAD v4 |
21 | g.46411659C= | CA2392664988 | PCNT | c.5619C= (p.Ala1873=) c.*4829C= (n.*4829C=) c.5586C= (p.Ala1862=) n.5855C= c.5232C= (p.Ala1744=) c.5697C= (p.Ala1899=) c.5667C= (p.Ala1889=) c.5265C= (p.Ala1755=) c.4503C= (p.Ala1501=) c.3399C= (p.Ala1133=) | |
21 | g.46411659C>G | CA513173978 | PCNT | c.5619C>G (p.Ala1873=) c.*4829C>G (n.*4829C>G) c.5586C>G (p.Ala1862=) n.5855C>G c.5232C>G (p.Ala1744=) c.5697C>G (p.Ala1899=) c.5667C>G (p.Ala1889=) c.5265C>G (p.Ala1755=) c.4503C>G (p.Ala1501=) c.3399C>G (p.Ala1133=) | |
21 | g.46411659C>T | CA513173979 | PCNT | c.5619C>T (p.Ala1873=) c.*4829C>T (n.*4829C>T) c.5586C>T (p.Ala1862=) n.5855C>T c.5232C>T (p.Ala1744=) c.5697C>T (p.Ala1899=) c.5667C>T (p.Ala1889=) c.5265C>T (p.Ala1755=) c.4503C>T (p.Ala1501=) c.3399C>T (p.Ala1133=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411660C>A | CA410554895 | PCNT | c.5620C>A (p.Leu1874Met) c.*4830C>A (n.*4830C>A) c.5587C>A (p.Leu1863Met) n.5856C>A c.5233C>A (p.Leu1745Met) c.5698C>A (p.Leu1900Met) c.5668C>A (p.Leu1890Met) c.5266C>A (p.Leu1756Met) c.4504C>A (p.Leu1502Met) c.3400C>A (p.Leu1134Met) | |
21 | g.46411660C= | CA2392664989 | PCNT | c.5620C= (p.Leu1874=) c.*4830C= (n.*4830C=) c.5587C= (p.Leu1863=) n.5856C= c.5233C= (p.Leu1745=) c.5698C= (p.Leu1900=) c.5668C= (p.Leu1890=) c.5266C= (p.Leu1756=) c.4504C= (p.Leu1502=) c.3400C= (p.Leu1134=) | |
21 | g.46411660C>G | CA410554901 | PCNT | c.5620C>G (p.Leu1874Val) c.*4830C>G (n.*4830C>G) c.5587C>G (p.Leu1863Val) n.5856C>G c.5233C>G (p.Leu1745Val) c.5698C>G (p.Leu1900Val) c.5668C>G (p.Leu1890Val) c.5266C>G (p.Leu1756Val) c.4504C>G (p.Leu1502Val) c.3400C>G (p.Leu1134Val) | |
21 | g.46411660C>T | CA513173981 | PCNT | c.5620C>T (p.Leu1874=) c.*4830C>T (n.*4830C>T) c.5587C>T (p.Leu1863=) n.5856C>T c.5233C>T (p.Leu1745=) c.5698C>T (p.Leu1900=) c.5668C>T (p.Leu1890=) c.5266C>T (p.Leu1756=) c.4504C>T (p.Leu1502=) c.3400C>T (p.Leu1134=) | ClinVar dbSNP |
21 | g.46411661T>A | CA410554904 | PCNT | c.5621T>A (p.Leu1874Gln) c.*4831T>A (n.*4831T>A) c.5588T>A (p.Leu1863Gln) n.5857T>A c.5234T>A (p.Leu1745Gln) c.5699T>A (p.Leu1900Gln) c.5669T>A (p.Leu1890Gln) c.5267T>A (p.Leu1756Gln) c.4505T>A (p.Leu1502Gln) c.3401T>A (p.Leu1134Gln) | |
21 | g.46411661T>C | CA410554908 | PCNT | c.5621T>C (p.Leu1874Pro) c.*4831T>C (n.*4831T>C) c.5588T>C (p.Leu1863Pro) n.5857T>C c.5234T>C (p.Leu1745Pro) c.5699T>C (p.Leu1900Pro) c.5669T>C (p.Leu1890Pro) c.5267T>C (p.Leu1756Pro) c.4505T>C (p.Leu1502Pro) c.3401T>C (p.Leu1134Pro) | gnomAD v4 |
21 | g.46411661T>G | CA410554912 | PCNT | c.5621T>G (p.Leu1874Arg) c.*4831T>G (n.*4831T>G) c.5588T>G (p.Leu1863Arg) n.5857T>G c.5234T>G (p.Leu1745Arg) c.5699T>G (p.Leu1900Arg) c.5669T>G (p.Leu1890Arg) c.5267T>G (p.Leu1756Arg) c.4505T>G (p.Leu1502Arg) c.3401T>G (p.Leu1134Arg) | |
21 | g.46411662G>A | CA513173983 | PCNT | c.5622G>A (p.Leu1874=) c.*4832G>A (n.*4832G>A) c.5589G>A (p.Leu1863=) n.5858G>A c.5235G>A (p.Leu1745=) c.5700G>A (p.Leu1900=) c.5670G>A (p.Leu1890=) c.5268G>A (p.Leu1756=) c.4506G>A (p.Leu1502=) c.3402G>A (p.Leu1134=) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411662G>C | CA513173984 | PCNT | c.5622G>C (p.Leu1874=) c.*4832G>C (n.*4832G>C) c.5589G>C (p.Leu1863=) n.5858G>C c.5235G>C (p.Leu1745=) c.5700G>C (p.Leu1900=) c.5670G>C (p.Leu1890=) c.5268G>C (p.Leu1756=) c.4506G>C (p.Leu1502=) c.3402G>C (p.Leu1134=) | |
21 | g.46411662G= | CA2392664990 | PCNT | c.5622G= (p.Leu1874=) c.*4832G= (n.*4832G=) c.5589G= (p.Leu1863=) n.5858G= c.5235G= (p.Leu1745=) c.5700G= (p.Leu1900=) c.5670G= (p.Leu1890=) c.5268G= (p.Leu1756=) c.4506G= (p.Leu1502=) c.3402G= (p.Leu1134=) | |
21 | g.46411662G>T | CA513173986 | PCNT | c.5622G>T (p.Leu1874=) c.*4832G>T (n.*4832G>T) c.5589G>T (p.Leu1863=) n.5858G>T c.5235G>T (p.Leu1745=) c.5700G>T (p.Leu1900=) c.5670G>T (p.Leu1890=) c.5268G>T (p.Leu1756=) c.4506G>T (p.Leu1502=) c.3402G>T (p.Leu1134=) | |
21 | g.46411663A>C | CA410554922 | PCNT | c.5623A>C (p.Lys1875Gln) c.*4833A>C (n.*4833A>C) c.5590A>C (p.Lys1864Gln) n.5859A>C c.5236A>C (p.Lys1746Gln) c.5701A>C (p.Lys1901Gln) c.5671A>C (p.Lys1891Gln) c.5269A>C (p.Lys1757Gln) c.4507A>C (p.Lys1503Gln) c.3403A>C (p.Lys1135Gln) | |
21 | g.46411663A>G | CA410554925 | PCNT | c.5623A>G (p.Lys1875Glu) c.*4833A>G (n.*4833A>G) c.5590A>G (p.Lys1864Glu) n.5859A>G c.5236A>G (p.Lys1746Glu) c.5701A>G (p.Lys1901Glu) c.5671A>G (p.Lys1891Glu) c.5269A>G (p.Lys1757Glu) c.4507A>G (p.Lys1503Glu) c.3403A>G (p.Lys1135Glu) | |
21 | g.46411663A>T | CA410554917 | PCNT | c.5623A>T (p.Lys1875Ter) c.*4833A>T (n.*4833A>T) c.5590A>T (p.Lys1864Ter) n.5859A>T c.5236A>T (p.Lys1746Ter) c.5701A>T (p.Lys1901Ter) c.5671A>T (p.Lys1891Ter) c.5269A>T (p.Lys1757Ter) c.4507A>T (p.Lys1503Ter) c.3403A>T (p.Lys1135Ter) | |
21 | g.46411664A>C | CA410554933 | PCNT | c.5624A>C (p.Lys1875Thr) c.*4834A>C (n.*4834A>C) c.5591A>C (p.Lys1864Thr) n.5860A>C c.5237A>C (p.Lys1746Thr) c.5702A>C (p.Lys1901Thr) c.5672A>C (p.Lys1891Thr) c.5270A>C (p.Lys1757Thr) c.4508A>C (p.Lys1503Thr) c.3404A>C (p.Lys1135Thr) | |
21 | g.46411664A>G | CA410554935 | PCNT | c.5624A>G (p.Lys1875Arg) c.*4834A>G (n.*4834A>G) c.5591A>G (p.Lys1864Arg) n.5860A>G c.5237A>G (p.Lys1746Arg) c.5702A>G (p.Lys1901Arg) c.5672A>G (p.Lys1891Arg) c.5270A>G (p.Lys1757Arg) c.4508A>G (p.Lys1503Arg) c.3404A>G (p.Lys1135Arg) | gnomAD v4 |
21 | g.46411664A>T | CA410554937 | PCNT | c.5624A>T (p.Lys1875Ile) c.*4834A>T (n.*4834A>T) c.5591A>T (p.Lys1864Ile) n.5860A>T c.5237A>T (p.Lys1746Ile) c.5702A>T (p.Lys1901Ile) c.5672A>T (p.Lys1891Ile) c.5270A>T (p.Lys1757Ile) c.4508A>T (p.Lys1503Ile) c.3404A>T (p.Lys1135Ile) | |
21 | g.46411665A= | CA2392664991 | PCNT | c.5625A= (p.Lys1875=) c.*4835A= (n.*4835A=) c.5592A= (p.Lys1864=) n.5861A= c.5238A= (p.Lys1746=) c.5703A= (p.Lys1901=) c.5673A= (p.Lys1891=) c.5271A= (p.Lys1757=) c.4509A= (p.Lys1503=) c.3405A= (p.Lys1135=) | |
21 | g.46411665A>C | CA410554938 | PCNT | c.5625A>C (p.Lys1875Asn) c.*4835A>C (n.*4835A>C) c.5592A>C (p.Lys1864Asn) n.5861A>C c.5238A>C (p.Lys1746Asn) c.5703A>C (p.Lys1901Asn) c.5673A>C (p.Lys1891Asn) c.5271A>C (p.Lys1757Asn) c.4509A>C (p.Lys1503Asn) c.3405A>C (p.Lys1135Asn) | |
21 | g.46411665A>G | CA10080034 | PCNT | c.5625A>G (p.Lys1875=) c.*4835A>G (n.*4835A>G) c.5592A>G (p.Lys1864=) n.5861A>G c.5238A>G (p.Lys1746=) c.5703A>G (p.Lys1901=) c.5673A>G (p.Lys1891=) c.5271A>G (p.Lys1757=) c.4509A>G (p.Lys1503=) c.3405A>G (p.Lys1135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411665A>T | CA410554939 | PCNT | c.5625A>T (p.Lys1875Asn) c.*4835A>T (n.*4835A>T) c.5592A>T (p.Lys1864Asn) n.5861A>T c.5238A>T (p.Lys1746Asn) c.5703A>T (p.Lys1901Asn) c.5673A>T (p.Lys1891Asn) c.5271A>T (p.Lys1757Asn) c.4509A>T (p.Lys1503Asn) c.3405A>T (p.Lys1135Asn) | |
21 | g.46411666G>A | CA410554952 | PCNT | c.5626G>A (p.Ala1876Thr) c.*4836G>A (n.*4836G>A) c.5593G>A (p.Ala1865Thr) n.5862G>A c.5239G>A (p.Ala1747Thr) c.5704G>A (p.Ala1902Thr) c.5674G>A (p.Ala1892Thr) c.5272G>A (p.Ala1758Thr) c.4510G>A (p.Ala1504Thr) c.3406G>A (p.Ala1136Thr) | ClinVar dbSNP |
21 | g.46411666G>C | CA410554942 | PCNT | c.5626G>C (p.Ala1876Pro) c.*4836G>C (n.*4836G>C) c.5593G>C (p.Ala1865Pro) n.5862G>C c.5239G>C (p.Ala1747Pro) c.5704G>C (p.Ala1902Pro) c.5674G>C (p.Ala1892Pro) c.5272G>C (p.Ala1758Pro) c.4510G>C (p.Ala1504Pro) c.3406G>C (p.Ala1136Pro) | |
21 | g.46411666G= | CA2392664992 | PCNT | c.5626G= (p.Ala1876=) c.*4836G= (n.*4836G=) c.5593G= (p.Ala1865=) n.5862G= c.5239G= (p.Ala1747=) c.5704G= (p.Ala1902=) c.5674G= (p.Ala1892=) c.5272G= (p.Ala1758=) c.4510G= (p.Ala1504=) c.3406G= (p.Ala1136=) | |
21 | g.46411666G>T | CA410554950 | PCNT | c.5626G>T (p.Ala1876Ser) c.*4836G>T (n.*4836G>T) c.5593G>T (p.Ala1865Ser) n.5862G>T c.5239G>T (p.Ala1747Ser) c.5704G>T (p.Ala1902Ser) c.5674G>T (p.Ala1892Ser) c.5272G>T (p.Ala1758Ser) c.4510G>T (p.Ala1504Ser) c.3406G>T (p.Ala1136Ser) | |
21 | g.46411667C>A | CA410554955 | PCNT | c.5627C>A (p.Ala1876Glu) c.*4837C>A (n.*4837C>A) c.5594C>A (p.Ala1865Glu) n.5863C>A c.5240C>A (p.Ala1747Glu) c.5705C>A (p.Ala1902Glu) c.5675C>A (p.Ala1892Glu) c.5273C>A (p.Ala1758Glu) c.4511C>A (p.Ala1504Glu) c.3407C>A (p.Ala1136Glu) | |
21 | g.46411667C= | CA2392664993 | PCNT | c.5627C= (p.Ala1876=) c.*4837C= (n.*4837C=) c.5594C= (p.Ala1865=) n.5863C= c.5240C= (p.Ala1747=) c.5705C= (p.Ala1902=) c.5675C= (p.Ala1892=) c.5273C= (p.Ala1758=) c.4511C= (p.Ala1504=) c.3407C= (p.Ala1136=) | |
21 | g.46411667C>G | CA321998070 | PCNT | c.5627C>G (p.Ala1876Gly) c.*4837C>G (n.*4837C>G) c.5594C>G (p.Ala1865Gly) n.5863C>G c.5240C>G (p.Ala1747Gly) c.5705C>G (p.Ala1902Gly) c.5675C>G (p.Ala1892Gly) c.5273C>G (p.Ala1758Gly) c.4511C>G (p.Ala1504Gly) c.3407C>G (p.Ala1136Gly) | dbSNP |
21 | g.46411667C>T | CA410554960 | PCNT | c.5627C>T (p.Ala1876Val) c.*4837C>T (n.*4837C>T) c.5594C>T (p.Ala1865Val) n.5863C>T c.5240C>T (p.Ala1747Val) c.5705C>T (p.Ala1902Val) c.5675C>T (p.Ala1892Val) c.5273C>T (p.Ala1758Val) c.4511C>T (p.Ala1504Val) c.3407C>T (p.Ala1136Val) | gnomAD v4 |
21 | g.46411668A>C | CA513174003 | PCNT | c.5628A>C (p.Ala1876=) c.*4838A>C (n.*4838A>C) c.5595A>C (p.Ala1865=) n.5864A>C c.5241A>C (p.Ala1747=) c.5706A>C (p.Ala1902=) c.5676A>C (p.Ala1892=) c.5274A>C (p.Ala1758=) c.4512A>C (p.Ala1504=) c.3408A>C (p.Ala1136=) | |
21 | g.46411668A>G | CA513174005 | PCNT | c.5628A>G (p.Ala1876=) c.*4838A>G (n.*4838A>G) c.5595A>G (p.Ala1865=) n.5864A>G c.5241A>G (p.Ala1747=) c.5706A>G (p.Ala1902=) c.5676A>G (p.Ala1892=) c.5274A>G (p.Ala1758=) c.4512A>G (p.Ala1504=) c.3408A>G (p.Ala1136=) | |
21 | g.46411668A>T | CA513174004 | PCNT | c.5628A>T (p.Ala1876=) c.*4838A>T (n.*4838A>T) c.5595A>T (p.Ala1865=) n.5864A>T c.5241A>T (p.Ala1747=) c.5706A>T (p.Ala1902=) c.5676A>T (p.Ala1892=) c.5274A>T (p.Ala1758=) c.4512A>T (p.Ala1504=) c.3408A>T (p.Ala1136=) | |
21 | g.46411668_46411671del | CA2655023787 | PCNT | c.5628_5631del (p.Glu1878ArgfsTer8) c.*4838_*4841del (n.*4838_*4841del) c.5595_5598del (p.Glu1867ArgfsTer8) n.5864_5867del c.5241_5244del (p.Glu1749ArgfsTer8) c.5706_5709del (p.Glu1904ArgfsTer8) c.5676_5679del (p.Glu1894ArgfsTer8) c.5274_5277del (p.Glu1760ArgfsTer8) c.4512_4515del (p.Glu1506ArgfsTer8) c.3408_3411del (p.Glu1138ArgfsTer8) | gnomAD v4 |
21 | g.46411669A>C | CA410554964 | PCNT | c.5629A>C (p.Lys1877Gln) c.*4839A>C (n.*4839A>C) c.5596A>C (p.Lys1866Gln) n.5865A>C c.5242A>C (p.Lys1748Gln) c.5707A>C (p.Lys1903Gln) c.5677A>C (p.Lys1893Gln) c.5275A>C (p.Lys1759Gln) c.4513A>C (p.Lys1505Gln) c.3409A>C (p.Lys1137Gln) | |
21 | g.46411669A>G | CA410554971 | PCNT | c.5629A>G (p.Lys1877Glu) c.*4839A>G (n.*4839A>G) c.5596A>G (p.Lys1866Glu) n.5865A>G c.5242A>G (p.Lys1748Glu) c.5707A>G (p.Lys1903Glu) c.5677A>G (p.Lys1893Glu) c.5275A>G (p.Lys1759Glu) c.4513A>G (p.Lys1505Glu) c.3409A>G (p.Lys1137Glu) | |
21 | g.46411669A>T | CA410554975 | PCNT | c.5629A>T (p.Lys1877Ter) c.*4839A>T (n.*4839A>T) c.5596A>T (p.Lys1866Ter) n.5865A>T c.5242A>T (p.Lys1748Ter) c.5707A>T (p.Lys1903Ter) c.5677A>T (p.Lys1893Ter) c.5275A>T (p.Lys1759Ter) c.4513A>T (p.Lys1505Ter) c.3409A>T (p.Lys1137Ter) | |
21 | g.46411670A>C | CA410554978 | PCNT | c.5630A>C (p.Lys1877Thr) c.*4840A>C (n.*4840A>C) c.5597A>C (p.Lys1866Thr) n.5866A>C c.5243A>C (p.Lys1748Thr) c.5708A>C (p.Lys1903Thr) c.5678A>C (p.Lys1893Thr) c.5276A>C (p.Lys1759Thr) c.4514A>C (p.Lys1505Thr) c.3410A>C (p.Lys1137Thr) | |
21 | g.46411670A>G | CA410554989 | PCNT | c.5630A>G (p.Lys1877Arg) c.*4840A>G (n.*4840A>G) c.5597A>G (p.Lys1866Arg) n.5866A>G c.5243A>G (p.Lys1748Arg) c.5708A>G (p.Lys1903Arg) c.5678A>G (p.Lys1893Arg) c.5276A>G (p.Lys1759Arg) c.4514A>G (p.Lys1505Arg) c.3410A>G (p.Lys1137Arg) | |
21 | g.46411670A>T | CA410554976 | PCNT | c.5630A>T (p.Lys1877Met) c.*4840A>T (n.*4840A>T) c.5597A>T (p.Lys1866Met) n.5866A>T c.5243A>T (p.Lys1748Met) c.5708A>T (p.Lys1903Met) c.5678A>T (p.Lys1893Met) c.5276A>T (p.Lys1759Met) c.4514A>T (p.Lys1505Met) c.3410A>T (p.Lys1137Met) | |
21 | g.46411671G>A | CA513174010 | PCNT | c.5631G>A (p.Lys1877=) c.*4841G>A (n.*4841G>A) c.5598G>A (p.Lys1866=) n.5867G>A c.5244G>A (p.Lys1748=) c.5709G>A (p.Lys1903=) c.5679G>A (p.Lys1893=) c.5277G>A (p.Lys1759=) c.4515G>A (p.Lys1505=) c.3411G>A (p.Lys1137=) | |
21 | g.46411671G>C | CA410554999 | PCNT | c.5631G>C (p.Lys1877Asn) c.*4841G>C (n.*4841G>C) c.5598G>C (p.Lys1866Asn) n.5867G>C c.5244G>C (p.Lys1748Asn) c.5709G>C (p.Lys1903Asn) c.5679G>C (p.Lys1893Asn) c.5277G>C (p.Lys1759Asn) c.4515G>C (p.Lys1505Asn) c.3411G>C (p.Lys1137Asn) | |
21 | g.46411671G>T | CA410554997 | PCNT | c.5631G>T (p.Lys1877Asn) c.*4841G>T (n.*4841G>T) c.5598G>T (p.Lys1866Asn) n.5867G>T c.5244G>T (p.Lys1748Asn) c.5709G>T (p.Lys1903Asn) c.5679G>T (p.Lys1893Asn) c.5277G>T (p.Lys1759Asn) c.4515G>T (p.Lys1505Asn) c.3411G>T (p.Lys1137Asn) | |
21 | g.46411672G>A | CA410555024 | PCNT | c.5632G>A (p.Glu1878Lys) c.*4842G>A (n.*4842G>A) c.5599G>A (p.Glu1867Lys) n.5868G>A c.5245G>A (p.Glu1749Lys) c.5710G>A (p.Glu1904Lys) c.5680G>A (p.Glu1894Lys) c.5278G>A (p.Glu1760Lys) c.4516G>A (p.Glu1506Lys) c.3412G>A (p.Glu1138Lys) | gnomAD v4 |
21 | g.46411672G>C | CA410555010 | PCNT | c.5632G>C (p.Glu1878Gln) c.*4842G>C (n.*4842G>C) c.5599G>C (p.Glu1867Gln) n.5868G>C c.5245G>C (p.Glu1749Gln) c.5710G>C (p.Glu1904Gln) c.5680G>C (p.Glu1894Gln) c.5278G>C (p.Glu1760Gln) c.4516G>C (p.Glu1506Gln) c.3412G>C (p.Glu1138Gln) | |
21 | g.46411672G>T | CA410555012 | PCNT | c.5632G>T (p.Glu1878Ter) c.*4842G>T (n.*4842G>T) c.5599G>T (p.Glu1867Ter) n.5868G>T c.5245G>T (p.Glu1749Ter) c.5710G>T (p.Glu1904Ter) c.5680G>T (p.Glu1894Ter) c.5278G>T (p.Glu1760Ter) c.4516G>T (p.Glu1506Ter) c.3412G>T (p.Glu1138Ter) | |
21 | g.46411672_46411673insT | CA2655023788 | PCNT | c.5632_5633insT (p.Glu1878ValfsTer?) c.*4842_*4843insT (n.*4842_*4843insT) c.5599_5600insT (p.Glu1867ValfsTer?) n.5868_5869insT c.5245_5246insT (p.Glu1749ValfsTer?) c.5710_5711insT (p.Glu1904ValfsTer?) c.5680_5681insT (p.Glu1894ValfsTer?) c.5278_5279insT (p.Glu1760ValfsTer?) c.4516_4517insT (p.Glu1506ValfsTer?) c.3412_3413insT (p.Glu1138ValfsTer?) | gnomAD v4 |
21 | g.46411673A>C | CA410555031 | PCNT | c.5633A>C (p.Glu1878Ala) c.*4843A>C (n.*4843A>C) c.5600A>C (p.Glu1867Ala) n.5869A>C c.5246A>C (p.Glu1749Ala) c.5711A>C (p.Glu1904Ala) c.5681A>C (p.Glu1894Ala) c.5279A>C (p.Glu1760Ala) c.4517A>C (p.Glu1506Ala) c.3413A>C (p.Glu1138Ala) | |
21 | g.46411673A>G | CA410555035 | PCNT | c.5633A>G (p.Glu1878Gly) c.*4843A>G (n.*4843A>G) c.5600A>G (p.Glu1867Gly) n.5869A>G c.5246A>G (p.Glu1749Gly) c.5711A>G (p.Glu1904Gly) c.5681A>G (p.Glu1894Gly) c.5279A>G (p.Glu1760Gly) c.4517A>G (p.Glu1506Gly) c.3413A>G (p.Glu1138Gly) | |
21 | g.46411673A>T | CA410555040 | PCNT | c.5633A>T (p.Glu1878Val) c.*4843A>T (n.*4843A>T) c.5600A>T (p.Glu1867Val) n.5869A>T c.5246A>T (p.Glu1749Val) c.5711A>T (p.Glu1904Val) c.5681A>T (p.Glu1894Val) c.5279A>T (p.Glu1760Val) c.4517A>T (p.Glu1506Val) c.3413A>T (p.Glu1138Val) | |
21 | g.46411674A= | CA2392664994 | PCNT | c.5634A= (p.Glu1878=) c.*4844A= (n.*4844A=) c.5601A= (p.Glu1867=) n.5870A= c.5247A= (p.Glu1749=) c.5712A= (p.Glu1904=) c.5682A= (p.Glu1894=) c.5280A= (p.Glu1760=) c.4518A= (p.Glu1506=) c.3414A= (p.Glu1138=) | |
21 | g.46411674A>C | CA410555045 | PCNT | c.5634A>C (p.Glu1878Asp) c.*4844A>C (n.*4844A>C) c.5601A>C (p.Glu1867Asp) n.5870A>C c.5247A>C (p.Glu1749Asp) c.5712A>C (p.Glu1904Asp) c.5682A>C (p.Glu1894Asp) c.5280A>C (p.Glu1760Asp) c.4518A>C (p.Glu1506Asp) c.3414A>C (p.Glu1138Asp) | |
21 | g.46411674A>G | CA513174173 | PCNT | c.5634A>G (p.Glu1878=) c.*4844A>G (n.*4844A>G) c.5601A>G (p.Glu1867=) n.5870A>G c.5247A>G (p.Glu1749=) c.5712A>G (p.Glu1904=) c.5682A>G (p.Glu1894=) c.5280A>G (p.Glu1760=) c.4518A>G (p.Glu1506=) c.3414A>G (p.Glu1138=) | ClinVar dbSNP gnomAD v4 |
21 | g.46411674A>T | CA410555058 | PCNT | c.5634A>T (p.Glu1878Asp) c.*4844A>T (n.*4844A>T) c.5601A>T (p.Glu1867Asp) n.5870A>T c.5247A>T (p.Glu1749Asp) c.5712A>T (p.Glu1904Asp) c.5682A>T (p.Glu1894Asp) c.5280A>T (p.Glu1760Asp) c.4518A>T (p.Glu1506Asp) c.3414A>T (p.Glu1138Asp) | |
21 | g.46411675G>A | CA410555064 | PCNT | c.5635G>A (p.Ala1879Thr) c.*4845G>A (n.*4845G>A) c.5602G>A (p.Ala1868Thr) n.5871G>A c.5248G>A (p.Ala1750Thr) c.5713G>A (p.Ala1905Thr) c.5683G>A (p.Ala1895Thr) c.5281G>A (p.Ala1761Thr) c.4519G>A (p.Ala1507Thr) c.3415G>A (p.Ala1139Thr) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411675G>C | CA410555066 | PCNT | c.5635G>C (p.Ala1879Pro) c.*4845G>C (n.*4845G>C) c.5602G>C (p.Ala1868Pro) n.5871G>C c.5248G>C (p.Ala1750Pro) c.5713G>C (p.Ala1905Pro) c.5683G>C (p.Ala1895Pro) c.5281G>C (p.Ala1761Pro) c.4519G>C (p.Ala1507Pro) c.3415G>C (p.Ala1139Pro) | |
21 | g.46411675G= | CA2392664995 | PCNT | c.5635G= (p.Ala1879=) c.*4845G= (n.*4845G=) c.5602G= (p.Ala1868=) n.5871G= c.5248G= (p.Ala1750=) c.5713G= (p.Ala1905=) c.5683G= (p.Ala1895=) c.5281G= (p.Ala1761=) c.4519G= (p.Ala1507=) c.3415G= (p.Ala1139=) | |
21 | g.46411675G>T | CA410555067 | PCNT | c.5635G>T (p.Ala1879Ser) c.*4845G>T (n.*4845G>T) c.5602G>T (p.Ala1868Ser) n.5871G>T c.5248G>T (p.Ala1750Ser) c.5713G>T (p.Ala1905Ser) c.5683G>T (p.Ala1895Ser) c.5281G>T (p.Ala1761Ser) c.4519G>T (p.Ala1507Ser) c.3415G>T (p.Ala1139Ser) | |
21 | g.46411676C>A | CA410555071 | PCNT | c.5636C>A (p.Ala1879Glu) c.*4846C>A (n.*4846C>A) c.5603C>A (p.Ala1868Glu) n.5872C>A c.5249C>A (p.Ala1750Glu) c.5714C>A (p.Ala1905Glu) c.5684C>A (p.Ala1895Glu) c.5282C>A (p.Ala1761Glu) c.4520C>A (p.Ala1507Glu) c.3416C>A (p.Ala1139Glu) | |
21 | g.46411676C= | CA2392664996 | PCNT | c.5636C= (p.Ala1879=) c.*4846C= (n.*4846C=) c.5603C= (p.Ala1868=) n.5872C= c.5249C= (p.Ala1750=) c.5714C= (p.Ala1905=) c.5684C= (p.Ala1895=) c.5282C= (p.Ala1761=) c.4520C= (p.Ala1507=) c.3416C= (p.Ala1139=) | |
21 | g.46411676C>G | CA410555074 | PCNT | c.5636C>G (p.Ala1879Gly) c.*4846C>G (n.*4846C>G) c.5603C>G (p.Ala1868Gly) n.5872C>G c.5249C>G (p.Ala1750Gly) c.5714C>G (p.Ala1905Gly) c.5684C>G (p.Ala1895Gly) c.5282C>G (p.Ala1761Gly) c.4520C>G (p.Ala1507Gly) c.3416C>G (p.Ala1139Gly) | gnomAD v4 |
21 | g.46411676C>T | CA10080035 | PCNT | c.5636C>T (p.Ala1879Val) c.*4846C>T (n.*4846C>T) c.5603C>T (p.Ala1868Val) n.5872C>T c.5249C>T (p.Ala1750Val) c.5714C>T (p.Ala1905Val) c.5684C>T (p.Ala1895Val) c.5282C>T (p.Ala1761Val) c.4520C>T (p.Ala1507Val) c.3416C>T (p.Ala1139Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411679_46411681del | CA2655023789 | PCNT | c.5639_5641del (p.Thr1880del) c.*4849_*4851del (n.*4849_*4851del) c.5606_5608del (p.Thr1869del) n.5875_5877del c.5252_5254del (p.Thr1751del) c.5717_5719del (p.Thr1906del) c.5687_5689del (p.Thr1896del) c.5285_5287del (p.Thr1762del) c.4523_4525del (p.Thr1508del) c.3419_3421del (p.Thr1140del) | gnomAD v4 |
21 | g.46411677G>A | CA10080036 | PCNT | c.5637G>A (p.Ala1879=) c.*4847G>A (n.*4847G>A) c.5604G>A (p.Ala1868=) n.5873G>A c.5250G>A (p.Ala1750=) c.5715G>A (p.Ala1905=) c.5685G>A (p.Ala1895=) c.5283G>A (p.Ala1761=) c.4521G>A (p.Ala1507=) c.3417G>A (p.Ala1139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411677G>C | CA513174178 | PCNT | c.5637G>C (p.Ala1879=) c.*4847G>C (n.*4847G>C) c.5604G>C (p.Ala1868=) n.5873G>C c.5250G>C (p.Ala1750=) c.5715G>C (p.Ala1905=) c.5685G>C (p.Ala1895=) c.5283G>C (p.Ala1761=) c.4521G>C (p.Ala1507=) c.3417G>C (p.Ala1139=) | |
21 | g.46411677G= | CA2392664997 | PCNT | c.5637G= (p.Ala1879=) c.*4847G= (n.*4847G=) c.5604G= (p.Ala1868=) n.5873G= c.5250G= (p.Ala1750=) c.5715G= (p.Ala1905=) c.5685G= (p.Ala1895=) c.5283G= (p.Ala1761=) c.4521G= (p.Ala1507=) c.3417G= (p.Ala1139=) | |
21 | g.46411677G>T | CA321998075 | PCNT | c.5637G>T (p.Ala1879=) c.*4847G>T (n.*4847G>T) c.5604G>T (p.Ala1868=) n.5873G>T c.5250G>T (p.Ala1750=) c.5715G>T (p.Ala1905=) c.5685G>T (p.Ala1895=) c.5283G>T (p.Ala1761=) c.4521G>T (p.Ala1507=) c.3417G>T (p.Ala1139=) | dbSNP |
21 | g.46411678A>C | CA410555087 | PCNT | c.5638A>C (p.Thr1880Pro) c.*4848A>C (n.*4848A>C) c.5605A>C (p.Thr1869Pro) n.5874A>C c.5251A>C (p.Thr1751Pro) c.5716A>C (p.Thr1906Pro) c.5686A>C (p.Thr1896Pro) c.5284A>C (p.Thr1762Pro) c.4522A>C (p.Thr1508Pro) c.3418A>C (p.Thr1140Pro) | |
21 | g.46411678A>G | CA410555084 | PCNT | c.5638A>G (p.Thr1880Ala) c.*4848A>G (n.*4848A>G) c.5605A>G (p.Thr1869Ala) n.5874A>G c.5251A>G (p.Thr1751Ala) c.5716A>G (p.Thr1906Ala) c.5686A>G (p.Thr1896Ala) c.5284A>G (p.Thr1762Ala) c.4522A>G (p.Thr1508Ala) c.3418A>G (p.Thr1140Ala) | |
21 | g.46411678A>T | CA410555080 | PCNT | c.5638A>T (p.Thr1880Ser) c.*4848A>T (n.*4848A>T) c.5605A>T (p.Thr1869Ser) n.5874A>T c.5251A>T (p.Thr1751Ser) c.5716A>T (p.Thr1906Ser) c.5686A>T (p.Thr1896Ser) c.5284A>T (p.Thr1762Ser) c.4522A>T (p.Thr1508Ser) c.3418A>T (p.Thr1140Ser) | |
21 | g.46411679C>A | CA410555093 | PCNT | c.5639C>A (p.Thr1880Lys) c.*4849C>A (n.*4849C>A) c.5606C>A (p.Thr1869Lys) n.5875C>A c.5252C>A (p.Thr1751Lys) c.5717C>A (p.Thr1906Lys) c.5687C>A (p.Thr1896Lys) c.5285C>A (p.Thr1762Lys) c.4523C>A (p.Thr1508Lys) c.3419C>A (p.Thr1140Lys) | |
21 | g.46411679C= | CA2392664998 | PCNT | c.5639C= (p.Thr1880=) c.*4849C= (n.*4849C=) c.5606C= (p.Thr1869=) n.5875C= c.5252C= (p.Thr1751=) c.5717C= (p.Thr1906=) c.5687C= (p.Thr1896=) c.5285C= (p.Thr1762=) c.4523C= (p.Thr1508=) c.3419C= (p.Thr1140=) | |
21 | g.46411679C>G | CA410555097 | PCNT | c.5639C>G (p.Thr1880Arg) c.*4849C>G (n.*4849C>G) c.5606C>G (p.Thr1869Arg) n.5875C>G c.5252C>G (p.Thr1751Arg) c.5717C>G (p.Thr1906Arg) c.5687C>G (p.Thr1896Arg) c.5285C>G (p.Thr1762Arg) c.4523C>G (p.Thr1508Arg) c.3419C>G (p.Thr1140Arg) | |
21 | g.46411679C>T | CA10080037 | PCNT | c.5639C>T (p.Thr1880Met) c.*4849C>T (n.*4849C>T) c.5606C>T (p.Thr1869Met) n.5875C>T c.5252C>T (p.Thr1751Met) c.5717C>T (p.Thr1906Met) c.5687C>T (p.Thr1896Met) c.5285C>T (p.Thr1762Met) c.4523C>T (p.Thr1508Met) c.3419C>T (p.Thr1140Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411680G>A | CA10080038 | PCNT | c.5640G>A (p.Thr1880=) c.*4850G>A (n.*4850G>A) c.5607G>A (p.Thr1869=) n.5876G>A c.5253G>A (p.Thr1751=) c.5718G>A (p.Thr1906=) c.5688G>A (p.Thr1896=) c.5286G>A (p.Thr1762=) c.4524G>A (p.Thr1508=) c.3420G>A (p.Thr1140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411680G>C | CA513174187 | PCNT | c.5640G>C (p.Thr1880=) c.*4850G>C (n.*4850G>C) c.5607G>C (p.Thr1869=) n.5876G>C c.5253G>C (p.Thr1751=) c.5718G>C (p.Thr1906=) c.5688G>C (p.Thr1896=) c.5286G>C (p.Thr1762=) c.4524G>C (p.Thr1508=) c.3420G>C (p.Thr1140=) | |
21 | g.46411680G= | CA2392664999 | PCNT | c.5640G= (p.Thr1880=) c.*4850G= (n.*4850G=) c.5607G= (p.Thr1869=) n.5876G= c.5253G= (p.Thr1751=) c.5718G= (p.Thr1906=) c.5688G= (p.Thr1896=) c.5286G= (p.Thr1762=) c.4524G= (p.Thr1508=) c.3420G= (p.Thr1140=) | |
21 | g.46411680G>T | CA513174186 | PCNT | c.5640G>T (p.Thr1880=) c.*4850G>T (n.*4850G>T) c.5607G>T (p.Thr1869=) n.5876G>T c.5253G>T (p.Thr1751=) c.5718G>T (p.Thr1906=) c.5688G>T (p.Thr1896=) c.5286G>T (p.Thr1762=) c.4524G>T (p.Thr1508=) c.3420G>T (p.Thr1140=) | dbSNP |
21 | g.46411681A>C | CA410555108 | PCNT | c.5641A>C (p.Ile1881Leu) c.*4851A>C (n.*4851A>C) c.5608A>C (p.Ile1870Leu) n.5877A>C c.5254A>C (p.Ile1752Leu) c.5719A>C (p.Ile1907Leu) c.5689A>C (p.Ile1897Leu) c.5287A>C (p.Ile1763Leu) c.4525A>C (p.Ile1509Leu) c.3421A>C (p.Ile1141Leu) | |
21 | g.46411681A>G | CA410555120 | PCNT | c.5641A>G (p.Ile1881Val) c.*4851A>G (n.*4851A>G) c.5608A>G (p.Ile1870Val) n.5877A>G c.5254A>G (p.Ile1752Val) c.5719A>G (p.Ile1907Val) c.5689A>G (p.Ile1897Val) c.5287A>G (p.Ile1763Val) c.4525A>G (p.Ile1509Val) c.3421A>G (p.Ile1141Val) | |
21 | g.46411681A>T | CA410555124 | PCNT | c.5641A>T (p.Ile1881Phe) c.*4851A>T (n.*4851A>T) c.5608A>T (p.Ile1870Phe) n.5877A>T c.5254A>T (p.Ile1752Phe) c.5719A>T (p.Ile1907Phe) c.5689A>T (p.Ile1897Phe) c.5287A>T (p.Ile1763Phe) c.4525A>T (p.Ile1509Phe) c.3421A>T (p.Ile1141Phe) | |
21 | g.46411682T>A | CA410555129 | PCNT | c.5642T>A (p.Ile1881Asn) c.*4852T>A (n.*4852T>A) c.5609T>A (p.Ile1870Asn) n.5878T>A c.5255T>A (p.Ile1752Asn) c.5720T>A (p.Ile1907Asn) c.5690T>A (p.Ile1897Asn) c.5288T>A (p.Ile1763Asn) c.4526T>A (p.Ile1509Asn) c.3422T>A (p.Ile1141Asn) | |
21 | g.46411682T>C | CA410555133 | PCNT | c.5642T>C (p.Ile1881Thr) c.*4852T>C (n.*4852T>C) c.5609T>C (p.Ile1870Thr) n.5878T>C c.5255T>C (p.Ile1752Thr) c.5720T>C (p.Ile1907Thr) c.5690T>C (p.Ile1897Thr) c.5288T>C (p.Ile1763Thr) c.4526T>C (p.Ile1509Thr) c.3422T>C (p.Ile1141Thr) | gnomAD v4 |
21 | g.46411682T>G | CA410555136 | PCNT | c.5642T>G (p.Ile1881Ser) c.*4852T>G (n.*4852T>G) c.5609T>G (p.Ile1870Ser) n.5878T>G c.5255T>G (p.Ile1752Ser) c.5720T>G (p.Ile1907Ser) c.5690T>G (p.Ile1897Ser) c.5288T>G (p.Ile1763Ser) c.4526T>G (p.Ile1509Ser) c.3422T>G (p.Ile1141Ser) | |
21 | g.46411683T>A | CA513174192 | PCNT | c.5643T>A (p.Ile1881=) c.*4853T>A (n.*4853T>A) c.5610T>A (p.Ile1870=) n.5879T>A c.5256T>A (p.Ile1752=) c.5721T>A (p.Ile1907=) c.5691T>A (p.Ile1897=) c.5289T>A (p.Ile1763=) c.4527T>A (p.Ile1509=) c.3423T>A (p.Ile1141=) | |
21 | g.46411683T>C | CA513174193 | PCNT | c.5643T>C (p.Ile1881=) c.*4853T>C (n.*4853T>C) c.5610T>C (p.Ile1870=) n.5879T>C c.5256T>C (p.Ile1752=) c.5721T>C (p.Ile1907=) c.5691T>C (p.Ile1897=) c.5289T>C (p.Ile1763=) c.4527T>C (p.Ile1509=) c.3423T>C (p.Ile1141=) | |
21 | g.46411683T>G | CA410555150 | PCNT | c.5643T>G (p.Ile1881Met) c.*4853T>G (n.*4853T>G) c.5610T>G (p.Ile1870Met) n.5879T>G c.5256T>G (p.Ile1752Met) c.5721T>G (p.Ile1907Met) c.5691T>G (p.Ile1897Met) c.5289T>G (p.Ile1763Met) c.4527T>G (p.Ile1509Met) c.3423T>G (p.Ile1141Met) | |
21 | g.46411684G>A | CA410555155 | PCNT | c.5644G>A (p.Ala1882Thr) c.*4854G>A (n.*4854G>A) c.5611G>A (p.Ala1871Thr) n.5880G>A c.5257G>A (p.Ala1753Thr) c.5722G>A (p.Ala1908Thr) c.5692G>A (p.Ala1898Thr) c.5290G>A (p.Ala1764Thr) c.4528G>A (p.Ala1510Thr) c.3424G>A (p.Ala1142Thr) | gnomAD v4 |
21 | g.46411684G>C | CA410555161 | PCNT | c.5644G>C (p.Ala1882Pro) c.*4854G>C (n.*4854G>C) c.5611G>C (p.Ala1871Pro) n.5880G>C c.5257G>C (p.Ala1753Pro) c.5722G>C (p.Ala1908Pro) c.5692G>C (p.Ala1898Pro) c.5290G>C (p.Ala1764Pro) c.4528G>C (p.Ala1510Pro) c.3424G>C (p.Ala1142Pro) | |
21 | g.46411684G>T | CA410555162 | PCNT | c.5644G>T (p.Ala1882Ser) c.*4854G>T (n.*4854G>T) c.5611G>T (p.Ala1871Ser) n.5880G>T c.5257G>T (p.Ala1753Ser) c.5722G>T (p.Ala1908Ser) c.5692G>T (p.Ala1898Ser) c.5290G>T (p.Ala1764Ser) c.4528G>T (p.Ala1510Ser) c.3424G>T (p.Ala1142Ser) | |
21 | g.46411684_46411702delinsGCCGAGAGAAATTTAGAAA | CA2392665000 | PCNT | c.5644_5662delinsGCCGAGAGAAATTTAGAAA (p.Ala1882=) c.*4854_*4872delinsGCCGAGAGAAATTTAGAAA (n.*4854_*4872delinsGCCGAGAGAAATTTAGAAA) c.5611_5629delinsGCCGAGAGAAATTTAGAAA (p.Ala1871=) n.5880_5898delinsGCCGAGAGAAATTTAGAAA c.5257_5275delinsGCCGAGAGAAATTTAGAAA (p.Ala1753=) c.5722_5740delinsGCCGAGAGAAATTTAGAAA (p.Ala1908=) c.5692_5710delinsGCCGAGAGAAATTTAGAAA (p.Ala1898=) c.5290_5308delinsGCCGAGAGAAATTTAGAAA (p.Ala1764=) c.4528_4546delinsGCCGAGAGAAATTTAGAAA (p.Ala1510=) c.3424_3442delinsGCCGAGAGAAATTTAGAAA (p.Ala1142=) | |
21 | g.46411685C>A | CA410555168 | PCNT | c.5645C>A (p.Ala1882Asp) c.*4855C>A (n.*4855C>A) c.5612C>A (p.Ala1871Asp) n.5881C>A c.5258C>A (p.Ala1753Asp) c.5723C>A (p.Ala1908Asp) c.5693C>A (p.Ala1898Asp) c.5291C>A (p.Ala1764Asp) c.4529C>A (p.Ala1510Asp) c.3425C>A (p.Ala1142Asp) | |
21 | g.46411685C>G | CA410555167 | PCNT | c.5645C>G (p.Ala1882Gly) c.*4855C>G (n.*4855C>G) c.5612C>G (p.Ala1871Gly) n.5881C>G c.5258C>G (p.Ala1753Gly) c.5723C>G (p.Ala1908Gly) c.5693C>G (p.Ala1898Gly) c.5291C>G (p.Ala1764Gly) c.4529C>G (p.Ala1510Gly) c.3425C>G (p.Ala1142Gly) | |
21 | g.46411685C>T | CA410555166 | PCNT | c.5645C>T (p.Ala1882Val) c.*4855C>T (n.*4855C>T) c.5612C>T (p.Ala1871Val) n.5881C>T c.5258C>T (p.Ala1753Val) c.5723C>T (p.Ala1908Val) c.5693C>T (p.Ala1898Val) c.5291C>T (p.Ala1764Val) c.4529C>T (p.Ala1510Val) c.3425C>T (p.Ala1142Val) | |
21 | g.46411685_46411702del | CA638499598 | PCNT | c.5645_5662del (p.Ala1882_Ile1888delinsVal) c.*4855_*4872del (n.*4855_*4872del) c.5612_5629del (p.Ala1871_Ile1877delinsVal) n.5881_5898del c.5258_5275del (p.Ala1753_Ile1759delinsVal) c.5723_5740del (p.Ala1908_Ile1914delinsVal) c.5693_5710del (p.Ala1898_Ile1904delinsVal) c.5291_5308del (p.Ala1764_Ile1770delinsVal) c.4529_4546del (p.Ala1510_Ile1516delinsVal) c.3425_3442del (p.Ala1142_Ile1148delinsVal) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411686C>A | CA513174198 | PCNT | c.5646C>A (p.Ala1882=) c.*4856C>A (n.*4856C>A) c.5613C>A (p.Ala1871=) n.5882C>A c.5259C>A (p.Ala1753=) c.5724C>A (p.Ala1908=) c.5694C>A (p.Ala1898=) c.5292C>A (p.Ala1764=) c.4530C>A (p.Ala1510=) c.3426C>A (p.Ala1142=) | gnomAD v4 |
21 | g.46411686C= | CA2392665001 | PCNT | c.5646C= (p.Ala1882=) c.*4856C= (n.*4856C=) c.5613C= (p.Ala1871=) n.5882C= c.5259C= (p.Ala1753=) c.5724C= (p.Ala1908=) c.5694C= (p.Ala1898=) c.5292C= (p.Ala1764=) c.4530C= (p.Ala1510=) c.3426C= (p.Ala1142=) | |
21 | g.46411686C>G | CA513174196 | PCNT | c.5646C>G (p.Ala1882=) c.*4856C>G (n.*4856C>G) c.5613C>G (p.Ala1871=) n.5882C>G c.5259C>G (p.Ala1753=) c.5724C>G (p.Ala1908=) c.5694C>G (p.Ala1898=) c.5292C>G (p.Ala1764=) c.4530C>G (p.Ala1510=) c.3426C>G (p.Ala1142=) | |
21 | g.46411686C>T | CA10080039 | PCNT | c.5646C>T (p.Ala1882=) c.*4856C>T (n.*4856C>T) c.5613C>T (p.Ala1871=) n.5882C>T c.5259C>T (p.Ala1753=) c.5724C>T (p.Ala1908=) c.5694C>T (p.Ala1898=) c.5292C>T (p.Ala1764=) c.4530C>T (p.Ala1510=) c.3426C>T (p.Ala1142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411686_46411698delinsCGAGAGAAATTTA | CA2392665002 | PCNT | c.5646_5658delinsCGAGAGAAATTTA (p.Ala1882=) c.*4856_*4868delinsCGAGAGAAATTTA (n.*4856_*4868delinsCGAGAGAAATTTA) c.5613_5625delinsCGAGAGAAATTTA (p.Ala1871=) n.5882_5894delinsCGAGAGAAATTTA c.5259_5271delinsCGAGAGAAATTTA (p.Ala1753=) c.5724_5736delinsCGAGAGAAATTTA (p.Ala1908=) c.5694_5706delinsCGAGAGAAATTTA (p.Ala1898=) c.5292_5304delinsCGAGAGAAATTTA (p.Ala1764=) c.4530_4542delinsCGAGAGAAATTTA (p.Ala1510=) c.3426_3438delinsCGAGAGAAATTTA (p.Ala1142=) | |
21 | g.46411687G>A | CA10080040 | PCNT | c.5647G>A (p.Glu1883Lys) c.*4857G>A (n.*4857G>A) c.5614G>A (p.Glu1872Lys) n.5883G>A c.5260G>A (p.Glu1754Lys) c.5725G>A (p.Glu1909Lys) c.5695G>A (p.Glu1899Lys) c.5293G>A (p.Glu1765Lys) c.4531G>A (p.Glu1511Lys) c.3427G>A (p.Glu1143Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411687G>C | CA410555176 | PCNT | c.5647G>C (p.Glu1883Gln) c.*4857G>C (n.*4857G>C) c.5614G>C (p.Glu1872Gln) n.5883G>C c.5260G>C (p.Glu1754Gln) c.5725G>C (p.Glu1909Gln) c.5695G>C (p.Glu1899Gln) c.5293G>C (p.Glu1765Gln) c.4531G>C (p.Glu1511Gln) c.3427G>C (p.Glu1143Gln) | |
21 | g.46411687G= | CA2392665003 | PCNT | c.5647G= (p.Glu1883=) c.*4857G= (n.*4857G=) c.5614G= (p.Glu1872=) n.5883G= c.5260G= (p.Glu1754=) c.5725G= (p.Glu1909=) c.5695G= (p.Glu1899=) c.5293G= (p.Glu1765=) c.4531G= (p.Glu1511=) c.3427G= (p.Glu1143=) | |
21 | g.46411687G>T | CA410555179 | PCNT | c.5647G>T (p.Glu1883Ter) c.*4857G>T (n.*4857G>T) c.5614G>T (p.Glu1872Ter) n.5883G>T c.5260G>T (p.Glu1754Ter) c.5725G>T (p.Glu1909Ter) c.5695G>T (p.Glu1899Ter) c.5293G>T (p.Glu1765Ter) c.4531G>T (p.Glu1511Ter) c.3427G>T (p.Glu1143Ter) | |
21 | g.46411689_46411700del | CA638499599 | PCNT | c.5649_5660del (p.Arg1884_Glu1887del) c.*4859_*4870del (n.*4859_*4870del) c.5616_5627del (p.Arg1873_Glu1876del) n.5885_5896del c.5262_5273del (p.Arg1755_Glu1758del) c.5727_5738del (p.Arg1910_Glu1913del) c.5697_5708del (p.Arg1900_Glu1903del) c.5295_5306del (p.Arg1766_Glu1769del) c.4533_4544del (p.Arg1512_Glu1515del) c.3429_3440del (p.Arg1144_Glu1147del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411688A>C | CA410555187 | PCNT | c.5648A>C (p.Glu1883Ala) c.*4858A>C (n.*4858A>C) c.5615A>C (p.Glu1872Ala) n.5884A>C c.5261A>C (p.Glu1754Ala) c.5726A>C (p.Glu1909Ala) c.5696A>C (p.Glu1899Ala) c.5294A>C (p.Glu1765Ala) c.4532A>C (p.Glu1511Ala) c.3428A>C (p.Glu1143Ala) | |
21 | g.46411688A>G | CA410555192 | PCNT | c.5648A>G (p.Glu1883Gly) c.*4858A>G (n.*4858A>G) c.5615A>G (p.Glu1872Gly) n.5884A>G c.5261A>G (p.Glu1754Gly) c.5726A>G (p.Glu1909Gly) c.5696A>G (p.Glu1899Gly) c.5294A>G (p.Glu1765Gly) c.4532A>G (p.Glu1511Gly) c.3428A>G (p.Glu1143Gly) | gnomAD v4 |
21 | g.46411688A>T | CA410555193 | PCNT | c.5648A>T (p.Glu1883Val) c.*4858A>T (n.*4858A>T) c.5615A>T (p.Glu1872Val) n.5884A>T c.5261A>T (p.Glu1754Val) c.5726A>T (p.Glu1909Val) c.5696A>T (p.Glu1899Val) c.5294A>T (p.Glu1765Val) c.4532A>T (p.Glu1511Val) c.3428A>T (p.Glu1143Val) | |
21 | g.46411689G>A | CA513174201 | PCNT | c.5649G>A (p.Glu1883=) c.*4859G>A (n.*4859G>A) c.5616G>A (p.Glu1872=) n.5885G>A c.5262G>A (p.Glu1754=) c.5727G>A (p.Glu1909=) c.5697G>A (p.Glu1899=) c.5295G>A (p.Glu1765=) c.4533G>A (p.Glu1511=) c.3429G>A (p.Glu1143=) | |
21 | g.46411689G>C | CA410555194 | PCNT | c.5649G>C (p.Glu1883Asp) c.*4859G>C (n.*4859G>C) c.5616G>C (p.Glu1872Asp) n.5885G>C c.5262G>C (p.Glu1754Asp) c.5727G>C (p.Glu1909Asp) c.5697G>C (p.Glu1899Asp) c.5295G>C (p.Glu1765Asp) c.4533G>C (p.Glu1511Asp) c.3429G>C (p.Glu1143Asp) | |
21 | g.46411689G>T | CA410555195 | PCNT | c.5649G>T (p.Glu1883Asp) c.*4859G>T (n.*4859G>T) c.5616G>T (p.Glu1872Asp) n.5885G>T c.5262G>T (p.Glu1754Asp) c.5727G>T (p.Glu1909Asp) c.5697G>T (p.Glu1899Asp) c.5295G>T (p.Glu1765Asp) c.4533G>T (p.Glu1511Asp) c.3429G>T (p.Glu1143Asp) | |
21 | g.46411690A= | CA2392665004 | PCNT | c.5650A= (p.Arg1884=) c.*4860A= (n.*4860A=) c.5617A= (p.Arg1873=) n.5886A= c.5263A= (p.Arg1755=) c.5728A= (p.Arg1910=) c.5698A= (p.Arg1900=) c.5296A= (p.Arg1766=) c.4534A= (p.Arg1512=) c.3430A= (p.Arg1144=) | |
21 | g.46411690A>C | CA513174202 | PCNT | c.5650A>C (p.Arg1884=) c.*4860A>C (n.*4860A>C) c.5617A>C (p.Arg1873=) n.5886A>C c.5263A>C (p.Arg1755=) c.5728A>C (p.Arg1910=) c.5698A>C (p.Arg1900=) c.5296A>C (p.Arg1766=) c.4534A>C (p.Arg1512=) c.3430A>C (p.Arg1144=) | dbSNP |
21 | g.46411690A>G | CA410555198 | PCNT | c.5650A>G (p.Arg1884Gly) c.*4860A>G (n.*4860A>G) c.5617A>G (p.Arg1873Gly) n.5886A>G c.5263A>G (p.Arg1755Gly) c.5728A>G (p.Arg1910Gly) c.5698A>G (p.Arg1900Gly) c.5296A>G (p.Arg1766Gly) c.4534A>G (p.Arg1512Gly) c.3430A>G (p.Arg1144Gly) | |
21 | g.46411690A>T | CA410555211 | PCNT | c.5650A>T (p.Arg1884Ter) c.*4860A>T (n.*4860A>T) c.5617A>T (p.Arg1873Ter) n.5886A>T c.5263A>T (p.Arg1755Ter) c.5728A>T (p.Arg1910Ter) c.5698A>T (p.Arg1900Ter) c.5296A>T (p.Arg1766Ter) c.4534A>T (p.Arg1512Ter) c.3430A>T (p.Arg1144Ter) | |
21 | g.46411696_46411703dup | CA2577634003 | PCNT | c.5656_5663dup (p.Asp1889Ter) c.*4866_*4873dup (n.*4866_*4873dup) c.5623_5630dup (p.Asp1878Ter) n.5892_5899dup c.5269_5276dup (p.Asp1760Ter) c.5734_5741dup (p.Asp1915Ter) c.5704_5711dup (p.Asp1905Ter) c.5302_5309dup (p.Asp1771Ter) c.4540_4547dup (p.Asp1517Ter) c.3436_3443dup (p.Asp1149Ter) | |
21 | g.46411691G>A | CA410555212 | PCNT | c.5651G>A (p.Arg1884Lys) c.*4861G>A (n.*4861G>A) c.5618G>A (p.Arg1873Lys) n.5887G>A c.5264G>A (p.Arg1755Lys) c.5729G>A (p.Arg1910Lys) c.5699G>A (p.Arg1900Lys) c.5297G>A (p.Arg1766Lys) c.4535G>A (p.Arg1512Lys) c.3431G>A (p.Arg1144Lys) | |
21 | g.46411691G>C | CA410555213 | PCNT | c.5651G>C (p.Arg1884Thr) c.*4861G>C (n.*4861G>C) c.5618G>C (p.Arg1873Thr) n.5887G>C c.5264G>C (p.Arg1755Thr) c.5729G>C (p.Arg1910Thr) c.5699G>C (p.Arg1900Thr) c.5297G>C (p.Arg1766Thr) c.4535G>C (p.Arg1512Thr) c.3431G>C (p.Arg1144Thr) | |
21 | g.46411691G= | CA2392665005 | PCNT | c.5651G= (p.Arg1884=) c.*4861G= (n.*4861G=) c.5618G= (p.Arg1873=) n.5887G= c.5264G= (p.Arg1755=) c.5729G= (p.Arg1910=) c.5699G= (p.Arg1900=) c.5297G= (p.Arg1766=) c.4535G= (p.Arg1512=) c.3431G= (p.Arg1144=) | |
21 | g.46411691G>T | CA410555216 | PCNT | c.5651G>T (p.Arg1884Ile) c.*4861G>T (n.*4861G>T) c.5618G>T (p.Arg1873Ile) n.5887G>T c.5264G>T (p.Arg1755Ile) c.5729G>T (p.Arg1910Ile) c.5699G>T (p.Arg1900Ile) c.5297G>T (p.Arg1766Ile) c.4535G>T (p.Arg1512Ile) c.3431G>T (p.Arg1144Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411692A>C | CA410555223 | PCNT | c.5652A>C (p.Arg1884Ser) c.*4862A>C (n.*4862A>C) c.5619A>C (p.Arg1873Ser) n.5888A>C c.5265A>C (p.Arg1755Ser) c.5730A>C (p.Arg1910Ser) c.5700A>C (p.Arg1900Ser) c.5298A>C (p.Arg1766Ser) c.4536A>C (p.Arg1512Ser) c.3432A>C (p.Arg1144Ser) | |
21 | g.46411692A>G | CA513174207 | PCNT | c.5652A>G (p.Arg1884=) c.*4862A>G (n.*4862A>G) c.5619A>G (p.Arg1873=) n.5888A>G c.5265A>G (p.Arg1755=) c.5730A>G (p.Arg1910=) c.5700A>G (p.Arg1900=) c.5298A>G (p.Arg1766=) c.4536A>G (p.Arg1512=) c.3432A>G (p.Arg1144=) | ClinVar gnomAD v4 COSMIC |
21 | g.46411692A>T | CA410555219 | PCNT | c.5652A>T (p.Arg1884Ser) c.*4862A>T (n.*4862A>T) c.5619A>T (p.Arg1873Ser) n.5888A>T c.5265A>T (p.Arg1755Ser) c.5730A>T (p.Arg1910Ser) c.5700A>T (p.Arg1900Ser) c.5298A>T (p.Arg1766Ser) c.4536A>T (p.Arg1512Ser) c.3432A>T (p.Arg1144Ser) | |
21 | g.46411693A= | CA2392665006 | PCNT | c.5653A= (p.Asn1885=) c.*4863A= (n.*4863A=) c.5620A= (p.Asn1874=) n.5889A= c.5266A= (p.Asn1756=) c.5731A= (p.Asn1911=) c.5701A= (p.Asn1901=) c.5299A= (p.Asn1767=) c.4537A= (p.Asn1513=) c.3433A= (p.Asn1145=) | |
21 | g.46411693A>C | CA410555233 | PCNT | c.5653A>C (p.Asn1885His) c.*4863A>C (n.*4863A>C) c.5620A>C (p.Asn1874His) n.5889A>C c.5266A>C (p.Asn1756His) c.5731A>C (p.Asn1911His) c.5701A>C (p.Asn1901His) c.5299A>C (p.Asn1767His) c.4537A>C (p.Asn1513His) c.3433A>C (p.Asn1145His) | |
21 | g.46411693A>G | CA10080041 | PCNT | c.5653A>G (p.Asn1885Asp) c.*4863A>G (n.*4863A>G) c.5620A>G (p.Asn1874Asp) n.5889A>G c.5266A>G (p.Asn1756Asp) c.5731A>G (p.Asn1911Asp) c.5701A>G (p.Asn1901Asp) c.5299A>G (p.Asn1767Asp) c.4537A>G (p.Asn1513Asp) c.3433A>G (p.Asn1145Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411693A>T | CA410555256 | PCNT | c.5653A>T (p.Asn1885Tyr) c.*4863A>T (n.*4863A>T) c.5620A>T (p.Asn1874Tyr) n.5889A>T c.5266A>T (p.Asn1756Tyr) c.5731A>T (p.Asn1911Tyr) c.5701A>T (p.Asn1901Tyr) c.5299A>T (p.Asn1767Tyr) c.4537A>T (p.Asn1513Tyr) c.3433A>T (p.Asn1145Tyr) | |
21 | g.46411694A= | CA2392665007 | PCNT | c.5654A= (p.Asn1885=) c.*4864A= (n.*4864A=) c.5621A= (p.Asn1874=) n.5890A= c.5267A= (p.Asn1756=) c.5732A= (p.Asn1911=) c.5702A= (p.Asn1901=) c.5300A= (p.Asn1767=) c.4538A= (p.Asn1513=) c.3434A= (p.Asn1145=) | |
21 | g.46411694A>C | CA410555259 | PCNT | c.5654A>C (p.Asn1885Thr) c.*4864A>C (n.*4864A>C) c.5621A>C (p.Asn1874Thr) n.5890A>C c.5267A>C (p.Asn1756Thr) c.5732A>C (p.Asn1911Thr) c.5702A>C (p.Asn1901Thr) c.5300A>C (p.Asn1767Thr) c.4538A>C (p.Asn1513Thr) c.3434A>C (p.Asn1145Thr) | |
21 | g.46411694A>G | CA321998084 | PCNT | c.5654A>G (p.Asn1885Ser) c.*4864A>G (n.*4864A>G) c.5621A>G (p.Asn1874Ser) n.5890A>G c.5267A>G (p.Asn1756Ser) c.5732A>G (p.Asn1911Ser) c.5702A>G (p.Asn1901Ser) c.5300A>G (p.Asn1767Ser) c.4538A>G (p.Asn1513Ser) c.3434A>G (p.Asn1145Ser) | dbSNP gnomAD v4 |
21 | g.46411694A>T | CA410555270 | PCNT | c.5654A>T (p.Asn1885Ile) c.*4864A>T (n.*4864A>T) c.5621A>T (p.Asn1874Ile) n.5890A>T c.5267A>T (p.Asn1756Ile) c.5732A>T (p.Asn1911Ile) c.5702A>T (p.Asn1901Ile) c.5300A>T (p.Asn1767Ile) c.4538A>T (p.Asn1513Ile) c.3434A>T (p.Asn1145Ile) | |
21 | g.46411695T>A | CA410555271 | PCNT | c.5655T>A (p.Asn1885Lys) c.*4865T>A (n.*4865T>A) c.5622T>A (p.Asn1874Lys) n.5891T>A c.5268T>A (p.Asn1756Lys) c.5733T>A (p.Asn1911Lys) c.5703T>A (p.Asn1901Lys) c.5301T>A (p.Asn1767Lys) c.4539T>A (p.Asn1513Lys) c.3435T>A (p.Asn1145Lys) | |
21 | g.46411695T>C | CA513174215 | PCNT | c.5655T>C (p.Asn1885=) c.*4865T>C (n.*4865T>C) c.5622T>C (p.Asn1874=) n.5891T>C c.5268T>C (p.Asn1756=) c.5733T>C (p.Asn1911=) c.5703T>C (p.Asn1901=) c.5301T>C (p.Asn1767=) c.4539T>C (p.Asn1513=) c.3435T>C (p.Asn1145=) | |
21 | g.46411695T>G | CA410555272 | PCNT | c.5655T>G (p.Asn1885Lys) c.*4865T>G (n.*4865T>G) c.5622T>G (p.Asn1874Lys) n.5891T>G c.5268T>G (p.Asn1756Lys) c.5733T>G (p.Asn1911Lys) c.5703T>G (p.Asn1901Lys) c.5301T>G (p.Asn1767Lys) c.4539T>G (p.Asn1513Lys) c.3435T>G (p.Asn1145Lys) | |
21 | g.46411696T>A | CA410555275 | PCNT | c.5656T>A (p.Leu1886Ile) c.*4866T>A (n.*4866T>A) c.5623T>A (p.Leu1875Ile) n.5892T>A c.5269T>A (p.Leu1757Ile) c.5734T>A (p.Leu1912Ile) c.5704T>A (p.Leu1902Ile) c.5302T>A (p.Leu1768Ile) c.4540T>A (p.Leu1514Ile) c.3436T>A (p.Leu1146Ile) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411696T>C | CA513174218 | PCNT | c.5656T>C (p.Leu1886=) c.*4866T>C (n.*4866T>C) c.5623T>C (p.Leu1875=) n.5892T>C c.5269T>C (p.Leu1757=) c.5734T>C (p.Leu1912=) c.5704T>C (p.Leu1902=) c.5302T>C (p.Leu1768=) c.4540T>C (p.Leu1514=) c.3436T>C (p.Leu1146=) | |
21 | g.46411696T>G | CA410555278 | PCNT | c.5656T>G (p.Leu1886Val) c.*4866T>G (n.*4866T>G) c.5623T>G (p.Leu1875Val) n.5892T>G c.5269T>G (p.Leu1757Val) c.5734T>G (p.Leu1912Val) c.5704T>G (p.Leu1902Val) c.5302T>G (p.Leu1768Val) c.4540T>G (p.Leu1514Val) c.3436T>G (p.Leu1146Val) | |
21 | g.46411696T= | CA2392665008 | PCNT | c.5656T= (p.Leu1886=) c.*4866T= (n.*4866T=) c.5623T= (p.Leu1875=) n.5892T= c.5269T= (p.Leu1757=) c.5734T= (p.Leu1912=) c.5704T= (p.Leu1902=) c.5302T= (p.Leu1768=) c.4540T= (p.Leu1514=) c.3436T= (p.Leu1146=) | |
21 | g.46411697T>A | CA410555282 | PCNT | c.5657T>A (p.Leu1886Ter) c.*4867T>A (n.*4867T>A) c.5624T>A (p.Leu1875Ter) n.5893T>A c.5270T>A (p.Leu1757Ter) c.5735T>A (p.Leu1912Ter) c.5705T>A (p.Leu1902Ter) c.5303T>A (p.Leu1768Ter) c.4541T>A (p.Leu1514Ter) c.3437T>A (p.Leu1146Ter) | |
21 | g.46411697T>C | CA410555286 | PCNT | c.5657T>C (p.Leu1886Ser) c.*4867T>C (n.*4867T>C) c.5624T>C (p.Leu1875Ser) n.5893T>C c.5270T>C (p.Leu1757Ser) c.5735T>C (p.Leu1912Ser) c.5705T>C (p.Leu1902Ser) c.5303T>C (p.Leu1768Ser) c.4541T>C (p.Leu1514Ser) c.3437T>C (p.Leu1146Ser) | |
21 | g.46411697T>G | CA410555288 | PCNT | c.5657T>G (p.Leu1886Ter) c.*4867T>G (n.*4867T>G) c.5624T>G (p.Leu1875Ter) n.5893T>G c.5270T>G (p.Leu1757Ter) c.5735T>G (p.Leu1912Ter) c.5705T>G (p.Leu1902Ter) c.5303T>G (p.Leu1768Ter) c.4541T>G (p.Leu1514Ter) c.3437T>G (p.Leu1146Ter) | dbSNP |
21 | g.46411697T= | CA2392665009 | PCNT | c.5657T= (p.Leu1886=) c.*4867T= (n.*4867T=) c.5624T= (p.Leu1875=) n.5893T= c.5270T= (p.Leu1757=) c.5735T= (p.Leu1912=) c.5705T= (p.Leu1902=) c.5303T= (p.Leu1768=) c.4541T= (p.Leu1514=) c.3437T= (p.Leu1146=) | |
21 | g.46411698A= | CA2392665010 | PCNT | c.5658A= (p.Leu1886=) c.*4868A= (n.*4868A=) c.5625A= (p.Leu1875=) n.5894A= c.5271A= (p.Leu1757=) c.5736A= (p.Leu1912=) c.5706A= (p.Leu1902=) c.5304A= (p.Leu1768=) c.4542A= (p.Leu1514=) c.3438A= (p.Leu1146=) | |
21 | g.46411698A>C | CA410555294 | PCNT | c.5658A>C (p.Leu1886Phe) c.*4868A>C (n.*4868A>C) c.5625A>C (p.Leu1875Phe) n.5894A>C c.5271A>C (p.Leu1757Phe) c.5736A>C (p.Leu1912Phe) c.5706A>C (p.Leu1902Phe) c.5304A>C (p.Leu1768Phe) c.4542A>C (p.Leu1514Phe) c.3438A>C (p.Leu1146Phe) | |
21 | g.46411698A>G | CA10080042 | PCNT | c.5658A>G (p.Leu1886=) c.*4868A>G (n.*4868A>G) c.5625A>G (p.Leu1875=) n.5894A>G c.5271A>G (p.Leu1757=) c.5736A>G (p.Leu1912=) c.5706A>G (p.Leu1902=) c.5304A>G (p.Leu1768=) c.4542A>G (p.Leu1514=) c.3438A>G (p.Leu1146=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411698A>T | CA410555298 | PCNT | c.5658A>T (p.Leu1886Phe) c.*4868A>T (n.*4868A>T) c.5625A>T (p.Leu1875Phe) n.5894A>T c.5271A>T (p.Leu1757Phe) c.5736A>T (p.Leu1912Phe) c.5706A>T (p.Leu1902Phe) c.5304A>T (p.Leu1768Phe) c.4542A>T (p.Leu1514Phe) c.3438A>T (p.Leu1146Phe) | |
21 | g.46411699G>A | CA410555309 | PCNT | c.5659G>A (p.Glu1887Lys) c.*4869G>A (n.*4869G>A) c.5626G>A (p.Glu1876Lys) n.5895G>A c.5272G>A (p.Glu1758Lys) c.5737G>A (p.Glu1913Lys) c.5707G>A (p.Glu1903Lys) c.5305G>A (p.Glu1769Lys) c.4543G>A (p.Glu1515Lys) c.3439G>A (p.Glu1147Lys) | |
21 | g.46411699G>C | CA410555313 | PCNT | c.5659G>C (p.Glu1887Gln) c.*4869G>C (n.*4869G>C) c.5626G>C (p.Glu1876Gln) n.5895G>C c.5272G>C (p.Glu1758Gln) c.5737G>C (p.Glu1913Gln) c.5707G>C (p.Glu1903Gln) c.5305G>C (p.Glu1769Gln) c.4543G>C (p.Glu1515Gln) c.3439G>C (p.Glu1147Gln) | |
21 | g.46411699G>T | CA410555311 | PCNT | c.5659G>T (p.Glu1887Ter) c.*4869G>T (n.*4869G>T) c.5626G>T (p.Glu1876Ter) n.5895G>T c.5272G>T (p.Glu1758Ter) c.5737G>T (p.Glu1913Ter) c.5707G>T (p.Glu1903Ter) c.5305G>T (p.Glu1769Ter) c.4543G>T (p.Glu1515Ter) c.3439G>T (p.Glu1147Ter) | |
21 | g.46411700A>C | CA410555316 | PCNT | c.5660A>C (p.Glu1887Ala) c.*4870A>C (n.*4870A>C) c.5627A>C (p.Glu1876Ala) n.5896A>C c.5273A>C (p.Glu1758Ala) c.5738A>C (p.Glu1913Ala) c.5708A>C (p.Glu1903Ala) c.5306A>C (p.Glu1769Ala) c.4544A>C (p.Glu1515Ala) c.3440A>C (p.Glu1147Ala) | |
21 | g.46411700A>G | CA410555321 | PCNT | c.5660A>G (p.Glu1887Gly) c.*4870A>G (n.*4870A>G) c.5627A>G (p.Glu1876Gly) n.5896A>G c.5273A>G (p.Glu1758Gly) c.5738A>G (p.Glu1913Gly) c.5708A>G (p.Glu1903Gly) c.5306A>G (p.Glu1769Gly) c.4544A>G (p.Glu1515Gly) c.3440A>G (p.Glu1147Gly) | |
21 | g.46411700A>T | CA410555324 | PCNT | c.5660A>T (p.Glu1887Val) c.*4870A>T (n.*4870A>T) c.5627A>T (p.Glu1876Val) n.5896A>T c.5273A>T (p.Glu1758Val) c.5738A>T (p.Glu1913Val) c.5708A>T (p.Glu1903Val) c.5306A>T (p.Glu1769Val) c.4544A>T (p.Glu1515Val) c.3440A>T (p.Glu1147Val) | ClinVar |
21 | g.46411701A>C | CA410555325 | PCNT | c.5661A>C (p.Glu1887Asp) c.*4871A>C (n.*4871A>C) c.5628A>C (p.Glu1876Asp) n.5897A>C c.5274A>C (p.Glu1758Asp) c.5739A>C (p.Glu1913Asp) c.5709A>C (p.Glu1903Asp) c.5307A>C (p.Glu1769Asp) c.4545A>C (p.Glu1515Asp) c.3441A>C (p.Glu1147Asp) | |
21 | g.46411701A>G | CA513174224 | PCNT | c.5661A>G (p.Glu1887=) c.*4871A>G (n.*4871A>G) c.5628A>G (p.Glu1876=) n.5897A>G c.5274A>G (p.Glu1758=) c.5739A>G (p.Glu1913=) c.5709A>G (p.Glu1903=) c.5307A>G (p.Glu1769=) c.4545A>G (p.Glu1515=) c.3441A>G (p.Glu1147=) | |
21 | g.46411701A>T | CA410555326 | PCNT | c.5661A>T (p.Glu1887Asp) c.*4871A>T (n.*4871A>T) c.5628A>T (p.Glu1876Asp) n.5897A>T c.5274A>T (p.Glu1758Asp) c.5739A>T (p.Glu1913Asp) c.5709A>T (p.Glu1903Asp) c.5307A>T (p.Glu1769Asp) c.4545A>T (p.Glu1515Asp) c.3441A>T (p.Glu1147Asp) | |
21 | g.46411702A>C | CA410555329 | PCNT | c.5662A>C (p.Ile1888Leu) c.*4872A>C (n.*4872A>C) c.5629A>C (p.Ile1877Leu) n.5898A>C c.5275A>C (p.Ile1759Leu) c.5740A>C (p.Ile1914Leu) c.5710A>C (p.Ile1904Leu) c.5308A>C (p.Ile1770Leu) c.4546A>C (p.Ile1516Leu) c.3442A>C (p.Ile1148Leu) | |
21 | g.46411702A>G | CA410555331 | PCNT | c.5662A>G (p.Ile1888Val) c.*4872A>G (n.*4872A>G) c.5629A>G (p.Ile1877Val) n.5898A>G c.5275A>G (p.Ile1759Val) c.5740A>G (p.Ile1914Val) c.5710A>G (p.Ile1904Val) c.5308A>G (p.Ile1770Val) c.4546A>G (p.Ile1516Val) c.3442A>G (p.Ile1148Val) | gnomAD v4 |
21 | g.46411702A>T | CA410555339 | PCNT | c.5662A>T (p.Ile1888Phe) c.*4872A>T (n.*4872A>T) c.5629A>T (p.Ile1877Phe) n.5898A>T c.5275A>T (p.Ile1759Phe) c.5740A>T (p.Ile1914Phe) c.5710A>T (p.Ile1904Phe) c.5308A>T (p.Ile1770Phe) c.4546A>T (p.Ile1516Phe) c.3442A>T (p.Ile1148Phe) | |
21 | g.46411703T>A | CA410555343 | PCNT | c.5663T>A (p.Ile1888Asn) c.*4873T>A (n.*4873T>A) c.5630T>A (p.Ile1877Asn) n.5899T>A c.5276T>A (p.Ile1759Asn) c.5741T>A (p.Ile1914Asn) c.5711T>A (p.Ile1904Asn) c.5309T>A (p.Ile1770Asn) c.4547T>A (p.Ile1516Asn) c.3443T>A (p.Ile1148Asn) | |
21 | g.46411703T>C | CA410555348 | PCNT | c.5663T>C (p.Ile1888Thr) c.*4873T>C (n.*4873T>C) c.5630T>C (p.Ile1877Thr) n.5899T>C c.5276T>C (p.Ile1759Thr) c.5741T>C (p.Ile1914Thr) c.5711T>C (p.Ile1904Thr) c.5309T>C (p.Ile1770Thr) c.4547T>C (p.Ile1516Thr) c.3443T>C (p.Ile1148Thr) | |
21 | g.46411703T>G | CA410555349 | PCNT | c.5663T>G (p.Ile1888Ser) c.*4873T>G (n.*4873T>G) c.5630T>G (p.Ile1877Ser) n.5899T>G c.5276T>G (p.Ile1759Ser) c.5741T>G (p.Ile1914Ser) c.5711T>G (p.Ile1904Ser) c.5309T>G (p.Ile1770Ser) c.4547T>G (p.Ile1516Ser) c.3443T>G (p.Ile1148Ser) | |
21 | g.46411704C>A | CA513174231 | PCNT | c.5664C>A (p.Ile1888=) c.*4874C>A (n.*4874C>A) c.5631C>A (p.Ile1877=) n.5900C>A c.5277C>A (p.Ile1759=) c.5742C>A (p.Ile1914=) c.5712C>A (p.Ile1904=) c.5310C>A (p.Ile1770=) c.4548C>A (p.Ile1516=) c.3444C>A (p.Ile1148=) | |
21 | g.46411704C= | CA2392665011 | PCNT | c.5664C= (p.Ile1888=) c.*4874C= (n.*4874C=) c.5631C= (p.Ile1877=) n.5900C= c.5277C= (p.Ile1759=) c.5742C= (p.Ile1914=) c.5712C= (p.Ile1904=) c.5310C= (p.Ile1770=) c.4548C= (p.Ile1516=) c.3444C= (p.Ile1148=) | |
21 | g.46411704C>G | CA321998088 | PCNT | c.5664C>G (p.Ile1888Met) c.*4874C>G (n.*4874C>G) c.5631C>G (p.Ile1877Met) n.5900C>G c.5277C>G (p.Ile1759Met) c.5742C>G (p.Ile1914Met) c.5712C>G (p.Ile1904Met) c.5310C>G (p.Ile1770Met) c.4548C>G (p.Ile1516Met) c.3444C>G (p.Ile1148Met) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411704C>T | CA148443 | PCNT | c.5664C>T (p.Ile1888=) c.*4874C>T (n.*4874C>T) c.5631C>T (p.Ile1877=) n.5900C>T c.5277C>T (p.Ile1759=) c.5742C>T (p.Ile1914=) c.5712C>T (p.Ile1904=) c.5310C>T (p.Ile1770=) c.4548C>T (p.Ile1516=) c.3444C>T (p.Ile1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411705G>A | CA10080043 | PCNT | c.5665G>A (p.Asp1889Asn) c.*4875G>A (n.*4875G>A) c.5632G>A (p.Asp1878Asn) n.5901G>A c.5278G>A (p.Asp1760Asn) c.5743G>A (p.Asp1915Asn) c.5713G>A (p.Asp1905Asn) c.5311G>A (p.Asp1771Asn) c.4549G>A (p.Asp1517Asn) c.3445G>A (p.Asp1149Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411705G>C | CA410555356 | PCNT | c.5665G>C (p.Asp1889His) c.*4875G>C (n.*4875G>C) c.5632G>C (p.Asp1878His) n.5901G>C c.5278G>C (p.Asp1760His) c.5743G>C (p.Asp1915His) c.5713G>C (p.Asp1905His) c.5311G>C (p.Asp1771His) c.4549G>C (p.Asp1517His) c.3445G>C (p.Asp1149His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411705G= | CA2392665012 | PCNT | c.5665G= (p.Asp1889=) c.*4875G= (n.*4875G=) c.5632G= (p.Asp1878=) n.5901G= c.5278G= (p.Asp1760=) c.5743G= (p.Asp1915=) c.5713G= (p.Asp1905=) c.5311G= (p.Asp1771=) c.4549G= (p.Asp1517=) c.3445G= (p.Asp1149=) | |
21 | g.46411705G>T | CA10080044 | PCNT | c.5665G>T (p.Asp1889Tyr) c.*4875G>T (n.*4875G>T) c.5632G>T (p.Asp1878Tyr) n.5901G>T c.5278G>T (p.Asp1760Tyr) c.5743G>T (p.Asp1915Tyr) c.5713G>T (p.Asp1905Tyr) c.5311G>T (p.Asp1771Tyr) c.4549G>T (p.Asp1517Tyr) c.3445G>T (p.Asp1149Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411706A>C | CA410555365 | PCNT | c.5666A>C (p.Asp1889Ala) c.*4876A>C (n.*4876A>C) c.5633A>C (p.Asp1878Ala) n.5902A>C c.5279A>C (p.Asp1760Ala) c.5744A>C (p.Asp1915Ala) c.5714A>C (p.Asp1905Ala) c.5312A>C (p.Asp1771Ala) c.4550A>C (p.Asp1517Ala) c.3446A>C (p.Asp1149Ala) | |
21 | g.46411706A>G | CA410555370 | PCNT | c.5666A>G (p.Asp1889Gly) c.*4876A>G (n.*4876A>G) c.5633A>G (p.Asp1878Gly) n.5902A>G c.5279A>G (p.Asp1760Gly) c.5744A>G (p.Asp1915Gly) c.5714A>G (p.Asp1905Gly) c.5312A>G (p.Asp1771Gly) c.4550A>G (p.Asp1517Gly) c.3446A>G (p.Asp1149Gly) | |
21 | g.46411706A>T | CA410555378 | PCNT | c.5666A>T (p.Asp1889Val) c.*4876A>T (n.*4876A>T) c.5633A>T (p.Asp1878Val) n.5902A>T c.5279A>T (p.Asp1760Val) c.5744A>T (p.Asp1915Val) c.5714A>T (p.Asp1905Val) c.5312A>T (p.Asp1771Val) c.4550A>T (p.Asp1517Val) c.3446A>T (p.Asp1149Val) | |
21 | g.46411707C>A | CA410555382 | PCNT | c.5667C>A (p.Asp1889Glu) c.*4877C>A (n.*4877C>A) c.5634C>A (p.Asp1878Glu) n.5903C>A c.5280C>A (p.Asp1760Glu) c.5745C>A (p.Asp1915Glu) c.5715C>A (p.Asp1905Glu) c.5313C>A (p.Asp1771Glu) c.4551C>A (p.Asp1517Glu) c.3447C>A (p.Asp1149Glu) | gnomAD v4 |
21 | g.46411707C= | CA2392665013 | PCNT | c.5667C= (p.Asp1889=) c.*4877C= (n.*4877C=) c.5634C= (p.Asp1878=) n.5903C= c.5280C= (p.Asp1760=) c.5745C= (p.Asp1915=) c.5715C= (p.Asp1905=) c.5313C= (p.Asp1771=) c.4551C= (p.Asp1517=) c.3447C= (p.Asp1149=) | |
21 | g.46411707C>G | CA10080045 | PCNT | c.5667C>G (p.Asp1889Glu) c.*4877C>G (n.*4877C>G) c.5634C>G (p.Asp1878Glu) n.5903C>G c.5280C>G (p.Asp1760Glu) c.5745C>G (p.Asp1915Glu) c.5715C>G (p.Asp1905Glu) c.5313C>G (p.Asp1771Glu) c.4551C>G (p.Asp1517Glu) c.3447C>G (p.Asp1149Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411707C>T | CA148445 | PCNT | c.5667C>T (p.Asp1889=) c.*4877C>T (n.*4877C>T) c.5634C>T (p.Asp1878=) n.5903C>T c.5280C>T (p.Asp1760=) c.5745C>T (p.Asp1915=) c.5715C>T (p.Asp1905=) c.5313C>T (p.Asp1771=) c.4551C>T (p.Asp1517=) c.3447C>T (p.Asp1149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411708G>A | CA10080046 | PCNT | c.5668G>A (p.Ala1890Thr) c.*4878G>A (n.*4878G>A) c.5635G>A (p.Ala1879Thr) n.5904G>A c.5281G>A (p.Ala1761Thr) c.5746G>A (p.Ala1916Thr) c.5716G>A (p.Ala1906Thr) c.5314G>A (p.Ala1772Thr) c.4552G>A (p.Ala1518Thr) c.3448G>A (p.Ala1150Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411708G>C | CA410555397 | PCNT | c.5668G>C (p.Ala1890Pro) c.*4878G>C (n.*4878G>C) c.5635G>C (p.Ala1879Pro) n.5904G>C c.5281G>C (p.Ala1761Pro) c.5746G>C (p.Ala1916Pro) c.5716G>C (p.Ala1906Pro) c.5314G>C (p.Ala1772Pro) c.4552G>C (p.Ala1518Pro) c.3448G>C (p.Ala1150Pro) | |
21 | g.46411708G= | CA2392665014 | PCNT | c.5668G= (p.Ala1890=) c.*4878G= (n.*4878G=) c.5635G= (p.Ala1879=) n.5904G= c.5281G= (p.Ala1761=) c.5746G= (p.Ala1916=) c.5716G= (p.Ala1906=) c.5314G= (p.Ala1772=) c.4552G= (p.Ala1518=) c.3448G= (p.Ala1150=) | |
21 | g.46411708G>T | CA410555404 | PCNT | c.5668G>T (p.Ala1890Ser) c.*4878G>T (n.*4878G>T) c.5635G>T (p.Ala1879Ser) n.5904G>T c.5281G>T (p.Ala1761Ser) c.5746G>T (p.Ala1916Ser) c.5716G>T (p.Ala1906Ser) c.5314G>T (p.Ala1772Ser) c.4552G>T (p.Ala1518Ser) c.3448G>T (p.Ala1150Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411709C>A | CA410555411 | PCNT | c.5669C>A (p.Ala1890Asp) c.*4879C>A (n.*4879C>A) c.5636C>A (p.Ala1879Asp) n.5905C>A c.5282C>A (p.Ala1761Asp) c.5747C>A (p.Ala1916Asp) c.5717C>A (p.Ala1906Asp) c.5315C>A (p.Ala1772Asp) c.4553C>A (p.Ala1518Asp) c.3449C>A (p.Ala1150Asp) | |
21 | g.46411709C= | CA2392665015 | PCNT | c.5669C= (p.Ala1890=) c.*4879C= (n.*4879C=) c.5636C= (p.Ala1879=) n.5905C= c.5282C= (p.Ala1761=) c.5747C= (p.Ala1916=) c.5717C= (p.Ala1906=) c.5315C= (p.Ala1772=) c.4553C= (p.Ala1518=) c.3449C= (p.Ala1150=) | |
21 | g.46411709C>G | CA410555414 | PCNT | c.5669C>G (p.Ala1890Gly) c.*4879C>G (n.*4879C>G) c.5636C>G (p.Ala1879Gly) n.5905C>G c.5282C>G (p.Ala1761Gly) c.5747C>G (p.Ala1916Gly) c.5717C>G (p.Ala1906Gly) c.5315C>G (p.Ala1772Gly) c.4553C>G (p.Ala1518Gly) c.3449C>G (p.Ala1150Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411709C>T | CA410555409 | PCNT | c.5669C>T (p.Ala1890Val) c.*4879C>T (n.*4879C>T) c.5636C>T (p.Ala1879Val) n.5905C>T c.5282C>T (p.Ala1761Val) c.5747C>T (p.Ala1916Val) c.5717C>T (p.Ala1906Val) c.5315C>T (p.Ala1772Val) c.4553C>T (p.Ala1518Val) c.3449C>T (p.Ala1150Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411710T>A | CA513174248 | PCNT | c.5670T>A (p.Ala1890=) c.*4880T>A (n.*4880T>A) c.5637T>A (p.Ala1879=) n.5906T>A c.5283T>A (p.Ala1761=) c.5748T>A (p.Ala1916=) c.5718T>A (p.Ala1906=) c.5316T>A (p.Ala1772=) c.4554T>A (p.Ala1518=) c.3450T>A (p.Ala1150=) | |
21 | g.46411710T>C | CA513174247 | PCNT | c.5670T>C (p.Ala1890=) c.*4880T>C (n.*4880T>C) c.5637T>C (p.Ala1879=) n.5906T>C c.5283T>C (p.Ala1761=) c.5748T>C (p.Ala1916=) c.5718T>C (p.Ala1906=) c.5316T>C (p.Ala1772=) c.4554T>C (p.Ala1518=) c.3450T>C (p.Ala1150=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411710T>G | CA513174246 | PCNT | c.5670T>G (p.Ala1890=) c.*4880T>G (n.*4880T>G) c.5637T>G (p.Ala1879=) n.5906T>G c.5283T>G (p.Ala1761=) c.5748T>G (p.Ala1916=) c.5718T>G (p.Ala1906=) c.5316T>G (p.Ala1772=) c.4554T>G (p.Ala1518=) c.3450T>G (p.Ala1150=) | |
21 | g.46411710T= | CA2392665016 | PCNT | c.5670T= (p.Ala1890=) c.*4880T= (n.*4880T=) c.5637T= (p.Ala1879=) n.5906T= c.5283T= (p.Ala1761=) c.5748T= (p.Ala1916=) c.5718T= (p.Ala1906=) c.5316T= (p.Ala1772=) c.4554T= (p.Ala1518=) c.3450T= (p.Ala1150=) | |
21 | g.46411711C>A | CA410555416 | PCNT | c.5671C>A (p.Leu1891Met) c.*4881C>A (n.*4881C>A) c.5638C>A (p.Leu1880Met) n.5907C>A c.5284C>A (p.Leu1762Met) c.5749C>A (p.Leu1917Met) c.5719C>A (p.Leu1907Met) c.5317C>A (p.Leu1773Met) c.4555C>A (p.Leu1519Met) c.3451C>A (p.Leu1151Met) | |
21 | g.46411711C= | CA2392665017 | PCNT | c.5671C= (p.Leu1891=) c.*4881C= (n.*4881C=) c.5638C= (p.Leu1880=) n.5907C= c.5284C= (p.Leu1762=) c.5749C= (p.Leu1917=) c.5719C= (p.Leu1907=) c.5317C= (p.Leu1773=) c.4555C= (p.Leu1519=) c.3451C= (p.Leu1151=) | |
21 | g.46411711C>G | CA410555418 | PCNT | c.5671C>G (p.Leu1891Val) c.*4881C>G (n.*4881C>G) c.5638C>G (p.Leu1880Val) n.5907C>G c.5284C>G (p.Leu1762Val) c.5749C>G (p.Leu1917Val) c.5719C>G (p.Leu1907Val) c.5317C>G (p.Leu1773Val) c.4555C>G (p.Leu1519Val) c.3451C>G (p.Leu1151Val) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411711C>T | CA513174249 | PCNT | c.5671C>T (p.Leu1891=) c.*4881C>T (n.*4881C>T) c.5638C>T (p.Leu1880=) n.5907C>T c.5284C>T (p.Leu1762=) c.5749C>T (p.Leu1917=) c.5719C>T (p.Leu1907=) c.5317C>T (p.Leu1773=) c.4555C>T (p.Leu1519=) c.3451C>T (p.Leu1151=) | |
21 | g.46411712T>A | CA410555420 | PCNT | c.5672T>A (p.Leu1891Gln) c.*4882T>A (n.*4882T>A) c.5639T>A (p.Leu1880Gln) n.5908T>A c.5285T>A (p.Leu1762Gln) c.5750T>A (p.Leu1917Gln) c.5720T>A (p.Leu1907Gln) c.5318T>A (p.Leu1773Gln) c.4556T>A (p.Leu1519Gln) c.3452T>A (p.Leu1151Gln) | |
21 | g.46411712T>C | CA410555422 | PCNT | c.5672T>C (p.Leu1891Pro) c.*4882T>C (n.*4882T>C) c.5639T>C (p.Leu1880Pro) n.5908T>C c.5285T>C (p.Leu1762Pro) c.5750T>C (p.Leu1917Pro) c.5720T>C (p.Leu1907Pro) c.5318T>C (p.Leu1773Pro) c.4556T>C (p.Leu1519Pro) c.3452T>C (p.Leu1151Pro) | |
21 | g.46411712T>G | CA410555431 | PCNT | c.5672T>G (p.Leu1891Arg) c.*4882T>G (n.*4882T>G) c.5639T>G (p.Leu1880Arg) n.5908T>G c.5285T>G (p.Leu1762Arg) c.5750T>G (p.Leu1917Arg) c.5720T>G (p.Leu1907Arg) c.5318T>G (p.Leu1773Arg) c.4556T>G (p.Leu1519Arg) c.3452T>G (p.Leu1151Arg) | |
21 | g.46411713G>A | CA513174251 | PCNT | c.5673G>A (p.Leu1891=) c.*4883G>A (n.*4883G>A) c.5640G>A (p.Leu1880=) n.5909G>A c.5286G>A (p.Leu1762=) c.5751G>A (p.Leu1917=) c.5721G>A (p.Leu1907=) c.5319G>A (p.Leu1773=) c.4557G>A (p.Leu1519=) c.3453G>A (p.Leu1151=) | |
21 | g.46411713G>C | CA513174255 | PCNT | c.5673G>C (p.Leu1891=) c.*4883G>C (n.*4883G>C) c.5640G>C (p.Leu1880=) n.5909G>C c.5286G>C (p.Leu1762=) c.5751G>C (p.Leu1917=) c.5721G>C (p.Leu1907=) c.5319G>C (p.Leu1773=) c.4557G>C (p.Leu1519=) c.3453G>C (p.Leu1151=) | dbSNP |
21 | g.46411713G= | CA2392665018 | PCNT | c.5673G= (p.Leu1891=) c.*4883G= (n.*4883G=) c.5640G= (p.Leu1880=) n.5909G= c.5286G= (p.Leu1762=) c.5751G= (p.Leu1917=) c.5721G= (p.Leu1907=) c.5319G= (p.Leu1773=) c.4557G= (p.Leu1519=) c.3453G= (p.Leu1151=) | |
21 | g.46411713G>T | CA513174257 | PCNT | c.5673G>T (p.Leu1891=) c.*4883G>T (n.*4883G>T) c.5640G>T (p.Leu1880=) n.5909G>T c.5286G>T (p.Leu1762=) c.5751G>T (p.Leu1917=) c.5721G>T (p.Leu1907=) c.5319G>T (p.Leu1773=) c.4557G>T (p.Leu1519=) c.3453G>T (p.Leu1151=) | |
21 | g.46411714A>C | CA410555436 | PCNT | c.5674A>C (p.Asn1892His) c.*4884A>C (n.*4884A>C) c.5641A>C (p.Asn1881His) n.5910A>C c.5287A>C (p.Asn1763His) c.5752A>C (p.Asn1918His) c.5722A>C (p.Asn1908His) c.5320A>C (p.Asn1774His) c.4558A>C (p.Asn1520His) c.3454A>C (p.Asn1152His) | |
21 | g.46411714A>G | CA410555439 | PCNT | c.5674A>G (p.Asn1892Asp) c.*4884A>G (n.*4884A>G) c.5641A>G (p.Asn1881Asp) n.5910A>G c.5287A>G (p.Asn1763Asp) c.5752A>G (p.Asn1918Asp) c.5722A>G (p.Asn1908Asp) c.5320A>G (p.Asn1774Asp) c.4558A>G (p.Asn1520Asp) c.3454A>G (p.Asn1152Asp) | |
21 | g.46411714A>T | CA410555447 | PCNT | c.5674A>T (p.Asn1892Tyr) c.*4884A>T (n.*4884A>T) c.5641A>T (p.Asn1881Tyr) n.5910A>T c.5287A>T (p.Asn1763Tyr) c.5752A>T (p.Asn1918Tyr) c.5722A>T (p.Asn1908Tyr) c.5320A>T (p.Asn1774Tyr) c.4558A>T (p.Asn1520Tyr) c.3454A>T (p.Asn1152Tyr) | |
21 | g.46411715A>C | CA410555448 | PCNT | c.5675A>C (p.Asn1892Thr) c.*4885A>C (n.*4885A>C) c.5642A>C (p.Asn1881Thr) n.5911A>C c.5288A>C (p.Asn1763Thr) c.5753A>C (p.Asn1918Thr) c.5723A>C (p.Asn1908Thr) c.5321A>C (p.Asn1774Thr) c.4559A>C (p.Asn1520Thr) c.3455A>C (p.Asn1152Thr) | |
21 | g.46411715A>G | CA410555449 | PCNT | c.5675A>G (p.Asn1892Ser) c.*4885A>G (n.*4885A>G) c.5642A>G (p.Asn1881Ser) n.5911A>G c.5288A>G (p.Asn1763Ser) c.5753A>G (p.Asn1918Ser) c.5723A>G (p.Asn1908Ser) c.5321A>G (p.Asn1774Ser) c.4559A>G (p.Asn1520Ser) c.3455A>G (p.Asn1152Ser) | |
21 | g.46411715A>T | CA410555452 | PCNT | c.5675A>T (p.Asn1892Ile) c.*4885A>T (n.*4885A>T) c.5642A>T (p.Asn1881Ile) n.5911A>T c.5288A>T (p.Asn1763Ile) c.5753A>T (p.Asn1918Ile) c.5723A>T (p.Asn1908Ile) c.5321A>T (p.Asn1774Ile) c.4559A>T (p.Asn1520Ile) c.3455A>T (p.Asn1152Ile) | |
21 | g.46411716C>A | CA410555456 | PCNT | c.5676C>A (p.Asn1892Lys) c.*4886C>A (n.*4886C>A) c.5643C>A (p.Asn1881Lys) n.5912C>A c.5289C>A (p.Asn1763Lys) c.5754C>A (p.Asn1918Lys) c.5724C>A (p.Asn1908Lys) c.5322C>A (p.Asn1774Lys) c.4560C>A (p.Asn1520Lys) c.3456C>A (p.Asn1152Lys) | |
21 | g.46411716C>G | CA410555458 | PCNT | c.5676C>G (p.Asn1892Lys) c.*4886C>G (n.*4886C>G) c.5643C>G (p.Asn1881Lys) n.5912C>G c.5289C>G (p.Asn1763Lys) c.5754C>G (p.Asn1918Lys) c.5724C>G (p.Asn1908Lys) c.5322C>G (p.Asn1774Lys) c.4560C>G (p.Asn1520Lys) c.3456C>G (p.Asn1152Lys) | gnomAD v4 |
21 | g.46411716C>T | CA513174264 | PCNT | c.5676C>T (p.Asn1892=) c.*4886C>T (n.*4886C>T) c.5643C>T (p.Asn1881=) n.5912C>T c.5289C>T (p.Asn1763=) c.5754C>T (p.Asn1918=) c.5724C>T (p.Asn1908=) c.5322C>T (p.Asn1774=) c.4560C>T (p.Asn1520=) c.3456C>T (p.Asn1152=) | gnomAD v4 |
21 | g.46411717C>A | CA410555466 | PCNT | c.5677C>A (p.Gln1893Lys) c.*4887C>A (n.*4887C>A) c.5644C>A (p.Gln1882Lys) n.5913C>A c.5290C>A (p.Gln1764Lys) c.5755C>A (p.Gln1919Lys) c.5725C>A (p.Gln1909Lys) c.5323C>A (p.Gln1775Lys) c.4561C>A (p.Gln1521Lys) c.3457C>A (p.Gln1153Lys) | |
21 | g.46411717C>G | CA410555463 | PCNT | c.5677C>G (p.Gln1893Glu) c.*4887C>G (n.*4887C>G) c.5644C>G (p.Gln1882Glu) n.5913C>G c.5290C>G (p.Gln1764Glu) c.5755C>G (p.Gln1919Glu) c.5725C>G (p.Gln1909Glu) c.5323C>G (p.Gln1775Glu) c.4561C>G (p.Gln1521Glu) c.3457C>G (p.Gln1153Glu) | |
21 | g.46411717C>T | CA410555460 | PCNT | c.5677C>T (p.Gln1893Ter) c.*4887C>T (n.*4887C>T) c.5644C>T (p.Gln1882Ter) n.5913C>T c.5290C>T (p.Gln1764Ter) c.5755C>T (p.Gln1919Ter) c.5725C>T (p.Gln1909Ter) c.5323C>T (p.Gln1775Ter) c.4561C>T (p.Gln1521Ter) c.3457C>T (p.Gln1153Ter) | |
21 | g.46411718A>C | CA410555467 | PCNT | c.5678A>C (p.Gln1893Pro) c.*4888A>C (n.*4888A>C) c.5645A>C (p.Gln1882Pro) n.5914A>C c.5291A>C (p.Gln1764Pro) c.5756A>C (p.Gln1919Pro) c.5726A>C (p.Gln1909Pro) c.5324A>C (p.Gln1775Pro) c.4562A>C (p.Gln1521Pro) c.3458A>C (p.Gln1153Pro) | |
21 | g.46411718A>G | CA410555471 | PCNT | c.5678A>G (p.Gln1893Arg) c.*4888A>G (n.*4888A>G) c.5645A>G (p.Gln1882Arg) n.5914A>G c.5291A>G (p.Gln1764Arg) c.5756A>G (p.Gln1919Arg) c.5726A>G (p.Gln1909Arg) c.5324A>G (p.Gln1775Arg) c.4562A>G (p.Gln1521Arg) c.3458A>G (p.Gln1153Arg) | |
21 | g.46411718A>T | CA410555475 | PCNT | c.5678A>T (p.Gln1893Leu) c.*4888A>T (n.*4888A>T) c.5645A>T (p.Gln1882Leu) n.5914A>T c.5291A>T (p.Gln1764Leu) c.5756A>T (p.Gln1919Leu) c.5726A>T (p.Gln1909Leu) c.5324A>T (p.Gln1775Leu) c.4562A>T (p.Gln1521Leu) c.3458A>T (p.Gln1153Leu) | |
21 | g.46411719G>A | CA513174270 | PCNT | c.5679G>A (p.Gln1893=) c.*4889G>A (n.*4889G>A) c.5646G>A (p.Gln1882=) n.5915G>A c.5292G>A (p.Gln1764=) c.5757G>A (p.Gln1919=) c.5727G>A (p.Gln1909=) c.5325G>A (p.Gln1775=) c.4563G>A (p.Gln1521=) c.3459G>A (p.Gln1153=) | |
21 | g.46411719G>C | CA410555477 | PCNT | c.5679G>C (p.Gln1893His) c.*4889G>C (n.*4889G>C) c.5646G>C (p.Gln1882His) n.5915G>C c.5292G>C (p.Gln1764His) c.5757G>C (p.Gln1919His) c.5727G>C (p.Gln1909His) c.5325G>C (p.Gln1775His) c.4563G>C (p.Gln1521His) c.3459G>C (p.Gln1153His) | |
21 | g.46411719G>T | CA410555479 | PCNT | c.5679G>T (p.Gln1893His) c.*4889G>T (n.*4889G>T) c.5646G>T (p.Gln1882His) n.5915G>T c.5292G>T (p.Gln1764His) c.5757G>T (p.Gln1919His) c.5727G>T (p.Gln1909His) c.5325G>T (p.Gln1775His) c.4563G>T (p.Gln1521His) c.3459G>T (p.Gln1153His) | gnomAD v4 |
21 | g.46411720C>A | CA513174272 | PCNT | c.5680C>A (p.Arg1894=) c.*4890C>A (n.*4890C>A) c.5647C>A (p.Arg1883=) n.5916C>A c.5293C>A (p.Arg1765=) c.5758C>A (p.Arg1920=) c.5728C>A (p.Arg1910=) c.5326C>A (p.Arg1776=) c.4564C>A (p.Arg1522=) c.3460C>A (p.Arg1154=) | |
21 | g.46411720C= | CA2392665019 | PCNT | c.5680C= (p.Arg1894=) c.*4890C= (n.*4890C=) c.5647C= (p.Arg1883=) n.5916C= c.5293C= (p.Arg1765=) c.5758C= (p.Arg1920=) c.5728C= (p.Arg1910=) c.5326C= (p.Arg1776=) c.4564C= (p.Arg1522=) c.3460C= (p.Arg1154=) | |
21 | g.46411720C>G | CA410555483 | PCNT | c.5680C>G (p.Arg1894Gly) c.*4890C>G (n.*4890C>G) c.5647C>G (p.Arg1883Gly) n.5916C>G c.5293C>G (p.Arg1765Gly) c.5758C>G (p.Arg1920Gly) c.5728C>G (p.Arg1910Gly) c.5326C>G (p.Arg1776Gly) c.4564C>G (p.Arg1522Gly) c.3460C>G (p.Arg1154Gly) | |
21 | g.46411720C>T | CA10080047 | PCNT | c.5680C>T (p.Arg1894Trp) c.*4890C>T (n.*4890C>T) c.5647C>T (p.Arg1883Trp) n.5916C>T c.5293C>T (p.Arg1765Trp) c.5758C>T (p.Arg1920Trp) c.5728C>T (p.Arg1910Trp) c.5326C>T (p.Arg1776Trp) c.4564C>T (p.Arg1522Trp) c.3460C>T (p.Arg1154Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411721G>A | CA10080048 | PCNT | c.5681G>A (p.Arg1894Gln) c.*4891G>A (n.*4891G>A) c.5648G>A (p.Arg1883Gln) n.5917G>A c.5294G>A (p.Arg1765Gln) c.5759G>A (p.Arg1920Gln) c.5729G>A (p.Arg1910Gln) c.5327G>A (p.Arg1776Gln) c.4565G>A (p.Arg1522Gln) c.3461G>A (p.Arg1154Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46411721G>C | CA410555503 | PCNT | c.5681G>C (p.Arg1894Pro) c.*4891G>C (n.*4891G>C) c.5648G>C (p.Arg1883Pro) n.5917G>C c.5294G>C (p.Arg1765Pro) c.5759G>C (p.Arg1920Pro) c.5729G>C (p.Arg1910Pro) c.5327G>C (p.Arg1776Pro) c.4565G>C (p.Arg1522Pro) c.3461G>C (p.Arg1154Pro) | gnomAD v4 |
21 | g.46411721G= | CA2392665020 | PCNT | c.5681G= (p.Arg1894=) c.*4891G= (n.*4891G=) c.5648G= (p.Arg1883=) n.5917G= c.5294G= (p.Arg1765=) c.5759G= (p.Arg1920=) c.5729G= (p.Arg1910=) c.5327G= (p.Arg1776=) c.4565G= (p.Arg1522=) c.3461G= (p.Arg1154=) | |
21 | g.46411721G>T | CA410555507 | PCNT | c.5681G>T (p.Arg1894Leu) c.*4891G>T (n.*4891G>T) c.5648G>T (p.Arg1883Leu) n.5917G>T c.5294G>T (p.Arg1765Leu) c.5759G>T (p.Arg1920Leu) c.5729G>T (p.Arg1910Leu) c.5327G>T (p.Arg1776Leu) c.4565G>T (p.Arg1522Leu) c.3461G>T (p.Arg1154Leu) | gnomAD v4 |
21 | g.46411722G>A | CA513174275 | PCNT | c.5682G>A (p.Arg1894=) c.*4892G>A (n.*4892G>A) c.5649G>A (p.Arg1883=) n.5918G>A c.5295G>A (p.Arg1765=) c.5760G>A (p.Arg1920=) c.5730G>A (p.Arg1910=) c.5328G>A (p.Arg1776=) c.4566G>A (p.Arg1522=) c.3462G>A (p.Arg1154=) | COSMIC |
21 | g.46411722G>C | CA513174276 | PCNT | c.5682G>C (p.Arg1894=) c.*4892G>C (n.*4892G>C) c.5649G>C (p.Arg1883=) n.5918G>C c.5295G>C (p.Arg1765=) c.5760G>C (p.Arg1920=) c.5730G>C (p.Arg1910=) c.5328G>C (p.Arg1776=) c.4566G>C (p.Arg1522=) c.3462G>C (p.Arg1154=) | |
21 | g.46411722G>T | CA513174277 | PCNT | c.5682G>T (p.Arg1894=) c.*4892G>T (n.*4892G>T) c.5649G>T (p.Arg1883=) n.5918G>T c.5295G>T (p.Arg1765=) c.5760G>T (p.Arg1920=) c.5730G>T (p.Arg1910=) c.5328G>T (p.Arg1776=) c.4566G>T (p.Arg1522=) c.3462G>T (p.Arg1154=) | |
21 | g.46411723A>C | CA410555514 | PCNT | c.5683A>C (p.Lys1895Gln) c.*4893A>C (n.*4893A>C) c.5650A>C (p.Lys1884Gln) n.5919A>C c.5296A>C (p.Lys1766Gln) c.5761A>C (p.Lys1921Gln) c.5731A>C (p.Lys1911Gln) c.5329A>C (p.Lys1777Gln) c.4567A>C (p.Lys1523Gln) c.3463A>C (p.Lys1155Gln) | |
21 | g.46411723A>G | CA410555534 | PCNT | c.5683A>G (p.Lys1895Glu) c.*4893A>G (n.*4893A>G) c.5650A>G (p.Lys1884Glu) n.5919A>G c.5296A>G (p.Lys1766Glu) c.5761A>G (p.Lys1921Glu) c.5731A>G (p.Lys1911Glu) c.5329A>G (p.Lys1777Glu) c.4567A>G (p.Lys1523Glu) c.3463A>G (p.Lys1155Glu) | |
21 | g.46411723A>T | CA410555546 | PCNT | c.5683A>T (p.Lys1895Ter) c.*4893A>T (n.*4893A>T) c.5650A>T (p.Lys1884Ter) n.5919A>T c.5296A>T (p.Lys1766Ter) c.5761A>T (p.Lys1921Ter) c.5731A>T (p.Lys1911Ter) c.5329A>T (p.Lys1777Ter) c.4567A>T (p.Lys1523Ter) c.3463A>T (p.Lys1155Ter) | |
21 | g.46411724A>C | CA410555563 | PCNT | c.5684A>C (p.Lys1895Thr) c.*4894A>C (n.*4894A>C) c.5651A>C (p.Lys1884Thr) n.5920A>C c.5297A>C (p.Lys1766Thr) c.5762A>C (p.Lys1921Thr) c.5732A>C (p.Lys1911Thr) c.5330A>C (p.Lys1777Thr) c.4568A>C (p.Lys1523Thr) c.3464A>C (p.Lys1155Thr) | |
21 | g.46411724A>G | CA410555549 | PCNT | c.5684A>G (p.Lys1895Arg) c.*4894A>G (n.*4894A>G) c.5651A>G (p.Lys1884Arg) n.5920A>G c.5297A>G (p.Lys1766Arg) c.5762A>G (p.Lys1921Arg) c.5732A>G (p.Lys1911Arg) c.5330A>G (p.Lys1777Arg) c.4568A>G (p.Lys1523Arg) c.3464A>G (p.Lys1155Arg) | |
21 | g.46411724A>T | CA410555556 | PCNT | c.5684A>T (p.Lys1895Met) c.*4894A>T (n.*4894A>T) c.5651A>T (p.Lys1884Met) n.5920A>T c.5297A>T (p.Lys1766Met) c.5762A>T (p.Lys1921Met) c.5732A>T (p.Lys1911Met) c.5330A>T (p.Lys1777Met) c.4568A>T (p.Lys1523Met) c.3464A>T (p.Lys1155Met) | |
21 | g.46411725G>A | CA513174281 | PCNT | c.5685G>A (p.Lys1895=) c.*4895G>A (n.*4895G>A) c.5652G>A (p.Lys1884=) n.5921G>A c.5298G>A (p.Lys1766=) c.5763G>A (p.Lys1921=) c.5733G>A (p.Lys1911=) c.5331G>A (p.Lys1777=) c.4569G>A (p.Lys1523=) c.3465G>A (p.Lys1155=) | COSMIC |
21 | g.46411725G>C | CA410555566 | PCNT | c.5685G>C (p.Lys1895Asn) c.*4895G>C (n.*4895G>C) c.5652G>C (p.Lys1884Asn) n.5921G>C c.5298G>C (p.Lys1766Asn) c.5763G>C (p.Lys1921Asn) c.5733G>C (p.Lys1911Asn) c.5331G>C (p.Lys1777Asn) c.4569G>C (p.Lys1523Asn) c.3465G>C (p.Lys1155Asn) | |
21 | g.46411725G>T | CA410555571 | PCNT | c.5685G>T (p.Lys1895Asn) c.*4895G>T (n.*4895G>T) c.5652G>T (p.Lys1884Asn) n.5921G>T c.5298G>T (p.Lys1766Asn) c.5763G>T (p.Lys1921Asn) c.5733G>T (p.Lys1911Asn) c.5331G>T (p.Lys1777Asn) c.4569G>T (p.Lys1523Asn) c.3465G>T (p.Lys1155Asn) | |
21 | g.46411726G>A | CA410555575 | PCNT | c.5686G>A (p.Ala1896Thr) c.*4896G>A (n.*4896G>A) c.5653G>A (p.Ala1885Thr) n.5922G>A c.5299G>A (p.Ala1767Thr) c.5764G>A (p.Ala1922Thr) c.5734G>A (p.Ala1912Thr) c.5332G>A (p.Ala1778Thr) c.4570G>A (p.Ala1524Thr) c.3466G>A (p.Ala1156Thr) | |
21 | g.46411726G>C | CA410555605 | PCNT | c.5686G>C (p.Ala1896Pro) c.*4896G>C (n.*4896G>C) c.5653G>C (p.Ala1885Pro) n.5922G>C c.5299G>C (p.Ala1767Pro) c.5764G>C (p.Ala1922Pro) c.5734G>C (p.Ala1912Pro) c.5332G>C (p.Ala1778Pro) c.4570G>C (p.Ala1524Pro) c.3466G>C (p.Ala1156Pro) | |
21 | g.46411726G>T | CA410555591 | PCNT | c.5686G>T (p.Ala1896Ser) c.*4896G>T (n.*4896G>T) c.5653G>T (p.Ala1885Ser) n.5922G>T c.5299G>T (p.Ala1767Ser) c.5764G>T (p.Ala1922Ser) c.5734G>T (p.Ala1912Ser) c.5332G>T (p.Ala1778Ser) c.4570G>T (p.Ala1524Ser) c.3466G>T (p.Ala1156Ser) | |
21 | g.46411727C>A | CA410555608 | PCNT | c.5687C>A (p.Ala1896Glu) c.*4897C>A (n.*4897C>A) c.5654C>A (p.Ala1885Glu) n.5923C>A c.5300C>A (p.Ala1767Glu) c.5765C>A (p.Ala1922Glu) c.5735C>A (p.Ala1912Glu) c.5333C>A (p.Ala1778Glu) c.4571C>A (p.Ala1524Glu) c.3467C>A (p.Ala1156Glu) | dbSNP gnomAD v4 |
21 | g.46411727C= | CA2392665021 | PCNT | c.5687C= (p.Ala1896=) c.*4897C= (n.*4897C=) c.5654C= (p.Ala1885=) n.5923C= c.5300C= (p.Ala1767=) c.5765C= (p.Ala1922=) c.5735C= (p.Ala1912=) c.5333C= (p.Ala1778=) c.4571C= (p.Ala1524=) c.3467C= (p.Ala1156=) | |
21 | g.46411727C>G | CA410555612 | PCNT | c.5687C>G (p.Ala1896Gly) c.*4897C>G (n.*4897C>G) c.5654C>G (p.Ala1885Gly) n.5923C>G c.5300C>G (p.Ala1767Gly) c.5765C>G (p.Ala1922Gly) c.5735C>G (p.Ala1912Gly) c.5333C>G (p.Ala1778Gly) c.4571C>G (p.Ala1524Gly) c.3467C>G (p.Ala1156Gly) | |
21 | g.46411727C>T | CA10080049 | PCNT | c.5687C>T (p.Ala1896Val) c.*4897C>T (n.*4897C>T) c.5654C>T (p.Ala1885Val) n.5923C>T c.5300C>T (p.Ala1767Val) c.5765C>T (p.Ala1922Val) c.5735C>T (p.Ala1912Val) c.5333C>T (p.Ala1778Val) c.4571C>T (p.Ala1524Val) c.3467C>T (p.Ala1156Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411727_46411728insTC | CA2655023803 | PCNT | c.5687_5688insTC (p.Ala1897ArgfsTer?) c.*4897_*4898insTC (n.*4897_*4898insTC) c.5654_5655insTC (p.Ala1886ArgfsTer?) n.5923_5924insTC c.5300_5301insTC (p.Ala1768ArgfsTer?) c.5765_5766insTC (p.Ala1923ArgfsTer?) c.5735_5736insTC (p.Ala1913ArgfsTer?) c.5333_5334insTC (p.Ala1779ArgfsTer?) c.4571_4572insTC (p.Ala1525ArgfsTer?) c.3467_3468insTC (p.Ala1157ArgfsTer?) | gnomAD v4 |
21 | g.46411727_46411728delinsCG | CA2392665022 | PCNT | c.5687_5688delinsCG (p.Ala1896=) c.*4897_*4898delinsCG (n.*4897_*4898delinsCG) c.5654_5655delinsCG (p.Ala1885=) n.5923_5924delinsCG c.5300_5301delinsCG (p.Ala1767=) c.5765_5766delinsCG (p.Ala1922=) c.5735_5736delinsCG (p.Ala1912=) c.5333_5334delinsCG (p.Ala1778=) c.4571_4572delinsCG (p.Ala1524=) c.3467_3468delinsCG (p.Ala1156=) | |
21 | g.46411728G>A | CA10080050 | PCNT | c.5688G>A (p.Ala1896=) c.*4898G>A (n.*4898G>A) c.5655G>A (p.Ala1885=) n.5924G>A c.5301G>A (p.Ala1767=) c.5766G>A (p.Ala1922=) c.5736G>A (p.Ala1912=) c.5334G>A (p.Ala1778=) c.4572G>A (p.Ala1524=) c.3468G>A (p.Ala1156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411728G>C | CA513174289 | PCNT | c.5688G>C (p.Ala1896=) c.*4898G>C (n.*4898G>C) c.5655G>C (p.Ala1885=) n.5924G>C c.5301G>C (p.Ala1767=) c.5766G>C (p.Ala1922=) c.5736G>C (p.Ala1912=) c.5334G>C (p.Ala1778=) c.4572G>C (p.Ala1524=) c.3468G>C (p.Ala1156=) | |
21 | g.46411728G= | CA2392665023 | PCNT | c.5688G= (p.Ala1896=) c.*4898G= (n.*4898G=) c.5655G= (p.Ala1885=) n.5924G= c.5301G= (p.Ala1767=) c.5766G= (p.Ala1922=) c.5736G= (p.Ala1912=) c.5334G= (p.Ala1778=) c.4572G= (p.Ala1524=) c.3468G= (p.Ala1156=) | |
21 | g.46411728G>T | CA513174288 | PCNT | c.5688G>T (p.Ala1896=) c.*4898G>T (n.*4898G>T) c.5655G>T (p.Ala1885=) n.5924G>T c.5301G>T (p.Ala1767=) c.5766G>T (p.Ala1922=) c.5736G>T (p.Ala1912=) c.5334G>T (p.Ala1778=) c.4572G>T (p.Ala1524=) c.3468G>T (p.Ala1156=) | |
21 | g.46411729del | CA638499600 | PCNT | c.5689del (p.Ala1897ProfsTer?) c.*4899del (n.*4899del) c.5656del (p.Ala1886ProfsTer?) n.5925del c.5302del (p.Ala1768ProfsTer?) c.5767del (p.Ala1923ProfsTer?) c.5737del (p.Ala1913ProfsTer?) c.5335del (p.Ala1779ProfsTer?) c.4573del (p.Ala1525ProfsTer?) c.3469del (p.Ala1157ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.46411729G>A | CA321998101 | PCNT | n.1G>A c.5689G>A (p.Ala1897Thr) c.*4899G>A (n.*4899G>A) c.5656G>A (p.Ala1886Thr) n.5925G>A c.5302G>A (p.Ala1768Thr) c.5767G>A (p.Ala1923Thr) c.5737G>A (p.Ala1913Thr) c.5335G>A (p.Ala1779Thr) c.4573G>A (p.Ala1525Thr) c.3469G>A (p.Ala1157Thr) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411729G>C | CA410555641 | PCNT | n.1G>C c.5689G>C (p.Ala1897Pro) c.*4899G>C (n.*4899G>C) c.5656G>C (p.Ala1886Pro) n.5925G>C c.5302G>C (p.Ala1768Pro) c.5767G>C (p.Ala1923Pro) c.5737G>C (p.Ala1913Pro) c.5335G>C (p.Ala1779Pro) c.4573G>C (p.Ala1525Pro) c.3469G>C (p.Ala1157Pro) | |
21 | g.46411729G= | CA2392665024 | PCNT | n.1G= c.5689G= (p.Ala1897=) c.*4899G= (n.*4899G=) c.5656G= (p.Ala1886=) n.5925G= c.5302G= (p.Ala1768=) c.5767G= (p.Ala1923=) c.5737G= (p.Ala1913=) c.5335G= (p.Ala1779=) c.4573G= (p.Ala1525=) c.3469G= (p.Ala1157=) | |
21 | g.46411729G>T | CA410555644 | PCNT | n.1G>T c.5689G>T (p.Ala1897Ser) c.*4899G>T (n.*4899G>T) c.5656G>T (p.Ala1886Ser) n.5925G>T c.5302G>T (p.Ala1768Ser) c.5767G>T (p.Ala1923Ser) c.5737G>T (p.Ala1913Ser) c.5335G>T (p.Ala1779Ser) c.4573G>T (p.Ala1525Ser) c.3469G>T (p.Ala1157Ser) | |
21 | g.46411730C>A | CA410555654 | PCNT | n.2C>A c.5690C>A (p.Ala1897Asp) c.*4900C>A (n.*4900C>A) c.5657C>A (p.Ala1886Asp) n.5926C>A c.5303C>A (p.Ala1768Asp) c.5768C>A (p.Ala1923Asp) c.5738C>A (p.Ala1913Asp) c.5336C>A (p.Ala1779Asp) c.4574C>A (p.Ala1525Asp) c.3470C>A (p.Ala1157Asp) | |
21 | g.46411730C= | CA2392665025 | PCNT | n.2C= c.5690C= (p.Ala1897=) c.*4900C= (n.*4900C=) c.5657C= (p.Ala1886=) n.5926C= c.5303C= (p.Ala1768=) c.5768C= (p.Ala1923=) c.5738C= (p.Ala1913=) c.5336C= (p.Ala1779=) c.4574C= (p.Ala1525=) c.3470C= (p.Ala1157=) | |
21 | g.46411730C>G | CA410555660 | PCNT | n.2C>G c.5690C>G (p.Ala1897Gly) c.*4900C>G (n.*4900C>G) c.5657C>G (p.Ala1886Gly) n.5926C>G c.5303C>G (p.Ala1768Gly) c.5768C>G (p.Ala1923Gly) c.5738C>G (p.Ala1913Gly) c.5336C>G (p.Ala1779Gly) c.4574C>G (p.Ala1525Gly) c.3470C>G (p.Ala1157Gly) | |
21 | g.46411730C>T | CA410555664 | PCNT | n.2C>T c.5690C>T (p.Ala1897Val) c.*4900C>T (n.*4900C>T) c.5657C>T (p.Ala1886Val) n.5926C>T c.5303C>T (p.Ala1768Val) c.5768C>T (p.Ala1923Val) c.5738C>T (p.Ala1913Val) c.5336C>T (p.Ala1779Val) c.4574C>T (p.Ala1525Val) c.3470C>T (p.Ala1157Val) | dbSNP gnomAD v4 |
21 | g.46411731C>A | CA513174292 | PCNT | n.3C>A c.5691C>A (p.Ala1897=) c.*4901C>A (n.*4901C>A) c.5658C>A (p.Ala1886=) n.5927C>A c.5304C>A (p.Ala1768=) c.5769C>A (p.Ala1923=) c.5739C>A (p.Ala1913=) c.5337C>A (p.Ala1779=) c.4575C>A (p.Ala1525=) c.3471C>A (p.Ala1157=) | |
21 | g.46411731C>G | CA513174293 | PCNT | n.3C>G c.5691C>G (p.Ala1897=) c.*4901C>G (n.*4901C>G) c.5658C>G (p.Ala1886=) n.5927C>G c.5304C>G (p.Ala1768=) c.5769C>G (p.Ala1923=) c.5739C>G (p.Ala1913=) c.5337C>G (p.Ala1779=) c.4575C>G (p.Ala1525=) c.3471C>G (p.Ala1157=) | |
21 | g.46411731C>T | CA513174294 | PCNT | n.3C>T c.5691C>T (p.Ala1897=) c.*4901C>T (n.*4901C>T) c.5658C>T (p.Ala1886=) n.5927C>T c.5304C>T (p.Ala1768=) c.5769C>T (p.Ala1923=) c.5739C>T (p.Ala1913=) c.5337C>T (p.Ala1779=) c.4575C>T (p.Ala1525=) c.3471C>T (p.Ala1157=) | |
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.46411732C>A | CA410555671 | PCNT | n.4C>A c.5692C>A (p.His1898Asn) c.*4902C>A (n.*4902C>A) c.5659C>A (p.His1887Asn) n.5928C>A c.5305C>A (p.His1769Asn) c.5770C>A (p.His1924Asn) c.5740C>A (p.His1914Asn) c.5338C>A (p.His1780Asn) c.4576C>A (p.His1526Asn) c.3472C>A (p.His1158Asn) | |
21 | g.46411732C>G | CA410555675 | PCNT | n.4C>G c.5692C>G (p.His1898Asp) c.*4902C>G (n.*4902C>G) c.5659C>G (p.His1887Asp) n.5928C>G c.5305C>G (p.His1769Asp) c.5770C>G (p.His1924Asp) c.5740C>G (p.His1914Asp) c.5338C>G (p.His1780Asp) c.4576C>G (p.His1526Asp) c.3472C>G (p.His1158Asp) | |
21 | g.46411732C>T | CA410555679 | PCNT | n.4C>T c.5692C>T (p.His1898Tyr) c.*4902C>T (n.*4902C>T) c.5659C>T (p.His1887Tyr) n.5928C>T c.5305C>T (p.His1769Tyr) c.5770C>T (p.His1924Tyr) c.5740C>T (p.His1914Tyr) c.5338C>T (p.His1780Tyr) c.4576C>T (p.His1526Tyr) c.3472C>T (p.His1158Tyr) | |
21 | g.46411733A= | CA2392665026 | PCNT | n.5A= c.5693A= (p.His1898=) c.*4903A= (n.*4903A=) c.5660A= (p.His1887=) n.5929A= c.5306A= (p.His1769=) c.5771A= (p.His1924=) c.5741A= (p.His1914=) c.5339A= (p.His1780=) c.4577A= (p.His1526=) c.3473A= (p.His1158=) | |
21 | g.46411733A>C | CA10080051 | PCNT | n.5A>C c.5693A>C (p.His1898Pro) c.*4903A>C (n.*4903A>C) c.5660A>C (p.His1887Pro) n.5929A>C c.5306A>C (p.His1769Pro) c.5771A>C (p.His1924Pro) c.5741A>C (p.His1914Pro) c.5339A>C (p.His1780Pro) c.4577A>C (p.His1526Pro) c.3473A>C (p.His1158Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.46411733A>G | CA410555685 | PCNT | n.5A>G c.5693A>G (p.His1898Arg) c.*4903A>G (n.*4903A>G) c.5660A>G (p.His1887Arg) n.5929A>G c.5306A>G (p.His1769Arg) c.5771A>G (p.His1924Arg) c.5741A>G (p.His1914Arg) c.5339A>G (p.His1780Arg) c.4577A>G (p.His1526Arg) c.3473A>G (p.His1158Arg) | gnomAD v4 |
21 | g.46411733A>T | CA410555684 | PCNT | n.5A>T c.5693A>T (p.His1898Leu) c.*4903A>T (n.*4903A>T) c.5660A>T (p.His1887Leu) n.5929A>T c.5306A>T (p.His1769Leu) c.5771A>T (p.His1924Leu) c.5741A>T (p.His1914Leu) c.5339A>T (p.His1780Leu) c.4577A>T (p.His1526Leu) c.3473A>T (p.His1158Leu) | gnomAD v4 |
21 | g.46411734C>A | CA410555686 | PCNT | n.6C>A c.5694C>A (p.His1898Gln) c.*4904C>A (n.*4904C>A) c.5661C>A (p.His1887Gln) n.5930C>A c.5307C>A (p.His1769Gln) c.5772C>A (p.His1924Gln) c.5742C>A (p.His1914Gln) c.5340C>A (p.His1780Gln) c.4578C>A (p.His1526Gln) c.3474C>A (p.His1158Gln) | |
21 | g.46411734C= | CA2392665027 | PCNT | n.6C= c.5694C= (p.His1898=) c.*4904C= (n.*4904C=) c.5661C= (p.His1887=) n.5930C= c.5307C= (p.His1769=) c.5772C= (p.His1924=) c.5742C= (p.His1914=) c.5340C= (p.His1780=) c.4578C= (p.His1526=) c.3474C= (p.His1158=) | |
21 | g.46411734C>G | CA410555687 | PCNT | n.6C>G c.5694C>G (p.His1898Gln) c.*4904C>G (n.*4904C>G) c.5661C>G (p.His1887Gln) n.5930C>G c.5307C>G (p.His1769Gln) c.5772C>G (p.His1924Gln) c.5742C>G (p.His1914Gln) c.5340C>G (p.His1780Gln) c.4578C>G (p.His1526Gln) c.3474C>G (p.His1158Gln) | |
21 | g.46411734C>T | CA10080052 | PCNT | n.6C>T c.5694C>T (p.His1898=) c.*4904C>T (n.*4904C>T) c.5661C>T (p.His1887=) n.5930C>T c.5307C>T (p.His1769=) c.5772C>T (p.His1924=) c.5742C>T (p.His1914=) c.5340C>T (p.His1780=) c.4578C>T (p.His1526=) c.3474C>T (p.His1158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46411735T>A | CA410555711 | PCNT | n.7T>A c.5695T>A (p.Ser1899Thr) c.*4905T>A (n.*4905T>A) c.5662T>A (p.Ser1888Thr) n.5931T>A c.5308T>A (p.Ser1770Thr) c.5773T>A (p.Ser1925Thr) c.5743T>A (p.Ser1915Thr) c.5341T>A (p.Ser1781Thr) c.4579T>A (p.Ser1527Thr) c.3475T>A (p.Ser1159Thr) | |
21 | g.46411735T>C | CA410555726 | PCNT | n.7T>C c.5695T>C (p.Ser1899Pro) c.*4905T>C (n.*4905T>C) c.5662T>C (p.Ser1888Pro) n.5931T>C c.5308T>C (p.Ser1770Pro) c.5773T>C (p.Ser1925Pro) c.5743T>C (p.Ser1915Pro) c.5341T>C (p.Ser1781Pro) c.4579T>C (p.Ser1527Pro) c.3475T>C (p.Ser1159Pro) | |
21 | g.46411735T>G | CA410555730 | PCNT | n.7T>G c.5695T>G (p.Ser1899Ala) c.*4905T>G (n.*4905T>G) c.5662T>G (p.Ser1888Ala) n.5931T>G c.5308T>G (p.Ser1770Ala) c.5773T>G (p.Ser1925Ala) c.5743T>G (p.Ser1915Ala) c.5341T>G (p.Ser1781Ala) c.4579T>G (p.Ser1527Ala) c.3475T>G (p.Ser1159Ala) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411735T= | CA2392665028 | PCNT | n.7T= c.5695T= (p.Ser1899=) c.*4905T= (n.*4905T=) c.5662T= (p.Ser1888=) n.5931T= c.5308T= (p.Ser1770=) c.5773T= (p.Ser1925=) c.5743T= (p.Ser1915=) c.5341T= (p.Ser1781=) c.4579T= (p.Ser1527=) c.3475T= (p.Ser1159=) | |
21 | g.46411736C>A | CA410555733 | PCNT | n.8C>A c.5696C>A (p.Ser1899Tyr) c.*4906C>A (n.*4906C>A) c.5663C>A (p.Ser1888Tyr) n.5932C>A c.5309C>A (p.Ser1770Tyr) c.5774C>A (p.Ser1925Tyr) c.5744C>A (p.Ser1915Tyr) c.5342C>A (p.Ser1781Tyr) c.4580C>A (p.Ser1527Tyr) c.3476C>A (p.Ser1159Tyr) | |
21 | g.46411736C= | CA2392665029 | PCNT | n.8C= c.5696C= (p.Ser1899=) c.*4906C= (n.*4906C=) c.5663C= (p.Ser1888=) n.5932C= c.5309C= (p.Ser1770=) c.5774C= (p.Ser1925=) c.5744C= (p.Ser1915=) c.5342C= (p.Ser1781=) c.4580C= (p.Ser1527=) c.3476C= (p.Ser1159=) | |
21 | g.46411736C>G | CA10080053 | PCNT | n.8C>G c.5696C>G (p.Ser1899Cys) c.*4906C>G (n.*4906C>G) c.5663C>G (p.Ser1888Cys) n.5932C>G c.5309C>G (p.Ser1770Cys) c.5774C>G (p.Ser1925Cys) c.5744C>G (p.Ser1915Cys) c.5342C>G (p.Ser1781Cys) c.4580C>G (p.Ser1527Cys) c.3476C>G (p.Ser1159Cys) | dbSNP ExAC gnomAD v2 COSMIC |
21 | g.46411736C>T | CA410555743 | PCNT | n.8C>T c.5696C>T (p.Ser1899Phe) c.*4906C>T (n.*4906C>T) c.5663C>T (p.Ser1888Phe) n.5932C>T c.5309C>T (p.Ser1770Phe) c.5774C>T (p.Ser1925Phe) c.5744C>T (p.Ser1915Phe) c.5342C>T (p.Ser1781Phe) c.4580C>T (p.Ser1527Phe) c.3476C>T (p.Ser1159Phe) | dbSNP gnomAD v4 |
21 | g.46411737T>A | CA513174303 | PCNT | n.9T>A c.5697T>A (p.Ser1899=) c.*4907T>A (n.*4907T>A) c.5664T>A (p.Ser1888=) n.5933T>A c.5310T>A (p.Ser1770=) c.5775T>A (p.Ser1925=) c.5745T>A (p.Ser1915=) c.5343T>A (p.Ser1781=) c.4581T>A (p.Ser1527=) c.3477T>A (p.Ser1159=) | |
21 | g.46411737T>C | CA513174302 | PCNT | n.9T>C c.5697T>C (p.Ser1899=) c.*4907T>C (n.*4907T>C) c.5664T>C (p.Ser1888=) n.5933T>C c.5310T>C (p.Ser1770=) c.5775T>C (p.Ser1925=) c.5745T>C (p.Ser1915=) c.5343T>C (p.Ser1781=) c.4581T>C (p.Ser1527=) c.3477T>C (p.Ser1159=) | |
21 | g.46411737T>G | CA513174301 | PCNT | n.9T>G c.5697T>G (p.Ser1899=) c.*4907T>G (n.*4907T>G) c.5664T>G (p.Ser1888=) n.5933T>G c.5310T>G (p.Ser1770=) c.5775T>G (p.Ser1925=) c.5745T>G (p.Ser1915=) c.5343T>G (p.Ser1781=) c.4581T>G (p.Ser1527=) c.3477T>G (p.Ser1159=) | |
21 | g.46411738G>A | CA410555775 | PCNT | n.10G>A c.5698G>A (p.Ala1900Thr) c.*4908G>A (n.*4908G>A) c.5665G>A (p.Ala1889Thr) n.5934G>A c.5311G>A (p.Ala1771Thr) c.5776G>A (p.Ala1926Thr) c.5746G>A (p.Ala1916Thr) c.5344G>A (p.Ala1782Thr) c.4582G>A (p.Ala1528Thr) c.3478G>A (p.Ala1160Thr) | |
21 | g.46411738G>C | CA410555766 | PCNT | n.10G>C c.5698G>C (p.Ala1900Pro) c.*4908G>C (n.*4908G>C) c.5665G>C (p.Ala1889Pro) n.5934G>C c.5311G>C (p.Ala1771Pro) c.5776G>C (p.Ala1926Pro) c.5746G>C (p.Ala1916Pro) c.5344G>C (p.Ala1782Pro) c.4582G>C (p.Ala1528Pro) c.3478G>C (p.Ala1160Pro) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.46411738G= | CA2392665030 | PCNT | n.10G= c.5698G= (p.Ala1900=) c.*4908G= (n.*4908G=) c.5665G= (p.Ala1889=) n.5934G= c.5311G= (p.Ala1771=) c.5776G= (p.Ala1926=) c.5746G= (p.Ala1916=) c.5344G= (p.Ala1782=) c.4582G= (p.Ala1528=) c.3478G= (p.Ala1160=) | |
21 | g.46411738G>T | CA410555755 | PCNT | n.10G>T c.5698G>T (p.Ala1900Ser) c.*4908G>T (n.*4908G>T) c.5665G>T (p.Ala1889Ser) n.5934G>T c.5311G>T (p.Ala1771Ser) c.5776G>T (p.Ala1926Ser) c.5746G>T (p.Ala1916Ser) c.5344G>T (p.Ala1782Ser) c.4582G>T (p.Ala1528Ser) c.3478G>T (p.Ala1160Ser) | gnomAD v4 |
21 | g.46411739C>A | CA410555780 | PCNT | n.11C>A c.5699C>A (p.Ala1900Asp) c.*4909C>A (n.*4909C>A) c.5666C>A (p.Ala1889Asp) n.5935C>A c.5312C>A (p.Ala1771Asp) c.5777C>A (p.Ala1926Asp) c.5747C>A (p.Ala1916Asp) c.5345C>A (p.Ala1782Asp) c.4583C>A (p.Ala1528Asp) c.3479C>A (p.Ala1160Asp) | |
21 | g.46411739C= | CA2392665031 | PCNT | n.11C= c.5699C= (p.Ala1900=) c.*4909C= (n.*4909C=) c.5666C= (p.Ala1889=) n.5935C= c.5312C= (p.Ala1771=) c.5777C= (p.Ala1926=) c.5747C= (p.Ala1916=) c.5345C= (p.Ala1782=) c.4583C= (p.Ala1528=) c.3479C= (p.Ala1160=) | |
21 | g.46411739C>G | CA410555790 | PCNT | n.11C>G c.5699C>G (p.Ala1900Gly) c.*4909C>G (n.*4909C>G) c.5666C>G (p.Ala1889Gly) n.5935C>G c.5312C>G (p.Ala1771Gly) c.5777C>G (p.Ala1926Gly) c.5747C>G (p.Ala1916Gly) c.5345C>G (p.Ala1782Gly) c.4583C>G (p.Ala1528Gly) c.3479C>G (p.Ala1160Gly) | ClinVar dbSNP gnomAD v4 |
21 | g.46411739C>T | CA410555795 | PCNT | n.11C>T c.5699C>T (p.Ala1900Val) c.*4909C>T (n.*4909C>T) c.5666C>T (p.Ala1889Val) n.5935C>T c.5312C>T (p.Ala1771Val) c.5777C>T (p.Ala1926Val) c.5747C>T (p.Ala1916Val) c.5345C>T (p.Ala1782Val) c.4583C>T (p.Ala1528Val) c.3479C>T (p.Ala1160Val) | |
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 |