Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46411645G>ACA410554762PCNTc.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)
21g.46411645G>CCA410554767PCNTc.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)
21g.46411645G>TCA410554763PCNTc.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)
21g.46411646A=CA2392664981PCNTc.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=)
21g.46411646A>CCA410554769PCNTc.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)
21g.46411646A>GCA410554770PCNTc.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)
21g.46411646A>TCA10080029PCNTc.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
21g.46411647G>ACA513173954PCNTc.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=)
21g.46411647G>CCA410554774PCNTc.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)
21g.46411647G>TCA410554781PCNTc.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
21g.46411648T>ACA410554787PCNTc.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)
21g.46411648T>CCA410554807PCNTc.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
21g.46411648T>GCA410554809PCNTc.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)
21g.46411649T>ACA410554815PCNTc.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)
21g.46411649T>CCA410554822PCNTc.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)
21g.46411649T>GCA410554824PCNTc.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)
21g.46411650C>ACA410554828PCNTc.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)
21g.46411650C=CA2392664982PCNTc.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=)
21g.46411650C>GCA410554827PCNTc.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
21g.46411650C>TCA10080030PCNTc.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
21g.46411651G>ACA410554829PCNTc.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
21g.46411651G>CCA410554831PCNTc.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)
21g.46411651G=CA2392664983PCNTc.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=)
21g.46411651G>TCA251085PCNTc.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
21g.46411652A>CCA410554850PCNTc.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)
21g.46411652A>GCA410554853PCNTc.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)
21g.46411652A>TCA410554855PCNTc.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)
21g.46411653A>CCA410554858PCNTc.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)
21g.46411653A>GCA513173957PCNTc.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=)
21g.46411653A>TCA410554862PCNTc.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)
21g.46411654G>ACA10080031PCNTc.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
21g.46411654G>CCA410554864PCNTc.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)
21g.46411654G=CA2392664984PCNTc.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=)
21g.46411654G>TCA410554866PCNTc.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
21g.46411655C>ACA410554867PCNTc.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)
21g.46411655C=CA2392664985PCNTc.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=)
21g.46411655C>GCA410554869PCNTc.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)
21g.46411655C>TCA10080032PCNTc.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
21g.46411656G>ACA10080033PCNTc.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
21g.46411656G>CCA513173966PCNTc.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=)
21g.46411656G=CA2392664986PCNTc.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=)
21g.46411656G>TCA513173967PCNTc.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=)
21g.46411657G>ACA410554880PCNTc.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
21g.46411657G>CCA410554882PCNTc.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)
21g.46411657G=CA2392664987PCNTc.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=)
21g.46411657G>TCA410554884PCNTc.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)
21g.46411658C>ACA410554887PCNTc.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)
21g.46411658C>GCA410554889PCNTc.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)
21g.46411658C>TCA410554892PCNTc.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
21g.46411659C>ACA513173980PCNTc.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
21g.46411659C=CA2392664988PCNTc.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=)
21g.46411659C>GCA513173978PCNTc.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=)
21g.46411659C>TCA513173979PCNTc.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
21g.46411660C>ACA410554895PCNTc.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)
21g.46411660C=CA2392664989PCNTc.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=)
21g.46411660C>GCA410554901PCNTc.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)
21g.46411660C>TCA513173981PCNTc.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
21g.46411661T>ACA410554904PCNTc.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)
21g.46411661T>CCA410554908PCNTc.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
21g.46411661T>GCA410554912PCNTc.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)
21g.46411662G>ACA513173983PCNTc.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
21g.46411662G>CCA513173984PCNTc.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=)
21g.46411662G=CA2392664990PCNTc.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=)
21g.46411662G>TCA513173986PCNTc.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=)
21g.46411663A>CCA410554922PCNTc.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)
21g.46411663A>GCA410554925PCNTc.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)
21g.46411663A>TCA410554917PCNTc.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)
21g.46411664A>CCA410554933PCNTc.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)
21g.46411664A>GCA410554935PCNTc.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
21g.46411664A>TCA410554937PCNTc.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)
21g.46411665A=CA2392664991PCNTc.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=)
21g.46411665A>CCA410554938PCNTc.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)
21g.46411665A>GCA10080034PCNTc.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
21g.46411665A>TCA410554939PCNTc.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)
21g.46411666G>ACA410554952PCNTc.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
21g.46411666G>CCA410554942PCNTc.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)
21g.46411666G=CA2392664992PCNTc.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=)
21g.46411666G>TCA410554950PCNTc.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)
21g.46411667C>ACA410554955PCNTc.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)
21g.46411667C=CA2392664993PCNTc.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=)
21g.46411667C>GCA321998070PCNTc.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
21g.46411667C>TCA410554960PCNTc.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
21g.46411668A>CCA513174003PCNTc.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=)
21g.46411668A>GCA513174005PCNTc.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=)
21g.46411668A>TCA513174004PCNTc.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=)
21g.46411668_46411671delCA2655023787PCNTc.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
21g.46411669A>CCA410554964PCNTc.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)
21g.46411669A>GCA410554971PCNTc.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)
21g.46411669A>TCA410554975PCNTc.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)
21g.46411670A>CCA410554978PCNTc.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)
21g.46411670A>GCA410554989PCNTc.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)
21g.46411670A>TCA410554976PCNTc.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)
21g.46411671G>ACA513174010PCNTc.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=)
21g.46411671G>CCA410554999PCNTc.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)
21g.46411671G>TCA410554997PCNTc.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)
21g.46411672G>ACA410555024PCNTc.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
21g.46411672G>CCA410555010PCNTc.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)
21g.46411672G>TCA410555012PCNTc.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)
21g.46411672_46411673insTCA2655023788PCNTc.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
21g.46411673A>CCA410555031PCNTc.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)
21g.46411673A>GCA410555035PCNTc.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)
21g.46411673A>TCA410555040PCNTc.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)
21g.46411674A=CA2392664994PCNTc.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=)
21g.46411674A>CCA410555045PCNTc.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)
21g.46411674A>GCA513174173PCNTc.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
21g.46411674A>TCA410555058PCNTc.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)
21g.46411675G>ACA410555064PCNTc.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
21g.46411675G>CCA410555066PCNTc.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)
21g.46411675G=CA2392664995PCNTc.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=)
21g.46411675G>TCA410555067PCNTc.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)
21g.46411676C>ACA410555071PCNTc.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)
21g.46411676C=CA2392664996PCNTc.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=)
21g.46411676C>GCA410555074PCNTc.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
21g.46411676C>TCA10080035PCNTc.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
21g.46411679_46411681delCA2655023789PCNTc.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
21g.46411677G>ACA10080036PCNTc.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
21g.46411677G>CCA513174178PCNTc.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=)
21g.46411677G=CA2392664997PCNTc.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=)
21g.46411677G>TCA321998075PCNTc.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
21g.46411678A>CCA410555087PCNTc.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)
21g.46411678A>GCA410555084PCNTc.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)
21g.46411678A>TCA410555080PCNTc.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)
21g.46411679C>ACA410555093PCNTc.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)
21g.46411679C=CA2392664998PCNTc.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=)
21g.46411679C>GCA410555097PCNTc.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)
21g.46411679C>TCA10080037PCNTc.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
21g.46411680G>ACA10080038PCNTc.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
21g.46411680G>CCA513174187PCNTc.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=)
21g.46411680G=CA2392664999PCNTc.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=)
21g.46411680G>TCA513174186PCNTc.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
21g.46411681A>CCA410555108PCNTc.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)
21g.46411681A>GCA410555120PCNTc.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)
21g.46411681A>TCA410555124PCNTc.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)
21g.46411682T>ACA410555129PCNTc.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)
21g.46411682T>CCA410555133PCNTc.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
21g.46411682T>GCA410555136PCNTc.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)
21g.46411683T>ACA513174192PCNTc.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=)
21g.46411683T>CCA513174193PCNTc.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=)
21g.46411683T>GCA410555150PCNTc.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)
21g.46411684G>ACA410555155PCNTc.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
21g.46411684G>CCA410555161PCNTc.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)
21g.46411684G>TCA410555162PCNTc.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)
21g.46411684_46411702delinsGCCGAGAGAAATTTAGAAACA2392665000PCNTc.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=)
21g.46411685C>ACA410555168PCNTc.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)
21g.46411685C>GCA410555167PCNTc.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)
21g.46411685C>TCA410555166PCNTc.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)
21g.46411685_46411702delCA638499598PCNTc.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
21g.46411686C>ACA513174198PCNTc.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
21g.46411686C=CA2392665001PCNTc.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=)
21g.46411686C>GCA513174196PCNTc.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=)
21g.46411686C>TCA10080039PCNTc.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
21g.46411686_46411698delinsCGAGAGAAATTTACA2392665002PCNTc.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=)
21g.46411687G>ACA10080040PCNTc.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
21g.46411687G>CCA410555176PCNTc.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)
21g.46411687G=CA2392665003PCNTc.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=)
21g.46411687G>TCA410555179PCNTc.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)
21g.46411689_46411700delCA638499599PCNTc.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
21g.46411688A>CCA410555187PCNTc.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)
21g.46411688A>GCA410555192PCNTc.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
21g.46411688A>TCA410555193PCNTc.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)
21g.46411689G>ACA513174201PCNTc.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=)
21g.46411689G>CCA410555194PCNTc.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)
21g.46411689G>TCA410555195PCNTc.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)
21g.46411690A=CA2392665004PCNTc.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=)
21g.46411690A>CCA513174202PCNTc.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
21g.46411690A>GCA410555198PCNTc.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)
21g.46411690A>TCA410555211PCNTc.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)
21g.46411696_46411703dupCA2577634003PCNTc.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)
21g.46411691G>ACA410555212PCNTc.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)
21g.46411691G>CCA410555213PCNTc.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)
21g.46411691G=CA2392665005PCNTc.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=)
21g.46411691G>TCA410555216PCNTc.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
21g.46411692A>CCA410555223PCNTc.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)
21g.46411692A>GCA513174207PCNTc.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
21g.46411692A>TCA410555219PCNTc.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)
21g.46411693A=CA2392665006PCNTc.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=)
21g.46411693A>CCA410555233PCNTc.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)
21g.46411693A>GCA10080041PCNTc.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
21g.46411693A>TCA410555256PCNTc.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)
21g.46411694A=CA2392665007PCNTc.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=)
21g.46411694A>CCA410555259PCNTc.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)
21g.46411694A>GCA321998084PCNTc.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
21g.46411694A>TCA410555270PCNTc.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)
21g.46411695T>ACA410555271PCNTc.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)
21g.46411695T>CCA513174215PCNTc.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=)
21g.46411695T>GCA410555272PCNTc.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)
21g.46411696T>ACA410555275PCNTc.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
21g.46411696T>CCA513174218PCNTc.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=)
21g.46411696T>GCA410555278PCNTc.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)
21g.46411696T=CA2392665008PCNTc.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=)
21g.46411697T>ACA410555282PCNTc.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)
21g.46411697T>CCA410555286PCNTc.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)
21g.46411697T>GCA410555288PCNTc.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
21g.46411697T=CA2392665009PCNTc.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=)
21g.46411698A=CA2392665010PCNTc.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=)
21g.46411698A>CCA410555294PCNTc.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)
21g.46411698A>GCA10080042PCNTc.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
21g.46411698A>TCA410555298PCNTc.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)
21g.46411699G>ACA410555309PCNTc.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)
21g.46411699G>CCA410555313PCNTc.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)
21g.46411699G>TCA410555311PCNTc.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)
21g.46411700A>CCA410555316PCNTc.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)
21g.46411700A>GCA410555321PCNTc.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)
21g.46411700A>TCA410555324PCNTc.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
21g.46411701A>CCA410555325PCNTc.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)
21g.46411701A>GCA513174224PCNTc.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=)
21g.46411701A>TCA410555326PCNTc.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)
21g.46411702A>CCA410555329PCNTc.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)
21g.46411702A>GCA410555331PCNTc.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
21g.46411702A>TCA410555339PCNTc.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)
21g.46411703T>ACA410555343PCNTc.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)
21g.46411703T>CCA410555348PCNTc.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)
21g.46411703T>GCA410555349PCNTc.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)
21g.46411704C>ACA513174231PCNTc.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=)
21g.46411704C=CA2392665011PCNTc.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=)
21g.46411704C>GCA321998088PCNTc.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
21g.46411704C>TCA148443PCNTc.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
21g.46411705G>ACA10080043PCNTc.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
21g.46411705G>CCA410555356PCNTc.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
21g.46411705G=CA2392665012PCNTc.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=)
21g.46411705G>TCA10080044PCNTc.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
21g.46411706A>CCA410555365PCNTc.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)
21g.46411706A>GCA410555370PCNTc.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)
21g.46411706A>TCA410555378PCNTc.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)
21g.46411707C>ACA410555382PCNTc.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
21g.46411707C=CA2392665013PCNTc.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=)
21g.46411707C>GCA10080045PCNTc.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
21g.46411707C>TCA148445PCNTc.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
21g.46411708G>ACA10080046PCNTc.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
21g.46411708G>CCA410555397PCNTc.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)
21g.46411708G=CA2392665014PCNTc.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=)
21g.46411708G>TCA410555404PCNTc.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
21g.46411709C>ACA410555411PCNTc.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)
21g.46411709C=CA2392665015PCNTc.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=)
21g.46411709C>GCA410555414PCNTc.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
21g.46411709C>TCA410555409PCNTc.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
21g.46411710T>ACA513174248PCNTc.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=)
21g.46411710T>CCA513174247PCNTc.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
21g.46411710T>GCA513174246PCNTc.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=)
21g.46411710T=CA2392665016PCNTc.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=)
21g.46411711C>ACA410555416PCNTc.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)
21g.46411711C=CA2392665017PCNTc.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=)
21g.46411711C>GCA410555418PCNTc.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
21g.46411711C>TCA513174249PCNTc.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=)
21g.46411712T>ACA410555420PCNTc.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)
21g.46411712T>CCA410555422PCNTc.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)
21g.46411712T>GCA410555431PCNTc.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)
21g.46411713G>ACA513174251PCNTc.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=)
21g.46411713G>CCA513174255PCNTc.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
21g.46411713G=CA2392665018PCNTc.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=)
21g.46411713G>TCA513174257PCNTc.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=)
21g.46411714A>CCA410555436PCNTc.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)
21g.46411714A>GCA410555439PCNTc.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)
21g.46411714A>TCA410555447PCNTc.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)
21g.46411715A>CCA410555448PCNTc.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)
21g.46411715A>GCA410555449PCNTc.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)
21g.46411715A>TCA410555452PCNTc.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)
21g.46411716C>ACA410555456PCNTc.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)
21g.46411716C>GCA410555458PCNTc.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
21g.46411716C>TCA513174264PCNTc.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
21g.46411717C>ACA410555466PCNTc.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)
21g.46411717C>GCA410555463PCNTc.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)
21g.46411717C>TCA410555460PCNTc.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)
21g.46411718A>CCA410555467PCNTc.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)
21g.46411718A>GCA410555471PCNTc.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)
21g.46411718A>TCA410555475PCNTc.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)
21g.46411719G>ACA513174270PCNTc.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=)
21g.46411719G>CCA410555477PCNTc.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)
21g.46411719G>TCA410555479PCNTc.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
21g.46411720C>ACA513174272PCNTc.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=)
21g.46411720C=CA2392665019PCNTc.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=)
21g.46411720C>GCA410555483PCNTc.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)
21g.46411720C>TCA10080047PCNTc.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
21g.46411721G>ACA10080048PCNTc.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
21g.46411721G>CCA410555503PCNTc.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
21g.46411721G=CA2392665020PCNTc.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=)
21g.46411721G>TCA410555507PCNTc.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
21g.46411722G>ACA513174275PCNTc.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
21g.46411722G>CCA513174276PCNTc.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=)
21g.46411722G>TCA513174277PCNTc.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=)
21g.46411723A>CCA410555514PCNTc.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)
21g.46411723A>GCA410555534PCNTc.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)
21g.46411723A>TCA410555546PCNTc.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)
21g.46411724A>CCA410555563PCNTc.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)
21g.46411724A>GCA410555549PCNTc.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)
21g.46411724A>TCA410555556PCNTc.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)
21g.46411725G>ACA513174281PCNTc.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
21g.46411725G>CCA410555566PCNTc.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)
21g.46411725G>TCA410555571PCNTc.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)
21g.46411726G>ACA410555575PCNTc.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)
21g.46411726G>CCA410555605PCNTc.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)
21g.46411726G>TCA410555591PCNTc.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)
21g.46411727C>ACA410555608PCNTc.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
21g.46411727C=CA2392665021PCNTc.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=)
21g.46411727C>GCA410555612PCNTc.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)
21g.46411727C>TCA10080049PCNTc.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
21g.46411727_46411728insTCCA2655023803PCNTc.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
21g.46411727_46411728delinsCGCA2392665022PCNTc.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=)
21g.46411728G>ACA10080050PCNTc.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
21g.46411728G>CCA513174289PCNTc.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=)
21g.46411728G=CA2392665023PCNTc.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=)
21g.46411728G>TCA513174288PCNTc.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=)
21g.46411729delCA638499600PCNTc.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
21g.46411729G>ACA321998101PCNTn.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
21g.46411729G>CCA410555641PCNTn.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)
21g.46411729G=CA2392665024PCNTn.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=)
21g.46411729G>TCA410555644PCNTn.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)
21g.46411730C>ACA410555654PCNTn.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)
21g.46411730C=CA2392665025PCNTn.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=)
21g.46411730C>GCA410555660PCNTn.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)
21g.46411730C>TCA410555664PCNTn.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
21g.46411731C>ACA513174292PCNTn.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=)
21g.46411731C>GCA513174293PCNTn.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=)
21g.46411731C>TCA513174294PCNTn.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=)
21g.46411733_46411756dupCA2655023821PCNTn.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
21g.46411732C>ACA410555671PCNTn.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)
21g.46411732C>GCA410555675PCNTn.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)
21g.46411732C>TCA410555679PCNTn.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)
21g.46411733A=CA2392665026PCNTn.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=)
21g.46411733A>CCA10080051PCNTn.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
21g.46411733A>GCA410555685PCNTn.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
21g.46411733A>TCA410555684PCNTn.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
21g.46411734C>ACA410555686PCNTn.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)
21g.46411734C=CA2392665027PCNTn.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=)
21g.46411734C>GCA410555687PCNTn.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)
21g.46411734C>TCA10080052PCNTn.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
21g.46411735T>ACA410555711PCNTn.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)
21g.46411735T>CCA410555726PCNTn.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)
21g.46411735T>GCA410555730PCNTn.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
21g.46411735T=CA2392665028PCNTn.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=)
21g.46411736C>ACA410555733PCNTn.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)
21g.46411736C=CA2392665029PCNTn.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=)
21g.46411736C>GCA10080053PCNTn.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
21g.46411736C>TCA410555743PCNTn.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
21g.46411737T>ACA513174303PCNTn.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=)
21g.46411737T>CCA513174302PCNTn.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=)
21g.46411737T>GCA513174301PCNTn.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=)
21g.46411738G>ACA410555775PCNTn.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)
21g.46411738G>CCA410555766PCNTn.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
21g.46411738G=CA2392665030PCNTn.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=)
21g.46411738G>TCA410555755PCNTn.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
21g.46411739C>ACA410555780PCNTn.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)
21g.46411739C=CA2392665031PCNTn.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=)
21g.46411739C>GCA410555790PCNTn.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
21g.46411739C>TCA410555795PCNTn.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)
21g.46411740C>ACA513174308PCNTn.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=)
21g.46411740C=CA2392665032PCNTn.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=)
21g.46411740C>GCA513174309PCNTn.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=)
21g.46411740C>TCA10080054PCNTn.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
21g.46411741G>ACA321998110PCNTn.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
21g.46411741G>CCA10080055PCNTn.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
21g.46411741G=CA2392665033PCNTn.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=)
21g.46411741G>TCA410555814PCNTn.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
21g.46411742A>CCA410555818PCNTn.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)
21g.46411742A>GCA410555821PCNTn.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)
21g.46411742A>TCA410555820PCNTn.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)
21g.46411743G>ACA513174313PCNTn.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=)
21g.46411743G>CCA410555823PCNTn.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)
21g.46411743G>TCA410555827PCNTn.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)
21g.46411744C>ACA410555848PCNTn.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)
21g.46411744C>GCA410555854PCNTn.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)
21g.46411744C>TCA513174317PCNTn.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
21g.46411745T>ACA410555858PCNTn.17T>A
c.5705T>A (p.Leu1902Gln)
c.*4915T>A (n.*4915T>A)
c.5672T>A (p.Leu1891Gln)
n.5941T>A
c.5318T>A (p.Leu1773Gln)
c.5783T>A (p.Leu1928Gln)
c.5753T>A (p.Leu1918Gln)
c.5351T>A (p.Leu1784Gln)
c.4589T>A (p.Leu1530Gln)
c.3485T>A (p.Leu1162Gln)
21g.46411745T>CCA410555885PCNTn.17T>C
c.5705T>C (p.Leu1902Pro)
c.*4915T>C (n.*4915T>C)
c.5672T>C (p.Leu1891Pro)
n.5941T>C
c.5318T>C (p.Leu1773Pro)
c.5783T>C (p.Leu1928Pro)
c.5753T>C (p.Leu1918Pro)
c.5351T>C (p.Leu1784Pro)
c.4589T>C (p.Leu1530Pro)
c.3485T>C (p.Leu1162Pro)
21g.46411745T>GCA410555861PCNTn.17T>G
c.5705T>G (p.Leu1902Arg)
c.*4915T>G (n.*4915T>G)
c.5672T>G (p.Leu1891Arg)
n.5941T>G
c.5318T>G (p.Leu1773Arg)
c.5783T>G (p.Leu1928Arg)
c.5753T>G (p.Leu1918Arg)
c.5351T>G (p.Leu1784Arg)
c.4589T>G (p.Leu1530Arg)
c.3485T>G (p.Leu1162Arg)

Number of alleles fetched